banner
Genes Phenotypes Help, News, Blog

Gene: Adam17 MGI:1096335

Log in to follow

Gene Summary

Name:
a disintegrin and metallopeptidase domain 17
Synonyms:
Tace,  CD156b

Order Alleles

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

View all our phenotype data below

Phenotypes

The IMPC applies a panel of phenotyping screens to characterise single-gene knockout mice by comparison to wild types. Click on the different tabs to visualise significant phenotypes identified by the IMPC, as well as all data that was measured.

Phenotype System Allele Zyg Sex Life Stage P Value
preweaning lethality, incomplete penetrance Adam17tm1a(EUCOMM)Wtsi HOM   Early adult 0.00
abnormal vibrissa morphology Adam17tm1a(EUCOMM)Wtsi HET Early adult 8.88×10-05

Download data as:  TSV  XLS

Select physiological systems to view:
Viewing: all phenotypes
Select physiological systems to view:
Viewing: all phenotypes

lacZ Expression

An assay measuring the expression of lacZ shows the tissue where the gene is expressed.

Anatomy Images Zygosity Mutant Expr
Adrenal gland N/A heterozygote 50% (1 of 2)
Aorta N/A heterozygote Not available
Blood vessel N/A heterozygote 100% (2 of 2)
Bone N/A heterozygote 0.0% (0 of 2)
Brain N/A heterozygote 100% (2 of 2)
Brainstem N/A heterozygote Not available
Brown adipose tissue N/A heterozygote 0.0% (0 of 2)
Cartilage tissue N/A heterozygote 0.0% (0 of 2)
Cerebellum N/A heterozygote Not available
Cerebral cortex N/A heterozygote Not available
Eye N/A heterozygote 100% (2 of 2)
Gall bladder N/A heterozygote Not available
Heart N/A heterozygote 50% (1 of 2)
Hippocampus N/A heterozygote Not available
Hypothalamus N/A heterozygote Not available
Kidney N/A heterozygote 100% (2 of 2)
Large intestine N/A heterozygote 0.0% (0 of 2)
Liver N/A heterozygote 0.0% (0 of 2)
Lower urinary tract N/A heterozygote 100% (2 of 2)
Lung N/A heterozygote 0.0% (0 of 2)
Lymph node N/A heterozygote 0.0% (0 of 2)
Mammary gland N/A heterozygote Not available
Esophagus N/A heterozygote 0.0% (0 of 2)
Olfactory lobe N/A heterozygote Not available
Ovary N/A heterozygote 0.0% (0 of 2)
Oviduct N/A heterozygote 0.0% (0 of 2)
Pancreas N/A heterozygote 0.0% (0 of 2)
Parathyroid gland N/A heterozygote Not available
Peripheral nervous system N/A heterozygote 0.0% (0 of 2)
Peyer's patch N/A heterozygote 0.0% (0 of 2)
Pituitary gland N/A heterozygote Not available
Prostate gland N/A heterozygote 50% (1 of 2)
Skeletal muscle tissue N/A heterozygote 0.0% (0 of 2)
Skin N/A heterozygote 0.0% (0 of 2)
Small intestine N/A heterozygote 0.0% (0 of 2)
Spinal cord N/A heterozygote 100% (2 of 2)
Spleen N/A heterozygote 50% (1 of 2)
Stomach N/A heterozygote 100% (2 of 2)
Striatum N/A heterozygote Not available
Testis N/A heterozygote 50% (1 of 2)
Thymus N/A heterozygote 0.0% (0 of 2)
Thyroid gland N/A heterozygote Not available
Trachea N/A heterozygote 0.0% (0 of 2)
Uterus N/A heterozygote 0.0% (0 of 2)
White adipose tissue N/A heterozygote 0.0% (0 of 2)
No Embryo expression data was found for this gene.

Background staining occurs in wild type mice and embryos at an incidental rate.

Anatomy Background staining in controls (WT)
adrenal gland 0.0%
aorta 0.0%
blood vessel
bone 0.0%
brain 0.0%
brainstem 0.0%
brown adipose tissue 0.0%
cartilage tissue 0.0%
cerebellum 0.0%
cerebral cortex 0.0%
eye 0.0%
gall bladder 0.0%
heart 0.0%
hippocampus 0.0%
hypothalamus 0.0%
kidney 0.0%
large intestine 0.0%
liver 0.0%
lower urinary tract 0.0%
lung 0.0%
lymph node 0.0%
mammary gland 0.0%
oesophagus
olfactory lobe 0.0%
ovary 0.0%
oviduct 0.0%
pancreas 0.0%
parathyroid gland 0.0%
peripheral nervous system 0.0%
peyer's patch
pituitary gland 0.0%
prostate gland 0.0%
skeletal muscle tissue
skin 0.0%
small intestine 0.0%
spinal cord 0.0%
spleen 0.0%
stomach 0.0%
striatum 0.0%
testis 0.0%
thymus 0.0%
thyroid gland 0.0%
trachea 0.0%
uterus 0.0%
white adipose tissue 0.0%
No Embryo expression data was found for this gene.

Associated Images

Images submitted by IMPC centres for a selection of procedures. Each set of images is available to view in our image comparator.

Histopathology

Images

14 Images

View images
Legacy Phenotype Associated Images
Adam17tm1a(EUCOMM)Wtsi
head, WT, Male, WTSI
Adam17tm1a(EUCOMM)Wtsi
body, WT, Male, WTSI
Adam17tm1a(EUCOMM)Wtsi
head, WT, Male, WTSI
Adam17tm1a(EUCOMM)Wtsi
head, WT, Male, WTSI
Adam17tm1a(EUCOMM)Wtsi
head, HET, Male, WTSI

View all 61 images

Adam17tm1a(EUCOMM)Wtsi
back skin, HET, Female, WTSI
Adam17tm1a(EUCOMM)Wtsi
back skin, HET, Female, WTSI
Adam17tm1a(EUCOMM)Wtsi
back skin, HET, Female, WTSI

Human diseases caused by Adam17 mutations

The analysis uses data from IMPC, along with published data on other mouse mutants, in comparison to human disease reports in OMIM, Orphanet, and DECIPHER.

Phenotype comparisons summarize the similarity of mouse phenotypes with human disease phenotypes.

The table below shows human diseases associated to Adam17 by orthology or direct annotation.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Inflammatory Skin And Bowel Disease, Neonatal, 1
Onychogryposis, Duodenitis, Blepharitis, Pustule, Erythroderma, Paronychia, Villous atrophy OMIM:614328
Neonatal Inflammatory Skin And Bowel Disease
Slow-growing scalp hair, Anal fissure, Bloody diarrhea, Recurrent bacterial skin infections, Hori... ORPHA:294023

