Gene Summary

Name:
tissue inhibitor of metalloproteinase 1
Synonyms:
TIMP-1,  Clgi

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

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
abnormal humerus morphology Timp1tm1b(EUCOMM)Hmgu HEM Early adult 3.58×10-11
abnormal femur morphology Timp1tm1b(EUCOMM)Hmgu HEM Early adult 2.50×10-09

Download data as:  TSV  XLS

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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
Stomach  Wholemount images hemizygote 100% (1 of 1)
Testis  Wholemount images hemizygote 100% (1 of 1)
Thyroid gland  Wholemount images hemizygote 100% (1 of 1)
Trachea  Wholemount images hemizygote 100% (1 of 1)
Adrenal gland N/A hemizygote 0.0% (0 of 1)
Adrenal gland N/A heterozygote 0.0% (0 of 1)
Aorta N/A hemizygote 0.0% (0 of 1)
Aorta N/A heterozygote 0.0% (0 of 1)
Bone N/A hemizygote 0.0% (0 of 1)
Bone N/A heterozygote 0.0% (0 of 1)
Brain N/A hemizygote 0.0% (0 of 1)
Brain N/A heterozygote 0.0% (0 of 1)
Brainstem N/A hemizygote 0.0% (0 of 1)
Brainstem N/A heterozygote 0.0% (0 of 1)
Brown adipose tissue N/A hemizygote 0.0% (0 of 1)
Brown adipose tissue N/A heterozygote 0.0% (0 of 1)
Cartilage tissue N/A hemizygote 0.0% (0 of 1)
Cartilage tissue N/A heterozygote 0.0% (0 of 1)
Cerebellum N/A hemizygote 0.0% (0 of 1)
Cerebellum N/A heterozygote 0.0% (0 of 1)
Cerebral cortex N/A hemizygote 0.0% (0 of 1)
Cerebral cortex N/A heterozygote 0.0% (0 of 1)
Esophagus N/A hemizygote 0.0% (0 of 1)
Esophagus N/A heterozygote 0.0% (0 of 1)
Eye N/A hemizygote 0.0% (0 of 1)
Eye N/A heterozygote 0.0% (0 of 1)
Gall bladder N/A hemizygote 0.0% (0 of 1)
Gall bladder N/A heterozygote 0.0% (0 of 1)
Heart N/A hemizygote 0.0% (0 of 1)
Heart N/A heterozygote 0.0% (0 of 1)
Hippocampus N/A hemizygote 0.0% (0 of 1)
Hippocampus N/A heterozygote 0.0% (0 of 1)
Hypothalamus N/A hemizygote 0.0% (0 of 1)
Hypothalamus N/A heterozygote 0.0% (0 of 1)
Kidney N/A hemizygote 0.0% (0 of 1)
Kidney N/A heterozygote 0.0% (0 of 1)
Large intestine N/A hemizygote 0.0% (0 of 1)
Large intestine N/A heterozygote 0.0% (0 of 1)
Liver N/A hemizygote 0.0% (0 of 1)
Liver N/A heterozygote 0.0% (0 of 1)
Lower urinary tract N/A hemizygote 0.0% (0 of 1)
Lower urinary tract N/A heterozygote 0.0% (0 of 1)
Lung N/A hemizygote 0.0% (0 of 1)
Lung N/A heterozygote 0.0% (0 of 1)
Lymph node N/A hemizygote 0.0% (0 of 1)
Lymph node N/A heterozygote 0.0% (0 of 1)
Mammary gland N/A hemizygote Not available
Mammary gland N/A heterozygote 0.0% (0 of 1)
Olfactory lobe N/A hemizygote 0.0% (0 of 1)
Olfactory lobe N/A heterozygote 0.0% (0 of 1)
Oral epithelium N/A hemizygote 0.0% (0 of 1)
Oral epithelium N/A heterozygote 0.0% (0 of 1)
Ovary N/A hemizygote Not available
Ovary N/A heterozygote 0.0% (0 of 1)
Oviduct N/A hemizygote Not available
Oviduct N/A heterozygote 0.0% (0 of 1)
Pancreas N/A hemizygote 0.0% (0 of 1)
Pancreas N/A heterozygote 0.0% (0 of 1)
Parathyroid gland N/A hemizygote 0.0% (0 of 1)
Parathyroid gland N/A heterozygote 0.0% (0 of 1)
Peripheral nervous system N/A hemizygote 0.0% (0 of 1)
Peripheral nervous system N/A heterozygote 0.0% (0 of 1)
Peyer's patch N/A hemizygote 0.0% (0 of 1)
Peyer's patch N/A heterozygote 0.0% (0 of 1)
Pituitary gland N/A hemizygote 0.0% (0 of 1)
Pituitary gland N/A heterozygote 0.0% (0 of 1)
Prostate gland N/A hemizygote 0.0% (0 of 1)
Prostate gland N/A heterozygote Not available
Skeletal muscle N/A hemizygote 0.0% (0 of 1)
Skeletal muscle N/A heterozygote 0.0% (0 of 1)
Skin N/A hemizygote 0.0% (0 of 1)
Skin N/A heterozygote 0.0% (0 of 1)
Small intestine N/A hemizygote 0.0% (0 of 1)
Small intestine N/A heterozygote 0.0% (0 of 1)
Spinal cord N/A hemizygote 0.0% (0 of 1)
Spinal cord N/A heterozygote 0.0% (0 of 1)
Spleen N/A hemizygote 0.0% (0 of 1)
Spleen N/A heterozygote 0.0% (0 of 1)
Stomach N/A heterozygote 100% (1 of 1)
Striatum N/A hemizygote 0.0% (0 of 1)
Striatum N/A heterozygote 0.0% (0 of 1)
Testis N/A heterozygote Not available
Thymus N/A hemizygote 0.0% (0 of 1)
Thymus N/A heterozygote 0.0% (0 of 1)
Thyroid gland N/A heterozygote 100% (1 of 1)
Trachea N/A heterozygote 100% (1 of 1)
Uterus N/A hemizygote Not available
Uterus N/A heterozygote 0.0% (0 of 1)
Vascular system N/A hemizygote 0.0% (0 of 1)
Vascular system N/A heterozygote 0.0% (0 of 1)
White adipose tissue N/A hemizygote 0.0% (0 of 1)
White adipose tissue N/A heterozygote 0.0% (0 of 1)