The table below shows human diseases predicted to be associated to Adam17 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Athrombia, Essential
Impaired platelet aggregation, Prolonged bleeding time, Impaired platelet adhesion OMIM:209050
Ethanolaminosis
Cardiomegaly, Death in infancy OMIM:227150
Pulmonary Hypoplasia, Primary
Neonatal death, Pulmonary hypoplasia OMIM:265430
Macrothrombocytopenia, Isolated, 1, Autosomal Dominant
Impaired platelet aggregation, Macrothrombocytopenia OMIM:613112
Thrombocytopenia 7
Impaired ADP-induced platelet aggregation, Impaired collagen-induced platelet aggregation, Reduce... OMIM:619130
Renal Hypodysplasia/Aplasia 4
Respiratory failure, Pulmonary hypoplasia OMIM:619887
Thrombocythemia 1
Impaired collagen-induced platelet aggregation, Thrombocytosis, Impaired epinephrine-induced plat... OMIM:187950
Glanzmann Thrombasthenia 2
Impaired epinephrine-induced platelet aggregation, Impaired clot retraction, Decreased platelet g... OMIM:619267
Brittle Cornea Syndrome 1
Red hair, Keratoglobus, Keratoconus, Decreased corneal thickness, Atypical scarring of skin, Dent... OMIM:229200
Platelet Signal Processing Defect
Impaired collagen-induced platelet aggregation, Thrombocytopenia, Impaired epinephrine-induced pl... OMIM:173590
Bleeding Disorder, Platelet-Type, 15
Platelet anisocytosis, Impaired clot retraction, Impaired ADP-induced platelet aggregation, Incre... OMIM:615193
Thrombocytopenia 9
Thrombocytopenia, Abnormal platelet aggregation OMIM:620478
Adenosine Triphosphate, Elevated, Of Erythrocytes
Reduced erythrocyte 2,3-diphosphoglycerate concentration, Polycythemia OMIM:102900
Erythrocytosis, Familial, 8
Reduced erythrocyte bisphosphoglycerate mutase activity, Polycythemia, Increased circulating hemo... OMIM:222800
Cardiofaciocutaneous Syndrome 4
Decreased response to growth hormone stimulation test, Ventricular septal hypertrophy, Abnormal a... OMIM:615280
Bleeding Disorder, Platelet-Type, 24
Platelet anisocytosis, Impaired epinephrine-induced platelet aggregation, Impaired ADP-induced pl... OMIM:619271
Woolly Hair, Autosomal Recessive 3
Trichorrhexis nodosa, Sparse scalp hair, Curly hair, Sparse eyelashes, Sparse hair, Fine hair OMIM:616760
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome
Hypopigmentation of hair, Corneal opacity, Persistent pupillary membrane, Ptosis, Abnormal heart ... ORPHA:1067
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 4B
Apnea, Neonatal death, Pulmonary hypoplasia OMIM:615228
Interstitial Pneumonitis, Desquamative, Familial
Respiratory distress, Type II pneumocyte hypertrophy, Recurrent upper respiratory tract infection... OMIM:263000
Noonan Syndrome 9
Curly hair, Pulmonic stenosis, Ptosis, Downslanted palpebral fissures, Sparse eyebrow, Prominent ... OMIM:616559
Immunodeficiency 95
Respiratory distress, Recurrent viral upper respiratory tract infections, Recurrent viral pneumon... OMIM:619773
Anterior Segment Dysgenesis 5
Microphthalmia, Microcornea, Hypoplasia of the iris, Rieger anomaly, Posterior embryotoxon, Devel... OMIM:604229
Brittle Cornea Syndrome
Corneal erosion, Keratoglobus, Retinal detachment, Corneal dystrophy, Decreased corneal thickness... ORPHA:90354
Uncombable Hair Syndrome 3
Curly hair, Uncombable hair, Pili canaliculi, Brittle hair OMIM:617252
Erythrocytosis, Familial, 7
Polycythemia, Increased circulating hemoglobin concentration, Increased hematocrit OMIM:617981
Erythrocytosis, Familial, 6
Polycythemia, Increased circulating hemoglobin concentration, Increased hematocrit OMIM:617980
Optic Disc Anomalies With Retinal And/Or Macular Dystrophy
Microphthalmia, Retinal dystrophy, Retinal detachment, Corneal scarring, Chorioretinal coloboma, ... OMIM:212550
Epidermolysis Bullosa Dystrophica, Autosomal Recessive
Nail dysplasia, Nail dystrophy, Atrophic scars, Corneal scarring, Abnormal esophagus morphology, ... OMIM:226600
Limbal Stem Cell Deficiency
Opacification of the corneal epithelium, Corneal neovascularization, Cornea verticillata, Blephar... ORPHA:171673
Anterior Segment Dysgenesis 7
Ocular anterior segment dysgenesis, Microphthalmia, Microcornea, Corneal opacity, Sclerocornea, C... OMIM:269400
Erythrocytosis, Familial, 5
Polycythemia, Increased circulating hemoglobin concentration, Increased hematocrit OMIM:617907
Erythrocytosis, Familial, 3
Increased circulating hemoglobin concentration, Increased red blood cell mass, Increased hematocrit OMIM:609820
Spinal Muscular Atrophy, Type I
Respiratory insufficiency, Respiratory failure, Recurrent respiratory infections, Death in childhood OMIM:253300
Megalocornea
Corneal arcus, Iris transillumination defect, Iridodonesis, Astigmatism, Mosaic corneal dystrophy... OMIM:309300
Bleeding Disorder, Platelet-Type, 22
Impaired ADP-induced platelet aggregation, Impaired collagen-induced platelet aggregation, Thromb... OMIM:618462
Renal Hypodysplasia/Aplasia 2
Pulmonary hypoplasia OMIM:615721
Microphthalmia/Coloboma 4
Orbital cyst, Microcornea, Microphthalmia, Coloboma OMIM:251505
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Dominant
Recurrent corneal erosions, Trichiasis, Nail dystrophy, Nail dysplasia, Knee flexion contracture,... OMIM:148210
Ichthyosis, Congenital, Autosomal Recessive 11
Curly eyelashes, Brittle hair, Abnormality of the nail, Corneal opacity, Curly hair, Sparse eyela... OMIM:602400
Macrosomia-Microphthalmia-Cleft Palate Syndrome
Microphthalmia, Hepatomegaly, Microcornea, Corneal opacity, Median cleft palate ORPHA:2432
Muscular Hypertonia, Lethal
Pneumonia, Respiratory distress, Death in infancy OMIM:254120
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome
Abnormal platelet function, Thrombocytopenia ORPHA:231393
Epithelial Recurrent Erosion Dystrophy
Recurrent corneal erosions, Corneal dystrophy, Subepithelial corneal opacities, Corneal scarring,... ORPHA:293381
Surfactant Metabolism Dysfunction, Pulmonary, 3
Exertional dyspnea, Reticular pattern on pulmonary HRCT, Crazy paving pattern, Death in infancy, ... OMIM:610921
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability
Optic atrophy, Microphthalmia, Retinal detachment, Bilateral cleft palate, Corneal opacity, Poste... ORPHA:1473
Microphthalmia/Coloboma 10
Microphthalmia, Anophthalmia, Microcoria, Chorioretinal coloboma, Optic pit, Iris coloboma OMIM:616428
Lattice Corneal Dystrophy Type I
Recurrent corneal erosions, Astigmatism, Central posterior corneal opacity, Central opacification... ORPHA:98964
Alpha-N-Acetylgalactosaminidase Deficiency Type 3
Cataract, Hepatomegaly, Hypertrophic cardiomyopathy ORPHA:79281
Erythrocytosis, Familial, 4
Polycythemia, Increased circulating hemoglobin concentration, Increased hematocrit OMIM:611783
Surfactant Metabolism Dysfunction, Pulmonary, 1
Intraalveolar phospholipid accumulation, Dyspnea, Death in infancy, Respiratory failure, Tachypne... OMIM:265120
Distal Deletion 6P
Abnormal anterior chamber morphology, Corneal opacity, Hypoplasia of the iris, Posterior embryoto... ORPHA:96125
Dermatitis, Atopic
Keratoconus, Atopic dermatitis, Eczematoid dermatitis, Pruritus, Conjunctivitis, Cataract, Recurr... OMIM:603165
Bronchopulmonary Dysplasia
Respiratory failure requiring assisted ventilation, Emphysema, Atelectasis, Respiratory distress,... ORPHA:70589
Atopic Keratoconjunctivitis
Corneal neovascularization, Loss of eyelashes, Abnormal eyelid morphology, Corneal opacity, Corne... ORPHA:163934
Idiopathic Achalasia
Gastroesophageal reflux, Decreased circulating prealbumin concentration, Recurrent aspiration pne... ORPHA:930
Von Willebrand Disease, Platelet-Type
Prolonged bleeding time, Intermittent thrombocytopenia OMIM:177820
Glanzmann Thrombasthenia 1
Impaired epinephrine-induced platelet aggregation, Impaired clot retraction, Impaired platelet ag... OMIM:273800
Mucolipidosis Type Iii
Abnormal aortic valve morphology, Inguinal hernia, Abnormal heart valve morphology, Corneal opaci... ORPHA:577
Peters Anomaly
Developmental glaucoma, Central opacification of the cornea, Subcapsular cataract, Thinning of De... ORPHA:708
Peroxisome Biogenesis Disorder 10A (Zellweger)
Hepatomegaly, High palate, Downslanted palpebral fissures, Epicanthus, Cataract OMIM:614882
Congenital Primary Aphakia
Microphthalmia, Developmental glaucoma, Aniridia, Retinal dysplasia, Aplasia/Hypoplasia affecting... ORPHA:83461
Microcephaly-Microcornea Syndrome, Seemanova Type
Microphthalmia, Microcornea, High palate, Epicanthus, Cataract, Upslanted palpebral fissure ORPHA:2528
Larsen-Like Syndrome, Lethal Type
Respiratory insufficiency, Neonatal death, Pulmonary hypoplasia OMIM:245650
Deaf Blind Hypopigmentation Syndrome, Yemenite Type
High, narrow palate, Hypopigmentation of hair, Abnormal size of the palpebral fissures, Microcorn... ORPHA:3214
Posterior Polymorphous Corneal Dystrophy
Astigmatism, Chorioretinal degeneration, Corneal stromal edema, Corneal opacity, Abnormal Desceme... ORPHA:98973
Hypertrophic Neuropathy And Cataract
Cataract OMIM:239900
Inflammatory Bowel Disease (Infantile Ulcerative Colitis) 31, Autosomal Recessive
Bloody diarrhea, Ulcerative colitis, Elevated circulating C-reactive protein concentration OMIM:619398
Microphthalmia, Isolated, With Cataract 1
Cataract, Microphthalmia OMIM:156850
Primary Pulmonary Hypoplasia
Pneumothorax, Cyanosis, Tachypnea, Hypoxemia, Apnea, Pulmonary hypoplasia, Epicanthus, Recurrent ... ORPHA:2257
Infant Acute Respiratory Distress Syndrome
Pulmonary edema, Atelectasis, Nasal flaring, Hypoxemia, Respiratory tract infection, Pneumonia, R... ORPHA:70587
Hurler-Scheie Syndrome
Hepatomegaly, Abnormal heart valve morphology, Cardiomyopathy, Corneal opacity, Rhinitis, General... ORPHA:93476
Galactosialidosis
Corneal opacity, Cherry red spot of the macula ORPHA:351
Herpes Simplex Virus Stromal Keratitis
Deep anterior chamber, Corneal stromal edema, Descemet Membrane Folds, Conjunctival hyperemia, He... ORPHA:137599
Uncombable Hair Syndrome 2
Juvenile cataract, Uncombable hair, Pili canaliculi OMIM:617251
Pulmonic Stenosis And Deafness
Pulmonic stenosis, Ventricular hypertrophy OMIM:178651
Hypotrichosis 4
Uncombable hair, Sparse scalp hair, Sparse eyelashes, Sparse body hair, Sparse eyebrow, Alopecia OMIM:146550
Respiratory Distress Syndrome In Premature Infants
Pulmonary edema, Atelectasis, Respiratory distress, Dyspnea, Tachypnea, Neonatal respiratory dist... OMIM:267450
Copper Deficiency, Familial Benign
Decreased circulating copper concentration, Seborrheic dermatitis, Curly hair, Failure to thrive,... OMIM:121270
Isolated Congenital Hypoglossia/Aglossia
Dyspnea, Aspiration pneumonia, Respiratory distress ORPHA:141152
Noonan Syndrome 4
Bilateral ptosis, High anterior hairline, Hypertrophic cardiomyopathy, Curly hair, Pulmonic steno... OMIM:610733
Von Willebrand Disease, X-Linked Form
Prolonged bleeding time OMIM:314560
Noonan Syndrome 10
High palate, Hypertrophic cardiomyopathy, Cryptorchidism, Pulmonic stenosis, Ptosis, Downslanted ... OMIM:616564
Bilateral Acute Depigmentation Of The Iris
Abnormal anterior chamber morphology, Abnormal corneal endothelium morphology, Iris pigment dispe... ORPHA:69736
Insensitivity To Pain, Congenital, With Anhidrosis
Recurrent corneal erosions, Nail dysplasia, Nail dystrophy, Corneal ulceration, Corneal scarring,... OMIM:256800
Cornea Plana 2, Autosomal Recessive
Corneal arcus, Microphthalmia, Decreased corneal thickness, Corneal opacity, Sclerocornea, Flat c... OMIM:217300
X-Linked Retinoschisis
Cataract, Retinoschisis ORPHA:792
Leber Congenital Amaurosis 2
Keratoconus, Optic disc pallor, Fundus atrophy, Attenuation of retinal blood vessels, Cataract, A... OMIM:204100
Corneal Dystrophy, Fuchs Endothelial, 6
Corneal stromal edema, Corneal dystrophy, Corneal guttata, Abnormal Descemet membrane morphology,... OMIM:613270
Gómez-López-Hernández Syndrome
Alopecia of scalp, Corneal opacity, Toenail dysplasia, Telecanthus ORPHA:1532
Vitreoretinal Degeneration, Snowflake Type
Retinal detachment, Retinal dots, Corneal guttata, Optically empty vitreous, Cataract, Snowflake ... OMIM:193230
Combined Oxidative Phosphorylation Deficiency 8
Death in childhood, Pulmonary hypoplasia, Neonatal death, Death in infancy OMIM:614096
Woolly Hair Nevus
Woolly scalp hair, Persistent pupillary membrane, Heterochromia iridis, Curly hair, Congenital po... ORPHA:79414
Corneal Dystrophy, Posterior Polymorphous, 1
Abnormal corneal endothelium morphology, Band keratopathy, Iris atrophy, Corneal opacity, Abnorma... OMIM:122000
Ventricular Septal Defect 1
Atrioventricular canal defect, Pulmonic stenosis, Tetralogy of Fallot, Atrial septal defect, Vent... OMIM:614429
Phacoanaphylactic Uveitis
Cystoid macular edema, Hyphema, Corneal keratic precipitates, Anterior uveitis, Panuveitis, Pseud... ORPHA:209959
Bleeding Disorder, Platelet-Type, 18
Prolonged bleeding time, Impaired epinephrine-induced platelet aggregation, Impaired ADP-induced ... OMIM:615888
Corneal Dystrophy-Perceptive Deafness Syndrome
Corneal dystrophy, Corneal opacity ORPHA:1490
Pulmonary Nodular Lymphoid Hyperplasia
Nodular pattern on pulmonary HRCT, Dyspnea ORPHA:60026
Microphthalmia/Coloboma 5
Bilateral microphthalmos, Microphthalmia, Anophthalmia, Chorioretinal coloboma, Iris coloboma OMIM:611638
Leber Congenital Amaurosis 1
Hepatomegaly, Optic disc drusen, Keratoconus, Fundus atrophy, Attenuation of retinal blood vessel... OMIM:204000
Granulomas, Congenital Cerebral
Neonatal death OMIM:306300
Genitourinary Tract Anomalies
Neonatal death OMIM:305690
Porphyria Cutanea Tarda
Scarring, Ectropion, Hirsutism, Hepatocellular carcinoma, Corneal scarring, Recurrent bacterial s... ORPHA:101330
Asbestos Intoxication
Abnormal pulmonary interstitial morphology, Pleural thickening, Atelectasis, Exertional dyspnea, ... ORPHA:2302
Pulmonary Blastoma
Recurrent pneumonia, Pleuropulmonary blastoma, Dyspnea ORPHA:64741
Mitochondrial Complex I Deficiency, Nuclear Type 35
Neonatal respiratory distress, Neonatal death, Pulmonary hypoplasia OMIM:619003
Surfactant Metabolism Dysfunction, Pulmonary, 2
Respiratory distress, Respiratory insufficiency, Intraalveolar phospholipid accumulation, Nonspec... OMIM:610913
Corneal Dystrophy, Posterior Polymorphous, 2
Corneal dystrophy, Corneal opacity OMIM:609140
Congenital Rubella Syndrome
Microphthalmia, Hepatomegaly, Aplasia/Hypoplasia of the iris, Skin rash, Corneal opacity, Abnorma... ORPHA:290
Thumb, Hypoplastic, With Choroid Coloboma, Poorly Developed Antihelix, And Deafness
Cataract, Cryptorchidism, Chorioretinal coloboma OMIM:274205
Bleeding Disorder, Platelet-Type, 13, Susceptibility To
Abnormal platelet count, Impaired thromboxane A2 agonist-induced platelet aggregation, Impaired a... OMIM:614009
Deafness, Autosomal Dominant 1, With Or Without Thrombocytopenia
Impaired platelet aggregation, Thrombocytopenia, Macrothrombocytopenia OMIM:124900
Spinocerebellar Degeneration-Corneal Dystrophy Syndrome
Corneal dystrophy, Corneal opacity ORPHA:3177
Spondylospinal Thoracic Dysostosis
Pulmonary hypoplasia, Multiple pterygia OMIM:601809
Congenital Ichthyosiform Erythroderma
Ectropion, Corneal erosion, Abnormality of the nail, Keratitis, Erythroderma, Pruritus, Alopecia ORPHA:79394
Woolly Hair
Hypopigmentation of hair, Brittle hair, Slow-growing hair, Abnormality of hair texture, Woolly ha... ORPHA:170
Traboulsi Syndrome
Microphthalmia, Spherophakia, Phakodonesis, Iris atrophy, High palate, Ectopia lentis, Shallow an... OMIM:601552
Winchester Syndrome
Hirsutism, Corneal opacity OMIM:277950
Ringed Hair Disease
Fine hair, Abnormal hair pattern ORPHA:169
Pigmentary Disorder, Reticulate, With Systemic Manifestations, X-Linked
Broad eyebrow, Corneal scarring, Recurrent pneumonia, Bronchiectasis, Frontal upsweep of hair, Co... OMIM:301220
Noonan Syndrome 8
Hypertrophic cardiomyopathy, Cryptorchidism, Pulmonic stenosis, Ptosis, Downslanted palpebral fis... OMIM:615355
Corneal Dystrophy, Fuchs Endothelial, 1
Corneal degeneration, Corneal stromal edema, Corneal dystrophy, Descemet Membrane Folds, Corneal ... OMIM:136800
Leber Congenital Amaurosis 6
Cataract, Keratoconus, Attenuation of retinal blood vessels OMIM:613826
Pleural Mesothelioma
Respiratory distress, Dyspnea, Pleural effusion, Abnormal lung morphology, Abnormal pleura morpho... ORPHA:50251
Polycythemia Vera
Increased red blood cell mass, Leukocytosis, Increased circulating hemoglobin concentration, Thro... OMIM:263300
Congenital Diaphragmatic Hernia
Hypoxemia, Pulmonary hypoplasia, Respiratory distress ORPHA:2140
Pili Bifurcati
Abnormality of hair texture, Abnormal hair morphology ORPHA:720
Trichothiodystrophy 4, Nonphotosensitive
Optic atrophy, Trichorrhexis nodosa, Microphthalmia, Nail dystrophy, Nail dysplasia, Brittle hair... OMIM:234050
Microphthalmia With Brain And Digit Anomalies
Nail dysplasia, Microphthalmia, Retinal dystrophy, Anophthalmia, Microcornea, High palate, Sclero... ORPHA:139471
Craniofacial Anomalies And Anterior Segment Dysgenesis Syndrome
Ocular anterior segment dysgenesis, Small pituitary gland, Band keratopathy, Optic disc pallor, H... OMIM:614195
Neurotrophic Keratopathy
Recurrent corneal erosions, Astigmatism, Corneal ulceration, Corneal stromal edema, Corneal scarr... ORPHA:137596
Congenital Hereditary Endothelial Dystrophy Type Ii
Corneal stromal edema, Corneal opacity, Abnormal Descemet membrane morphology, Increased corneal ... ORPHA:293603
Costello Syndrome
Narrow palate, Hypoplastic toenails, Gastroesophageal reflux, Abnormal hair morphology, Keratocon... ORPHA:3071
Intermediate Uveitis
Cystoid macular edema, Optic neuritis, Vitreous floaters, Vitreous snowballs, Vasculitis, Band ke... ORPHA:279914
Trichohepatoenteric Syndrome 2
Trichorrhexis nodosa, Villous atrophy, Brittle hair, Diarrhea, Chronic diarrhea, Bloody diarrhea,... OMIM:614602
Khan-Khan-Katsanis Syndrome
Trichiasis, Highly arched eyebrow, Patent foramen ovale, Corneal scarring, Tricuspid regurgitatio... OMIM:618460
Leber Congenital Amaurosis 4
Keratoconus, Cone/cone-rod dystrophy, Attenuation of retinal blood vessels, Macular atrophy, Opti... OMIM:604393
Cardiofaciocutaneous Syndrome 2
High palate, Curly hair, Absent eyebrow, Ptosis, Sparse hair, Mitral valve prolapse, Fine hair OMIM:615278
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5
Microphthalmia, Retinal detachment, Coloboma, Corneal opacity, Low anterior hairline, Left ventri... OMIM:613153
Microphthalmia, Syndromic 16
Ankyloblepharon, Microphthalmia, Sclerocornea, Anophthalmia OMIM:611038
Idiopathic Pulmonary Fibrosis
Abnormal pulmonary interstitial morphology, Exertional dyspnea, Reticular pattern on pulmonary HR... ORPHA:2032
Trisomy 13
Optic atrophy, Microphthalmia, High, narrow palate, Anophthalmia, Aplasia/Hypoplasia of the iris,... ORPHA:3378
Hydrops Fetalis, Nonimmune, With Gracile Bones And Dysmorphism
Pulmonary hypoplasia OMIM:613124
Inflammatory Bowel Disease (Crohn Disease) 1
Intestinal obstruction, Recurrent aphthous stomatitis, Diarrhea, Abdominal pain, Crohn's disease,... OMIM:266600
Corneal Dystrophy, Endothelial, X-Linked
Band keratopathy, Corneal dystrophy, Corneal opacity OMIM:300779
Leber Congenital Amaurosis 7
Cataract, Keratoconus OMIM:613829
Corneal Dystrophy, Thiel-Behnke Type
Juvenile epithelial corneal dystrophy, Corneal dystrophy, Corneal scarring OMIM:602082
Bleeding Disorder, Platelet-Type, 11
Impaired collagen-induced platelet aggregation, Abnormal platelet count, Prolonged bleeding time,... OMIM:614201
Pneumocystosis
Respiratory failure requiring assisted ventilation, Exertional dyspnea, Acute infectious pneumoni... ORPHA:723
Mucous Membrane Pemphigoid
Atypical scarring of skin, Corneal opacity ORPHA:46486
Hereditary Motor And Sensory Neuropathy, Okinawa Type
Respiratory failure requiring assisted ventilation, Respiratory failure, Dyspnea, Aspiration pneu... ORPHA:90117
Oculoauricular Syndrome
Microphakia, Microphthalmia, Phthisis bulbi, Nasolacrimal duct obstruction, Ocular anterior segme... OMIM:612109
Mesomelic Dwarfism-Cleft Palate-Camptodactyly Syndrome
Abnormal lung lobation, Pulmonary hypoplasia ORPHA:2631
Spinal Muscular Atrophy-Dandy-Walker Malformation-Cataracts Syndrome
Cataract ORPHA:73245
Neuropathy, Hereditary Sensory And Autonomic, Type Viii
Recurrent skin infections, Corneal scarring, Gastrointestinal dysmotility, Corneal ulceration OMIM:616488
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive
Microphthalmia, Iris coloboma, Microcornea, Corneal opacity, Retinal nonattachment, Remnants of t... OMIM:221900
Hydrocephaly-Cerebellar Agenesis Syndrome
Cataract ORPHA:1397
Cataract And Congenital Ichthyosis
Cataract OMIM:212400
Deafness, Cataract, Retinitis Pigmentosa, And Sperm Abnormalities
Cataract, Rod-cone dystrophy OMIM:300719
Leber Congenital Amaurosis 8
Macular coloboma, Keratoconus, Chorioretinal atrophy, Nummular pigmentation of the fundus, Chorio... OMIM:613835
Brittle Cornea Syndrome 2
Inguinal hernia, Keratoglobus, Keratoconus, Decreased corneal thickness, Megalocornea, Sclerocorn... OMIM:614170
Chops Syndrome
Optic atrophy, High, narrow palate, Thick hair, Gastroesophageal reflux, Patent foramen ovale, An... OMIM:616368
Cataract-Microcornea Syndrome
Microcornea, Corneal dystrophy, Corneal opacity, Cataract, Iris coloboma ORPHA:1377
Hereditary Bullous Dystrophy, Macular Type
Nail dystrophy, Pneumonia, Corneal opacity, Atrichia, Decreased testicular size, Abnormal heart m... ORPHA:1867
Microphthalmia, Syndromic 13
Microphthalmia, Microcornea, Ptosis, Chorioretinal coloboma, Iris coloboma OMIM:300915
2Q24 Microdeletion Syndrome
Microphthalmia, Abnormality iris morphology, Coloboma, Camptodactyly of finger, Downslanted palpe... ORPHA:1617
Fuchs Endothelial Corneal Dystrophy
Abnormal Descemet membrane morphology, Abnormal corneal endothelium morphology, Reduced number of... ORPHA:98974
Lethal Congenital Contracture Syndrome 11
Pulmonary hypoplasia OMIM:617194
Corneal Dystrophy, Fuchs Endothelial, 3
Corneal stromal edema, Corneal opacity, Corneal guttata OMIM:613267
Noonan Syndrome-Like Disorder With Loose Anagen Hair 1
Astigmatism, Loose anagen hair, Aortic regurgitation, Inguinal hernia, High palate, Sparse scalp ... OMIM:607721
Arthrogryposis, Distal, Type 5
Astigmatism, Keratoglobus, Keratoconus, High palate, Congenital finger flexion contractures, Ptos... OMIM:108145
Congenital Pulmonary Airway Malformation
Respiratory insufficiency, Abnormal pleura morphology ORPHA:2444
Congenital Myopathy 21 With Early Respiratory Failure
Respiratory failure, Lipoid pneumonia, Nocturnal hypoventilation, Dyspnea OMIM:620326
Ciliary Dyskinesia, Primary, 47, And Lissencephaly
Bronchiectasis, Recurrent respiratory infections, Atelectasis, Respiratory distress OMIM:619466
Fallot Complex With Severe Mental And Growth Retardation
Pulmonic stenosis, Double outlet right ventricle, Ventricular septal defect, Tetralogy of Fallot OMIM:601127
Cataract 9, Multiple Types
Microphthalmia, Microcornea, Progressive cataract, Developmental cataract, Cataract, Iris coloboma OMIM:604219
Corneal Dystrophy, Congenital Stromal
Band-shaped corneal dystrophy, Corneal dystrophy, Increased corneal thickness, Corneal erosion OMIM:610048
Trichomegaly
Cataract, Long eyelashes OMIM:190330
Greig Cephalopolysyndactyly Syndrome
Nail dysplasia, Inguinal hernia, Keratoconus, Hirsutism, Anal atresia, Omphalocele, Camptodactyly... OMIM:175700
Bilateral Striopallidodentate Calcinosis
Hepatomegaly, Corneal opacity ORPHA:1980
Foveal Hypoplasia-Presenile Cataract Syndrome
Optic atrophy, Cataract ORPHA:2253
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome
Hypoalbuminemia, Obesity, Colitis ORPHA:88643
Pulmonic Stenosis
Pulmonic stenosis OMIM:265500
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome
Microphthalmia, Esophageal atresia, Anophthalmia, Tracheoesophageal fistula, Cryptorchidism, Scle... ORPHA:77298
Palmoplantar Keratoderma, Epidermolytic, 2
Curly hair OMIM:620411
Acute Lung Injury
Abnormal pulmonary interstitial morphology, Respiratory distress, Dyspnea, Respiratory failure, H... ORPHA:178320
Anophthalmia-Megalocornea-Cardiopathy-Skeletal Anomalies Syndrome
Tricuspid valve prolapse, Abnormal vitreous humor morphology, High, narrow palate, Aniridia, Ingu... ORPHA:1101
Cataract 35
Cataract OMIM:609376
Hereditary Hyperferritinemia-Cataract Syndrome
Cataract ORPHA:163
Cataract 29
Cataract OMIM:115800
Cataract 36
Cataract OMIM:613887
Inflammatory Bowel Disease 29
Crohn's disease, Ulcerative colitis OMIM:618077
Corneal Dystrophy, Fuchs Endothelial, 2
Corneal degeneration, Corneal dystrophy, Corneal guttata OMIM:610158
Corneal Endothelial Dystrophy
Abnormal Descemet membrane morphology, Increased corneal thickness, Corneal dystrophy, Opacificat... OMIM:217700
X-Linked Dominant Chondrodysplasia Punctata
Microphthalmia, Scarring alopecia of scalp, Abnormality of the nail, Microcornea, High palate, Pa... ORPHA:35173
Microcephaly With Or Without Chorioretinopathy, Lymphedema, Or Impaired Intellectual Development
Optic atrophy, Microphthalmia, Astigmatism, Myopic astigmatism, Retinal detachment, Microcornea, ... OMIM:152950
Neurodevelopmental Disorder With Spasticity, Hypomyelinating Leukodystrophy, And Brain Abnormalities
Pulmonary hypoplasia OMIM:616531
Dermoids Of Cornea
Corneal opacity OMIM:304730
Congenital Lobar Emphysema
Emphysema, Respiratory distress ORPHA:1928
Severe Acute Respiratory Syndrome
Respiratory failure requiring assisted ventilation, Respiratory distress, Acute infectious pneumo... ORPHA:140896
Trichothiodystrophy 1, Photosensitive
Trichorrhexis nodosa, Microphthalmia, Nail dystrophy, Intestinal obstruction, Brittle hair, Small... OMIM:601675
Cataract 21, Multiple Types
Retinal detachment, Microcornea, Corneal opacity, Cortical pulverulent cataract, Peters anomaly, ... OMIM:610202
Larsen-Like Osseous Dysplasia-Short Stature Syndrome
Corneal opacity, Abnormal cardiac septum morphology ORPHA:2370
Pulmonary Atresia-Intact Ventricular Septum Syndrome
Abnormal tricuspid valve morphology ORPHA:1208
X-Linked Endothelial Corneal Dystrophy
Abnormal corneal endothelium morphology, Nuclear cataract, Corneal opacity, Band keratopathy ORPHA:293621
Microphthalmia, Syndromic 12
Neonatal death, Pulmonary hypoplasia OMIM:615524
Neuropathy, Hereditary Sensory And Autonomic, Type Vi
Gastroesophageal reflux, Bradycardia, Hypertension, High palate, Corneal scarring, Retinal hemorr... OMIM:614653
Chromosome 1P36.33 Duplication Syndrome, Atad3 Gene Cluster, Autosomal Dominant
Bradycardia, Corneal opacity, Hypertrophic cardiomyopathy, Developmental cataract, Flexion contra... OMIM:618815
Bleeding Disorder, Platelet-Type, 16
Platelet anisocytosis, Giant platelets, Impaired platelet aggregation, Thrombocytopenia, Macrothr... OMIM:187800
Stickler Syndrome Type 2
Abnormal vitreous humor morphology, Retinal detachment, Corneal opacity, Retinopathy, Cleft palat... ORPHA:90654
Corneal Dystrophy, Fuchs Endothelial, 4
Corneal dystrophy, Corneal guttata OMIM:613268
Larynx Atresia
Respiratory insufficiency, Recurrent respiratory infections ORPHA:1202
Foveal Hypoplasia 2
Optic nerve misrouting, Microphthalmia, Astigmatism, Foveal hyperpigmentation, Axenfeld anomaly, ... OMIM:609218
Nphp3-Related Meckel-Like Syndrome
Pulmonary hypoplasia ORPHA:3032
Noonan Syndrome 5
Small nail, Hypertrophic cardiomyopathy, Curly hair, Pulmonic stenosis, Ptosis, Downslanted palpe... OMIM:611553
Anterior Segment Dysgenesis 2
Microphthalmia, Aniridia, Microcornea, Coloboma, Corneal opacity, Congenital aphakia, Anterior se... OMIM:610256
Noonan Syndrome 6
Bilateral ptosis, Long eyebrows, Hypertrophic cardiomyopathy, Low posterior hairline, Pulmonic st... OMIM:613224
Vernal Keratoconjunctivitis
Scarring, Corneal neovascularization, Corneal ulceration, Keratoconus, Keratoconjunctivitis, Punc... ORPHA:70476
Arthrogryposis Multiplex Congenita 1, Neurogenic, With Myelin Defect
Stillbirth, Ptosis, Pulmonary hypoplasia OMIM:617468
Keratoconus 9
Keratoconus, Decreased corneal thickness OMIM:617928
Combined Oxidative Phosphorylation Deficiency 51
Respiratory failure, Neonatal respiratory distress, Aspiration pneumonia OMIM:619057
Cranioacrofacial Syndrome
Pulmonic stenosis, Ventricular septal defect OMIM:122850
Bowen-Conradi Syndrome
Abnormal lung lobation, Death in infancy ORPHA:1270
Diamond-Blackfan Anemia 16
Pulmonic stenosis, Atrial septal defect OMIM:617408
Platelet Disorder, Undefined
Impaired platelet aggregation, Prolonged bleeding time, Thrombocytopenia OMIM:173420
Nathalie Syndrome
Cataract, Arrhythmia ORPHA:2663
Intellectual Developmental Disorder, X-Linked, Syndromic, Armfield Type
Cataract, Cleft palate OMIM:300261
Spinal Muscular Atrophy With Congenital Bone Fractures 2
Respiratory failure, Neonatal respiratory distress, Pulmonary hypoplasia OMIM:616867
Mitochondrial Dna Depletion Syndrome, Myopathic Form
Bilateral ptosis, Respiratory distress, Respiratory insufficiency, Ventilator dependence with ina... ORPHA:254875
Corneal Dystrophy, Posterior Polymorphous, 3
Inguinal hernia, Keratoconus, Corneal dystrophy, Corneal guttata, Ectopia pupillae OMIM:609141
Anterior Segment Dysgenesis 6
Corneal neovascularization, Developmental glaucoma, Corneal opacity, Abnormal Descemet membrane m... OMIM:617315
Cardiomyopathy, Dilated, 2E
Dilated cardiomyopathy, Ebstein anomaly of the tricuspid valve OMIM:619492
Acute Interstitial Pneumonia
Atelectasis, Pleural effusion, Dyspnea, Bronchiectasis, Respiratory failure, Tachypnea, Hypoxemia... ORPHA:79126
Noonan Syndrome 7
Abnormal esophagus morphology, Hypertrophic cardiomyopathy, Low posterior hairline, Pulmonic sten... OMIM:613706
Arrhythmogenic Cardiomyopathy With Variable Ectodermal Abnormalities
Nail dystrophy, Ventricular bigeminy, Corneal opacity, Myofiber disarray, Bicuspid aortic valve, ... OMIM:620519
Harel-Yoon Syndrome
Optic atrophy, Corneal opacity, Hypertrophic cardiomyopathy, Developmental cataract, Upslanted pa... OMIM:617183
Renal Tubular Dysgenesis
Pulmonary hypoplasia ORPHA:3033
Cortical Dysplasia, Complex, With Other Brain Malformations 4
Cataract OMIM:615412
Glaucoma, Primary Closed-Angle
Increased cup-to-disc ratio, Anterior synechiae of the anterior chamber OMIM:618880
Leber Congenital Amaurosis
Cataract, Keratoconus, Abnormality of retinal pigmentation, Abnormal optic disc morphology ORPHA:65
Leber Congenital Amaurosis 9
Optic atrophy, Macular coloboma, Macular hypopigmentation, Bone spicule pigmentation of the retin... OMIM:608553
Glaucoma 3, Primary Congenital, D
Primary congenital glaucoma, Ectopia lentis, Corneal opacity OMIM:613086
Hypogonadotropic Hypogonadism-Severe Microcephaly-Sensorineural Hearing Loss-Dysmorphism Syndrome
Congenital stationary night blindness, Highly arched eyebrow, Decreased corneal thickness, Hirsut... ORPHA:293967
Acne Inversa, Familial, 3
Recurrent cutaneous abscess formation, Acne inversa, Chronic furunculosis, Perifolliculitis OMIM:613737
Erythrokeratodermia Variabilis
Abnormal hair morphology, Abnormality of the nail, Skin rash, Corneal opacity, Abnormal testis mo... ORPHA:317
Tracheal Agenesis
Respiratory insufficiency, Aplasia/Hypoplasia of the lungs ORPHA:3346
Ciliary Dyskinesia, Primary, 5
Respiratory insufficiency due to defective ciliary clearance, Nasal polyposis, Recurrent sinusiti... OMIM:608647
X-Linked Intellectual Disability, Stocco Dos Santos Type
Cataract, Hirsutism, Epicanthus ORPHA:85288
Idiopathic Acute Eosinophilic Pneumonia
Respiratory insufficiency, Abnormal pleura morphology, Abnormal pattern of respiration ORPHA:724
Ichthyosis, Hystrix-Like, With Deafness
Scarring alopecia of scalp, Absent eyelashes, Sparse scalp hair, Punctate keratitis, Sparse eyela... OMIM:602540
Oculofaciocardiodental Syndrome
Microphthalmia, Iris coloboma, Retinal detachment, Highly arched eyebrow, Microcornea, Flexion co... ORPHA:2712
Microtriplication 11Q24.1
Keratoconus, Synophrys, Long eyelashes, Cleft palate, Thick eyebrow, Upslanted palpebral fissure ORPHA:289522
High Altitude Pulmonary Edema
Pulmonary edema, Dyspnea, Hypoxemia, Orthopnea, Tachypnea, Cyanosis ORPHA:330012
Recurrent Respiratory Papillomatosis
Atelectasis, Respiratory distress, Respiratory insufficiency, Dyspnea, Abnormal lung morphology, ... ORPHA:60032
Hereditary Pulmonary Alveolar Proteinosis
Respiratory failure requiring assisted ventilation, Respiratory distress, Acute infectious pneumo... ORPHA:264675
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2
Optic atrophy, Microphthalmia, Microcornea, Retinopathy, Cataract, Macular atrophy, Optic disc pa... OMIM:616171
Trichohepatoneurodevelopmental Syndrome
Ectropion, Steatorrhea, Splenomegaly, Recurrent pancreatitis, Astigmatism, Woolly hair, Curly hai... OMIM:618268
Lung Agenesis, Congenital Heart Defects, And Thumb Anomalies Syndrome
Respiratory insufficiency, Neonatal death, Bilateral lung agenesis OMIM:601612
Inflammatory Bowel Disease 11
Diarrhea, Abdominal pain, Inflammation of the large intestine, Hematochezia, Weight loss OMIM:191390
Corneal Dystrophy, Fuchs Endothelial, 8
Corneal dystrophy, Corneal guttata OMIM:615523
Oculodentodigital Dysplasia
Optic atrophy, Brittle hair, Abnormality iris morphology, Slow-growing hair, Microcornea, Abnorma... ORPHA:2710
Microcephaly-Lymphedema-Chorioretinopathy Syndrome
Microphthalmia, Abnormal optic nerve morphology, Retinopathy, Cellulitis, Chorioretinal dysplasia... ORPHA:2526
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome
Microphthalmia, Anophthalmia, Microcornea, Coloboma, Long eyelashes, Cryptophthalmos, Sclerocorne... OMIM:615877
Familial Nasal Acilia
Atelectasis, Respiratory distress, Dyspnea, Abnormal respiratory motile cilium morphology, Recurr... ORPHA:922
Severe Early-Childhood-Onset Retinal Dystrophy
Granular macular appearance, Macular coloboma, Abnormal corneal endothelium morphology, Bone spic... ORPHA:364055
Porphyria, Congenital Erythropoietic
Joint contracture of the hand, Hepatomegaly, Loss of eyelashes, Cholelithiasis, Increased fecal c... OMIM:263700
Oculomaxillofacial Dysostosis
Sparse or absent eyelashes, Abnormal eyelid morphology, Abnormal eyelash morphology, Corneal opac... ORPHA:1794
Keratoconus 1
Keratoconus, Astigmatism OMIM:148300
Congenital Myopathy 1B, Autosomal Recessive
Respiratory insufficiency, Ptosis, Recurrent respiratory infections, Pulmonary hypoplasia OMIM:255320
Distal Duplication 14Q
Abnormal lung lobation ORPHA:1705
Marsili Syndrome
Corneal scarring OMIM:147430
Ocular Anomalies-Axonal Neuropathy-Developmental Delay Syndrome
Optic atrophy, Optic nerve hypoplasia, Corneal opacity, Hypertrophic cardiomyopathy, Cataract, Cr... ORPHA:496790
Walker-Warburg Syndrome
Optic atrophy, Microphthalmia, Retinal dystrophy, Retinal dysplasia, Retinal detachment, Anophtha... ORPHA:899
Iridocorneal Endothelial Syndrome
Polycoria, Iris nevus, Posterior synechiae of the anterior chamber, Corneal stromal edema, Iris a... ORPHA:64734
Frontonasal Dysplasia 1
Joint contracture of the hand, Microphthalmia, Pericallosal lipoma, Frontal cutaneous lipoma, Col... OMIM:136760
Microphthalmia, Isolated 5
Microphthalmia, Bone spicule pigmentation of the retina, Foveoschisis, Cystoid macular edema, Opt... OMIM:611040
Cataract 11, Multiple Types
Cataract, Microphthalmia, Developmental cataract OMIM:610623
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 1
Microphthalmia, Retinal dystrophy, Cardiomyopathy, Developmental cataract, Flexion contracture, M... OMIM:613155
Coenzyme Q10 Deficiency, Primary, 8
Pulmonary hypoplasia, Respiratory distress OMIM:616733
Uncombable Hair Syndrome
Abnormal hair morphology, White hair, Patchy alopecia, Woolly hair, Trichodysplasia, Coarse hair ORPHA:1410
Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Impaired Intellectual Development
Microphthalmia, Cleft palate, Chorioretinal coloboma, Cataract, Iris coloboma OMIM:120433
Peroxisome Biogenesis Disorder 8A (Zellweger)
Cataract, Ventricular septal defect, Glossoptosis, Hepatomegaly OMIM:614876
Spondylo-Ocular Syndrome
Microphthalmia, Aplasia/Hypoplasia of the lens, Retinal detachment, Low posterior hairline, Iris ... ORPHA:85194
Immunodeficiency 51
Chronic oral candidiasis, Recurrent otitis media, Chronic mucocutaneous candidiasis, Pustular ras... OMIM:613953
Braddock-Carey Syndrome 1
Telecanthus, Camptodactyly, Curly hair, Enamel hypoplasia, Downslanted palpebral fissures, Cleft ... OMIM:619980
Pulmonary Alveolar Proteinosis, Acquired
Lung abscess, Intraalveolar phospholipid accumulation, Dyspnea, Hypoxemia, Pneumonia, Recurrent r... OMIM:610910
Noonan Syndrome 2
Cardiomyopathy, Low posterior hairline, Pulmonic stenosis, Mitral valve prolapse, Bicuspid aortic... OMIM:605275
Gnb5-Related Intellectual Disability-Cardiac Arrhythmia Syndrome
Sick sinus syndrome, Gastroesophageal reflux, Bradycardia, Keratoconus, Patent foramen ovale, Ven... ORPHA:542306
Staphylococcal Necrotizing Pneumonia
Pneumothorax, Pulmonary pneumatocele, Respiratory distress, Acute infectious pneumonia, Pleural e... ORPHA:36238
Neurooculocardiogenitourinary Syndrome
Microphthalmia, Peters anomaly, Patent foramen ovale, Coloboma, Tricuspid regurgitation, Bilatera... OMIM:618652
Ring Dermoid Of Cornea
Abnormal cornea morphology, Abnormal corneal limbus morphology, Corneal astigmatism, Abnormal con... OMIM:180550
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts
Microphthalmia, Hepatomegaly, Cryptorchidism, Cataract, Ventricular septal defect, Optic disc pallor OMIM:613730
Hypoplastic Left Heart Syndrome 2
Hypoplastic left heart, Mitral atresia, Ventricular septal defect, Aortic valve atresia OMIM:614435
Idiopathic Panuveitis
Choroidal neovascularization, Cystoid macular edema, Vitreous floaters, Vitreous snowballs, Conju... ORPHA:280921
Keratoendotheliitis Fugax Hereditaria
Conjunctival hyperemia, Epiretinal membrane, Opacification of the corneal stroma, Keratitis OMIM:148200
Lymphoproliferative Syndrome, X-Linked, 2
Decreased circulating antibody level, Folliculitis, Inflammation of the large intestine, Acne, Er... OMIM:300635
Congenital Sialidosis Type 2
Optic atrophy, Hepatomegaly, Yellow/white lesions of the retina, Inguinal hernia, Generalized hyp... ORPHA:93400
Warburg Micro Syndrome 1
Optic atrophy, Microphthalmia, Microcornea, Ptosis, Developmental cataract, Cryptorchidism, Facia... OMIM:600118
Proboscis Lateralis
Microphthalmia, Optic nerve hypoplasia, Corneal opacity, Abnormal eyebrow morphology, Nasolacrima... ORPHA:141099
Microphthalmia, Syndromic 5
Microphthalmia, Retinal dystrophy, Anophthalmia, Optic nerve hypoplasia, Microcornea, Coloboma, C... OMIM:610125
Optic Atrophy 3, Autosomal Dominant
Optic atrophy, Cataract, Optic disc pallor OMIM:165300
Naxos Disease
Abnormality of hair texture, Sparse scalp hair, Woolly hair, Curly hair ORPHA:34217
Long-Olsen-Distelmaier Syndrome
Congestive heart failure, Microspherophakia, Optic nerve hypoplasia, Cataract, Downslanted palpeb... OMIM:620609
Erythrocytosis, Familial, 1
Increased circulating hemoglobin concentration, Increased red blood cell mass, Splenomegaly, Incr... OMIM:133100
Aids Wasting Syndrome
Anorexia, Cachexia, Malabsorption, Weight loss, Malnutrition ORPHA:90081
Naxos Disease
Nail dystrophy, Paroxysmal ventricular tachycardia, Premature ventricular contraction, Abnormal h... OMIM:601214
Dissecting Cellulitis Of The Scalp
Recurrent skin infections, Pruritus, Abnormal hair morphology ORPHA:345
Refsum Disease, Classic
Congestive heart failure, Cardiomyopathy, Cataract, Ptosis, Arrhythmia, Cardiomegaly, Retinal deg... OMIM:266500
Developmental Delay With Variable Neurologic And Brain Abnormalities
Microphthalmia, Astigmatism, Camptodactyly, Long palpebral fissure, Sparse lateral eyebrow, Knee ... OMIM:619694
Aldh18A1-Related De Barsy Syndrome
Cataract ORPHA:35664
Pili Torti-Developmental Delay-Neurological Abnormalities Syndrome
Abnormality of hair texture, Sparse or absent eyelashes, Pili torti, Aplasia/Hypoplasia of the ey... ORPHA:2891
Leopard Syndrome 3
Abnormal aortic valve morphology, Low posterior hairline, Curly hair, Abnormal mitral valve morph... OMIM:613707
Masp2 Deficiency
Recurrent pneumonia, Ulcerative colitis OMIM:613791
Microcephaly And Chorioretinopathy, Autosomal Recessive, 1
Microphthalmia, Retinal dystrophy, Retinal detachment, Abnormality of retinal pigmentation, Catar... OMIM:251270
Dehydrated Hereditary Stomatocytosis
Macrocytic anemia, Increased mean corpuscular hemoglobin concentration, Increased mean corpuscula... ORPHA:3202
Anophthalmia Plus Syndrome
Anophthalmia, Bilateral cleft palate, Cleft palate, Eyelid coloboma, Blepharophimosis, Iris coloboma ORPHA:1104
Bardet-Biedl Syndrome 16
Recurrent respiratory infections, Bronchiolitis, Respiratory distress OMIM:615993
Monilethrix
Brittle hair, Slow-growing hair, Abnormality of the nail, Abnormal eyelash morphology, Patchy alo... ORPHA:573
Diaphragmatic Defect-Limb Deficiency-Skull Defect Syndrome
Pulmonary hypoplasia ORPHA:2141
Lethal Congenital Contracture Syndrome 1
Neonatal death, Pulmonary hypoplasia OMIM:253310
Microphthalmia, Isolated 6
Microcornea, Microphthalmia, Retinal fold OMIM:613517
Nasopalpebral Lipoma-Coloboma Syndrome
Microphthalmia, Bilateral microphthalmos, Multiple lipomas, Telecanthus, Abnormal eyelash morphol... ORPHA:2399
Chromosome 6Q24-Q25 Deletion Syndrome
Short palpebral fissure, Medial flaring of the eyebrow, Hooded eyelid, Dysplastic pulmonary valve... OMIM:612863
Transketolase Deficiency
Hepatomegaly, Seborrheic dermatitis, Patent foramen ovale, Abnormal heart morphology, Conjunctivi... ORPHA:488618
Trichodysplasia-Xeroderma Syndrome
Trichorrhexis nodosa, Coarse hair, Brittle hair, Sparse scalp hair, Sparse body hair, Sparse eyeb... ORPHA:3361
Keratoconus 6
Keratoconus OMIM:614623
Keratoconus 5
Keratoconus OMIM:614622
Keratoconus 8
Keratoconus OMIM:614628
Keratoconus 7
Keratoconus OMIM:614629
Laryngotracheoesophageal Cleft
Recurrent respiratory infections, Cyanosis, Neonatal respiratory distress, Dyspnea ORPHA:2004
Morquio Syndrome C
Corneal opacity OMIM:252300
Cortical Dysplasia, Complex, With Other Brain Malformations 9
Pulmonary hypoplasia OMIM:618174
Axenfeld-Rieger Syndrome, Type 3
Hypoplasia of the iris, Posterior embryotoxon, Ectopia pupillae, Atrial septal defect, Posterior ... OMIM:602482
Fuchs Heterochromic Iridocyclitis
Anterior chamber inflammatory cells, Vitreous floaters, Chorioretinal scar, Iris atrophy, Optic d... ORPHA:263479
Dysequilibrium Syndrome
Cataract ORPHA:1766
Microphthalmia/Coloboma 3
Cataract, Microphthalmia, Iris coloboma OMIM:610092
Inflammatory Bowel Disease 28, Autosomal Recessive
Perianal abscess, Pyoderma, Crohn's disease, Folliculitis, Enterocolitis, Hematochezia, Colitis OMIM:613148
Rere-Related Neurodevelopmental Syndrome
Optic atrophy, Microphthalmia, Astigmatism, Broad eyebrow, Peters anomaly, Gastroesophageal reflu... ORPHA:494344
Cardiomyopathy, Familial Hypertrophic, 21
Mitral valve prolapse, Myofiber disarray, Hypertrophic cardiomyopathy, Left ventricular hypertrophy OMIM:614676
Encephalocraniocutaneous Lipomatosis
Microphthalmia, Lipoma, Subcutaneous lipoma, Hypoplasia of the iris, Cryptorchidism, Sclerocornea... OMIM:613001
Craniofacial Abnormalities, Cataracts, Congenital Heart Disease, Sacral Neural Tube Defects, And Growth And Developmental Retardation
Cataract, Atrial septal defect, Ventricular septal defect, Low anterior hairline OMIM:608227
Juvenile Sialidosis Type 2
Optic atrophy, Hepatomegaly, Inguinal hernia, Generalized hypertrichosis, Corneal opacity, Viscer... ORPHA:93399
Imperforate Oropharynx-Costovertebral Anomalies Syndrome
Respiratory distress, Dyspnea, Downslanted palpebral fissures, Epicanthus, Respiratory failure, R... ORPHA:2759
Cat-Eye Syndrome
Microphthalmia, Anal atresia, Downslanted palpebral fissures, Chorioretinal coloboma, Iris coloboma ORPHA:195
Harlequin Ichthyosis
Cataract, Ectropion, Erythroderma, Sudden cardiac death ORPHA:457
Epidermolysis Bullosa Acquisita
Abdominal pain, Nail dystrophy, Inflammation of the large intestine, Abnormal hair morphology ORPHA:46487
Atelosteogenesis, Type Ii
Respiratory insufficiency, Stillbirth, Pulmonary hypoplasia, Death in infancy OMIM:256050
Short Stature-Valvular Heart Disease-Characteristic Facies Syndrome
Pulmonic stenosis, Abnormal heart valve morphology, Ptosis, Mitral valve prolapse ORPHA:2868
Arterial Tortuosity Syndrome
Congenital diaphragmatic hernia, Ischemic stroke, Short palpebral fissure, Astigmatism, Aortic re... OMIM:208050
Heart Defects-Limb Shortening Syndrome
Abnormal mitral valve morphology, Atrial septal defect, Ventricular septal defect, Abnormal tricu... ORPHA:1354
Corneal Dystrophy, Groenouw Type I
Cataract, Nodular corneal dystrophy, Granular corneal dystrophy, Punctate corneal dystrophy OMIM:121900
Mandibulofacial Dysostosis With Macroblepharon And Macrostomia
Ectropion, Recurrent otitis media, Corneal opacity, Synophrys, Long palpebral fissure, Downslante... OMIM:602562
Bartsocas-Papas Syndrome 2
Popliteal pterygium, Axillary pterygium, Microphthalmia, Bilateral cleft palate, Corneal opacity,... OMIM:619339
Cockayne Syndrome Type 2
Scarring, Hepatomegaly, Anophthalmia, Enamel hypoplasia, Developmental cataract, Flexion contract... ORPHA:90322
Retinal Arterial Macroaneurysm With Supravalvular Pulmonic Stenosis
Pulmonic stenosis OMIM:614224
Birdshot Chorioretinopathy
Abnormal chorioretinal morphology, Retinal thinning, Choroidal neovascularization, Inflammatory a... ORPHA:179
Gaucher Disease Type 2
Abnormal pattern of respiration, Recurrent respiratory infections, Respiratory distress ORPHA:77260
Baraitser-Winter Syndrome 1
Microphthalmia, Highly arched eyebrow, Low posterior hairline, Aortic valve stenosis, Ptosis, Lon... OMIM:243310
Congenital Heart Defects, Multiple Types, 5
Aortic valve stenosis, Tetralogy of Fallot, Bicuspid aortic valve, Atrial septal defect, Ventricu... OMIM:617912
Bronchiolitis Obliterans
Pneumonia, Dyspnea, Hypoxemia, Respiratory tract infection, Bronchiectasis, Bronchiolitis obliterans ORPHA:1303
Scheie Syndrome
Aortic regurgitation, Corneal opacity, Aortic valve stenosis, Mitral stenosis, Retinal degeneration OMIM:607016
Macular Corneal Dystrophy
Recurrent corneal erosions, Decreased corneal thickness, Punctate opacification of the cornea, Hy... ORPHA:98969
Inflammatory Bowel Disease 3
Ulcerative colitis OMIM:604519
Inflammatory Bowel Disease 21
Ulcerative colitis OMIM:612354
Microphthalmia With Linear Skin Defects Syndrome
Congenital diaphragmatic hernia, Microphthalmia, Corneal opacity, Abnormal rectum morphology, Mit... ORPHA:2556
X-Linked Corneal Dermoid
Corneal opacity, Abnormal pupil morphology ORPHA:1661
Microphthalmia, Syndromic 8
Short palpebral fissure, Microphthalmia, Microcornea, Cleft palate, Cryptorchidism, Blepharophimosis OMIM:601349
Mucolipidosis Iv
Optic atrophy, Corneal opacity, Achlorhydria, Opacification of the corneal stroma, Retinal degene... OMIM:252650
Keratoconus Posticus Circumscriptus
Keratoconus, Cleft palate, Central posterior corneal opacity OMIM:244600
Autosomal Dominant Keratitis
Corneal neovascularization, Bilateral microphthalmos, Aniridia, Limbal stem cell deficiency, Micr... ORPHA:2334
Palmoplantar Keratoderma-Esophageal Carcinoma Syndrome
Esophageal neoplasm, Gastrointestinal hemorrhage, Abnormal esophagus physiology, Gastroesophageal... ORPHA:2198
Cryptogenic Organizing Pneumonia
Pneumothorax, Respiratory distress, Dyspnea, Hypoxemia, Cyanosis ORPHA:1302
Genetic Hyperferritinemia Without Iron Overload
Cataract, Fragile nails ORPHA:254704
Weill-Marchesani Syndrome 3
Microspherophakia, Pulmonic stenosis, Aortic valve stenosis, Ectopia lentis, Shallow anterior cha... OMIM:614819
Anterior Segment Dysgenesis 8
Optic nerve dysplasia, Iris transillumination defect, Microphakia, Iridodonesis, Corneal stromal ... OMIM:617319
Alagille Syndrome
Hepatomegaly, Keratoconus, Corneal dystrophy, Hypertension, Cryptorchidism, Downslanted palpebral... ORPHA:52
Meconium Aspiration Syndrome
Pneumothorax, Atelectasis, Respiratory distress, Neonatal asphyxia, Aspiration pneumonia, Hypoxemia ORPHA:70588
Leopard Syndrome 2
Downslanted palpebral fissures, Epicanthus, Hypertrophic cardiomyopathy, Curly hair OMIM:611554
Optic Atrophy-Intellectual Disability Syndrome
Optic atrophy, Optic disc hypoplasia, Optic nerve hypoplasia, Keratoconus, Epicanthus, Upslanted ... ORPHA:401777
Neutropenia, Severe Congenital, 9, Autosomal Dominant
Cataract, Splenomegaly OMIM:619813
Interstitial Lung Disease 2
Exertional dyspnea, Dyspnea, Elevated bronchoalveolar lavage fluid neutrophil proportion, Usual i... OMIM:178500
Frontofacionasal Dysplasia
Aplasia/Hypoplasia of the eyebrow, Microphthalmia, Upper eyelid coloboma, Telecanthus, Absent inn... ORPHA:1791
Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome
Optic atrophy, Bilateral ptosis, Corneal neovascularization, Hepatomegaly, Pigmentary retinopathy... ORPHA:404454
Sjogren-Larsson Syndrome
Opacification of the corneal epithelium, Macular dots, Retinal thinning, Astigmatism, Abnormal ha... OMIM:270200
Trichothiodystrophy
Ectropion, Ridged nail, Cardiomyopathy, Aplasia/Hypoplasia of the nails, Umbilical hernia, Concav... ORPHA:33364
Cataract 42
Cataract, Developmental cataract OMIM:115900
Xfe Progeroid Syndrome
Optic atrophy, Hypertension, Corneal scarring, Enamel hypoplasia, Absence of subcutaneous fat, At... OMIM:610965
Clouston Syndrome
Nail dysplasia, Nail dystrophy, Brittle hair, Absent pubic hair, Slow-growing hair, Small nail, A... OMIM:129500
Sandestig-Stefanova Syndrome
Perimembranous ventricular septal defect, Muscular ventricular septal defect, Microphthalmia, Hig... OMIM:618804
Cardiofaciocutaneous Syndrome 3
Hypertrophic cardiomyopathy, Curly hair, Pulmonic stenosis, Atrial septal defect, Ventricular sep... OMIM:615279
Noonan Syndrome 14
High, narrow palate, Aortic regurgitation, Hypertrophic cardiomyopathy, Low posterior hairline, P... OMIM:619745
Sympathetic Ophthalmia
Retinal detachment, Vitreous floaters, Posterior uveitis, Depigmented fundus, Retinal hemorrhage,... ORPHA:79098
Xeroderma Pigmentosum, Complementation Group G
Cataract, Microphthalmia OMIM:278780
Autoinflammation With Pulmonary And Cutaneous Vasculitis
Purpura, Petechiae, Interstitial pneumonitis, Vasculitis in the skin, Recurrent upper respiratory... OMIM:620296
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome
Respiratory failure, Respiratory insufficiency due to muscle weakness, Recurrent aspiration pneum... ORPHA:2590
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency
Highly arched eyebrow, Pulmonic stenosis, Aortic valve stenosis, Intestinal malrotation, Abnormal... ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations
Highly arched eyebrow, Pulmonic stenosis, Aortic valve stenosis, Intestinal malrotation, Abnormal... ORPHA:353277
Diarrhea 8, Secretory Sodium, Congenital
Abdominal distention, Elevated fecal sodium, Secretory diarrhea, Inflammation of the large intestine OMIM:616868
Cardiomyopathy-Cataract-Hip Spine Disease Syndrome
Congestive heart failure, Abnormal heart valve morphology, Hypertension, Hypertrophic cardiomyopa... ORPHA:1345
Microphthalmia/Coloboma 7
Microphthalmia, Iris coloboma, Inferior chorioretinal coloboma OMIM:614497
3Q29 Microduplication Syndrome
Microphthalmia, Aniridia, Ectopic anus, High palate, Camptodactyly of toe, Downslanted palpebral ... ORPHA:251038
Triokinase And Fmn Cyclase Deficiency Syndrome
Microphthalmia, Hepatomegaly, Pancreatitis, Reduced systolic function, Cataract, Dilated cardiomy... OMIM:618805
Mulibrey Nanism
Congestive heart failure, Astigmatism, Hepatomegaly, Corneal dystrophy, Pericardial constriction,... OMIM:253250
Spastic Paraparesis And Deafness
Cataract OMIM:312910
Pierpont Syndrome
Abnormal subcutaneous fat tissue distribution, Microphthalmia, High anterior hairline, Telecanthu... ORPHA:487825
Moyamoya Disease With Early-Onset Achalasia
Thrombocytopenia, Abnormal platelet aggregation ORPHA:401945
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked
Astigmatism, Hepatomegaly, Telecanthus, Small nail, Optic nerve hypoplasia, Hirsutism, Corneal op... OMIM:301056
Inflammatory Bowel Disease (Crohn Disease) 30
Protein-losing enteropathy, Gastritis, Pancolitis, Abdominal pain, Chronic diarrhea, Abnormal int... OMIM:619079
Microphthalmia/Coloboma 9
Macular coloboma, Ocular anterior segment dysgenesis, Microphthalmia, Retinal detachment, Microco... OMIM:615145
Infantile Spasms-Broad Thumbs Syndrome
Vaginal hernia, Hypertrophic cardiomyopathy, Downslanted palpebral fissures, Cataract, Optic disc... ORPHA:3173
Immunodeficiency 11B With Atopic Dermatitis
Pneumonia, Chronic diarrhea, Increased circulating IgE level, Atopic dermatitis, Disseminated mol... OMIM:617638
Achondrogenesis Type 2
Pulmonary hypoplasia, Cardiorespiratory arrest ORPHA:93296
Immunodeficiency, Common Variable, 11
Crohn's disease, Increased circulating IgE level, Mucoid diarrhea, Failure to thrive, Decreased c... OMIM:615767
Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, And Hydranencephaly
Stillbirth, Narrow palpebral fissure, Neonatal death, Pulmonary hypoplasia OMIM:236500
Poikiloderma, Hereditary Fibrosing, With Tendon Contractures, Myopathy, And Pulmonary Fibrosis
Nail dysplasia, Hepatomegaly, Sparse eyelashes, Erysipelas, Sparse eyebrow, Joint contracture, Ca... OMIM:615704
Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To 10P11.21P12.31 Microdeletion
Short palpebral fissure, Astigmatism, Ventricular hypertrophy, Celiac disease, Synophrys, Pulmoni... ORPHA:284169
Avian Influenza
Pneumothorax, Respiratory distress, Miscarriage, Pleural effusion, Dyspnea, Hypoxemia, Conjunctiv... ORPHA:454836
Ceroid Lipofuscinosis, Neuronal, 3
Optic atrophy, Concentric hypertrophic cardiomyopathy, Macular degeneration, Cataract, Retinal de... OMIM:204200
Cryptorchidism-Arachnodactyly-Intellectual Disability Syndrome
Recurrent respiratory infections, Aplasia/Hypoplasia of the lungs ORPHA:1548
Waardenburg Syndrome Type 3
Atelectasis, Telecanthus, Downslanted palpebral fissures, Thick eyebrow, Acrocyanosis, Blepharoph... ORPHA:896
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Recessive
Keratoconus, Fragile nails, Sparse hair, Conjunctivitis, Erythroderma, Alopecia OMIM:242150
Neurodevelopmental Disorder With Cataracts, Poor Growth, And Dysmorphic Facies
Microphthalmia, Astigmatism, Retinal coloboma, Horizontal eyebrow, Abnormal heart morphology, Cle... OMIM:618571
Adult Acute Respiratory Distress Syndrome
Pulmonary edema, Abnormal blood gas level, Dyspnea, Hypoxemia, Pneumonia, Respiratory failure ORPHA:70578
Acrokeratoderma, Hereditary Papulotranslucent
Fine hair OMIM:101840
Congenital Cataract-Hypertrophic Cardiomyopathy-Mitochondrial Myopathy Syndrome
Cataract, Corneal dystrophy, Hypertrophic cardiomyopathy ORPHA:1369
Krabbe Disease, Atypical, Due To Saposin A Deficiency
Respiratory insufficiency, Respiratory failure, Central apnea, Death in infancy OMIM:611722
8Q21.11 Microdeletion Syndrome
Microphthalmia, Corneal opacity, High palate, Eczematoid dermatitis, Ptosis, Iris hypopigmentatio... ORPHA:284160
Intellectual Developmental Disorder, X-Linked, Syndromic, Bain Type
Short palpebral fissure, Gastroesophageal reflux, High palate, Almond-shaped palpebral fissure, C... OMIM:300986
Cardiomyopathy, Dilated, 1R
Congestive heart failure, Restrictive cardiomyopathy, Cardiomyocyte hypertrophy, Ventricular arrh... OMIM:613424
Congenital Pulmonary Lymphangiectasia
Cyanosis, Pleural effusion, Respiratory distress ORPHA:2414
Bardet-Biedl Syndrome 18
Cataract, Rod-cone dystrophy, Retinal dystrophy OMIM:615995
Cofs Syndrome
Optic atrophy, Microphthalmia, Camptodactyly of finger, Abnormality of retinal pigmentation, Cata... ORPHA:1466
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome
Ocular anterior segment dysgenesis, Microphthalmia, Retinal dysplasia, Coloboma, Developmental ca... ORPHA:324416
Dyssegmental Dysplasia, Silverman-Handmaker Type
Respiratory insufficiency, Neonatal death, Pulmonary hypoplasia, Pterygium OMIM:224410
Gombo Syndrome
Microphthalmia, Abnormal heart morphology OMIM:233270
Spinocerebellar Ataxia, Autosomal Recessive 24
Cataract OMIM:617133
Agnathia-Otocephaly Complex
Downslanted palpebral fissures, Pulmonary hypoplasia, Respiratory distress OMIM:202650
Congenital Heart Defects, Dysmorphic Facial Features, And Intellectual Developmental Disorder
Short palpebral fissure, Telecanthus, Gastroesophageal reflux, Highly arched eyebrow, Low posteri... OMIM:617360
Platelet Glycoprotein Iv Deficiency
Prolonged bleeding time, Thrombocytopenia, Giant platelets OMIM:608404
Refsum Disease
Nail dysplasia, Microphthalmia, Heart block, Cardiomyopathy, Retinopathy, Ptosis, Abnormality of ... ORPHA:773
Congenital Varicella Syndrome
Cataract, Atypical scarring of skin, Microphthalmia ORPHA:291
Spastic Paraparesis-Deafness Syndrome
Cataract ORPHA:2815
Pierpont Syndrome
Microphthalmia, High anterior hairline, Telecanthus, Microcornea, Unilateral narrow palpebral fis... OMIM:602342
Growth Hormone Insensitivity Syndrome With Immune Dysregulation 1, Autosomal Recessive
Lymphocytic interstitial pneumonia, Respiratory distress OMIM:245590
Fetal Akinesia Syndrome, X-Linked
Stillbirth, Narrow palpebral fissure, Blepharophimosis, Telecanthus OMIM:300073
X-Linked Centronuclear Myopathy
Pneumonia, Recurrent respiratory infections, Respiratory failure requiring assisted ventilation, ... ORPHA:596
Noonan Syndrome-Like Disorder With Loose Anagen Hair 2
Highly arched eyebrow, Optic nerve hypoplasia, Low posterior hairline, Pulmonic stenosis, Bifid u... OMIM:617506
1Q21.1 Microduplication Syndrome
Gastroesophageal reflux, Arthrogryposis multiplex congenita, Tetralogy of Fallot, Cataract, Crypt... ORPHA:250994
Autoimmune Interstitial Lung, Joint, And Kidney Disease
Abnormal pulmonary interstitial morphology, Dyspnea, Hemosiderin-laden macrophages in bronchoalve... OMIM:616414
Neurodevelopmental Disorder With Facial Dysmorphism, Absent Language, And Pseudo-Pelger-Huet Anomaly
Patent foramen ovale, Synophrys, Curly hair, Downslanted palpebral fissures, Sparse eyebrow, Epic... OMIM:620075
Corneal Dystrophy, Reis-Bucklers Type
Palpebral edema, Corneal erosion, Corneal dystrophy, Corneal opacity, Opacification of the cornea... OMIM:608470
Basel-Vanagaite-Smirin-Yosef Syndrome
Microphthalmia, Inguinal hernia, Gastroesophageal reflux, Microcornea, High palate, Furrowed tong... OMIM:616449
Upper Limb Defect-Eye And Ear Abnormalities Syndrome
Cataract, Cryptorchidism, Chorioretinal coloboma, Epicanthus ORPHA:2489
Microphthalmia-Ankyloblepharon-Intellectual Disability Syndrome
Microphthalmia, Ankyloblepharon, Anophthalmia ORPHA:85275
Brachydactyly, Coloboma, And Anterior Segment Dysgenesis
Ocular anterior segment dysgenesis, Microphthalmia, Coloboma, Peters anomaly, Iris coloboma OMIM:610023
Aortic Valve Disease 1
Ventricular septal defect, Aortic valve stenosis, Mitral stenosis, Tetralogy of Fallot, Aortic va... OMIM:109730
Stiff Skin Syndrome
Gastroesophageal reflux, Elbow flexion contracture, Camptodactyly, Cataract, Lipodystrophy, Knee ... OMIM:184900
Ectodermal Dysplasia-Blindness Syndrome
Microphthalmia, Corneal dystrophy, Microcornea, Abnormal fingernail morphology, Sclerocornea, Spa... ORPHA:1806
Idiopathic Uveal Effusion Syndrome
Microphthalmia, Abnormal anterior eye segment morphology, Exudative retinal detachment, Subretina... ORPHA:209956
Zellweger Syndrome
Abnormal chorioretinal morphology, Optic atrophy, Hepatomegaly, Corneal opacity, High palate, Cry... ORPHA:912
Macular Dystrophy, Corneal
Recurrent corneal erosions, Macular dystrophy, Punctate opacification of the cornea, Corneal dyst... OMIM:217800
Cardiac Valvular Dysplasia 1
Left atrial enlargement, Hypoplasia of right ventricle, Tricuspid valve prolapse, Muscular ventri... OMIM:212093
Microphthalmia, Isolated 2
Opacification of the corneal stroma, Microphthalmia OMIM:610093
Cystic Hamartoma Of Lung And Kidney
Respiratory insufficiency, Recurrent respiratory infections, Pulmonary fibrosis ORPHA:2111
Developmental And Epileptic Encephalopathy 35
Cataract, Cardiomyopathy OMIM:616647
Cat Eye Syndrome
Microphthalmia, Meckel diverticulum, Pulmonic stenosis, Intestinal malrotation, Umbilical hernia,... OMIM:115470
Microphthalmia, Syndromic 2
Microphthalmia, Aortic valve stenosis, Pulmonic stenosis, Bifid uvula, Mitral valve prolapse, Umb... OMIM:300166
Renal Tubular Dysgenesis
Respiratory insufficiency, Pulmonary hypoplasia OMIM:267430
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly
Respiratory failure, Pulmonary hypoplasia, Respiratory distress OMIM:617895
Wagner Vitreoretinopathy
Optic atrophy, Peripheral tractional retinal detachment, Chorioretinal atrophy, Vitreoretinopathy... OMIM:143200
Weill-Marchesani Syndrome
Pulmonic stenosis, Aortic valve stenosis, Ectopia lentis, Cataract, Ventricular septal defect, Mi... ORPHA:3449
Congenital Enterocyte Heparan Sulfate Deficiency
Abdominal distention, Protein-losing enteropathy, Abnormal circulating protein concentration, Dia... ORPHA:103910
Inflammatory Bowel Disease 13
Inflammation of the large intestine OMIM:612244
Inflammatory Bowel Disease (Crohn Disease) 19
Inflammation of the large intestine OMIM:612278
Sialidosis Type 2
Hepatomegaly, Inguinal hernia, Corneal opacity, Flexion contracture, Splenomegaly, Umbilical hern... ORPHA:87876
Neovascular Glaucoma
Abnormal anterior chamber morphology, Retinal detachment, Retinal vascular proliferation, Corneal... ORPHA:94058
Mucolipidosis Type Iii Alpha/Beta
Congestive heart failure, Recurrent otitis media, Aortic regurgitation, Corneal opacity, Umbilica... ORPHA:423461
Pulmonary Capillary Hemangiomatosis
Pulmonary edema, Pulmonary capillary hemangiomatosis, Exertional dyspnea, Abnormal pulmonary vein... ORPHA:199241
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome
Highly arched eyebrow, Glossoptosis, Abnormal heart morphology, Decreased response to growth horm... ORPHA:444077
Familial Exudative Vitreoretinopathy
Macular telangiectasia, Microphthalmia, Macular exudate, Retinal neovascularization, Chorioretina... ORPHA:891
Pulmonary Non-Tuberculous Mycobacterial Infection
Pneumothorax, Respiratory distress, Pleural effusion, Dyspnea, Bronchiectasis ORPHA:411703
Monilethrix
Nail dysplasia, Nail dystrophy, Brittle hair, Abnormality of hair texture, Sparse hair, Alopecia OMIM:158000
Slc35A1-Cdg
Respiratory distress, Hypoxemia, Pneumonia, Pulmonary hemorrhage, Subcutaneous hemorrhage ORPHA:238459
Retinal Dystrophy, Juvenile Cataracts, And Short Stature Syndrome
Bone spicule pigmentation of the retina, Retinal dystrophy, Upslanted palpebral fissure, Attenuat... OMIM:616108
Multiple Sulfatase Deficiency
Optic atrophy, Hepatomegaly, Corneal opacity, Abnormality of retinal pigmentation, Thick eyebrow,... ORPHA:585
Cutaneous Photosensitivity And Colitis, Lethal
Diarrhea, Colitis OMIM:219095
Intellectual Developmental Disorder, Autosomal Recessive 47
Mitral valve prolapse OMIM:616193
Hidrotic Ectodermal Dysplasia
Nail dystrophy, Slow-growing nails, Hypopigmentation of hair, Small nail, Absent pubic hair, Spar... ORPHA:189
Congenital Heart Defects, Multiple Types, 2
Myxomatous mitral valve degeneration, Aortic valve stenosis, Tetralogy of Fallot, Bicuspid aortic... OMIM:614980
Thanatophoric Dysplasia
Respiratory insufficiency, Downslanted palpebral fissures, Pulmonary hypoplasia ORPHA:2655
Tangier Disease
Nail dysplasia, Ectropion, Nail dystrophy, Hepatomegaly, Cicatricial ectropion, Splenomegaly, Lef... OMIM:205400
Warburg-Cinotti Syndrome
Corneal neovascularization, Ankle flexion contracture, Retinal dystrophy, Limbal stem cell defici... OMIM:618175
Cardiomyopathy, Familial Hypertrophic, 27
Congestive heart failure, Ventricular septal hypertrophy, Prolonged QT interval, Concentric hyper... OMIM:618052
Cranial Dysinnervation Disorder, Congenital, With Absent Corneal Reflex And Developmental Delay
Narrow palate, Highly arched eyebrow, Corneal opacity, Long palpebral fissure, Ptosis OMIM:620469
Adult-Onset Multiple Mitochondrial Dna Deletion Syndrome Due To Dguok Deficiency
Optic atrophy, Bilateral ptosis, Dysphagia, Cataract ORPHA:329314
Short Syndrome
Abnormal anterior chamber morphology, Telecanthus, Inguinal hernia, Abnormal dental enamel morpho... ORPHA:3163
Peroxisomal Fatty Acyl-Coa Reductase 1 Disorder
Cataract, Ptosis, Highly arched eyebrow OMIM:616154
Primary Familial Polycythemia
Polycythemia, Abnormal hemoglobin ORPHA:90042
Osteoporosis-Pseudoglioma Syndrome
Microphthalmia, Abnormal vitreous humor morphology, Retinal detachment, Exudative retinopathy, Co... ORPHA:2788
Cataract-Aberrant Oral Frenula-Growth Delay Syndrome
Inguinal hernia, Ptosis, Epicanthus, Umbilical hernia, Cataract ORPHA:1373
Gillessen-Kaesbach-Nishimura Syndrome
Abnormal lung lobation, Pulmonary hypoplasia, Telecanthus, Epicanthus OMIM:263210
Mantle Cell Lymphoma
Anorexia, Abnormality of the gastrointestinal tract, Weight loss ORPHA:52416
Atelis Syndrome 1
High palate, Eczematoid dermatitis, Bronchiectasis, Downslanted palpebral fissures, Cataract, Atr... OMIM:620184
Patent Ductus Arteriosus And Bicuspid Aortic Valve With Hand Anomalies
Short finger, Clinodactyly of the 5th finger, Short toe, Brachydactyly, Bicuspid aortic valve, Sh... OMIM:604381
Pili Torti
Brittle hair, Abnormality of the nail, Abnormality of hair texture, Abnormal eyebrow morphology, ... ORPHA:2889
Temtamy Syndrome
Microphthalmia, Chorioretinal coloboma, Telecanthus, Iris coloboma ORPHA:1777
Kerion Celsi
Recurrent cutaneous abscess formation, Recurrent skin infections, Inflammatory abnormality of the... ORPHA:499
Pulmonary Hemosiderosis
Recurrent intrapulmonary hemorrhage, Respiratory insufficiency, Pulmonary fibrosis OMIM:178550
Mucoepithelial Dysplasia, Hereditary
Nail dysplasia, Corneal neovascularization, Nail dystrophy, Pneumonia, Melena, Chronic monilial n... OMIM:158310
Intestinal Dysmotility Syndrome
Abdominal distention, Projectile vomiting, Diarrhea, High palate, Decreased intestinal transit ti... OMIM:620045
Cardiofaciocutaneous Syndrome 1
Optic nerve dysplasia, Gastroesophageal reflux, Slow-growing hair, Absent eyelashes, High palate,... OMIM:115150
Norrie Disease
Optic atrophy, Microphthalmia, Buphthalmos, Retinal dysplasia, Retinal detachment, Corneal opacit... OMIM:310600
Cardiomyopathy, Dilated, 1I
Cardiomegaly, Dilated cardiomyopathy OMIM:604765
Interstitial Lung Disease 1
Intralobular septal thickening, Nonspecific interstitial pneumonia, Dyspnea, Elevated bronchoalve... OMIM:619611
Metachondromatosis
Pulmonic stenosis, Downslanted palpebral fissures, Bowing of the long bones, Multiple enchondroma... OMIM:156250
Microphthalmia, Syndromic 3
Microphthalmia, Esophageal atresia, Anophthalmia, Optic nerve hypoplasia, Coloboma, Anterior pitu... OMIM:206900
Down Syndrome
Narrow palate, Atrioventricular canal defect, Aganglionic megacolon, Gastroesophageal reflux, Duo... ORPHA:870
Laryngeal Neuroendocrine Tumor
Elevated circulating carcinoembryonic antigen concentration, Anorexia, Weight loss, Oral-pharynge... ORPHA:100083
Arterial Tortuosity Syndrome
Myocarditis, Congestive heart failure, Short palpebral fissure, Inguinal hernia, Keratoglobus, Hi... ORPHA:3342
Gamma-Glutamylcysteine Synthetase Deficiency, Hemolytic Anemia Due To
Reduced erythrocyte gamma-glutamyl cysteine synthetase activity, Hemolytic anemia, Reticulocytosis OMIM:230450
Alport Syndrome
Recurrent corneal erosions, Abnormal corneal endothelium morphology, Posterior subcapsular catara... ORPHA:63
Idiopathic Pulmonary Hemosiderosis
Reticular pattern on pulmonary HRCT, Dyspnea, Respiratory failure, Pulmonary fibrosis, Nodular pa... ORPHA:99931
Patent Ductus Arteriosus-Bicuspid Aortic Valve-Hand Anomalies Syndrome
Bicuspid aortic valve, Short digit, Clinodactyly of the 5th finger, Short 5th metacarpal ORPHA:228190
Even-Plus Syndrome
Highly arched eyebrow, Patent foramen ovale, High palate, Anal atresia, Synophrys, Atopic dermati... OMIM:616854
Pericardial And Diaphragmatic Defect
Hypoxemia, Neonatal respiratory distress, Pulmonary sequestration, Pulmonary hypoplasia ORPHA:2847
Ménétrier Disease
Anorexia, Gastrointestinal hemorrhage, Gastroesophageal reflux, Stomach cancer, Giant hypertrophi... ORPHA:2494
Arrhythmogenic Right Ventricular Dysplasia, Familial, 11
Right ventricular cardiomyopathy, Woolly hair, Ventricular arrhythmia, Syncope, Palpitations, Sud... OMIM:610476
Edict Syndrome
Astigmatism, Anterior polar cataract, Keratoconus, Microcornea, Hypoplasia of the iris OMIM:614303
Multiple Acyl-Coa Dehydrogenase Deficiency
Jaundice, Telecanthus, Respiratory distress, Neonatal death, Pulmonary hypoplasia OMIM:231680
Bartsocas-Papas Syndrome
Popliteal pterygium, Hypoplastic toenails, Sparse or absent eyelashes, Corneal opacity, Cleft pal... ORPHA:1234
Oculocerebrocutaneous Syndrome
Microphthalmia, Anophthalmia, Orbital cyst, Cleft palate, Eyelid coloboma, Cryptorchidism, Alopecia OMIM:164180
Manitoba Oculotrichoanal Syndrome
Microphthalmia, Anal stenosis, Corneopalpebral synechiae, Anophthalmia, Omphalocele, Cryptophthal... OMIM:248450
Immunodeficiency 70
Decreased circulating total IgG, Decreased circulating antibody level, Achalasia, Furuncle, Recur... OMIM:618969
Thiel-Behnke Corneal Dystrophy
Recurrent corneal erosions, Astigmatism, Subepithelial corneal opacities, Central corneal dystrop... ORPHA:98960
Tricuspid Atresia
Cyanosis, Pulmonary artery atresia ORPHA:1209
Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull
Pulmonary hypoplasia OMIM:601163
Nephronophthisis 2
Respiratory insufficiency, Respiratory failure, Pulmonary hypoplasia OMIM:602088
Fetal Akinesia Deformation Sequence
Respiratory insufficiency, Pulmonary hypoplasia, Pterygium ORPHA:994
Griscelli Syndrome, Type 3
Large clumps of pigment irregularly distributed along hair shaft, White eyelashes, Silver-gray hair OMIM:609227
Alopecia Totalis
Alopecia of scalp, Onycholysis, Fragile nails, Trachyonychia, Nail pits, Inflammation of the larg... ORPHA:700
Temtamy Syndrome
Microphthalmia, Aortic regurgitation, Highly arched eyebrow, Lens luxation, Ectopia lentis, Downs... OMIM:218340
Hirschsprung Disease, Susceptibility To, 1
Abdominal distention, Aganglionic megacolon, Vomiting, Enterocolitis, Constipation, Abnormal ente... OMIM:142623
Chondrodysplasia Punctata 2, X-Linked Dominant
Microphthalmia, Erythroderma, Patchy alopecia, Sparse eyelashes, Sparse eyebrow, Downslanted palp... OMIM:302960
Mitral Valve Prolapse 3
Mitral valve prolapse OMIM:610840
Mitral Valve Prolapse 2
Mitral valve prolapse OMIM:607829
Chand Syndrome
Nail dysplasia, Curly hair OMIM:214350
Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction
Atelectasis, Respiratory distress, Elevated bronchoalveolar lavage fluid lymphocyte proportion, C... OMIM:610978
Cardiomyopathy, Dilated, 1Aa, With Or Without Left Ventricular Noncompaction
Endocardial fibrosis, Atrial fibrillation, Supraventricular tachycardia, Cardiac arrest, Death in... OMIM:612158
Coats Disease
Abnormal anterior chamber morphology, Retinal detachment, Aplasia/Hypoplasia of the iris, Abnorma... ORPHA:190
Nail-Patella Syndrome
Microphakia, Ridged nail, Keratoconus, Microcornea, Ptosis, Concave nail, Antecubital pterygium, ... OMIM:161200
Bleeding Disorder, Platelet-Type, 21
Impaired platelet aggregation, Increased mean platelet volume, Thrombocytopenia, Impaired ADP-ind... OMIM:617443
Galactosemia Iv
Cataract, Hepatomegaly OMIM:618881
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type)
Recurrent corneal erosions, Hepatomegaly, Corneal ulceration, Hepatocellular carcinoma, Corneal s... OMIM:256810
Lowry-Maclean Syndrome
Congenital diaphragmatic hernia, High, narrow palate, Atrioventricular canal defect, Developmenta... ORPHA:2409
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome
Cataract, Microphthalmia, Ventricular septal defect, Omphalocele ORPHA:93267
Tetrasomy 5P
Respiratory distress, Pulmonary hypoplasia, Epicanthus, Recurrent respiratory infections, Cyanosi... ORPHA:3309
Griscelli Syndrome, Type 1
Silver-gray hair, Melanin pigment aggregation in hair shafts, Hypopigmentation of the skin, Large... OMIM:214450
Bleeding Disorder, Platelet-Type, 25
Impaired ADP-induced platelet aggregation, Impaired collagen-induced platelet aggregation, Increa... OMIM:620486
Pseudomyxoma Peritonei
Intestinal obstruction, Abdominal pain, Constipation, Inflammation of the large intestine, Weight... ORPHA:26790
Cockayne Syndrome Type 1
Optic atrophy, Scarring, Hepatomegaly, Foot joint contracture, Anophthalmia, Hypertension, Enamel... ORPHA:90321
Macrothrombocytopenia And Granulocyte Inclusions With Or Without Nephritis Or Sensorineural Hearing Loss
Giant platelets, Impaired epinephrine-induced platelet aggregation, Impaired ADP-induced platelet... OMIM:155100
Holoprosencephaly
Congenital diaphragmatic hernia, Microphthalmia, Highly arched eyebrow, Retinopathy, Optic atroph... ORPHA:2162
Kapur-Toriello Syndrome
Joint contracture of the hand, Microphthalmia, Low posterior hairline, Retinal coloboma, Cryptorc... OMIM:244300
Tonne-Kalscheuer Syndrome
Congenital diaphragmatic hernia, Small nail, Decreased testicular size, Downslanted palpebral fis... OMIM:300978
Retinal Dystrophy And Iris Coloboma With Or Without Cataract
Iris coloboma, Retinal atrophy, Developmental cataract, Posterior synechiae of the anterior chamber OMIM:616722
Intellectual Disability-Seizures-Macrocephaly-Obesity Syndrome
High, narrow palate, Wolff-Parkinson-White syndrome, Astigmatism, Abnormality of the pineal gland... ORPHA:369950
Cardiac Valvular Dysplasia, X-Linked
Short chordae tendineae of the tricuspid valve, Ptosis, Mitral valve prolapse, Bicuspid aortic va... OMIM:314400
Hyper-Ige Syndrome 5, Autosomal Recessive, With Recurrent Infections
Recurrent otitis media, Increased circulating interleukin 6 concentration, Increased circulating ... OMIM:618944
Infantile Sialic Acid Storage Disease
Congestive heart failure, Death in childhood, Hepatomegaly, Hypopigmentation of the skin, High pa... OMIM:269920
Ficolin 3 Deficiency
Necrotizing enterocolitis OMIM:613860
5-Oxoprolinase Deficiency
Diarrhea, Abdominal pain, Enterocolitis, Vomiting OMIM:260005
Alpha-Mannosidosis
Narrow palate, Chronic otitis media, Hepatomegaly, Inguinal hernia, Arthritis, Corneal opacity, S... ORPHA:61
Distal Duplication 6P
Abnormal hair quantity, Abnormal eyelash morphology, Aplasia/Hypoplasia affecting the eye, Ptosis... ORPHA:1745
Dysplastic Cortical Hyperostosis, Kozlowski-Tsuruta Type
Aplasia/Hypoplasia of the lungs ORPHA:2204
Stickler Syndrome Type 1
Abnormal vitreous humor morphology, Retinal detachment, Cleft palate, Osteoarthritis, Mitral valv... ORPHA:90653
Spinocerebellar Degeneration And Corneal Dystrophy
Corneal stromal edema, Corneal dystrophy, Opacification of the corneal stroma OMIM:271310
Lethal Hemolytic Anemia-Genital Anomalies Syndrome
Respiratory insufficiency, Aplasia/Hypoplasia of the lungs ORPHA:1046
Lymphedema-Distichiasis Syndrome
Recurrent corneal erosions, Ectropion, Microphthalmia, Yellow nails, Corneal ulceration, Distichi... OMIM:153400
Hurler Syndrome
Bilateral ptosis, Hepatomegaly, Recurrent otitis media, Aortic regurgitation, Inguinal hernia, Hi... OMIM:607014
Respiratory Bronchiolitis-Interstitial Lung Disease Syndrome
Hypersensitivity pneumonitis, Emphysema, Honeycomb lung, Dyspnea, Hypoxemia, Respiratory tract in... ORPHA:79127
Persistent Hyperplastic Primary Vitreous
Microphthalmia, Hemorrhage of the eye, Microcornea, Corneal opacity, Persistent pupillary membran... ORPHA:91495
Congenital Fibrinogen Deficiency
Microphthalmia, Hemorrhagic ovarian cyst, Internal hemorrhage, Decreased testicular size, Volvulu... ORPHA:335
Chromosome 17Q12 Duplication Syndrome
Microphthalmia, Esophageal atresia, Cleft soft palate, Downslanted palpebral fissures, Atrial sep... OMIM:614526
Hypoalphalipoproteinemia, Primary, 2
Corneal arcus, Cataract OMIM:618463
Alpha-N-Acetylgalactosaminidase Deficiency
Cardiomegaly, Recurrent pneumonia, Cataract, Gastroesophageal reflux ORPHA:3137
Colobomatous Microphthalmia-Obesity-Hypogenitalism-Intellectual Disability Syndrome
Microphthalmia, Retinal coloboma, Cataract, Cryptorchidism, Rod-cone dystrophy ORPHA:363741
Congenital Disorder Of Glycosylation, Type Iq
Optic atrophy, Microphthalmia, Coloboma, Eczematoid dermatitis, Dysphagia, Cataract, Hypertrichosis OMIM:612379
Vitreoretinochoroidopathy
Microphthalmia, Retinal detachment, Microcornea, Abnormality of chorioretinal pigmentation, Retin... OMIM:193220
Familial Reactive Perforating Collagenosis
Maculopapular exanthema, Perifolliculitis, Inflammatory abnormality of the skin, Crusting erythem... ORPHA:79147
Pallister-Hall-Like Syndrome
Pulmonary hypoplasia, Death in infancy OMIM:241800
Chromosome 6Pter-P24 Deletion Syndrome
Short palpebral fissure, Ocular anterior segment dysgenesis, Frontal upsweep of hair, Peters anom... OMIM:612582
Multiple Pterygium Syndrome, X-Linked
Pulmonary hypoplasia, Multiple pterygia, Epicanthus OMIM:312150
Criss-Cross Heart
Transposition of the great arteries, Tricuspid stenosis, Pulmonic stenosis, Abnormal mitral valve... ORPHA:1461
Surfactant Metabolism Dysfunction, Pulmonary, 5
Exertional dyspnea, Respiratory insufficiency, Intraalveolar phospholipid accumulation, Dyspnea, ... OMIM:614370
Gapo Syndrome
Optic atrophy, Breast hypoplasia, Nail dysplasia, High, narrow palate, Hepatomegaly, Keratoconus,... OMIM:230740
Rothmund-Thomson Syndrome, Type 1
Nail dystrophy, Recurrent otitis media, Thin nail, Juvenile cataract, Absent eyelashes, Absent ey... OMIM:618625
Warburg Micro Syndrome 3
Optic atrophy, Narrow palate, Microphthalmia, Microcornea, Decreased testicular size, Shallow ant... OMIM:614222
Keratitis, Hereditary
Opacification of the corneal stroma, Keratitis OMIM:148190
Congenital Muscular Dystrophy With Cerebellar Involvement
Optic atrophy, Microphthalmia, Retinal detachment, Optic nerve hypoplasia, Abnormality iris morph... ORPHA:370959
Pulmonary Alveolar Microlithiasis
Pneumothorax, Pleural thickening, Exertional dyspnea, Respiratory insufficiency, Bronchitis, Dysp... ORPHA:60025
Secondary Short Bowel Syndrome
Malnutrition, Abdominal distention, Steatorrhea, Aganglionic megacolon, Diarrhea, Small intestina... ORPHA:95427
Myopathy, Myofibrillar, Fatal Infantile Hypertonic, Alpha-B Crystallin-Related
Respiratory insufficiency, Respiratory failure, Apnea, Death in infancy OMIM:613869
Early-Onset Epileptic Encephalopathy-Cortical Blindness-Intellectual Disability-Facial Dysmorphism Syndrome
Telecanthus, Anophthalmia, Synophrys, Long eyelashes, Thick eyebrow, Low anterior hairline ORPHA:411986
Mucopolysaccharidosis Type 1
Optic atrophy, Congestive heart failure, Chronic otitis media, Abnormal aortic valve morphology, ... ORPHA:579
Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome
Upslanted palpebral fissure, Pulmonary hypoplasia ORPHA:3035
Immunodeficiency 57 With Autoinflammation
Perianal abscess, Gastritis, Diarrhea, Skin rash, Decreased circulating antibody level, Partial a... OMIM:618108
Megabladder, Congenital
Left ventricular noncompaction cardiomyopathy, Bicuspid aortic valve, Atrial septal defect, Ventr... OMIM:618719
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome
Microphthalmia, Retinal coloboma, Cataract, Cryptorchidism, Rod-cone dystrophy OMIM:601794
Encephalocraniocutaneous Lipomatosis
Tricuspid valve prolapse, Alopecia, Abnormal eyelid morphology, Abnormal nasolacrimal system morp... ORPHA:2396
Koolen-De Vries Syndrome
Narrow palate, Abnormality of hair texture, High palate, Cataract, Cryptorchidism, Pulmonic steno... OMIM:610443
Focal Myositis
Myositis, Elevated circulating creatine kinase concentration, Weight loss ORPHA:48918
Cataract-Intellectual Disability-Anal Atresia-Urinary Defects Syndrome
Aplasia/Hypoplasia of the lens, Anal atresia, Tetralogy of Fallot, Cataract, Cryptorchidism ORPHA:1381
Myasthenic Syndrome, Congenital, 6, Presynaptic
Sudden episodic apnea, Respiratory distress, Apneic episodes precipitated by illness, fatigue, st... OMIM:254210
Hurler Syndrome
Hepatomegaly, Angina pectoris, Abnormal heart valve morphology, Hypertension, Cardiomyopathy, Cor... ORPHA:93473
Weill-Marchesani Syndrome 4
Iridodonesis, Phakodonesis, Ectopia lentis, Shallow anterior chamber, Posterior synechiae of the ... OMIM:613195
Retinal Degeneration With Nanophthalmos, Cystic Macular Degeneration, And Angle Closure Glaucoma
Cystoid macular degeneration, Microphthalmia, Shallow anterior chamber, Retinal degeneration, Mac... OMIM:267760
Congenital Tricuspid Valve Dysplasia
Tricuspid valve prolapse, Abnormal tricuspid valve annulus morphology, Patent foramen ovale, Righ... ORPHA:555874
Idiopathic Bronchiectasis
Emphysema, Recurrent lower respiratory tract infections, Acute infectious pneumonia, Dyspnea, Res... ORPHA:60033
Trichothiodystrophy 3, Photosensitive
Ectropion, Microphthalmia, Trichorrhexis nodosa, Brittle hair, Meckel diverticulum, Tiger tail ba... OMIM:616395
Inflammatory Bowel Disease 25, Autosomal Recessive
Perianal abscess, Rectovaginal fistula, Pancolitis, Folliculitis, Enterocolitis, Enterocutaneous ... OMIM:612567
Oculodentodigital Dysplasia
Short palpebral fissure, Microphthalmia, Joint contracture of the 5th finger, Slow-growing hair, ... OMIM:164200
Chitayat Syndrome
Abnormal pulmonary interstitial morphology, Recurrent respiratory infections, Respiratory distress OMIM:617180
Chronic Beryllium Disease
Hypersensitivity pneumonitis, Respiratory insufficiency, Dyspnea, Pulmonary fibrosis, Lymphocytic... ORPHA:133
Tietz Syndrome
Abnormal anterior chamber morphology, Hypopigmentation of hair, Hypopigmentation of the skin, Abn... ORPHA:42665
Autoimmune Disease, Multisystem, Infantile-Onset, 2
Minimal change glomerulonephritis, Decreased specific pneumococcal antibody level, Colitis OMIM:617006
Odontochondrodysplasia 1
Respiratory distress, Recurrent respiratory infections, Pulmonary hypoplasia, Death in infancy OMIM:184260
Spondyloepiphyseal Dysplasia-Brachydactyly-Speech Disorder Syndrome
Nail dysplasia, Multiple rows of eyelashes, Curly eyelashes, Facial hirsutism, Low posterior hair... ORPHA:163654
Myopathy, Mitochondrial Progressive, With Congenital Cataract And Developmental Delay
Cataract, Developmental cataract OMIM:613076
Angioma Serpiginosum, X-Linked
Nail dystrophy, Fine hair, Sparse hair OMIM:300652
Immunodeficiency 54
Respiratory insufficiency, Respiratory failure, Recurrent respiratory infections OMIM:609981
Central Cloudy Dystrophy Of Francois
Corneal dystrophy, Central corneal dystrophy OMIM:217600
Schnyder Corneal Dystrophy
Corneal dystrophy, Crystalline corneal dystrophy OMIM:121800
Cyanosis, Transient Neonatal
Anemia, Methemoglobinemia, Reticulocytosis OMIM:613977
Multiple Benign Circumferential Skin Creases On Limbs
Congestive heart failure, Microphthalmia, Inguinal hernia, Microcornea, Retinopathy, Cleft palate... ORPHA:2505
Retinitis Pigmentosa 40
Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina, Rod-cone dystrophy... OMIM:613801
Autoimmune Pulmonary Alveolar Proteinosis
Crazy paving pattern, Intraalveolar phospholipid accumulation, Dyspnea, Hypoxemia, Cyanosis ORPHA:747
Morm Syndrome
Cataract, Retinal atrophy, Retinal dystrophy ORPHA:75858
Perching Syndrome
Cyanosis, Respiratory distress OMIM:617055
Microcornea-Posterior Megalolenticonus-Persistent Fetal Vasculature-Coloboma Syndrome
Posterior lenticonus, Microphthalmia, Retinal dystrophy, Microcornea, Remnants of the hyaloid vas... ORPHA:231736
Incontinentia Pigmenti
Microphthalmia, Skin rash, Corneal opacity, Cerebral ischemia, Broad nail, Umbilical hernia, Abno... ORPHA:464
Koolen-De Vries Syndrome
Narrow palate, High, narrow palate, Hypopigmentation of hair, Abnormal dental enamel morphology, ... ORPHA:96169
Microcephaly-Brachydactyly-Kyphoscoliosis Syndrome
Cataract, Downslanted palpebral fissures, High, narrow palate ORPHA:3433
Methylmalonate Semialdehyde Dehydrogenase Deficiency
Microphthalmia, High palate, Downslanted palpebral fissures, Epicanthus, Sparse hair, Cataract, R... OMIM:614105
Pili Torti-Onychodysplasia Syndrome
Nail dystrophy, Brittle hair, Absent eyelashes, Absent eyebrow, Eczematoid dermatitis, Conjunctiv... ORPHA:2890
Visceral Myopathy 2
Intestinal obstruction, Rectal prolapse, Gastroparesis, Gastroesophageal reflux, Intestinal pseud... OMIM:619350
Retinopathy Of Prematurity
Vitreous hemorrhage, Cataract, Tractional retinal detachment, Abnormal retinal vascular morpholog... ORPHA:90050
Rodrigues Blindness
Microphthalmia, Microcornea, Sclerocornea, Sparse hair, Fine hair OMIM:268320
Axenfeld-Rieger Syndrome, Type 2
Anal stenosis, Telecanthus, Inguinal hernia, Microcornea, Abnormal heart morphology, Umbilical he... OMIM:601499
Hyperbilirubinemia, Shunt, Primary
Erythroid hyperplasia, Anemia of inadequate production, Splenomegaly, Reticulocytosis OMIM:237800
Congenital Heart Defects, Multiple Types, 4
Atrioventricular canal defect, Aortic valve stenosis, Tetralogy of Fallot, Ventricular septal def... OMIM:615779
Developmental And Epileptic Encephalopathy 71
Respiratory insufficiency, Respiratory failure, Cheyne-Stokes respiration OMIM:618328
Hypotrichosis 7
Brittle hair, Abnormality of the nail, Abnormal sweat gland morphology, Sparse scalp hair, Woolly... OMIM:604379
Lymphedema-Hypoparathyroidism Syndrome
Hypoparathyroidism, Telecanthus, Ptosis, Mitral valve prolapse, Cataract, Hypertrichosis OMIM:247410
Xp22.3 Microdeletion Syndrome
Aplasia/Hypoplasia affecting the eye, Opacification of the corneal stroma, Polycystic ovaries, Ec... ORPHA:1643
Reducing Body Myopathy, X-Linked 1A, Severe, With Infantile Or Early Childhood Onset
Respiratory failure, Respiratory insufficiency due to muscle weakness, Death in adolescence OMIM:300717
Warburg Micro Syndrome 4
Optic atrophy, Microphthalmia, Microcornea, Hirsutism, Decreased testicular size, Ptosis, Develop... OMIM:615663
Neuralgic Amyotrophy
Respiratory insufficiency, Short palpebral fissure, Epicanthus, Acrocyanosis ORPHA:2901
Congenital Tracheomalacia
Pneumothorax, Cyanosis, Emphysema, Intercostal retractions, Respiratory insufficiency, Dyspnea, B... ORPHA:95430
Autoinflammation With Infantile Enterocolitis
Elevated circulating C-reactive protein concentration, Episodic vomiting, Skin rash, Failure to t... OMIM:616050
Corneal Dystrophy And Perceptive Deafness
Opacification of the corneal stroma, Corneal dystrophy OMIM:217400
Nasopalpebral Lipoma-Coloboma Syndrome
Microphthalmia, Upper eyelid coloboma, Telecanthus, Coloboma, Conjunctival hyperemia, Absent lacr... OMIM:167730
Congenital Arthrogryposis With Anterior Horn Cell Disease
Ptosis, Downslanted palpebral fissures, Respiratory insufficiency due to muscle weakness, Neonata... OMIM:611890
Brachyolmia Type 1, Hobaek Type
Opacification of the corneal stroma, Corneal opacity OMIM:271530
Cone-Rod Dystrophy 16
Bone spicule pigmentation of the retina, Cone/cone-rod dystrophy, Attenuation of retinal blood ve... OMIM:614500
Nathalie Syndrome
Cataract, Abnormal EKG OMIM:255990
Atrial Septal Defect 2
Atrioventricular canal defect, Dextrocardia, Pulmonic stenosis, Atrial septal defect, Ventricular... OMIM:607941
Cardiomyopathy, Dilated, 1C, With Or Without Left Ventricular Noncompaction
Congestive heart failure, Endocardial fibrosis, Left bundle branch block, Ventricular arrhythmia,... OMIM:601493
Hypohidrotic Ectodermal Dysplasia With Immunodeficiency
Nail dystrophy, Recurrent otitis media, Abnormal immunoglobulin level, Increased circulating IgG ... ORPHA:98813
Adams-Oliver Syndrome 2
Optic atrophy, Microphthalmia, Small nail, Developmental cataract, Low anterior hairline, Narrow ... OMIM:614219
Multiple Pterygium Syndrome, Lethal Type
Pulmonary hypoplasia, Multiple pterygia, Epicanthus OMIM:253290
Exudative Vitreoretinopathy 2, X-Linked
Microphthalmia, Retinal detachment, Retinal fold, Intraretinal exudate, Shallow anterior chamber,... OMIM:305390
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 14
Cataract, Cardiomyopathy OMIM:615352
Fetal Minoxidil Syndrome
Ventricular septal defect, Generalized hirsutism, Umbilical hernia ORPHA:1918
Hawkinsinuria
Failure to thrive, Fine hair, Sparse hair, Abnormal circulating tyrosine concentration ORPHA:2118
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase
Polycythemia, Methemoglobinemia OMIM:250800
Retinal Dystrophy, Iris Coloboma, And Comedogenic Acne Syndrome
Retinal dystrophy, Microcornea, Comedonal acne, Absent foveal reflex, Peripheral retinal atrophy,... OMIM:615147
Myasthenic Syndrome, Congenital, 4A, Slow-Channel
Sudden episodic apnea, Respiratory distress, Apneic episodes precipitated by illness, fatigue, st... OMIM:605809
Lethal Congenital Contracture Syndrome Type 1
Pulmonary hypoplasia ORPHA:1486
19Q13.11 Microdeletion Syndrome
Nail dysplasia, Sparse or absent eyelashes, Microcornea, Cryptorchidism, Sparse lateral eyebrow, ... ORPHA:217346
Erythrocytosis, Familial, 2
Increased circulating hemoglobin concentration, Increased red blood cell mass, Increased hematocrit OMIM:263400
Cardiomyopathy, Dilated, 1Y
Left ventricular noncompaction cardiomyopathy, Dilated cardiomyopathy, Ebstein anomaly of the tri... OMIM:611878
Peroxisome Biogenesis Disorder 2A (Zellweger)
Optic nerve dysplasia, Palpebral edema, Hepatomegaly, Hypoplasia of the thymus, Camptodactyly, Ab... OMIM:214110
Catel-Manzke Syndrome
Chronic otitis media, Highly arched eyebrow, Glossoptosis, Camptodactyly of finger, Cleft palate,... ORPHA:1388
1Q41Q42 Microdeletion Syndrome
Upslanted palpebral fissure, Pulmonary hypoplasia ORPHA:250999
Chime Syndrome
Pulmonary valve atresia, Transposition of the great arteries, Corneal opacity, Retinal coloboma, ... ORPHA:3474
Myopathy, Distal, 7, Adult-Onset, X-Linked
Cataract, Cardiomyopathy, Myofiber disarray OMIM:301075
Keratosis Follicularis Spinulosa Decalvans, Autosomal Dominant
Nail dysplasia, Nail dystrophy, Scarring alopecia of scalp, Folliculitis, Sparse eyelashes, Bleph... OMIM:612843
Mucopolysaccharidosis, Type Vii
Hepatomegaly, Recurrent otitis media, Abnormal heart valve morphology, Hirsutism, Cardiomyopathy,... OMIM:253220
Hirschsprung Disease
Intestinal obstruction, Aganglionic megacolon, Intestinal polyposis, Diarrhea, Abdominal pain, Fu... ORPHA:388
Zika Virus Disease
Optic disc hypoplasia, Myelitis, Arthritis, Chorioretinal atrophy, Skin rash, Abnormal optic disc... ORPHA:448237
Trichohepatoenteric Syndrome 1
Trichorrhexis nodosa, Hepatomegaly, Aortic regurgitation, Brittle hair, Woolly hair, Curly hair, ... OMIM:222470
Ataxia-Pancytopenia Syndrome
Decreased circulating antibody level, Abnormal platelet function ORPHA:2585
Galactosemia Ii
Cataract OMIM:230200
Alpha-1-Antitrypsin Deficiency
Bronchiectasis, Chronic bronchitis, Dyspnea, Panacinar emphysema OMIM:613490
Intellectual Developmental Disorder, Autosomal Dominant 34
Bilateral ptosis, Curly hair, Synophrys, Epicanthus, Upslanted palpebral fissure, Coarse hair OMIM:616351
Pulmonary Venoocclusive Disease 2, Autosomal Recessive
Pulmonary venous occlusion, Pulmonary capillary hemangiomatosis, Dyspnea OMIM:234810
Teebi Hypertelorism Syndrome 1
Bilateral ptosis, Highly arched eyebrow, Downslanted palpebral fissures, Pulmonary hypoplasia, Up... OMIM:145420
Niemann-Pick Disease, Type C2
Death in childhood, Jaundice, Respiratory insufficiency, Death in infancy, Prolonged neonatal jau... OMIM:607625
Oculogastrointestinal Neurodevelopmental Syndrome
Bilateral microphthalmos, Coloboma, Hirsutism, Unilateral microphthalmos, Anal atresia, Unilatera... OMIM:619318
Pontocerebellar Hypoplasia, Type 1C
Respiratory insufficiency, Respiratory failure, Death in childhood OMIM:616081
Hereditary Mucoepithelial Dysplasia
Anorectal anomaly, Corneal dystrophy, Furrowed tongue, Tracheoesophageal fistula, Sparse hair, Ca... ORPHA:1839
Ebstein Anomaly
Atrial septal defect, Ebstein anomaly of the tricuspid valve OMIM:224700
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 6
Paradoxical respiration, Recurrent acute respiratory tract infection, Respiratory distress OMIM:620011
Left Ventricular Noncompaction 1
Congestive heart failure, Palpitations, Atrial fibrillation, Noncompaction cardiomyopathy, Ventri... OMIM:604169
Cardiomyopathy, Dilated, 1Ii
Ventricular tachycardia, Cataract, Increased left ventricular end-diastolic volume, Dilated cardi... OMIM:615184
Hypoplastic Left Heart Syndrome 1
Aortic valve stenosis, Hypoplastic left heart OMIM:241550
Alg2-Cdg
Hepatomegaly, Downslanted palpebral fissures, Epicanthus, Cataract, Iris coloboma ORPHA:79326
Hair Defect With Photosensitivity And Mental Retardation
Brittle hair, Sparse eyelashes, Sparse eyebrow, Sparse hair, Coarse hair OMIM:234030
Congenital Myopathy 8
Internally nucleated skeletal muscle fibers, Congestive heart failure, Abnormal Z disk morphology... OMIM:618654
Mitochondrial Dna Depletion Syndrome 4B (Mngie Type)
Abdominal distention, Intestinal pseudo-obstruction, Cachexia, Abdominal pain, Constipation, Slen... OMIM:613662
Pyogenic Sterile Arthritis, Pyoderma Gangrenosum, And Acne
Elevated circulating C-reactive protein concentration, Arthritis, Sterile arthritis, Cystic acne,... OMIM:604416
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome
Microphthalmia, Flexion contracture of toe, Microcornea, Finger joint contracture, Cataract ORPHA:48431
Immunodeficiency 37
Decreased circulating antibody level, Infectious encephalitis, Colitis OMIM:616098
3-Methylglutaconic Aciduria Type 4
Cataract, Iris hypopigmentation, Cardiomyopathy ORPHA:67048
Moyamoya Angiopathy-Short Stature-Facial Dysmorphism-Hypergonadotropic Hypogonadism Syndrome
Premature graying of hair, Ischemic stroke, Decreased response to growth hormone stimulation test... ORPHA:280679
Angelman Syndrome
Optic atrophy, Astigmatism, Abnormality of the gastrointestinal tract, Gastroesophageal reflux, K... ORPHA:72
Mucopolysaccharidosis Type 3
Chronic otitis media, Corneal opacity, Abnormal mitral valve morphology, Splenomegaly, Dysphagia,... ORPHA:581
Pulmonic Stenosis, Atrial Septal Defect, And Unique Electrocardiographic Abnormalities
Pulmonic stenosis, Secundum atrial septal defect OMIM:178650
Iris Pigment Layer, Cleavage Of
Cataract, Peripheral retinal detachment OMIM:147610
Chromosome 17Q11.2 Duplication Syndrome, 1.4-Mb
Alopecia of scalp, Bilateral cleft palate, High palate, Unilateral microphthalmos, Ankyloglossia,... OMIM:618874
Marie Unna Hereditary Hypotrichosis
Sparse or absent eyelashes, Sparse scalp hair, Aplasia/Hypoplasia of the eyebrow, Coarse hair, Al... ORPHA:444
Gm1 Gangliosidosis
Optic atrophy, Congestive heart failure, Inguinal hernia, Gastroesophageal reflux, Hirsutism, Car... ORPHA:354
Distal Deletion 19P
Pulmonary valve atresia, Tricuspid valve prolapse, Ventricular septal defect, Thick eyebrow ORPHA:96129
Autosomal Recessive Spastic Paraplegia Type 69
Cataract ORPHA:401830
Ebstein Malformation Of The Tricuspid Valve
Abnormal endocardium morphology, Ebstein anomaly of the tricuspid valve, Imperforate tricuspid va... ORPHA:1880
Generalized Eruptive Keratoacanthoma
Ectropion, Dysphagia, Pruritus, Conjunctivitis, Abnormal cornea morphology, Keratoconjunctivitis ... ORPHA:411777
Ciliary Dyskinesia, Primary, 2
Respiratory distress, Nasal polyposis, Bronchiectasis, Recurrent respiratory infections, Absent i... OMIM:606763
Eosinophilic Gastroenteritis
Steatorrhea, Protein-losing enteropathy, Abnormality of the gastrointestinal tract, Elevated circ... ORPHA:2070
Malignant Atrophic Papulosis
Ischemic stroke, Gastrointestinal hemorrhage, Gastrointestinal infarctions, Arteritis, Intestinal... ORPHA:679
Benign Cephalic Histiocytosis
Skin rash, Inflammatory abnormality of the skin ORPHA:157997
Polyvalvular Heart Disease Syndrome
Abnormal heart valve morphology, Pulmonic stenosis, Ptosis, Aortic valve stenosis, Mitral valve p... ORPHA:228410
8P23.1 Duplication Syndrome
Pulmonic stenosis, Ventricular septal defect, Tetralogy of Fallot, Highly arched eyebrow ORPHA:251076
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency
Ocular anterior segment dysgenesis, Bilateral microphthalmos, Patent foramen ovale, Arthrogryposi... ORPHA:369891
Choanal Atresia
Recurrent respiratory infections, Cyanosis, Respiratory distress ORPHA:137914
Retinitis Pigmentosa 9
Bone spicule pigmentation of the retina, Cataract, Macular edema, Rod-cone dystrophy, Macular atr... OMIM:180104
Histiocytoid Cardiomyopathy
Microphthalmia, Corneal opacity, Congenital aphakia, Cardiomegaly, Optic atrophy, Cleft palate, A... ORPHA:137675
Atelis Syndrome 2
Short palpebral fissure, Microphthalmia, Gastroesophageal reflux, High palate, Supravalvar pulmon... OMIM:620185
Cerebrooculofacioskeletal Syndrome 1
Microphthalmia, Hirsutism, Elbow flexion contracture, Camptodactyly, Arthrogryposis multiplex con... OMIM:214150
Cardiomyopathy, Dilated, 1Gg
Congestive heart failure, Reduced left ventricular ejection fraction, Cardiogenic shock, Dilated ... OMIM:613642
Diaphanospondylodysostosis
Respiratory insufficiency, Pulmonary hypoplasia, Epicanthus, Respiratory distress OMIM:608022
Oculocerebral Hypopigmentation Syndrome, Cross Type
Ectropion, Hypopigmentation of hair, Inguinal hernia, Corneal opacity, Choroideremia, Aplasia/Hyp... ORPHA:2719
Microphthalmia/Coloboma 12
Microphthalmia, Corneal opacity, Remnants of the hyaloid vascular system, Optic nerve aplasia, Ch... OMIM:120200
Aniridia 1
Bilateral ptosis, Corneal neovascularization, Aniridia, Corneal erosion, Optic nerve hypoplasia, ... OMIM:106210
Crandall Syndrome
Brittle hair, Sparse body hair, Aplasia/Hypoplasia of the eyebrow, Fine hair, Pili torti, Alopecia ORPHA:202
Cap Polyposis
Abdominal distention, Colorectal polyposis, Diarrhea, Abdominal pain, Constipation, Hematochezia,... ORPHA:160148
Snijders Blok-Campeau Syndrome
Perimembranous ventricular septal defect, Astigmatism, Inguinal hernia, High palate, Pulmonic ste... OMIM:618205
Immunodeficiency 14B, Autosomal Recessive
Chronic diarrhea, Decreased circulating IgG level, Inflammation of the large intestine, Recurrent... OMIM:619281
Neurodevelopmental Disorder With Midbrain And Hindbrain Malformations
Astigmatism, Skin rash, High palate, Low posterior hairline, Long eyelashes, Ptosis, Downslanted ... OMIM:617523
Renal-Hepatic-Pancreatic Dysplasia 2
Abnormal lung lobation, Situs inversus totalis, Stillbirth, Truncus arteriosus, Hypertrophic card... OMIM:615415
Lethal Osteosclerotic Bone Dysplasia
Respiratory failure, Dyspnea, Respiratory distress ORPHA:1832
Neuraminidase Deficiency
Hepatomegaly, Inguinal hernia, Cardiomyopathy, Cataract, Cherry red spot of the macula, Splenomeg... OMIM:256550
Alpha-Mannosidosis, Adult Form
Pneumonia, Aortic regurgitation, Corneal opacity, Recurrent gastroenteritis, Hepatosplenomegaly, ... ORPHA:309288
Atrial Septal Defect 9
Bicuspid aortic valve, Secundum atrial septal defect OMIM:614475
Lethal Intrauterine Growth Restriction-Cortical Malformation-Congenital Contractures Syndrome
Aplasia/Hypoplasia of the lungs, Blepharophimosis, Abnormal pleura morphology ORPHA:2570
Retinitis Pigmentosa 4
Bone spicule pigmentation of the retina, Retinal atrophy, Attenuation of retinal blood vessels, C... OMIM:613731
Focal Dermal Hypoplasia
Congenital diaphragmatic hernia, Microphthalmia, Corneal opacity, Umbilical hernia, Hernia, Abnor... ORPHA:2092
Olmsted Syndrome 1
Nail dysplasia, Nail dystrophy, Corneal opacity, Flexion contracture, Sparse hair, Subungual hype... OMIM:614594
Linear Verrucous Nevus Syndrome
Aplasia/Hypoplasia of the fovea, Sparse scalp hair, Retinopathy, Cataract, Abnormal cornea morpho... ORPHA:2611
14Q11.2 Microdeletion Syndrome
Highly arched eyebrow, High palate, Sparse lateral eyebrow, Epicanthus, Melanocytic nevus, Ventri... ORPHA:261120
Wagro Syndrome
Aniridia, Hypertension, Corneal opacity, Decreased testicular size, Ptosis, Downslanted palpebral... OMIM:612469
Thanatophoric Dysplasia, Type I
Neonatal respiratory distress, Neonatal death, Pulmonary hypoplasia OMIM:187600
Aortic Valve Disease 3
Aortic valve stenosis, Bicuspid aortic valve, Atrial septal defect OMIM:618496
Onychotrichodysplasia And Neutropenia
Trichorrhexis nodosa, Hypoplastic fingernail, Chronic irritative conjunctivitis, Curly eyelashes,... OMIM:258360
Aniridia-Renal Agenesis-Psychomotor Retardation Syndrome
Developmental glaucoma, Corneal opacity, Aniridia, Telecanthus ORPHA:1064
Waardenburg Syndrome Type 2
Premature graying of hair, Hypopigmented skin patches, Aganglionic megacolon, Hypopigmentation of... ORPHA:895
Autosomal Dominant Epidermolytic Ichthyosis
Erythroderma, Conjunctival hamartoma ORPHA:312
Mesoaxial Hexadactyly And Cardiac Malformation
Pulmonic stenosis, Atrial septal defect, Ventricular septal defect OMIM:249670
Leukoencephalopathy With Vanishing White Matter 2
Optic atrophy, Cataract OMIM:620312
Nance-Horan Syndrome
Retinal detachment, Microcornea, Microphthalmia, Cataract ORPHA:627
Adenosine Deaminase, Elevated, Hemolytic Anemia Due To
Reduced erythrocyte adenosine triphosphate concentration, Reticulocytosis, Erythroid hyperplasia,... OMIM:301083
Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, And Deafness
Iris transillumination defect, Microphthalmia, Microcornea, Coloboma, Shallow orbits, Cataract OMIM:617306
Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To 5Q31.3 Microdeletion
Hypoventilation, Telecanthus, Respiratory distress, Aspiration pneumonia, Sparse lateral eyebrow,... ORPHA:314655
Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies
Highly arched eyebrow, Pulmonary artery atresia, Synophrys, Pulmonary hypoplasia, Recurrent respi... OMIM:618316
Cohen Syndrome
Optic atrophy, Microphthalmia, Iris coloboma, High, narrow palate, Thick hair, Abnormal eyelid mo... ORPHA:193
Linear Skin Defects With Multiple Congenital Anomalies 2
Congenital diaphragmatic hernia, Microphthalmia, Nail dystrophy, Highly arched eyebrow, Ventricul... OMIM:300887
Linear Skin Defects With Multiple Congenital Anomalies 3
Microphthalmia, Histiocytoid cardiomyopathy, Lacrimal duct atresia, Thyroid C cell hyperplasia, C... OMIM:300952
Phace Syndrome
Retinal vascular malformation, Iris coloboma, Microphthalmia, Abnormality of the orbital region, ... ORPHA:42775
Scedosporiosis
Pleuritis, Bronchitis, Pleural empyema, Pulmonary fibrosis, Pneumonia, Respiratory failure ORPHA:449280
Atrioventricular Defect-Blepharophimosis-Radial And Anal Defect Syndrome
Microphthalmia, Anteriorly placed anus, Ocular albinism, Anal atresia, Upslanted palpebral fissur... ORPHA:1352
Fucosidosis
Lipoatrophy, Hepatomegaly, Abnormality of the nail, Corneal opacity, Cardiomegaly ORPHA:349
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 3
Cataract OMIM:609115
Hydroa Vacciniforme
Scarring, Malar rash, Superficial dermal perivascular inflammatory infiltrate, Eczematoid dermati... ORPHA:330058
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3
Short long bone, Death in infancy, Bicuspid aortic valve, Double outlet right ventricle, Hypoplas... OMIM:618845
Brown-Vialetto-Van Laere Syndrome 1
Respiratory failure requiring assisted ventilation, Nocturnal hypoventilation, Death in childhood... OMIM:211530
Bleeding Disorder, Platelet-Type, 8
Impaired ADP-induced platelet aggregation OMIM:609821
Severe Congenital Nemaline Myopathy
Respiratory failure, Pulmonary hypoplasia ORPHA:171430
Primary Effusion Lymphoma
Pleural effusion, Dyspnea ORPHA:48686
Bullous Dystrophy, Hereditary Macular Type
Death in childhood, Acrocyanosis OMIM:302000
Li-Campeau Syndrome
Telecanthus, Patent foramen ovale, Ptosis, Downslanted palpebral fissures, Thick eyebrow, Gastroi... OMIM:619189
Tbck-Related Intellectual Disability Syndrome
Decreased response to growth hormone stimulation test, High, narrow palate, Hirsutism, Corneal op... ORPHA:488632
Hypotrichosis 8
Coarse hair, Ridged nail, Sparse scalp hair, Woolly hair, Sparse eyelashes, Nail pits, Sparse eye... OMIM:278150
Hypomelanosis Of Ito
Cataract, Alopecia, Epicanthus, Iris coloboma OMIM:300337
Adams-Oliver Syndrome
Gastrointestinal hemorrhage, Microphthalmia, Hypoplastic fingernail, Aplastic/hypoplastic toenail... ORPHA:974
Atrial Fibrillation, Familial, 13
Left atrial enlargement, Aortic valve stenosis OMIM:615377
Otodental Syndrome
Microphthalmia, Periodontitis, Abnormal dental enamel morphology, Microcornea, Retinal coloboma, ... ORPHA:2791
Pontocerebellar Hypoplasia, Hypotonia, And Respiratory Insufficiency Syndrome, Neonatal Lethal
Hepatomegaly, Brittle hair, Hypertrophic cardiomyopathy, Sparse eyebrow, Developmental cataract, ... OMIM:618810
Cronkhite-Canada Syndrome
Hypoplastic toenails, Dystrophic fingernails, Hepatomegaly, Intestinal polyposis, Stomach cancer,... ORPHA:2930
Congenital Myopathy 17
Telecanthus, Respiratory insufficiency, Ptosis, Downslanted palpebral fissures, Pulmonary hypopla... OMIM:618975
Incontinentia Pigmenti
Nail dysplasia, Microphthalmia, Nail dystrophy, Ridged nail, Sparse hair, Fine hair, Optic atroph... OMIM:308300
Keratosis Follicularis Spinulosa Decalvans, X-Linked
Ectropion, Dystrophic fingernails, Nail dystrophy, Scarring alopecia of scalp, Corneal dystrophy,... OMIM:308800
Multicentric Carpotarsal Osteolysis Syndrome
Congenital diaphragmatic hernia, Hypertension, Corneal opacity OMIM:166300
Mosaic Trisomy 9
Microphthalmia, Dextrocardia, Small nail, Abnormal heart valve morphology, Corneal opacity, High ... ORPHA:99776
Jacobsen Syndrome
Optic atrophy, Microphthalmia, Annular pancreas, Telecanthus, Nasolacrimal duct obstruction, Micr... OMIM:147791
Hereditary Sensory And Autonomic Neuropathy Type 4
Corneal ulceration, Corneal scarring, Recurrent aspiration pneumonia, Dysphagia, Orthostatic hypo... ORPHA:642
Macrocephaly-Intellectual Disability-Neurodevelopmental Disorder-Small Thorax Syndrome
Large for gestational age, Lactose intolerance, Curly hair, Intestinal polyp, Decreased circulati... ORPHA:457485
Acquired Hypertrichosis Lanuginosa
Hypopigmentation of hair, Glossitis, Chronic diarrhea, Abnormal eyebrow morphology, Poor appetite... ORPHA:2221
Granulomatous Disease, Chronic, Autosomal Recessive, 3
Perioral eczema, Recurrent aphthous stomatitis, Anoperineal fistula, Elevated circulating C-react... OMIM:613960
Linear Skin Defects With Multiple Congenital Anomalies 1
Congenital diaphragmatic hernia, Microphthalmia, Junctional ectopic tachycardia, Peters anomaly, ... OMIM:309801
Mevalonic Aciduria
Cataract, Downslanted palpebral fissures, Splenomegaly ORPHA:29
Primary Ciliary Dyskinesia
Atelectasis, Pulmonary situs ambiguus, Nasal polyposis, Respiratory failure, Respiratory tract in... ORPHA:244
Left Ventricular Noncompaction 7
Left ventricular noncompaction cardiomyopathy, Left ventricular noncompaction OMIM:615092
Retinitis Pigmentosa
Optic atrophy, Posterior subcapsular cataract, Bone spicule pigmentation of the retina, Keratocon... ORPHA:791
Gapo Syndrome
Optic atrophy, Palpebral edema, Keratoconus, Sparse eyelashes, Sparse eyebrow, Umbilical hernia, ... ORPHA:2067
Netherton Syndrome
Brittle hair, Sparse scalp hair, Chronic rhinitis, Eczematoid dermatitis, Sparse eyebrow, Brittle... OMIM:256500
Familial Pterygium Of The Conjunctiva
Opacification of the corneal stroma ORPHA:2989
Hypotrichosis 12
Sparse or absent eyelashes, Abnormal sweat gland morphology, Abnormality of the nail, Slow-growin... OMIM:615885
Microphthalmia, Syndromic 9
Bilateral lung agenesis, Respiratory insufficiency, Pulmonary artery atresia, Agenesis of pulmona... OMIM:601186
Baralle-Macken Syndrome
Cataract, High, narrow palate, Hirsutism, Upslanted palpebral fissure OMIM:619255
Microcephaly And Chorioretinopathy, Autosomal Recessive, 3
Microphthalmia, Chorioretinal dysplasia OMIM:616335
Kapur-Toriello Syndrome
Microphthalmia, Retinal coloboma, Intestinal malrotation, Tetralogy of Fallot, Ventricular septal... ORPHA:2328
Mercury Poisoning
Respiratory failure, Interstitial pneumonitis, Dyspnea, Respiratory distress ORPHA:330021
Meckel Syndrome
Abnormal chorioretinal morphology, Situs inversus totalis, Optic atrophy, Microphthalmia, Anophth... ORPHA:564
Ichthyosis-Intellectual Disability-Dwarfism-Renal Impairment Syndrome
Cataract, Abnormal fingernail morphology ORPHA:2278
Oculopharyngeal Myopathy With Leukoencephalopathy 1
Respiratory failure, Ptosis OMIM:618637
Histiocytosis-Lymphadenopathy Plus Syndrome
Corneal arcus, Flexion contracture of toe, Joint contracture of the 5th finger, Pulmonic stenosis... OMIM:602782
Combined Oxidative Phosphorylation Deficiency 33
Astigmatism, Hepatomegaly, Cardiac arrest, Cardiomyopathy, Ptosis, Left ventricular hypertrophy, ... OMIM:617713
Trisomy 1Q
Congenital diaphragmatic hernia, Anophthalmia, Anal atresia, Cryptorchidism, Omphalocele, Camptod... ORPHA:261344
Fabry Disease
Hypertension, Corneal opacity, Left ventricular hypertrophy, Optic atrophy, Transient ischemic at... ORPHA:324
Woolly Hair, Autosomal Dominant
Coarse hair, Slow-growing hair, Abnormal eyelash morphology, Woolly hair, Abnormal eyebrow morpho... OMIM:194300
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency
Chronic hemolytic anemia, Anemia, Reduced red cell pyruvate kinase level, Reticulocytosis, Poikil... ORPHA:766
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome
Microphthalmia, Retinal detachment, High palate, Long palpebral fissure, Cleft palate, Epicanthus... ORPHA:163649
Vacterl With Hydrocephalus
Microphthalmia, Esophageal atresia, Inguinal hernia, Anophthalmia, Microcornea, Abnormal optic ne... ORPHA:3412
Noonan Syndrome 11
Hypertrophic cardiomyopathy, Pulmonic stenosis, Ptosis, Downslanted palpebral fissures, Atrial se... OMIM:618499
Neurodevelopmental, Jaw, Eye, And Digital Syndrome
Microphthalmia, Inguinal hernia, Joint contracture of the 5th finger, Patent foramen ovale, Joint... OMIM:618914
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11
Retinal detachment, Optic nerve hypoplasia, Microphthalmia, Cataract OMIM:615181
3Q29 Microdeletion Syndrome
Microphthalmia, Gastroesophageal reflux, High palate, Pulmonary arterial hypertension, Downslante... ORPHA:65286
Oculocerebrocutaneous Syndrome
Congenital diaphragmatic hernia, Iris coloboma, Corneal opacity, Ptosis, Abnormal fingernail morp... ORPHA:1647
Severe Intellectual Disability-Poor Language-Strabismus-Grimacing Face-Long Fingers Syndrome
Astigmatism, Optic nerve hypoplasia, High palate, Long palpebral fissure, Hyperopic astigmatism, ... ORPHA:363686
Craniofrontonasal Syndrome
Congenital diaphragmatic hernia, Breast hypoplasia, Axillary pterygium, Telecanthus, Ridged nail,... OMIM:304110
Serkal Syndrome
Pulmonary hypoplasia ORPHA:139466
Cataract 50 With Or Without Glaucoma
Retinal detachment, Persistent pupillary membrane, Cataract OMIM:620253
Maternal Uniparental Disomy Of Chromosome 2
Respiratory infections in early life, Neonatal respiratory distress, Miscarriage, Pulmonary hypop... ORPHA:96179
Xeroderma Pigmentosum, Complementation Group D
Ectropion, Corneal neovascularization, Microphthalmia, Entropion, Keratitis, Conjunctivitis, Cata... OMIM:278730
Adams-Oliver Syndrome 4
Hypoplastic toenails, Microphthalmia, Toenail dysplasia, Umbilical hernia, Atrial septal defect, ... OMIM:615297
Homocystinuria Due To Cystathionine Beta-Synthase Deficiency
Pancreatitis, Inguinal hernia, Brittle hair, High palate, Ectopia lentis, Mitral valve prolapse, ... OMIM:236200
Immunodeficiency 60 And Autoimmunity
Decreased circulating IgE, Chronic diarrhea, Crohn's disease, Decreased circulating IgG level, Br... OMIM:618394
Lissencephaly 8
Optic atrophy, Microphthalmia, Cataract OMIM:617255
Jeune Syndrome
Respiratory insufficiency, Aplasia/Hypoplasia of the lungs ORPHA:474
Mosaic Variegated Aneuploidy Syndrome
Microphthalmia, Intestinal polyposis, Aortic regurgitation, Stomach cancer, Corneal opacity, Down... ORPHA:1052
Subaortic Stenosis-Short Stature Syndrome
Microphthalmia, Acne, Inguinal hernia, Membranous subvalvular aortic stenosis, Epicanthus, Arrhyt... ORPHA:3191
Cerebrooculofacioskeletal Syndrome 2
Microphthalmia, Camptodactyly of finger, Developmental cataract, Sparse hair, Cataract OMIM:610756
Congenital Muscular Dystrophy-Infantile Cataract-Hypogonadism Syndrome
Cataract, Ptosis, Abnormality of the ovary, Decreased testicular size ORPHA:1875
Flynn-Aird Syndrome
Cataract, Alopecia of scalp, Rod-cone dystrophy, Alopecia OMIM:136300
Autosomal Recessive Amelia
Aplasia/Hypoplasia of the lungs ORPHA:1027
Immunodeficiency 58
Chronic otitis media, Recurrent aphthous stomatitis, Chronic diarrhea, Seborrheic dermatitis, Dec... OMIM:618131
Myopathy, Congenital, With Fiber-Type Disproportion, X-Linked
Ptosis, Respiratory insufficiency due to muscle weakness, Respiratory distress OMIM:300580
Coffin-Siris Syndrome 8
Poor suck, Sparse scalp hair, Long eyelashes, Eczematoid dermatitis, Failure to thrive, Ptosis, T... OMIM:618362
Ectodermal Dysplasia 4, Hair/Nail Type
Nail dystrophy, Brittle hair, Abnormal sweat gland morphology, Absent eyelashes, Absent eyebrow, ... OMIM:602032
Meckel Syndrome, Type 8
Microphthalmia, Enlarged kidney, Anophthalmia, Pericardial effusion, Cleft palate OMIM:613885
22Q11.2 Deletion Syndrome
Chronic otitis media, Gastrointestinal hemorrhage, Corneal neovascularization, Microphthalmia, An... ORPHA:567
Autosomal Recessive Multiple Pterygium Syndrome
Popliteal pterygium, Axillary pterygium, Multiple pterygia, Telecanthus, Pterygium, Abnormal eyel... ORPHA:2990
Wagr Syndrome
Cataract, Ptosis, Aplasia/Hypoplasia of the iris, Cryptorchidism ORPHA:893
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 6
Optic atrophy, Retinal dysplasia, Developmental cataract, Flexion contracture, Posterior synechia... OMIM:613154
Cardiomyopathy, Dilated, 1S
Perimembranous ventricular septal defect, Ebstein anomaly of the tricuspid valve, Interstitial ca... OMIM:613426
Loeffler Endocarditis
Left atrial enlargement, Endocardial fibrosis, Abnormal morphology of the chordae tendinae of the... ORPHA:75566
Short Stature, Developmental Delay, And Congenital Heart Defects
Patent foramen ovale, Developmental cataract, Atrial septal defect, Ventricular septal defect, Uv... OMIM:617044
Chromosome 8Q21.11 Deletion Syndrome
Short palpebral fissure, Microphthalmia, High palate, Camptodactyly, Ptosis, Downslanted palpebra... OMIM:614230
Spherocytosis, Type 5
Abnormal platelet count, Spherocytosis, Reticulocytosis, Splenomegaly, Hemolytic anemia, Abnormal... OMIM:612690
Sarcoidosis, Susceptibility To, 2
Pneumothorax, Abnormal pulmonary interstitial morphology, Emphysema, Pleural effusion, Dyspnea, E... OMIM:612387
Griscelli Syndrome, Type 2
Death in childhood, Silver-gray hair, Melanin pigment aggregation in hair shafts, Hypopigmentatio... OMIM:607624
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset
Respiratory failure requiring assisted ventilation, Respiratory distress, Respiratory insufficien... ORPHA:308552
Syndromic Recessive X-Linked Ichthyosis
Abnormal stomach morphology, Testicular seminoma, Cryptorchidism, Corneal opacity ORPHA:281090
Vogt-Koyanagi-Harada Disease
Premature graying of hair, Retinal detachment, Abnormal eyelash morphology, Sparse scalp hair, Po... ORPHA:3437
Smith-Kingsmore Syndrome
Large for gestational age, Decreased circulating IgA level, Feeding difficulties, Curly hair OMIM:616638
Meacham Syndrome
Congenital alveolar dysplasia, Stillbirth, Transposition of the great arteries, Death in childhoo... OMIM:608978
Bardet-Biedl Syndrome 2
Postaxial hand polydactyly, Bicuspid aortic valve, Atrial septal defect, Dilated cardiomyopathy, ... OMIM:615981
Tricho-Retino-Dento-Digital Syndrome
Juvenile cataract, Abnormality of retinal pigmentation, Uncombable hair, Sparse hair ORPHA:1264
Tempi Syndrome
Polycythemia, Increased hematocrit ORPHA:284227
Sulfite Oxidase Deficiency, Isolated
Ectopia lentis, Fine hair, Eczematoid dermatitis OMIM:272300
Martsolf Syndrome 1
Congestive heart failure, Microphthalmia, Inguinal hernia, Cardiac arrest, Cardiomyopathy, Low po... OMIM:212720
Noonan Syndrome 3
Tricuspid valve prolapse, Patent foramen ovale, Hypertrophic cardiomyopathy, Pulmonic stenosis, P... OMIM:609942
Fryns Syndrome
Congenital diaphragmatic hernia, Microphthalmia, Aganglionic megacolon, Hypoplastic fingernail, G... ORPHA:2059
Sialidosis Type 1
Corneal opacity, Retinopathy, Cherry red spot of the macula, Splenomegaly, Cataract, Hernia ORPHA:812
Hurler-Scheie Syndrome
Hepatomegaly, Aortic regurgitation, Inguinal hernia, Hirsutism, Corneal opacity, Pulmonary arteri... OMIM:607015
Left Ventricular Noncompaction 10
Congestive heart failure, Pulmonary arterial hypertension, Syncope, Increased left ventricular en... OMIM:615396
Branchial Arch Syndrome, X-Linked
Pulmonic stenosis, Downslanted palpebral fissures OMIM:301950
Chronic Atrial And Intestinal Dysrhythmia
Left atrial enlargement, Sick sinus syndrome, Atrial flutter, Bradycardia, Atrial fibrillation, P... OMIM:616201
Phosphoserine Aminotransferase Deficiency
Apnea, Cyanotic episode, Death in infancy OMIM:610992
Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2
Perianal abscess, Increased circulating interleukin 6 concentration, Anoperineal fistula, Elevate... OMIM:301074
Developmental Delay, Language Impairment, And Ocular Abnormalities
Inguinal hernia, Myopic astigmatism, Pulmonic stenosis, Facial telangiectasia, Developmental cata... OMIM:620141
Moynahan Syndrome
Cachexia, Sparse hair, Alopecia ORPHA:2574
Hemochromatosis, Type 4
Hepatomegaly, Cardiomyopathy, Osteoarthritis, Arrhythmia, Cataract OMIM:606069
Ciliary Dyskinesia, Primary, 28
Respiratory insufficiency due to defective ciliary clearance, Dynein arm defect of respiratory mo... OMIM:615505
Dahlberg-Borer-Newcomer Syndrome
Hypoparathyroidism, Telecanthus, Generalized hirsutism, Mitral valve prolapse, Anonychia, Cataract ORPHA:1563
Congenital Myopathy 14
Respiratory failure, Apnea, Respiratory insufficiency due to muscle weakness, Death in infancy OMIM:618414
Mitochondrial Complex Ii Deficiency, Nuclear Type 1
Ragged-red muscle fibers, Hypertrophic cardiomyopathy, Abnormal mitochondria in muscle tissue, Pt... OMIM:252011
Neurodegeneration And Seizures Due To Copper Transport Defect
Pneumothorax, Pulmonary hypoplasia, Respiratory distress OMIM:620306
Tularemia
Respiratory distress, Pleural effusion, Conjunctival hyperemia, Conjunctivitis, Pneumonia ORPHA:3392
Dyssegmental Dysplasia, Silverman-Handmaker Type
Respiratory insufficiency, Miscarriage, Pulmonary hypoplasia, Pterygium ORPHA:1865
Microphthalmia, Isolated 8
Short palpebral fissure, Microphthalmia, True anophthalmia, Entropion, Anophthalmia, Retinal deta... OMIM:615113
Agel Amyloidosis
Bilateral ptosis, Nail dystrophy, Blepharochalasis, Corneal ulceration, Xerostomia, Cardiomyopath... ORPHA:85448
Cirrhotic Cardiomyopathy
Left atrial enlargement, Elevated pulmonary artery pressure, Fourth heart sound, Congestive heart... ORPHA:57777
Immunodeficiency 104
Recurrent otitis media, Failure to thrive secondary to recurrent infections, Gastroesophageal ref... OMIM:608971
Basel-Vanagaite-Smirin-Yosef Syndrome
Microphthalmia, High, narrow palate, Cholelithiasis, Inguinal hernia, Microcornea, Sparse scalp h... ORPHA:464738
Cerebrooculonasal Syndrome
Narrow palate, Anophthalmia, Optic nerve hypoplasia, High palate, Sparse eyelashes, Ptosis, Spars... OMIM:605627
Lowe Oculocerebrorenal Syndrome
Dense posterior cortical cataract, Microphthalmia, Corneal scarring, Enamel hypoplasia, Camptodac... OMIM:309000
Gorlin-Chaudhry-Moss Syndrome
Astigmatism, Upper eyelid coloboma, Abnormal eyelid morphology, Low anterior hairline, Sclerocorn... ORPHA:2095
Robin Sequence With Distinctive Facial Appearance And Brachydactyly
Short palpebral fissure, Microphthalmia, Ventricular septal hypertrophy, Telecanthus, Small nail,... OMIM:608670
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Hypertriglyceridemia, Decreased circulating antibody level, Recurrent sinusitis, Increased circul... OMIM:613101
Woolly Hair, Hypotrichosis, Everted Lower Lip, And Outstanding Ears
Woolly hair, Sparse hair OMIM:278200
Oculodentodigital Dysplasia, Autosomal Recessive
Short palpebral fissure, Microphthalmia, Telecanthus, Microcornea, Persistent pupillary membrane,... OMIM:257850
Combined Oxidative Phosphorylation Deficiency 31
Cataract, Left ventricular noncompaction, Hypertrophic cardiomyopathy OMIM:617228
Anaplastic Thyroid Carcinoma
Dyspnea, Neoplasm of the lung, Respiratory distress ORPHA:142
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4
Optic atrophy, Atrial septal defect, Microphthalmia, Transposition of the great arteries, Retinal... OMIM:253800
Mitochondrial Complex Iv Deficiency, Nuclear Type 20
Death in childhood, Hepatomegaly, Pulmonary arterial hypertension, Long eyelashes, Synophrys, Dea... OMIM:619064
Ectodermal Dysplasia With Facial Dysmorphism And Acral, Ocular, And Brain Anomalies
Optic atrophy, Microphthalmia, Astigmatism, Scarring alopecia of scalp, Enamel hypoplasia, Ectopi... OMIM:618727
Myotubular Myopathy With Abnormal Genital Development
Respiratory distress, Neonatal death, Atelectasis, Death in infancy OMIM:300219
Congenital Myopathy 10A, Severe Variant
Respiratory insufficiency, Respiratory failure, Respiratory distress OMIM:614399
Dehydrated Hereditary Stomatocytosis 2
Anisopoikilocytosis, Increased mean corpuscular hemoglobin concentration, Increased mean corpuscu... OMIM:616689
Trisomy 18
Congenital diaphragmatic hernia, Narrow palate, Microphthalmia, Cyclopia, Esophageal atresia, Mic... ORPHA:3380
Blepharophimosis, Ptosis, And Epicanthus Inversus
Microphthalmia, Increased circulating gonadotropin level, Telecanthus, Highly arched eyebrow, Mic... OMIM:110100
Glycine Encephalopathy 2
Respiratory failure OMIM:620398
Red Cell Phospholipid Defect With Hemolysis
Splenomegaly, Reticulocytosis OMIM:179700
Neurofibromatosis-Noonan Syndrome
Pulmonic stenosis, Ptosis, Downslanted palpebral fissures, Hypertrophic cardiomyopathy ORPHA:638
Retinitis Pigmentosa 84
Macular coloboma, Bone spicule pigmentation of the retina, Attenuation of retinal blood vessels, ... OMIM:618220
Kahrizi Syndrome
Cataract, Elbow contracture, Knee flexion contracture, Iris coloboma OMIM:612713
Fraser Syndrome 1
Bilateral microphthalmos, Upper eyelid coloboma, Anophthalmia, Small nail, Absent eyelashes, Corn... OMIM:219000
Tubulointerstitial Nephritis And Uveitis Syndrome
Scleritis, Choroidal neovascularization, Iris nevus, Cystoid macular edema, Skin rash, Chorioreti... ORPHA:91500
Hermansky-Pudlak Syndrome 9
Thrombocytopenia, Abnormal platelet aggregation OMIM:614171
Fish-Eye Disease
Angina pectoris, Hepatomegaly, Corneal opacity, Splenomegaly ORPHA:79292
Abcd Syndrome
Polycythemia OMIM:600501
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Nail dystrophy, Cachexia, Abnormal intestine morphology, Abnormal blood ion concentration, Psoria... ORPHA:37042
Renal Hypodysplasia/Aplasia 1
Pulmonary hypoplasia OMIM:191830
Diffuse Palmoplantar Keratoderma-Acrocyanosis Syndrome
Acrocyanosis ORPHA:86918
Cataract-Nephropathy-Encephalopathy Syndrome
Cataract ORPHA:1380
3C Syndrome
Aortic valve stenosis, Abnormal mitral valve morphology, Pulmonic stenosis, Intestinal malrotatio... ORPHA:7
Chromosome 18Q Deletion Syndrome
Aortic valve stenosis, Bifid uvula, Umbilical hernia, Optic atrophy, Decreased response to growth... OMIM:601808
Choroidal Atrophy-Alopecia Syndrome
Supernumerary nipple, Sparse or absent eyelashes, Abnormal fingernail morphology, Abnormal toenai... ORPHA:1433
Seizures, Benign Familial Infantile, 3
Apnea, Cyanosis OMIM:607745
Prune1-Related Neurological Syndrome
Optic atrophy, Gastroesophageal reflux, Hypertrophic cardiomyopathy, Retinopathy, Cataract ORPHA:544469
Familial Hemophagocytic Lymphohistiocytosis
Abnormal circulating cytokine concentration, Decreased liver function, Increased circulating inte... ORPHA:540
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Pulmonary hypoplasia, Pleural effusion, Telecanthus OMIM:616897
Uruguay Faciocardiomusculoskeletal Syndrome
Left atrial enlargement, Skeletal muscle hypertrophy, Ventricular hypertrophy, Cardiomyopathy, Br... OMIM:300280
Hadziselimovic Syndrome
Ventricular hypertrophy, Pulmonary artery atresia, High palate, Anal atresia, Ptosis, Tetralogy o... OMIM:612946
Palmoplantar Keratoderma And Woolly Hair
Leukonychia, Sparse scalp hair, Woolly hair, Sparse eyelashes, Sparse body hair, Sparse eyebrow OMIM:616099
Lymphatic Malformation 12
Pleural thickening, Death in adolescence, Recurrent upper and lower respiratory tract infections,... OMIM:620014
Platyspondylic Lethal Skeletal Dysplasia, Torrance Type
Stillbirth, Pulmonary hypoplasia, Respiratory distress OMIM:151210
Global Developmental Delay With Or Without Impaired Intellectual Development
Long palpebral fissure, Pulmonary sequestration OMIM:618330
Hypomyelination Neuropathy-Arthrogryposis Syndrome
Respiratory distress ORPHA:2680
Frontoocular Syndrome
Short palpebral fissure, Pulmonic stenosis, Ptosis, Epicanthus, Atrial septal defect, Upslanted p... OMIM:605321
Ifap Syndrome 1, With Or Without Bresheck Syndrome
Recurrent corneal erosions, Nail dysplasia, Corneal neovascularization, Nail dystrophy, Periungua... OMIM:308205
Spinal Muscular Atrophy With Congenital Bone Fractures 1
Neonatal respiratory distress, Pulmonary hypoplasia OMIM:616866
Ophthalmomandibulomelic Dysplasia
Camptodactyly of finger, Corneal opacity, Megalocornea ORPHA:2741
De Barsy Syndrome
Inguinal hernia, Corneal opacity, High palate, Abnormal fundus fluorescein angiography, Cryptorch... ORPHA:2962
Microcephaly-Micromelia Syndrome
Short palpebral fissure, Neonatal death, Pulmonary hypoplasia OMIM:251230
Neurocardiofaciodigital Syndrome
Narrow palpebral fissure, Double inlet left ventricle, High palate, Sparse eyebrow, Tetralogy of ... OMIM:619869
Left Ventricular Noncompaction 8
Congestive heart failure, Left ventricular systolic dysfunction, Arrhythmia, Dilated cardiomyopat... OMIM:615373
10Q22.3Q23.3 Microdeletion Syndrome
Tricuspid valve prolapse, Atrioventricular canal defect, Downslanted palpebral fissures, Epicanth... ORPHA:276413
Scimitar Syndrome
Pneumothorax, Bronchogenic cyst, Tricuspid atresia, Partial anomalous pulmonary venous return, De... ORPHA:185
Hyper-Ige Syndrome 3, Autosomal Recessive, With Recurrent Infections
Chronic oral candidiasis, Recurrent otitis media, Increased circulating IgE level, Chronic mucocu... OMIM:618282
Phace Association
Optic atrophy, Microphthalmia, Optic nerve hypoplasia, Developmental cataract, Increased retinal ... OMIM:606519
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome
Retinal thinning, Microphthalmia, Coloboma, Retinal atrophy, Corneal opacity, Cone/cone-rod dystr... ORPHA:85167
Waardenburg Syndrome, Type 2F
Premature graying of hair, Hypermelanotic macule, Telecanthus, Hypopigmentation of the skin, Hete... OMIM:619947
Joubert Syndrome 21
Dyspnea, Ptosis, Apnea, Pulmonary hypoplasia, Respiratory failure OMIM:615636
Car T Cell Therapy-Associated Cytokine Release Syndrome
Pulmonary edema, Pleural effusion, Hypoxemia, Respiratory failure, Tachypnea ORPHA:542323
Eng-Strom Syndrome
Camptodactyly of finger, Ventricular septal defect, Arthritis, Abnormal cardiac septum morphology ORPHA:1937
Perifolliculitis Capitis Abscedens Et Suffodiens, Familial
Perifolliculitis, Alopecia of scalp, Alopecia OMIM:260910
Immunodeficiency, Common Variable, 8, With Autoimmunity
Pneumonia, Recurrent otitis media, Villous atrophy, Chronic diarrhea, Thyroiditis, Arthritis, Uve... OMIM:614700
Alg3-Cdg
Pulmonary hypoplasia ORPHA:79321
Seizures, Benign Familial Infantile, 1
Apnea, Cyanosis OMIM:601764
Nipah Virus Disease
Recurrent pharyngitis, Respiratory distress ORPHA:99825
Anemia, Congenital Dyserythropoietic, Type Ib
Anemia, Anemia of inadequate production, Reticulocytosis, Poikilocytosis, Anisocytosis, Splenomeg... OMIM:615631
Overhydrated Hereditary Stomatocytosis
Decreased mean corpuscular hemoglobin concentration, Reticulocytosis, Abnormal mean corpuscular v... ORPHA:3203
Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome
Microphthalmia, Inguinal hernia, Anophthalmia, Bifid uvula, Cleft palate, Cataract, Submucous cle... ORPHA:2250
Absence Deformity Of Leg-Cataract Syndrome
Cataract, Anal atresia ORPHA:2310
Galactose Epimerase Deficiency
Cataract, Hepatomegaly, Splenomegaly ORPHA:79238
Intellectual Developmental Disorder, Autosomal Dominant 70
Short palpebral fissure, Retinal telangiectasia, Retinal detachment, Optic nerve hypoplasia, High... OMIM:620157
Gaucher Disease, Type Iiic
Hepatomegaly, Mitral valve calcification, Mitral stenosis, Splenomegaly, Aortic valve calcificati... OMIM:231005
Frontofacionasal Dysplasia
S-shaped palpebral fissures, Microphthalmia, Telecanthus, Frontal cutaneous lipoma, Microcornea, ... OMIM:229400
Marden-Walker Syndrome
Ptosis, Pulmonary hypoplasia, Blepharophimosis, Epicanthus OMIM:248700
Emphysema, Congenital Lobar
Respiratory distress OMIM:130710
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 9
Death in childhood, Recurrent lower respiratory tract infections, Respiratory distress, Death in ... OMIM:618426
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum
Abnormality of the orbital region, Pterygium, Arthritis, Hypertension, Hirsutism, Omphalocele, Pa... ORPHA:371428
Frontorhiny
Microphthalmia, Pericallosal lipoma, Ptosis, Camptodactyly of finger, Cleft palate, Bifid tongue,... ORPHA:391474
Prune Belly Syndrome With Pulmonic Stenosis, Mental Retardation, And Deafness
Pulmonic stenosis OMIM:264140
Renpenning Syndrome
High, narrow palate, Alopecia, Anal atresia, Decreased testicular size, Cleft palate, Epicanthus,... ORPHA:3242
Gray Platelet Syndrome
Impaired thrombin-induced platelet aggregation, Abnormal number of alpha granules, Impaired colla... OMIM:139090
Trisomy 17P
High anterior hairline, Broad eyebrow, High palate, Low posterior hairline, Aortic valve stenosis... ORPHA:261290
Corneal Dystrophy, Meesmann, 1
Punctate opacification of the cornea, Corneal dystrophy OMIM:122100
Albinism, Oculocutaneous, Type Iii
Albinism, Red hair, Partial albinism OMIM:203290
Pili Torti, Early-Onset
Hair shafts flattened at irregular intervals and twisted through 180 degrees about their axes, Dr... OMIM:261900
Amoebic Keratitis
Abnormal anterior chamber morphology, Abnormal corneal epithelium morphology, Corneal ulceration,... ORPHA:67043
Severe X-Linked Mitochondrial Encephalomyopathy
Respiratory insufficiency, Respiratory distress ORPHA:238329
Kagami-Ogata Syndrome
Short palpebral fissure, Pulmonary hypoplasia, Blepharophimosis OMIM:608149
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 1
Congestive heart failure, Gastrointestinal hemorrhage, Inguinal hernia, Retinal detachment, Kerat... OMIM:225400
Matthew-Wood Syndrome
Abnormal lung morphology, Pulmonary hypoplasia ORPHA:2470
Mucopolysaccharidosis, Type Ivb
Grayish enamel, Hepatomegaly, Inguinal hernia, Corneal opacity, Aortic valve stenosis, Opacificat... OMIM:253010
Intellectual Developmental Disorder, X-Linked 106
Bicuspid aortic valve, Clinodactyly of the 5th finger, Clinodactyly, Synophrys OMIM:300997
Presynaptic Congenital Myasthenic Syndromes
Cyanosis, Sudden episodic apnea, Apneic episodes precipitated by illness, fatigue, stress, Ptosis... ORPHA:98914
Congenital Myasthenic Syndrome
Cyanosis, Sudden episodic apnea, Apneic episodes precipitated by illness, fatigue, stress, Ptosis... ORPHA:590
Emanuel Syndrome
Congenital diaphragmatic hernia, Chronic oral candidiasis, Astigmatism, Recurrent otitis media, I... OMIM:609029
Venular Insufficiency, Systemic
Cyanosis OMIM:192700
Sulfhemoglobinemia, Congenital
Cyanosis OMIM:185460
Microphthalmia, Isolated 1
Microphthalmia, Anophthalmia OMIM:251600
Congenital Muscular Dystrophy, Fukuyama Type
Optic atrophy, Retinal dysplasia, Camptodactyly of finger, Flexion contracture, Cataract, Dilated... ORPHA:272
Birt-Hogg-Dubé Syndrome
Pneumothorax, Pulmonary sequestration, Emphysema ORPHA:122
Gastrointestinal Defects And Immunodeficiency Syndrome 1
Ileal atresia, Intestinal obstruction, Rectal atresia, Intestinal atresia, Decreased circulating ... OMIM:243150
Ritscher-Schinzel Syndrome 4
Narrow palate, High palate, Curly hair, Downslanted palpebral fissures, Dysphagia, Cryptorchidism OMIM:619435
Myopia, High, With Cataract And Vitreoretinal Degeneration
Retinal detachment, Peripheral vitreoretinal degeneration, Vitreous floaters, Lattice retinal deg... OMIM:614292
Phenylketonuria
Cataract, Blue irides, Fair hair, Eczematoid dermatitis OMIM:261600
8Q12 Microduplication Syndrome
Telecanthus, Gastroesophageal reflux, Highly arched eyebrow, Long palpebral fissure, Epicanthus, ... ORPHA:228399
Chromosome 1Q41-Q42 Deletion Syndrome
Upslanted palpebral fissure, Downslanted palpebral fissures, Pulmonary hypoplasia, Sparse eyebrow OMIM:612530
Postsynaptic Congenital Myasthenic Syndromes
Exertional dyspnea, Ptosis, Orthopnea, Respiratory failure, Cyanosis ORPHA:98913
2Q31.1 Microdeletion Syndrome
Short palpebral fissure, Microphthalmia, Hypoplastic toenails, Inguinal hernia, Abnormal hair mor... ORPHA:251014
Hereditary Butyrylcholinesterase Deficiency
Respiratory failure requiring assisted ventilation, Respiratory failure ORPHA:132
Cerebrooculonasal Syndrome
Anophthalmia, High palate, Sparse eyelashes, Sparse eyebrow, Epicanthus, Upslanted palpebral fissure ORPHA:66625
Combined Oxidative Phosphorylation Deficiency 20
Ptosis, Left ventricular noncompaction, Hypertrophic cardiomyopathy OMIM:615917
Immunodeficiency 100 With Pulmonary Alveolar Proteinosis And Hypogammaglobulinemia
Death in childhood, Respiratory insufficiency, Intraalveolar phospholipid accumulation, Death in ... OMIM:618042
Verrucous Hemangioma
Inflammatory abnormality of the skin ORPHA:464318
Platelet Disorder, Familial, With Associated Myeloid Malignancy
Abnormal dense granule content, Impaired platelet aggregation, Abnormal platelet shape, Impaired ... OMIM:601399
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy
Retinal thinning, Microphthalmia, Recurrent otitis media, Abnormality of macular pigmentation, Re... OMIM:608940
Trichodental Dysplasia
Slow-growing hair, Fine hair, Sparse hair, Brittle hair OMIM:601453
Charge Syndrome
Microphthalmia, Tracheoesophageal fistula, Pulmonic stenosis, Dysphagia, Dysplastic tricuspid val... OMIM:214800
Skin Creases, Congenital Symmetric Circumferential, 1
Short palpebral fissure, Microphthalmia, Microcornea, Hypoplastic nipples, High palate, Cleft pal... OMIM:156610
Uncombable Hair Syndrome 1
Uncombable hair, Pili canaliculi, Dry hair OMIM:191480
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome
Hypochromic microcytic anemia, HbS hemoglobin, Splenic infarction, Persistence of hemoglobin F, R... ORPHA:251380
Mucolipidosis Type Iv
Retinopathy, Abnormality of retinal pigmentation, Corneal opacity ORPHA:578
Gelatinous Drop-Like Corneal Dystrophy
Corneal neovascularization, Central opacification of the cornea, Conjunctival amyloidosis, Subepi... ORPHA:98957
Bresek Syndrome
Microphthalmia, Iris coloboma, Aganglionic megacolon, Optic nerve hypoplasia, Decreased testicula... ORPHA:85284
Impaired Intellectual Development, Truncal Obesity, Retinal Dystrophy, And Micropenis Syndrome
Cataract, Retinal dystrophy OMIM:610156
Isolated Atp Synthase Deficiency
Optic atrophy, Hepatomegaly, Hypertrophic cardiomyopathy, Ptosis, Arrhythmia, Cataract, Dilated c... ORPHA:254913
Undifferentiated Pleomorphic Sarcoma
Anorexia, Weight loss ORPHA:2023
46,Xx Sex Reversal With Dysgenesis Of Kidneys, Adrenals, And Lungs
Pulmonary artery stenosis, Congenital pulmonary airway malformation, Pulmonary hypoplasia, Bilate... OMIM:611812
Scheie Syndrome
Hepatomegaly, Aortic regurgitation, Corneal opacity, Rhinitis, Splenomegaly ORPHA:93474
Isobutyryl-Coa Dehydrogenase Deficiency
Pulmonic stenosis, Dilated cardiomyopathy ORPHA:79159
Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency
Diarrhea, Crohn's disease, Optic neuritis, Decreased circulating antibody level, Thyroiditis, Ato... ORPHA:436159
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 3
Bradycardia, Cardiomyopathy, Ptosis, Dysphagia, Arrhythmia, Cataract OMIM:609286
Methemoglobinemia, Beta Type
Cyanosis OMIM:617971
Methemoglobinemia, Alpha Type
Cyanosis OMIM:617973
X-Linked Female Restricted Facial Dysmorphism-Short Stature-Choanal Atresia-Intellectual Disability
Short palpebral fissure, Astigmatism, Telecanthus, Cyst of the ductus choledochus, Hypoplastic ni... ORPHA:480880
Cardiac Diverticulum
Transposition of the great arteries, Tricuspid atresia, Dextrocardia, Partial anomalous pulmonary... ORPHA:1686
Ceroid Lipofuscinosis, Neuronal, 10
Respiratory insufficiency, Respiratory failure, Apnea, Neonatal death OMIM:610127
Ectodermal Dysplasia 7, Hair/Nail Type
Dystrophic fingernails, Brittle hair, Abnormal sweat gland morphology, Dystrophic toenail, Sparse... OMIM:614929
Donnai-Barrow Syndrome
Congenital diaphragmatic hernia, Retinal dystrophy, Retinal detachment, Hypoplasia of the iris, O... OMIM:222448
Sin3A-Related Intellectual Disability Syndrome Due To A Point Mutation
Fragile nails, Fine hair ORPHA:500166
Acrocephalopolydactylous Dysplasia
Upslanted palpebral fissure, Pulmonary hypoplasia, Epicanthus, Extrapulmonary lobar sequestration OMIM:200995
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 14
Ileal atresia, Prolonged QT interval, Ptosis, Joint contracture, Cataract OMIM:615351
Witkop Syndrome
Ridged nail, Abnormal sweat gland morphology, Hypoplastic fifth toenail, Nail pits, Sparse hair, ... OMIM:189500
Mucopolysaccharidosis, Type Iiib
Hepatomegaly, Hirsutism, Synophrys, Asymmetric septal hypertrophy, Splenomegaly, Recurrent upper ... OMIM:252920
Quebec Platelet Disorder
Thrombocytopenia, Impaired epinephrine-induced platelet aggregation OMIM:601709
Intellectual Disability-Brachydactyly-Pierre Robin Syndrome
Short palpebral fissure, Microphthalmia, Telecanthus, Small nail, Corneal opacity, Synophrys, Cle... ORPHA:364577
Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige
Multiple muscular ventricular septal defects, Pulmonic stenosis, Eosinophilic infiltration of the... OMIM:615508
X-Linked Intellectual Disability-Hypogonadism-Ichthyosis-Obesity-Short Stature Syndrome
Aplasia/Hypoplasia of the testes, Telecanthus, Eczematoid dermatitis, Obesity, Cryptorchidism ORPHA:3055
Multifocal Atrial Tachycardia
Atrial flutter, Tachycardia, Atrial fibrillation, Effort-induced polymorphic ventricular tachycar... ORPHA:3282
Sézary Syndrome
Ectropion, Nail dystrophy, Hepatomegaly, Splenomegaly, Erythroderma, Pruritus, Alopecia ORPHA:3162
Coronary Arterial Fistula
Aortic valve stenosis, Abnormal heart morphology, Cardiomegaly, Bicuspid aortic valve, Right vent... ORPHA:2041
Cardiomyopathy, Familial Restrictive, 6
Pulmonary insufficiency, Hydrops fetalis, Restrictive cardiomyopathy, Ascites, Tricuspid regurgit... OMIM:619433
Vacterl Association, X-Linked, With Or Without Hydrocephalus
Neonatal death, Pulmonary hypoplasia OMIM:314390
Meckel Syndrome 14
Pneumothorax, Cyanosis, Pulmonary hypoplasia, Cardiorespiratory arrest OMIM:619879
Renal Agenesis, Bilateral
Pulmonary hypoplasia, Epicanthus ORPHA:1848
Myopathy, Myofibrillar, 2
Cataract, Dysphagia, Hypertrophic cardiomyopathy OMIM:608810
Tangier Disease
Ectropion, Nail dystrophy, Corneal opacity, Coronary artery stenosis, Hepatosplenomegaly, Left ve... ORPHA:31150
Faciocardiorenal Syndrome
Tricuspid valve prolapse, Endocardial fibroelastosis ORPHA:1973
Developmental And Epileptic Encephalopathy 30
Respiratory distress, Death in infancy OMIM:616341
Netherton Syndrome
Trichorrhexis nodosa, Abnormal hair morphology, Skin rash, Sparse scalp hair, Eczematoid dermatit... ORPHA:634
Neuroocular Syndrome
Microphthalmia, Small nail, Highly arched eyebrow, Stellate iris, Umbilical hernia, Nasolacrimal ... OMIM:619539
Deafness, Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome
Optic atrophy, Hypoplastic fingernail, High palate, Ptosis, Cleft palate, Low anterior hairline, ... OMIM:220500
Biotinidase Deficiency
Optic atrophy, Hepatomegaly, Seborrheic dermatitis, Skin rash, Splenomegaly, Conjunctivitis, Recu... OMIM:253260
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome
Microphthalmia, Downslanted palpebral fissures, Epicanthus, Hernia, Ventricular septal defect OMIM:602501
Gaucher Disease, Perinatal Lethal
Purpura, Respiratory distress, Petechiae, Apnea, Neonatal death, Pulmonary hypoplasia OMIM:608013
Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta
Anomalous origin of left pulmonary artery from ascending aorta, Exertional dyspnea, Anomalous ori... ORPHA:99050
Deafness-Lymphedema-Leukemia Syndrome
Respiratory failure, Recurrent respiratory infections, Bruising susceptibility ORPHA:3226
Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome
Cataract, Cryptorchidism, Ventricular septal defect, Hypoplastic left heart ORPHA:2772
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome
Abnormal lung lobation, Respiratory insufficiency, Death in infancy, Anomalous pulmonary venous r... ORPHA:1120
Infantile Refsum Disease
Optic atrophy, Hepatomegaly, Cardiomyopathy, Arrhythmia, Cataract, Rod-cone dystrophy ORPHA:772
Cantu Syndrome
Bicuspid aortic valve, Curly eyelashes, Congenital, generalized hypertrichosis, Long eyelashes, P... OMIM:239850
Inflammatory Skin And Bowel Disease, Neonatal, 1
Onychogryposis, Duodenitis, Blepharitis, Pustule, Erythroderma, Paronychia, Villous atrophy OMIM:614328
Acro-Renal-Ocular Syndrome
Short palpebral fissure, Microphthalmia, Aganglionic megacolon, Optic disc hypoplasia, Microcorne... ORPHA:959
Thrombocytopenia With Beta-Thalassemia, X-Linked
Reticulocytosis, Reduced platelet alpha granules, Increased mean platelet volume, Thrombocytopeni... OMIM:314050
Waardenburg Syndrome Type 1
Premature graying of hair, Hypopigmented skin patches, Aganglionic megacolon, Hypopigmentation of... ORPHA:894
Mucolipidosis Iii Gamma
Aortic regurgitation, Claw hand deformity, Shoulder contracture, Finger joint contracture, Aortic... OMIM:252605
Hypodontia-Dysplasia Of Nails Syndrome
Hypoplastic fingernail, Abnormality of the nail, Abnormal fingernail morphology, Thin toenail, Fr... ORPHA:2228
Mitochondrial Short-Chain Enoyl-Coa Hydratase 1 Deficiency
Respiratory failure, Apnea, Death in infancy OMIM:616277
Micro Syndrome
Optic atrophy, Microphthalmia, Microcornea, High palate, Retinal coloboma, Abnormality of retinal... ORPHA:2510
Galactosialidosis
Visceromegaly, Conjunctival telangiectasia, Hepatosplenomegaly, Cherry red spot of the macula, Op... OMIM:256540
Ichthyosis, Congenital, Autosomal Recessive 1
Nail dysplasia, Ectropion, Nail dystrophy, Flexion contracture, Sparse hair, Erythroderma, Alopecia OMIM:242300
Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1A
Respiratory insufficiency, Respiratory failure ORPHA:266
Platyspondylic Dysplasia, Torrance Type
Pulmonary hypoplasia ORPHA:85166
Riddle Syndrome
Abnormal pulmonary interstitial morphology, Bronchitis, Neonatal asphyxia, Conjunctival telangiec... ORPHA:420741
Cayler Cardiofacial Syndrome
Ventricular septal defect, Tetralogy of Fallot OMIM:125520
Fixed Subaortic Stenosis
Paroxysmal atrial fibrillation, Congestive heart failure, Atrioventricular canal defect, Cardiome... ORPHA:3092
Atrial Standstill
Bradycardia, Cardiomyopathy, Abnormal heart morphology, Mobitz I atrioventricular block, Ventricu... ORPHA:1344
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1
Optic atrophy, Microphthalmia, Retinal dysplasia, Retinal detachment, Optic nerve hypoplasia, Col... OMIM:236670
Asplenia, Isolated Congenital
Howell-Jolly bodies, Thrombocytosis, Asplenia OMIM:271400
Microphthalmia, Syndromic 1
Joint contracture of the hand, Microphthalmia, Ciliary body coloboma, Aganglionic megacolon, Rect... OMIM:309800
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12
Microphthalmia, Abnormally large globe, Coloboma, Flexion contracture, Cataract, Retinal degenera... OMIM:615249
Bare Lymphocyte Syndrome, Type Ii
Villous atrophy, Cholangitis, Panhypogammaglobulinemia, Chronic mucocutaneous candidiasis, Viral ... OMIM:209920
Stickler Syndrome, Type V
Retinal detachment, Vitreoretinopathy, Cataract OMIM:614284
Fish-Eye Disease
Opacification of the corneal stroma OMIM:136120
Curry-Jones Syndrome
Microphthalmia, Intestinal malrotation, Generalized hirsutism, Optic disc coloboma, Iris coloboma ORPHA:1553
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency
Congestive heart failure, Nail dystrophy, Hepatomegaly, Cardiomyopathy, Lymphadenitis, Eczematoid... OMIM:615895
Coenzyme Q10 Deficiency, Primary, 7
Bradycardia, Hypertrophic cardiomyopathy, Dysphagia, Epicanthus, Ventricular septal defect, Hypop... OMIM:616276
Cardiomyopathy-Hypotonia-Lactic Acidosis Syndrome
Cyanosis, Respiratory distress ORPHA:91130
Scalp-Ear-Nipple Syndrome
Nail dysplasia, Palpebral edema, Hypertension, Bifid uvula, Sparse axillary hair, Sparse hair, Fi... OMIM:181270
Spondylometaphyseal Dysplasia With Corneal Dystrophy
Corneal opacity OMIM:618961
Chronic Hiccup
Malnutrition, Weight loss ORPHA:396
Anencephaly 2
Short palpebral fissure, Median cleft palate, Anophthalmia OMIM:619452
Congenital Heart Block
Cyanosis, Pleural effusion ORPHA:60041
Combined Oxidative Phosphorylation Deficiency 47
Hepatomegaly, Ptosis, Dysphagia, Cataract, Cryptorchidism OMIM:618958
Pontocerebellar Hypoplasia, Type 16
Optic atrophy, Ptosis, Dysphagia, Cataract OMIM:619527
Achondrogenesis
Aplasia/Hypoplasia of the lungs ORPHA:932
Sengers Syndrome
Cardiac arrest, Pulmonary arterial hypertension, Hypertrophic cardiomyopathy, Developmental catar... OMIM:212350
Yao Syndrome
Keratoconjunctivitis sicca, Arthritis, Skin rash, Ventricular hypertrophy, Pericarditis, Inflamma... OMIM:617321
Laurence-Moon Syndrome
Cataract, Cryptorchidism, Epicanthus, Iris coloboma ORPHA:2377
Cataract-Growth Hormone Deficiency-Sensory Neuropathy-Sensorineural Hearing Loss-Skeletal Dysplasia Syndrome
Decreased response to growth hormone stimulation test, Developmental cataract, Thick eyebrow, Cat... ORPHA:436174
Charge Syndrome
Microphthalmia, Highly arched eyebrow, Tracheoesophageal fistula, Dysphagia, Umbilical hernia, Ab... ORPHA:138
Nemaline Myopathy 8
Respiratory failure, Death in infancy OMIM:615348
Gm1-Gangliosidosis, Type Iii
Opacification of the corneal stroma, Splenomegaly, Hepatomegaly, Cherry red spot of the macula OMIM:230650
Congenital Myopathy 2C, Severe Infantile, Autosomal Dominant
Death in childhood, Respiratory distress, Chylothorax, Death in infancy, Respiratory failure OMIM:620278
Senior-Loken Syndrome
Cataract, Abnormality of retinal pigmentation, Hypertension, Retinal dystrophy ORPHA:3156
Costello Syndrome
Pyloric stenosis, Thin nail, High palate, Hypertrophic cardiomyopathy, Curly hair, Pulmonic steno... OMIM:218040
Rothmund-Thomson Syndrome, Type 2
Premature graying of hair, Microphthalmia, Nail dystrophy, Annular pancreas, Alopecia, Microcorne... OMIM:268400
3Mc Syndrome 3
Highly arched eyebrow, Corneal opacity, Ptosis, Cleft palate, Epicanthus inversus, Cryptorchidism... OMIM:248340
Stickler Syndrome, Type Iv
Astigmatism, Chorioretinal degeneration, Degenerative vitreoretinopathy, Rhegmatogenous retinal d... OMIM:614134
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes
Nail dysplasia, Anorexia, Nail dystrophy, Protein-losing enteropathy, Hypokalemia, Hypocalcemia, ... OMIM:175500
Split-Hand With Congenital Nystagmus, Fundal Changes, And Cataracts
Retinopathy, Cataract OMIM:183800
Waardenburg-Shah Syndrome
Premature graying of hair, Intestinal obstruction, Aganglionic megacolon, Hypopigmentation of hai... ORPHA:897
Ciliary Dyskinesia, Primary, 42
Pneumonia, Respiratory insufficiency, Nasal polyposis, Recurrent sinusitis, Bronchiectasis OMIM:618695
Czeizel-Losonci Syndrome
Upslanted palpebral fissure, Pulmonary hypoplasia ORPHA:2437
Mucopolysaccharidosis Type 6
Chronic otitis media, Abnormal heart valve morphology, Sinusitis, Splenomegaly, Opacification of ... ORPHA:583
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly
Pulmonary hypoplasia, Epicanthus, Aplasia/Hypoplasia of the eyebrow OMIM:614091
Knobloch Syndrome
Abnormal vitreous humor morphology, Dextrocardia, Abnormal hair morphology, Retinal detachment, M... ORPHA:1571
Microcornea, Rod-Cone Dystrophy, Cataract, And Posterior Staphyloma 1
Cataract, Microcornea, Rod-cone dystrophy OMIM:619082