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

Anatomy Images Zygosity Mutant Expr
Brain N/A hemizygote 0.0% (0 of 1)
Brain N/A heterozygote 0.0% (0 of 1)
Brain N/A homozygote 0.0% (0 of 1)
Ear N/A hemizygote 0.0% (0 of 1)
Ear N/A heterozygote 0.0% (0 of 1)
Ear N/A homozygote 0.0% (0 of 1)
Embryo N/A hemizygote 0.0% (0 of 1)
Embryo N/A heterozygote 0.0% (0 of 1)
Embryo N/A homozygote 0.0% (0 of 1)
Eye N/A hemizygote 0.0% (0 of 1)
Eye N/A heterozygote 0.0% (0 of 1)
Eye N/A homozygote 0.0% (0 of 1)
Footplate N/A hemizygote 0.0% (0 of 1)
Footplate N/A heterozygote 0.0% (0 of 1)
Footplate N/A homozygote 0.0% (0 of 1)
Forebrain N/A hemizygote 0.0% (0 of 1)
Forebrain N/A heterozygote 0.0% (0 of 1)
Forebrain N/A homozygote 0.0% (0 of 1)
Forelimb N/A hemizygote 0.0% (0 of 1)
Forelimb N/A heterozygote 0.0% (0 of 1)
Forelimb N/A homozygote 0.0% (0 of 1)
Handplate N/A hemizygote 0.0% (0 of 1)
Handplate N/A heterozygote 0.0% (0 of 1)
Handplate N/A homozygote 0.0% (0 of 1)
Head N/A hemizygote 0.0% (0 of 1)
Head N/A heterozygote 0.0% (0 of 1)
Head N/A homozygote 0.0% (0 of 1)
Heart N/A hemizygote 0.0% (0 of 1)
Heart N/A heterozygote 0.0% (0 of 1)
Heart N/A homozygote 0.0% (0 of 1)
Hindbrain N/A hemizygote 0.0% (0 of 1)
Hindbrain N/A heterozygote 0.0% (0 of 1)
Hindbrain N/A homozygote 0.0% (0 of 1)
Hindlimb N/A hemizygote 0.0% (0 of 1)
Hindlimb N/A heterozygote 0.0% (0 of 1)
Hindlimb N/A homozygote 0.0% (0 of 1)
Liver N/A hemizygote 0.0% (0 of 1)
Liver N/A heterozygote 0.0% (0 of 1)
Liver N/A homozygote 0.0% (0 of 1)
Lung N/A hemizygote 0.0% (0 of 1)
Lung N/A heterozygote 0.0% (0 of 1)
Lung N/A homozygote 0.0% (0 of 1)
Mandibular process N/A hemizygote 0.0% (0 of 1)
Mandibular process N/A heterozygote 0.0% (0 of 1)
Mandibular process N/A homozygote 0.0% (0 of 1)
Maxillary process N/A hemizygote 0.0% (0 of 1)
Maxillary process N/A heterozygote 0.0% (0 of 1)
Maxillary process N/A homozygote 0.0% (0 of 1)
Midbrain N/A hemizygote 0.0% (0 of 1)
Midbrain N/A heterozygote 0.0% (0 of 1)
Midbrain N/A homozygote 0.0% (0 of 1)
Oral cavity N/A hemizygote 0.0% (0 of 1)
Oral cavity N/A heterozygote 0.0% (0 of 1)
Oral cavity N/A homozygote 0.0% (0 of 1)
Skin N/A hemizygote 0.0% (0 of 1)
Skin N/A heterozygote 0.0% (0 of 1)
Skin N/A homozygote 0.0% (0 of 1)
Tail somite N/A hemizygote 0.0% (0 of 1)
Tail somite N/A heterozygote 0.0% (0 of 1)
Tail somite N/A homozygote 0.0% (0 of 1)
Tail N/A hemizygote 0.0% (0 of 1)
Tail N/A heterozygote 0.0% (0 of 1)
Tail N/A homozygote 0.0% (0 of 1)

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

Anatomy Background staining in controls (WT)
adrenal gland 0.67% (4 of 598)
aorta 0.17% (1 of 598)
bone 0.0%
brain 0.84% (5 of 598)
brainstem 0.33% (2 of 598)
brown adipose tissue 0.0%
cartilage tissue 0.17% (1 of 598)
cerebellum 0.5% (3 of 598)
cerebral cortex 0.33% (2 of 598)
esophagus 1.66% (7 of 422)
eye 0.0%
gall bladder 0.0%
heart 0.33% (2 of 598)
hippocampus 0.5% (3 of 598)
hypothalamus 0.33% (2 of 598)
kidney 4.52% (27 of 598)
large intestine 5.35% (32 of 598)
liver 0.0%
lower urinary tract 0.17% (1 of 598)
lung 0.33% (2 of 598)
lymph node 0.17% (1 of 598)
mammary gland 0.0%
olfactory lobe 0.33% (2 of 598)
oral epithelium 0.0%
ovary 0.17% (1 of 598)
oviduct 0.0%
pancreas 0.84% (5 of 598)
parathyroid gland 0.17% (1 of 576)
peripheral nervous system 0.33% (2 of 598)
peyers patch 0.0%
pituitary gland 0.17% (1 of 598)
prostate gland 2.17% (13 of 598)
skeletal muscle 0.0%
skin 0.17% (1 of 598)
small intestine 5.35% (32 of 598)
spinal cord 0.5% (3 of 598)
spleen 0.5% (3 of 598)
stomach 3.68% (22 of 598)
striatum 0.5% (3 of 598)
testis 1% (6 of 598)
thymus 0.17% (1 of 598)
thyroid gland 3.01% (18 of 598)
trachea 0.5% (3 of 598)
uterus 0.33% (2 of 598)
vascular system 0.0%
white adipose tissue 0.0%

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

Background staining occurs in wild type embryos at a measurable rate.

Anatomy Background staining in controls(WT)
brain 1.18% (6 of 510)
ear 0.2% (1 of 510)
embryo 0.39% (2 of 511)
eye 0.2% (1 of 510)
footplate 0.2% (1 of 510)
forebrain 0.2% (1 of 510)
forelimb 0.2% (1 of 510)
handplate 0.2% (1 of 510)
head 0.98% (5 of 510)
heart 0.2% (1 of 510)
hindbrain 1.18% (6 of 510)
hindlimb 0.2% (1 of 510)
liver 0.2% (1 of 505)
lung 0.2% (1 of 505)
mandibular process 0.2% (1 of 510)
maxillary process 0.2% (1 of 510)
midbrain 0.2% (1 of 510)
oral cavity 0.2% (1 of 505)
skin 0.2% (1 of 510)
tail 0.2% (1 of 510)
tail somite group 0.2% (1 of 510)