Rhizomelic Chondrodysplasia Punctata
Cataract, Sparse body hair, Epicanthus, Alopecia ORPHA:177
Ciliary Dyskinesia, Primary, 30
Absent outer dynein arms, Respiratory insufficiency due to defective ciliary clearance, Respirato... OMIM:616037
Congenital Multicore Myopathy With External Ophthalmoplegia
Pneumonia, Respiratory failure, Recurrent respiratory infections, Ptosis ORPHA:98905
Bartsocas-Papas Syndrome 1
Ectropion, Microphthalmia, Small nail, Ablepharon, Cicatricial lagophthalmos, Ankyloblepharon, Ax... OMIM:263650
Mucopolysaccharidosis, Type Vi
Pulmonary insufficiency, Hepatomegaly, Inguinal hernia, Sinus tachycardia, Cardiomyopathy, Cornea... OMIM:253200
Nemaline Myopathy 9
High palate, Nemaline bodies, Arthrogryposis multiplex congenita, Cleft palate, Ventricular septa... OMIM:615731
Atelosteogenesis Type I
Pulmonary hypoplasia, Telecanthus ORPHA:1190
Supravalvular Aortic Stenosis
Pulmonic stenosis OMIM:185500
Frontonasal Dysplasia-Severe Microphthalmia-Severe Facial Clefting Syndrome
Microphthalmia, Pericallosal lipoma, Sparse eyelashes, Ptosis, Sparse eyebrow, Camptodactyly of f... ORPHA:306542
Microphthalmia With Limb Anomalies
Short palpebral fissure, Microphthalmia, Camptodactyly of 2nd-5th fingers, Anophthalmia, Abnormal... OMIM:206920
Cryohydrocytosis
Stomatocytosis, Splenomegaly, Hemolytic anemia, Reticulocytosis OMIM:185020
Craniofaciofrontodigital Syndrome
Gastrointestinal hemorrhage, Aortic valve stenosis, Lower eyelid edema, Cardiomegaly, Bicuspid ao... ORPHA:363705
Insulin Autoimmune Syndrome
Arthralgia/arthritis, Increased circulating antibody level, Weight loss ORPHA:411593
Intellectual Developmental Disorder, Autosomal Recessive 73
Downslanted palpebral fissures, Ventricular septal defect, Epicanthus OMIM:619717
Bernard-Soulier Syndrome
Giant platelets, Thrombocytopenia, Macrothrombocytopenia, Prolonged bleeding time, Impaired risto... OMIM:231200
Autosomal Recessive Hypohidrotic Ectodermal Dysplasia
Abnormal hair morphology, Abnormal fingernail morphology, Abnormal toenail morphology, Fine hair,... ORPHA:248
Mucopolysaccharidosis Type 4
Grayish enamel, Abnormal heart valve morphology, Abnormal dental enamel morphology, Corneal opaci... ORPHA:582
Sabinas Brittle Hair Syndrome
Nail dysplasia, Nail dystrophy, Brittle hair, Sparse hair, Dry hair OMIM:211390
Hypotrichosis 6
Brittle hair, Sparse eyelashes, Sparse eyebrow, Sparse hair, Pili torti OMIM:607903
Cerebellofaciodental Syndrome
Cryptorchidism, Sparse eyebrow, Mitral valve prolapse, Cataract, Fine hair, Ventricular septal de... OMIM:616202
Carpenter Syndrome 1
Optic atrophy, Transposition of the great arteries, Telecanthus, Microcornea, High palate, Campto... OMIM:201000
Pulmonary Arteriovenous Malformation
Cyanosis, Pleural empyema, Dyspnea, Hypoxemia, Pulmonary hemorrhage, Hemothorax, Telangiectasia ORPHA:2038
Marfanoid Habitus With Situs Inversus
Situs inversus totalis, Aortic regurgitation, Pulmonic stenosis, Mitral valve prolapse, Lens subl... OMIM:609008
Reticular Dysgenesis
Chronic otitis media, Diarrhea, Skin rash, Decreased circulating antibody level, Failure to thriv... ORPHA:33355
Dubowitz Syndrome
Short palpebral fissure, Microphthalmia, Telecanthus, Inguinal hernia, Gastroesophageal reflux, H... OMIM:223370
Boomerang Dysplasia
Aplasia/Hypoplasia of the lungs ORPHA:1263
Proton-Pump Inhibitor-Responsive Esophageal Eosinophilia
Dysphagia, Allergic rhinitis, Abdominal pain, Lactose intolerance, Atopic dermatitis, Eosinophili... ORPHA:411696
Srd5A3-Cdg
Optic atrophy, Decreased response to growth hormone stimulation test, Optic disc hypoplasia, Colo... ORPHA:324737
Double Outlet Right Ventricle
Tachypnea, Narrow palpebral fissure, Cyanosis, Pulmonary artery atresia ORPHA:3426
Sweet Syndrome
Increased circulating interleukin 6 concentration, Panniculitis, Elevated circulating C-reactive ... ORPHA:3243
Pelvis-Shoulder Dysplasia
Opacification of the corneal stroma, Microphthalmia, Optic disc coloboma, Iris coloboma OMIM:169550
Wolfram Syndrome 1
Optic atrophy, Cardiomyopathy, Ptosis, Dysphagia, Cataract, Testicular atrophy, Pigmentary retino... OMIM:222300
Moyamoya Disease 4 With Short Stature, Hypergonadotropic Hypogonadism, And Facial Dysmorphism
Premature graying of hair, Decreased response to growth hormone stimulation test, Abnormal left v... OMIM:300845
Mycophenolate Mofetil Embryopathy
Congenital diaphragmatic hernia, Microphthalmia, Tracheoesophageal fistula, Chorioretinal colobom... ORPHA:268249
Microphthalmia, Lenz Type
Microphthalmia, Microcornea, Camptodactyly of finger, Ankyloblepharon, Chorioretinal coloboma, Op... ORPHA:568
Stromme Syndrome
Microphthalmia, Duodenal atresia, Optic nerve hypoplasia, Microcornea, Intestinal malrotation, Cl... OMIM:243605
Congenital Aortic Valve Stenosis
Abnormal T-wave, Abnormal left ventricular function, Reduced left ventricular ejection fraction, ... ORPHA:3093
Lessel-Kreienkamp Syndrome
Clinodactyly of the 5th finger, Patent foramen ovale, Pulmonic stenosis, Epicanthus, Bicuspid aor... OMIM:619149
Double Outlet Left Ventricle
Pulmonary valve atresia, Double outlet left ventricle, Tricuspid atresia, Bicuspid pulmonary valv... ORPHA:3427
1Q21.1 Microdeletion Syndrome
Microphthalmia, Inguinal hernia, Abnormal cardiac septum morphology, High palate, Ankyloglossia, ... ORPHA:250989
Hypotrichosis Simplex Of The Scalp
Slow-growing scalp hair, Alopecia of scalp, Increased circulating IgE level, Sparse scalp hair, A... ORPHA:90368
Acro-Renal-Mandibular Syndrome
Abnormal lung lobation, Downslanted palpebral fissures, Pulmonary hypoplasia ORPHA:958
Congenital Gerbode Defect
Congestive heart failure, Perimembranous ventricular septal defect, Abnormal tricuspid valve leaf... ORPHA:99095
Weill-Marchesani Syndrome 1
Narrow palate, Microspherophakia, Shallow orbits, Pulmonic stenosis, Aortic valve stenosis, Ectop... OMIM:277600
Mend Syndrome
Microphthalmia, Telecanthus, High palate, Aortic valve stenosis, Abnormal heart morphology, Cleft... ORPHA:401973
Radiation Proctitis
Intestinal obstruction, Rectal fistula, Abnormal gastrointestinal vascular morphology, Arteritis,... ORPHA:70475
Mmep Syndrome
Microphthalmia, Ventricular septal defect, Cryptorchidism ORPHA:3434
Ichthyosis, X-Linked
Testicular neoplasm, Opacification of the corneal stroma, Cryptorchidism OMIM:308100
Radio-Renal Syndrome
Respiratory distress, Chylothorax, Pleural effusion, Dyspnea, Respiratory failure ORPHA:3015
Ifap Syndrome 2
Nail dystrophy, Atrichia, Angular cheilitis, Posterior blepharitis, Keratitis, Sparse hair, Catar... OMIM:619016
Cataracts, Hearing Impairment, Nephrotic Syndrome, And Enterocolitis 1
Cataract, Enterocolitis, Microphthalmia, Decreased pineal volume OMIM:301108
Weiss-Kruszka Syndrome
Clinodactyly of the 5th finger, Proximal placement of thumb, Highly arched eyebrow, Horizontal cr... OMIM:618619
Gyrate Atrophy Of Choroid And Retina
Chorioretinal hyperpigmentation, Chorioretinal degeneration, Abnormal hair morphology, Chorioreti... ORPHA:414
Lacrimoauriculodentodigital Syndrome
Recurrent corneal erosions, Nail dysplasia, Corneal neovascularization, Hypoplasia of the lacrima... ORPHA:2363
Hypogonadism-Mitral Valve Prolapse-Intellectual Disability Syndrome
Abnormal hair quantity, High palate, Abnormal testis morphology, Low posterior hairline, Downslan... ORPHA:2233
Oculocerebrofacial Syndrome, Kaufman Type
Short palpebral fissure, Telecanthus, Respiratory distress, Dyspnea, Absent eyebrow, Epicanthus, ... ORPHA:2707
Pontocerebellar Hypoplasia, Type 4
Respiratory failure, Death in infancy OMIM:225753
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 1
Premature graying of hair, Reticular pattern on pulmonary HRCT, Dyspnea, Usual interstitial pneum... OMIM:614742
Warburg Micro Syndrome 2
Optic atrophy, Microphthalmia, Microcornea, Developmental cataract, Low anterior hairline, Flexio... OMIM:614225
Mucopolysaccharidosis Type 2
Hypertension, Cardiomyopathy, Corneal opacity, Retinopathy, Abnormal foveal morphology, Abnormal ... ORPHA:580
Quinquaud Folliculitis Decalvans
Abnormal hair morphology, Scarring alopecia of scalp, Patchy alopecia, Pustule, Recurrent skin in... ORPHA:346
Microcephalic Primordial Dwarfism, Toriello Type
Cataract, Enamel hypoplasia, Downslanted palpebral fissures ORPHA:2643
Autosomal Recessive Stickler Syndrome
Astigmatism, Retinal detachment, Vitreoretinopathy, Cleft palate, Cataract ORPHA:250984
Duane-Radial Ray Syndrome
Microphthalmia, Aganglionic megacolon, Anal stenosis, Optic disc hypoplasia, Anal atresia, Retina... OMIM:607323
Amyotrophic Lateral Sclerosis 28
Respiratory failure OMIM:620452
Bjornstad Syndrome
Hair shafts flattened at irregular intervals and twisted through 180 degrees about their axes, Dr... OMIM:262000
Feingold Syndrome Type 2
Ventricular septal defect, Jejunal atresia ORPHA:391646
Intellectual Developmental Disorder, X-Linked, Syndromic, Snijders Blok Type
Dysplastic pulmonary valve OMIM:300958
Hemolytic Anemia Due To Glutathione Reductase Deficiency
Cataract OMIM:618660
Lamellar Ichthyosis
Chronic otitis media, Ectropion, Abnormality of the nail, Sparse hair, Aplasia/Hypoplasia of the ... ORPHA:313
Autoinflammatory Syndrome, Familial, Behcet-Like 1
Skin rash, Anterior uveitis, Ileal ulcer, Colitis OMIM:616744
Tracheobronchopathia Osteochondroplastica
Exertional dyspnea, Atelectasis, Respiratory insufficiency, Bronchitis, Recurrent pneumonia, Pneu... ORPHA:3348
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Intermediate Form
Nail dysplasia, Corneal erosion, Anal fissure, Gastroesophageal reflux, Esophageal stenosis, Abno... ORPHA:89842
Cockayne Syndrome Type 3
Premature graying of hair, Microphthalmia, Retinal atrophy, Cardiomyopathy, Splenomegaly, Retinal... ORPHA:90324
Neurodevelopmental Disorder With Dysmorphic Facies, Sleep Disturbance, And Brain Abnormalities
Dysplastic pulmonary valve, Almond-shaped palpebral fissure, Sparse lateral eyebrow, Epiblepharon... OMIM:619103
Chronic Nonbacterial Osteomyelitis/Chronic Recurrent Multifocal Osteomyelitis
Elevated circulating C-reactive protein concentration, Arthritis, Skin rash, Inflammation of the ... ORPHA:324964
Usher Syndrome Type 3
Cataract, Iris hypopigmentation, Astigmatism ORPHA:231183
Ectopia Lentis 1, Isolated, Autosomal Dominant
Retinal detachment, Microspherophakia, High palate, Ectopia lentis, Shallow anterior chamber, Mit... OMIM:129600
Leber Congenital Amaurosis 16
Cataract, Optic disc pallor OMIM:614186
Inflammatory Skin And Bowel Disease, Neonatal, 2
Increased circulating IgE level, Long eyelashes, Vomiting, Failure to thrive, Pustule, Recurrent ... OMIM:616069
Rh-Null, Amorph Type
Stomatocytosis, Anisocytosis, Hemolytic anemia, Reticulocytosis OMIM:617970
Ectodermal Dysplasia 10A, Hypohidrotic/Hair/Nail Type, Autosomal Dominant
Ridged nail, Slow-growing hair, Sparse eyelashes, Sparse eyebrow, Sparse hair, Fine hair OMIM:129490
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies
Chronic otitis media, Small pituitary gland, Thyroid hypoplasia, Dysphagia, Decreased response to... OMIM:619503
Blau Syndrome
Iritis, Flexion contracture of toe, Cystoid macular edema, Band keratopathy, Hypertension, Erythe... OMIM:186580
Spondylodysplastic Ehlers-Danlos Syndrome
Optic nerve hypoplasia, Corneal opacity, Aortic valve stenosis, Pulmonic stenosis, Inguinal herni... ORPHA:536471
Congenital Tracheal Stenosis
Abnormal lung lobation, Anomalous origin of left pulmonary artery from ascending aorta, Respirato... ORPHA:141127
Mental Retardation, Keratoconus, Febrile Seizures, And Sinoatrial Block
Keratoconus, Sinoatrial block, Abnormal electrophysiology of sinoatrial node origin OMIM:609438
Congenital Labioscrotal Agenesis-Cerebellar Malformation-Corneal Dystrophy-Facial Dysmorphism Syndrome
Broad eyebrow, Gastroesophageal reflux, Optic nerve hypoplasia, Corneal dystrophy, Hirsutism, Cor... ORPHA:495875
Donnai-Barrow Syndrome
Congenital diaphragmatic hernia, Iris coloboma, Intestinal malrotation, Downslanted palpebral fis... ORPHA:2143
Amoebiasis Due To Entamoeba Histolytica
Intestinal obstruction, Acute colitis, Abdominal pain, Diarrhea, Bloody diarrhea, Weight loss, Ga... ORPHA:67
Mitochondrial Dna Depletion Syndrome 8A (Encephalomyopathic Type With Renal Tubulopathy)
Diarrhea, Cachexia, Vomiting, Failure to thrive, Feeding difficulties, Weight loss OMIM:612075
Dyskeratosis Congenita, Autosomal Recessive 5
Esophageal stenosis, Nail dystrophy, Decreased circulating antibody level, Colitis OMIM:615190
Neonatal Adrenoleukodystrophy
Optic atrophy, Ptosis, Abnormality of retinal pigmentation, Cataract ORPHA:44
Acalvaria
Abnormal lung lobation ORPHA:945
Thrombocytopenia 11 With Multiple Congenital Anomalies And Dysmorphic Facies
Short palpebral fissure, Astigmatism, Recurrent otitis media, Inguinal hernia, Ventricular hypert... OMIM:620654
Giant Axonal Neuropathy 1, Autosomal Recessive
Vomiting, Curly hair OMIM:256850
Immunodeficiency 27A
Anorexia, Increased circulating IgG level, Diarrhea, Salmonella osteomyelitis, Increased circulat... OMIM:209950
Acrofrontofacionasal Dysostosis 1
Optic atrophy, S-shaped palpebral fissures, Microphthalmia, Small nail, Long eyebrows, Iris atrop... OMIM:201180
Microcephaly-Polymicrogyria-Corpus Callosum Agenesis Syndrome
Respiratory distress ORPHA:171703
Isolated Aniridia
Cataract, Aplasia/Hypoplasia of the macula, Peters anomaly, Aniridia ORPHA:250923
Anemia, Congenital Dyserythropoietic, Type Ii
Anemia of inadequate production, Splenomegaly, Reticulocytosis OMIM:224100
Hyperphosphatasia With Impaired Intellectual Development Syndrome 6
Abdominal pain, Necrotizing enterocolitis, High palate, Elevated circulating creatine kinase conc... OMIM:616809
Spondyloepiphyseal Dysplasia With Atlantoaxial Instability
Respiratory failure OMIM:600561
Immunodeficiency 89 And Autoimmunity
Reduced circulating interleukin 23 concentration, Reduced circulating interleukin 22 concentratio... OMIM:619632
Severe Combined Immunodeficiency, X-Linked
Chronic oral candidiasis, Decreased circulating IgE, Chronic diarrhea, Skin rash, Hypoplasia of t... OMIM:300400
Neurodevelopmental Disorder With Hypotonia, Facial Dysmorphism, And Brain Abnormalities
Telecanthus, Respiratory distress, Thick eyebrow, Epicanthus, Recurrent respiratory infections, U... OMIM:619383
Mosaic Trisomy 1
Congenital diaphragmatic hernia, Microphthalmia, Congenital bilateral ptosis, Small nail, Hypopla... ORPHA:1692
14Q24.1Q24.3 Microdeletion Syndrome
Truncus arteriosus, Pulmonary artery atresia, Synophrys, Intestinal malrotation, Downslanted palp... ORPHA:401935
Dislocation Of The Hip-Dysmorphism Syndrome
Abnormal tricuspid valve morphology, Epicanthus, Abnormal cardiac septum morphology ORPHA:2412
Chromosome 15Q14 Deletion Syndrome
Highly arched eyebrow, Recurrent viral upper respiratory tract infections, Cleft palate, Atrial s... OMIM:616898
Fanconi Anemia, Complementation Group I
Microphthalmia, Astigmatism, Decreased response to growth hormone stimulation test, Optic nerve h... OMIM:609053
Immunodeficiency, Developmental Delay, And Hypohomocysteinemia
Decreased circulating antibody level, Failure to thrive, Feeding difficulties, Bicuspid aortic va... OMIM:617744
Fibular Hemimelia
Abnormal anterior chamber morphology, Abnormal heart morphology, Anophthalmia ORPHA:93323
Bathing Suit Ichthyosis
Ectropion, Nail dystrophy, Sparse hair, Erythroderma, Multiple joint contractures, Alopecia ORPHA:100976
Aniridia-Absent Patella Syndrome
Aniridia, Inguinal hernia, Ptosis, Cataract, Cryptorchidism ORPHA:1069
Triploidy
Hepatomegaly, Abnormal cardiac septum morphology, Macroglossia, Omphalocele, Aplasia/Hypoplasia a... ORPHA:3376
Carvajal Syndrome
Woolly hair ORPHA:65282
Trichothiodystrophy 6, Nonphotosensitive
Slow-growing hair, Microcornea, Tiger tail banding, Brittle hair OMIM:616943
Hallermann-Streiff Syndrome
Congestive heart failure, Microphthalmia, High, narrow palate, Telecanthus, Abnormality of hair t... ORPHA:2108
Bifid Nose With Or Without Anorectal And Renal Anomalies
Thick eyebrow, Ebstein anomaly of the tricuspid valve OMIM:608980
Severe Intellectual Disability-Epilepsy-Anal Anomalies-Distal Phalangeal Hypoplasia
Highly arched eyebrow, Ectopic anus, Cleft palate, Hypoplastic toenails, Ventricular septal defect ORPHA:94066
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency
Bilateral ptosis, Microphthalmia, Highly arched eyebrow, Abnormal gastrointestinal tract morpholo... ORPHA:404440
Bickerstaff Brainstem Encephalitis
Respiratory failure requiring assisted ventilation, Dyspnea, Ptosis, Respiratory tract infection,... ORPHA:79138
Mucopolysaccharidosis Type 2, Severe Form
Hypertension, Cardiomyopathy, Corneal opacity, Retinopathy, Abnormal foveal morphology, Abnormal ... ORPHA:217085
Eales Disease
Retinal thinning, Ischemic stroke, Peripheral retinal neovascularization, Cystoid macular edema, ... ORPHA:40923
Piebald Trait-Neurologic Defects Syndrome
Hypopigmented skin patches, Irregular hyperpigmentation, Aganglionic megacolon, Hypopigmentation ... ORPHA:2885
Partial Atrioventricular Septal Defect
Abnormal tricuspid valve morphology, Bacterial endocarditis, Coronary sinus enlargement, Partial ... ORPHA:1330
Nanophthalmos 1
Bilateral microphthalmos OMIM:600165
Neurodevelopmental Disorder With Spasticity, Cataracts, And Cerebellar Hypoplasia
Highly arched eyebrow, Synophrys, Long eyelashes, Cataract, Frontal upsweep of hair OMIM:619286
Dyrk1A-Related Intellectual Disability Syndrome
Breast hypoplasia, Astigmatism, Aortic regurgitation, Multiple joint contractures, Gastroesophage... ORPHA:464306
Capillary Malformation-Arteriovenous Malformation
Congestive heart failure, Abnormal bleeding, Chylothorax, Lymphedema, Cerebral ischemia, Abnormal... ORPHA:137667
Microphthalmia, Isolated 7
Microphthalmia OMIM:613704
Peroxisome Biogenesis Disorder 9B
Cataract, Cardiomyopathy, Rod-cone dystrophy OMIM:614879
Nanophthalmos 2
Microphthalmia OMIM:609549
Absence Of The Pulmonary Artery
Pulmonary edema, Dyspnea, Orthopnea, Recurrent pneumonia, Pulmonary hypoplasia, Bronchiectasis, R... ORPHA:980
Achondrogenesis Type 1B
Aplasia/Hypoplasia of the lungs ORPHA:93298
Relapsing Polychondritis
Myocarditis, Abnormal endocardium morphology, Large vessel vasculitis, Abnormal aortic valve morp... ORPHA:728
Multicentric Reticulohistiocytosis
Cachexia, Arthritis ORPHA:139436
Inflammatory Pseudotumor Of The Liver
Abdominal distention, Increased hepatitis B virus antibody level, Abdominal pain, Vomiting, Nause... ORPHA:90003
Multiple Pterygium Syndrome, Escobar Variant
Bilateral ptosis, Axillary pterygium, Popliteal pterygium, Pterygium, Neck pterygia, Ptosis, Down... OMIM:265000
Exfoliation Syndrome
Mydriasis, Phakodonesis, Pseudoexfoliation, Iris hypoperfusion, Anisocoria, Pigment deposition in... OMIM:177650
Kindler Epidermolysis Bullosa
Ectropion, Cheilitis, Periodontitis, Abnormal dental enamel morphology, Corneal opacity, Abnormal... ORPHA:2908
Pyruvate Dehydrogenase E1-Alpha Deficiency
Respiratory failure, Ptosis, Apneic episodes precipitated by illness, fatigue, stress OMIM:312170
Metatropic Dysplasia
Aplasia/Hypoplasia of the lungs ORPHA:2635
Lethal Congenital Contracture Syndrome 10
Downslanted palpebral fissures, Pulmonary hypoplasia OMIM:617022
Alpha-Heavy Chain Disease
Abnormal small intestine morphology, Hepatomegaly, Splenomegaly, Alopecia ORPHA:100025
Thanatophoric Dysplasia, Glasgow Variant
Cataract, Hepatosplenomegaly OMIM:273680
Synaptic Congenital Myasthenic Syndromes
Hypoventilation, Bilateral ptosis, Exertional dyspnea, Recurrent lower respiratory tract infectio... ORPHA:98915
Moebius Syndrome
Breast aplasia, Corneal opacity, High palate, Ptosis, Blepharitis, Cleft palate, Dysphagia, Epica... ORPHA:570
Brachyolmia Type 1, Toledo Type
Opacification of the corneal stroma OMIM:271630
Autoimmune Polyendocrinopathy Type 1
Hypoparathyroidism, Chronic mucocutaneous candidiasis, Adrenal hyperplasia, Abnormal fingernail m... ORPHA:3453
Nanophthalmos
Microphthalmia, Abnormality of retinal pigmentation, Abnormal choroid morphology ORPHA:35612
Omenn Syndrome
Hepatomegaly, Thyroiditis, Erythroderma, Splenomegaly, Aplasia/Hypoplasia of the eyebrow, Pneumon... ORPHA:39041
Papillorenal Syndrome
Microphthalmia, Retinal detachment, Macular degeneration, Chorioretinal atrophy, Hypertension, Le... OMIM:120330
Zimmermann-Laband Syndrome
Hepatomegaly, Hypoplastic fingernail, Telecanthus, Generalized hypertrichosis, High palate, Absen... ORPHA:3473
Codas Syndrome
Abnormal dental enamel morphology, Ptosis, Epicanthus, Cataract, Ventricular septal defect ORPHA:1458
Chilblain Lupus
Increased circulating antibody level, Malar rash, Skin rash, Discoid lupus rash, Inflammatory abn... ORPHA:90280
Retinitis Pigmentosa 2
Chorioretinal degeneration, Fundus atrophy, Bull's eye maculopathy, Cataract, Rod-cone dystrophy,... OMIM:312600
Adult-Onset Autosomal Recessive Cerebellar Ataxia
Cataract, Macular degeneration, Ptosis, Tortuosity of conjunctival vessels ORPHA:284289
Hypocomplementemic Urticarial Vasculitis
Small vessel vasculitis, Hepatomegaly, Inflammatory abnormality of the eye, Abnormal heart valve ... ORPHA:36412
Mucopolysaccharidosis Type 2, Attenuated Form
Hypertension, Cardiomyopathy, Corneal opacity, Retinopathy, Abnormal foveal morphology, Abnormal ... ORPHA:217093
Classic Glucose Transporter Type 1 Deficiency Syndrome
Cyanosis, Central apnea ORPHA:71277
Emanuel Syndrome
Congenital diaphragmatic hernia, Pulmonic stenosis, Aortic valve stenosis, Bifid uvula, Dysphagia... ORPHA:96170
Oculotrichoanal Syndrome
Microphthalmia, Anal stenosis, Upper eyelid coloboma, Anophthalmia, Cryptophthalmos, Abnormal hai... ORPHA:2717
Laryngotracheal Angioma
Apnea, Cyanosis, Intercostal retractions, Respiratory distress ORPHA:137935
Glutamate-Cysteine Ligase Deficiency
Hepatosplenomegaly, Hemolytic anemia, Reticulocytosis ORPHA:33574
Short Stature-Micrognathia Syndrome
Astigmatism, Gastroesophageal reflux, High palate, Cryptorchidism, Downslanted palpebral fissures... OMIM:617164
Aspergillosis
Abnormal esophagus morphology, Bronchiectasis, Sinusitis, Keratitis, Osteomyelitis, Intracranial ... ORPHA:1163
Congenital Disorder Of Glycosylation, Type Ii
Hepatomegaly, Gastroesophageal reflux, High palate, Epicanthus, Cataract, Upslanted palpebral fis... OMIM:607906
Tetraploidy
Aplasia/Hypoplasia of the lungs ORPHA:3305
Cerebellar-Facial-Dental Syndrome
S-shaped palpebral fissures, Inguinal hernia, Foot joint contracture, Cryptorchidism, Sparse eyeb... ORPHA:444072
Microphthalmia/Coloboma 6
Hypoplasia of the fovea, Bilateral microphthalmos, Optic disc hypoplasia, Coloboma OMIM:613703
Developmental Delay With Short Stature, Dysmorphic Facial Features, And Sparse Hair 1
Death in childhood, Sparse scalp hair, Death in infancy, Sparse eyelashes, Sparse eyebrow, Downsl... OMIM:616901
Proximal Spinal Muscular Atrophy
Hypoventilation, Respiratory insufficiency due to muscle weakness, Recurrent aspiration pneumonia... ORPHA:70
Stuve-Wiedemann Syndrome 2
Stillbirth, Neonatal death, Death in adolescence, Respiratory distress OMIM:619751
Legius Syndrome
Ptosis, Downslanted palpebral fissures, Epicanthus, Supravalvar pulmonary stenosis OMIM:611431
Ichthyosis With Confetti
Ectropion, Hypoplastic nipples, Hypertrichosis, Erythroderma, Pruritus OMIM:609165
Congenital Myopathy 22B, Severe Fetal
Respiratory distress, Pleural effusion, Synophrys, Downslanted palpebral fissures, Pulmonary hypo... OMIM:620369
Zttk Syndrome
Optic atrophy, Aortic regurgitation, Broad eyebrow, Intestinal atresia, High palate, Curly hair, ... OMIM:617140
Mietens Syndrome
Cataract, Microcornea, Sclerocornea, Corneal opacity ORPHA:2557
Lymphedema-Distichiasis Syndrome
Ectropion, Corneal erosion, Distichiasis, Ptosis, Arrhythmia, Cleft palate, Conjunctivitis, Catar... ORPHA:33001
Aniridia 2
Optic atrophy, Aniridia, Cataract, Lens subluxation, Iris coloboma OMIM:617141
Central Diabetes Insipidus
Anorexia, Diarrhea, Failure to thrive, Hyponatremia, Weight loss, Nausea and vomiting ORPHA:178029
Immunodeficiency 76
Chronic diarrhea, Recurrent pneumonia, Colitis OMIM:619164
Branchiooculofacial Syndrome
Premature graying of hair, Microphthalmia, Upslanted palpebral fissure, Low posterior hairline, W... OMIM:113620
Sanjad-Sakati Syndrome
Intestinal obstruction, Astigmatism, Hypoparathyroidism, Congenital hypoparathyroidism, Abnormal ... ORPHA:2323
Arthrogryposis, Perthes Disease, And Upward Gaze Palsy
Pulmonic stenosis, Atrial septal defect, Ventricular septal defect OMIM:614262
Systemic Sclerosis
Irregular hyperpigmentation, Nail bed telangiectasia, Pericarditis, Dysphagia, Intestinal bleedin... ORPHA:90291
Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome
Respiratory failure, Respiratory insufficiency due to muscle weakness, Ptosis, Dyspnea ORPHA:352447
Pulmonary Fibrosis-Hepatic Hyperplasia-Bone Marrow Hypoplasia Syndrome
Dyspnea, Abnormal pleura morphology, Pulmonary fibrosis ORPHA:210136
Achondrogenesis Type 1A
Aplasia/Hypoplasia of the lungs ORPHA:93299
Lissencephaly Type 3-Metacarpal Bone Dysplasia Syndrome
Pulmonary hypoplasia ORPHA:86822
Primary Immunodeficiency Syndrome Due To Lamtor2 Deficiency
Partial albinism, Hypopigmentation of hair, Recurrent bronchopulmonary infections ORPHA:90023
Meckel Diverticulum
Meckel diverticulum OMIM:155140
Blood Group, Cromer System
Protein-losing enteropathy OMIM:613793
Achondroplasia
Respiratory distress, Pulmonary hypoplasia, Death in infancy OMIM:100800
Autosomal Recessive Palmoplantar Keratoderma And Congenital Alopecia
Cataract, Atypical scarring of skin, Nail dystrophy, Alopecia totalis ORPHA:1366
Atrial Septal Defect 1
Atrial septal dilatation, Aortic valve stenosis, Tetralogy of Fallot with pulmonary atresia, Secu... OMIM:108800
Cataracts, Hearing Impairment, Nephrotic Syndrome, And Enterocolitis 2
Cataract, Enterocolitis OMIM:620425
Diaphragmatic Hernia 5, X-Linked
Neonatal death OMIM:306950
Tetraamelia-Multiple Malformations Syndrome
Optic atrophy, Microphthalmia, Microcornea, Septo-optic dysplasia, Anal atresia, Cataract, Crypto... ORPHA:3301
Von Willebrand Disease, Type 3
Impaired platelet aggregation, Prolonged bleeding time, Thrombocytopenia OMIM:277480
Joubert Syndrome 14
Optic atrophy, Microphthalmia, Highly arched eyebrow, Coloboma, Hypertension, Ptosis, Downslanted... OMIM:614424
X-Linked Agammaglobulinemia
Chronic otitis media, Hypocalcemia, Chronic diarrhea, Skin rash, Arthritis, Glossoptosis, Sinusit... ORPHA:47
Alagille Syndrome 2
Hypertension, Pulmonic stenosis, Posterior embryotoxon, Tetralogy of Fallot, Atrial septal defect OMIM:610205
Roifman Syndrome
Hepatomegaly, Recurrent otitis media, Noncompaction cardiomyopathy, Ventricular septal defect, Ec... OMIM:616651
Ectodermal Dysplasia-Syndactyly Syndrome 2
Cardiomegaly, Sparse hair OMIM:613576
Neurodevelopmental Disorder With Feeding Difficulties, Thin Corpus Callosum, And Foot Deformity
Aortic valve stenosis, Bicuspid aortic valve OMIM:615599
Chromosome 13Q14 Deletion Syndrome
Microphthalmia, Inguinal hernia, Retinoblastoma, Patent foramen ovale, High palate, Cryptorchidis... OMIM:613884
Jaberi-Elahi Syndrome
Optic atrophy, Brittle hair, Sparse eyelashes, Sparse eyebrow, Sparse hair, Cataract, Fine hair OMIM:617988
Nephronophthisis 16
Pulmonic stenosis, Situs inversus totalis, Aortic valve stenosis, Hypertrophic cardiomyopathy OMIM:615382
Peroxisome Biogenesis Disorder 1A (Zellweger)
Death in childhood, Prolonged neonatal jaundice, Pulmonary hypoplasia, Epicanthus, Neonatal respi... OMIM:214100
Progeroid Short Stature With Pigmented Nevi
Cataract, Aortic valve stenosis, Lack of facial subcutaneous fat, Esophageal ulceration, Bicuspid... OMIM:176690
Bleeding Disorder, Platelet-Type, 12
Impaired platelet aggregation OMIM:605735
Oculoectodermal Syndrome
Astigmatism, Chorioretinal atrophy, Microcornea, Transient ischemic attack, Hypertrophic cardiomy... OMIM:600268
Mowat-Wilson Syndrome
Microphthalmia, Pulmonic stenosis, Abnormal heart morphology, Abnormal enteric ganglion morpholog... OMIM:235730
Congenitally Corrected Transposition Of The Great Arteries
Mesocardia, Pulmonic stenosis, Discordant atrioventricular connection, Abnormal heart morphology,... ORPHA:216694
Amyloidosis, Finnish Type
Orthostatic hypotension, Decreased heart rate variability, Cardiac amyloidosis, Cardiomyopathy, O... OMIM:105120
Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies
Microphthalmia, High, narrow palate, Recurrent otitis media, Gastroesophageal reflux, Patent fora... OMIM:618494
Multicentric Osteolysis, Nodulosis, And Arthropathy
Ankle flexion contracture, Hirsutism, Corneal opacity, Wrist flexion contracture, Camptodactyly o... OMIM:259600
Hemochromatosis, Type 1
Congestive heart failure, Hepatomegaly, Hyperpigmentation of the skin, Hepatocellular carcinoma, ... OMIM:235200
Hallermann-Streiff Syndrome
Narrow palate, Microphthalmia, Iris coloboma, High, narrow palate, Hypertension, High palate, Spa... OMIM:234100
Stickler Syndrome, Type I
Retinal detachment, Arthritis, Membranous vitreous appearance, Vitreoretinopathy, Bifid uvula, Cl... OMIM:108300
Cardiac Valvular Dysplasia 2
Pulmonary insufficiency, Aortic regurgitation, Palpitations, Dysplastic aortic valve, Tricuspid r... OMIM:620067
Idiopathic Chronic Eosinophilic Pneumonia
Generalized abnormality of skin, Hypersensitivity pneumonitis, Atelectasis, Pleural effusion, Dys... ORPHA:2902
Mitochondrial Dna Depletion Syndrome 12B (Cardiomyopathic Type), Autosomal Recessive
Hypertrophic cardiomyopathy, Left ventricular hypertrophy, Achilles tendon contracture, Heart mur... OMIM:615418
Immunodeficiency 97 With Autoinflammation
Recurrent otitis media, Diarrhea, Abdominal pain, Decreased circulating antibody level, Eczematoi... OMIM:619802
Hutchinson-Gilford Progeria Syndrome
Ventricular hypertrophy, Hypertension, Corneal opacity, Shallow orbits, Aortic valve stenosis, Ab... ORPHA:740
Craniosynostosis, Herrmann-Opitz Type
Aplasia/Hypoplasia of the lungs ORPHA:2145
Bazex-Dupré-Christol Syndrome
Trichorrhexis nodosa, Coarse hair, Sparse or absent eyelashes, Sparse scalp hair, Sparse eyebrow,... ORPHA:113
Cardiomyopathy, Familial Hypertrophic, 4
Ventricular hypertrophy, Myofiber disarray, Cardiomegaly, Myopathy, Ventricular septal hypertroph... OMIM:115197
Chondroitin-6-Sulfaturia, Defective Cellular Immunity, Nephrotic Syndrome
Opacification of the corneal stroma, Cor pulmonale OMIM:215250
Rhizomelic Syndrome
Pulmonic stenosis OMIM:268250
Hypermobile Ehlers-Danlos Syndrome
Rectal prolapse, High, narrow palate, Inguinal hernia, Anorectal anomaly, Gastroesophageal reflux... ORPHA:285
Weill-Marchesani Syndrome 2
Narrow palate, Congestive heart failure, Iridodonesis, Astigmatism, Flexion contracture of toe, M... OMIM:608328
Ectodermal Dysplasia-Syndactyly Syndrome 1
Coarse hair, Small nail, Sparse scalp hair, Patchy alopecia, Sparse eyelashes, Hypoplastic toenai... OMIM:613573
Leigh Syndrome
Respiratory insufficiency, Respiratory failure, Ptosis, Abnormal pattern of respiration OMIM:256000
Polycythemia Vera
Acute leukemia, Myelofibrosis, Leukocytosis, Polycythemia, Splenomegaly, Thrombocytosis ORPHA:729
Focal Dermal Hypoplasia
Congenital diaphragmatic hernia, Nail dysplasia, Microphthalmia, Nail dystrophy, Aniridia, Ridged... OMIM:305600
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome
Astigmatism, Hypoplastic fifth toenail, Patent foramen ovale, High palate, Contracture of the pro... ORPHA:457279
Gomez-Lopez-Hernandez Syndrome
Decreased response to growth hormone stimulation test, High palate, Downslanted palpebral fissure... OMIM:601853
Diamond-Blackfan Anemia 11
Hypoplasia of the ulna, Hypoplasia of the radius, Finger aplasia, Absent thumb, Eyelid coloboma, ... OMIM:614900
Hypermanganesemia With Dystonia 1
Polycythemia OMIM:613280
B4Galt7-Related Spondylodysplastic Ehlers-Danlos Syndrome
Telecanthus, Atrophic scars, Sparse scalp hair, Pulmonic stenosis, Sparse eyelashes, Sparse eyebr... ORPHA:75496
Premature Aging Syndrome, Penttinen Type
Lipoatrophy, Microphthalmia, Corneal stromal edema, Corneal opacity, Shallow orbits, Joint contra... OMIM:601812
Aniridia, Microcornea, And Spontaneously Reabsorbed Cataract
Cataract, Microcornea, Aniridia OMIM:106230
Distal Triplication 15Q
Pulmonary hypoplasia, Telecanthus ORPHA:314588
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 2
Ptosis, Respiratory insufficiency due to muscle weakness, Respiratory distress OMIM:613561
Microcephaly-Cardiomyopathy Syndrome
High, narrow palate, Dilated cardiomyopathy, Ventricular septal defect, Abnormality of retinal pi... ORPHA:2515
Farber Disease
Macular degeneration, Arthritis, Corneal opacity, Hepatosplenomegaly, Cherry red spot of the macu... ORPHA:333
Epiphyseal Dysplasia, Multiple, With Myopia And Conductive Deafness
Cataract, Retinal thinning, Asteroid hyalosis OMIM:132450
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome
Cholelithiasis, Bacterial endocarditis, Spontaneous, recurrent epistaxis, Esophageal varix, Corne... ORPHA:2072
Renpenning Syndrome 1
Situs inversus totalis, Microphthalmia, Telecanthus, Brittle hair, Coloboma, High palate, Camptod... OMIM:309500
Immunodeficiency 50
Decreased circulating antibody level, Eczematoid dermatitis OMIM:300988
Sonoda Syndrome
Ventricular septal defect OMIM:270460
Suleiman-El-Hattab Syndrome
Recurrent respiratory infections, Highly arched eyebrow, Patent foramen ovale, Hirsutism, High pa... OMIM:618950
Kid Syndrome
Corneal neovascularization, Nail dystrophy, Corneal erosion, Aplastic/hypoplastic lacrimal glands... ORPHA:477
Congenital Toxoplasmosis
Cardiomegaly, Microphthalmia, Abnormality of retinal pigmentation, Hepatomegaly ORPHA:858
Esophageal Atresia
Cyanosis, Respiratory distress, Bronchitis, Coloboma, Pulmonary hypoplasia, Recurrent respiratory... ORPHA:1199
Schuurs-Hoeijmakers Syndrome
Highly arched eyebrow, Patent foramen ovale, Synophrys, Long eyelashes, Ptosis, Downslanted palpe... OMIM:615009
Bleeding Disorder, Platelet-Type, 17
Impaired epinephrine-induced platelet aggregation, Absence of alpha granules, Impaired collagen-i... OMIM:187900
Elliptocytosis 2
Elliptocytosis, Hemolytic anemia, Reticulocytosis OMIM:130600
Tarp Syndrome
Short palpebral fissure, Apnea, Thick eyebrow, Pulmonary hypoplasia, Cyanosis ORPHA:2886
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation
Ankle flexion contracture, Astigmatism, Aortic regurgitation, Gastroesophageal reflux, Retinal de... ORPHA:464311
Attrv122I Amyloidosis
Abnormal atrioventricular conduction, Congestive heart failure, Reduced left ventricular ejection... ORPHA:85451
Recessive X-Linked Ichthyosis
Opacification of the corneal stroma, Cryptorchidism ORPHA:461
Muscular Dystrophy, Congenital, With Infantile Cataract And Hypogonadism
Cataract OMIM:254000
Ritscher-Schinzel Syndrome 1
Decreased response to growth hormone stimulation test, Coloboma, Low posterior hairline, Anal atr... OMIM:220210
Acrodermatitis Enteropathica
Cheilitis, Corneal erosion, Ridged nail, Abnormality of the nail, Glossitis, Abnormal eyelid morp... ORPHA:37
Thoraco-Abdominal Enteric Duplication
Abnormal tricuspid valve morphology, Dextrocardia ORPHA:1759
Glutamine Deficiency, Congenital
Apnea, Neonatal death, Recurrent respiratory infections, Neonatal respiratory distress, Erythema OMIM:610015
Umbilical Cord Ulceration-Intestinal Atresia Syndrome
Ventricular septal defect, Abnormal tricuspid valve morphology ORPHA:3405
Oculo-Palato-Cerebral Syndrome
Microphthalmia, High, narrow palate, Retinal detachment, Remnants of the hyaloid vascular system,... ORPHA:2714
Von Willebrand Disease, Type 1
Gastrointestinal hemorrhage, Aortic valve stenosis, Menorrhagia, Joint hemorrhage, Epistaxis, Bru... OMIM:193400
Pelvis-Shoulder Dysplasia
Short palpebral fissure, Bilateral microphthalmos, Facial hirsutism, Microcornea, Retinal colobom... ORPHA:2839
Bazex-Dupre-Christol Syndrome
Trichorrhexis nodosa, Trichoepithelioma, Furrowed tongue, Atopic dermatitis, Eczematoid dermatiti... OMIM:301845
Recessive Dystrophic Epidermolysis Bullosa Inversa
Gastrointestinal inflammation, Nail dystrophy, Corneal erosion, Atrophic scars, Anonychia, Esopha... ORPHA:79409
X-Linked Immunoneurologic Disorder
Cataract ORPHA:2571
Feingold Syndrome 2
Intestinal atresia, Ventricular septal defect OMIM:614326
Branchio-Oculo-Facial Syndrome
Premature graying of hair, Iris coloboma, Microcornea, Coloboma, High palate, Ptosis, Fingernail ... ORPHA:1297
Pseudo-Torch Syndrome 1
Hepatomegaly, Patent foramen ovale, High palate, Splenomegaly, Umbilical hernia, Cataract, Opacif... OMIM:251290
Microcephaly-Corpus Callosum And Cerebellar Vermis Hypoplasia-Facial Dysmorphism-Intellectual Disability Syndrom
Recurrent otitis media, Highly arched eyebrow, Patent foramen ovale, Abnormal size of the palpebr... ORPHA:500159
Thrombocytopenia-Absent Radius Syndrome
Atrioventricular canal defect, Meckel diverticulum, Seborrheic dermatitis, Corneal opacity, Ptosi... OMIM:274000
Spherocytosis, Type 2
Spherocytosis, Reticulocytosis, Splenomegaly, Acanthocytosis, Hemolytic anemia OMIM:616649
Hepatic Veno-Occlusive Disease
Respiratory failure, Jaundice ORPHA:890
Lymphoid Interstitial Pneumonia
Aortic valve stenosis, Cor pulmonale OMIM:247610
17Q12 Microduplication Syndrome
Microphthalmia, Tracheoesophageal fistula, Synophrys, Cleft palate, Atrial septal defect ORPHA:261272
Martsolf Syndrome 2
Cataract, Camptodactyly of finger, Developmental cataract, Camptodactyly OMIM:619420
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome
Cheilitis, Corneal erosion, Hyperconvex fingernails, Corneal opacity, Sparse hair, Thin fingernai... ORPHA:2273
Glycogen Storage Disease Of Heart, Lethal Congenital
Congestive heart failure, Enlarged kidney, Bradycardia, ST segment elevation, Cardiomyopathy, Hyp... OMIM:261740
Tyshchenko Syndrome
Narrow palate, High, narrow palate, Thick hair, High palate, Pulmonic stenosis, Ptosis, Cleft pal... OMIM:615102
Thanatophoric Dysplasia Type 2
Respiratory insufficiency, Aplasia/Hypoplasia of the lungs ORPHA:93274
Uveal Melanoma
Mydriasis, Abnormal fundus morphology, Inflammatory abnormality of the eye, Retinal detachment, I... ORPHA:39044
Combined Oxidative Phosphorylation Deficiency 28
Respiratory failure OMIM:616794
Familial Dysautonomia
Optic atrophy, Orthostatic hypotension, Corneal erosion, Gastroesophageal reflux, Hypertension, C... ORPHA:1764
Stuve-Wiedemann Syndrome 1
Short palpebral fissure, Premature skin wrinkling, Respiratory insufficiency, Death in infancy, A... OMIM:601559
Neuroectodermal Melanolysosomal Disease
Premature graying of hair, Hypopigmentation of hair, Hypopigmentation of the skin, Generalized hy... ORPHA:33445
Klippel-Trénaunay Syndrome
Congestive heart failure, Gastrointestinal hemorrhage, Hydrops fetalis, Abnormal tricuspid valve ... ORPHA:90308
Monosomy 18Q
Congestive heart failure, Pulmonary valve defects, Dysplastic pulmonary valve, Absence of the pul... ORPHA:1600
Galactose Mutarotase Deficiency
Cataract, Hepatomegaly ORPHA:570422
Neuhauser Syndrome
Corneal arcus, Iris transillumination defect, Iridodonesis, Retinal detachment, High palate, Mega... OMIM:249310
Intellectual Disability-Craniofacial Dysmorphism-Cryptorchidism Syndrome
Bilateral ptosis, Gastroesophageal reflux, Highly arched eyebrow, Patent foramen ovale, Coloboma,... ORPHA:329224
Autoinflammation, Antibody Deficiency, And Immune Dysregulation
Interstitial pneumonitis, Enterocolitis, Decreased circulating total IgM, Decreased circulating I... OMIM:614878
Wolf-Hirschhorn Syndrome
Optic atrophy, Congenital diaphragmatic hernia, High anterior hairline, Iris coloboma, Chronic ot... ORPHA:280
Osteopetrosis, Autosomal Recessive 4
Osteopetrosis, Anemia, Increased bone mineral density, Reticulocytosis, Thrombocytopenia, Splenom... OMIM:611490
Poems Syndrome
Sclerosis of hand bone, Sclerosis of foot bone, Polycythemia, Splenomegaly, Sclerosis of skull ba... ORPHA:2905
Autosomal Agammaglobulinemia
Chronic otitis media, Diarrhea, Arthritis, Skin rash, High palate, Sinusitis, Failure to thrive, ... ORPHA:33110
Oligoarticular Juvenile Idiopathic Arthritis
Band keratopathy, Knee osteoarthritis, Arthritis, Uveitis, Rheumatoid arthritis, Cataract, Anteri... ORPHA:85410
Multiple Sulfatase Deficiency
Retinal degeneration, Hepatomegaly, Corneal opacity, Splenomegaly OMIM:272200
Mucolipidosis Ii Alpha/Beta
Palpebral edema, Enlarged kidney, Splenomegaly, Sparse hair, Umbilical hernia, Heart murmur, Card... OMIM:252500
Alpha-Methylacyl-Coa Racemase Deficiency
Cataract, Rod-cone dystrophy, Pigmentary retinopathy OMIM:614307
Digeorge Syndrome
Seborrheic dermatitis, Bifid uvula, Ovarian cyst, Splenomegaly, Recurrent sinusitis, Umbilical he... OMIM:188400
Diffuse Alveolar Hemorrhage
Respiratory failure requiring assisted ventilation, Dyspnea, Hypoxemia, Pulmonary fibrosis, Irreg... ORPHA:90060
Cleft Palate, Cardiac Defects, And Impaired Intellectual Development
Perimembranous ventricular septal defect, High anterior hairline, Gastroesophageal reflux, Highly... OMIM:600987
Mucolipidosis Iii Alpha/Beta
Hepatomegaly, Aortic regurgitation, Inguinal hernia, Cardiomyopathy, Retinopathy, Hyperopic astig... OMIM:252600
Intellectual Developmental Disorder, Autosomal Dominant 48
Recurrent otitis media, Highly arched eyebrow, Synophrys, Long palpebral fissure, Eczematoid derm... OMIM:617751
Congenital Myopathy 10B, Mild Variant
Respiratory failure, Recurrent pneumonia OMIM:620249
Congenital Tufting Enteropathy
Abnormal large intestinal mucosa morphology, Steatorrhea, Elevated fecal osmolality, Abnormal sma... ORPHA:92050
Genitopatellar Syndrome
Apnea, Pulmonary hypoplasia ORPHA:85201
Hyperlipoproteinemia, Type Id
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Pancreatitis, Increased circulatin... OMIM:615947
Usher Syndrome Type 1
Cataract, Abnormal dental enamel morphology, Iris hypopigmentation ORPHA:231169
Retinal Degeneration-Nanophthalmos-Glaucoma Syndrome
Optic atrophy, Microphthalmia, Abnormality of retinal pigmentation ORPHA:1574
Overgrowth-Macrocephaly-Facial Dysmorphism Syndrome
Optic nerve hypoplasia, Unilateral cryptorchidism, Pulmonic stenosis, Downslanted palpebral fissu... ORPHA:137634
Retinitis Pigmentosa 13
Bone spicule pigmentation of the retina, Asteroid hyalosis, Cystoid macular edema, Optic disc dru... OMIM:600059
Albinism, Oculocutaneous, Type Iv
Albinism, Blue irides, Hypopigmentation of hair OMIM:606574
Cutis Laxa, Autosomal Recessive, Type Iiib
Developmental glaucoma, Inguinal hernia, Elbow flexion contracture, Cryptorchidism, Pyloric steno... OMIM:614438
Spondyloepiphyseal Dysplasia, Sensorineural Hearing Loss, Impaired Intellectual Development, And Leber Congenital Amaurosis
Macular coloboma, Geographic atrophy, Synophrys, Attenuation of retinal blood vessels, Cataract, ... OMIM:619260
Hypohidrotic Ectodermal Dysplasia-Hypothyroidism-Ciliary Dyskinesia Syndrome
Dystrophic fingernails, Dystrophic toenail, Sparse scalp hair, Sparse eyebrow, Fine hair, Alopecia ORPHA:1882
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 2
Astigmatism, Oral-pharyngeal dysphagia, Brittle hair, Patent foramen ovale, Enamel hypoplasia, Cl... OMIM:619184
Meckel Syndrome, Type 6
Pulmonary hypoplasia, Bilobed right lung OMIM:612284
Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type
Congestive heart failure, Gastroesophageal reflux, Hypopigmentation of hair, Hypertrophic cardiom... ORPHA:70472
Mitochondrial Dna Depletion Syndrome 9 (Encephalomyopathic Type With Methylmalonic Aciduria)
Death in childhood, Respiratory insufficiency, Death in infancy, Neonatal death, Respiratory fail... OMIM:245400
Progressive Nodular Histiocytosis
Cachexia ORPHA:158022
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome
Short palpebral fissure, Perimembranous ventricular septal defect, Atrioventricular canal defect,... ORPHA:508498
Xk Aprosencephaly Syndrome
Atrial septal defect, Ventricular septal defect, Anal atresia, Microphthalmia ORPHA:3469
Hajdu-Cheney Syndrome
Intestinal malrotation, Aortic valve stenosis, Splenomegaly, Umbilical hernia, Hernia, Inguinal h... ORPHA:955
Muckle-Wells Syndrome
Optic atrophy, Hepatomegaly, Recurrent aphthous stomatitis, Vasculitis, Skin rash, Arthritis, Epi... ORPHA:575
Refractory Celiac Disease
Malnutrition, Protein-losing enteropathy, Jejunitis, Hypocalcemia, Chronic diarrhea, Abdominal pa... ORPHA:398063
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly
Jaundice, Respiratory insufficiency, Death in infancy, Pulmonary hypoplasia, Recurrent respirator... OMIM:208500
Peroxisome Biogenesis Disorder 11B
Cataract, Hepatosplenomegaly OMIM:614885
Vici Syndrome
Atrial septal defect, Congestive heart failure, Hypopigmentation of hair, Chronic mucocutaneous c... OMIM:242840
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly
Respiratory insufficiency, Stillbirth, Sparse eyebrow, Pulmonary hypoplasia OMIM:616300
Hermansky-Pudlak Syndrome 3
Impaired platelet aggregation, Abnormal number of dense granules OMIM:614072
Peroxisome Biogenesis Disorder 5A (Zellweger)
Palpebral edema, Small nail, Splenomegaly, Heart murmur, Optic nerve dysplasia, Optic atrophy, Ao... OMIM:614866
Cystinosis
Retinopathy, Corneal opacity, Portal hypertension ORPHA:213
Wilson Disease
Hepatomegaly, Acute hepatitis, Kayser-Fleischer ring, Arthritis, Splenomegaly, Hepatitis, Pruritus ORPHA:905
Retinitis Pigmentosa 89
Retinal thinning, Esophageal varix, Hepatosplenomegaly, Bicuspid aortic valve, Hyperautofluoresce... OMIM:618955
Neuropathy, Congenital Hypomyelinating, 3
Respiratory insufficiency, Ptosis, Neonatal death, Epicanthus, Respiratory failure OMIM:618186
3P25.3 Microdeletion Syndrome
Microphthalmia, High, narrow palate, Pulmonic stenosis, Pyloric stenosis, Downslanted palpebral f... ORPHA:435638
Linear Iga Dermatosis
Inflammation of the large intestine, Pruritus ORPHA:46488
Hypotrichosis 13
Sparse eyelashes, Sparse hair, Woolly hair, Abnormal sweat gland morphology OMIM:615896
Hereditary Central Diabetes Insipidus
Diarrhea, Vomiting, Weight loss ORPHA:30925
Microgastria-Limb Reduction Defect Syndrome
Microphthalmia, Hepatomegaly, Esophageal atresia, Rectovaginal fistula, Anophthalmia, Gastroesoph... ORPHA:2538
3-Methylglutaconic Aciduria Type 7
Pneumothorax, Respiratory failure ORPHA:445038
Cantú Syndrome
Curly eyelashes, Abnormal heart valve morphology, Low posterior hairline, Hypertrophic cardiomyop... ORPHA:1517
Brain-Lung-Thyroid Syndrome
Abnormal pulmonary interstitial morphology, Respiratory distress, Recurrent pneumonia, Pulmonary ... ORPHA:209905
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia
Chronic oral candidiasis, Nail dystrophy, Hypoparathyroidism, Cholelithiasis, Chronic active hepa... OMIM:240300
Cerebellar Ataxia-Ectodermal Dysplasia Syndrome
Fine hair, Sparse hair ORPHA:1174
Cataract 47
Cataract, Microcornea OMIM:612018
Microphthalmia With Hyperopia, Retinal Degeneration, Macrophakia, And Dental Anomalies
Retinal degeneration, Microphthalmia OMIM:251700
Mosaic Trisomy 20
Abnormal mitral valve morphology, Ventricular septal defect, Upslanted palpebral fissure, Dysplas... ORPHA:1724
Mitochondrial Pyruvate Carrier Deficiency
Epicanthus, Respiratory distress OMIM:614741
Cardiomyopathy, Dilated, 2H
Secundum atrial septal defect, Muscular ventricular septal defect, Neonatal death OMIM:620203
Lethal Acantholytic Erosive Disorder
Absent hair, Absent eyelashes, Cardiomyopathy, Absent fingernail, Hypovolemic shock, Absent eyebr... ORPHA:158687
Fryns Syndrome
Microphthalmia, Small nail, Meckel diverticulum, Intestinal malrotation, Aganglionic megacolon, C... OMIM:229850
Hengel-Maroofian-Schols Syndrome
Synophrys, Ptosis, Thick eyebrow, Epicanthus, Bicuspid aortic valve OMIM:619641
Monosomy 9Q22.3
Microphthalmia, Ovarian fibroma, Retinopathy, Cardiac fibroma, Downslanted palpebral fissures, Ep... ORPHA:77301
Fetal Trimethadione Syndrome
Transposition of the great arteries, High palate, Synophrys, Ptosis, Tetralogy of Fallot, Epicant... ORPHA:1913
Nocardiosis
Pneumothorax, Emphysema, Pleuritis, Respiratory distress, Pleural effusion, Dyspnea, Dacryocystit... ORPHA:31204
Noonan Syndrome-Like Disorder With Loose Anagen Hair
Hypoplastic toenails, Sparse scalp hair, Low posterior hairline, Hypertrophic cardiomyopathy, Pul... ORPHA:2701
Exudative Vitreoretinopathy 6
Posterior vitreous detachment, Retinal exudate, Patchy atrophy of the retinal pigment epithelium,... OMIM:616468
Hermansky-Pudlak Syndrome 1
Hypopigmentation of hair, Colitis, Hypopigmentation of the skin, Cardiomyopathy, Inflammation of ... OMIM:203300
Geleophysic Dysplasia 3
Pneumonia, Respiratory failure, Dyspnea OMIM:617809
Diaphragmatic Hernia 4, With Cardiovascular Defects
Aortopulmonary window, Pulmonary artery hypoplasia, Downslanted palpebral fissures, Pulmonary hyp... OMIM:620025
Deafness, Congenital Heart Defects, And Posterior Embryotoxon
Posterior embryotoxon, Peripheral pulmonary artery stenosis, Ventricular septal defect, Tetralogy... OMIM:617992
Curry-Jones Syndrome
High anterior hairline, Microphthalmia, Anal stenosis, Intestinal pseudo-obstruction, Hirsutism, ... OMIM:601707
Galloway-Mowat Syndrome 1
Optic atrophy, Microphthalmia, Small nail, High palate, Camptodactyly, Hypoplasia of the iris, Pt... OMIM:251300
Immunodeficiency 90 With Encephalopathy, Functional Hyposplenia, And Hepatic Dysfunction
Ventricular septal defect, Pulmonary artery atresia, Death in childhood OMIM:613759
Loeys-Dietz Syndrome 4
High, narrow palate, Inguinal hernia, High palate, Eosinophilic infiltration of the esophagus, Pt... OMIM:614816
Hereditary Leiomyomatosis And Renal Cell Cancer
Cataract, Barrett esophagus, Pruritus, Esophageal neoplasm ORPHA:523
Cutis Laxa, Autosomal Dominant 3
Developmental cataract, Hernia, Corneal opacity, Aortic regurgitation OMIM:616603
Spherocytosis, Type 4
Spherocytosis, Splenomegaly, Hemolytic anemia, Reticulocytosis OMIM:612653
Epidermolysis Bullosa, Junctional 7, With Interstitial Lung Disease And Nephrotic Syndrome
Abnormal pulmonary interstitial morphology, Recurrent respiratory infections, Respiratory distres... OMIM:614748
Caudal Regression Syndrome
Pulmonary hypoplasia ORPHA:3027
Congenitally Uncorrected Transposition Of The Great Arteries
Hypoxemia, Tachypnea, Anomalous pulmonary venous return, Cyanosis ORPHA:860
Schimmelpenning-Feuerstein-Mims Syndrome
Coloboma, Corneal opacity, Alopecia OMIM:163200
Chronic Pneumonitis Of Infancy
Intercostal retractions, Respiratory distress, Hypoxemia, Tachypnea, Cyanosis, Hyperventilation ORPHA:91359
Kury-Isidor Syndrome
Astigmatism, Recurrent otitis media, High palate, Ptosis, Downslanted palpebral fissures, Ventric... OMIM:619762
Immunodeficiency 115 With Autoinflammation
Intermittent diarrhea, Intestinal lymphangiectasia, Partial absence of specific antibody response... OMIM:620632
Waardenburg Syndrome
Premature graying of hair, Hypopigmented skin patches, Intestinal obstruction, Aganglionic megaco... ORPHA:3440
Borjeson-Forssman-Lehmann Syndrome
Decreased testicular size, Ptosis, Camptodactyly of toe, Thick eyebrow, Sparse hair, Cataract, Cr... ORPHA:127
Short-Rib Thoracic Dysplasia 12
Atelectasis, Respiratory insufficiency, Neonatal death, Pulmonary hypoplasia, Epicanthus OMIM:269860
Pulmonary Atresia With Ventricular Septal Defect
Ventricular septal defect, Pulmonary artery atresia OMIM:178370
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 3
Short palpebral fissure, High anterior hairline, High, narrow palate, Recurrent otitis media, Cle... OMIM:619950
Spondylometaphyseal Dysplasia, X-Linked
Respiratory insufficiency, Respiratory failure OMIM:313420
Huntington Disease-Like 2
Weight loss ORPHA:98934
Myopia 28, Autosomal Recessive
Retinal detachment, Cataract OMIM:619781
16P12.1P12.3 Triplication Syndrome
Short palpebral fissure, Abnormal tricuspid valve morphology, Abnormal heart morphology, Unilater... ORPHA:485405
Pfapa Syndrome
Arthritis, Abdominal pain, Malabsorption, Weight loss, Nausea and vomiting, Infectious encephalitis ORPHA:42642
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects
Congenital diaphragmatic hernia, Bicuspid aortic valve, Developmental glaucoma, Abnormally large ... OMIM:245600
Sarcosinemia
Pulmonic stenosis, Hypertrophic cardiomyopathy ORPHA:3129
Mitochondrial Complex I Deficiency, Nuclear Type 36
Cardiomegaly, Perimembranous ventricular septal defect, Recurrent lower respiratory tract infecti... OMIM:619170
Ablepharon Macrostomia Syndrome
Breast hypoplasia, Corneal erosion, Absent eyelashes, Corneal opacity, Ablepharon, Absent eyebrow... ORPHA:920
Peters Plus Syndrome
Optic atrophy, Short palpebral fissure, Iris coloboma, Anterior hypopituitarism, Inguinal hernia,... ORPHA:709
Heterotaxy, Visceral, 7, Autosomal
Hypoplasia of right ventricle, Situs inversus totalis, Transposition of the great arteries, Abnor... OMIM:616749
Craniometadiaphyseal Dysplasia, Wormian Bone Type
Downslanted palpebral fissures, High palate, Curly hair ORPHA:85184
Neurodegeneration, Childhood-Onset, With Multisystem Involvement Due To Mitochondrial Dysfunction
Optic atrophy, Cardiomyopathy, High palate, Pericardial effusion, Opto-chiasmatic atrophy, Cataract OMIM:620089
Iga Pemphigus
Increased circulating IgA level, Monoclonal elevation of circulating IgA, Pustule, Neutrophilic i... ORPHA:555905
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins
Pulmonary valve atresia, Parachute mitral valve, Atrioventricular canal defect, Partial anomalous... OMIM:265380
Dentici-Novelli Neurodevelopmental Syndrome
Cataract, Upslanted palpebral fissure OMIM:619877
Congenital Alveolar Capillary Dysplasia
Pulmonary valve atresia, Atrioventricular canal defect, Aortic valve stenosis, Tetralogy of Fallo... ORPHA:210122
Mitochondrial Complex I Deficiency, Nuclear Type 39
Cardiomegaly, Atrial septal defect, Perimembranous ventricular septal defect, Hypertrophic cardio... OMIM:620135
Baraitser-Winter Syndrome 2
Microphthalmia, Telecanthus, Highly arched eyebrow, Coloboma, Long palpebral fissure, Ptosis OMIM:614583
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency
Normocytic anemia, Normochromic anemia, Nonspherocytic hemolytic anemia, Reticulocytosis, Splenom... OMIM:235700
Mucopolysaccharidosis Type 7
Inguinal hernia, Corneal opacity, Splenomegaly, Umbilical hernia, Hepatitis ORPHA:584
Raine Syndrome
Highly arched eyebrow, Death in infancy, Downslanted palpebral fissures, Neonatal death, Pulmonar... OMIM:259775
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease
Neonatal death, Pulmonary hypoplasia OMIM:263200
Megalencephaly-Polymicrogyria-Postaxial Polydactyly-Hydrocephalus Syndrome
Ventricular septal defect, Mitral regurgitation, Telecanthus, Abnormal cardiac septum morphology ORPHA:83473
Nance-Horan Syndrome
Microcornea, Posterior Y-sutural cataract, Developmental cataract, Microphthalmia OMIM:302350
Verloove Vanhorick-Brubakk Syndrome
Aplasia/Hypoplasia of the lungs ORPHA:3429
Mitochondrial Complex Ii Deficiency, Nuclear Type 3
Left ventricular systolic dysfunction, Hepatomegaly, Patent foramen ovale, Aspiration pneumonia, ... OMIM:619167
Combined Immunodeficiency Due To Zap70 Deficiency
Chronic oral candidiasis, Stomatitis, Chronic diarrhea, Skin rash, Chronic mucocutaneous candidia... ORPHA:911
Myhre Syndrome
Narrow palpebral fissure, Microphthalmia, Hypertension, Camptodactyly, Cryptorchidism, Aortic val... OMIM:139210
Blindness-Scoliosis-Arachnodactyly Syndrome
Microphakia, Retinal detachment, Abnormality of retinal pigmentation, Cataract, Lens subluxation ORPHA:171844
Waardenburg Syndrome, Type 4B
Hypopigmented skin patches, Premature graying of hair, Aganglionic megacolon, Heterochromia iridi... OMIM:613265
Benign Familial Infantile Epilepsy
Apnea, Cyanosis ORPHA:306
Cerebrooculofacioskeletal Syndrome 3
Microphthalmia, Arthrogryposis multiplex congenita, Cleft palate OMIM:616570
Proteus-Like Syndrome
Thymus hyperplasia, Retinal detachment, Heterochromia iridis, Subcutaneous lipoma, Downslanted pa... ORPHA:2969
Erosive Pustular Dermatosis Of The Scalp
Pustule, Abnormal hair morphology, Scarring alopecia of scalp ORPHA:222
Familial Pseudohyperkalemia
Increased mean corpuscular volume, Stomatocytosis, Reticulocytosis, Episodic hemolytic anemia ORPHA:90044
Mucopolysaccharidosis-Plus Syndrome
Death in childhood, Telecanthus, Respiratory distress, Recurrent bronchopulmonary infections, Syn... OMIM:617303
Multiple Mitochondrial Dysfunctions Syndrome 2 With Hyperglycinemia
Respiratory distress, Respiratory insufficiency, Death in infancy, Respiratory failure, Tachypnea OMIM:614299
Cutis Laxa, Autosomal Recessive, Type Ic
Death in childhood, Emphysema, Atelectasis, Death in infancy, Recurrent pneumonia, Pulmonary hypo... OMIM:613177
Congenital Muscular Dystrophy With Intellectual Disability
Respiratory insufficiency, Respiratory failure ORPHA:370968
Steinfeld Syndrome
Microphthalmia, Median cleft palate, Retinal coloboma, Abnormal heart morphology, Bifid uvula, Ab... OMIM:184705
Dihydropyrimidine Dehydrogenase Deficiency
Optic atrophy, Microphthalmia, Coloboma OMIM:274270
Pityriasis Rubra Pilaris
Abnormality of the nail, Eczematoid dermatitis, Pustule, Subungual hyperkeratosis, Erythroderma, ... ORPHA:2897
Congenital Neuronal Ceroid Lipofuscinosis
Respiratory failure, Neonatal respiratory distress, Apnea ORPHA:168486
Lethal Congenital Contracture Syndrome 9
Axillary pterygium, Antecubital pterygium, Pulmonary hypoplasia, Cardiorespiratory arrest OMIM:616503
Vascular Ehlers-Danlos Syndrome
Hypertension, Abnormal intestine morphology, Cigarette-paper scars, Mitral valve prolapse, Umbili... ORPHA:286
Timothy Syndrome
Pneumonia, Prolonged QT interval, Bradycardia, Bronchitis, Patent foramen ovale, Pulmonary arteri... OMIM:601005
Drug Reaction With Eosinophilia And Systemic Symptoms
Myocarditis, Thyroiditis, Skin rash, Cardiac arrest, Pustule, Infectious encephalitis, Erythroder... ORPHA:139402
Fetal Alcohol Syndrome
Congenital diaphragmatic hernia, Microphthalmia, Telecanthus, Ptosis, Cleft palate, Generalized h... ORPHA:1915
Yellow Nail Syndrome
Generalized abnormality of skin, Pleuritis, Dyspnea, Neoplasm of the lung, Bronchiectasis, Recurr... ORPHA:662
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction
Narrow palate, Contracture of the proximal interphalangeal joint of the 4th finger, Decreased res... OMIM:618223
Albinism, Oculocutaneous, Type Ib
Albinism, Hypopigmentation of the skin, Hypopigmentation of hair OMIM:606952
Holocarboxylase Synthetase Deficiency
Anorexia, Perioral eczema, Keratoconjunctivitis, Eczematoid dermatitis, Hyperammonemia, Weight lo... ORPHA:79242
Palmoplantar Keratoderma And Congenital Alopecia 1
Nail dysplasia, Leukonychia, Brittle hair, Sparse eyebrow, Sparse hair, Alopecia OMIM:104100
Cataract 48
Cataract OMIM:618415
X-Linked Intellectual Disability, Najm Type
Optic atrophy, Optic nerve hypoplasia, Chorioretinal coloboma, Cataract ORPHA:163937
Glycogen Storage Disease Due To Acid Maltase Deficiency
Exertional dyspnea, Atelectasis, Respiratory distress, Respiratory insufficiency, Ptosis, Orthopn... ORPHA:365
Generalized Pseudohypoaldosteronism Type 1
Hyperkalemia, Atopic dermatitis, Increased circulating renin level, Hyponatremia, Pustule, Vomiti... ORPHA:171876
Auriculocondylar Syndrome 2A
Ptosis, Apnea, Respiratory distress OMIM:614669
Pontocerebellar Hypoplasia, Type 8
Astigmatism, Gastroesophageal reflux, Patent foramen ovale, Synophrys, Long eyelashes, Arthrogryp... OMIM:614961
Schimke Immuno-Osseous Dysplasia
Congestive heart failure, Ischemic stroke, Pancreatitis, Minimal change glomerulonephritis, Hyper... ORPHA:1830
Vici Syndrome
Optic atrophy, Cardiomyopathy, High palate, Abnormality of retinal pigmentation, Cataract, Abnorm... ORPHA:1493
Mitochondrial Neurogastrointestinal Encephalomyopathy
Abdominal distention, Abnormality of the gastrointestinal tract, Gastroesophageal reflux, Diarrhe... ORPHA:298
Fg Syndrome 3
Pyloric stenosis, Feeding difficulties, Chronic constipation, Sparse hair, Frontal upsweep of hai... OMIM:300406
Malignant Peritoneal Mesothelioma
Abdominal distention, Abdominal pain, Peritonitis, Weight loss, Ileus ORPHA:168811
Björnstad Syndrome
Alopecia, Brittle hair ORPHA:123
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart
Optic atrophy, Microphthalmia, Annular pancreas, Broad eyebrow, Peters anomaly, Small nail, Gastr... OMIM:616975
Schwartz-Jampel Syndrome, Type 1
Flexion contracture of toe, Inguinal hernia, Shoulder flexion contracture, Microcornea, High pala... OMIM:255800
Al-Gazali Syndrome
Recurrent pneumonia, Sclerocornea, Corneal opacity, Wrist flexion contracture OMIM:609465
Aniridia-Intellectual Disability Syndrome
Cataract, Optic nerve hypoplasia, Ectopia lentis, Aniridia ORPHA:1068
Intellectual Disability-Hyperkinetic Movement-Truncal Ataxia Syndrome
Cataract, Right ventricular dilatation ORPHA:369847
Cousin Syndrome
Short palpebral fissure, Microphthalmia, Facial hirsutism, Microcornea, Wrist flexion contracture... OMIM:260660
Classic Phenylketonuria
Cataract, Hypopigmentation of hair, Eczematoid dermatitis ORPHA:79254
Tatton-Brown-Rahman Syndrome
Narrow palpebral fissure, Tricuspid regurgitation, Horizontal eyebrow, Thick eyebrow, Epicanthus,... OMIM:615879
Hyper-Ige Syndrome 6, Autosomal Dominant, With Recurrent Infections
Gastroesophageal reflux, Increased circulating IgE level, Atopic dermatitis, Eosinophilic infiltr... OMIM:620532
Congenital Disorder Of Glycosylation, Type Iif
Macrothrombocytopenia, Decreased platelet glycoprotein Ib, Thrombocytopenia OMIM:603585
9Q31.1Q31.3 Microdeletion Syndrome
Highly arched eyebrow, Short clavicles, Bicuspid aortic valve, Dilated cardiomyopathy, Tapered fi... ORPHA:401923
Esophagitis, Eosinophilic, 2
Vomiting, Failure to thrive, Esophagitis, Dysphagia OMIM:613412
Esophagitis, Eosinophilic, 1
Vomiting, Failure to thrive, Esophagitis, Dysphagia OMIM:610247
Familial Thoracic Aortic Aneurysm And Aortic Dissection
Ischemic stroke, High, narrow palate, Cardiomegaly, Aortic regurgitation, Abnormality of connecti... ORPHA:91387
Neu-Laxova Syndrome
Pterygium, Abnormal nasolacrimal system morphology, Abnormal eyelid morphology, Abnormal eyelash ... ORPHA:2671
Jacobsen Syndrome
Ectropion, Aortic valve stenosis, Intestinal malrotation, Abnormality of the anus, Inguinal herni... ORPHA:2308
Stevenson-Carey Syndrome
Microphthalmia, Gastroesophageal reflux, Coloboma, Camptodactyly, Downslanted palpebral fissures,... OMIM:611961
Pachydermoperiostosis
Peptic ulcer, Gastrointestinal hemorrhage, Hepatomegaly, Abnormal hair quantity, Seborrheic derma... ORPHA:2796
Hyperekplexia 4
Respiratory failure OMIM:618011
Sensory Ataxic Neuropathy-Dysarthria-Ophthalmoparesis Syndrome
Cataract, Ptosis, Dilated cardiomyopathy, Intestinal pseudo-obstruction ORPHA:70595
Pierson Syndrome
Posterior lenticonus, Microphthalmia, Hypoplasia of the ciliary body, Retinal detachment, Hyperte... OMIM:609049
Lymphatic Malformation 7
Chylothorax, Pulmonary edema, Pleural effusion, Respiratory distress OMIM:617300
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity
Chronic oral candidiasis, Thyroiditis, Patchy alopecia, Eczematoid dermatitis, Cellulitis, Hepato... OMIM:606367
Immunodeficiency 81
Impaired collagen-induced platelet aggregation, Impaired neutrophil chemotaxis, Reduced natural k... OMIM:619374
Allergic Bronchopulmonary Aspergillosis
Bronchiectasis, Abnormal fingernail morphology, Weight loss ORPHA:1164
Short-Rib Thoracic Dysplasia 8 With Or Without Polydactyly
Pulmonary hypoplasia OMIM:615503
Autosomal Dominant Cutis Laxa
Congestive heart failure, Aortic regurgitation, Inguinal hernia, Corneal opacity, Ptosis, Dilatat... ORPHA:90348
Stickler Syndrome, Type Ii
High, narrow palate, Abnormal vitreous humor morphology, Retinal detachment, Cleft palate, Bifid ... OMIM:604841
Bernard-Soulier Syndrome, Type A2, Autosomal Dominant
Impaired ADP-induced platelet aggregation, Increased mean platelet volume, Impaired collagen-rela... OMIM:153670
Autosomal Dominant Congenital Benign Spinal Muscular Atrophy
Cachexia ORPHA:1216
Chromosome 13Q33-Q34 Deletion Syndrome
Pulmonary hypoplasia, Epicanthus OMIM:619148
Mitochondrial Complex Iii Deficiency, Nuclear Type 8
Respiratory failure, Tachypnea, Death in childhood, Ptosis OMIM:615838
Periventricular Nodular Heterotopia 1
Bicuspid aortic valve, Short finger, Clinodactyly, Syndactyly OMIM:300049
Microphthalmia, Syndromic 6
Microphthalmia, Retinal dystrophy, Anophthalmia, Anterior hypopituitarism, Orbital cyst, Microcor... OMIM:607932
Congenital Disorder Of Glycosylation, Type Iil
Decreased specific anti-polysaccharide antibody level, Chronic diarrhea, Esophageal varix, Elevat... OMIM:614576
Osteopathia Striata-Cranial Sclerosis Syndrome
High, narrow palate, Aortic valve stenosis, Cleft palate, Bifid uvula, Epicanthus, Cataract, Subm... ORPHA:2780
Neonatal Acute Respiratory Distress Due To Sp-B Deficiency
Spontaneous neonatal pneumothorax, Abnormal pulmonary interstitial morphology, Intraalveolar phos... ORPHA:217563
Ulerythema Ophryogenesis
Sparse lateral eyebrow, Contact dermatitis, Acne ORPHA:3406
Lcat Deficiency
Corneal opacity ORPHA:650
Exudative Vitreoretinopathy 1
Posterior vitreous detachment, Retinal exudate, Retinal detachment, Vitreous floaters, Subcapsula... OMIM:133780
Rutherfurd Syndrome
Opacification of the corneal stroma, Corneal dystrophy OMIM:180900
Neurodevelopmental Disorder With Neuromuscular And Skeletal Abnormalities
Optic atrophy, Medial flaring of the eyebrow, Gastroesophageal reflux, Retinal detachment, High p... OMIM:619833
Basal Cell Nevus Syndrome 1
Microphthalmia, Cardiac rhabdomyoma, Orbital cyst, Ovarian fibroma, Hamartomatous stomach polyps,... OMIM:109400
Caspase 8 Deficiency
Chronic diarrhea, Complete or near-complete absence of specific antibody response to unconjugated... OMIM:607271
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Death in childhood, Atelectasis, Respiratory insufficiency, Tachypnea, Pulmonary fibrosis, Respir... OMIM:618278
Oligomeganephronia
Pulmonary venous occlusion, Pulmonary hypoplasia, Optic disc coloboma ORPHA:2260
Hennekam Lymphangiectasia-Lymphedema Syndrome 1
Narrow palate, Pericardial lymphangiectasia, Rectal prolapse, Protein-losing enteropathy, Intesti... OMIM:235510
Peeling Skin Syndrome 1
Nail dystrophy, Brittle hair, Onycholysis, Erythroderma, Pruritus OMIM:270300
Mucopolysaccharidosis, Type Iiic
Coarse hair, Hepatomegaly, Hirsutism, Synophrys, Asymmetric septal hypertrophy, Splenomegaly, Dys... OMIM:252930
Isaacs Syndrome
Weight loss ORPHA:84142
Mitochondrial Myopathy With Reversible Cytochrome C Oxidase Deficiency
Respiratory failure requiring assisted ventilation, Ventilator dependence with inability to wean,... ORPHA:254864
Cardiac-Urogenital Syndrome
Mesocardia, Partial anomalous pulmonary venous return, Dextrocardia, Scimitar anomaly, Coronary s... OMIM:618280
Shigellosis
Abnormal blood ion concentration, Paralytic ileus, Anorexia, Myocarditis, Abdominal pain, Hyponat... ORPHA:810
Granular Corneal Dystrophy Type Ii
Recurrent corneal erosions, Granular corneal dystrophy, Central opacification of the cornea, Sube... ORPHA:98963
Central Hypoventilation Syndrome, Congenital, 3
Respiratory failure, Apnea, Central hypoventilation OMIM:619483
Brain Malformation-Congenital Heart Disease-Postaxial Polydactyly Syndrome
Nail dystrophy, Brittle hair, Pulmonary artery stenosis, Atrial septal defect, Ventricular septal... ORPHA:75389
Hypergonadotropic Hypogonadism-Cataract Syndrome
Cataract, Increased circulating gonadotropin level, Secondary growth hormone deficiency ORPHA:2410
X-Linked Mandibulofacial Dysostosis
Pulmonic stenosis, Abnormal mitral valve morphology, Downslanted palpebral fissures, Ptosis, Epic... ORPHA:1131
Rhizomelic Chondrodysplasia Punctata, Type 2
Inguinal hernia, Optic nerve hypoplasia, Zonular cataract, High palate, Hip contracture, Tetralog... OMIM:222765
Aniridia 3
Cataract, Aniridia OMIM:617142
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form
Scarring, Nail dystrophy, Onychogryposis, Smooth tongue, Atrophic scars, Corneal opacity, Enamel ... ORPHA:79396
Macrophage Activation Syndrome
Decreased liver function, Increased circulating interleukin 6 concentration, Elevated circulating... ORPHA:158061
Splenogonadal Fusion-Limb Defects-Micrognathia Syndrome
Abnormal lung lobation, Aplasia/Hypoplasia of the lungs ORPHA:2063
Rabin-Pappas Syndrome
Short palpebral fissure, Retinal telangiectasia, Retinal detachment, Optic nerve hypoplasia, High... OMIM:620155
Griscelli Syndrome Type 3
Iris hypopigmentation, Hypopigmentation of hair, Partial albinism ORPHA:79478
Foxp1 Syndrome
Recurrent otitis media, Constipation, Failure to thrive, Downslanted palpebral fissures, Abnormal... ORPHA:391372
Renin-Angiotensin-Aldosterone System-Blocker-Induced Angioedema
Angioedema, Palpebral edema, Erythema, Respiratory distress ORPHA:100057
Hermansky-Pudlak Syndrome
Gastrointestinal hemorrhage, Astigmatism, Hypopigmentation of hair, Abnormal dental enamel morpho... ORPHA:79430
Peritoneal Cystic Mesothelioma
Abdominal distention, Abdominal pain, Constipation, Peritonitis, Weight loss ORPHA:168816
Eosinophilic Granulomatosis With Polyangiitis
Purpura, Respiratory insufficiency, Nasal polyposis, Urticaria, Cutis marmorata, Abnormal pleura ... ORPHA:183
Developmental And Epileptic Encephalopathy 66
Astigmatism, Dextrocardia, Synophrys, Downslanted palpebral fissures, Atrial septal defect, Ventr... OMIM:618067
Larsen Syndrome
Ventricular septal defect, Corneal opacity, Shallow orbits, Short nail, Cleft palate, Atrial sept... OMIM:150250
Congenital Heart Defect-Round Face-Developmental Delay Syndrome
Generalized hyperpigmentation, Hypopigmentation of hair ORPHA:1355
Truncus Arteriosus
Abnormal lung lobation, Pulmonary edema, Pulmonary artery atresia, Pulmonary artery hypoplasia, P... ORPHA:3384
Vitamin K Antagonist Embryofetopathy
Optic atrophy, Aplasia/Hypoplasia affecting the eye, Cataract, Macroglossia ORPHA:1914
Alpha-N-Acetylgalactosaminidase Deficiency Type 2
Telangiectasia of the oral mucosa, Lip telangiectasia, Telangiectasia of the skin, Cardiomegaly, ... ORPHA:79280
Oculopalatocerebral Syndrome
Microphthalmia, Cleft palate, Remnants of the hyaloid vascular system, Leukocoria OMIM:257910
Legius Syndrome
Xanthelasma, Ovarian neoplasm, Pulmonic stenosis, Paroxysmal atrial tachycardia, Mitral valve pro... ORPHA:137605
Down Syndrome
Atrioventricular canal defect, Patent foramen ovale, Ebstein anomaly of the tricuspid valve, Tetr... OMIM:190685
Zygomycosis
Hematemesis, Gastrointestinal hemorrhage, Acute infectious pneumonia, Sinusitis, Pericarditis, Pu... ORPHA:73263
Alpha-Mannosidosis, Infantile Form
Pneumonia, Astigmatism, Aortic regurgitation, Highly arched eyebrow, Corneal opacity, Recurrent g... ORPHA:309282
Myotonic Dystrophy 1
Atrial flutter, Frontal balding, Cholelithiasis, Atrial fibrillation, Dysphagia, Cataract, First ... OMIM:160900
Glucose-Galactose Malabsorption
Abdominal distention, Diarrhea, Vomiting, Failure to thrive, Hypernatremia, Osmotic diarrhea, Hyp... ORPHA:35710
Gastrointestinal Defects And Immunodeficiency Syndrome 2
Bronchiectasis, Interstitial emphysema, Pulmonary hypoplasia OMIM:619708
Bardet-Biedl Syndrome 9
Bone spicule pigmentation of the retina, Astigmatism, Attenuation of retinal blood vessels, Catar... OMIM:615986
Joubert Syndrome 9
Cataract, Astigmatism, Retinal dystrophy OMIM:612285
Immunodeficiency 82 With Systemic Inflammation
Duodenal ulcer, Crohn's disease, Skin rash, Bowel irritability, Decreased circulating total IgA, ... OMIM:619381
Granular Corneal Dystrophy Type I
Recurrent corneal erosions, Abnormal corneal epithelium morphology, Central opacification of the ... ORPHA:98962
Morning Glory Disc Anomaly
Retinal detachment, Cataract, Abnormality of retinal pigmentation, Optic disc coloboma ORPHA:35737
Oculocutaneous Albinism, Type Viii
Iris transillumination defect, Hypopigmentation of the skin, Hypopigmentation of hair OMIM:619165
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis
Respiratory distress, Pulmonary fibrosis OMIM:612852
Atelosteogenesis Type Ii
Pulmonary hypoplasia, Telecanthus, Epicanthus ORPHA:56304
Intellectual Developmental Disorder, Autosomal Recessive 18, With Or Without Epilepsy
Atrial septal defect, Ventricular septal defect OMIM:614249
Linear Nevus Sebaceus Syndrome
Microphthalmia, Adenoma sebaceum, Iris coloboma, Telecanthus, Alopecia ORPHA:2612
Waardenburg Syndrome, Type 3
Premature graying of hair, Hypopigmented skin patches, Aganglionic megacolon, Telecanthus, Scapul... OMIM:148820
Congenital Disorder Of Glycosylation, Type Iu
Respiratory distress, Neonatal respiratory distress, Death in infancy OMIM:615042
Intellectual Developmental Disorder With Speech Delay And Axonal Peripheral Neuropathy
Respiratory distress OMIM:619099
Isolated Klippel-Feil Syndrome
Congenital muscular torticollis, Ectopic anus, Low posterior hairline, Spina bifida, Anal atresia... ORPHA:2345
Congenital Factor X Deficiency
Prolonged prothrombin time, Spontaneous hematomas, Gastrointestinal hemorrhage, Post-partum hemor... ORPHA:328
Fanconi Anemia
Microphthalmia, Meckel diverticulum, Tracheoesophageal fistula, Umbilical hernia, Abnormal cardia... ORPHA:84
Temple-Baraitser Syndrome
Pulmonic stenosis, Atrial septal defect, Epicanthus OMIM:611816
Alg1-Cdg
Abnormal heart morphology, Cardiomyopathy, Protein-losing enteropathy, Abnormality of the gastroi... ORPHA:79327
King-Denborough Syndrome
Bilateral ptosis, Ventricular septal defect, High palate, Ptosis, Centrally nucleated skeletal mu... OMIM:619542
Autoinflammation With Arthritis And Dyskeratosis
Corneal neovascularization, Hepatomegaly, Thyroiditis, Punctate keratitis, Splenomegaly, Keratoco... OMIM:617388
Familial Atrial Myxoma
Congestive heart failure, Bacterial endocarditis, Cardiac myxoma, Tricuspid regurgitation, Pulmon... ORPHA:615
Congenital Heart Defects, Multiple Types, 7
Pulmonic stenosis, Absence of the pulmonary valve, Tetralogy of Fallot OMIM:618780
Abetalipoproteinemia
Congestive heart failure, Steatorrhea, Hepatomegaly, Corneal ulceration, Ptosis, Abnormality of r... ORPHA:14