Associated Images

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

X-ray

XRay Images Whole Body Lateral Orientation

10 Images

X-ray

XRay Images Whole Body Dorso Ventral

10 Images

Echo

M-Mode Images

28 Images

X-ray

XRay Images Skull Dorso Ventral Orientation

10 Images

Embryo LacZ

LacZ images wholemount

8 Images

Adult LacZ

LacZ Images Wholemount

3 Images

Auditory Brain Stem Response

Click-evoked + 6 to 30kHz tone waveforms (pdf format)

2 Images

Human diseases caused by Timp1 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.

No human diseases associated to this gene by orthology or annotation.

The table below shows human diseases predicted to be associated to Timp1 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Genochondromatosis
Metaphyseal chondromatosis of femur, Metaphyseal chondromatosis of humerus OMIM:137360
Immunodeficiency 34
Recurrent mycobacterial infections, Severe recurrent varicella OMIM:300645
Immunodeficiency 30
Recurrent mycobacterial infections, Recurrent infections OMIM:614891
Immunodeficiency 28
Recurrent mycobacterial infections OMIM:614889
Neutrophil Actin Dysfunction
Recurrent bacterial infections OMIM:257150
Ciliary Discoordination Due To Random Ciliary Orientation
Recurrent infections OMIM:215518
Complement Component 7 Deficiency
Recurrent meningococcal disease, Recurrent Neisserial infections OMIM:610102
Pacman Dysplasia
Epiphyseal stippling, Bowing of the long bones OMIM:167220
Complement Factor D Deficiency
Recurrent bacterial infections OMIM:613912
Genu Valgum, St. Helena Familial
Genu valgum OMIM:137370
Hyperaldosteronism, Familial, Type Iv
Hypertension OMIM:617027
Prenatal Bowing
Bowing of the long bones OMIM:264050
Hydatidiform Mole
Anemia, Enlarged uterus, Hyperthyroidism, Menometrorrhagia ORPHA:99927
Pulmonary Blastoma
Pleuropulmonary blastoma, Cough, Recurrent pneumonia, Dyspnea, Weight loss ORPHA:64741
Adenomyosis
Adenomyosis, Dysmenorrhea OMIM:600458
Immunodeficiency, X-Linked, With Deficiency Of 115,000 Dalton Surface Glycoprotein
Recurrent protozoan infections, Recurrent viral infections, Recurrent bacterial infections OMIM:308220
Endometriosis, Susceptibility To, 1
Endometriosis, Dysmenorrhea, Decreased fertility OMIM:131200
Aortic Aneurysm, Familial Thoracic 6
Premature coronary artery atherosclerosis, Thoracic aortic aneurysm, Ascending aortic dissection,... OMIM:611788
Gonadoblastoma
Ovarian gonadoblastoma, Increased serum testosterone level, Gonadal dysgenesis with female appear... ORPHA:206484
Rhizomelic Chondrodysplasia Punctata, Type 3
Rhizomelia, Short humerus, Epiphyseal stippling, Short femur OMIM:600121
Immunodeficiency 51
Chronic furunculosis, Chronic oral candidiasis, Folliculitis, Recurrent cutaneous fungal infectio... OMIM:613953
Aortic Aneurysm, Familial Thoracic 7
Descending aortic dissection, Ascending aortic dissection, Aortic rupture, Aortic aneurysm OMIM:613780
Aortic Aneurysm, Familial Thoracic 4
Abnormal left ventricular function, Posterior cerebral artery stenosis, Stroke, Thoracic aortic a... OMIM:132900
Hypoplastic Femurs And Pelvis
Hypoplastic pelvis, Short femur OMIM:619545
Metaphyseal Anadysplasia
Abnormal morphology of ulna, Abnormal ulnar metaphysis morphology, Aplasia/Hypoplasia of the radi... ORPHA:1040
Immunodeficiency Due To Interleukin-1 Receptor-Associated Kinase-4 Deficiency
Recurrent bacterial infections, Recurrent streptococcus pneumoniae infections, Recurrent staphylo... ORPHA:70592
Heparin-Induced Thrombocytopenia
Abnormal onset of bleeding, Pulmonary embolism, Autoimmune thrombocytopenia, Cerebral ischemia, M... ORPHA:3325