Panniculitis-Induced Localized Lipodystrophy
Inflammatory abnormality of the skin, Abnormal immunoglobulin level ORPHA:90159
Desbuquois Syndrome
Abnormal eyelash morphology, Camptodactyly of finger, Sparse hair, Aplasia/Hypoplasia of the abdo... ORPHA:1425
Contractural Arachnodactyly, Congenital
Elbow flexion contracture, High palate, Wrist flexion contracture, Congenital finger flexion cont... OMIM:121050
Mogs-Cdg
Hypoventilation, Pulmonary edema, Short palpebral fissure, Respiratory distress, Long eyelashes, ... ORPHA:79330
Posterior Column Ataxia With Retinitis Pigmentosa
Optic atrophy, Bone spicule pigmentation of the retina, Camptodactyly, Attenuation of retinal blo... OMIM:609033
Congenital-Onset Steinert Myotonic Dystrophy
Gastroesophageal reflux, Dysphagia, Bundle branch block, Cataract, First degree atrioventricular ... ORPHA:589821
Nevus Comedonicus Syndrome
Cataract, Abnormal hair morphology ORPHA:64754
Igg4-Related Aortitis
Intestinal obstruction, Increased circulating antibody level, Elevated circulating C-reactive pro... ORPHA:449400
Marfan Syndrome
Mitral valve prolapse, Mitral annular calcification, Bicuspid aortic valve, Narrow palate, Astigm... OMIM:154700
Hypotrichosis With Juvenile Macular Degeneration
Fine hair, Sparse scalp hair, Pili torti, Brittle hair ORPHA:1573
Tyrosinemia Type 2
Abnormality of the nail, Corneal opacity ORPHA:28378
Rheumatoid Factor-Positive Polyarticular Juvenile Idiopathic Arthritis
Symmetric polyarthritis, Elevated circulating C-reactive protein concentration, Arthritis, Synovi... ORPHA:85435
Cardiofaciocutaneous Syndrome
Sparse or absent eyelashes, Low posterior hairline, Pulmonic stenosis, Sparse hair, Fine hair, Op... ORPHA:1340
Dyschondrosteosis-Nephritis Syndrome
Corneal opacity ORPHA:1765
Bone Fragility With Contractures, Arterial Rupture, And Deafness
Nail dysplasia, Elbow flexion contracture, Shallow orbits, Contracture of the proximal interphala... OMIM:612394
Mitral Valve Prolapse 1
Mitral valve prolapse OMIM:157700
Trichothiodystrophy 7, Nonphotosensitive
Tiger tail banding, Brittle hair OMIM:618546
Chromosome 17Q23.1-Q23.2 Deletion Syndrome
Chalazion, Pulmonary arterial hypertension, Secundum atrial septal defect, Epicanthus, Bicuspid a... OMIM:613355
Neurodevelopmental Disorder With Intracranial Hemorrhage, Seizures, And Spasticity
Atelectasis, Telecanthus, Respiratory insufficiency, Highly arched eyebrow, Pulmonary artery atre... OMIM:620371
Proteasome-Associated Autoinflammatory Syndrome 1
Premature graying of hair, Flexion contracture of toe, Punctate opacification of the cornea, Recu... OMIM:256040
Von Willebrand Disease
Abnormality of thrombocytes, Abnormal platelet function, Thrombocytopenia ORPHA:903
Gaucher Disease
Hepatomegaly, Cholelithiasis, Abnormal heart valve morphology, Corneal opacity, Mitral valve calc... ORPHA:355
Oculoauriculofrontonasal Syndrome
Upper eyelid coloboma, Encephalocele, Cleft palate, Limbal dermoid, Ventricular septal defect ORPHA:398156
Hypoplastic Left Heart Syndrome
Atrial septal defect, Mitral stenosis, Hypoplastic left heart, Mitral atresia ORPHA:2248
Toxic Epidermal Necrolysis
Entropion, Respiratory distress, Abnormal pleura morphology, Conjunctivitis, Recurrent respirator... ORPHA:537
Craniofrontonasal Dysplasia
Congenital diaphragmatic hernia, Abnormality of hair texture, High palate, Woolly hair, Low poste... ORPHA:1520
Mucopolysaccharidosis, Type Iva
Grayish enamel, Hepatomegaly, Inguinal hernia, Abnormal heart valve morphology, Recurrent pneumon... OMIM:253000
Syndromic Diarrhea
Trichorrhexis nodosa, Intractable diarrhea, Villous atrophy, Gastritis, Panhypogammaglobulinemia,... ORPHA:84064
Early-Onset Progressive Diffuse Brain Atrophy-Microcephaly-Muscle Weakness-Optic Atrophy Syndrome
Respiratory failure requiring assisted ventilation, Sparse eyebrow, Recurrent pneumonia, Respirat... ORPHA:496641
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency
Recurrent otitis media, Diarrhea, Increased circulating IgE level, Sinusitis, Failure to thrive, ... ORPHA:277
Primary Intestinal Lymphangiectasia
Decreased circulating total IgM, Intestinal lymphangiectasia, Hypocalcemia, Chronic diarrhea, Abd... ORPHA:90362
Cardiomyopathy, Dilated, 1D
Congestive heart failure, Prolonged QT interval, Reduced left ventricular ejection fraction, Inco... OMIM:601494
Cardiospondylocarpofacial Syndrome
Muscular ventricular septal defect, Telecanthus, Patent foramen ovale, Ptosis, Epicanthus, Dyspla... OMIM:157800
Restrictive Dermopathy 1
Short palpebral fissure, Stillbirth, Entropion, Absent eyelashes, Prominent superficial blood ves... OMIM:275210
Hypogonadism-Cataract Syndrome
Cataract, Elevated circulating follicle stimulating hormone level OMIM:240950
Cockayne Syndrome
Microphthalmia, Retinal atrophy, Hypertension, Splenomegaly, Fine hair, Optic atrophy, Band kerat... ORPHA:191
Microphthalmia, Isolated, With Corectopia
Microphthalmia, Ectopia pupillae OMIM:156900
Wiedemann-Rautenstrauch Syndrome
Lipoatrophy, Corneal opacity, Pulmonic stenosis, Congenital malformation of the left heart, Aplas... ORPHA:3455
Ophthalmomandibulomelic Dysplasia
Opacification of the corneal stroma, Megalocornea OMIM:164900
Ritscher-Schinzel Syndrome 3
Microphthalmia, Atrioventricular canal defect, Highly arched eyebrow, Downslanted palpebral fissu... OMIM:619135
Pyoderma Gangrenosum
Increased circulating antibody level, Myositis, Rheumatoid arthritis, Inflammation of the large i... ORPHA:48104
Achondrogenesis, Type Ia
Stillbirth, Pulmonary hypoplasia OMIM:200600
Acquired Von Willebrand Syndrome
Prolonged prothrombin time, Gastrointestinal hemorrhage, Aortic regurgitation, Melena, Hypotensio... ORPHA:99147
Fryns Microphthalmia Syndrome
Bilateral cleft palate, Microphthalmia, Anophthalmia OMIM:600776
Attrv30M Amyloidosis
Cardiomegaly, Atrioventricular block, Cardiomyopathy, Arrhythmia ORPHA:85447
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 1
Pulmonary hypoplasia, Epicanthus OMIM:614080
Autoimmune Hypoparathyroidism
Prolonged QT interval, Chronic mucocutaneous candidiasis, Autoimmune hypoparathyroidism, Ventricu... ORPHA:36913
Autoimmune Hepatitis
Gastrointestinal hemorrhage, Increased circulating antibody level, Sclerosing cholangitis, Increa... ORPHA:2137
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly
Hepatomegaly, Protein-losing enteropathy, High palate, Death in infancy, Downslanted palpebral fi... OMIM:235255
Homocystinuria-Megaloblastic Anemia, Cblg Complementation Type
Respiratory failure, Jaundice, Respiratory distress OMIM:250940
Silver-Russell Syndrome Due To 7P11.2P13 Microduplication
High anterior hairline, Long eyelashes, Feeding difficulties in infancy, Fine hair, Small for ges... ORPHA:231137
Atrial Septal Defect, Coronary Sinus Type
Exertional dyspnea, Cyanosis, Dyspnea, Pneumonia, Anomalous pulmonary venous return ORPHA:99104
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9
Cataract, Buphthalmos, Microphthalmia, Retinal dystrophy OMIM:616538
Livedoid Vasculopathy
Polycythemia, Anemia, Leukocytosis, Pancytopenia ORPHA:542643
Immunodeficiency 48
Panhypogammaglobulinemia, Chronic diarrhea, Eczematoid dermatitis, Failure to thrive, Pneumonia OMIM:269840
Pontocerebellar Hypoplasia, Type 17
Limb hypertonia, Gastroesophageal reflux, Secundum atrial septal defect, Low anterior hairline, D... OMIM:619909
Waardenburg Syndrome, Type 4A
Hypopigmented skin patches, Premature graying of hair, Aganglionic megacolon, Heterochromia iridi... OMIM:277580
Behçet Disease
Gastrointestinal hemorrhage, Optic neuritis, Cerebral ischemia, Retinopathy, Pericarditis, Spleno... ORPHA:117
Radio-Tartaglia Syndrome
High anterior hairline, High, narrow palate, Gastroesophageal reflux, Small nail, Highly arched e... OMIM:619312
Mitochondrial Dna Depletion Syndrome 1 (Mngie Type)
Intermittent diarrhea, Gastroparesis, Intestinal pseudo-obstruction, Cachexia, Dysphagia, Early s... OMIM:603041
Goldberg-Shprintzen Syndrome
Aganglionic megacolon, Corneal erosion, Limb hypertonia, Telecanthus, Highly arched eyebrow, Corn... OMIM:609460
Renal Agenesis
Pulmonary hypoplasia ORPHA:411709
Ectopia Lentis Et Pupillae
Iris transillumination defect, Retinal detachment, Persistent pupillary membrane, Ectopia lentis,... OMIM:225200
Chromosome 5Q12 Deletion Syndrome
Astigmatism, Patent foramen ovale, Hypotension, Long palpebral fissure, Ptosis, Epicanthus, Atria... OMIM:615668
Short-Rib Thoracic Dysplasia 5 With Or Without Polydactyly
Chronic tubulointerstitial nephritis, Hepatomegaly, Inguinal hernia, Attenuation of retinal blood... OMIM:614376
Sick Sinus Syndrome 2
Paroxysmal atrial fibrillation, Sick sinus syndrome, Aortic regurgitation, Atrial fibrillation, P... OMIM:163800
Nodular Lymphocyte Predominant Hodgkin Lymphoma
Anorexia, Weight loss ORPHA:86893
Knobloch Syndrome 1
Iris transillumination defect, Alopecia of scalp, Telecanthus, Retinal detachment, Band keratopat... OMIM:267750
Nasolacrimal Duct Cyst
Chronic irritative conjunctivitis, Intercostal retractions, Abnormal lacrimal sac morphology, Ect... ORPHA:141083
Smith-Lemli-Opitz Syndrome
Congenital diaphragmatic hernia, Optic atrophy, Aganglionic megacolon, Downslanted palpebral fiss... ORPHA:818
Lymphoid Interstitial Pneumonia
Dyspnea, Bronchiectasis, Hypoxemia, Respiratory tract infection, Pulmonary fibrosis, Multiple pul... ORPHA:79128
Papa Syndrome
Increased circulating antibody level, Myositis, Crohn's disease, Arthritis, Pustule, Acne, Increa... ORPHA:69126
Monosomy 13Q14
Microphthalmia, Abnormality of the gastrointestinal tract, Retinoblastoma, Ptosis, Epicanthus, Ca... ORPHA:1587
Immunodeficiency, Common Variable, 12, With Autoimmunity
Decreased circulating antibody level, Recurrent pneumonia, Recurrent sinusitis, Atrophic gastriti... OMIM:616576
Flynn-Aird Syndrome
Cataract, Rod-cone dystrophy, Alopecia ORPHA:2047
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked
Alopecia, Arthritis, Eczematoid dermatitis, Hepatitis, Erythroderma, Glomerulonephritis, Ileus, V... OMIM:304790
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome
Atelectasis, Respiratory distress, Respiratory insufficiency, Repeated pneumothoraces, Pulmonary ... ORPHA:536467
Benign Recurrent Intrahepatic Cholestasis
Anorexia, Pancreatitis, Abdominal pain, Chronic diarrhea, Hepatocellular carcinoma, Nausea and vo... ORPHA:65682
Stevens-Johnson Syndrome
Gastrointestinal hemorrhage, Entropion, Corneal erosion, Pancreatitis, Abnormal myocardium morpho... ORPHA:36426
Dracunculiasis
Diarrhea, Arthritis, Skin rash, Nausea and vomiting, Recurrent cutaneous abscess formation, Pruritus ORPHA:231
Li-Ghorbani-Weisz-Hubshman Syndrome
Telecanthus, Epicanthus, Atrial septal defect, Ventricular septal defect, Upslanted palpebral fis... OMIM:618974
Congenital Heart Defects, Multiple Types, 6
Transposition of the great arteries, Total anomalous pulmonary venous return, Pulmonic stenosis, ... OMIM:613854
Hereditary Methemoglobinemia
Exertional dyspnea, Cyanosis ORPHA:621
Autosomal Dominant Optic Atrophy, Classic Form
Optic atrophy, Temporal optic disc pallor, Ptosis, Dysphagia, Morning glory anomaly, Cataract ORPHA:98673
Arthrogryposis Multiplex Congenita 6
Respiratory failure, Death in childhood, Neonatal death, Death in infancy OMIM:619334
Aortic Aneurysm, Familial Thoracic 4
Bicuspid aortic valve, Abnormal left ventricular function, Aortic regurgitation, Abnormal iris pi... OMIM:132900
Osteoporosis-Pseudoglioma Syndrome
Microphthalmia, Retinal calcification, Vitreoretinopathy, Exudative retinopathy, Iris atrophy, Ab... OMIM:259770
Achromatopsia 3
Cataract OMIM:262300
Anemia, Congenital Dyserythropoietic, Type Ia
Macrocytic dyserythropoietic anemia, Anemia of inadequate production, Bite cells, Reticulocytosis... OMIM:224120
Mungan Syndrome
Bilateral ptosis, Perimembranous ventricular septal defect, Intestinal pseudo-obstruction, Barret... OMIM:611376
Premature Ovarian Failure 12
Macular dystrophy, Microphthalmia OMIM:616947
Miller-Dieker Lissencephaly Syndrome
Inguinal hernia, Duodenal atresia, Camptodactyly, Omphalocele, Abnormal heart morphology, Cleft p... OMIM:247200
Intrahepatic Cholestasis Of Pregnancy
Abnormal pineal melatonin secretion, Palmar pruritus, Pruritus on foot, Abdominal pain, Abnormal ... ORPHA:69665
Mitochondrial Complex Iv Deficiency, Nuclear Type 13
Aortic regurgitation, Reduced left ventricular ejection fraction, Hypertrophic cardiomyopathy, Tr... OMIM:616501
Waardenburg Syndrome, Type 2A
Premature graying of hair, Numerous pigmented freckles, Heterochromia iridis, Synophrys, White fo... OMIM:193510
Xy Type Gonadal Dysgenesis-Associated Anomalies Syndrome
Downslanted palpebral fissures, Cleft palate, Abnormal hair pattern, Epicanthus, Umbilical hernia... ORPHA:1770
Arrhythmogenic Right Ventricular Dysplasia, Familial, 12
Right ventricular cardiomyopathy, Woolly hair, Ventricular arrhythmia, Ventricular tachycardia, P... OMIM:611528
Coloboma, Ocular, Autosomal Recessive
Retinal coloboma, Optic disc coloboma, Cataract, Lens subluxation, Iris coloboma OMIM:216820
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 2
Respiratory failure requiring assisted ventilation, Pulmonary hypoplasia OMIM:619351
Limb Body Wall Complex
Congenital diaphragmatic hernia, Ectopia cordis, Ventral hernia, Abnormal intestine morphology, C... ORPHA:2369
Dyskeratosis Congenita, Autosomal Recessive 8
Nail dystrophy, Pancolitis, Sparse scalp hair, Inflammation of the large intestine, Oral leukopla... OMIM:620133
Ehlers-Danlos Syndrome, Musculocontractural Type, 1
Intestinal malrotation, Abnormal duodenum morphology, Mitral valve prolapse, Umbilical hernia, As... OMIM:601776
Coffin-Siris Syndrome 7
Recurrent otitis media, Hypoplastic fifth toenail, Patent foramen ovale, Sparse scalp hair, Downs... OMIM:618027
Hydrocephalus-Obesity-Hypogonadism Syndrome
High, narrow palate, Low posterior hairline, Obesity, Mitral valve prolapse, Sparse facial hair, ... ORPHA:2183
Microphthalmia, Isolated 4
Microphthalmia, Absent testis, Coloboma OMIM:613094
Carey-Fineman-Ziter Syndrome 1
Gastroesophageal reflux, Glossoptosis, High palate, Pulmonary arterial hypertension, Ptosis, Down... OMIM:254940
Marshall Syndrome
Abnormal vitreous humor morphology, Retinal detachment, Vitreoretinopathy, High palate, Sparse ey... ORPHA:560
Chromosome 1P36 Deletion Syndrome, Proximal
Atrial septal defect, Wolff-Parkinson-White syndrome, Broad eyebrow, Coronary artery fistula, Pat... OMIM:619343
Oculogastrointestinal Muscular Dystrophy
Abdominal distention, Abnormality of the gastrointestinal tract, Gastroparesis, Intestinal pseudo... ORPHA:1876
Bardet-Biedl Syndrome 1
High, narrow palate, Bone spicule pigmentation of the retina, Astigmatism, Aganglionic megacolon,... OMIM:209900
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome
Optic atrophy, Ischemic stroke, Gastroesophageal reflux, Broad lateral eyebrow, Optic nerve hypop... ORPHA:500150
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome
Microphthalmia, Nail dystrophy, Small nail, Thyroid hypoplasia, Bifid uvula, Lacrimal duct aplasi... OMIM:620186
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy
Hypoventilation, Atelectasis, Recurrent lower respiratory tract infections, Respiratory insuffici... ORPHA:258
Hypercalcemia, Infantile, 1
Vomiting, Failure to thrive, Hypercalcemia, Weight loss OMIM:143880
Hereditary Acrokeratotic Poikiloderma
Ectropion, Nail dystrophy, Dystrophic fingernails, Abnormality of the gastrointestinal tract, Dys... ORPHA:2907
Mend Syndrome
Anterior polar cataract, High palate, Aortic valve stenosis, Cataract, Narrow palpebral fissure, ... OMIM:300960
Chronic Actinic Dermatitis
Late onset atopic dermatitis, Allergic rhinitis, Eczematoid dermatitis, Erythroderma, Pruritus ORPHA:330064
Teebi-Shaltout Syndrome
Microphthalmia, High, narrow palate, Telecanthus, Highly arched eyebrow, Slow-growing hair, Campt... OMIM:272950
Mulibrey Nanism
Cachexia ORPHA:2576
Aortic Arch Interruption
Blood pressure substantially higher in arms than legs, Aortopulmonary window, Hypertension, Abnor... ORPHA:2299
Ichthyosis Prematurity Syndrome
Erythroderma, Alopecia of scalp, Pruritus, Allergic rhinitis OMIM:608649
Thanatophoric Dysplasia Type 1
Respiratory insufficiency, Excessive wrinkled skin, Aplasia/Hypoplasia of the lungs ORPHA:1860
Treacher-Collins Syndrome
Microphthalmia, Rectovaginal fistula, Abnormal hair morphology, Abnormal dental enamel morphology... ORPHA:861
Zellweger-Like Syndrome Without Peroxisomal Anomalies
Failure to thrive, High palate, Alopecia, Brittle hair ORPHA:50812
Atrial Septal Defect, Ostium Primum Type
Exertional dyspnea, Cyanosis, Recurrent respiratory infections, Dyspnea, Tachypnea, Pulmonary art... ORPHA:99106
Mitochondrial Dna Depletion Syndrome 13 (Encephalomyopathic Type)
Gastroesophageal reflux, Hypertrophic cardiomyopathy, Downslanted palpebral fissures, Thick eyebr... OMIM:615471
Apolipoprotein A-I Deficiency
Angina pectoris, Opacification of the corneal stroma, Xanthelasma ORPHA:425
Arthrogryposis-Like Hand Anomaly-Sensorineural Deafness Syndrome
Cachexia ORPHA:1144
Albinism, Oculocutaneous, Type Ii
Red hair, Hypopigmentation of hair, Hypopigmentation of the skin, Albinism, Blue irides, Freckles... OMIM:203200
Anemia, Congenital Dyserythropoietic, Type Iv
Reduced hematocrit, Anemia, Anemia of inadequate production, Persistence of hemoglobin F, Reticul... OMIM:613673
Mevalonic Aciduria
Morbilliform rash, Fluctuating splenomegaly, Skin rash, Downslanted palpebral fissures, Attenuati... OMIM:610377
Coffin-Lowry Syndrome
Optic atrophy, Narrow palate, Abnormal aortic valve morphology, Abnormal tricuspid valve morpholo... ORPHA:192
Brain Small Vessel Disease 1 With Or Without Ocular Anomalies
Ischemic stroke, Corneal neovascularization, Astigmatism, Polycoria, Microphthalmia, Microcornea,... OMIM:175780
Xeroderma Pigmentosum
Optic atrophy, Ectropion, Entropion, Pterygium, Alopecia, Conjunctival telangiectasia, Blephariti... ORPHA:910
Combined Oxidative Phosphorylation Deficiency 52
Respiratory failure, Death in infancy OMIM:619386
Neurodevelopmental Disorder With Hypotonia, Neonatal Respiratory Insufficiency, And Thermodysregulation
High anterior hairline, Protruding tongue, Horizontal eyebrow, Low anterior hairline, Thick eyebr... OMIM:618797
Hermansky-Pudlak Syndrome 7
Impaired platelet aggregation, Prolonged bleeding time OMIM:614076
Danon Disease
Congestive heart failure, Wolff-Parkinson-White syndrome, Lower limb amyotrophy, Syncope, Myocard... OMIM:300257
Microcephaly-Thin Corpus Callosum-Intellectual Disability Syndrome
Bicuspid aortic valve ORPHA:397951
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 8
Premature graying of hair, Usual interstitial pneumonia, Dyspnea, Pulmonary fibrosis OMIM:620367
Microcephaly-Capillary Malformation Syndrome
Small nail, Patent foramen ovale, Ptosis, Cleft palate, Right ventricular hypertrophy, Atrial sep... OMIM:614261
Oculoskeletodental Syndrome
Hepatomegaly, Protein-losing enteropathy, Elbow flexion contracture, Low posterior hairline, Low ... OMIM:618440
Polyneuropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa, And Cataract
Optic atrophy, Subcapsular cataract, Achilles tendon contracture, Cataract, Rod-cone dystrophy OMIM:612674
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Narrow palate, Hypoplastic toenails, Enlarged kidney, Hepatomegaly, Antenatal intracerebral hemor... OMIM:608836
Weaver Syndrome
Thin nail, Inguinal hernia, Deep-set nails, Camptodactyly of finger, Downslanted palpebral fissur... ORPHA:3447
Thoracoabdominal Syndrome
Pulmonary hypoplasia OMIM:313850
Intellectual Developmental Disorder, Autosomal Dominant 44, With Microcephaly
Frontal upsweep of hair, Hirsutism, Scapular winging, High palate, Synophrys, Ptosis, Downslanted... OMIM:617061
Mitochondrial Dna Depletion Syndrome 20 (Mngie Type)
Cataract, Macular degeneration, Dysphagia, Intestinal pseudo-obstruction OMIM:619780
Revesz Syndrome
Nail dystrophy, Exudative retinopathy, Megalocornea, Nail pits, Oral leukoplakia, Ridged fingerna... OMIM:268130
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome
Congestive heart failure, Atrial flutter, Abnormal atrioventricular valve morphology, Tricuspid r... ORPHA:324410
Alopecia-Intellectual Disability Syndrome 4
Erythroderma, Bilateral cryptorchidism, Alopecia OMIM:618840
Neonatal Marfan Syndrome
Abnormal cardiac ventricle morphology, Tricuspid valve prolapse, Downslanted palpebral fissures, ... ORPHA:284979
Yunis-Varon Syndrome
Microphthalmia, Hypertension, Cardiomyopathy, Glossoptosis, Aplasia/Hypoplasia of the nails, Card... ORPHA:3472
Fallot Complex-Intellectual Disability-Growth Delay Syndrome
Recurrent otitis media, High palate, Pulmonic stenosis, Frontal hirsutism, Downslanted palpebral ... ORPHA:3304
Oculopharyngodistal Myopathy
High, narrow palate, Oral-pharyngeal dysphagia, High palate, Impaired oropharyngeal swallow respo... ORPHA:98897
Mucopolysaccharidosis, Type Iiia
Hepatomegaly, Inguinal hernia, Hirsutism, Synophrys, Asymmetric septal hypertrophy, Splenomegaly,... OMIM:252900
Neuropathy, Hereditary Sensory And Autonomic, Type Ia
Cataract, Foot osteomyelitis, Osteomyelitis OMIM:162400
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome
Microphthalmia, Patent foramen ovale, Pulmonary arterial hypertension, Portal hypertension, Absen... OMIM:620005
Keutel Syndrome
Recurrent otitis media, Pulmonary arterial hypertension, Pulmonary artery stenosis, Recurrent sin... ORPHA:85202
X-Linked Alport Syndrome-Diffuse Leiomyomatosis
Esophageal neoplasm, Gastroesophageal reflux, Abnormal gastrointestinal tract morphology, Abnorma... ORPHA:1018
Congenital Muscular Dystrophy With Intellectual Disability And Severe Epilepsy
Recurrent respiratory infections, Respiratory distress ORPHA:329178
Polyarteritis Nodosa
Abnormality of the gastrointestinal tract, Elevated circulating C-reactive protein concentration,... ORPHA:767
Skin Creases, Congenital Symmetric Circumferential, 2
Short palpebral fissure, Microphthalmia, Microcornea, Synophrys, Ptosis, Downslanted palpebral fi... OMIM:616734
Pentalogy Of Cantrell
Pulmonary hypoplasia ORPHA:1335
Calcific Aortic Disease With Immunologic Abnormalities, Familial
Aortic valve stenosis, Aortic valve calcification OMIM:114065
Neutrophilic Dermatosis, Acute Febrile
Panniculitis, Increased circulating interleukin 6 concentration, Elevated circulating C-reactive ... OMIM:608068
Congenital Total Pulmonary Venous Return Anomaly
Respiratory failure requiring assisted ventilation, Infracardiac total anomalous pulmonary venous... ORPHA:99125
Squalene Synthase Deficiency
Elbow flexion contracture, Abnormality of hair pigmentation, Epicanthus, Knee flexion contracture... OMIM:618156
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 28
Respiratory failure requiring assisted ventilation, Respiratory insufficiency, Respiratory insuff... OMIM:620375
Williams Syndrome
Chronic otitis media, Hypertension, Corneal opacity, Cerebral ischemia, Tracheoesophageal fistula... ORPHA:904
Distal 22Q11.2 Microduplication Syndrome
Tricuspid valve prolapse, Palpebral edema, Downslanted palpebral fissures, Epicanthus, Ventricula... ORPHA:261337
Pachyonychia Congenita 2
Nail dysplasia, Nail dystrophy, Sparse scalp hair, Folliculitis, Angular cheilitis, Sparse eyebro... OMIM:167210
Fanconi Anemia, Complementation Group S
Narrow palate, Microphthalmia, Ovarian neoplasm, Long eyelashes, Low anterior hairline, Epicanthu... OMIM:617883
Spherocytosis, Type 1
Spherocytosis, Splenomegaly, Hemolytic anemia, Reticulocytosis OMIM:182900
Indomethacin Embryofetopathy
Atrial septal defect, Ventricular septal defect, Cardiomyopathy ORPHA:1909
Macrocephaly, Neurodevelopmental Delay, Lymphoid Hyperplasia, And Persistent Fetal Hemoglobin
Astigmatism, Gastroesophageal reflux, Umbilical hernia, Recurrent pneumonia, Recurrent upper resp... OMIM:619769
Dyskeratosis Congenita
Premature graying of hair, Nail dystrophy, Neoplasm of the pancreas, Anorectal anomaly, Aplastic/... ORPHA:1775
Cerebrooculofacioskeletal Syndrome 4
Bilateral microphthalmos, Flexion contracture of toe, Knee flexion contracture, Elbow flexion con... OMIM:610758
Behcet Syndrome
Iritis, Hypopyon, Arthritis, Chorioretinitis, Patchy alopecia, Raynaud phenomenon, Epididymitis, ... OMIM:109650
Acquired Methemoglobinemia
Hypoxemia, Cyanosis, Dyspnea, Respiratory distress ORPHA:464453
Blepharophimosis-Intellectual Disability Syndrome, Ohdo Type
Microphthalmia, Recurrent otitis media, Ptosis, Cleft palate, Heart murmur, Atrial septal defect,... ORPHA:2728
Amyloidosis Of Gingiva And Conjunctiva With Impaired Intellectual Development
Opacification of the corneal stroma OMIM:204850
Glut1 Deficiency Syndrome 2
Splenomegaly, Hemolytic anemia, Reticulocytosis OMIM:612126
Deafness-Intellectual Disability Syndrome, Martin-Probst Type
Telecanthus, Telangiectasia of the skin, Epicanthus, Umbilical hernia, Cataract, Cryptorchidism, ... ORPHA:85321
Cochleosaccular Degeneration-Cataract Syndrome
Cataract ORPHA:3233
Multiple Mitochondrial Dysfunctions Syndrome 3
Respiratory insufficiency, Respiratory failure OMIM:615330
Autosomal Recessive Cutis Laxa Type 2A
Inguinal hernia, Abnormal cornea morphology, Downslanted palpebral fissures, Thick hair ORPHA:357058
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7
Microphthalmia, Retinal dysplasia, Retinal detachment, Optic nerve hypoplasia, Remnants of the hy... OMIM:614643
Blomstrand Lethal Chondrodysplasia
Pulmonary hypoplasia, Telecanthus ORPHA:50945
Idiopathic Hypereosinophilic Syndrome
Myocardial eosinophilic infiltration, Splenomegaly, Dysphagia, Cholangitis, Supraventricular arrh... ORPHA:3260
Succinic Acidemia
Respiratory distress OMIM:600335
Eec Syndrome
Nail dystrophy, Decreased response to growth hormone stimulation test, Entropion, Corneal erosion... ORPHA:1896
Kniest Dysplasia
Bilateral ptosis, Aplasia/Hypoplasia of the lens, Retinal detachment, Lens luxation, Vitreoretino... ORPHA:485
Neurodevelopmental Disorder With Spastic Quadriplegia And Brain Abnormalities With Or Without Seizures
Respiratory distress OMIM:617977
Griscelli Syndrome
Premature graying of hair, Hypopigmented skin patches, Hepatomegaly, Encephalocele, Silver-gray h... ORPHA:381
Beck-Fahrner Syndrome
Facial hypotonia, High palate, Ptosis, Cardiomegaly, Lacrimal duct stenosis, Ventricular septal d... OMIM:618798
Fontaine Progeroid Syndrome
Pneumothorax, Short palpebral fissure, Premature skin wrinkling, Aplastic/hypoplastic lacrimal gl... OMIM:612289
Sapho Syndrome
Steatorrhea, Chronic diarrhea, Skin rash, Abdominal pain, Arthritis, Synovitis, Palmoplantar pust... ORPHA:793
Solitary Median Maxillary Central Incisor
Cyclopia, Microphthalmia, Decreased response to growth hormone stimulation test, Anterior hypopit... OMIM:147250
Carnitine Deficiency, Systemic Primary
Congestive heart failure, Hepatomegaly, Reduced muscle carnitine level, Cardiomyopathy, Hypertrop... OMIM:212140
Immunodeficiency 85 And Autoimmunity
Villous atrophy, Decreased circulating IgE, Tube feeding, Chronic diarrhea, Eczematoid dermatitis... OMIM:619510
Aymé-Gripp Syndrome
Congenital diaphragmatic hernia, Bilateral ptosis, Breast hypoplasia, Inguinal hernia, Megalocorn... ORPHA:1272
Xeroderma Pigmentosum, Complementation Group B
Optic atrophy, Microphthalmia, Cataract, Pigmentary retinopathy OMIM:610651
Ehlers-Danlos Syndrome, Vascular Type
Hemothorax, Alopecia of scalp, Inguinal hernia, Periodontitis, Keratoconus, Cigarette-paper scars... OMIM:130050
Ectodermal Dysplasia 13, Hair/Tooth Type
Sparse eyelashes, Low anterior hairline, Thin eyebrow, Brittle hair OMIM:617392
Combined Oxidative Phosphorylation Deficiency 10
Bradycardia, Pleural effusion, Hypertrophic cardiomyopathy, Pericardial effusion, Cardiomegaly OMIM:614702
Intellectual Developmental Disorder, X-Linked 99, Syndromic, Female-Restricted
Short palpebral fissure, Astigmatism, Unilateral breast hypoplasia, Anal atresia, Bifid uvula, Cl... OMIM:300968
Intellectual Developmental Disorder With Speech Delay And Dysmorphic Facies
Ventricular septal defect, Epicanthus OMIM:618506
Combined Oxidative Phosphorylation Deficiency 30
Respiratory distress, Death in infancy OMIM:616974
Ogden Syndrome
High, narrow palate, Inguinal hernia, Cryptorchidism, Downslanted palpebral fissures, Cardiogenic... ORPHA:276432
Bloom Syndrome
Cutaneous photosensitivity, Bronchitis, Sparse eyelashes, Respiratory tract infection, Pneumonia,... ORPHA:125
Cortisone Reductase Deficiency 1
Acne, Obesity, Hirsutism, Alopecia OMIM:604931
Ethylene Glycol Poisoning
Pulmonary edema, Cyanosis, Abnormal pattern of respiration, Tachypnea, Episodic respiratory distress ORPHA:31826
Cockayne Syndrome B
Optic atrophy, Dry hair, Microphthalmia, Hepatomegaly, Abnormal hair morphology, Microcornea, Hyp... OMIM:133540
Mitochondrial Complex Iv Deficiency, Nuclear Type 1
Exertional dyspnea, Death in childhood, Respiratory distress, Ptosis, Respiratory insufficiency d... OMIM:220110
Congenital Heart Defects, Multiple Types, 9
Transposition of the great arteries, Truncus arteriosus, Pulmonic stenosis, Single ventricle of i... OMIM:620294
Elejalde Neuroectodermal Melanolysosomal Syndrome
Death in childhood, Silver-gray hair, Melanin pigment aggregation in hair shafts, Hypopigmentatio... OMIM:256710
Severe Microbrachycephaly-Intellectual Disability-Athetoid Cerebral Palsy Syndrome
Microphthalmia, Telecanthus, Camptodactyly of finger, Supernumerary nipple, Iris coloboma ORPHA:1236
3-Phosphoglycerate Dehydrogenase Deficiency, Infantile/Juvenile Form
Gastroesophageal reflux, Inguinal hernia, Abnormality of hair texture, Esophagitis, Developmental... ORPHA:79351
Fetal Akinesia Deformation Sequence 1
Short palpebral fissure, Stillbirth, Telecanthus, Ptosis, Pulmonary hypoplasia, Blepharophimosis OMIM:208150
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta
Chronic oral candidiasis, Erythroderma, Recurrent pneumonia, Hepatosplenomegaly, Otitis media, Pn... ORPHA:169160
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb
Microphthalmia, Nuclear pulverulent cataract, Sutural cataract, Highly arched eyebrow, Bifid uvul... OMIM:612474
Prune Belly Syndrome
Recurrent respiratory infections, Aplasia/Hypoplasia of the lungs ORPHA:2970
Mosaic Variegated Aneuploidy Syndrome 2
Abnormal lung lobation, Short palpebral fissure, Aortic regurgitation, Blepharophimosis, Cafe-au-... OMIM:614114
Hyper-Ige Syndrome 2, Autosomal Recessive, With Recurrent Infections
Recurrent otitis media, Sclerosing cholangitis, Increased circulating IgG level, Increased circul... OMIM:243700
Filippi Syndrome
Frontal hirsutism, Ventricular septal defect, Hypertrichosis, Sparse hair OMIM:272440
Nanophthalmos 4
Optic disc drusen, Microphthalmia OMIM:615972
Noonan Syndrome 12
Atopic dermatitis, Tetralogy of Fallot, Ventricular septal defect, Anteriorly placed anus, Suprav... OMIM:618624
Microcephaly, Facial Dysmorphism, Renal Agenesis, And Ambiguous Genitalia Syndrome
Highly arched eyebrow, Ventricular septal defect, High palate, Atrial septal defect, Hypoplastic ... OMIM:618142
Norrie Disease
Abnormal chorioretinal morphology, Optic atrophy, Microphthalmia, Abnormal vitreous humor morphol... ORPHA:649
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Jaundice, Respiratory distress, Pneumonia, Tachypnea, Episodic tachypnea ORPHA:26793
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation
Diarrhea, Crohn's disease, Arthritis, Decreased circulating antibody level, Eczematoid dermatitis... OMIM:616100
Skraban-Deardorff Syndrome
Sparse lateral eyebrow, Ventricular septal defect, Cleft palate, Recurrent otitis media OMIM:617616
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of
Hepatomegaly, Gastroesophageal reflux, Reduced left ventricular ejection fraction, Necrotizing en... OMIM:201475
Immunodeficiency 40
Intermittent diarrhea, Chronic oral candidiasis, Rectal fistula, Recurrent otitis media, Focal ac... OMIM:616433
Blau Syndrome
Skin rash, Hypertension, Abnormal optic nerve morphology, Retinopathy, Pericarditis, Splenomegaly... ORPHA:90340
Muscular Dystrophy, Congenital, 1B
Respiratory failure OMIM:604801
Hydrolethalus
Microphthalmia, Anophthalmia, Bifid uvula, Cleft palate, Submucous cleft hard palate, Cryptorchidism ORPHA:2189
Charcot-Marie-Tooth Disease Type 4B2
Optic atrophy, Developmental glaucoma, Ptosis, Cataract, Buphthalmos, Tongue atrophy ORPHA:99956
Homocystinuria Due To Cystathionine Beta-Synthase Deficiency
Optic atrophy, Gastrointestinal hemorrhage, Hepatomegaly, Retinal detachment, Hypertension, Esoph... ORPHA:394
Aniridia And Absent Patella
Cataract, Aniridia OMIM:106220
Lipodystrophy Due To Peptidic Growth Factors Deficiency
Premature graying of hair, Abnormal circulating lipid concentration, Abnormal hair morphology, Ca... ORPHA:1979
Peroxisome Biogenesis Disorder 4A (Zellweger)
Respiratory failure, Upslanted palpebral fissure, Epicanthus inversus, Death in infancy OMIM:614862
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2
Microphthalmia, Persistent pupillary membrane, Congenital contracture, Cleft palate, Cataract, Bu... OMIM:613150
Antisynthetase Syndrome
Myocarditis, Aortic regurgitation, Myositis, Xerostomia, Skin rash, Arthritis, Pulmonary arterial... ORPHA:81
Generalized Pustular Psoriasis
Congestive heart failure, Cheilitis, Abnormality of the nail, Arthritis, Geographic tongue, Palmo... ORPHA:247353
Ruijs-Aalfs Syndrome
Premature graying of hair, Posterior subcapsular cataract, Elbow flexion contracture, Hepatocellu... OMIM:616200
Short Chain Acyl-Coa Dehydrogenase Deficiency
Respiratory distress ORPHA:26792
Lathosterolosis
Hepatomegaly, Microcornea, High palate, Ptosis, Downslanted palpebral fissures, Epicanthus, Catar... ORPHA:46059
Hartsfield Syndrome
Microphthalmia, Telecanthus, Ptosis, Downslanted palpebral fissures, Cleft palate ORPHA:2117
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome
Perimembranous ventricular septal defect, Hepatomegaly, Cholelithiasis, Inguinal hernia, Seborrhe... ORPHA:83617
Combined Oxidative Phosphorylation Defect Type 23
Respiratory failure, Paroxysmal dyspnea, Cyanosis ORPHA:444013
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia
Rickets, Reticulocytosis, Hepatosplenomegaly, Decreased mean corpuscular volume, Hemolytic anemia OMIM:611590
Autoinflammation, Immune Dysregulation, And Eosinophilia
Eosinophilic liver infiltration, Atopic dermatitis, Failure to thrive, Colonic eosinophilia, Memb... OMIM:618999
Trigonocephaly With Short Stature And Developmental Delay
Ventricular septal defect, High palate, Epicanthus OMIM:314320
Ige Responsiveness, Atopic
Increased circulating IgE level, Allergic rhinitis, Eczematoid dermatitis OMIM:147050
Oculoauriculovertebral Spectrum With Radial Defects
Aplasia/Hypoplasia of the lungs ORPHA:2549
Oculocerebrorenal Syndrome Of Lowe
Chronic otitis media, Microphthalmia, Cheilitis, Corneal opacity, Umbilical hernia, Fine hair, Ch... ORPHA:534
Intellectual Developmental Disorder, Autosomal Recessive 79
Ventricular septal defect, Eczematoid dermatitis OMIM:620393
Progeroid Syndrome, Petty Type
Brittle hair, Abnormality of the nail, Abnormal hair morphology, Failure to thrive, Generalized h... ORPHA:2963
Aorta Coarctation
Perimembranous ventricular septal defect, Cardiomegaly, Abnormal left ventricular outflow tract m... ORPHA:1457
Amaurosis-Hypertrichosis Syndrome
Optic atrophy, Retinal dystrophy, Abnormal eyelash morphology, Synophrys, Cone/cone-rod dystrophy... ORPHA:1021
Congenital Disorder Of Glycosylation, Type Iy
Respiratory distress OMIM:300934
Cataracts, Spastic Paraparesis, And Speech Delay
Cataract OMIM:619338
Ciliary Dyskinesia, Primary, 52
Situs inversus totalis, Transposition of the great arteries, Patent foramen ovale, Ventricular se... OMIM:620570
Short Syndrome
Lipoatrophy, Astigmatism, Telecanthus, Inguinal hernia, Megalocornea, Rieger anomaly, Reduced sub... OMIM:269880
Yuan-Harel-Lupski Syndrome
Clinodactyly of the 5th finger, Sandal gap, Upslanted palpebral fissure, Downslanted palpebral fi... OMIM:616652
Mosaic Variegated Aneuploidy Syndrome 1
Pulmonic stenosis, Cleft palate, Epicanthus, Cataract, Atrial septal defect, Cryptorchidism, Upsl... OMIM:257300
Alport Syndrome 2, Autosomal Recessive
Corneal erosion, Hypertension, Nephritis, Cataract, Anterior lenticonus OMIM:203780
Juvenile Polyposis/Hereditary Hemorrhagic Telangiectasia Syndrome
Hematochezia, Epistaxis, Mitral valve prolapse, Mitral regurgitation, Cerebral arteriovenous malf... OMIM:175050
Ehlers-Danlos Syndrome, Hypermobility Type
Mitral valve prolapse OMIM:130020
Dubowitz Syndrome
Rectal prolapse, Anal stenosis, Hypoparathyroidism, Telecanthus, High palate, Sparse scalp hair, ... ORPHA:235
Inverted Duplicated Chromosome 15 Syndrome
High palate, Synophrys, Downslanted palpebral fissures, Tetralogy of Fallot, Epicanthus, Ventricu... ORPHA:3306
Mosaic Trisomy 16
Abnormal lung morphology, Pulmonary hypoplasia ORPHA:1708
Epidermolysis Bullosa, Junctional 5B, With Pyloric Atresia
Nail dysplasia, Ectropion, Axillary pterygium, Nail dystrophy, Esophageal atresia, Atrophic scars... OMIM:226730
Woods Syndrome
Hypoplastic fifth toenail, Broad nail, Frontal hirsutism, Ventricular septal defect, Supernumerar... OMIM:615236
Congenital Disorder Of Glycosylation, Type Ig
Respiratory distress, Recurrent pneumonia, Epicanthus, Recurrent upper respiratory tract infections OMIM:607143
Pagod Syndrome
Abnormality of the pulmonary artery, Pulmonary hypoplasia, Death in infancy, Pulmonary artery hyp... ORPHA:991
Trigonocephaly-Short Stature-Developmental Delay Syndrome
Ventricular septal defect, High palate, Epicanthus ORPHA:3369
Microcephaly-Cardiac Defect-Lung Malsegmentation Syndrome
Abnormal lung lobation, High, narrow palate, Truncus arteriosus, Cleft palate, Ventricular septal... ORPHA:2516
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome
Albinism, Hypopigmentation of the skin, Hypopigmentation of hair ORPHA:2786
Noonan Syndrome
Coarse hair, Hepatomegaly, Abnormal hair quantity, High palate, Hypertrophic cardiomyopathy, Low ... ORPHA:648
Congenital Disorder Of Glycosylation, Type Ih
Perimembranous ventricular septal defect, Hepatomegaly, Protein-losing enteropathy, Camptodactyly... OMIM:608104
Spondyloocular Syndrome
Duodenal ulcer, Posterior subcapsular cataract, Retinal detachment, Dysplastic aortic valve, Low ... OMIM:605822
Otopalatodigital Syndrome Type 2
Downslanted palpebral fissures, Pulmonary hypoplasia ORPHA:90652
Isolated Ectopia Lentis
Cataract, Ectopia lentis, Hypertension, Ectopia pupillae ORPHA:1885
Breath-Holding Spells
Cyanosis OMIM:607578
Hermansky-Pudlak Syndrome 5
Absent platelet dense granules, Thrombocytopenia, Prolonged bleeding time, Impaired ADP-induced p... OMIM:614074
Budd-Chiari Syndrome
Intestinal obstruction, Gastrointestinal hemorrhage, Gastrointestinal infarctions, Abdominal pain... ORPHA:131
Nijmegen Breakage Syndrome
Cutaneous photosensitivity, Abnormal eyelid morphology, Recurrent pneumonia, Recurrent sinopulmon... ORPHA:647
Bernard-Soulier Syndrome
Macrothrombocytopenia, Giant platelets, Decreased platelet glycoprotein Ib-IX-V, Impaired ristoce... ORPHA:274
Piebaldism
Hypopigmented skin patches, Aganglionic megacolon, Hypopigmentation of hair, Piebald skin depigme... ORPHA:2884
Mu-Heavy Chain Disease
Increased circulating antibody level, Weight loss ORPHA:100024
Intermediate Nemaline Myopathy
Respiratory failure ORPHA:171433
Respiratory Infections, Recurrent, And Failure To Thrive With Or Without Diarrhea
Abnormal pulmonary interstitial morphology, Exertional dyspnea, Atelectasis, Recurrent lower resp... OMIM:620233
Ciliary Dyskinesia, Primary, 1
Chronic otitis media, Situs inversus totalis, Chronic rhinitis, Bronchiectasis, Pneumonia, Abnorm... OMIM:244400
Familial Cold Autoinflammatory Syndrome 1
Arthritis, Skin rash, Uveitis, Conjunctivitis OMIM:120100
Mitochondrial Complex I Deficiency, Nuclear Type 10
Respiratory failure, Apnea, Central hypoventilation OMIM:618233
Glanzmann Thrombasthenia
Prolonged bleeding time, Impaired ristocetin-induced platelet aggregation ORPHA:849
Aicardi Syndrome
Optic atrophy, Microphthalmia, Lipoma, Retinal detachment, Sparse lateral eyebrow, Cleft palate, ... OMIM:304050
Holzgreve Syndrome
Aplasia/Hypoplasia of the lungs ORPHA:2167
Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form With Methylmalonic Aciduria
Cachexia, Generalized hirsutism, Elevated circulating creatine kinase concentration ORPHA:1933
Goodpasture Syndrome
Exertional dyspnea, Reticular pattern on pulmonary HRCT, Cyanosis, Hemosiderin-laden macrophages ... OMIM:233450
Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects
Stillbirth, Pulmonary hypoplasia, Erythema OMIM:308050
Isolated Right Ventricular Hypoplasia
Abnormal atrioventricular conduction, Congestive heart failure, Muscular ventricular septal defec... ORPHA:439
Bosma Arhinia Microphthalmia Syndrome
Microphthalmia, Inguinal hernia, Lacrimal duct atresia, Coloboma, High palate, Synophrys, Cleft p... OMIM:603457
Renal Tubular Acidosis, Proximal, With Ocular Abnormalities And Impaired Intellectual Development
Cataract, Band keratopathy OMIM:604278
Renal-Hepatic-Pancreatic Dysplasia 1
Neonatal death, Pulmonary hypoplasia OMIM:208540
Tall Stature-Intellectual Disability-Renal Anomalies Syndrome
Enlarged kidney, Astigmatism, Abnormal right ventricle morphology, Inguinal hernia, Camptodactyly... ORPHA:500095
Watson Syndrome
Pulmonic stenosis, Lisch nodules, Epicanthus OMIM:193520
Diencephalic Syndrome
Cachexia, Decreased body weight ORPHA:1672
Tumor Necrosis Factor Receptor 1 Associated Periodic Syndrome
Intestinal obstruction, Myositis, Vasculitis, Skin rash, Arthritis, Pericarditis, Erysipelas, Orc... ORPHA:32960
Trichothiodystrophy 5, Nonphotosensitive
Brittle hair, Slow-growing hair, Chronic diarrhea, Tiger tail banding, Sparse eyebrow, Sparse hai... OMIM:300953
Acrorenal-Mandibular Syndrome
Downslanted palpebral fissures, Pulmonary hypoplasia, Epicanthus OMIM:200980
Autoinflammatory Disease, Systemic, With Vasculitis
Increased circulating interleukin 6 concentration, Elevated circulating C-reactive protein concen... OMIM:620376
Frank-Ter Haar Syndrome
Developmental glaucoma, Abnormally large globe, Patent foramen ovale, High palate, Megalocornea, ... OMIM:249420
Dysraphism-Cleft Lip/Palate-Limb Reduction Defects Syndrome
Anencephaly, Ectopic anus, Spina bifida, Cleft palate, Ventricular septal defect, Hypoplastic lef... ORPHA:2476
Intellectual Disability, Buenos-Aires Type
Hyperconvex thumb nails, High palate, Downslanted palpebral fissures, Abnormal fingernail morphol... ORPHA:3079
Premature Aging Syndrome, Okamoto Type
Cataract, Abnormal hair morphology OMIM:601811
Degcags Syndrome
Premature graying of hair, Microphthalmia, Low posterior hairline, Pulmonic stenosis, Abnormal ey... OMIM:619488
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome
Abnormal circulating interferon-gamma concentration, Diarrhea, Thyroiditis, Patent foramen ovale,... ORPHA:391487
Alexander Disease Type I
Vomiting, Cachexia, Failure to thrive, Dysphagia ORPHA:363717
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate
Nail dystrophy, Hyperpigmentation of the skin, Absent eyelashes, Lacrimal duct atresia, Patchy al... OMIM:106260
Intellectual Developmental Disorder, X-Linked, Syndromic 32
Cardiomegaly, Congestive heart failure OMIM:300886
Mucolipidosis Type Ii
Cardiomyopathy, Shallow orbits, Abnormal mitral valve morphology, Splenomegaly, Umbilical hernia,... ORPHA:576
Usher Syndrome
Astigmatism, Abnormal cardiovascular system physiology, Abnormal dental enamel morphology, Hypert... ORPHA:886
Complete Atrioventricular Septal Defect
Third heart sound, Left-to-right shunt, Cardiomegaly, Pulmonary venous hypertension, Abnormal car... ORPHA:1329
Bryant-Li-Bhoj Neurodevelopmental Syndrome 2
Genu valgum, Clinodactyly of the 5th finger, Prominent fingertip pads, Broad thumb, Arachnodactyl... OMIM:619721
Recombinant Chromosome 8 Syndrome
Low posterior hairline, Camptodactyly, Pulmonic stenosis, Tetralogy of Fallot, Double outlet righ... OMIM:179613
Codas Syndrome
Atrioventricular canal defect, Rectovaginal fistula, Gastroesophageal reflux, Anal atresia, Crypt... OMIM:600373
Primary Non-Essential Cutis Verticis Gyrata
Atrial septal defect, Ventricular septal defect, Developmental cataract ORPHA:357225
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome
Increased circulating IgE level, Hypoplasia of the thymus, Eczematoid dermatitis, Increased circu... OMIM:617241
Axial Mesodermal Dysplasia Spectrum
Limbal dermoid, Aplasia/Hypoplasia of the lungs ORPHA:1834
S-Adenosylhomocysteine Hydrolase Deficiency
Abnormal circulating homocysteine concentration, Abnormal circulating methionine concentration, H... ORPHA:88618
Ogden Syndrome
Pulmonary edema, Bilateral ptosis, Jaundice, Prematurely aged appearance, Abnormal eyelid morphol... OMIM:300855
Monosomy 18P
Microphthalmia, Hypertension, Low posterior hairline, Ptosis, Cleft palate, Epicanthus, Alopecia ORPHA:1598
Kallmann Syndrome-Heart Disease Syndrome
Cyanosis, Pulmonary artery hypoplasia ORPHA:2326
Hepatoerythropoietic Porphyria
Ectropion, Scarring, Loss of eyelashes, Corneal ulceration, Scarring alopecia of scalp, Keratocon... ORPHA:95159
Mitochondrial Complex Iv Deficiency, Nuclear Type 7
Ventricular hypertrophy, Tricuspid regurgitation, Pulmonary arterial hypertension, Hypertrophic c... OMIM:619051
Mitochondrial Complex I Deficiency, Nuclear Type 18
Respiratory failure, Death in infancy OMIM:618240
Tuberous Sclerosis Complex
Retinal hamartoma, Generalized abnormality of skin, Respiratory distress, Respiratory tract infec... ORPHA:805
Facial Clefting, Oblique, 1
Microphthalmia, Cleft palate, Coloboma OMIM:600251
Autoinflammatory Disease, Familial, Behcet-Like 3
Ileitis OMIM:618287
Neurofibromatosis Type 1
Multiple lipomas, Pheochromocytoma, Abnormal eyelid morphology, Hypertension, Corneal opacity, He... ORPHA:636
Joubert Syndrome 37
Microphthalmia, Hepatomegaly, High palate, Decreased testicular size, Ptosis, Sparse hair, Crypto... OMIM:619185
Short-Rib Thoracic Dysplasia 14 With Polydactyly
Pulmonary hypoplasia, Retinal coloboma OMIM:616546
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia
Elevated circulating C-reactive protein concentration, Skin rash, Bloody diarrhea, Failure to thr... OMIM:617718
Chromosome Xp11.3 Deletion Syndrome
Optic atrophy, Posterior subcapsular cataract, Attenuation of retinal blood vessels, Cataract, Cr... OMIM:300578
Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia
Hepatomegaly, Cleft palate, Splenomegaly, Recurrent skin infections, Recurrent respiratory infect... OMIM:620210
Loeys-Dietz Syndrome 1
Postaxial hand polydactyly, Bicuspid pulmonary valve, Camptodactyly, Postaxial polydactyly, Ptosi... OMIM:609192
Schimke Immunoosseous Dysplasia
Astigmatism, Hypertension, Transient ischemic attack, Cerebral ischemia, Pulmonary arterial hyper... OMIM:242900
Lateral Meningocele Syndrome
Telecanthus, Inguinal hernia, High palate, Cryptorchidism, Ptosis, Downslanted palpebral fissures... OMIM:130720
Camptodactyly With Muscular Hypoplasia, Skeletal Dysplasia, And Abnormal Palmar Creases
Mitral valve prolapse OMIM:211960
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities
Impaired platelet aggregation, Bone marrow hypocellularity, Thrombocytopenia OMIM:300835
Mosaic Trisomy 8
Corneal opacity, High palate, Arthrogryposis multiplex congenita, Decreased testicular size, Camp... ORPHA:96061
Trigonocephaly 1
High, narrow palate, Meckel diverticulum, Synophrys, Epicanthus, Upslanted palpebral fissure OMIM:190440
Diffuse Cutaneous Mastocytosis
Gastrointestinal hemorrhage, Hepatomegaly, Hypotension, Erythroderma, Pruritus ORPHA:79456
Fadd-Related Immunodeficiency
Ventricular septal defect, Pulmonary artery atresia ORPHA:306550
Cyclic Neutropenia
Perianal abscess, Periodontitis, Abdominal pain, Sinusitis, Enterocolitis, Peritonitis, Otitis me... ORPHA:2686
Lethal Short-Limb Skeletal Dysplasia, Al Gazali Type
Opacification of the corneal stroma OMIM:601356
Autoimmune Polyendocrine Syndrome, Type Ii
Steatorrhea, Band keratopathy, Chronic mucocutaneous candidiasis, Keratoconjunctivitis, Chronic h... OMIM:269200
Werner Syndrome
Premature graying of hair, Congestive heart failure, Lipoatrophy, Aplasia/Hypoplasia of the teste... ORPHA:902
Proximal Myotonic Myopathy
Cataract ORPHA:606
Aortic Valve Disease 2
Pulmonic stenosis, Bicuspid aortic valve, Patent foramen ovale, Aortic valve stenosis OMIM:614823
Ichthyosis With Erythrokeratoderma
Erythroderma, Nail pits, Leukonychia, Pruritus OMIM:620507
Tetraamelia Syndrome 2
Hypoplastic pulmonary veins, Bilateral lung agenesis OMIM:618021
Cornelia De Lange Syndrome 3 With Or Without Midline Brain Defects
Clinodactyly of the 5th finger, Proximal placement of thumb, Hooded eyelid, Highly arched eyebrow... OMIM:610759
Pseudotrisomy 13 Syndrome
Microphthalmia, Tricuspid atresia, Cyclopia, Dextrocardia, Anal atresia, Cryptorchidism, Omphaloc... OMIM:264480
Ectodermal Dysplasia 15, Hypohidrotic/Hair Type
Slow-growing hair, Sparse scalp hair, Eczematoid dermatitis, Sparse eyelashes, Blepharitis, Spars... OMIM:618535
Hyper-Ige Syndrome 4B, Autosomal Recessive, With Recurrent Infections
Recurrent otitis media, Chronic diarrhea, Increased circulating IgE level, Eczematoid dermatitis,... OMIM:618523
Immunodeficiency 102
Increased circulating interleukin 6 concentration, Partial absence of specific antibody response ... OMIM:301082
Alkuraya-Kucinskas Syndrome
High palate, Camptodactyly, Pericardial effusion, Cataract, Arthrogryposis multiplex congenita, U... OMIM:617822
16Q24.3 Microdeletion Syndrome
Chronic otitis media, Astigmatism, Highly arched eyebrow, High palate, Abnormal hair pattern, Dys... ORPHA:261250
Congenital Syphilis
Optic atrophy, Myocarditis, Pneumonia, Pancreatitis, Chorioretinitis, High palate, Synovitis, Rhi... ORPHA:499009
Reactive Arthritis
Dystrophic fingernails, Recurrent aphthous stomatitis, Diarrhea, Abdominal pain, Arthritis, Peric... ORPHA:29207
Vulto-Van Silfhout-De Vries Syndrome
High palate, Horizontal eyebrow, Epicanthus, Fine hair, Upslanted palpebral fissure, Widow's peak OMIM:615828
Leishmaniasis
Anorexia, Increased circulating antibody level, Rhinitis, Weight loss, Hypoalbuminemia ORPHA:507
Kindler Syndrome
Anal stenosis, Corneal erosion, Ridged nail, Periodontitis, Dysphagia, Telangiectasia of the skin... OMIM:173650
Malaria
Respiratory distress ORPHA:673
Posterior Column Ataxia-Retinitis Pigmentosa Syndrome
Bone spicule pigmentation of the retina, Camptodactyly, Flexion contracture of finger, Osteomyeli... ORPHA:88628
Jansen-De Vries Syndrome
Brachydactyly, Bicuspid aortic valve, Ventricular septal defect, Short foot, Small hand OMIM:617450
Sepsis In Premature Infants
Decreased liver function, Abdominal distention, Increased circulating interleukin 6 concentration... ORPHA:90051
Heterotaxy, Visceral, 1, X-Linked
Enlarged kidney, Posteriorly placed anus, Myelomeningocele, Pulmonic stenosis, Cardiomegaly, Righ... OMIM:306955
Adams-Oliver Syndrome 5
Hypoplastic toenails, Inguinal hernia, Patent foramen ovale, Dystrophic toenail, Esophageal varix... OMIM:616028
Gastroesophageal Reflux
Esophageal neoplasm, Barrett esophagus, Esophagitis, Gastroesophageal reflux OMIM:109350
Acne Inversa, Familial, 2, With Or Without Dowling-Degos Disease
Recurrent cutaneous abscess formation, Perifolliculitis, Chronic furunculosis, Acne inversa OMIM:613736
Ataxia-Telangiectasia
Premature graying of hair, Hypopigmentation of hair, Multiple cafe-au-lait spots, Skeletal muscle... ORPHA:100
Intellectual Developmental Disorder, Autosomal Dominant 47
Gastroesophageal reflux, Ventricular septal defect, Supernumerary nipple, Thin eyebrow OMIM:617635
Mendelian Susceptibility To Mycobacterial Diseases Due To Complete Il12Rb1 Deficiency
Pneumonia, Salmonella osteomyelitis, Abnormal circulating interleukin concentration, Lymphadenitis ORPHA:319552
Aminopterin/Methotrexate Embryofetopathy
Situs inversus totalis, Anencephaly, Encephalocele, Meningocele, Small nail, Pulmonary artery atr... ORPHA:1908
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome
Hepatomegaly, Protein-losing enteropathy, High palate, Downslanted palpebral fissures, Hepatosple... ORPHA:1655
Gmppb-Related Limb-Girdle Muscular Dystrophy R19
Cataract, Cardiomyopathy, Dilatation of the ventricular cavity ORPHA:363623
Trichothiodystrophy 8, Nonphotosensitive
Trichorrhexis nodosa, Woolly hair, Eczematoid dermatitis, Sparse eyebrow, Sparse hair OMIM:619691
Robinow Syndrome, Autosomal Recessive 2
Sandal gap, Prominent fingertip pads, Camptodactyly, Long eyelashes, Broad thumb, Broad hallux, B... OMIM:618529
Chromosome 2Q37 Deletion Syndrome
Highly arched eyebrow, Blepharophimosis, Eczematoid dermatitis, Obesity, Feeding difficulties, Na... OMIM:600430
Developmental Delay With Variable Intellectual Disability And Dysmorphic Facies
Microphthalmia, High anterior hairline, Supernumerary nipple, Joint contracture of the 5th finger... OMIM:620098
Pulmonary Hypertension, Primary, 1
Pulmonary artery vasoconstriction, Dyspnea, Pulmonary aterial intimal fibrosis, Pulmonary arteria... OMIM:178600
Benign Familial Neonatal Epilepsy
Circumoral cyanosis, Apnea ORPHA:1949
Rhabdoid Tumor
Abdominal pain, Poor appetite, Hypercalcemia, Weight loss, Nausea and vomiting, Neoplasm of the l... ORPHA:69077
Alpha-Thalassemia
Anisopoikilocytosis, Hemoglobin Barts, Anemia, Reticulocytosis, Hepatosplenomegaly, Splenomegaly,... ORPHA:846
Congenital Disorder Of Glycosylation, Type Ie
Downslanted palpebral fissures, Telangiectasia, Respiratory distress OMIM:608799
Telangiectasia, Hereditary Hemorrhagic, Type 4
Tongue telangiectasia, Lip telangiectasia, Nasal mucosa telangiectasia, Dyspnea, Conjunctival tel... OMIM:610655
Triosephosphate Isomerase Deficiency
Jaundice, Respiratory distress, Respiratory insufficiency, Death in adolescence, Death in infancy... OMIM:615512
Marfanoid Habitus-Autosomal Recessive Intellectual Disability Syndrome
Abnormality of the palpebral fissures, Hypoplasia of the musculature, Hirsutism, High palate, Low... ORPHA:2463
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 2
Skin rash, Cataract, Left ventricular hypertrophy, Tachycardia, Dilated cardiomyopathy OMIM:618321
Neurodegeneration With Developmental Delay, Early Respiratory Failure, Myoclonic Seizures, And Brain Abnormalities
Patent foramen ovale, Limb joint contracture, Cataract, Atrial septal defect, Cryptorchidism OMIM:620327
Carney-Stratakis Syndrome
Intestinal obstruction, Gastrointestinal hemorrhage, Abdominal pain, Gastrointestinal stroma tumo... ORPHA:97286
X Small Rings
Clinodactyly of the 5th finger, Upper limb undergrowth, 2-3 toe syndactyly, Cutaneous syndactyly,... ORPHA:96201
Optic Atrophy 8
Mitral valve prolapse OMIM:616648
Ichthyosis, Congenital, Autosomal Recessive 9
Erythroderma, Ectropion OMIM:615023
Structural Heart Defects And Renal Anomalies Syndrome
Death in infancy, Cyanosis, Partial anomalous pulmonary venous return OMIM:617478
Ullrich Congenital Muscular Dystrophy
Respiratory failure ORPHA:75840
Hypotonia, Infantile, With Psychomotor Retardation
Increased variability in muscle fiber diameter, Ventricular septal defect, Myopathy OMIM:616816
Atrial Septal Defect, Ostium Secundum Type
Exertional dyspnea, Dyspnea, Orthopnea, Pneumonia, Cyanosis ORPHA:99103
Autosomal Recessive Polycystic Kidney Disease
Hypoventilation, Jaundice, Spontaneous pneumothorax, Recurrent pneumonia, Pulmonary hypoplasia, R... ORPHA:731
Anterior Segment Dysgenesis 1
Ocular anterior segment dysgenesis, Microcornea, Posterior polar cataract, Opacification of the c... OMIM:107250
Alacrima, Achalasia, And Impaired Intellectual Development Syndrome
High anterior hairline, Orthostatic hypotension, Anisocoria, Ptosis, Dysphagia, Achalasia, Esopha... OMIM:615510
Listeriosis
Jaundice, Respiratory distress, Miscarriage, Conjunctivitis, Pneumonia, Respiratory failure ORPHA:533
Insulin-Like Growth Factor I, Resistance To
Highly arched eyebrow, Patent foramen ovale, High palate, Sparse scalp hair, Synophrys, Rieger an... OMIM:270450
Severe Neurodegenerative Syndrome With Lipodystrophy
Reduced subcutaneous adipose tissue, Respiratory failure ORPHA:363400
Obesity-Hypoventilation Syndrome
Hypoventilation, Cyanosis OMIM:257500
Right Atrial Isomerism
Abnormal lung lobation, Situs inversus totalis, Transposition of the great arteries, Dextrocardia... OMIM:208530
Myhre Syndrome
Short palpebral fissure, Inguinal hernia, Hypertension, Femoral hernia, Ptosis, Bifid uvula, Clef... ORPHA:2588
Neurogenic Arthrogryposis Multiplex Congenita
Respiratory insufficiency due to muscle weakness, Respiratory distress ORPHA:1143
Amyotrophic Lateral Sclerosis 12 With Or Without Frontotemporal Dementia
Respiratory failure OMIM:613435
Cryofibrinogenemia, Familial Primary
Acrocyanosis OMIM:123540
Celiac Disease, Susceptibility To, 1
Abdominal distention, Steatorrhea, Recurrent aphthous stomatitis, Hypocalcemia, Abdominal pain, T... OMIM:212750
Leigh Syndrome
Optic atrophy, Congestive heart failure, Multiple joint contractures, Hypertrophic cardiomyopathy... ORPHA:506
Congenital Bile Acid Synthesis Defect Type 4
Giant cell hepatitis, Cholelithiasis, Hematochezia, Cataract, Pigmentary retinopathy ORPHA:79095
Congenital Tricuspid Stenosis
Tricuspid stenosis ORPHA:95459
Macrocephaly-Intellectual Disability-Left Ventricular Non Compaction Syndrome
Abnormal left ventricle morphology, Patent foramen ovale, Ebstein anomaly of the tricuspid valve,... ORPHA:466791
Periodic Fever, Familial, Autosomal Dominant
Gastrointestinal hemorrhage, Myositis, Chronic diarrhea, Skin rash, Abdominal pain, Vomiting, Con... OMIM:142680
Acute Myelomonocytic Leukemia
Weight loss ORPHA:517
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 1
Tachypnea, Respiratory failure, Ventilator dependence with inability to wean OMIM:604320
Chromosome 9P Deletion Syndrome
Narrow nail, Narrow palpebral fissure, Perimembranous ventricular septal defect, Narrow palate, H... OMIM:158170
Mandibulofacial Dysostosis With Alopecia
Bicuspid aortic valve, Lower eyelid coloboma, Sparse eyelashes OMIM:616367
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency
Erythroderma, Hepatosplenomegaly, Alopecia ORPHA:169154
Zimmermann-Laband Syndrome 1
Hepatomegaly, Thick hair, Small nail, Highly arched eyebrow, Gastroesophageal reflux, Hirsutism, ... OMIM:135500
Intellectual Developmental Disorder With Dysmorphic Facies, Seizures, And Distal Limb Anomalies
Highly arched eyebrow, High palate, Long eyelashes, Long palpebral fissure, Downslanted palpebral... OMIM:617452
Neuromyelitis Optica Spectrum Disorder
Respiratory failure ORPHA:71211
Pseudopelade Of Brocq
Cheilitis, Abnormal hair morphology, Sparse scalp hair, Aplasia/Hypoplasia of the eyebrow, Recurr... ORPHA:129
Glycosylphosphatidylinositol Biosynthesis Defect 25
Coarse hair, Sparse hair OMIM:619985
Sensory Ataxic Neuropathy, Dysarthria, And Ophthalmoparesis
Intestinal pseudo-obstruction, Ptosis, Dysphagia, Mitral regurgitation, Mitral valve prolapse, Ca... OMIM:607459
Greenberg Dysplasia
Abnormal lung lobation, Stillbirth, Neonatal death, Pulmonary hypoplasia OMIM:215140
Argininosuccinic Aciduria
Trichorrhexis nodosa, Brittle hair, Protein avoidance, Increased circulating argininosuccinic aci... OMIM:207900
Palmoplantar Carcinoma, Multiple Self-Healing
Limbal stem cell deficiency, Corneal neovascularization, Nail dystrophy, Chronic rhinitis OMIM:615225
Ehlers-Danlos Syndrome With Platelet Dysfunction From Fibronectin Abnormality
Mitral valve prolapse OMIM:225310
Lateral Meningocele Syndrome
High, narrow palate, Meningocele, High palate, Low posterior hairline, Ptosis, Downslanted palpeb... ORPHA:2789
Infection-Related Hemolytic Uremic Syndrome
Myocarditis, Gastrointestinal infarctions, Increased circulating interleukin 6 concentration, Pan... ORPHA:544482
Combined Immunodeficiency-Enteropathy Spectrum
Nail dystrophy, Alopecia of scalp, Gastrointestinal atresia, Rectal abscess, Psoriasiform dermati... ORPHA:436252
Melnick-Needles Syndrome
Stillbirth, Tricuspid valve prolapse, Genu valgum, Osteolytic defects of the phalanges of the han... OMIM:309350
Carnitine Palmitoyltransferase Ii Deficiency, Infantile
Cardiomegaly, Ventricular tachycardia, Dilated cardiomyopathy, Hepatomegaly OMIM:600649
Interstitial Lung And Liver Disease
Abnormal pulmonary interstitial morphology, Respiratory insufficiency, Intraalveolar phospholipid... OMIM:615486
Chromosome 16Q12 Duplication Syndrome
Central thinning of the outer nuclear layer of the retina, Temporal optic disc pallor, Anisocoria... OMIM:619649
Hsd10 Disease, Infantile Type
Optic atrophy, Hypertrophic cardiomyopathy, Dysphagia, Gastrointestinal dysmotility, Cardiomegaly... ORPHA:391428
Uridine 5-Prime Monophosphate Hydrolase Deficiency, Hemolytic Anemia Due To
Hemolytic anemia, Reticulocytosis OMIM:266120
Dermochondrocorneal Dystrophy
Corneal dystrophy, Subepithelial corneal opacities, Anterior cortical cataract OMIM:221800
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency
Fava bean-induced hemolytic anemia, Leukocytosis, Reticulocytosis, Poikilocytosis, Anisocytosis, ... OMIM:300908
Congenital Enterovirus Infection
Pleural effusion, Respiratory distress ORPHA:292
Alg9-Cdg
Abnormal lung lobation, Pulmonary hypoplasia, Telecanthus, Shallow orbits ORPHA:79328
Erythrokeratodermia Variabilis Et Progressiva 7
Dystrophic toenail, Woolly hair OMIM:619209
Burn-Mckeown Syndrome
Hypomimic face, Atrial septal defect, Short palpebral fissure, Bifid uvula, Cleft palate, Lower e... OMIM:608572
Paternal 20Q13.2Q13.3 Microdeletion Syndrome
Respiratory distress, Aplasia/Hypoplasia of the eyebrow ORPHA:261304
Myopathy And Diabetes Mellitus
Respiratory distress ORPHA:2596
Brachycephaly, Deafness, Cataract, Microstomia, And Impaired Intellectual Development
Breast hypoplasia, Megalocornea, Camptodactyly, Long eyelashes, Shallow orbits, Downslanted palpe... OMIM:601353
Roberts-Sc Phocomelia Syndrome
Microphthalmia, Ankle flexion contracture, Knee flexion contracture, Coloboma, Elbow flexion cont... OMIM:268300
Muscular Dystrophy, Congenital, With Or Without Seizures
Respiratory failure, Respiratory distress OMIM:620166
Stickler Syndrome
Chronic otitis media, Glossoptosis, Lattice retinal degeneration, Bifid uvula, Mitral valve prola... ORPHA:828
Desmoplastic Small Round Cell Tumor
Abdominal distention, Cachexia, Abdominal pain, Weight loss, Nausea and vomiting, Ileus ORPHA:83469
Cowden Syndrome 5
Angioid streaks of the fundus, Thyroiditis, High palate, Furrowed tongue, Subcutaneous lipoma, Ha... OMIM:615108
Severe Combined Immunodeficiency Due To Dclre1C Deficiency
Chronic oral candidiasis, Recurrent aphthous stomatitis, Skin rash, Decreased circulating IgG lev... ORPHA:275
Fucosidosis
Hepatomegaly, Macroglossia, Thick eyebrow, Cherry red spot of the macula, Flexion contracture, Sp... OMIM:230000
Osteogenesis Imperfecta, Type X
Respiratory distress, Recurrent pneumonia, Death in childhood, Shallow orbits OMIM:613848
Prolidase Deficiency
Increased circulating antibody level, Facial hirsutism, High palate, Low posterior hairline, Ecze... OMIM:170100
Moebius Syndrome
Microphthalmia, Abnormality of the nail, High palate, Camptodactyly, Decreased testicular size, B... OMIM:157900
Mitochondrial Complex Iii Deficiency, Nuclear Type 1
Cholangitis, Brittle hair, Hypertrophic cardiomyopathy, Ptosis, Cataract, Rod-cone dystrophy, Tub... OMIM:124000
Gabriele-De Vries Syndrome
Telecanthus, Patent foramen ovale, Ebstein anomaly of the tricuspid valve, Ptosis, Downslanted pa... ORPHA:506358
Frontonasal Dysplasia 3
Microphthalmia, Upper eyelid coloboma, Absent eyebrow, Sparse eyelashes, Cleft palate OMIM:613456
Hennekam Lymphangiectasia-Lymphedema Syndrome 3
Protein-losing enteropathy, Upslanted palpebral fissure, Synophrys, Spontaneous pneumothorax OMIM:618154
Long Qt Syndrome 15
2:1 atrioventricular block, Polymorphic ventricular tachycardia, Ventricular bigeminy, Bradycardi... OMIM:616249
Neonatal Inflammatory Skin And Bowel Disease
Slow-growing scalp hair, Anal fissure, Bloody diarrhea, Recurrent bacterial skin infections, Hori... ORPHA:294023
Lambert Syndrome
Branchial anomaly, Ventricular septal defect ORPHA:1296
Mal De Meleda
Inflammatory abnormality of the skin, Superficial dermal perivascular inflammatory infiltrate ORPHA:87503
Wolman Disease
Abdominal distention, Steatorrhea, Cachexia, Nausea and vomiting, Esophageal varix, Malnutrition,... ORPHA:75233
Klippel-Feil Syndrome 2, Autosomal Recessive
Ventricular septal defect, Cleft palate, Low posterior hairline OMIM:214300
Glycine Encephalopathy With Normal Serum Glycine
Respiratory failure, Apnea, Ptosis, Long eyelashes OMIM:617301
Cenani-Lenz Syndrome
Ectropion, High, narrow palate, Abnormal dental enamel morphology, Absent fingernail, Absent toen... ORPHA:3258
Cardiomyopathy, Dilated, With Woolly Hair, Keratoderma, And Tooth Agenesis
Nail dystrophy, Leukonychia, Woolly hair, Fragile nails, Syncope, Ventricular tachycardia, Dilate... OMIM:615821
Myasthenic Syndrome, Congenital, 21, Presynaptic
Respiratory insufficiency, Ptosis, Apnea, Cyanosis OMIM:617239
Prader-Willi Syndrome Due To Imprinting Mutation
Iris hypopigmentation, Hypopigmentation of the skin, Hypopigmentation of hair ORPHA:177910
Trichothiodystrophy 2, Photosensitive
Tiger tail banding, Coarse hair OMIM:616390
2Q32Q33 Microdeletion Syndrome
High palate, Decreased testicular size, Downslanted palpebral fissures, Cleft palate, Sparse hair... ORPHA:251019
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies
Pulmonary hypoplasia OMIM:271520
Ritscher-Schinzel Syndrome 2
High palate, Camptodactyly, Low posterior hairline, Pulmonary artery hypoplasia, Camptodactyly of... OMIM:300963
Shiga Toxin-Associated Hemolytic Uremic Syndrome
Rectal prolapse, Pancreatitis, Hypokalemia, Acute colitis, Abdominal pain, Diarrhea, Intestinal p... ORPHA:90038
Meacham Syndrome
Abnormal lung lobation, Situs inversus totalis, Transposition of the great arteries, Pulmonary se... ORPHA:3097
Cortical Dysplasia, Complex, With Other Brain Malformations 6
Microphthalmia, Retinal dysplasia OMIM:615771
Bacterial Toxic-Shock Syndrome
Respiratory distress, Ecchymosis, Respiratory tract infection, Pneumonia, Tachypnea ORPHA:36234
Congenital Unilateral Hypoplasia Of Depressor Anguli Oris
Congenital diaphragmatic hernia, Cleft palate, Tetralogy of Fallot, Abnormality of the pulmonary ... ORPHA:1166
Monosomy 22
Seborrheic dermatitis, High palate, Synophrys, Hepatosplenomegaly, Sparse hair, Aplasia of the th... ORPHA:96123
Granulomatous Disease, Chronic, Autosomal Recessive, 5
Perianal abscess, Anal fissure, Crohn's disease, Acute pancreatitis, Lymphadenitis, Eczematoid de... OMIM:618935
Frontonasal Dysplasia-Alopecia-Genital Anomalies Syndrome
Microphthalmia, Telecanthus, Fine hair, Cryptorchidism, Upslanted palpebral fissure, Alopecia ORPHA:228390
Meier-Gorlin Syndrome 7
Pulmonary hypoplasia, Thin eyebrow OMIM:617063
Cardiomyopathy, Dilated, With Woolly Hair And Keratoderma
Congestive heart failure, Nail dystrophy, Woolly hair, Sparse eyelashes, Sparse eyebrow, Cardiomy... OMIM:605676
Congenital Disorder Of Deglycosylation 1
Hepatomegaly, Oral-pharyngeal dysphagia, Corneal ulceration, Corneal opacity, Ptosis, Impaired or... OMIM:615273
Liposarcoma
Nausea and vomiting, Abdominal pain, Weight loss ORPHA:69078
Beaulieu-Boycott-Innes Syndrome
Short palpebral fissure, High anterior hairline, Velopharyngeal insufficiency, Ventricular septal... OMIM:613680
Lymphedema, Cardiac Septal Defects, And Characteristic Facies
Atrial flutter, Telecanthus, Epicanthus, Hypoplastic toenails, Overriding aorta, Atrial septal de... OMIM:601927
Combined Oxidative Phosphorylation Deficiency 11
Stillbirth, Death in childhood, Death in infancy, Neonatal death, Respiratory failure OMIM:614922
Gracile Bone Dysplasia
Microphthalmia, Aniridia, Ankyloglossia OMIM:602361
Autoimmune Lymphoproliferative Syndrome
Increased circulating antibody level, Neoplasm of the tongue, Recurrent aphthous stomatitis, Incr... ORPHA:3261
Trisomy X
Atrial septal defect, Ventricular septal defect, Upslanted palpebral fissure, Epicanthus ORPHA:3375
Candidiasis, Familial, 8
Chronic oral candidiasis, Cheilitis, Seborrheic dermatitis, Blepharitis, Macroglossia OMIM:615527
Phosphoglycerate Kinase 1 Deficiency
Erythroid hyperplasia, Hemolytic anemia, Reticulocytosis OMIM:300653
Pseudohypoparathyroidism Type 1B
Decreased response to growth hormone stimulation test, Prolonged QT interval, Pseudohypoparathyro... ORPHA:94089
Short-Rib Thoracic Dysplasia 20 With Polydactyly
Neonatal death, Pulmonary hypoplasia OMIM:617925
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans
Respiratory distress, Neonatal death, Respiratory failure, Palmoplantar cutis laxa, Central apnea OMIM:616482
Multiple Mitochondrial Dysfunctions Syndrome 1
Respiratory insufficiency, Respiratory failure, Neonatal death, Death in infancy OMIM:605711
Hirschsprung Disease, Cardiac Defects, And Autonomic Dysfunction
Aganglionic megacolon, Hypertension, Flexion contracture, Hyperconvex nail, Tachycardia, Atrial s... OMIM:613870
Chondrodysplasia Punctata, Autosomal Dominant
Hip contracture, Sparse hair, Knee flexion contracture, Cataract, Coarse hair OMIM:118650
Hereditary Amyloidosis With Primary Renal Involvement
Decreased liver function, Intestinal obstruction, Decreased HDL cholesterol concentration, Gastro... ORPHA:85450
Unilateral Polymicrogyria
Apnea, Cyanosis, Pulmonary arteriovenous malformation ORPHA:268943
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3
Optic atrophy, Microphthalmia, Buphthalmos, Retinal dysplasia, Coloboma, Retinal atrophy, Megaloc... OMIM:253280
Neu-Laxova Syndrome 1
Stillbirth, Pterygium, Absent eyelashes, Ablepharon, Yellow subcutaneous tissue covered by thin, ... OMIM:256520
Rheumatoid Arthritis
Rheumatoid arthritis, Elevated circulating C-reactive protein concentration, Weight loss OMIM:180300
Cutis Laxa, Autosomal Recessive, Type Iid
Congestive heart failure, Entropion, Inguinal hernia, Right bundle branch block, Hypertrophic car... OMIM:617403
Noonan Syndrome 13
Recurrent otitis media, Broad eyebrow, Gastroesophageal reflux, Highly arched eyebrow, High palat... OMIM:619087
Congenital Fibrosis Of Extraocular Muscles
Congenital fibrosis of extraocular muscles, Optic nerve hypoplasia, Levator palpebrae superioris ... ORPHA:45358
3Mc Syndrome 1
Abnormal anterior chamber morphology, Spina bifida occulta, Telecanthus, Highly arched eyebrow, D... OMIM:257920
Agammaglobulinemia 7, Autosomal Recessive
Erythema nodosum, Agammaglobulinemia, Panhypogammaglobulinemia OMIM:615214
Carpenter Syndrome
Abnormal cornea morphology, Cryptorchidism, Umbilical hernia ORPHA:65759
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease
Elevated circulating C-reactive protein concentration, Hepatocellular carcinoma, Colon cancer, Ab... ORPHA:158057
Symptomatic Form Of Hfe-Related Hemochromatosis
Congestive heart failure, Hepatomegaly, Hyperpigmentation of the skin, Elevated jugular venous pr... ORPHA:465508
Huntington Disease-Like 2
Weight loss OMIM:606438
Christianson Syndrome
Gastroesophageal reflux, Cachexia, Thick eyebrow, Dysphagia, Feeding difficulties in infancy ORPHA:85278
Immune Dysregulation, Autoimmunity, And Autoinflammation
Abnormal circulating C-reactive protein concentration, Increased circulating interleukin 6 concen... OMIM:620514
Cerebrotendinous Xanthomatosis
Xanthelasma, Cholelithiasis, Angina pectoris, Optic disc pallor, Cataract, Myocardial infarction,... OMIM:213700
Townes-Brocks Syndrome
Microphthalmia, Iris coloboma, Rectovaginal fistula, Anal atresia, Rectoperineal fistula, Tetralo... ORPHA:857
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant
Respiratory failure, Respiratory insufficiency due to muscle weakness, Central apnea OMIM:618291
Snakebite Envenomation
Angioedema, Respiratory failure, Ecchymosis, Erythema ORPHA:449285
Phaver Syndrome
Pterygium, Pulmonary artery atresia, Myelomeningocele, Camptodactyly of finger, Downslanted palpe... ORPHA:2876
Bullous Diffuse Cutaneous Mastocytosis
Erythroderma, Pruritus ORPHA:280785
Craniolenticulosutural Dysplasia
Optic atrophy, Gastroesophageal reflux, Brittle hair, Punctate cataract, High palate, Posterior Y... OMIM:607812
Muscle-Eye-Brain Disease With Bilateral Multicystic Leucodystrophy
Cataract, Buphthalmos, Retinal dystrophy ORPHA:370997
Q Fever
Abnormal pulmonary interstitial morphology, Purpura, Respiratory distress, Pleural effusion, Pneu... ORPHA:781
Ichthyosis, Congenital, Autosomal Recessive 6
Erythroderma, Ectropion OMIM:612281
Dystonia-Deafness Syndrome 1
Cleft palate, Dysphagia, Cataract, Achalasia, Pseudobulbar paralysis OMIM:607371
Hypoadrenocorticism, Familial
Apnea, Cyanosis OMIM:240200
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8
Microphthalmia, Retinal dysplasia OMIM:614830
Mass Syndrome
Mitral valve prolapse OMIM:604308
Early-Onset Seizures-Distal Limb Anomalies-Facial Dysmorphism-Global Developmental Delay Syndrome
Highly arched eyebrow, High palate, Long eyelashes, Long palpebral fissure, Downslanted palpebral... ORPHA:505237
Oculocutaneous Albinism Type 1
Iris transillumination defect, Generalized hypopigmentation, Iris hypopigmentation, White eyelash... ORPHA:352731
Hyper-Ige Syndrome 4A, Autosomal Dominant, With Recurrent Infections
Increased circulating IgE level, Chronic mucocutaneous candidiasis, High palate, Cutaneous absces... OMIM:619752
Pyruvate Kinase Deficiency Of Red Cells
Chronic hemolytic anemia, Reduced red cell pyruvate kinase level, Reticulocytosis, Decreased hemo... OMIM:266200
Kyphoscoliotic Ehlers-Danlos Syndrome
Dextrocardia, Inguinal hernia, Microcornea, High palate, Synophrys, Downslanted palpebral fissure... ORPHA:536545
Myopathy, Myofibrillar, 9, With Early Respiratory Failure
Respiratory failure, Nocturnal hypoventilation OMIM:603689
Familial Isolated Hypoparathyroidism
Cataract, Abnormal dental enamel morphology, Hypoparathyroidism, Arrhythmia ORPHA:2238
Kabuki Syndrome 2
Atrioventricular canal defect, Recurrent otitis media, Highly arched eyebrow, Hirsutism, High pal... OMIM:300867
Aphalangy-Hemivertebrae-Urogenital-Intestinal Dysgenesis Syndrome
Pulmonary hypoplasia ORPHA:1112
Lambotte Syndrome
Ocular anterior segment dysgenesis, Ventricular septal defect, Telecanthus OMIM:245552
Aase-Smith Syndrome I
Death in infancy, Ptosis, Cleft palate, Flexion contracture, Ventricular septal defect OMIM:147800
Holt-Oram Syndrome
Proximal placement of thumb, Pulmonic stenosis, Aplasia of the 1st metacarpal, 1-2 finger syndact... OMIM:142900
Pmp22-Rai1 Contiguous Gene Duplication Syndrome
Sandal gap, Patent foramen ovale, 2-3 toe syndactyly, Downslanted palpebral fissures, Abnormal he... ORPHA:477817
Peripheral Demyelinating Neuropathy-Central Dysmyelinating Leukodystrophy-Waardenburg Syndrome-Hirschsprung Disease
Premature graying of hair, Hypopigmented skin patches, Hepatomegaly, Aganglionic megacolon, Hypop... ORPHA:163746
Ehlers-Danlos Syndrome, Musculocontractural Type, 2
Downslanted palpebral fissures, Patent foramen ovale, Telecanthus, Mitral valve prolapse OMIM:615539
Oculocutaneous Albinism Type 3
Blue irides, Red hair, Hypopigmentation of the skin, Iris hypopigmentation, White eyelashes, Whit... ORPHA:79433
Geleophysic Dysplasia 2
Aortic valve stenosis, Mitral stenosis, Tricuspid stenosis, Mitral valve prolapse OMIM:614185
Majeed Syndrome
Acne, Cachexia, Synovitis, Failure to thrive, Pustule, Osteomyelitis, Malabsorption, Weight loss,... ORPHA:77297
Congenital Fiber-Type Disproportion Myopathy
Aspiration pneumonia, Hypercapnia, Hypoxemia, Respiratory insufficiency due to muscle weakness, R... ORPHA:2020
Agammaglobulinemia 4, Autosomal Recessive
Chronic sinusitis, Recurrent pneumonia, Protein-losing enteropathy, Recurrent otitis media OMIM:613502
Fliedner-Zweier Syndrome
Meningocele, High palate, Tracheoesophageal fistula, Anal atresia, Epicanthus, Bicuspid aortic va... OMIM:620511
Kaufman Oculocerebrofacial Syndrome
Astigmatism, Telecanthus, Microcornea, High palate, Intestinal malrotation, Ptosis, Sparse eyebro... OMIM:244450
Thiamine-Responsive Megaloblastic Anemia Syndrome
Situs inversus totalis, Gastroesophageal reflux, Cardiomyopathy, Arrhythmia, Atrial septal defect... OMIM:249270
Cowden Syndrome 6
Angioid streaks of the fundus, Thyroiditis, High palate, Furrowed tongue, Subcutaneous lipoma, Ha... OMIM:615109
Marshall Syndrome
Recurrent otitis media, Retinal detachment, Lens luxation, Vitreoretinopathy, Knee osteoarthritis... OMIM:154780
Vacterl Association With Hydrocephalus
Respiratory insufficiency, Respiratory failure, Stillbirth OMIM:276950
Fumarase Deficiency
Polycythemia OMIM:606812
Cryptococcosis
Pneumonia, Respiratory distress, Pleural effusion, Dyspnea, Nodular pattern on pulmonary HRCT ORPHA:1546
Corticosteroid-Sensitive Aseptic Abscess Syndrome
Diarrhea, Abdominal pain, Elevated circulating C-reactive protein concentration, Weight loss ORPHA:54251
Spondyloepiphyseal Dysplasia Tarda, X-Linked
Opacification of the corneal stroma, Hip osteoarthritis OMIM:313400
Congenital Disorder Of Glycosylation, Type Im
Diarrhea, Sparse eyelashes, Failure to thrive, Sparse eyebrow, Vomiting, Inflammatory abnormality... OMIM:610768
Noonan Syndrome-Like Disorder With Or Without Juvenile Myelomonocytic Leukemia
Highly arched eyebrow, Low posterior hairline, Aortic valve stenosis, Ptosis, Downslanted palpebr... OMIM:613563
Hemorrhagic Fever-Renal Syndrome
Pulmonary edema, Respiratory distress, Petechiae, Pleural effusion, Dyspnea, Ecchymosis, Pneumoni... ORPHA:340
Pancreatic Triacylglycerol Lipase Deficiency
Abdominal distention, Steatorrhea, Diarrhea, Abdominal pain, Exocrine pancreatic insufficiency, W... ORPHA:309031
Bryant-Li-Bhoj Neurodevelopmental Syndrome 1
Broad thumb, Sparse eyebrow, Downslanted palpebral fissures, Epicanthus, Bicuspid aortic valve, T... OMIM:619720
Acute Radiation Syndrome
Hypotension, Inflammatory abnormality of the skin, Cataract, Interstitial pneumonitis, Telangiect... ORPHA:454831
Eosinophilic Fasciitis
Myositis, Arthritis, Fasciitis, Weight loss ORPHA:3165
Deafness, X-Linked 7
Ptosis, Thick eyebrow, Unilateral microphthalmos, Telecanthus OMIM:301018
Spinocerebellar Ataxia 48
Cachexia, Dysphagia OMIM:618093
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome
Abnormal circulating interferon-gamma concentration, Panhypogammaglobulinemia, Diarrhea, Chronic ... ORPHA:79124
Pontocerebellar Hypoplasia Type 1
Respiratory failure ORPHA:2254
Muscular Dystrophy-Dystroglycanopathy (Congenital With Or Without Impaired Intellectual Development), Type B, 5
Respiratory failure OMIM:606612
X-Linked Intellectual Disability, Golabi-Ito-Hall Type
Nail dystrophy, Brittle hair, Epicanthus, Atrial septal defect, Macroglossia, Upslanted palpebral... ORPHA:93947
Odontotrichoungual-Digital-Palmar Syndrome
Nail dysplasia, Nail dystrophy, Abnormality of hair texture OMIM:601957
Sifrim-Hitz-Weiss Syndrome
Short palpebral fissure, Astigmatism, Ptosis, Bifid uvula, Tetralogy of Fallot, Epicanthus, Atria... OMIM:617159
Ectodermal Dysplasia-Sensorineural Deafness Syndrome
Coarse hair, Sparse hair, Brittle hair ORPHA:1883
Progressive Supranuclear Palsy-Parkinsonism Syndrome
Respiratory distress ORPHA:240085
Distal Deletion 15Q
Upslanted palpebral fissure, Pulmonary hypoplasia, Blepharophimosis ORPHA:1596
Rapp-Hodgkin Syndrome
Nail dystrophy, Recurrent otitis media, Pili canaliculi, Decreased number of sweat glands, Small ... OMIM:129400
Pressure-Induced Localized Lipoatrophy
Inflammatory abnormality of the skin ORPHA:90160
Oculocerebral Hypopigmentation Syndrome, Preus Type
High palate, White hair, Iris hypopigmentation, Cataract, Ocular albinism ORPHA:2720
Sickle Cell Anemia
Chronic hemolytic anemia, Iron deficiency anemia, Increased mean corpuscular volume, Leukocytosis... ORPHA:232
Growth Hormone Insensitivity Syndrome With Immune Dysregulation 2, Autosomal Dominant
Celiac disease, Thyroiditis, Increased circulating IgE level, Eczematoid dermatitis OMIM:618985
Menkes Disease
Alopecia, Decreased circulating ceruloplasmin concentration, Sparse hair, Brittle hair OMIM:309400
Joubert Syndrome 22
Microphthalmia, Retinal dysplasia, Coloboma OMIM:615665
Classical Ehlers-Danlos Syndrome
Tricuspid valve prolapse, Rectal prolapse, Orthostatic hypotension, Inguinal hernia, Gastroesopha... ORPHA:287
Atrial Septal Defect 7 With Or Without Atrioventricular Conduction Defects
Prolonged PR interval, Atrial fibrillation, Pulmonary artery atresia, Secundum atrial septal defe... OMIM:108900
Cutis Laxa, Autosomal Dominant 1
Emphysema, Prematurely aged appearance, Dyspnea, Bronchiectasis, Poor wound healing, Peripheral p... OMIM:123700
Chromosome 1P36 Deletion Syndrome, Distal
Atrial septal defect, Noncompaction cardiomyopathy, Patent foramen ovale, Ebstein anomaly of the ... OMIM:607872
Restrictive Dermopathy 2
Cyanosis, Respiratory distress OMIM:619793
Imerslund-Gräsbeck Syndrome
Anisopoikilocytosis, Macrocytic anemia, Pancytopenia, Megaloblastic anemia, Abnormal hemoglobin c... ORPHA:35858
Corneal Dystrophy, Posterior Amorphous
Corneal dystrophy, Ectopia pupillae, Iris coloboma OMIM:612868
Neurodevelopmental Disorder With Or Without Autism Or Seizures
Pulmonic stenosis, Atrial septal defect OMIM:619239
19P13.12 Microdeletion Syndrome
Aortic regurgitation, Arthrogryposis multiplex congenita, Synophrys, Cleft palate, Generalized hi... ORPHA:254346
Whim Syndrome
Atelectasis, Severe periodontitis, Parotitis, Lymphadenitis, Bronchiectasis, Sinusitis, Recurrent... ORPHA:51636
Turnpenny-Fry Syndrome
Atrial septal defect, Tricuspid valve prolapse, Downslanted palpebral fissures, Mitral valve prol... OMIM:618371
Fraser Syndrome 3
Abnormal lung lobation, Cryptophthalmos, Stillbirth OMIM:617667
Multiple Acyl-Coa Dehydrogenase Deficiency
Respiratory failure, Dyspnea, Cardiorespiratory arrest, Telecanthus ORPHA:26791
Laryngomalacia
Respiratory distress OMIM:150280
Medium Chain Acyl-Coa Dehydrogenase Deficiency
Decreased liver function, Diarrhea, Cachexia, Elevated circulating creatine kinase concentration,... ORPHA:42
Bardet-Biedl Syndrome 19
Atrial septal defect, Ventricular septal defect, Partial atrioventricular canal defect, Hypoplast... OMIM:615996
Van Esch-O'Driscoll Syndrome
Short palpebral fissure, Pulmonary valve atresia, Esophageal atresia, Tracheoesophageal fistula, ... OMIM:301030
Thrombotic Thrombocytopenic Purpura
Microangiopathic hemolytic anemia, Thrombocytopenia, Reticulocytosis ORPHA:54057
Telangiectasia, Hereditary Hemorrhagic, Type 1
Tongue telangiectasia, Nail bed telangiectasia, Exertional dyspnea, Cyanosis, Palate telangiectas... OMIM:187300
Vascular Hyalinosis
Premature graying of hair, Protein-losing enteropathy, Hematochezia, Subarachnoid hemorrhage OMIM:277175
Scalp-Ear-Nipple Syndrome
Palpebral edema, Telecanthus, Breast aplasia, Hypertension, Abnormal fingernail morphology, Eyeli... ORPHA:2036
Cockayne Syndrome A
Optic atrophy, Dry hair, Hepatomegaly, Hypertension, Retinal atrophy, Atypical scarring of skin, ... OMIM:216400
Folinic Acid-Responsive Seizures
Apnea, Respiratory distress ORPHA:79097
Adams-Oliver Syndrome 6
Esophageal varix, Truncus arteriosus, Portal hypertension, Tricuspid regurgitation, Splenomegaly,... OMIM:616589
X-Linked Intellectual Disability, Nascimento Type
Nail dystrophy, Patent foramen ovale, Upslanted palpebral fissure, Lumbar hypertrichosis, Low pos... ORPHA:163956
Aicardi-Goutières Syndrome
Lipoatrophy, Developmental glaucoma, Panniculitis, Myositis, Arthritis, Chilblains, Hypertrophic ... ORPHA:51
2P15P16.1 Microdeletion Syndrome
Optic atrophy, Supernumerary nipple, Aortic regurgitation, Telecanthus, Inguinal hernia, Optic ne... ORPHA:261349
Griscelli Syndrome Type 2
Premature graying of hair, Hepatomegaly, Hypopigmentation of hair, Iris hypopigmentation, Splenom... ORPHA:79477
Microphthalmia With Cyst, Bilateral Facial Clefts, And Limb Anomalies
Bilateral microphthalmos, High, narrow palate, Telecanthus, Abnormal hair morphology, Optic nerve... OMIM:607597
Spondyloepiphyseal Dysplasia, Maroteaux Type
Opacification of the corneal stroma OMIM:184095
ERI1-related disease
High palate, Pulmonary arterial hypertension, Tricuspid regurgitation, Velopharyngeal insufficien... OMIM:608739
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion
Decreased response to growth hormone stimulation test, Astigmatism, Aortic regurgitation, Inguina... ORPHA:268261
Intellectual Developmental Disorder, Fra12A Type
Erythroderma OMIM:136630
Mitochondrial Complex Iv Deficiency, Nuclear Type 19
Recurrent respiratory infections, Protein-losing enteropathy OMIM:619063
Cutis Laxa, Autosomal Recessive, Type Iia
Brittle hair, Abnormality of hair texture, High palate, Failure to thrive, Feeding difficulties i... OMIM:219200
Enhanced S-Cone Syndrome
Vitreoretinopathy, Retinoschisis, Cataract, Macular edema, Pigmentary retinopathy OMIM:268100
19P13.3 Microduplication Syndrome
Telecanthus, Gastroesophageal reflux, Pulmonary arterial hypertension, Downslanted palpebral fiss... ORPHA:447980
Hirschsprung Disease With Ulnar Polydactyly, Polysyndactyly Of Big Toes, And Ventricular Septal Defect
Ventricular septal defect, Aganglionic megacolon OMIM:235750
Familial Cold Autoinflammatory Syndrome 2
Recurrent aphthous stomatitis, Elevated circulating C-reactive protein concentration, Abdominal p... OMIM:611762
Congenital Disorder Of Glycosylation, Type If
Optic atrophy, Erythroderma, Flexion contracture OMIM:609180
Neurodevelopmental Disorder With Growth Retardation, Dysmorphic Facies, And Corpus Callosum Abnormalities
Medial flaring of the eyebrow, Broad eyebrow, Patent foramen ovale, Pulmonary artery atresia, Hig... OMIM:620113
Holoprosencephaly-Radial Heart Renal Anomalies Syndrome
Cyclopia, Microphthalmia, Omphalocele, Tetralogy of Fallot, Absent gallbladder, Overriding aorta,... ORPHA:3186
22Q11.2 Duplication Syndrome
Transposition of the great arteries, Ptosis, Downslanted palpebral fissures, Cleft palate, Tetral... ORPHA:1727
Peroxisome Biogenesis Disorder 10B
Cataract OMIM:617370
Good Syndrome
Bronchiectasis, Ptosis, Recurrent respiratory infections, Dyspnea ORPHA:169105
Bietti Crystalline Corneoretinal Dystrophy
Marginal corneal dystrophy, Chorioretinal atrophy, Corneal crystals, Retinal degeneration OMIM:210370
Alagille Syndrome 1
Abnormal anterior chamber morphology, Band keratopathy, Chorioretinal atrophy, Microcornea, Axenf... OMIM:118450
Loeys-Dietz Syndrome 2
Patent foramen ovale, Absent distal phalanges, Bicuspid pulmonary valve, Camptodactyly, Postaxial... OMIM:610168
Antiphospholipid Syndrome, Familial
Iritis, Retinal detachment, Retinal vasculitis, Central retinal artery occlusion, Keratitis, Scle... OMIM:107320
Mckusick-Kaufman Syndrome
Pulmonary hypoplasia OMIM:236700
Autoimmune Disease, Multisystem, Infantile-Onset, 3
Recurrent otitis media, Increased circulating interleukin 6 concentration, Partial absence of spe... OMIM:620430
Diamond-Blackfan Anemia 15 With Mandibulofacial Dysostosis
Downslanted palpebral fissures, Sparse eyebrow, Epicanthus, Respiratory distress OMIM:606164
Neuroendocrine Tumor Of The Rectum
Anorexia, Bowel urgency, Melena, Abdominal pain, Hypoactive bowel sounds, Bloody diarrhea, Lack o... ORPHA:100081
Neuroendocrine Tumor Of Anal Canal
Anorexia, Bowel urgency, Melena, Abdominal pain, Hypoactive bowel sounds, Bloody diarrhea, Lack o... ORPHA:100082
Thymoma
Myositis, Decreased circulating antibody level, Rheumatoid arthritis, Weight loss, Neoplasm of th... ORPHA:99867
Immunodeficiency 110 With Lymphoproliferation
Recurrent aphthous stomatitis, Patent foramen ovale, Chronic mucocutaneous candidiasis, Molluscum... OMIM:614868
Biemond Syndrome Type 2
Microphthalmia, Coloboma ORPHA:141333
Tetrasomy 12P
Abnormal soft palate morphology, Cachexia, Anal atresia, Sparse eyebrow, Sparse hair ORPHA:884
Brachydactyly-Short Stature-Retinitis Pigmentosa Syndrome
Small nail, Absent eyelashes, Absent eyebrow, Cafe-au-lait spot, Downslanted palpebral fissures, ... ORPHA:166035
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 6
Respiratory failure OMIM:613954
Short Stature And Facioauriculothoracic Malformations
Ptosis, Ventricular septal defect, High palate, Cleft palate OMIM:609654
Chand Syndrome
Nail dysplasia, Bifid tongue, Cleft palate, Curly hair ORPHA:1401
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13
Iris hypopigmentation, Hypopigmentation of the skin, Hypopigmentation of hair ORPHA:411515
Erythroderma, Lethal Congenital
Congenital exfoliative erythroderma OMIM:227090
Mandibuloacral Dysplasia With Type A Lipodystrophy
Breast aplasia, Absent eyelashes, High palate, Abnormal eyebrow morphology, Flexion contracture, ... ORPHA:90153
Bohring-Opitz Syndrome
Narrow palate, Thick hair, Gastroesophageal reflux, Bilateral cleft palate, Hirsutism, Upslanted ... OMIM:605039
Thiamine-Responsive Megaloblastic Anemia Syndrome
Congestive heart failure, Cardiac arrest, Paroxysmal atrial tachycardia, Atrial septal defect, Ve... ORPHA:49827
Hypopigmentation, Organomegaly, And Delayed Myelination And Development
Hepatomegaly, Hypopigmentation of hair, Hypopigmentation of the skin, Cafe-au-lait spot, Splenome... OMIM:618541
Mednik Syndrome
Microcolon, Volvulus, Cataract, Jejunal atresia, Upslanted palpebral fissure OMIM:609313
Congenital Muscular Dystrophy Due To Lmna Mutation
Cachexia, Feeding difficulties ORPHA:157973
Hall-Riggs Syndrome
Thick hair, Slow-growing hair, Failure to thrive, Nausea and vomiting, Coarse hair ORPHA:2107
Conductive Deafness-Ptosis-Skeletal Anomalies Syndrome
Abnormal dental enamel morphology, Ptosis, Epicanthus, Fine hair, Blepharophimosis ORPHA:3236
Cogan Syndrome
Large vessel vasculitis, Aortic regurgitation, Inflammatory abnormality of the eye, Vasculitis, E... ORPHA:1467
Leprosy
Iritis, Loss of eyelashes, Corneal ulceration, Uveitis, Absent eyebrow, Sparse body hair, Epistax... ORPHA:548
Polymyositis
Anorexia, Gastrointestinal hemorrhage, Gastroesophageal reflux, Abdominal pain, Arthritis, Elevat... ORPHA:732
Rat-Bite Fever
Myocarditis, Morbilliform rash, Pancreatitis, Diarrhea, Arthritis, Parotitis, Skin rash, Lymphade... ORPHA:31205
Graft Versus Host Disease
Gastrointestinal inflammation, Maculopapular exanthema, Inflammatory abnormality of the eye, Stom... ORPHA:39812
Japanese Encephalitis
Pulmonary edema, Respiratory distress, Eyelid fasciculation, Irregular respiration, Abnormal patt... ORPHA:79139
Apert Syndrome
Optic atrophy, Narrow palate, Ovarian neoplasm, Corneal erosion, Esophageal atresia, Ectopic anus... ORPHA:87
Congenital Disorder Of Glycosylation, Type Id
Nail dysplasia, Iris coloboma, Villous atrophy, Small nail, High palate, Bifid uvula, Flexion con... OMIM:601110
Intellectual Disability-Polydactyly-Uncombable Hair Syndrome
Abnormal hair morphology, Slow-growing hair, Uncombable hair, Hernia of the abdominal wall, Aplas... ORPHA:3082
Microcephaly, Congenital Heart Disease, Unilateral Renal Agenesis, And Hyposegmented Lungs
Truncus arteriosus, Ventricular septal defect, Cleft palate, Hydranencephaly OMIM:601355
Opitz-Kaveggia Syndrome
Narrow palate, Frontal upsweep of hair, Anal stenosis, Multiple joint contractures, Inguinal hern... OMIM:305450
Congenital Disorder Of Glycosylation, Type It
Hepatomegaly, Recurrent otitis media, Tachycardia, Pulmonary arterial hypertension, Aborted sudde... OMIM:614921
Overhydrated Hereditary Stomatocytosis
Increased mean corpuscular volume, Reticulocytosis, Splenomegaly, Stomatocytosis, Hemolytic anemia OMIM:185000
Pruritic Urticarial Papules And Plaques Of Pregnancy
Palmar pruritus, Pruritus on foot, Increased body weight, Eczematoid dermatitis, Pruritis on abdo... ORPHA:64745
Braddock-Carey Syndrome 2
Downslanted palpebral fissures, Microphthalmia, Cleft palate OMIM:619981
Ichthyosis, Congenital, Autosomal Recessive 7
Erythroderma OMIM:615022
Arrhythmogenic Right Ventricular Dysplasia, Familial, 8
Congestive heart failure, Right ventricular cardiomyopathy, Premature ventricular contraction, Wo... OMIM:607450
Developmental Malformations-Deafness-Dystonia Syndrome
Cataract, Achalasia, Macroglossia, Dysphagia ORPHA:79107
Pemphigus Vulgaris
Alopecia of scalp, Feeding difficulties, Weight loss, Recurrent cutaneous abscess formation, Feed... ORPHA:704
Ulbright-Hodes Syndrome
Pneumothorax, Respiratory failure, Pulmonary hypoplasia, Respiratory distress ORPHA:3404
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type
Death in childhood, Hypertension, Pulmonary arterial hypertension, Death in infancy, Cardiomegaly OMIM:613320
Growth Retardation, Developmental Delay, And Facial Dysmorphism
Death in childhood, Hypertrophic cardiomyopathy, Protruding tongue, Umbilical hernia, Bifid uvula... OMIM:612938
14Q22Q23 Microdeletion Syndrome
Anophthalmia, Anterior pituitary hypoplasia, Ptosis, Downslanted palpebral fissures, Optic nerve ... ORPHA:264200
Severe Generalized Junctional Epidermolysis Bullosa
Pneumothorax, Respiratory distress, Dyspnea, Fragile skin, Pneumonia, Respiratory failure ORPHA:79404
Hunter-Macdonald Syndrome
Short palpebral fissure, Clinodactyly of the 5th finger, 2-3 toe syndactyly, Camptodactyly, Metat... OMIM:611962
Ulnar Agenesis And Endocardial Fibroelastosis
Neonatal death, Endocardial fibroelastosis OMIM:276822
Flna-Related X-Linked Myxomatous Valvular Dysplasia
Bicuspid aortic valve, Bilateral ptosis, Mitral valve prolapse, Right atrial enlargement ORPHA:555877
Hypertrophic Osteoarthropathy, Primary, Autosomal Recessive, 1
Arthritis, Seborrheic dermatitis, High palate, Eczematoid dermatitis, Ptosis OMIM:259100
Restrictive Dermopathy
Short palpebral fissure, Entropion, Sparse or absent eyelashes, Telecanthus, Downslanted palpebra... ORPHA:1662
Frontonasal Dysplasia 2
Short palpebral fissure, Microphthalmia, Telecanthus, Bilateral cryptorchidism, Sparse eyelashes,... OMIM:613451
Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Impaired Intellectual Development, And Ear Anomalies Syndrome
Highly arched eyebrow, Sparse hair, Umbilical hernia, Fine hair, Transposition of the great arter... OMIM:280000
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly
Pulmonary hypoplasia OMIM:263520
Inflammatory Bowel Disease, Immunodeficiency, And Encephalopathy
Perianal abscess, Anoperineal fistula, Increased circulating IgG level, Pancolitis, Increased cir... OMIM:618213
Rajab Interstitial Lung Disease With Brain Calcifications 1
Abnormal pulmonary interstitial morphology, Emphysema, Respiratory insufficiency, Respiratory fai... OMIM:613658
Congenital Lethal Erythroderma
Congenital exfoliative erythroderma ORPHA:1954
Erythrokeratodermia Variabilis Et Progressiva 1
Erythroderma OMIM:133200
Kenny-Caffey Syndrome, Type 2
Microphthalmia, Hypoparathyroidism, Retinal calcification, Papilledema, Developmental cataract OMIM:127000
Classic Hodgkin Lymphoma
Anorexia, Skin rash, Poor appetite, Weight loss ORPHA:391
Isolated Congenital Alacrima
Corneal erosion, Lacrimal gland hypoplasia, Distichiasis, Ptosis, Keratitis, Conjunctivitis, Lacr... ORPHA:91416
Ring Chromosome 10 Syndrome
Downslanted palpebral fissures, Microphthalmia, Aganglionic megacolon ORPHA:1438
Intellectual Developmental Disorder, Autosomal Dominant 53
Intestinal malrotation, Downslanted palpebral fissures, Epicanthus, Gastrointestinal dysmotility,... OMIM:617798
Ichthyosis, Congenital, Autosomal Recessive 10
Erythroderma OMIM:615024
Arrhythmogenic Right Ventricular Dysplasia, Familial, 10
Epsilon wave, Right ventricular cardiomyopathy, Palpitations, Right bundle branch block, Prematur... OMIM:610193
Meier-Gorlin Syndrome 1
Short palpebral fissure, Emphysema, Respiratory distress, Death in infancy, Long eyelashes, Bleph... OMIM:224690
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate Syndrome
Dystrophic fingernails, Hyperconvex fingernails, Dystrophic toenail, Sparse eyelashes, Sparse eye... ORPHA:1071
Van Den Ende-Gupta Syndrome
High, narrow palate, Camptodactyly of 2nd-5th fingers, Elbow flexion contracture, High palate, Ca... OMIM:600920
Mitochondrial Phosphate Carrier Deficiency
Respiratory insufficiency, Cyanosis OMIM:610773
Amyloidosis, Hereditary, Transthyretin-Related
Cardiomyopathy, Ptosis, Orthostatic hypotension due to autonomic dysfunction, Cardiomegaly, Amylo... OMIM:105210
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome
Congestive heart failure, Panniculitis, Noncompaction cardiomyopathy, Tricuspid regurgitation, Ec... ORPHA:508542
Char Syndrome
Ptosis, Downslanted palpebral fissures, Ventricular septal defect, Supernumerary nipple ORPHA:46627
Epidermolytic Hyperkeratosis 1
Erythroderma OMIM:113800
Epidermolytic Hyperkeratosis 2A, Autosomal Dominant
Erythroderma OMIM:620150
Adult-Onset Still Disease
Abnormal circulating lipid concentration, Myocarditis, Elevated circulating C-reactive protein co... ORPHA:829
Omenn Syndrome
Hepatomegaly, Erythroderma, Hypoplasia of the thymus, Splenomegaly, Pneumonia, Alopecia OMIM:603554
X-Linked Intellectual Disability, Armfield Type
Inguinal hernia, Downslanted palpebral fissures, Cleft palate, Epicanthus, Cataract, Cryptorchidi... ORPHA:85276
Neurodevelopmental Disorder With Dysmorphic Facies And Skeletal And Brain Abnormalities
Short palpebral fissure, Telecanthus, Hirsutism, Ventricular septal defect, Upslanted palpebral f... OMIM:620073
Infantile-Onset X-Linked Spinal Muscular Atrophy
Respiratory insufficiency, Respiratory distress ORPHA:1145
Osteootohepatoenteric Syndrome
Increased intestinal transit time, Increased serum bile acid concentration, Hypokalemia, Episodic... OMIM:619377
Plague
Hematemesis, Carbuncle, Inflammatory abnormality of the eye, Acute infectious pneumonia, Skin ras... ORPHA:707
Filippi Syndrome
Aplastic/hypoplastic toenail, Small nail, Downslanted palpebral fissures, Ventricular septal defe... ORPHA:3255
New-Onset Refractory Status Epilepticus
Abnormal circulating interleukin concentration, Infectious encephalitis ORPHA:363558
Progressive Supranuclear Palsy-Corticobasal Syndrome
Respiratory distress ORPHA:240103
Tmem70-Related Mitochondrial Encephalo-Cardio-Myopathy
Respiratory failure, Death in infancy ORPHA:1194
Mgat2-Cdg
Respiratory distress, Downslanted palpebral fissures, Recurrent upper and lower respiratory tract... ORPHA:79329
Juvenile Dermatomyositis
Calcinosis, Gastrointestinal hemorrhage, Elevated circulating C-reactive protein concentration, M... ORPHA:93672
Von Hippel-Lindau Syndrome
Polycythemia OMIM:193300
Kleefstra Syndrome
Chronic otitis media, Gastroesophageal reflux, Highly arched eyebrow, Upslanted palpebral fissure... ORPHA:261494
Osteopenia-Intellectual Disability-Sparse Hair Syndrome
Fine hair, Sparse scalp hair ORPHA:2324
Takayasu Arteritis
Anorexia, Gastrointestinal infarctions, Inflammatory abnormality of the eye, Arthritis, Weight lo... ORPHA:3287
Short-Rib Thoracic Dysplasia 16 With Or Without Polydactyly
Telecanthus, Respiratory distress OMIM:617102
Ciliary Dyskinesia, Primary, 53
Situs inversus totalis, Perimembranous ventricular septal defect, Patent foramen ovale, Pulmonary... OMIM:620642
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency
Chronic oral candidiasis, Abnormal immunoglobulin level, Increased circulating IgG level, Diarrhe... ORPHA:276
Mucopolysaccharidosis, Type Iiid
Hepatomegaly, Recurrent otitis media, Facial hirsutism, Inguinal hernia, Hirsutism, Elbow flexion... OMIM:252940
Aortic Aneurysm, Familial Thoracic 9
Mitral valve prolapse OMIM:616166
Juvenile Polyposis Of Infancy
Gastrointestinal hemorrhage, Rectal prolapse, Protein-losing enteropathy, Melena, High, narrow pa... ORPHA:79076
Geleophysic Dysplasia 1
Short long bone, Tricuspid stenosis, Short foot, Irregular capital femoral epiphysis, Aortic valv... OMIM:231050
Rod-Cone Dystrophy, Sensorineural Deafness, And Fanconi-Type Renal Dysfunction
Optic atrophy, Bone spicule pigmentation of the retina, Cataract, Rod-cone dystrophy, Optic disc ... OMIM:268315
Cornelia De Lange Syndrome 1
Congenital diaphragmatic hernia, Highly arched eyebrow, Low posterior hairline, Malrotation of co... OMIM:122470
Combined Oxidative Phosphorylation Deficiency 4
Respiratory failure, Death in infancy OMIM:610678
Distichiasis With Congenital Anomalies Of The Heart And Peripheral Vasculature
Ventricular septal defect, Distichiasis, Sinus bradycardia OMIM:126320
Pelger-Huet Anomaly
Recurrent otitis media, Median cleft palate, Eczematoid dermatitis, Lower limb hypertonia, Foot d... OMIM:169400
Metatropic Dysplasia
Respiratory insufficiency, Respiratory failure OMIM:156530
Arterial Calcification, Generalized, Of Infancy, 2
Congestive heart failure, Reduced left ventricular ejection fraction, Hypertension, Sinus tachyca... OMIM:614473
Neurofibromatosis-Noonan Syndrome
Low posterior hairline, Pulmonic stenosis, Ptosis, Downslanted palpebral fissures, Secundum atria... OMIM:601321
Pseudo-Torch Syndrome 3
Hypertension, Lymphadenitis, Death in infancy, Cerebral hemorrhage, Cardiomegaly OMIM:618886
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome
Polycythemia, Splenomegaly ORPHA:309854
Erythrokeratodermia Variabilis Et Progressiva 6
Superficial dermal perivascular inflammatory infiltrate, Pruritus, Abnormal hair morphology OMIM:618531
Congenital Heart Defects And Skeletal Malformations Syndrome
Congenital diaphragmatic hernia, Medial flaring of the eyebrow, Repeated pneumothoraces, High pal... OMIM:617602
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2
Hepatomegaly, Small nail, Seborrheic dermatitis, Elbow flexion contracture, High palate, Hip cont... OMIM:300868
Adams-Oliver Syndrome 1
Microphthalmia, Small nail, Alopecia, Hypertension, Pulmonary arterial hypertension, Pulmonic ste... OMIM:100300
Hypercholesterolemia, Familial, 3
Corneal arcus, Xanthelasma OMIM:603776
Peripartum Cardiomyopathy
Exertional dyspnea, Dyspnea, Orthopnea, Paroxysmal dyspnea, Respiratory failure ORPHA:563
Pomt1-Related Limb-Girdle Muscular Dystrophy R11
Dyspnea, Respiratory distress ORPHA:86812
Cenani-Lenz Syndactyly Syndrome
Pulmonic stenosis, Downslanted palpebral fissures OMIM:212780
Craniolenticulosutural Dysplasia
Brittle hair, High palate, Posterior Y-sutural cataract, Sparse hair, Coarse hair ORPHA:50814
Genitopalatocardiac Syndrome
Double outlet right ventricle, Transposition of the great arteries, Ventricular septal defect, Cl... OMIM:231060
Lethal Recessive Chondrodysplasia
Respiratory distress ORPHA:1423
Microscopic Polyangiitis
Congestive heart failure, Gastrointestinal hemorrhage, Gastrointestinal infarctions, Pancreatitis... ORPHA:727
Carney Complex, Type 1
Congestive heart failure, Multiple lentigines, Red hair, Cardiac myxoma, Hirsutism, Profuse pigme... OMIM:160980
Congenital Erythropoietic Porphyria
Ectropion, Scarring, Loss of eyelashes, Corneal ulceration, Scarring alopecia of scalp, Increased... ORPHA:79277
Brachycephaly, Trichomegaly, And Developmental Delay
Brittle hair, Highly arched eyebrow, High palate, Synophrys, Long eyelashes, Bifid uvula, Thick e... OMIM:617412
Sneddon Syndrome
Bicuspid aortic valve OMIM:182410
3-Methylglutaconic Aciduria, Type Viib
Recurrent pneumonia, Respiratory distress OMIM:616271
Ventricular Septal Defect 3
Pulmonary artery stenosis, Atrial septal defect, Ventricular septal defect OMIM:614432
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Telecanthus, Respiratory distress, Long eyelashes, Epicanthus, Conjunctivitis, Recurrent respirat... ORPHA:505248
Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures
Situs inversus totalis, Optic nerve hypoplasia, Microphthalmia, Flexion contracture OMIM:614833
Kawasaki Disease
Myocarditis, Congestive heart failure, Abnormality of nail color, Cheilitis, Glossitis, Abnormal ... ORPHA:2331
16P13.11 Microduplication Syndrome
Ventricular septal defect, Atrial septal defect, Transposition of the great arteries, Tetralogy o... ORPHA:261243
Koolen-De Vries Syndrome Due To A Point Mutation
Cardiomyopathy, Pulmonic stenosis, Abnormal heart morphology, Bicuspid aortic valve, Optic atroph... ORPHA:363965
17Q21.31 Microdeletion Syndrome
Cardiomyopathy, Pulmonic stenosis, Abnormal heart morphology, Bicuspid aortic valve, Optic atroph... ORPHA:363958
Tetraamelia Syndrome 1
Pulmonary hypoplasia, Peripheral pulmonary vessel aplasia OMIM:273395
Mitochondrial Complex I Deficiency, Nuclear Type 1
Respiratory insufficiency, Death in infancy, Ptosis, Apnea, Respiratory failure, Cyanosis, Upslan... OMIM:252010
Craniofacial Microsomia 1
Microphthalmia, Upper eyelid coloboma, Anophthalmia, Ptosis, Cleft palate, Tetralogy of Fallot, L... OMIM:164210
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1
Long palpebral fissure, Ptosis, Skeletal muscle atrophy, Knee flexion contracture, Atrial septal ... OMIM:603387
Frontometaphyseal Dysplasia
Astigmatism, Elbow flexion contracture, Wrist flexion contracture, Interphalangeal joint contract... ORPHA:1826
Joubert Syndrome 18
Occipital encephalocele, Camptodactyly, Cleft palate, Lobulated tongue, Ventricular septal defect OMIM:614815
Idiopathic Neonatal Atrial Flutter
Tachypnea, Respiratory distress ORPHA:45452
Hypercholesterolemia, Familial, 1
Corneal arcus, Xanthelasma OMIM:143890
Coffin-Siris Syndrome 1
Congenital diaphragmatic hernia, Duodenal ulcer, Intestinal malrotation, Umbilical hernia, Intuss... OMIM:135900
Granulomatosis With Polyangiitis
Chronic otitis media, Localized pulmonary hemorrhage, Retinal hemorrhage, Episcleritis, Sinusitis... OMIM:608710
Corpus Callosum, Agenesis Of, With Facial Anomalies And Robin Sequence
Short palpebral fissure, Telecanthus, Respiratory distress, Ptosis, Neonatal respiratory distress... OMIM:217980
Olmsted Syndrome 2
Alopecia universalis, Cheilitis, Woolly hair, Sparse hair OMIM:619208
Fetal Hydantoin Syndrome
Hypoplastic fingernail, Low posterior hairline, Ptosis, Cleft palate, Epicanthus, Hernia, Cryptor... ORPHA:1912
Lujo Hemorrhagic Fever
Ecchymosis, Purpura, Atelectasis, Respiratory distress ORPHA:319213
Dermatomyositis
Abnormal pulmonary interstitial morphology, Facial erythema, V-sign, Cutaneous photosensitivity, ... ORPHA:221
Müllerian Aplasia And Hyperandrogenism
High anterior hairline, Frontal balding, Facial hirsutism, Hirsutism, Abnormality of the ovary, S... ORPHA:247768
Gorlin Syndrome
Telecanthus, Ovarian fibroma, Cardiac fibroma, Epicanthus, Cataract, Cryptorchidism, Iris coloboma ORPHA:377
Sting-Associated Vasculopathy, Infantile-Onset
Nail dystrophy, Elevated circulating C-reactive protein concentration, Increased circulating IgG ... OMIM:615934
Immunodeficiency 25
Erythroderma, Recurrent pneumonia OMIM:610163
Diamond-Blackfan Anemia 6
Ventricular hypertrophy, Bifid uvula, Tetralogy of Fallot, Cleft palate, Mitral valve prolapse, A... OMIM:612561
Bronchogenic Cyst
Pneumonia, Abnormal esophagus morphology, Abnormal pericardium morphology, Abnormal myocardium mo... ORPHA:2357
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 1
Perimembranous ventricular septal defect, Transposition of the great arteries, Synophrys, Pulmoni... OMIM:617877
Corpus Callosum, Agenesis Of, With Impaired Intellectual Development, Ocular Coloboma, And Micrognathia
High palate, Downslanted palpebral fissures, Recurrent pneumonia, Recurrent aspiration pneumonia,... OMIM:300472
Fragile X Syndrome
Chronic otitis media, Gastroesophageal reflux, Sinusitis, Mitral valve prolapse, Otitis media, Ma... ORPHA:908
Microcephaly, Cerebellar Hypoplasia, And Cardiac Conduction Defect Syndrome
Long eyebrows, Acrocyanosis OMIM:614407
Primary Microcephaly-Mild Intellectual Disability-Young-Onset Diabetes Syndrome
Synophrys, Downslanted palpebral fissures, Low anterior hairline, Sparse hair, Epicanthus, Dorsoc... ORPHA:391408
Dysferlin-Related Limb-Girdle Muscular Dystrophy R2
Proximal muscle weakness in upper limbs, Reduced left ventricular ejection fraction, Calf muscle ... ORPHA:268
Microcephaly, Short Stature, And Impaired Glucose Metabolism 2
Downslanted palpebral fissures, Epicanthus, Sparse hair, Fine hair, Cryptorchidism OMIM:616817
Musculocontractural Ehlers-Danlos Syndrome
Pneumothorax, Astigmatism, Abnormal heart valve morphology, High palate, Downslanted palpebral fi... ORPHA:2953
Immunodeficiency By Defective Expression Of Mhc Class Ii
Acute otitis media, Panhypogammaglobulinemia, Sclerosing cholangitis, Diarrhea, Skin rash, Decrea... ORPHA:572
Ectodermal Dysplasia 12, Hypohidrotic/Hair/Tooth/Nail Type
Trichorrhexis nodosa, Nail dystrophy, Scarring alopecia of scalp, Eczematoid dermatitis, Sparse l... OMIM:617337
Holoprosencephaly 7
Bilateral microphthalmos, Microphthalmia, Bilateral cleft palate, Panhypopituitarism, Unilateral ... OMIM:610828
Cowden Syndrome 1
Angioid streaks of the fundus, Thyroiditis, High palate, Furrowed tongue, Subcutaneous lipoma, Ha... OMIM:158350
Neuropathy, Hereditary Sensory And Autonomic, Type Iii
Acrocyanosis, Recurrent infections due to aspiration OMIM:223900
Neuroendocrine Tumor Of The Colon
Anorexia, Bowel urgency, Melena, Abdominal pain, Hypoactive bowel sounds, Bloody diarrhea, Lack o... ORPHA:100080
Neu-Laxova Syndrome 2
Cataract, Cleft palate, High palate, Ablepharon OMIM:616038
Huntington Disease
Oral-pharyngeal dysphagia, Decreased body mass index, Abnormal circulating cholesterol concentrat... ORPHA:399
Arboleda-Tham Syndrome
Chronic otitis media, Highly arched eyebrow, Pulmonic stenosis, Intestinal malrotation, Recurrent... OMIM:616268
Craniotelencephalic Dysplasia
Optic atrophy, Microphthalmia, Septo-optic dysplasia ORPHA:1528
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome
Atrioventricular canal defect, Abnormality of the gastrointestinal tract, Gastroesophageal reflux... ORPHA:453499
Velocardiofacial Syndrome
Pulmonary artery atresia, Submucous cleft hard palate, Posterior embryotoxon, Velopharyngeal insu... OMIM:192430
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion
Narrow palate, Pneumonia, Gastroesophageal reflux, Coloboma, Pilomatrixoma, Cataract, Cryptorchid... ORPHA:353281
Marfan Syndrome
Downslanted palpebral fissures, Tricuspid valve prolapse, Mitral valve prolapse, Mitral valve cal... ORPHA:558
Autosomal Dominant Intellectual Disability-Craniofacial Anomalies-Cardiac Defects Syndrome
Gastroesophageal reflux, Intestinal malrotation, Ptosis, Cleft palate, Lacrimal duct stenosis, Ep... ORPHA:457193
Mcdonough Syndrome
Cachexia, Synophrys ORPHA:2471
Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked
Intestinal pseudo-obstruction, Congenital shortened small intestine, Intestinal malrotation, Pylo... OMIM:300048
Alfadhel Syndrome
Highly arched eyebrow, Nasal flaring OMIM:620655
Harderoporphyria
Splenomegaly, Hemolytic anemia, Reticulocytosis OMIM:618892
Frank-Ter Haar Syndrome
Downslanted palpebral fissures, Mitral valve prolapse, Acne ORPHA:137834
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation
Microphthalmia, Highly arched eyebrow, Iris atrophy, Pulmonic stenosis, Aortic valve stenosis, Hy... ORPHA:261552
Insulin-Resistance Syndrome Type B
Abnormal circulating lipid concentration, Abnormal salivary gland morphology, Hypotriglyceridemia... ORPHA:2298
Juvenile Xanthogranuloma
Iritis, Hyphema, Blepharitis, Asymmetry of iris pigmentation, Uveitis ORPHA:158000
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 2
Inguinal hernia, Hypertension, Hypertrophic cardiomyopathy, Umbilical hernia, Arrhythmia, Catarac... OMIM:614052
Rh Deficiency Syndrome
Macrocytic anemia, Hypochromia, Spherocytosis, Reticulocytosis, Anisocytosis, Hepatosplenomegaly,... ORPHA:71275
Cardiac, Facial, And Digital Anomalies With Developmental Delay
Abnormal number of hair whorls, Telecanthus, Pulmonary artery atresia, Supravalvar pulmonary sten... OMIM:618164
Transaldolase Deficiency
Hepatomegaly, Patent foramen ovale, Synophrys, Hepatosplenomegaly, Splenomegaly, Atrial septal de... OMIM:606003
Hypoparathyroidism, Familial Isolated, 1
Cataract, Hypoparathyroidism OMIM:146200
Meckel Syndrome, Type 1
Microphthalmia, Abnormal cardiac septum morphology, Anal atresia, Bile duct proliferation, Omphal... OMIM:249000
Delpire-Mcneill Syndrome
Ventricular septal defect, Dysphagia, Tracheoesophageal fistula OMIM:619083
Mandibulofacial Dysostosis, Guion-Almeida Type
Esophageal atresia, Telecanthus, Downslanted palpebral fissures, Cleft palate, Epicanthus, Atrial... OMIM:610536
Dysbetalipoproteinemia
Corneal arcus, Xanthelasma, Hepatomegaly, Angina pectoris, Acute pancreatitis, Gout ORPHA:412
Juvenile Huntington Disease
Weight loss ORPHA:248111
Buerger Disease
Livedo reticularis, Acrocyanosis ORPHA:36258
Chronic Graft Versus Host Disease
Recurrent corneal erosions, Nail dystrophy, Abnormal esophagus physiology, Gastroesophageal reflu... ORPHA:99921
Wolfram Syndrome 2
Impaired collagen-induced platelet aggregation, Decreased circulating antibody level OMIM:604928
Warsaw Breakage Syndrome
Hypermelanotic macule, High palate, Tetralogy of Fallot, Optic disc coloboma, Epicanthus, Ventric... OMIM:613398
Cornelia De Lange Syndrome
Congenital diaphragmatic hernia, Highly arched eyebrow, Low posterior hairline, Intestinal malrot... ORPHA:199
Follicular Lymphoma
Weight loss ORPHA:545
Hughes-Stovin Syndrome
Pulmonary artery aneurysm, Dyspnea, Cardiorespiratory arrest ORPHA:228116
Leptospirosis
Hepatomegaly, Optic neuritis, Skin rash, Chorioretinitis, Macular cotton wool spot, Retinal hemor... ORPHA:509
Dextrocardia
Abnormal lung lobation, Situs inversus totalis, Dextrocardia, Meckel diverticulum, Intestinal mal... ORPHA:1666
Cleft Lip/Palate-Ectodermal Dysplasia Syndrome
Nail dysplasia, Brittle hair, Progressive hypotrichosis, Atopic dermatitis, Sparse eyelashes, Spa... OMIM:225060
Diarrhea 12, With Microvillus Atrophy
Microvillar PAS-positive secretory granules, Respiratory tract infection, Bronchiectasis, Microvi... OMIM:619445
Alzahrani-Kuwahara Syndrome
Astigmatism, Patent foramen ovale, Coronary sinus enlargement, Eczematoid dermatitis, Cataract, A... OMIM:619268
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation
Telecanthus, Respiratory distress, Long palpebral fissure, Epicanthus, Upslanted palpebral fissure ORPHA:438216
Smith-Lemli-Opitz Syndrome
Abnormal lung lobation, Death in infancy, Ptosis, Severe photosensitivity, Pulmonary hypoplasia, ... OMIM:270400
Odontochondrodysplasia
Respiratory distress, Death in infancy ORPHA:166272
Grange Syndrome
Ventricular septal defect, Hypertension, Aortic regurgitation ORPHA:79094
Autosomal Recessive Robinow Syndrome
Chronic otitis media, Death in infancy, Umbilical hernia, Abnormal tricuspid valve morphology, Do... ORPHA:1507
Marshall-Smith Syndrome
Highly arched eyebrow, Optic nerve hypoplasia, Hypertension, Glossoptosis, Premature ventricular ... OMIM:602535
Pemphigus Foliaceus
Pustule, Erythroderma, Psoriasiform dermatitis, Crusting erythematous dermatitis, Pruritus ORPHA:79481
Phosphoserine Aminotransferase Deficiency, Infantile/Juvenile Form
Cyanotic episode ORPHA:284417
Mast Cell Sarcoma
Weight loss ORPHA:66661
Witteveen-Kolk Syndrome
Congenital diaphragmatic hernia, Microphthalmia, Shallow orbits, Hyperconvex nail, Fine hair, Glu... OMIM:613406
Opitz Gbbb Syndrome
Rectourethral fistula, Telecanthus, Gastroesophageal reflux, High palate, Anal atresia, Cleft pal... OMIM:300000
Bullous Pemphigoid
Psoriasiform dermatitis, Weight loss, Eczematoid dermatitis ORPHA:703
Congenital Disorder Of Glycosylation, Type Ix
Death in childhood, Respiratory distress OMIM:615597
Neuropathy, Hereditary Motor And Sensory, Type Vib, With Optic Atrophy
Respiratory failure OMIM:616505
Laryngotracheoesophageal Cleft Type 4
Cachexia, Intestinal atresia, Tracheoesophageal fistula ORPHA:93941
Carnitine-Acylcarnitine Translocase Deficiency
Respiratory insufficiency, Cyanosis, Sudden episodic apnea ORPHA:159
Retinitis Pigmentosa With Or Without Skeletal Anomalies
High anterior hairline, Small nail, Sparse eyelashes, Cafe-au-lait spot, Sparse eyebrow, Downslan... OMIM:250410
Pgm3-Cdg
Chronic otitis media, Gastroesophageal reflux, Increased circulating IgG level, Increased circula... ORPHA:443811
Hypercholesterolemia, Familial, 2
Corneal arcus, Xanthelasma OMIM:144010
Spondyloarthropathy, Susceptibility To, 1
Hip osteoarthritis, Inflammation of the large intestine, Sacroiliac arthritis, Enthesitis, Anteri... OMIM:106300
Fibulo-Ulnar Hypoplasia-Renal Anomalies Syndrome
Downslanted palpebral fissures, Ventricular septal defect ORPHA:2256
Telangiectasia, Hereditary Hemorrhagic, Type 2
Tongue telangiectasia, Oral cavity telangiectasia, Nail bed telangiectasia, Lip telangiectasia, G... OMIM:600376
Cadds
Cataract, Cholangitis ORPHA:369942
Sotos Syndrome
Narrow palate, High anterior hairline, Muscular ventricular septal defect, High, narrow palate, G... OMIM:117550
Graves Disease
Onycholysis, Weight loss OMIM:275000
Spinocerebellar Ataxia 34
Erythroderma OMIM:133190
Muscular Dystrophy, Duchenne Type
Hypoventilation, Respiratory failure, Respiratory insufficiency due to muscle weakness OMIM:310200
Oculocutaneous Albinism Type 2
Blue irides, Iris transillumination defect, Hypopigmentation of hair, Hyperpigmented nevi, Hypopi... ORPHA:79432
Thyrotoxic Periodic Paralysis, Susceptibility To, 1
Hypokalemia, Weight loss OMIM:188580
Autoerythrocyte Sensitization Syndrome
Autoimmune thrombocytopenia, Thrombocytosis, Impaired platelet adhesion ORPHA:324636
Non-Functioning Paraganglioma
Nausea, Hypercalcemia, Episodic abdominal pain, Weight loss ORPHA:94080
Bone Dysplasia, Lethal Holmgren Type
Nausea and vomiting, Failure to thrive, Diarrhea, Weight loss ORPHA:1842
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14
Short palpebral fissure, Miscarriage, Pulmonary artery stenosis, Pulmonary hypoplasia, Epicanthus... ORPHA:96334
Macrocephaly/Autism Syndrome
Large for gestational age, Recurrent otitis media, Decreased circulating antibody level, High pal... OMIM:605309
Periventricular Nodular Heterotopia 7
Cleft palate, Contracture of the proximal interphalangeal joint of the 3rd finger, Knee flexion c... OMIM:617201
Mitochondrial Complex Iv Deficiency, Nuclear Type 10
Microphthalmia, Hepatomegaly, High palate, Hypertrophic cardiomyopathy OMIM:619053
Cardiofacioneurodevelopmental Syndrome
Atrioventricular canal defect, Camptodactyly, Cryptorchidism, Pulmonic stenosis, Cleft palate, Ap... OMIM:619123
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Severe Form
Gastrointestinal inflammation, Nail dystrophy, Corneal erosion, Foot joint contracture, Anal fiss... ORPHA:79408
Cocaine Intoxication
Pneumothorax, Pulmonary edema, Respiratory distress, Diffuse alveolar hemorrhage, Tachypnea, Hype... ORPHA:90068
Immunodeficiency 12
Cheilitis, Absent isohemagglutinin level, Recurrent aphthous stomatitis, Complete or near-complet... OMIM:615468
Acrocardiofacial Syndrome
Truncus arteriosus, Anal atresia, Death in infancy, Long eyelashes, Camptodactyly of finger, Mitr... ORPHA:2008
Developmental And Epileptic Encephalopathy 95
Hepatomegaly, Highly arched eyebrow, Arthrogryposis multiplex congenita, Umbilical hernia, Cardio... OMIM:618143
Heart And Brain Malformation Syndrome
High, narrow palate, Microphthalmia, Gastroesophageal reflux, Camptodactyly of finger, Ventricula... OMIM:616920
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 1
Respiratory failure, Death in childhood, Bradypnea OMIM:617186
Satb2-Associated Syndrome Due To A Chromosomal Rearrangement
Coloboma, High palate, Cryptorchidism, Decreased testicular size, Downslanted palpebral fissures,... ORPHA:251028
Spinocerebellar Ataxia Type 1
Respiratory failure ORPHA:98755
Hypohidrotic Ectodermal Dysplasia
Irregular hyperpigmentation, Trichorrhexis nodosa, Breast aplasia, Abnormality of the nail, Abnor... ORPHA:238468
Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment
Congestive heart failure, Cardiomegaly, Aortic regurgitation, Partial atrioventricular canal defe... OMIM:620066
Lysinuric Protein Intolerance
Pancreatitis, Protein avoidance, Diarrhea, Intraalveolar phospholipid accumulation, Vomiting, Fai... OMIM:222700
Diamond-Blackfan Anemia 21
Aortic regurgitation, Synophrys, Horizontal eyebrow, Downslanted palpebral fissures, Secundum atr... OMIM:620072
Feingold Syndrome 1
Short palpebral fissure, Tricuspid atresia, Tricuspid stenosis, Epicanthus, Narrow palpebral fiss... OMIM:164280
Corpus Callosum Agenesis-Intellectual Disability-Coloboma-Micrognathia Syndrome
High palate, Downslanted palpebral fissures, Cleft palate, Optic disc coloboma, Ventricular septa... ORPHA:52055
Oculocutaneous Albinism Type 4
Hypopigmentation of hair, White hair, Hypopigmentation of the skin, Iris hypopigmentation, Abnorm... ORPHA:79435
Feingold Syndrome Type 1
Short palpebral fissure, Tricuspid atresia, Clinodactyly of the 5th finger, 2-3 toe syndactyly, S... ORPHA:391641
Kaposi Sarcoma
Diarrhea, Skin rash, Abnormality of the gastrointestinal tract, Weight loss ORPHA:33276
Intellectual Developmental Disorder, Autosomal Dominant 43
Pulmonic stenosis, Upslanted palpebral fissure, Synophrys OMIM:616977
Hyper-Ige Syndrome 1, Autosomal Dominant, With Recurrent Infections
Duodenal ulcer, Skin rash, Dysphagia, Early satiety, Recurrent cutaneous abscess formation, Gastr... OMIM:147060
Cystinosis, Adult Nonnephropathic
Corneal crystals, Abnormal retinal morphology OMIM:219750
Trisomy 8P
Abnormal lung lobation, Astigmatism, Abnormal left ventricle morphology, Upslanted palpebral fiss... ORPHA:264450
Holoprosencephaly 2
Microphthalmia, Cyclopia, Single ventricle, Anterior pituitary agenesis, Bilateral cleft palate, ... OMIM:157170
Cranioectodermal Dysplasia 1
High, narrow palate, Hepatomegaly, Thin nail, Retinal dystrophy, Telecanthus, Slow-growing hair, ... OMIM:218330
Bohring-Opitz Syndrome
Optic atrophy, Annular pancreas, Cholelithiasis, Bradycardia, Coloboma, Retinal atrophy, Bilatera... ORPHA:97297
Orofaciodigital Syndrome Type 4
Recurrent respiratory infections, Pulmonary hypoplasia, Bilateral lung agenesis ORPHA:2753
Grange Syndrome
Coronary artery stenosis, Syndactyly, Brachydactyly, Bicuspid aortic valve, Finger clinodactyly OMIM:602531
Diaphanospondylodysostosis
Respiratory distress ORPHA:66637
Fraser Syndrome
Abnormal lung lobation, Death in infancy, Cryptophthalmos, Pulmonary hypoplasia, Lacrimal duct ap... ORPHA:2052
Brachial Amelia, Cleft Lip, And Holoprosencephaly
Anterior encephalocele, Coloboma, Ventricular septal defect, Bilateral cleft palate OMIM:601357
Schinzel-Giedion Syndrome
Respiratory distress, Recurrent pneumonia, Pulmonary hypoplasia, Shallow orbits ORPHA:798
Boutonneuse Fever
Petechiae, Respiratory failure ORPHA:83313
Dental Anomalies And Short Stature
Mitral valve prolapse OMIM:601216
Epidermodysplasia Verruciformis
Seborrheic dermatitis, Pustule, Telangiectasia of the skin, Recurrent skin infections ORPHA:302
Frontometaphyseal Dysplasia 2
Gastroesophageal reflux, Patent foramen ovale, Hirsutism, High palate, Pulmonic stenosis, Pyloric... OMIM:617137
Odontoonychodermal Dysplasia
Nail dysplasia, Dystrophic fingernails, Thin nail, Ridged nail, Smooth tongue, Dystrophic toenail... OMIM:257980
Neurodevelopmental Disorder With Seizures, Spasticity, And Complete Or Partial Agenesis Of The Corpus Callosum
Narrow palate, Gastroesophageal reflux, Synophrys, Long eyelashes, Downslanted palpebral fissures... OMIM:620250
X-Linked Creatine Transporter Deficiency
Aganglionic megacolon, Cachexia, Constipation, Abnormal circulating creatine concentration, Ileus ORPHA:52503
Trisomy 20P
Thick hair, Inguinal hernia, Highly arched eyebrow, Ectopic anus, Low posterior hairline, Umbilic... ORPHA:261318
Tarp Syndrome
Short palpebral fissure, Meckel diverticulum, Glossoptosis, High palate, Neonatal death, Tetralog... OMIM:311900
Midface Hypoplasia, Hearing Impairment, Elliptocytosis, And Nephrocalcinosis
Cleft hard palate, Patent foramen ovale, Synophrys, Downslanted palpebral fissures, Bifid uvula, ... OMIM:300990
Diarrhea 5, With Tufting Enteropathy, Congenital
Arthritis, Crypt hyperplasia, Villous atrophy OMIM:613217
Cystinosis, Late-Onset Juvenile Or Adolescent Nephropathic Type
Retinopathy, Corneal crystals, Retinal pigment epithelial mottling OMIM:219900
Myopathy With Extrapyramidal Signs
Hepatomegaly, Calf muscle hypertrophy, Ptosis, Splenomegaly, Epicanthus, Ventricular septal defect OMIM:615673
Mowat-Wilson Syndrome Due To Monosomy 2Q22
Microphthalmia, Pulmonic stenosis, Aortic valve stenosis, Abnormal heart morphology, Bifid uvula,... ORPHA:261537
Perry Syndrome
Weight loss ORPHA:178509
Dyskeratosis Congenita, X-Linked
Optic atrophy, Premature graying of hair, Nail dystrophy, Pterygium of nails, Ridged nail, Pteryg... OMIM:305000
Hajdu-Cheney Syndrome
Telecanthus, Hirsutism, High palate, Long eyelashes, Synophrys, Intestinal malrotation, Short nai... OMIM:102500
Psoriasis-Related Juvenile Idiopathic Arthritis
Iritis, Malar rash, Skin rash, Oligoarthritis, Onycholysis, Nail pits, Sacroiliac arthritis, Enth... ORPHA:85436
Diabetic Embryopathy
Transposition of the great arteries, Cleft palate, Tetralogy of Fallot, Aplasia/Hypoplasia of the... ORPHA:1926
Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome
Sclerosing cholangitis, Increased circulating IgG level, Inflammation of the large intestine, Inc... ORPHA:562639
Opitz Gbbb Syndrome
Congenital diaphragmatic hernia, Telecanthus, Patent foramen ovale, Ectopic anus, High palate, Tr... ORPHA:2745
Glycogen Storage Disease Ii
Increased muscle glycogen content, Hepatomegaly, Wolff-Parkinson-White syndrome, Right axis devia... OMIM:232300
Heme Oxygenase 1 Deficiency
Increased circulating interleukin 6 concentration, Elevated circulating C-reactive protein concen... OMIM:614034
Holoprosencephaly 9
Microphthalmia, Decreased response to growth hormone stimulation test, Anterior pituitary agenesi... OMIM:610829
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia
Popliteal pterygium, Microphthalmia, Inguinal hernia, High palate, Total anomalous pulmonary veno... OMIM:609945
Distal 22Q11.2 Microdeletion Syndrome
High, narrow palate, Aortic regurgitation, Recurrent respiratory infections, Highly arched eyebro... ORPHA:261330
Werner Syndrome
Cataract, Retinal degeneration, Alopecia of scalp OMIM:277700
Interstitial Granulomatous Dermatitis With Arthritis
Rheumatoid arthritis, Inflammatory abnormality of the skin, Pruritus, Elevated circulating C-reac... ORPHA:79099
Coffin-Siris Syndrome
Small nail, Hypoplastic fifth toenail, Hirsutism, Sparse scalp hair, Aspiration pneumonia, Ptosis... ORPHA:1465
Isotretinoin-Like Syndrome
Abnormal cardiac ventricle morphology, Aortic valve stenosis, Bicuspid aortic valve, Conotruncal ... ORPHA:2306
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema
Increased mean corpuscular hemoglobin concentration, Increased red cell hemolysis by shear stress... OMIM:194380
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria
Ptosis, Recurrent respiratory infections, Apnea, Respiratory distress ORPHA:17
Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1A
Popliteal pterygium, Multiple pterygia, Elbow flexion contracture, Camptodactyly, Arthrogryposis ... OMIM:178110
Fanconi Anemia, Complementation Group N
Microphthalmia, Anal atresia, Epicanthus, Atrial septal defect, Ventricular septal defect OMIM:610832
Osteogenesis Imperfecta
Abnormal endocardium morphology, Intestinal obstruction, Aortic regurgitation, Inguinal hernia, A... ORPHA:666
Agammaglobulinemia 9, Autosomal Recessive
Failure to thrive, Agammaglobulinemia, Seborrheic dermatitis, Eczematoid dermatitis OMIM:619693
Cooper-Jabs Syndrome
Congenital diaphragmatic hernia, Camptodactyly of finger, Umbilical hernia, Ventricular septal de... ORPHA:1488
Immunodeficiency 17
Chronic oral candidiasis, Recurrent otitis media, Anoperineal fistula, Chronic diarrhea, Abnormal... OMIM:615607
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Hypermethylation
Large placenta, Diastasis recti, Abnormal heart morphology, Umbilical hernia, Ventricular septal ... ORPHA:254534
Encephalopathy, Ethylmalonic
Petechiae, Acrocyanosis, Death in infancy OMIM:602473
Aortic Aneurysm, Familial Thoracic 12
Bicuspid aortic valve OMIM:619825
3-Methylglutaconic Aciduria, Type Viii
Jaundice, Death in infancy, Respiratory arrest, Neonatal death, Apnea, Respiratory failure, Hypopnea OMIM:617248
Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic
Apnea, Cyanosis OMIM:261680
Hypophosphatemic Rickets, Autosomal Recessive, 2
Pulmonic stenosis OMIM:613312
Diarrhea 7, Protein-Losing Enteropathy Type
Protein-losing enteropathy, Villous atrophy OMIM:615863
Muenke Syndrome
Hypopigmented skin patches, Hypermelanotic macule, High, narrow palate, Hypopigmentation of hair,... ORPHA:53271
Primary Sclerosing Cholangitis
Neoplasm of the gallbladder, Pancreatitis, Cholelithiasis, Abnormal large intestine physiology, A... ORPHA:171
Niemann-Pick Disease Type C
Jaundice, Respiratory insufficiency, Aspiration pneumonia, Abnormal lung morphology, Respiratory ... ORPHA:646
Duane Retraction Syndrome
Irregular hyperpigmentation, Hypopigmented skin patches, Short palpebral fissure, Aniridia, Spina... ORPHA:233
Nephroblastoma
Abdominal pain, Neoplasm of the liver, Weight loss ORPHA:654
Pyruvate Dehydrogenase E1-Alpha Deficiency
Ventricular septal defect, Recurrent aspiration pneumonia, Flexion contracture, Gastroesophageal ... ORPHA:79243
Coffin-Siris Syndrome 4
Pulmonary artery atresia, Sparse scalp hair, Long eyelashes, Pulmonic stenosis, Ptosis, Cleft pal... OMIM:614609
Microcephaly-Seizures-Intellectual Disability-Heart Disease Syndrome
Pulmonary arterial hypertension, Epicanthus, Atrial septal defect, Ventricular septal defect, Sup... ORPHA:2519
Acrodysostosis 2 With Or Without Hormone Resistance
Blue irides, Red hair, Fair hair OMIM:614613
Orofaciodigital Syndrome V
Aganglionic megacolon, High palate, Ankyloglossia, Downslanted palpebral fissures, Unilateral pto... OMIM:174300
Hermansky-Pudlak Syndrome 11
Impaired collagen-induced platelet aggregation, Reduced platelet dense granules OMIM:619172
Microsporidiosis
Intermittent diarrhea, Cachexia, Chronic diarrhea, Sinusitis, Anorexia, Myocarditis, Cholangitis,... ORPHA:2552
Systemic Capillary Leak Syndrome
Myocarditis, Pancreatitis, Diarrhea, Abdominal pain, Pericarditis, Weight loss ORPHA:188
Nodular Non-Suppurative Panniculitis
Panniculitis, Inflammatory abnormality of the eye, Abdominal pain, Weight loss, Nausea and vomiting ORPHA:33577
Ohdo Syndrome, X-Linked
Microphthalmia, High anterior hairline, Inguinal hernia, High palate, Ptosis, Downslanted palpebr... OMIM:300895
Mitochondrial Complex Iv Deficiency, Nuclear Type 2
Irregular respiration, Respiratory distress, Death in infancy OMIM:604377
Erythema Elevatum Diutinum
Skin rash, Increased circulating antibody level ORPHA:90000
Central Core Disease
Abnormal circulating creatine kinase concentration, Elevated circulating creatine kinase concentr... ORPHA:597
Majeed Syndrome
Failure to thrive, Skin rash, Inflammatory abnormality of the skin, Osteomyelitis OMIM:609628
Heart Defects, Congenital, And Other Congenital Anomalies
Perimembranous ventricular septal defect, Transposition of the great arteries, Total absence of t... OMIM:600001
Verheij Syndrome
Coloboma, Truncus arteriosus, Cleft palate, Ventricular septal defect, Branchial cyst OMIM:615583
1P36 Deletion Syndrome
Optic atrophy, Annular pancreas, Gastroesophageal reflux, Abnormal cardiac septum morphology, Abn... ORPHA:1606
Familial Colorectal Cancer Type X
Gastrointestinal hemorrhage, Neoplasm of the rectum, Stomach cancer, Abdominal pain, Hepatocellul... ORPHA:440437
Treacher Collins Syndrome 1
Bilateral microphthalmos, Preauricular hair displacement, Upper eyelid coloboma, Cleft soft palat... OMIM:154500
Thyrotoxic Periodic Paralysis, Susceptibility To, 2
Hypokalemia, Weight loss OMIM:613239
Skeletal Dysplasia, Mild, With Joint Laxity And Advanced Bone Age
Patent foramen ovale, Scapular winging, Tricuspid regurgitation, Downslanted palpebral fissures, ... OMIM:618870
Hypertrophic Osteoarthropathy, Primary, Autosomal Dominant
Ptosis, Seborrheic dermatitis, Acne OMIM:167100
Postinfectious Vasculitis
Gastrointestinal inflammation, Anorexia, Increased circulating antibody level, Elevated circulati... ORPHA:48435
Laryngeal Abductor Paralysis
Cyanosis OMIM:150260
Constricting Bands, Congenital
Abnormal lung lobation, Eyelid coloboma OMIM:217100
Ehlers-Danlos Syndrome, Cardiac Valvular Type
Mitral valve prolapse OMIM:225320
Ermine Phenotype
Hypopigmented skin patches, Irregular hyperpigmentation, Astigmatism, Hypopigmentation of hair, I... ORPHA:999
Arrhinia-Choanal Atresia-Microphthalmia Syndrome
Microphthalmia, Cleft palate, High palate, Inguinal hernia ORPHA:1135
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Hypertriglyceridemia, Hepatocellular adenoma, Pancreatitis, Hyperuricemia, Periodontitis, Thyroid... ORPHA:79259
Schwannomatosis, Vestibular
Retinal hamartoma, Posterior subcapsular cataract, Juvenile posterior subcapsular lenticular opac... OMIM:101000
Polycystic Kidney Disease 1 With Or Without Polycystic Liver Disease
Mitral valve prolapse OMIM:173900
Intellectual Developmental Disorder, X-Linked, Syndromic 34
High, narrow palate, Gastroesophageal reflux, Patent foramen ovale, Ventricular septal defect, Le... OMIM:300967
Familial Pancreatic Carcinoma
Anorexia, Intermittent diarrhea, Intestinal pseudo-obstruction, Abdominal pain, Poor appetite, Co... ORPHA:1333
Developmental And Epileptic Encephalopathy 1
Microphthalmia, Dysphagia OMIM:308350
Idiopathic Localized Lipodystrophy
Inflammatory abnormality of the skin, Pruritus ORPHA:90158
Dyskeratosis Congenita, Autosomal Recessive 1
Nail dystrophy, Pterygium, Small nail, Sparse scalp hair, Sparse eyelashes, Pterygium of nails, O... OMIM:224230
Obesity Due To Prohormone Convertase I Deficiency
Hypopigmentation of the skin, Red hair ORPHA:71528
Obesity Due To Pro-Opiomelanocortin Deficiency
Hypopigmentation of the skin, Red hair ORPHA:71526
Recombinant 8 Syndrome
Chronic otitis media, Abnormal hair morphology, Low posterior hairline, Pulmonary artery stenosis... ORPHA:96167
Sandhoff Disease
Death in childhood, Hepatomegaly, Orthostatic hypotension, Hepatosplenomegaly, Skeletal muscle at... OMIM:268800
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency
Diarrhea, Chronic diarrhea, Increased circulating IgE level, Skin rash, Chronic mucocutaneous can... OMIM:102700
Alg6-Cdg
Macroglossia, Protein-losing enteropathy ORPHA:79320
Late-Onset Isolated Acth Deficiency
Anorexia, Hyperuricemia, Diarrhea, Abdominal pain, Celiac disease, Constipation, Failure to thriv... ORPHA:199299
Chediak-Higashi Syndrome
Hepatomegaly, Hypopigmentation of hair, Silver-gray hair, Periodontitis, Spontaneous, recurrent e... OMIM:214500
Monosomy 13Q34
Pulmonic stenosis, Common atrium, Horizontal eyebrow, Downslanted palpebral fissures, Epicanthus ORPHA:96168
Roberts Syndrome
Microphthalmia, High palate, Wrist flexion contracture, Cleft palate, Sparse hair, Knee flexion c... ORPHA:3103
Solitary Fibrous Tumor
Hypophosphatemic rickets, Constipation, Weight loss, Neoplasm of the liver, Reduced C-peptide level ORPHA:2126
Chronic Diarrhea Due To Glucoamylase Deficiency
Decreased small intestinal mucosa lactase level, Abnormal small intestinal mucosa morphology ORPHA:103907
Cohen Syndrome
Childhood-onset truncal obesity, Decreased response to growth hormone stimulation test, High, nar... OMIM:216550
Obesity And Hypopigmentation
Red hair OMIM:620195
Autosomal Recessive Cutis Laxa Type 1
Pneumothorax, Congestive heart failure, Emphysema, Pyelonephritis, Abnormal cardiac ventricular f... ORPHA:90349
Laubry-Pezzi Syndrome
Elevated pulmonary artery pressure, Congestive heart failure, Perimembranous ventricular septal d... ORPHA:99094
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum
Nail dystrophy, Corneal erosion, Skin rash, Abnormality of the anus, Anterior uveitis, Symblephar... ORPHA:95455
Bardet-Biedl Syndrome
Hypoplasia of the ovary, Hypertension, Cardiomyopathy, Abnormal heart morphology, Astigmatism, Me... ORPHA:110
Glycogen Storage Disease Due To Phosphoglycerate Kinase 1 Deficiency
Decreased hemoglobin concentration, Hemolytic anemia, Reticulocytosis ORPHA:713
Noonan Syndrome With Multiple Lentigines
Abnormal endocardium morphology, Myocardial infarction, Atrioventricular canal defect, Webbed nec... ORPHA:500
Mowat-Wilson Syndrome
Microphthalmia, Pulmonic stenosis, Aortic valve stenosis, Abnormal heart morphology, Bifid uvula,... ORPHA:2152
Al Amyloidosis
Abdominal distention, Gastrointestinal hemorrhage, Abnormal salivary gland morphology, Abnormalit... ORPHA:85443
Familial Idiopathic Dilatation Of The Right Atrium
Paroxysmal atrial fibrillation, Hepatomegaly, Reduced left ventricular ejection fraction, Abnorma... ORPHA:1677
Prader-Willi Syndrome Due To Translocation
Respiratory distress, Recurrent respiratory infections, Upslanted palpebral fissure, Almond-shape... ORPHA:177907
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome
Hypoventilation, Recurrent lower respiratory tract infections, Cardiorespiratory arrest, Recurren... ORPHA:293987
Aggressive Systemic Mastocytosis
Decreased liver function, Anorexia, Gastrointestinal hemorrhage, Diarrhea, Abdominal pain, Abdomi... ORPHA:98850
Polysyndactyly With Cardiac Malformation
Stillbirth, Atrial septal defect, Ventricular septal defect, Small nail OMIM:263630
Orofaciodigital Syndrome I
Telecanthus, Hypertension, High palate, Ankyloglossia, Enamel hypoplasia, Downslanted palpebral f... OMIM:311200
Peripheral Primitive Neuroectodermal Tumor
Anorexia, Abdominal distention, Pancreatitis, Episodic abdominal pain, Elevated circulating alpha... ORPHA:370348
Spinocerebellar Ataxia-Dysmorphism Syndrome
Optic atrophy, Ptosis, Coarse hair, Epicanthus ORPHA:1185
American Trypanosomiasis
Myocarditis, Aganglionic megacolon, Diarrhea, Abdominal pain, Skin rash, Abnormal large intestine... ORPHA:3386
Camurati-Engelmann Disease, Type 2
Mitral valve prolapse OMIM:606631
Dravet Syndrome
Cyanotic episode ORPHA:33069
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 2
Constipation, Cachexia, Failure to thrive in infancy, Feeding difficulties OMIM:616801
Castleman Disease
Intestinal obstruction, Abdominal distention, Abnormality of the gastrointestinal tract, Increase... ORPHA:160
Lissencephaly Syndrome, Norman-Roberts Type
Respiratory distress ORPHA:89844
Mitochondrial Complex Iii Deficiency, Nuclear Type 10
Persistent fetal circulation, Bradycardia, Hypertrophic cardiomyopathy, Pericardial effusion, Alo... OMIM:618775
Loeys-Dietz Syndrome 5
Flexion contracture of toe, Cleft soft palate, Patent foramen ovale, Scapular winging, High palat... OMIM:615582
Waardenburg Syndrome, Type 1
Premature graying of hair, Telecanthus, Heterochromia iridis, Myelomeningocele, Spina bifida, Whi... OMIM:193500
Immunodeficiency 31C
Chronic oral candidiasis, Hepatomegaly, Protein-losing enteropathy, Chronic mucocutaneous candidi... OMIM:614162
Dpagt1-Cdg
Pulmonary hypoplasia ORPHA:86309
Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations
Multiple carpal ossification centers, Highly arched eyebrow, Dislocated radial head, Ventricular ... OMIM:143095
Penile Agenesis
Pulmonary hypoplasia, Bilateral lung agenesis ORPHA:49
Cardiospondylocarpofacial Syndrome
Mitral valve prolapse ORPHA:3238
Meckel Syndrome, Type 4
Microphthalmia, Bile duct proliferation, Cleft palate, Atrial septal defect, Ventricular septal d... OMIM:611134
Giant Axonal Neuropathy
Pili canaliculi, Woolly hair ORPHA:643
Felty Syndrome
Chronic otitis media, Arthritis, Synovitis, Sinusitis, Pericarditis, Episcleritis, Recurrent pneu... ORPHA:47612
Caroli Disease
Hepatomegaly, Cholangitis, Cholelithiasis, Conjunctival icterus, Esophageal varix, Portal hyperte... ORPHA:53035
Systemic-Onset Juvenile Idiopathic Arthritis
Elevated circulating C-reactive protein concentration, Arthritis, Skin rash, Abdominal pain, Peri... ORPHA:85414
Seckel Syndrome 9
Congenital diaphragmatic hernia, Recurrent respiratory infections, Pulmonary artery hypoplasia, A... OMIM:616777
Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency
Skin rash, Psoriasiform dermatitis, Cholecystitis, Allergic rhinitis, Cholangitis, Chronic gastri... ORPHA:183675
Microphthalmia With Limb Anomalies
Optic atrophy, Microphthalmia, True anophthalmia, Camptodactyly of 2nd-5th fingers, High palate, ... ORPHA:1106
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency
Respiratory insufficiency, Generalized abnormality of skin, Respiratory distress ORPHA:367
Riboflavin Transporter Deficiency
Cachexia, Dysphagia ORPHA:97229
Acrogeria
Lipoatrophy, Fine hair, Telangiectasia of the skin ORPHA:2500
Neuroendocrine Tumor Of Stomach
Hematemesis, Intermittent diarrhea, Anorexia, Bowel urgency, Melena, Bloody diarrhea, Lack of bow... ORPHA:100075
Tetrasomy 9P
Downslanted palpebral fissures, Jaundice, Pulmonary hypoplasia, Epicanthus ORPHA:3310
B4Galt1-Cdg
Elevated circulating creatine kinase concentration, Inflammatory abnormality of the skin, Diarrhe... ORPHA:79332
Adnp Syndrome
Bilateral ptosis, Respiratory distress, Slanting of the palpebral fissure, Long palpebral fissure... ORPHA:404448
Psoriasis 14, Pustular
Nail dystrophy, Cholangitis, Elevated circulating C-reactive protein concentration, Furrowed tong... OMIM:614204
Neurodegeneration, Childhood-Onset, With Progressive Microcephaly
Respiratory failure, Death in childhood OMIM:619847
Woolly Hair-Skin Fragility Syndrome
Woolly hair OMIM:620415
Immunoskeletal Dysplasia With Neurodevelopmental Abnormalities
Erythroderma, Anal atresia OMIM:617425
Lissencephaly 9 With Complex Brainstem Malformation
Ventricular septal defect, Dysphagia, Epicanthus OMIM:618325
Poikiloderma With Neutropenia
Nail dystrophy, Recurrent otitis media, Skin rash, Elevated circulating creatine kinase concentra... OMIM:604173
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 1
Bilateral ptosis, Cardiomyopathy, Elevated circulating creatine kinase concentration, Ptosis, Dys... OMIM:258450
Pearson Syndrome
Decreased response to growth hormone stimulation test, Steatorrhea, Hypoparathyroidism, Hepatomeg... ORPHA:699
Arthrogryposis, Renal Dysfunction, And Cholestasis 2
Hepatomegaly, Giant cell hepatitis, Arthrogryposis multiplex congenita, Death in infancy, Right v... OMIM:613404
Uremic Pruritus
Abnormal circulating cytokine concentration, Recurrent skin infections, Inflammatory abnormality ... ORPHA:94059
Short Rib-Polydactyly Syndrome, Verma-Naumoff Type
Respiratory insufficiency, Pulmonary hypoplasia, Epicanthus ORPHA:93271
Fibrodysplasia Ossificans Progressiva
Respiratory insufficiency, Respiratory failure OMIM:135100
Vacterl/Vater Association
Aplasia/Hypoplasia of the lungs ORPHA:887
Focal Segmental Glomerulosclerosis And Neurodevelopmental Syndrome
Fine hair, Glomerulonephritis, Synophrys OMIM:619428
Peripheral Motor Neuropathy-Dysautonomia Syndrome
Acrocyanosis ORPHA:2400
Adiposis Dolorosa
Diarrhea, Arthritis, Constipation, Obesity, Sparse pubic hair, Sparse axillary hair, Recurrent sk... ORPHA:36397
Classic Pantothenate Kinase-Associated Neurodegeneration
Aspiration pneumonia, Dysphagia, Weight loss ORPHA:216866
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0
Respiratory distress ORPHA:289916
Sitosterolemia 1
Chronic hemolytic anemia, Giant platelets, Anemia, Episodic hemolytic anemia, Reticulocytosis, Th... OMIM:210250
Trichorhinophalangeal Syndrome, Type I
Narrow palate, Abnormal blood phosphate concentration, Leukonychia, Thin nail, Slow-growing hair,... OMIM:190350
Pancreatoblastoma
Abdominal distention, Diarrhea, Abdominal pain, Vomiting, Weight loss ORPHA:677
Intellectual Developmental Disorder, X-Linked, Syndromic 35
Gastroesophageal reflux, Pulmonary artery stenosis, Epicanthus, Dorsal hirsutism, Atrial septal d... OMIM:300998
Aural Atresia, Multiple Congenital Anomalies, And Mental Retardation
Ventricular septal defect OMIM:209770
Rhizomelic Syndrome, Urbach Type
Pulmonic stenosis ORPHA:3098
Cartilage-Hair Hypoplasia
Aganglionic megacolon, Anal stenosis, Esophageal atresia, Sparse eyelashes, Constipation, Sparse ... OMIM:250250
Autoinflammation, Panniculitis, And Dermatosis Syndrome
Panniculitis, Elevated circulating C-reactive protein concentration, Diarrhea, Chronic diarrhea, ... OMIM:617099
Takenouchi-Kosaki Syndrome
Highly arched eyebrow, Synophrys, Pulmonic stenosis, Ptosis, Downslanted palpebral fissures, Spar... OMIM:616737
Acute Adrenal Insufficiency
Hyperkalemia, Anorexia, Hyperuricemia, Diarrhea, Abdominal pain, Increased circulating renin leve... ORPHA:95409
Ectodermal Dysplasia-Intellectual Disability-Central Nervous System Malformation Syndrome
Inguinal hernia, Aplastic/hypoplastic toenail, Abnormal dental enamel morphology, Abnormal eyelid... ORPHA:1812
Holt-Oram Syndrome
Paroxysmal atrial fibrillation, Atrioventricular canal defect, Anomalous pulmonary venous return,... ORPHA:392
Robinow Syndrome, Autosomal Dominant 3
Telecanthus, Patent foramen ovale, Pulmonary artery atresia, Camptodactyly, Long eyelashes, Tricu... OMIM:616894
Congenital Short Bowel Syndrome
Steatorrhea, Abnormal peristalsis, Congenital shortened small intestine, Intestinal malrotation, ... OMIM:615237
Congenital Disorder Of Glycosylation, Type Ib
Steatorrhea, Death in childhood, Protein-losing enteropathy, Hepatomegaly, Villous atrophy OMIM:602579
Congenital Disorder Of Glycosylation, Type Iia
Hirsutism, Long eyelashes, Protruding tongue, Downslanted palpebral fissures, Thick eyebrow, Spar... OMIM:212066
Infantile Krabbe Disease
Respiratory failure, Respiratory distress ORPHA:206436
Toe Syndactyly, Telecanthus, And Anogenital And Renal Malformations
Clinodactyly of the 5th finger, Telecanthus, Valvular pulmonary stenosis, Spina bifida occulta, P... OMIM:300707
Okamoto Syndrome
Astigmatism, Anal stenosis, Abnormal left ventricle morphology, Gastroesophageal reflux, Primum a... ORPHA:2729
Aicardi Syndrome
Optic atrophy, Microphthalmia, Intestinal polyposis, Gastroesophageal reflux, Retinal detachment,... ORPHA:50
Hereditary Hemorrhagic Telangiectasia
Tongue telangiectasia, Spontaneous hematomas, Gastrointestinal hemorrhage, Congestive heart failu... ORPHA:774
Deafness-Small Bowel Diverticulosis-Neuropathy Syndrome
Duodenal ulcer, Steatorrhea, Cachexia, Chronic diarrhea, Malabsorption ORPHA:3217
Distal Deletion 12Q
Annular pancreas, High, narrow palate, Late onset atopic dermatitis, Esophageal atresia, Telecant... ORPHA:96149
Fanconi Anemia, Complementation Group G
Microphthalmia OMIM:614082
Hereditary Elliptocytosis
Reticulocytosis, Poikilocytosis, Elliptocytosis, Splenomegaly, Stomatocytosis, Congenital hemolyt... ORPHA:288
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-
Respiratory distress ORPHA:79312
Wiskott-Aldrich Syndrome
Prolonged bleeding time, Thrombocytopenia, Abnormal platelet function, Abnormal platelet morphology ORPHA:906
Nephrotic Syndrome, Type 11
Minimal change glomerulonephritis, High palate, Cleft palate, Dilated cardiomyopathy, Ventricular... OMIM:616730
Gastrointestinal Ulceration, Recurrent, With Dysfunctional Platelets
Impaired platelet aggregation OMIM:618372
Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, And Calvarial Hyperostosis
Steatorrhea, Skin rash, Failure to thrive, Exocrine pancreatic insufficiency, Malnutrition, Aller... OMIM:612714
Liver Disease, Severe Congenital
Left atrial enlargement, Nail dystrophy, Splenomegaly, Umbilical hernia, Cardiomegaly, Chronic ga... OMIM:619991
Chédiak-Higashi Syndrome
Abnormal platelet function, Thrombocytopenia, Increased proportion of CD25+ mast cells, Abnormali... ORPHA:167
Brachydactyly, Type B1
Hypoplastic fingernail, Camptodactyly, Anonychia, Ventricular septal defect, Joint contracture of... OMIM:113000
Proximal Renal Tubular Acidosis
Band keratopathy, Coloboma, Hypovolemia, Enamel hypomineralization, Cataract, Subvalvular aortic ... ORPHA:47159
Hereditary Motor And Sensory Neuropathy, Type Iic
Respiratory failure, Intercostal muscle weakness OMIM:606071
Medullary Thyroid Carcinoma
Diarrhea, Dysphagia, Weight loss ORPHA:1332
Immunodeficiency 59 And Hypoglycemia