Ovarian Dysgenesis 7
Hypoplasia of the uterus, Primary amenorrhea, Delayed puberty OMIM:618117
Aortic Aneurysm, Familial Thoracic 8
Ascending aortic dissection, Abdominal aortic aneurysm, Coronary artery aneurysm, Coronary artery... OMIM:615436
Familial Aortic Dissection
Carotid artery dilatation, Peripheral arterial stenosis, Abnormal left ventricular function, Stro... ORPHA:229
Idiopathic Achalasia
Wheezing, Cough, Recurrent aspiration pneumonia, Bronchitis, Weight loss ORPHA:930
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency
Ambiguous genitalia, female, Decreased circulating cortisol level, Increased circulating renin le... ORPHA:90791
Immunodeficiency 11
Recurrent respiratory infections, Pneumonia OMIM:615206
Trochlea Of The Humerus, Aplasia Of
Short humerus OMIM:191000
Congenital Adrenal Hyperplasia Due To 11-Beta-Hydroxylase Deficiency
Ambiguous genitalia, female, Decreased circulating cortisol level, Premature thelarche, Long peni... ORPHA:90795
Tuberculosis
Abnormal lung morphology, Weight loss, Cough ORPHA:3389
Immunodeficiency 11B With Atopic Dermatitis
Atopic dermatitis, Asthma, Eosinophilia, Pneumonia OMIM:617638
Acheiropodia
Aplasia of the ulna, Absent hand, Upper limb phocomelia, Short humerus, Abnormal epiphysis morpho... ORPHA:931
Moyamoya Disease 5
Ascending tubular aorta aneurysm, Moyamoya phenomenon OMIM:614042
Ring Chromosome 4 Syndrome
Split hand, Abnormal morphology of ulna, Aplasia/Hypoplasia of the radius ORPHA:1447
Allergic Bronchopulmonary Aspergillosis
Asthma, Abnormal eosinophil morphology, Respiratory insufficiency, Cough, Emphysema, Bronchiectas... ORPHA:1164
Rhizomelic Dysplasia, Patterson-Lowry Type
Coxa vara, Deformed humeral heads, Short humerus, Brachydactyly, Rhizomelia, Short metatarsal, Sh... OMIM:601438
Fibular Aplasia-Ectrodactyly Syndrome
Split hand, Aplasia/Hypoplasia of the fibula, Abnormal morphology of ulna ORPHA:1118
Aortic Aneurysm, Familial Thoracic 11, Susceptibility To
Descending aortic dissection, Ascending aortic dissection, Aortic aneurysm OMIM:617349
Complete Androgen Insensitivity Syndrome
Increased serum testosterone level, Blind vagina, Increased antimullerian hormone level, Abnormal... ORPHA:99429
Acute Myelomonocytic Leukemia
Leukocytosis, Abnormal bleeding, Eosinophilia, Weight loss, Dyspnea, Anemia, Thrombocytopenia ORPHA:517
Aortic Aneurysm, Familial Abdominal, 1
Abdominal aortic aneurysm OMIM:100070
Ovarian Dysgenesis 9
Hypoplasia of the ovary, Hypoplasia of the uterus, Elevated circulating luteinizing hormone level... OMIM:619665
Femur-Fibula-Ulna Complex
Abnormality of femur morphology, Abnormal morphology of ulna, Short humerus, Micromelia, Aplasia/... ORPHA:2019
Antithrombin Iii Deficiency
Pulmonary embolism, Arterial occlusion OMIM:613118
Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency
Increased serum testosterone level, Decreased circulating aldosterone level, Hypoplasia of the ut... OMIM:202010
46,Xx Sex Reversal 5
Urogenital sinus anomaly, Ambiguous genitalia, Increased serum testosterone level OMIM:618901
Hypersecretion Of Adrenal Androgens, Familial
Adrenal overactivity, Premature pubarche, Increased circulating androgen concentration OMIM:145295
Immunodeficiency 35
Recurrent mycobacterial infections, Recurrent viral infections, Recurrent fungal infections, Recu... OMIM:611521
Spondyloepimetaphyseal Dysplasia, Missouri Type
Metaphyseal irregularity, Tibial bowing, Femoral bowing, Flared metaphysis, Genu varum, Flattened... ORPHA:93356
Partial Androgen Insensitivity Syndrome
Urogenital sinus anomaly, Abnormal circulating estrogen level, Increased serum testosterone level... ORPHA:90797
Idiopathic Bronchiectasis
Reduced FEV1/FVC ratio, Cachexia, Crackles, Acute infectious pneumonia, Wheezing, Recurrent lower... ORPHA:60033
Ovarian Dysgenesis 2
Hypoplasia of the uterus, Streak ovary, Hypergonadotropic hypogonadism, Primary amenorrhea, Secon... OMIM:300510
Rhizomelic Dysplasia, Ain-Naz Type
Short femur, Short humerus, Hypoplasia of the femoral head, Short femoral neck, Wide distal femor... OMIM:619598
Myelolymphatic Insufficiency
Recurrent viral infections, Recurrent bacterial infections OMIM:310350
Metaphyseal Anadysplasia 2
Bowing of the legs, Metaphyseal irregularity, Metaphyseal widening, Micromelia, Genu varum, Short... OMIM:613073
Premature Ovarian Failure 7
Hypoplasia of the uterus, Elevated circulating luteinizing hormone level, Primary amenorrhea, Gon... OMIM:612964
T-Cell Lymphopenia, Infantile, With Or Without Nail Dystrophy, Autosomal Dominant
Abnormally low T cell receptor excision circle level, Recurrent upper respiratory tract infection... OMIM:618806
Premature Ovarian Failure 18
Hypoplasia of the ovary, Hypoplasia of the uterus, Elevated circulating luteinizing hormone level... OMIM:619203
Immunodeficiency, Common Variable, 5
Recurrent bacterial infections, Recurrent respiratory infections OMIM:613495
Polyembryoma
Increased serum serotonin, Abnormality of the endocrine system, Increased serum testosterone leve... ORPHA:180229
46,Xy Sex Reversal 11
Urogenital sinus anomaly, Decreased serum testosterone concentration, Gonadal dysgenesis with fem... OMIM:273250
Asherman Syndrome
Infertility, Dysmenorrhea, Metrorrhagia, Oligomenorrhea, Abnormality of the menstrual cycle, Decr... ORPHA:137686
Immunodeficiency 31B
Recurrent mycobacterial infections, Recurrent viral infections OMIM:613796
Neutropenia, Severe Congenital, 6, Autosomal Recessive
Failure to thrive, Recurrent otitis media, Recurrent respiratory infections, Neutropenia OMIM:616022
Aorto-Ventricular Tunnel
Abnormal coronary artery morphology, Heart murmur, Aorto-ventricular tunnel, Aortic root aneurysm... ORPHA:3400
Immunodeficiency 104
Otitis media, Splenomegaly, Eczema, T lymphocytopenia, Chronic mucocutaneous candidiasis, Pneumon... OMIM:608971
Immunodeficiency, Partial Combined, With Absence Of Hla Determinants And Beta-2-Microglobulin From Lymphocytes
Recurrent candida infections, Recurrent bacterial infections OMIM:242870
Perrault Syndrome 6
Hypoplasia of the uterus, Streak ovary, Irregular menstruation, Primary amenorrhea, Secondary ame... OMIM:617565
Combined Immunodeficiency, X-Linked
Sinusitis, Otitis media, Decreased proportion of CD8-positive T cells, Decreased proportion of CD... OMIM:312863
Immunodeficiency 48
Failure to thrive, Eczematoid dermatitis, Splenomegaly, Pneumonia, Absence of CD8-positive T cell... OMIM:269840
Gordon Holmes Syndrome
Hypogonadotropic hypogonadism, Oligomenorrhea, Infertility OMIM:212840
Thrombophilia Due To Thrombomodulin Defect
Pulmonary embolism OMIM:614486
Premature Ovarian Failure 13
Amenorrhea, Hypoplasia of the uterus, Female infertility, Oligomenorrhea, Elevated circulating fo... OMIM:617442
Congenital Heart Defects, Multiple Types, 2
Aortic valve stenosis, Left ventricular outflow tract obstruction, Tetralogy of Fallot, Aortic re... OMIM:614980
Isolated Congenital Hypoglossia/Aglossia
Respiratory distress, Aspiration pneumonia, Upper airway obstruction, Dyspnea, Weight loss ORPHA:141152
Hypogonadotropic Hypogonadism 11 With Or Without Anosmia
Micropenis, Hypogonadotropic hypogonadism, Absence of pubertal development, Primary amenorrhea, D... OMIM:614840