High anterior hairline, Recurrent aphthous stomatitis, Arteritis, Chronic diarrhea, Complete or n... OMIM:233600
Neurodevelopmental Disorder With Ataxia, Hypotonia, And Microcephaly
Dry hair, Muscular ventricular septal defect, Low anterior hairline, Epicanthus OMIM:618569
Ulnar-Mammary Syndrome
Aplasia of the pectoralis major muscle, Breast aplasia, Ectopic anus, Hypoplastic nipples, Anal a... ORPHA:3138
Cornelia De Lange Syndrome 6
Atrioventricular canal defect, Telecanthus, Gastroesophageal reflux, Highly arched eyebrow, Pulmo... OMIM:620568
Tropical Endomyocardial Fibrosis
Left atrial enlargement, P pulmonale, Abnormal ST segment, Splenomegaly, Prolonged QRS complex, C... ORPHA:75565
Craniotelencephalic Dysplasia
Optic nerve hypoplasia, Microphthalmia OMIM:218670
Amyotrophic Lateral Sclerosis
Respiratory failure, Dyspnea ORPHA:803
Acquired Purpura Fulminans
Prolonged prothrombin time, Macular purpura, Internal hemorrhage, Intracranial hemorrhage, Shock ORPHA:49566
Elsahy-Waters Syndrome
Anal stenosis, High palate, Megalocornea, Bilateral cryptorchidism, Synophrys, Increased cup-to-d... OMIM:211380
Amelo-Onycho-Hypohidrotic Syndrome
Onycholysis, Abnormal fingernail morphology, Fine hair, Hypoplastic toenails ORPHA:1028
Developmental Delay With Or Without Dysmorphic Facies And Autism
Nail dysplasia, Congenital diaphragmatic hernia, Small nail, Highly arched eyebrow, Patent forame... OMIM:618454
Rnf13-Related Severe Early-Onset Epileptic Encephalopathy
Respiratory distress ORPHA:544503
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 1, With Or Without Fractures
Broad distal phalanx of finger, Dislocated radial head, Short long bone, Large iliac wing, Short ... OMIM:271640
Fg Syndrome Type 1
Atrial septal defect, Small pituitary gland, Gastroesophageal reflux, High palate, Anal atresia, ... ORPHA:93932
Cerebrofaciothoracic Dysplasia
Low posterior hairline, Synophrys, Downslanted palpebral fissures, Cleft palate, Thick eyebrow, A... ORPHA:1394
Sarcoidosis, Susceptibility To, 1
Anorexia, Enlarged lacrimal glands, Abnormal salivary gland morphology, Increased circulating ant... OMIM:181000
Isolated Succinate-Coq Reductase Deficiency
Feeding difficulties in infancy, Weight loss ORPHA:3208
Fatal Familial Insomnia
Constipation, Dysphagia, Weight loss OMIM:600072
Angelman Syndrome Due To Paternal Uniparental Disomy Of Chromosome 15
Hypopigmentation of hair, Hypopigmentation of the skin, Protruding tongue, Iris hypopigmentation,... ORPHA:98795
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs
Prolonged neonatal jaundice, Respiratory distress ORPHA:226313
46,Xx Sex Reversal 5
Aplasia of the left hemidiaphragm, Secundum atrial septal defect, Ventricular septal defect, Hypo... OMIM:618901
Brucellosis
Pericarditis, Anterior uveitis, Anorexia, Myocarditis, Increased circulating IgG level, Abdominal... ORPHA:1304
Momo Syndrome
Hyperconvex nail, Bilateral microphthalmos, High palate, Downslanted palpebral fissures, Choriore... ORPHA:2563
Combined Oxidative Phosphorylation Deficiency 3
Death in childhood, Respiratory insufficiency, Dyspnea, Death in infancy, Respiratory failure OMIM:610505
Galloway-Mowat Syndrome 7
Minimal change glomerulonephritis, High palate, Eczematoid dermatitis, Cleft palate, Dilated card... OMIM:618348
Wilson Disease
Sunflower cataract, Hepatomegaly, Hypoparathyroidism, Kayser-Fleischer ring, Hepatocellular carci... OMIM:277900
Microphthalmia-Microtia-Fetal Akinesia Syndrome
Camptodactyly of finger, Microphthalmia, Duodenal stenosis ORPHA:2547
Immunodeficiency 87 And Autoimmunity
Atrial septal defect, Increased fecal calprotectin level, Atrioventricular canal defect, Villous ... OMIM:619573
Retinoblastoma
Hypopyon, Retinoblastoma, Retinal calcification, Subretinal pigment epithelium hemorrhage, Hetero... ORPHA:790
Autosomal Dominant Hyper-Ige Syndrome Due To Stat3 Deficiency
Chronic otitis media, Dystrophic fingernails, Abnormal hair morphology, Increased circulating IgE... ORPHA:2314
Familial Bicuspid Aortic Valve
Abnormal left ventricular outflow tract morphology, Aortic valve stenosis, Aortic valve calcifica... ORPHA:402075
Neurodevelopmental Disorder With Impaired Language And Ataxia And With Or Without Seizures
Apnea, Cyanosis OMIM:619580
Simple Cryoglobulinemia
Monoclonal elevation of IgG, Gastrointestinal hemorrhage, Abnormality of the gastrointestinal tra... ORPHA:91139
Paternal Uniparental Disomy Of Chromosome 6
Hepatomegaly, Hypoplastic fingernail, Ventricular septal defect, High palate, Shallow orbits, Umb... ORPHA:96191
Amastia, Bilateral, With Ureteral Triplication And Dysmorphism
Ptosis, Downslanted palpebral fissures, Epicanthus, Mitral valve prolapse OMIM:104350
Familial Aortic Dissection
Cardiomegaly, Abnormal left ventricular function, Aortic regurgitation ORPHA:229
Hatipoglu Immunodeficiency Syndrome
Premature graying of hair, Recurrent otitis media, Atopic dermatitis, Eczematoid dermatitis, Fail... OMIM:620331
Adult Syndrome
Breast hypoplasia, Toenail dysplasia, Abnormality of the nail, Hypoplastic nipples, Sparse scalp ... ORPHA:978
Whipple Disease
Anorexia, Myocarditis, Gastrointestinal hemorrhage, Diarrhea, Cachexia, Abdominal pain, Arthritis... ORPHA:3452
Lethal Congenital Contracture Syndrome 2
Dilated cardiomyopathy, Ventricular septal defect, Skeletal muscle atrophy, Arthrogryposis multip... OMIM:607598
Autosomal Recessive Cutis Laxa Type 2, Classic Type
Thick hair, High palate, Abnormal circulating apolipoprotein concentration, Failure to thrive, Fe... ORPHA:357074
Hypotaurinemic Retinal Degeneration And Cardiomyopathy
Dilated cardiomyopathy, Mitral valve prolapse OMIM:145350
Phelan-Mcdermid Syndrome
Palpebral edema, Toenail dysplasia, Gastroesophageal reflux, High palate, Long eyelashes, Ptosis,... OMIM:606232
Fanconi Anemia, Complementation Group B
Abnormal lung lobation, Esophageal atresia, Tracheoesophageal fistula, Death in infancy, Ventricu... OMIM:300514
Robinow Syndrome
Nail dysplasia, Pulmonary valve atresia, High anterior hairline, Tricuspid atresia, Small nail, A... ORPHA:97360
Hyperammonemia Due To N-Acetylglutamate Synthase Deficiency
Respiratory distress ORPHA:927
Lysosomal Acid Lipase Deficiency
Hypertriglyceridemia, Hyperkalemia, Decreased liver function, Steatorrhea, Abdominal distention, ... ORPHA:275761
Arthrogryposis, Renal Dysfunction, And Cholestasis 1
Giant cell hepatitis, Patent foramen ovale, Death in infancy, Arthrogryposis multiplex congenita,... OMIM:208085
Ectodermal Dysplasia 11A, Hypohidrotic/Hair/Tooth Type, Autosomal Dominant
Absent hair, Absent nipple, Sparse hair, Brittle hair OMIM:614940
Glycogen Storage Disease Iv
Bradycardia, Esophageal varix, Cardiomyopathy, Portal hypertension, Hepatosplenomegaly, Flexion c... OMIM:232500
Familial Glucocorticoid Deficiency
Hyperkalemia, Anorexia, Diarrhea, Episodic abdominal pain, Vomiting, Failure to thrive, Hyponatre... ORPHA:361
Agnathia-Holoprosencephaly-Situs Inversus Syndrome
Respiratory distress, Cyclopia, Aplasia/Hypoplasia of the eyebrow ORPHA:990
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Microdeletion
Respiratory failure, Narrow palpebral fissure, Epicanthus ORPHA:254528
Hyperferritinemia With Or Without Cataract
Anterior subcapsular cataract, Nuclear cataract, Pulverulent cataract, Cataract OMIM:600886
Leukocyte Adhesion Deficiency
Perianal abscess, Acute myeloid leukemia, Leukocytosis, Abnormality of neutrophil physiology, Cor... ORPHA:2968
Yunis-Varon Syndrome
Cardiomyopathy, Aplasia/Hypoplasia of the nails, Heart murmur, Patent foramen ovale, Pulmonary ar... OMIM:216340
Igg4-Related Kidney Disease
Decreased liver function, Sclerosing cholangitis, Pericarditis, Increased circulating IgG4 level,... ORPHA:449395
Interatrial Communication
Atrial septal defect, Congestive heart failure, Atrial flutter, Sinus venosus atrial septal defec... ORPHA:1478
Acquired Central Diabetes Insipidus
Weight loss ORPHA:95626
Rubinstein-Taybi Syndrome 1
Highly arched eyebrow, Low posterior hairline, Mitral valve prolapse, Nasolacrimal duct obstructi... OMIM:180849
Coach Syndrome 1
Hepatomegaly, Coloboma, Hypertension, Esophageal varix, Portal hypertension, Ptosis, Splenomegaly... OMIM:216360
Autoimmune Disease, Multisystem, Infantile-Onset, 1
Abnormal intestine morphology, Decreased circulating antibody level, Interstitial pneumonitis, Ec... OMIM:615952
Congenital Laryngeal Web
Respiratory distress ORPHA:2374
Heterotaxy, Visceral, 4, Autosomal
Atrioventricular canal defect, Transposition of the great arteries, Dextrocardia, Pulmonary arter... OMIM:613751
Ellis Van Creveld Syndrome
Nail dysplasia, Situs inversus totalis, Atrioventricular canal defect, Emphysema, Dextrocardia, A... ORPHA:289
Campomelic Dysplasia
Short palpebral fissure, Recurrent lower respiratory tract infections, Respiratory distress, Apne... OMIM:114290
Multiple Myeloma
Increased circulating IgG level, Functional abnormality of the gastrointestinal tract, Increased ... ORPHA:29073
Thakker-Donnai Syndrome
Congenital diaphragmatic hernia, Transposition of the great arteries, Rectovaginal fistula, Trach... ORPHA:1780
Menke-Hennekam Syndrome 1
Short palpebral fissure, Telecanthus, Inguinal hernia, Gastroesophageal reflux, High palate, Long... OMIM:618332
Diarrhea 10, Protein-Losing Enteropathy Type
Protein-losing enteropathy, Coloboma, Pleural effusion, Death in infancy, Pericardial effusion, H... OMIM:618183
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome
Hypoplasia of right ventricle, Transposition of the great arteries, Double outlet left ventricle,... ORPHA:2255
Ocular Cystinosis
Corneal crystals ORPHA:411641
Immunodeficiency 96
Recurrent otitis media, Eczematoid dermatitis, Conjunctival telangiectasia, Decreased circulating... OMIM:619774
Neurodevelopmental Disorder With Cerebral Atrophy And Variable Facial Dysmorphism
Broad eyebrow, Highly arched eyebrow, Hirsutism, High palate, Woolly hair, Low anterior hairline,... OMIM:619244
Wiskott-Aldrich Syndrome
Hematemesis, Decreased specific anti-polysaccharide antibody level, Recurrent otitis media, Melen... OMIM:301000
Familial Multiple Lipomatosis
Abnormal tricuspid valve morphology ORPHA:199276
Cortical Blindness-Intellectual Disability-Polydactyly Syndrome
Cachexia ORPHA:1389
Holoprosencephaly-Postaxial Polydactyly Syndrome
Cyclopia, Microphthalmia, Thyroid hypoplasia, Anal atresia, Omphalocele, Intestinal malrotation, ... ORPHA:2166
Den Hoed-De Boer-Voisin Syndrome
Recurrent lower respiratory tract infections, Gastroesophageal reflux, Death in adolescence, Down... OMIM:619229
Mpi-Cdg
Gastrointestinal hemorrhage, Hepatomegaly, Protein-losing enteropathy, Portal hypertension ORPHA:79319
Viss Syndrome
Ectropion, Pulmonary artery aneurysm, Coronary sinus enlargement, Intestinal malrotation, Malposi... OMIM:619472
Addison Disease
Hyperkalemia, Anorexia, Hyperuricemia, Diarrhea, Abdominal pain, Celiac disease, Increased circul... ORPHA:85138
Ehlers-Danlos Syndrome, Classic-Like, 2
Bilateral ptosis, High palate, Low posterior hairline, Ptosis, Osteoarthritis, Thin eyebrow, Mitr... OMIM:618000
Angelman Syndrome Due To A Point Mutation
Hypopigmentation of hair, Hypopigmentation of the skin, Protruding tongue, Iris hypopigmentation,... ORPHA:411511
Primary Dystonia, Dyt4 Type
Blepharospasm, Respiratory distress ORPHA:98805
Williams-Beuren Syndrome
Premature graying of hair, Small nail, Hypertension, Pulmonic stenosis, Mitral valve prolapse, Um... OMIM:194050
Ciliary Dyskinesia, Primary, 20
Situs inversus totalis, Absent outer dynein arms, Recurrent otitis media, Atelectasis, Dextrocard... OMIM:615067
Adrenocortical Carcinoma
Hypokalemia, Abdominal pain, Increased body weight, Weight loss, Hypertrichosis ORPHA:1501
Fructose-1,6-Bisphosphatase Deficiency
Respiratory distress, Dyspnea, Intermittent hyperventilation, Apneic episodes in infancy, Episodi... ORPHA:348
Microcephalic Osteodysplastic Primordial Dwarfism Type Ii
Atrial septal defect, Downslanted palpebral fissures, Aplasia/Hypoplasia of the eyebrow, Narrow p... ORPHA:2637
Neurodegeneration With Ataxia And Late-Onset Optic Atrophy
Cardiomegaly, Congestive heart failure, Cardiomyopathy, Limb muscle weakness OMIM:619259
Arteriovenous Malformations Of The Brain
Cerebral arteriovenous malformation OMIM:108010
Distal Duplication 5Q
Dextrocardia, Eczematoid dermatitis, Downslanted palpebral fissures, Chorioretinal coloboma, Epic... ORPHA:96097
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome
Respiratory insufficiency, Respiratory failure OMIM:613845
Autosomal Dominant Kenny-Caffey Syndrome
Bilateral microphthalmos, Congenital hypoparathyroidism, Retinal calcification, Decreased testicu... ORPHA:93325
Sarcoidosis
Erythema nodosum, Abnormal conjunctiva morphology, Enlarged lacrimal glands, Abnormal cardiac ven... ORPHA:797
Reynolds Syndrome
Keratoconjunctivitis sicca, Gastroesophageal reflux, Arthritis, Skin rash, Abnormal gastric mucos... ORPHA:779
Ichthyosis, Congenital, Autosomal Recessive 5
Erythroderma OMIM:604777
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion
High, narrow palate, Intestinal pseudo-obstruction, Branchial anomaly, Type 1 muscle fiber atroph... ORPHA:352665
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation
High, narrow palate, Intestinal pseudo-obstruction, Branchial anomaly, Type 1 muscle fiber atroph... ORPHA:453504
Rabson-Mendenhall Syndrome
Premature graying of hair, Thick hair, Hirsutism, Cardiomyopathy, Furrowed tongue, High palate, L... ORPHA:769
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome
Optic atrophy, Hepatomegaly, Panniculitis, Recurrent otitis media, Vasculitis, Skin rash, Hyperte... OMIM:615688
X-Linked Lissencephaly With Abnormal Genitalia
Ventricular septal defect, Aganglionic megacolon, Death in infancy ORPHA:452
Stt3B-Cdg
Respiratory distress ORPHA:370924
Von Hippel-Lindau Disease
Polycythemia ORPHA:892
Neurodevelopmental Disorder With Dysmorphic Features, Spasticity, And Brain Abnormalities
Pulmonic stenosis, Secundum atrial septal defect, Upslanted palpebral fissure, Highly arched eyebrow OMIM:615802
Hermansky-Pudlak Syndrome 6
Absent platelet dense granules, Impaired ADP-induced platelet aggregation, Impaired collagen-indu... OMIM:614075
Magel2-Related Prader-Willi-Like Syndrome
Hypopigmentation of hair, Recurrent respiratory infections, Gastroesophageal reflux, Hypopigmenta... ORPHA:398069
Gastrointestinal Stromal Tumor
Esophageal neoplasm, Intestinal obstruction, Gastrointestinal hemorrhage, Neoplasm of the stomach... ORPHA:44890
Cleft Palate-Congenital Heart Defect-Intellectual Disability Syndrome Due To 15Q14 Microdeletion
Atrial septal defect, Ventricular septal defect, Cleft palate, Acne ORPHA:261190
Hereditary Spherocytosis
Anemia, Spontaneous hemolytic crises, Increased mean corpuscular hemoglobin concentration, Sphero... ORPHA:822
Thymic Carcinoma
Weight loss ORPHA:99868
Craniofacial Dyssynostosis With Short Stature
Pyloric stenosis, Ventricular septal defect OMIM:218350
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency
Chronic oral candidiasis, Acute otitis media, Rectovaginal fistula, Chronic diarrhea, Skin rash, ... ORPHA:35078
Myoclonic-Astatic Epilepsy
Microphthalmia, Frontal balding ORPHA:1942
Wild Type Attr Amyloidosis
Intermittent diarrhea, Chronic diarrhea, Bowel incontinence, Weight loss, Gastrointestinal dysmot... ORPHA:330001
Necrotizing Enterocolitis
Apnea, Cyanosis ORPHA:391673
Mixed Connective Tissue Disease
Myocarditis, Gastrointestinal hemorrhage, Gastritis, Gastroesophageal reflux, Myositis, Xerostomi... ORPHA:809
Chromosome 15Q25 Deletion Syndrome
Congenital diaphragmatic hernia, Dextrocardia, Coronary artery fistula, Synophrys, Downslanted pa... OMIM:614294
Oculocutaneous Albinism Type 1B
Hypopigmentation of hair, Hypopigmentation of the skin, Iris hypopigmentation, Abnormality of ret... ORPHA:79434
Aredyld Syndrome
Cachexia, Sparse body hair, Aplasia/Hypoplasia of the eyebrow ORPHA:1133
Kabuki Syndrome 1
Bilateral ptosis, Anal stenosis, Recurrent otitis media, Anoperineal fistula, Highly arched eyebr... OMIM:147920
Oromandibular Dystonia
Blepharospasm, Respiratory distress ORPHA:93958
Galloway-Mowat Syndrome 3
Microphthalmia, Hypertension, High palate, Camptodactyly, Downslanted palpebral fissures, Epicant... OMIM:617729
Subcutaneous Panniculitis-Like T-Cell Lymphoma
Panniculitis, Weight loss ORPHA:86884
Osteosarcoma
Weight loss ORPHA:668
Leiomyomatosis, Diffuse, With Alport Syndrome
Cataract, Lenticonus, Anterior lenticonus, Dysphagia OMIM:308940
Ring Chromosome 12 Syndrome
Breast hypoplasia, High, narrow palate, Dystrophic toenail, Hirsutism, Secundum atrial septal def... ORPHA:1439
Huntington Disease-Like 1
Weight loss ORPHA:157941
Loeys-Dietz Syndrome 3
Ventricular hypertrophy, Pulmonic stenosis, Bifid uvula, Mitral valve prolapse, Umbilical hernia,... OMIM:613795
Myasthenia Gravis
Ptosis, Dyspnea, Acrocyanosis ORPHA:589
Fanconi Anemia, Complementation Group C
Microphthalmia, Cryptorchidism, Flexion contracture, Epicanthus, Ventricular septal defect OMIM:227645
Crimean-Congo Hemorrhagic Fever
Hematemesis, Spontaneous hematomas, Bradycardia, Hypertension, Ascites, Epistaxis, Diffuse alveol... ORPHA:99827
Microlissencephaly-Micromelia Syndrome
Palpebral edema, Respiratory distress ORPHA:50810
Fanconi Anemia, Complementation Group D2
Microphthalmia, Annular pancreas, Esophageal atresia, Tracheoesophageal fistula, Abnormal heart m... OMIM:227646
Heterotaxy, Visceral, 12, Autosomal
Situs inversus totalis, Dextrocardia, Patent foramen ovale, Double inlet right ventricle, Pulmoni... OMIM:619702
Congenital Heart Defects, Multiple Types, 8, With Or Without Heterotaxy
Partial anomalous pulmonary venous return, Dextrocardia, Ventricular septal defect, High palate, ... OMIM:619657
Ppoma
Anorexia, Intestinal obstruction, Gastrointestinal hemorrhage, Diarrhea, Neoplasm of the small in... ORPHA:97278
Hermansky-Pudlak Syndrome 2
Absent platelet dense granules, Impaired ADP-induced platelet aggregation, Thrombocytopenia, Enla... OMIM:608233
Monosomy 9P
Congenital diaphragmatic hernia, Microphthalmia, Thin nail, Highly arched eyebrow, High palate, L... ORPHA:261112
Neurodevelopmental Disorder With Intention Tremor, Pyramidal Signs, Dyspraxia, And Ocular Anomalies
Recurrent otitis media, High palate, Lower limb hypertonia, Dextrotransposition of the great arte... OMIM:619995
Classic Multiminicore Myopathy
Right ventricular hypertrophy, Failure to thrive, High palate, Mitral valve prolapse ORPHA:324604
Thyroid Lymphoma
Dyspnea, Respiratory distress ORPHA:97285
Multiple Mitochondrial Dysfunctions Syndrome 7
Respiratory failure requiring assisted ventilation, Apnea, Cyanosis OMIM:620423
Familial Mediterranean Fever
Elevated circulating C-reactive protein concentration, Diarrhea, Crohn's disease, Abdominal pain,... OMIM:249100
Vexas Syndrome
Nasal chondritis, Elevated circulating C-reactive protein concentration, Arteritis, Arthritis, In... OMIM:301054
Maternal Phenylketonuria
Bilateral ptosis, Esophageal atresia, High palate, Abnormal heart morphology, Tetralogy of Fallot... ORPHA:2209
Fragile X Syndrome
Macroorchidism, postpubertal, Mitral valve prolapse, Congenital macroorchidism OMIM:300624
Congenital Disorder Of Glycosylation, Type Ia
Steatorrhea, Death in childhood, Hepatomegaly, Cardiomyopathy, Death in infancy, Almond-shaped pa... OMIM:212065
Ectodermal Dysplasia 1, Hypohidrotic, X-Linked
Brittle hair, Absent eyelashes, Hypoplastic nipples, Absent nipple, Aplasia/Hypoplastia of the ec... OMIM:305100
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form
High, narrow palate, Hepatomegaly, Heart block, Cardiomyopathy, Abnormal myocardium morphology, A... ORPHA:228308
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency
Aganglionic megacolon, White hair, Agammaglobulinemia, Malabsorption, Fine hair ORPHA:935
Igg4-Related Retroperitoneal Fibrosis
Anorexia, Deep dermal perivascular inflammatory infiltrate, Elevated circulating C-reactive prote... ORPHA:49041
Adult Syndrome
Breast hypoplasia, Alopecia of scalp, Hypoplastic nipples, Sparse scalp hair, Absent nipple, Ecze... OMIM:103285
Carnitine Palmitoyltransferase I Deficiency
Cardiomegaly, Hepatomegaly, Arrhythmia OMIM:255120
Cohen-Gibson Syndrome
Thin nail, Small nail, Camptodactyly, Ptosis, Downslanted palpebral fissures, Flexion contracture... OMIM:617561
Nicolaides-Baraitser Syndrome
High, narrow palate, Inguinal hernia, Sparse scalp hair, Low posterior hairline, Long eyelashes, ... OMIM:601358
Combined Oxidative Phosphorylation Deficiency 41
Cardiomegaly OMIM:618838
Intellectual Developmental Disorder, Autosomal Dominant 45
Pulmonic stenosis OMIM:617600
Caroli Syndrome
Hematemesis, Hepatomegaly, Pancreatitis, Melena, Conjunctival icterus, Cholangitis, Esophageal va... ORPHA:480520
Mitochondrial Trifunctional Protein Deficiency 1
Respiratory insufficiency, Respiratory failure OMIM:609015
Cutis Gyrata-Acanthosis Nigricans-Craniosynostosis Syndrome
Ptosis, Downslanted palpebral fissures, Respiratory distress ORPHA:1555
Galloway-Mowat Syndrome 9
Hiatus hernia, Gastroesophageal reflux, Coarse hair, Almond-shaped palpebral fissure OMIM:619603
Ethylmalonic Encephalopathy
Petechiae, Acrocyanosis ORPHA:51188
Giant Cell Arteritis
Anorexia, Gastrointestinal infarctions, Glossitis, Abdominal pain, Arthritis, Hepatic failure, Pe... ORPHA:397
Cleft Larynx, Posterior
Cyanosis OMIM:215800
Chiari Malformation Type Ii
Cyanosis OMIM:207950
3-Methylcrotonyl-Coa Carboxylase 2 Deficiency
Seborrheic dermatitis, Alopecia OMIM:210210
Genitopatellar Syndrome
Downslanted palpebral fissures, Pulmonary hypoplasia OMIM:606170
Congenital Contractural Arachnodactyly
High palate, Tracheoesophageal fistula, Intestinal malrotation, Slender build, Mitral valve prola... ORPHA:115
Ehlers-Danlos Syndrome, Classic Type, 1
Bowel diverticulosis, Recurrent sinusitis, Osteoarthritis, Epicanthus, Mitral valve prolapse OMIM:130000
Subcorneal Pustular Dermatosis
Rheumatoid arthritis, Pustule, Increased circulating antibody level, Pruritus ORPHA:48377
Fanconi Anemia, Complementation Group F
Microphthalmia, Decreased response to growth hormone stimulation test, Pneumonia, Atrial septal d... OMIM:603467
Albinism, Oculocutaneous, Type Ia
Astigmatism, Hypopigmentation of hair, Ocular albinism, White hair, Albinism, Blue irides, Absent... OMIM:203100
Chromosome 16P13.3 Duplication Syndrome
Narrow palpebral fissure, Facial hypotonia, Hirsutism, Camptodactyly, Synophrys, Ptosis, Bifid uv... OMIM:613458
Letterer-Siwe Disease
Stomatitis, Seborrheic dermatitis, Hepatosplenomegaly OMIM:246400
Zollinger-Ellison Syndrome
Peptic ulcer, Duodenal ulcer, Gastrointestinal hemorrhage, Intestinal obstruction, Diarrhea, Epis... ORPHA:913
Hardikar Syndrome
Hematemesis, Bilateral cleft palate, Hypertension, Intestinal malrotation, Splenomegaly, Umbilica... OMIM:301068
Noonan Syndrome 1
High, narrow palate, High palate, Hypertrophic cardiomyopathy, Low posterior hairline, Pulmonic s... OMIM:163950
Klatskin Tumor
Abdominal pain, Weight loss, Cholangiocarcinoma ORPHA:99978
Aicardi-Goutieres Syndrome 9
Acute pancreatitis, Chilblains, Failure to thrive, Pericarditis, Feeding difficulties, Weight los... OMIM:619487
Pitt-Hopkins-Like Syndrome 2
Pulmonic stenosis OMIM:614325
Bronchial Neuroendocrine Tumor
Anorexia, Bowel urgency, Poor appetite, Weight loss, Pneumonia, Protracted diarrhea, Hepatic failure ORPHA:97287
Thoracic Dysplasia-Hydrocephalus Syndrome
Respiratory failure ORPHA:1861
Episodic Ataxia Type 1
Respiratory distress ORPHA:37612
Hypotonia-Speech Impairment-Severe Cognitive Delay Syndrome
Severe failure to thrive, Cachexia, Constipation, Feeding difficulties, Nasogastric tube feeding ... ORPHA:371364
Wiedemann-Rautenstrauch Syndrome
Lipoatrophy, Ectropion, Small nail, Dysphagia, Alopecia of scalp, Entropion, Absent eyelashes, Sp... OMIM:264090
Seckel Syndrome 2
Microphthalmia, Microglossia, Heart murmur OMIM:606744
Methimazole Embryofetopathy
Ventricular septal defect, Esophageal atresia, Tracheoesophageal fistula ORPHA:1923
Proteasome-Associated Autoinflammatory Syndrome 3
Panniculitis, Increased circulating antibody level, Myositis, Arthritis, Skin rash, Sinusitis, Fa... OMIM:617591
7Q11.23 Microduplication Syndrome
Congenital diaphragmatic hernia, Narrow palpebral fissure, Chronic otitis media, Astigmatism, Hig... ORPHA:96121
Autosomal Recessive Spastic Ataxia Of Charlevoix-Saguenay
Dysphagia, Mitral valve prolapse ORPHA:98
Lipodystrophy, Familial Partial, Type 7
Decreased adipose tissue around neck, Orthostatic hypotension, Loss of subcutaneous adipose tissu... OMIM:606721
Marburg Hemorrhagic Fever
Abnormality of the gastrointestinal tract, Pancreatitis, Bradycardia, Capillary leak, Arthritis, ... ORPHA:99826
Ramos-Arroyo Syndrome
Respiratory distress, Dacryocystitis, Narrow palpebral fissure, Upslanted palpebral fissure, Naso... ORPHA:1051
Neuroblastoma, Susceptibility To, 1
Diarrhea, Failure to thrive, Weight loss, Abdominal pain OMIM:256700
Hypoglossia With Situs Inversus
Respiratory distress OMIM:612776
Neurodevelopmental Disorder With Epilepsy And Hemochromatosis
Hepatomegaly, Seborrheic dermatitis, Aspiration pneumonia, Limb joint contracture, Splenomegaly, ... OMIM:301072
Simpson-Golabi-Behmel Syndrome, Type 1
Congenital diaphragmatic hernia, Enlarged kidney, Meckel diverticulum, Cardiomyopathy, Pulmonic s... OMIM:312870
Trichorhinophalangeal Syndrome, Type Iii
Sparse lateral eyebrow, Fine hair, Sparse hair OMIM:190351
8Q24.3 Microdeletion Syndrome
Abnormal lung lobation, Respiratory distress, Highly arched eyebrow, Long eyelashes, Retinal colo... ORPHA:508488
Short Stature, Optic Nerve Atrophy, And Pelger-Huet Anomaly
Optic atrophy, Fine hair, Thick eyebrow, Epicanthus OMIM:614800
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly
Ventricular septal defect, Splenomegaly, Hepatomegaly OMIM:615630
Phoar2-Enteropathy Syndrome
Seborrheic dermatitis, Acne OMIM:614441
Autosomal Recessive Malignant Osteopetrosis
Hepatomegaly, Optic nerve compression, Abnormality of hair texture, Pulmonary arterial hypertensi... ORPHA:667
Aicardi-Goutieres Syndrome 7
Hematemesis, Increased circulating antibody level, Diarrhea, Arthritis, Skin rash, Bloody diarrhe... OMIM:615846
Simpson-Golabi-Behmel Syndrome
Nail dysplasia, Congenital diaphragmatic hernia, Prolonged QT interval, Small nail, Cardiomyopath... ORPHA:373
Ileal Neuroendocrine Tumor
Intermittent diarrhea, Episodic vomiting, Episodic abdominal pain, Small intestine carcinoid, Nau... ORPHA:100078
Tetanus
Tachypnea, Respiratory distress ORPHA:3299
T-Cell Immunodeficiency With Thymic Aplasia
Pyoderma, Chronic diarrhea, Eczematoid dermatitis, Failure to thrive, Recurrent pneumonia, Aplasi... OMIM:242700
Parkinson Disease 4, Autosomal Dominant
Weight loss OMIM:605543
Glycogen Storage Disease Ib
Xanthelasma, Pancreatitis, Hepatocellular carcinoma, Inflammation of the large intestine, Gout, P... OMIM:232220
Glossopharyngeal Neuralgia
Oral-pharyngeal dysphagia, Feeding difficulties, Weight loss, Malnutrition, Odynophagia ORPHA:221098
Hypermethioninemia Due To Adenosine Kinase Deficiency
Pulmonic stenosis, Secundum atrial septal defect OMIM:614300
Deafness, Nerve Type, With Mesenteric Diverticula Of Small Bowel And Progressive Sensory Neuropathy
Tachycardia, Jejunoileal ulceration, Small bowel diverticula, Fat malabsorption OMIM:221400
Trichodermodysplasia-Dental Alterations Syndrome
Sparse or absent eyelashes, Brittle hair, Sparse scalp hair, Sparse lateral eyebrow, Aplasia/Hypo... ORPHA:3353
Cholesteryl Ester Storage Disease
Esophageal varix, Hepatomegaly, Splenomegaly, Pruritus ORPHA:75234
15Q11.2 Microdeletion Syndrome
Total anomalous pulmonary venous return, Abnormal heart morphology, Tetralogy of Fallot, Atrial s... ORPHA:261183
Oculopharyngodistal Myopathy 1
Bilateral ptosis, Respiratory distress, Ptosis, Respiratory insufficiency due to muscle weakness,... OMIM:164310
Parkes Weber Syndrome
Abnormal bleeding, Subarachnoid hemorrhage, Bounding pulse, Cerebral arteriovenous malformation, ... ORPHA:90307
Intellectual Developmental Disorder, X-Linked, Syndromic, Hackmann-Di Donato Type
Atrial septal defect, Ventricular septal defect, Mitral regurgitation, Camptodactyly OMIM:301039
Pseudohypoparathyroidism Type 1A
Abnormal platelet function ORPHA:79443
Classical-Like Ehlers-Danlos Syndrome Type 1
Gastrointestinal hemorrhage, Mitral valve prolapse ORPHA:230839
Juvenile Polyposis Syndrome
Gastrointestinal hemorrhage, Spontaneous, recurrent epistaxis, Transient ischemic attack, Pulmona... ORPHA:2929
Glucagonoma
Anorexia, Intestinal obstruction, Gastrointestinal hemorrhage, Steatorrhea, Stomatitis, Glossitis... ORPHA:97280
Centrifugal Lipodystrophy
Inflammatory abnormality of the skin, Lymphadenitis, Alopecia ORPHA:90156
Tropical Pancreatitis
Vomiting, Nausea, Weight loss, Malnutrition, Chronic calcifying pancreatitis ORPHA:103918
Oculocutaneous Albinism Type 1A
Hypopigmentation of hair, Hypopigmentation of the skin, Iris hypopigmentation, Albinism, Frecklin... ORPHA:79431
Peters-Plus Syndrome
Narrow palpebral fissure, Bilobate gallbladder, Peters anomaly, Anteriorly placed anus, Retinal c... OMIM:261540
Severe X-Linked Intellectual Disability, Gustavson Type
Contractures of the large joints, Ventricular septal defect, Recurrent upper respiratory tract in... ORPHA:3078
Beta-Ketothiolase Deficiency
Anorexia, Hyperuricemia, Diarrhea, Vomiting, Hyperammonemia, Weight loss ORPHA:134
Gallbladder Neuroendocrine Tumor
Anorexia, Abdominal distention, Episodic abdominal pain, Nausea, Biliary tract neoplasm, Weight l... ORPHA:100086
Hyper-Igd Syndrome
Chronic oral candidiasis, Diarrhea, Chronic diarrhea, Increased circulating IgA level, Skin rash,... OMIM:260920
Acrofacial Dysostosis, Catania Type
Inguinal hernia, Downslanted palpebral fissures, Abnormal hair pattern, Cryptorchidism, Coarse hair ORPHA:1786
Hemihyperplasia-Multiple Lipomatosis Syndrome
Lipoatrophy, Enlarged kidney, Seborrheic dermatitis, Telangiectasia of the skin, Ovarian serous c... ORPHA:276280
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion
Hypopigmentation of hair, Hypopigmentation of the skin, Protruding tongue, Iris hypopigmentation,... ORPHA:98794
Coccidioidomycosis
Pneumonia, Respiratory distress, Pleural empyema, Exudative pleural effusion ORPHA:228123
Heterotaxy, Visceral, 5, Autosomal
Atrioventricular canal defect, Double inlet left ventricle, Dextrocardia, Duodenal atresia, Atria... OMIM:270100
Neurodevelopmental Disorder With Hypotonia, Craniofacial Abnormalities, And Seizures
Aortic valve stenosis, Short palm, Broad thumb, Bicuspid aortic valve, Tapered finger OMIM:614501
Primary Aldosteronism, Seizures, And Neurologic Abnormalities
Patent foramen ovale, Hypertension, Ventricular septal defect, Pulmonary arterial hypertension, L... OMIM:615474
Pseudoxanthoma Elasticum
Abnormal endocardium morphology, Gastrointestinal hemorrhage, Skin rash, Restrictive cardiomyopat... ORPHA:758
Developmental And Epileptic Encephalopathy 85 With Or Without Midline Brain Defects
Congenital diaphragmatic hernia, Gastroesophageal reflux, Highly arched eyebrow, Hirsutism, Campt... OMIM:301044
Garg-Mishra Progeroid Syndrome
Microphthalmia, Sparse hair, Small nail OMIM:620601
Microcephaly, Developmental Delay, And Brittle Hair Syndrome
Brittle hair, Submucous cleft hard palate, Feeding difficulties in infancy, Sparse hair, Failure ... OMIM:618891
Diamond-Blackfan Anemia 7
Recurrent otitis media, Esophagitis, Secundum atrial septal defect, Tetralogy of Fallot, Cleft pa... OMIM:612562
Hydrops, Lactic Acidosis, And Sideroblastic Anemia
Hypertension, Pulmonary arterial hypertension, Overriding aorta, Ventricular septal defect, Secon... OMIM:617021
Beare-Stevenson Cutis Gyrata Syndrome
Ptosis, Downslanted palpebral fissures, Palmoplantar cutis laxa, Respiratory distress OMIM:123790
Specc1L-Related Hypertelorism Syndrome
Highly arched eyebrow, Ptosis, Downslanted palpebral fissures, Arrhythmia, Tetralogy of Fallot, T... ORPHA:1519
N-Acetylglutamate Synthase Deficiency
Tachypnea, Respiratory distress OMIM:237310
Cryptophthalmos, Unilateral Or Bilateral, Isolated
Cryptophthalmos, Microphthalmia, Ankyloblepharon OMIM:123570
Helsmoortel-Van Der Aa Syndrome
Bilateral ptosis, Chronic diarrhea, Abnormal heart morphology, Ectropion of lower eyelids, Dyspha... OMIM:615873
Spondyloepimetaphyseal Dysplasia, Guo-Campeau Type
High palate, Pulmonary arterial hypertension, Tricuspid regurgitation, Absent toenail, Velopharyn... OMIM:620663
Neurofibromatosis Type 1 Due To Nf1 Mutation Or Intragenic Deletion
Patent foramen ovale, High palate, Hypertrophic cardiomyopathy, Pulmonic stenosis, Sinusitis, Abn... ORPHA:363700
Mitochondrial Trifunctional Protein Deficiency
Respiratory insufficiency, Respiratory failure ORPHA:746
Complement Component 5 Deficiency
Generalized seborrheic dermatitis OMIM:609536
Singleton-Merten Syndrome 1
Congestive heart failure, High anterior hairline, Pleural effusion, Mitral valve calcification, A... OMIM:182250
16P13.11 Microdeletion Syndrome
Cyclopia, Gastroesophageal reflux, Camptodactyly of finger, Downslanted palpebral fissures, Cleft... ORPHA:261236
Intellectual Developmental Disorder, X-Linked, Syndromic, Lujan-Fryns Type
High palate, Ptosis, Flexion contracture, Atrial septal defect, Ventricular septal defect OMIM:309520
Cardiogenic Shock
Orthopnea, Hypoxemia, Cyanosis, Dyspnea ORPHA:97292
X-Linked Cerebral-Cerebellar-Coloboma Syndrome
Meckel diverticulum, Chorioretinal coloboma, Dysphagia ORPHA:163961
Somatostatinoma
Anorexia, Intestinal obstruction, Gastrointestinal hemorrhage, Steatorrhea, Diarrhea, Neoplasm of... ORPHA:97283
Weaver Syndrome
Joint contracture of the hand, Thin nail, Inguinal hernia, Camptodactyly, Umbilical hernia, Deep-... OMIM:277590
Grfoma
Anorexia, Intestinal obstruction, Gastrointestinal hemorrhage, Diarrhea, Neoplasm of the small in... ORPHA:97261
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome
Hypertension, Ventricular hypertrophy, Pulmonary arterial hypertension, Epistaxis, Intracranial h... ORPHA:369929
Methemoglobinemia And Ambiguous Genitalia
Cyanosis OMIM:250790
Osteopetrosis, Autosomal Recessive 8
Optic atrophy, Splenomegaly, Hepatomegaly, Unilateral microphthalmos OMIM:615085
Neuroblastoma
Abdominal distention, Chronic diarrhea, Increased circulating ferritin concentration, Weight loss ORPHA:635
Cardiac-Valvular Ehlers-Danlos Syndrome
Abnormal heart valve morphology, High palate, Ptosis, Thick eyebrow, Mitral valve prolapse, Left ... ORPHA:230851
Pelizaeus-Merzbacher Disease
Cachexia, Failure to thrive in infancy, Bowel incontinence ORPHA:702
Erythroderma Desquamativum
Seborrheic dermatitis ORPHA:314
Intellectual Disability-Cataracts-Calcified Pinnae-Myopathy Syndrome
Bilateral cryptorchidism, Synophrys, Downslanted palpebral fissures, Hip contracture, Flexion con... ORPHA:3042
Beckwith-Wiedemann Syndrome
Polycythemia, Splenomegaly ORPHA:116
Auriculocondylar Syndrome
Ptosis, Respiratory distress ORPHA:137888
Arterial Calcification, Generalized, Of Infancy, 1
Congestive heart failure, Hypertension, Cardiomegaly, Dilated cardiomyopathy, Myocardial infarction OMIM:208000
Microphthalmia-Brain Atrophy Syndrome
Bilateral microphthalmos ORPHA:77299
Aicardi-Goutieres Syndrome 1
Purpura, Petechiae, Prolonged neonatal jaundice, Acrocyanosis, Erythema OMIM:225750
Cerebroretinal Microangiopathy With Calcifications And Cysts 2
Premature graying of hair, Gastrointestinal hemorrhage, Retinal telangiectasia, Esophageal varix,... OMIM:617341
Mandibuloacral Dysplasia With Type B Lipodystrophy
Brittle hair, High palate, Hyperlipidemia, Sparse hair, Alopecia OMIM:608612
Familial Hyperthyroidism Due To Mutations In Tsh Receptor
Diarrhea, Small for gestational age, Weight loss ORPHA:424
Waardenburg Syndrome, Type 4C
Hypopigmented skin patches, Premature graying of hair, Aganglionic megacolon, Lacrimal gland hypo... OMIM:613266
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay
Cardiomyopathy, Rod-cone dystrophy, Splenomegaly, Brittle hair OMIM:616084
Combined Oxidative Phosphorylation Deficiency 37
Respiratory insufficiency, Respiratory failure OMIM:618329
Pelizaeus-Merzbacher Disease, Connatal Form
Respiratory failure ORPHA:280210
Early-Onset Progressive Leukoencephalopathy-Central Nervous System Calcification-Deafness-Visual Impairment Syndrome
Respiratory failure ORPHA:3240
Mosaic Monosomy X
Low posterior hairline, Bicuspid aortic valve, Thyroiditis, Neck pterygia, Inflammation of the la... ORPHA:99228
Monosomy X
Low posterior hairline, Bicuspid aortic valve, Thyroiditis, Neck pterygia, Inflammation of the la... ORPHA:99226
Turner Syndrome
Low posterior hairline, Bicuspid aortic valve, Thyroiditis, Neck pterygia, Inflammation of the la... ORPHA:881
Turner Syndrome Due To Structural X Chromosome Anomalies
Low posterior hairline, Bicuspid aortic valve, Thyroiditis, Neck pterygia, Inflammation of the la... ORPHA:99413
Marden-Walker Syndrome
Situs inversus totalis, Abnormal anatomic location of the heart, Muscular dystrophy, Short palpeb... ORPHA:2461
Orofaciodigital Syndrome Type 1
Chronic otitis media, Telecanthus, Brittle hair, Abnormal dental enamel morphology, Hypertension,... ORPHA:2750
Sickle Cell Disease
Hepatomegaly, Cholelithiasis, Hypertension, Retinopathy, Splenomegaly, Cardiomegaly OMIM:603903
Dyskeratosis Congenita, Autosomal Dominant 3
Nail dysplasia, Premature graying of hair, Nail dystrophy, Gastrointestinal hemorrhage, Oral leuk... OMIM:613990
Immunodeficiency 113 With Autoimmunity And Autoinflammation
Elevated circulating C-reactive protein concentration, Minimal change glomerulonephritis, Myositi... OMIM:620565
Inhalational Anthrax
Dyspnea, Respiratory distress ORPHA:247257
Granulomatosis With Polyangiitis
Chronic otitis media, Intestinal obstruction, Gastrointestinal hemorrhage, Prostatitis, Pancreati... ORPHA:900
Intellectual Developmental Disorder, Autosomal Recessive 71
Ventricular septal defect OMIM:618504
Fanconi Anemia, Complementation Group J
Microphthalmia OMIM:609054
C Syndrome
Hepatomegaly, High palate, Epicanthus, Ventricular septal defect, Upslanted palpebral fissure OMIM:211750
Malakoplakia
Neoplasm of the rectum, Diarrhea, Abdominal pain, Skin rash, Inflammatory abnormality of the skin... ORPHA:556
Osteopetrosis, Autosomal Recessive 5
Stillbirth, Respiratory failure OMIM:259720
Developmental And Epileptic Encephalopathy 68
Respiratory distress OMIM:618201
Neuromuscular Oculoauditory Syndrome
Epicanthus, Respiratory distress OMIM:618733
Biotinidase Deficiency
Respiratory distress, Hyperventilation, Apnea, Conjunctivitis ORPHA:79241
Poliomyelitis
Respiratory failure requiring assisted ventilation, Respiratory failure ORPHA:2912
Seborrhea-Like Dermatitis With Psoriasiform Elements
Seborrheic dermatitis OMIM:610227
Necrobiosis Lipoidica
Inflammatory abnormality of the skin ORPHA:542592
Pallister-Killian Syndrome
Stillbirth, Telecanthus, Sparse eyelashes, Ptosis, Sparse eyebrow, Pulmonary hypoplasia, Epicanth... OMIM:601803
8P11.2 Deletion Syndrome
Epicanthus, Mitral valve prolapse, Atrial septal defect, Upslanted palpebral fissure, Blepharophi... ORPHA:251066
Camptodactyly-Arthropathy-Coxa-Vara-Pericarditis Syndrome
Knee osteoarthritis, Pericarditis, Osteoarthritis of the elbow, Mitral valve prolapse ORPHA:2848
Infantile Nephropathic Cystinosis
Abnormal cornea morphology, Corneal crystals, Pigmentary retinopathy ORPHA:411629
Mitochondrial Complex I Deficiency, Nuclear Type 37
Respiratory distress OMIM:619272
Omodysplasia 1
Narrow palpebral fissure, Popliteal pterygium, Axillary pterygium, Pulmonary artery stenosis, Epi... OMIM:258315
Cerebrofacioarticular Syndrome
Pulmonic stenosis, Abnormal heart morphology, Blepharophimosis, Epicanthus ORPHA:314679
Pallister-Hall Syndrome
Nail dysplasia, Microphthalmia, Decreased response to growth hormone stimulation test, Panhypopit... OMIM:146510
Hyperimmunoglobulinemia D With Periodic Fever
Urticaria, Purpura, Erythema, Acrocyanosis ORPHA:343
Microphthalmia, Syndromic 11
Microphthalmia, Cleft palate, Agenesis of pineal gland OMIM:614402
Hermansky-Pudlak Syndrome 8
Impaired platelet aggregation OMIM:614077
Chronic Thromboembolic Pulmonary Hypertension
Elevated circulating C-reactive protein concentration, Right atrial enlargement, Inflammation of ... ORPHA:70591
Mitochondrial Complex Iv Deficiency, Nuclear Type 5
Pulmonary edema, Aortic valve atresia, Highly arched eyebrow, Hirsutism, Hypertension, Hypertroph... OMIM:220111
Diamond-Blackfan Anemia
Abnormality of the thenar eminence, Developmental glaucoma, Cleft soft palate, High palate, Adeno... ORPHA:124
Eisenmenger Syndrome
Exertional dyspnea, Respiratory distress, Aortopulmonary window, Hypoxemia, Cyanosis ORPHA:97214
Primary Hepatic Neuroendocrine Carcinoma
Anorexia, Abdominal distention, Diarrhea, Episodic abdominal pain, Nausea, Weight loss, Neoplasm ... ORPHA:100085
Neurodevelopmental Disorder With Language Delay And Seizures
Ventricular septal defect OMIM:619908
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked
Perimembranous ventricular septal defect, Gastroesophageal reflux, Protruding tongue, Epicanthus,... OMIM:301040
Joubert Syndrome 2
Microphthalmia, Retinal dystrophy, High palate, Chorioretinal coloboma, Optic disc coloboma OMIM:608091
Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome
Cyanosis ORPHA:488627
Chromosome 14Q11-Q22 Deletion Syndrome
Short palpebral fissure, Gastroesophageal reflux, Patent foramen ovale, High palate, Epicanthus, ... OMIM:613457
Leopard Syndrome 1
Hypertrophic cardiomyopathy, Pulmonic stenosis, Ptosis, Mitral valve prolapse, Epicanthus, Subval... OMIM:151100
Thrombotic Thrombocytopenic Purpura, Hereditary
Microangiopathic hemolytic anemia, Thrombocytopenia, Schistocytosis, Reticulocytosis OMIM:274150
Acrofacial Dysostosis, Cincinnati Type
Pulmonary artery aneurysm, Cleft anterior mitral valve leaflet, Upper eyelid coloboma, Ablepharon... OMIM:616462
Thyrotoxic Periodic Paralysis
Hyperkalemia, Transient hypophosphatemia, Episodic hypokalemia, Constipation, Obesity, Hypomagnes... ORPHA:79102
Catel-Manzke Syndrome
Dextrocardia, Glossoptosis, High palate, Camptodactyly, Bifid uvula, Cleft palate, Thin eyebrow, ... OMIM:616145
Osteopathia Striata With Cranial Sclerosis
Anal stenosis, Flexion contracture of toe, Spina bifida occulta, Gastroesophageal reflux, Facial ... OMIM:300373
Acute Monoblastic/Monocytic Leukemia
Anorexia, Weight loss ORPHA:514
Sporadic Pheochromocytoma/Secreting Paraganglioma
Nausea, Hypercalcemia, Episodic abdominal pain, Weight loss ORPHA:276621
Kniest Dysplasia
Respiratory distress OMIM:156550
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency
Bilateral microphthalmos, Ankle flexion contracture, Abnormality of the orbital region, Multiple ... ORPHA:468631
Congenital Factor Xiii Deficiency
Inflammation of the large intestine, Hepatic failure ORPHA:331
3-Hydroxy-3-Methylglutaric Aciduria
Anorexia, Episodic vomiting, Hyperuricemia, Diarrhea, Acute pancreatitis, Reye syndrome-like epis... ORPHA:20
Cog8-Cdg
Protein-losing enteropathy, Skeletal muscle atrophy ORPHA:95428
Autosomal Dominant Optic Atrophy And Cataract
Optic atrophy, Posterior subcapsular cataract, Posterior cortical cataract, Anterior subcapsular ... ORPHA:67036
Junctional Epidermolysis Bullosa With Pyloric Atresia
Ectropion, Nail dystrophy, Abdominal distention, Pterygium, Congenital pyloric atresia, Nausea an... ORPHA:79403
Brachytelephalangic Chondrodysplasia Punctata
Recurrent respiratory infections, Gastroesophageal reflux, Pulmonary artery stenosis, Cataract, A... ORPHA:79345
Apert Syndrome
Narrow palate, Chronic otitis media, Esophageal atresia, Ectopic anus, Shallow orbits, Pyloric st... OMIM:101200
Glycogen Storage Disease Ic
Chronic pancreatitis, Hyperuricemia, Stomatitis, Hepatocellular carcinoma, Hyperlipidemia, Inflam... OMIM:232240
Fraser Syndrome 2
Microphthalmia, Hypoplasia of the thymus, Anal atresia, Intestinal malrotation, Cryptophthalmos, ... OMIM:617666
Cerebroretinal Microangiopathy With Calcifications And Cysts 1
Optic atrophy, Premature graying of hair, Nail dystrophy, Nail dysplasia, Retinal telangiectasia,... OMIM:612199
Arthrogryposis, Distal, Type 12
High palate, Ptosis, Mitral valve prolapse, Cryptorchidism, Hydrocele testis OMIM:620545
Autosomal Recessive Faciodigitogenital Syndrome
Dry hair, Hypopigmentation of hair, Telecanthus, High palate, Long palpebral fissure, Upslanted p... ORPHA:1974
Zinc Deficiency, Transient Neonatal
Eczematoid dermatitis, Alopecia OMIM:608118
Cystic Echinococcosis
Increased circulating antibody level, Abdominal symptom, Hyperbilirubinemia, Weight loss, Membran... ORPHA:400
Meckel Syndrome, Type 2
Microphthalmia, Omphalocele, Intestinal malrotation, Bile duct proliferation, Cleft palate OMIM:603194
Alternating Hemiplegia Of Childhood
Flushing, Apnea, Thin eyebrow, Respiratory distress ORPHA:2131
Thymic Neuroendocrine Tumor
Hypercalcemia, Weight loss ORPHA:97289
Prader-Willi Syndrome
Hypopigmentation of hair, Periodontitis, Hypertension, Hypopigmentation of the skin, Almond-shape... ORPHA:739
Silver-Russell Syndrome
Gastroesophageal reflux, Cachexia, Constipation, Obesity, Feeding difficulties, Failure to thrive... ORPHA:813
Stankiewicz-Isidor Syndrome
Truncus arteriosus, Ventricular septal defect OMIM:617516
Developmental Delay With Or Without Intellectual Impairment Or Behavioral Abnormalities
High, narrow palate, Recurrent otitis media, Anterior polar cataract, Hematochezia, Recurrent res... OMIM:619575
Sim1-Related Prader-Willi-Like Syndrome
Hypopigmentation of hair, Hypopigmentation of the skin, Almond-shaped palpebral fissure, Recurren... ORPHA:398079
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency
Respiratory distress OMIM:251000
Acute Promyelocytic Leukemia
Anorexia, Abdominal pain, Weight loss, Stomatitis ORPHA:520
X-Linked Intellectual Disability, Cabezas Type
Cachexia, High palate, Synophrys, Obesity, Abnormal hair pattern ORPHA:85293
Multicentric Carpo-Tarsal Osteolysis With Or Without Nephropathy
Cachexia ORPHA:2774
Combined Oxidative Phosphorylation Deficiency 19
Respiratory distress OMIM:615595
Familial Mediterranean Fever
Intestinal obstruction, Gastrointestinal infarctions, Pancreatitis, Diarrhea, Abdominal pain, Ski... ORPHA:342
Alström Syndrome
Hypertension, Recurrent sinusitis, Splenomegaly, Retinal pigment epithelial atrophy, Fine hair, A... ORPHA:64
Spinal muscular atrophy, type I, with congenital bone fractures
Respiratory distress OMIM:271225
Shprintzen-Goldberg Syndrome
High, narrow palate, Abnormal aortic valve morphology, Telecanthus, Gastroesophageal reflux, Fail... ORPHA:2462
Toriello-Carey Syndrome
Short palpebral fissure, Telecanthus, Cardiomyopathy, Pulmonic stenosis, Sparse eyebrow, Tetralog... ORPHA:3338
Rheumatoid Factor-Negative Polyarticular Juvenile Idiopathic Arthritis
Hip osteoarthritis, Knee osteoarthritis, Arthritis, Synovitis, Enthesitis, Weight loss, Iridocycl... ORPHA:85408
Rett Syndrome
Constipation, Cachexia, Gastroesophageal reflux OMIM:312750
Fanconi Anemia, Complementation Group E
Microphthalmia, Abnormal heart morphology, Cryptorchidism OMIM:600901
Developmental Delay, Impaired Speech, And Behavioral Abnormalities
Palpebral edema, Hypopigmentation of the skin, Heart murmur, Bicuspid aortic valve, Short uvula, ... OMIM:619475
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1
Microangiopathic hemolytic anemia, Thrombocytopenia, Schistocytosis, Reticulocytosis OMIM:235400
Wolf-Hirschhorn Syndrome
Gastroesophageal reflux, Hyperconvex fingernails, Highly arched eyebrow, Low posterior hairline, ... OMIM:194190
Occipital Horn Syndrome
Coarse hair, Scarring, High, narrow palate, Abnormal esophagus physiology, Inguinal hernia, Thick... ORPHA:198
Diamond-Blackfan Anemia 1
Tricuspid stenosis, Downslanted palpebral fissures, Epicanthus, Atrial septal defect, Ventricular... OMIM:105650
Seizures, Scoliosis, And Macrocephaly/Microcephaly Syndrome
Nail dysplasia, Gastroesophageal reflux, Intestinal malrotation, Volvulus, Cerebral hemorrhage, S... OMIM:616682
Hellp Syndrome
Prolonged prothrombin time, Pulmonary edema, Pleural effusion, Hypotension, Internal hemorrhage, ... ORPHA:244242
Fanconi Anemia, Complementation Group L
Microphthalmia, Esophageal atresia, Tracheoesophageal fistula, Anal atresia, Cleft palate, Upslan... OMIM:614083
Johanson-Blizzard Syndrome
Conjunctival icterus, Splenomegaly, Abnormality of the nail, Portal hypertension, Cafe-au-lait sp... OMIM:243800
Fanconi Anemia, Complementation Group A
Microphthalmia, Abnormal heart morphology, Cryptorchidism OMIM:227650
Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15
Hypopigmentation of hair, Hypopigmentation of the skin, Almond-shaped palpebral fissure, Iris hyp... ORPHA:98754
Cerebrocostomandibular Syndrome
Hydranencephaly, Meningocele, Short hard palate, Glossoptosis, Myelomeningocele, Spina bifida, De... ORPHA:1393
Heterotaxy, Visceral, 8, Autosomal
Atrial situs ambiguous, Congenitally corrected transposition of the great arteries with ventricul... OMIM:617205
Shprintzen-Goldberg Craniosynostosis Syndrome
Narrow palate, Telecanthus, Gastroesophageal reflux, High palate, Shallow orbits, Ptosis, Downsla... OMIM:182212
Perry Syndrome
Weight loss OMIM:168605
Hoyeraal-Hreidarsson Syndrome
Premature graying of hair, Nail dystrophy, Sparse scalp hair, Oral leukoplakia, Generalized hyper... ORPHA:3322
Portal Hypertension, Noncirrhotic, 1
Esophageal varix, Hepatomegaly, Splenomegaly, Portal hypertension OMIM:617068
Hereditary Angioedema Type 1
Urticaria, Dyspnea, Dermatographic urticaria, Respiratory distress ORPHA:100050
17Q24.2 Microdeletion Syndrome
Synophrys, Pulmonic stenosis, Ptosis, Downslanted palpebral fissures, Thick eyebrow ORPHA:529962
Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion
Hypopigmentation of hair, Hypopigmentation of the skin, Almond-shaped palpebral fissure, Iris hyp... ORPHA:98793
Aregenerative Anemia
Abnormal circulating interleukin concentration ORPHA:101096
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome
Bilateral ptosis, Downslanted palpebral fissures, Cleft palate, Aplasia/Hypoplasia of the nails, ... ORPHA:163979
Intellectual Developmental Disorder With Hypotonia And Behavioral Abnormalities
Patent foramen ovale, Rectoperineal fistula, Ptosis, Tetralogy of Fallot, Ventricular septal defe... OMIM:618748
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2
Hypopigmentation of hair, Hypopigmentation of the skin, Almond-shaped palpebral fissure, Iris hyp... ORPHA:177904
Portal Hypertension, Noncirrhotic, 2
Hepatomegaly, Esophageal varix, Hepatocellular carcinoma, Portal hypertension, Epistaxis, Splenom... OMIM:619463
Cholestasis, Progressive Familial Intrahepatic, 2
Death in childhood, Hepatomegaly, Hepatocellular carcinoma, Splenomegaly, Fat malabsorption OMIM:601847
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 1
Hypopigmentation of hair, Hypopigmentation of the skin, Almond-shaped palpebral fissure, Iris hyp... ORPHA:177901
Pitt-Hopkins Syndrome
Abnormal pattern of respiration, Acrocyanosis, Upslanted palpebral fissure, Hyperventilation ORPHA:2896
Ear-Patella-Short Stature Syndrome
Respiratory failure, Dyspnea, Respiratory distress ORPHA:2554
Hypoparathyroidism-Retardation-Dysmorphism Syndrome
Microphthalmia, Decreased response to growth hormone stimulation test, Congenital hypoparathyroid... OMIM:241410
Vipoma
Anorexia, Hypokalemia, Episodic abdominal pain, Abnormal gastrointestinal motility, Poor appetite... ORPHA:97282
Hand-Foot-Genital Syndrome
Hypoplastic fifth toenail, Miscarriage, Ventricular septal defect ORPHA:2438
Pyomyositis
Myositis, Recurrent cutaneous abscess formation, Weight loss ORPHA:764
Polymicrogyria With Or Without Vascular-Type Ehlers-Danlos Syndrome
Pulmonic stenosis, Upslanted palpebral fissure OMIM:618343
Trichorhinophalangeal Syndrome, Type Ii
Right ventricular hypertrophy, Partial anomalous pulmonary venous return, Bicuspid aortic valve, ... OMIM:150230
Microcephalic Osteodysplastic Primordial Dwarfism, Type I
Stillbirth, Muscular ventricular septal defect, Death in childhood, Gastroesophageal reflux, Shou... OMIM:210710
Lynch Syndrome
Neoplasm of the stomach, Gastrointestinal hemorrhage, Intestinal polyposis, Neoplasm of the rectu... ORPHA:144
Familial Gestational Hyperthyroidism
Diarrhea, Weight loss ORPHA:99819
Doors Syndrome
Bilateral ptosis, Epicanthus, Aspiration pneumonia, Respiratory distress ORPHA:79500
Malt Lymphoma
Abdominal pain, Posterior uveitis, Constipation, Weight loss, Nausea and vomiting ORPHA:52417
Menkes Disease
Gastrointestinal hemorrhage, Hypopigmentation of hair, Woolly hair, Umbilical hernia, Sparse hair... ORPHA:565
Primary Myelofibrosis
Anorexia, Cachexia ORPHA:824
X-Linked Intellectual Disability-Cerebellar Hypoplasia-Spondylo-Epiphyseal Dysplasia Syndrome
Narrow palpebral fissure, Gastroesophageal reflux, Lower-limb joint contracture, Hirsutism, Pulmo... ORPHA:459070
Thauvin-Robinet-Faivre Syndrome
Coloboma, Retinal coloboma, Long palpebral fissure, Downslanted palpebral fissures, Epicanthus, M... OMIM:617107
8P23.1 Microdeletion Syndrome
Obesity, High palate, Weight loss ORPHA:251071
Mckusick-Kaufman Syndrome
Aganglionic megacolon, Ectopic anus, High palate, Anal atresia, Cleft palate, Tetralogy of Fallot... ORPHA:2473
Acrofacial Dysostosis 1, Nager Type
Congenital diaphragmatic hernia, Aganglionic megacolon, Downslanted palpebral fissures, Cleft pal... OMIM:154400
Alveolar Echinococcosis
Decreased liver function, Cholangitis, Increased circulating antibody level, Abdominal pain, Vomi... ORPHA:284
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia
Microphthalmia OMIM:300863
Blepharophimosis-Intellectual Disability Syndrome, Sbbys Type
Short palpebral fissure, Atrioventricular canal defect, Recurrent respiratory infections, Neoplas... ORPHA:3047
Primary Triglyceride Deposit Cardiomyovasculopathy
Hepatomegaly, Pancreatitis, Angina pectoris, Low-output congestive heart failure, Cardiomyopathy,... ORPHA:565612
Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii
Loss of eyelashes, Dyspnea, Downslanted palpebral fissures, Thin eyebrow, Respiratory failure ORPHA:2636
Bile Acid Synthesis Defect, Congenital, 1
Steatorrhea, Hepatomegaly, Giant cell hepatitis, Splenomegaly, Acholic stools, Fat malabsorption OMIM:607765
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13
Optic nerve dysplasia, Opacification of the corneal stroma, Retinal dysplasia, Decreased testicul... OMIM:615287
Ectodermal Dysplasia-Skin Fragility Syndrome
Nail dystrophy, Cheilitis, Anoperineal fistula, Abnormal tongue morphology, Chronic diarrhea, Fai... ORPHA:158668
Craniofacioskeletal Syndrome
Short palpebral fissure, Downslanted palpebral fissures, Cleft palate, Atrial septal defect, Vent... OMIM:300712
Kasabach-Merritt Phenomenon
Anemia, Reticulocytosis, Leukopenia, Thrombocytopenia, Microangiopathic hemolytic anemia, Neutrop... ORPHA:2330
Juvenile Amyotrophic Lateral Sclerosis
Cachexia, Dysphagia, Gastrostomy tube feeding in infancy ORPHA:300605
Autosomal Dominant Coarctation Of Aorta
Ventricular septal defect, Hypoplastic left heart ORPHA:1455
Parathyroid Carcinoma
Peptic ulcer, Pancreatitis, Episodic abdominal pain, Constipation, Hypercalcemia, Dysphagia, Hypo... ORPHA:143
Enthesitis-Related Juvenile Idiopathic Arthritis
Hip osteoarthritis, Knee osteoarthritis, Arthritis, Sacroiliac arthritis, Abnormal heart morpholo... ORPHA:85438
Hepatoportal Sclerosis
Gastric varix, Gastrointestinal hemorrhage, Esophageal varix, Hepatocellular carcinoma, Portal hy... ORPHA:64743
Diamond-Blackfan Anemia 12
Ventricular septal defect OMIM:615550
Kikuchi-Fujimoto Disease
Anorexia, Myocarditis, Abnormality of the gastrointestinal tract, Elevated circulating C-reactive... ORPHA:50918
Ehlers-Danlos Syndrome, Classic-Like, 1
Hiatus hernia, Quadricuspid aortic valve, Mitral valve prolapse OMIM:606408
Hereditary Pheochromocytoma-Paraganglioma
Nausea, Hypercalcemia, Episodic abdominal pain, Weight loss ORPHA:29072
Osteoglophonic Dysplasia
Respiratory distress, Downslanted palpebral fissures, Telecanthus, Shallow orbits OMIM:166250
Chylomicron Retention Disease
Steatorrhea, Accumulation of lipid droplets in small-bowel enterocytes OMIM:246700
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities
Telecanthus, Recurrent bronchitis, High palate, Eczematoid dermatitis, Long palpebral fissure, Re... OMIM:620330
Shwachman-Diamond Syndrome 1
Neonatal respiratory distress, Respiratory distress OMIM:260400
Cerebrocostomandibular Syndrome
Anal stenosis, Cleft soft palate, Gastroesophageal reflux, Short hard palate, Elbow flexion contr... OMIM:117650
Classical-Like Ehlers-Danlos Syndrome Type 2
Narrow palate, Bilateral ptosis, Periodontitis, High palate, Pericardial effusion, Mitral valve p... ORPHA:536532
Cystinosis, Nephropathic
Hypophosphatemic rickets, Hypopigmentation of hair, Reduced blood urea nitrogen, Hypokalemia, Dec... OMIM:219800
Marfanoid-Progeroid-Lipodystrophy Syndrome
High, narrow palate, High palate, Downslanted palpebral fissures, Mitral valve prolapse, Feeding ... OMIM:616914
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2
Hepatomegaly, High palate, Splenomegaly, Epicanthus, Weakness of facial musculature, Multiple pul... OMIM:619418
Loeys-Dietz Syndrome 6
Intervertebral disk degeneration, Ventricular hypertrophy, Camptodactyly, Arachnodactyly, Downsla... OMIM:619656
Pallister-Hall Syndrome
Nail dysplasia, Microphthalmia, Thyroid hypoplasia, Bifid uvula, Umbilical hernia, Inguinal herni... ORPHA:672
Neurodevelopmental Disorder With Dysmorphic Facies And Cerebellar Hypoplasia
Ventricular septal defect, Upslanted palpebral fissure, Flexion contracture OMIM:619306
Visceral Myopathy, Familial, With External Ophthalmoplegia
Ptosis, Spontaneous esophageal perforation OMIM:277320
Systemic Mastocytosis With Associated Hematologic Neoplasm
Peptic ulcer, Diarrhea, Abdominal pain, Nausea, Weight loss ORPHA:98849
Keutel Syndrome
Recurrent otitis media, Emphysema, Recurrent bronchitis, Miscarriage, Hypertension, Pulmonary art... OMIM:245150
Primary Biliary Cholangitis
Gastrointestinal inflammation, Xanthelasma, Steatorrhea, Hepatomegaly, Orthostatic hypotension, H... ORPHA:186
Cranioectodermal Dysplasia 3
Telecanthus, Broad nail, Short nail, Sparse hair, Fine hair OMIM:614099
Melkersson-Rosenthal Syndrome
Cheilitis, Macroglossia, Inflammatory abnormality of the skin, Furrowed tongue ORPHA:2483
Meckel Syndrome, Type 5
Microphthalmia, Cleft palate, Bile duct proliferation OMIM:611561
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome
High anterior hairline, Gastroesophageal reflux, Patent foramen ovale, Aspiration pneumonia, Almo... ORPHA:438213
Dysosteosclerosis
Ventricular septal defect ORPHA:1782
Steinert Myotonic Dystrophy
Respiratory failure requiring assisted ventilation, Bilateral ptosis, Respiratory insufficiency, ... ORPHA:273
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type
Microphthalmia ORPHA:163966
Holoprosencephaly 13, X-Linked
Cyclopia, Gastroesophageal reflux, Duodenal atresia, Patent foramen ovale, Median cleft palate, C... OMIM:301043
Symptomatic Form Of Fragile X Syndrome In Female Carriers
Gastroesophageal reflux, Recurrent otitis media, Mitral valve prolapse ORPHA:449291
Diamond-Blackfan Anemia 5
Ventricular septal defect OMIM:612528
Igg4-Related Dacryoadenitis And Sialadenitis
Abnormal salivary gland morphology, Myositis, Thyroiditis, Increased circulating IgA level, Xeros... ORPHA:79078
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Hepatocellular adenoma, Hepatomegaly, Esophageal varix, Cardiomyopathy, Splenomegaly, Polycystic ... ORPHA:264580
Cap Myopathy
High palate, Mitral valve prolapse ORPHA:171881
Holoprosencephaly 14
Cyclopia, Aortic valve atresia, Cleft palate, Double outlet right ventricle, Ventricular septal d... OMIM:619895
Microcephaly 20, Primary, Autosomal Recessive
Optic nerve hypoplasia, Microphthalmia OMIM:617914
Pachyonychia Congenita
Respiratory distress ORPHA:2309
Colchicine Poisoning
Cardiorespiratory arrest, Respiratory distress ORPHA:31824
Systemic Lupus Erythematosus
Anorexia, Cheilitis, Lupus nephritis, Malar rash, Arthritis, Discoid lupus rash, Weight loss, Ser... ORPHA:536
Anemia, Sideroblastic, And Spinocerebellar Ataxia
Increased erythrocyte protoporphyrin concentration, Weight loss OMIM:301310
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)
Respiratory distress, Jaundice, Death in infancy OMIM:617156
Isolated Arrhinia
Eyelid coloboma, Respiratory distress ORPHA:1134
Pseudoxanthoma Elasticum
Mitral stenosis, Gastrointestinal hemorrhage, Restrictive cardiomyopathy, Mitral valve prolapse OMIM:264800
Aortic Aneurysm, Familial Thoracic 10
Bicuspid aortic valve, Left ventricular hypertrophy OMIM:617168
Frontometaphyseal Dysplasia 1
Hirsutism, High palate, Downslanted palpebral fissures, Cleft palate, Mitral valve prolapse, Cor ... OMIM:305620
Occipital Horn Syndrome
Decreased circulating ceruloplasmin concentration, Decreased circulating copper concentration, Hi... OMIM:304150
Neuroendocrine Neoplasm Of Appendix
Tricuspid stenosis ORPHA:100079
Ulnar-Mammary Syndrome
Breast hypoplasia, Anal stenosis, Hypoplastic nipples, Elbow flexion contracture, Anal atresia, S... OMIM:181450
Hereditary Late-Onset Parkinson Disease
Chronic constipation, Dysphagia, Weight loss ORPHA:411602
Methylmalonic Acidemia With Homocystinuria, Type Cblc
Macular coloboma, Jaundice, Respiratory distress ORPHA:79282
Spondyloepiphyseal Dysplasia Congenita
Respiratory distress OMIM:183900
Beckwith-Wiedemann Syndrome
Enlarged kidney, Hepatomegaly, Cardiomyopathy, Diastasis recti, Hepatoblastoma, Pancreatic hyperp... OMIM:130650
Pfeiffer Syndrome Type 2
Respiratory distress ORPHA:93259
Fanconi Anemia, Complementation Group R
Microphthalmia, Anal atresia OMIM:617244
Congenital Disorder Of Glycosylation, Type Iiaa
Hepatomegaly, Persistent patent ductus venosus, Ventricular septal defect, Knee flexion contracture OMIM:620454
Pseudoxanthoma Elasticum, Forme Fruste
High, narrow palate, Gastrointestinal hemorrhage, High palate, Mitral valve prolapse OMIM:177850
Bannayan-Riley-Ruvalcaba Syndrome
Narrow palate, Intestinal polyposis, Cachexia, Hamartomatous polyposis, Abnormal large intestine ... ORPHA:109
Neurodevelopmental Disorder With Seizures, Microcephaly, And Brain Abnormalities
Coronary artery fistula, Atrial septal defect, Ventricular septal defect, Neonatal death OMIM:620024
Visceral Myopathy 1
Thinning of outer muscular layer of small bowel, Aganglionic megacolon, Pancreatitis, Intestinal ... OMIM:155310
Methylmalonic Aciduria, Cblb Type
Respiratory distress OMIM:251110
Pfeiffer Syndrome Type 3
Respiratory distress ORPHA:93260
Mitochondrial Complex I Deficiency, Nuclear Type 32
Respiratory failure, Death in childhood OMIM:618252
Combined Oxidative Phosphorylation Deficiency 15
Ventricular septal hypertrophy, Wolff-Parkinson-White syndrome, Hypertension, Ventricular septal ... OMIM:614947
Biliary, Renal, Neurologic, And Skeletal Syndrome
Inlet ventricular septal defect, Left-to-right shunt, Splenomegaly, Aortic regurgitation, Patent ... OMIM:619534
Adrenomyeloneuropathy
Fine hair, Frontal balding, Abnormal circulating fatty-acid concentration, Bowel incontinence ORPHA:139399
Schwartz-Jampel Syndrome
Cachexia, Decreased body weight, Elevated circulating creatine kinase concentration, Distichiasis... ORPHA:800
Methylmalonic Aciduria, Cbla Type
Respiratory distress OMIM:251100
Boudin-Mortier Syndrome
Mitral valve prolapse OMIM:619543
Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair
Red hair OMIM:609734
Wac-Related Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome
Long palpebral fissure, Nasal flaring, Epicanthus, Synophrys ORPHA:466943
Arima Syndrome
Optic atrophy, Hepatomegaly, Retinal dystrophy, Hypertension, Esophageal varix, Ptosis, Chorioret... OMIM:243910
Mitchell-Riley Syndrome
Meckel diverticulum, Intestinal malrotation, Acholic stools, Jejunal atresia, Anteriorly placed a... OMIM:615710
Sotos Syndrome
Chronic otitis media, Ankle flexion contracture, Astigmatism, Small cell lung carcinoma, Aganglio... ORPHA:821
Coffin-Lowry Syndrome
Narrow palate, Rectal prolapse, Telecanthus, Inguinal hernia, Highly arched eyebrow, Hyperconvex ... OMIM:303600
Renal Nutcracker Syndrome
Abdominal pain, Weight loss, Nausea ORPHA:71273
Cholestasis, Progressive Familial Intrahepatic, 8
Hepatomegaly, Sclerosing cholangitis, Esophageal varix, Portal hypertension, Bile duct proliferat... OMIM:619662
Hyperparathyroidism, Transient Neonatal
Respiratory distress OMIM:618188
Orofaciodigital Syndrome Xiv
Occipital encephalocele, Aplasia of the epiglottis, Telecanthus, Retinal coloboma, Bifid tongue, ... OMIM:615948
Diamond-Blackfan Anemia 10
Congenital diaphragmatic hernia, Morgagni diaphragmatic hernia, Ventricular septal defect, Cleft ... OMIM:613309
Erdheim-Chester Disease
Abdominal pain, Skin rash, Weight loss, Nausea and vomiting, Osteomyelitis ORPHA:35687
Pmm2-Cdg
Abnormal subcutaneous fat tissue distribution, Angina pectoris, Photoreceptor layer loss on macul... ORPHA:79318
Metaphyseal Chondromatosis With D-2-Hydroxyglutaric Aciduria
Downslanted palpebral fissures, Recurrent pneumonia, Telecanthus, Respiratory distress ORPHA:99646
Fryns-Smeets-Thiry Syndrome
Cachexia ORPHA:2058
Gerstmann-Straussler Disease
Weight loss OMIM:137440
Global Developmental Delay-Osteopenia-Ectodermal Defect Syndrome
Abnormality of hair texture, Tricuspid regurgitation, Synophrys, Thick eyebrow, Hypoplastic sweat... ORPHA:73223
Cholesteryl Ester Storage Disease
Steatorrhea, Hepatomegaly, Esophageal varix, Portal hypertension, Hepatosplenomegaly, Splenomegaly OMIM:278000
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome
Increased circulating IgE level, Decreased circulating antibody level, Decreased circulating IgG ... ORPHA:508533
Femoral-Facial Syndrome
Encephalocele, Gastroesophageal reflux, Truncus arteriosus, Spina bifida, Pulmonic stenosis, Camp... OMIM:134780
Cleft Palate, Cardiac Defect, Genital Anomalies, And Ectrodactyly
Death in childhood, Cleft palate, Tetralogy of Fallot, Ventricular septal defect, Absent pulmonar... OMIM:600460
Plummer-Vinson Syndrome
Cheilitis, Glossitis, Esophageal web, Dysphagia, Concave nail, Tongue atrophy ORPHA:54028
Diets-Jongmans Syndrome
Congenital diaphragmatic hernia, Ventricular septal defect, Duodenal atresia, Umbilical hernia OMIM:618846
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency
Hyperkalemia, Frontal balding, Hirsutism, Hypochloremia, Vomiting, Failure to thrive, Hyponatremi... ORPHA:90794
Multiple Endocrine Neoplasia Type 1
Hematemesis, Duodenal ulcer, Anorexia, Peptic ulcer, Melena, Gastroesophageal reflux, Diarrhea, A... ORPHA:652
Neurooculorenal Syndrome
Dextrocardia, Tetralogy of Fallot with pulmonary stenosis, Highly arched eyebrow, Patent foramen ... OMIM:620305
Seckel Syndrome
Cachexia, Sparse scalp hair ORPHA:808
Yellow Fever
Hematemesis, Increased circulating interleukin 6 concentration, Diarrhea, Abdominal pain, Skin ra... ORPHA:99829
Holoprosencephaly 1
Cyclopia, Microphthalmia, Median cleft palate, Single ventricle OMIM:236100
Right Pulmonary Artery, Anomalous Origin Of, Familial
Patent foramen ovale, Ventricular septal defect, Anomalous origin of right pulmonary artery from ... OMIM:610338
Orotic Aciduria
Atrial septal defect, Ventricular septal defect OMIM:258900
Otopalatodigital Syndrome, Type Ii
Respiratory insufficiency, Respiratory failure, Downslanted palpebral fissures, Stillbirth OMIM:304120
Mitochondrial Dna-Associated Leigh Syndrome
Episodic respiratory distress, Apnea, Dyspnea, Hyperventilation ORPHA:255210
Cutis Laxa, Autosomal Recessive, Type Iic
Entropion, Patent foramen ovale, Decreased body weight, High palate, Bilateral cryptorchidism, Me... OMIM:617402
Generalized Arterial Calcification Of Infancy
Left ventricular systolic dysfunction, Angioid streaks of the fundus, Choroidal neovascularizatio... ORPHA:51608
Ventriculomegaly With Cystic Kidney Disease
Ventricular septal defect OMIM:219730
Intellectual Disability-Seizures-Abnormal Gait-Facial Dysmorphism Syndrome
Recurrent otitis media, Gastroesophageal reflux, Lower-limb joint contracture, Sparse lateral eye... ORPHA:513456
Craniotubular Dysplasia, Ikegawa Type
Mydriasis, Ventricular septal defect, Epicanthus OMIM:619727
Sandhoff Disease, Infantile Form
Mitral valve prolapse ORPHA:309155
Mayer-Rokitansky-Küster-Hauser Syndrome
Pulmonic stenosis, Atrial septal defect ORPHA:3109
45,X/46,Xy Mixed Gonadal Dysgenesis
Short 4th metacarpal, Short metatarsal, Epicanthus, Bicuspid aortic valve, Hallux valgus ORPHA:1772
Microvillus Inclusion Disease
Abnormal small intestinal villus morphology, Hypovolemia, Villous atrophy ORPHA:2290
Cleidocranial Dysplasia 1
Neonatal respiratory distress, Respiratory distress OMIM:119600
Intellectual Developmental Disorder, X-Linked 112
Bicuspid aortic valve, Abnormal heart morphology OMIM:301111
Primary Fanconi Renotubular Syndrome
Bicarbonaturia, Hypophosphatemic rickets, Hypokalemia, Decreased circulating carnitine concentrat... ORPHA:3337
Short-Rib Thoracic Dysplasia 15 With Polydactyly
Downslanted palpebral fissures, Epicanthus, Respiratory distress OMIM:617088
Tsh-Secreting Pituitary Adenoma
Hypokalemia, Abnormal hair quantity, Vomiting, Weight loss, Nausea and vomiting ORPHA:91347
Tafro Syndrome
Increased circulating interleukin 6 concentration, Elevated circulating C-reactive protein concen... ORPHA:457077
Metachromatic Leukodystrophy
Abnormal stomach morphology, Intussusception, Neoplasm of the gallbladder, Abnormal duodenum morp... ORPHA:512
Atypical Werner Syndrome
Premature graying of hair, Aplasia/Hypoplasia of the eyebrow, Ovarian neoplasm, Abnormal hair mor... ORPHA:79474
Xeroderma Pigmentosum-Cockayne Syndrome Complex
Cachexia, Skin rash ORPHA:220295
Dyskeratosis Congenita, Autosomal Dominant 6
Esophageal stenosis, Nail dystrophy, Oral leukoplakia OMIM:616553
Orofaciodigital Syndrome Type 14
Aplasia of the epiglottis, Telecanthus, Retinal coloboma, Cleft palate, Lobulated tongue, Ventric... ORPHA:434179
Autosomal Dominant Polycystic Kidney Disease
Pancreatic cysts, Pituitary growth hormone cell adenoma, Pyelonephritis, Mitral valve prolapse ORPHA:730
Kyphoscoliotic Ehlers-Danlos Syndrome Due To Lysyl Hydroxylase 1 Deficiency
High, narrow palate, Recurrent pneumonia, Mitral valve prolapse ORPHA:1900
Superficial Siderosis
Persistent bleeding after trauma, Abnormal bleeding, Subarachnoid hemorrhage, Internal hemorrhage ORPHA:247245
Vater/Vacterl Association
Occipital encephalocele, Transposition of the great arteries, Esophageal atresia, Tracheoesophage... OMIM:192350
Early Infantile Epileptic Encephalopathy
Absent thumbnail, Ventricular septal defect, Cleft palate, Umbilical hernia ORPHA:1934
Woodhouse-Sakati Syndrome
Fine hair, Hyperlipidemia, Sparse hair, Alopecia OMIM:241080
Facial Dysmorphism-Anorexia-Cachexia-Eye And Skin Anomalies Syndrome
Anorexia, Cachexia, Short hard palate ORPHA:1969
Hydrolethalus Syndrome 1
Microphthalmia, Adrenal gland dysgenesis, Omphalocele, Cleft palate, Ventricular septal defect, C... OMIM:236680
Familial Thrombocytosis
Weight loss ORPHA:71493
Neutropenia, Severe Congenital, 4, Autosomal Recessive
Pulmonic stenosis, Cor triatriatum, Secundum atrial septal defect OMIM:612541
Townes-Brocks Syndrome 1
Anal stenosis, Rectovaginal fistula, Gastroesophageal reflux, Tracheoesophageal fistula, Rectoper... OMIM:107480
Benign Schwannoma
Abnormal parotid gland morphology, Intestinal polyposis, Abnormal esophagus morphology ORPHA:252164
Cirrhosis, Familial
Esophageal varix, Fulminant hepatitis, Hypertension, Pulmonary arterial hypertension OMIM:215600
Meester-Loeys Syndrome
High palate, Downslanted palpebral fissures, Bifid uvula, Mitral valve prolapse, Hypertrichosis OMIM:300989
Isolated Permanent Neonatal Diabetes Mellitus
Failure to thrive, Weight loss ORPHA:99885
Paroxysmal Nocturnal Hemoglobinuria
Anemia, Pancytopenia, Abnormal erythrocyte enzyme concentration or activity, Reticulocytosis, Leu... ORPHA:447
Cushing Syndrome Due To Ectopic Acth Secretion
Anorexia, Neoplasm of the stomach, Diarrhea, Increased body weight, Hirsutism, Sparse scalp hair,... ORPHA:99889
African Trypanosomiasis
Myocarditis, Iritis, Myelitis, Diarrhea, Optic neuritis, Vomiting, Nausea, Pericarditis, Keratiti... ORPHA:3385
Bartter Syndrome, Type 2, Antenatal
Impaired platelet aggregation OMIM:241200
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities
Atrial septal defect, Telecanthus, High palate, Downslanted palpebral fissures, Dysphagia, Epican... OMIM:619522
Congenital Disorder Of Glycosylation, Type Iiw
Hepatomegaly, Recurrent otitis media, Gastroesophageal reflux, Ankyloglossia, Tetralogy of Fallot... OMIM:619525
Hyperoxaluria, Primary, Type I
Cutis marmorata, Acrocyanosis OMIM:259900
Epidermolysis Bullosa, Junctional 6, With Pyloric Atresia
Esophageal stenosis, Congenital pyloric atresia OMIM:619817
Gitelman Syndrome
Respiratory distress ORPHA:358
Primary Hyperoxaluria
Cutis marmorata, Acrocyanosis ORPHA:416
Choreoacanthocytosis
Arthritis, Elevated circulating creatine kinase concentration, Protruding tongue, Dysphagia, Weig... ORPHA:2388
Stüve-Wiedemann Syndrome
Apnea, Respiratory distress ORPHA:3206
Osteogenesis Imperfecta, Type I
Mitral valve prolapse OMIM:166200
Craniometadiaphyseal Osteosclerosis With Hip Dysplasia
Atrial septal defect, Ventricular septal defect OMIM:620558
Senior-Boichis Syndrome
Esophageal varix, Hypertension, Hepatosplenomegaly, Portal hypertension ORPHA:84081
Camurati-Engelmann Disease
Anorexia, Cachexia, Slender build, Feeding difficulties in infancy ORPHA:1328
17Q11 Microdeletion Syndrome
Hypertrophic cardiomyopathy, Pulmonic stenosis, Downslanted palpebral fissures, Abnormal heart mo... ORPHA:97685
Aneurysm-Osteoarthritis Syndrome
Pulmonic stenosis, Abnormal heart morphology, Left ventricular hypertrophy ORPHA:284984
Proteus Syndrome
Abnormality of the nail, Cachexia, Generalized hirsutism ORPHA:744

Histopathology

Summary table of phenotypes displayed during the Histopathology procedure which are considered significant. Full histopathology data table, including submitted images, can be accessed by clicking any row in this table.

Phenotype Allele Zygosity Sex Life Stage
Spleen - MPATH diagnostic term extramedullary hemopoiesis Adam17tm1a(EUCOMM)Wtsi HET Early adult
Spleen - hyperplasia Adam17tm1a(EUCOMM)Wtsi HET Early adult
Thymus - hyperplasia Adam17tm1a(EUCOMM)Wtsi HET Early adult

IMPC related publications

The table below lists publications which used either products generated by the IMPC or data produced by the phenotyping efforts of the IMPC. These publications have also been associated to Adam17.

There are 2 publications which use IMPC produced mice or data.

Title Journal IMPC Allele PubMed ID
Large-scale neuroanatomical study uncovers 198 gene associations in mouse brain morphogenesis. Nature communications (August 2019) Adam17tm1a(EUCOMM)Wtsi PMC6671969
Mouse screen reveals multiple new genes underlying mouse and human hearing loss. PLoS biology (April 2019) Adam17tm1a(EUCOMM)Wtsi PMC6459510

Order Mouse and ES Cells

All available products are supplied via our member's centres or partnerships. When ordering a product from the IMPC you will be redirected to one of their websites or prompted to start an email.

MGI Allele Allele Type Produced
Adam17tm1a(EUCOMM)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Mice, Targeting vectors, ES Cells
Adam17tm1e(EUCOMM)Hmgu Targeted, non-conditional allele ES Cells
Adam17tm1a(EUCOMM)Hmgu KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Adam17tm1e(EUCOMM)Wtsi Targeted, non-conditional allele ES Cells

The IMPC Newsletter

Get highlights of the most important data releases, news and events, delivered straight to your email inbox

Subscribe to newsletter