Ovarian Dysgenesis 5
Hypoplasia of the uterus, Primary amenorrhea OMIM:617690
Familial Hyperprolactinemia
Amenorrhea, Infertility, Oligomenorrhea, Menorrhagia, Hemorrhagic ovarian cyst, Female hypogonadism ORPHA:397685
Camptomelic Syndrome, Long-Limb Type
Micromelia, Bowing of the long bones OMIM:211990
X-Linked Intellectual Disability-Macrocephaly-Macroorchidism Syndrome
Macroorchidism ORPHA:85320
Slc35A1-Cdg
Respiratory distress, Neutropenia, Subcutaneous hemorrhage, Abnormal bleeding, Pulmonary hemorrha... ORPHA:238459
Thrombophilia, X-Linked, Due To Factor Viii Defect
Pulmonary embolism OMIM:301071
Premature Ovarian Failure 3
Secondary amenorrhea, Hypoplasia of the uterus, Premature ovarian insufficiency OMIM:608996
Premature Ovarian Failure 6
Female infertility, Hypoplasia of the uterus, Streak ovary, Elevated circulating luteinizing horm... OMIM:612310
Ovarian Fibrothecoma
Increased serum testosterone level, Abnormal endometrium morphology, Abnormal circulating hormone... ORPHA:314478
Metaphyseal Chondrodysplasia, Schmid Type
Femoral bowing, Short long bone, Metaphyseal cupping of proximal phalanges, Metaphyseal irregular... ORPHA:174
Hypogonadotropic Hypogonadism 12 With Or Without Anosmia
Hypoplasia of the ovary, Decreased serum testosterone concentration, Hypoplasia of the uterus, Mi... OMIM:614841
Distal 7Q11.23 Microduplication Syndrome
Cryptorchidism, Patent ductus arteriosus, Aortic aneurysm ORPHA:261102
Intellectual Developmental Disorder, X-Linked 14
Macroorchidism OMIM:300062
Spermatogenic Failure 15
Abnormal circulating luteinizing hormone concentration, Abnormal circulating follicle-stimulating... OMIM:616950
46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome
Infertility, Abnormal vagina morphology, Hypoplasia of the uterus, Decreased serum testosterone c... ORPHA:168563
Metaphyseal Chondrodysplasia, Schmid Type
Short distal phalanx of finger, Metaphyseal irregularity, Metaphyseal cupping of proximal phalang... OMIM:156500
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive
Failure to thrive, Otitis media, Purulent rhinitis, B lymphocytopenia, T lymphocytopenia, Arthrit... OMIM:601457
Pigmented Nodular Adrenocortical Disease, Primary, 1
Paradoxical increased cortisol secretion on dexamethasone suppression test, Increased serum testo... OMIM:610489
Multisystemic Smooth Muscle Dysfunction Syndrome
Brachiocephalic artery aneurysm, Thoracic aortic aneurysm, Aortic arch aneurysm, Pulmonary artery... OMIM:613834
Agammaglobulinemia 3, Autosomal Recessive
Failure to thrive, Neutropenia, Recurrent bronchitis, Recurrent otitis media, Recurrent respirato... OMIM:613501
Double Uterus-Hemivagina-Renal Agenesis Syndrome
Dyspareunia, Dysmenorrhea, Metrorrhagia, Uterus didelphys, Abnormal uterine cervix morphology, Pa... ORPHA:3411
Acromesomelic Dysplasia 2A
Short femur, Hypoplasia of the radius, Short tibia, Short humerus, Aplasia/Hypoplasia of the pate... OMIM:200700
Acromesomelic Dysplasia 2C
Distal femoral bowing, Radial bowing, Hypoplasia of the radius, Short tibia, Shortening of all pr... OMIM:201250
47,Xyy Syndrome
Increased serum testosterone level, Cryptorchidism, Micropenis, Hypospadias, Oligospermia, Varico... ORPHA:8
Estrogen Resistance
Hypoplasia of the uterus, Hyperinsulinemia, Primary amenorrhea OMIM:615363
Non-Functioning Pituitary Adenoma
Central adrenal insufficiency, Hypogonadism, Central diabetes insipidus, Abnormality of the pitui... ORPHA:91349
Thrombocytopenia, Cyclic
Abnormal bleeding, Cyclic neutropenia, Thrombocytopenia, Neutropenia OMIM:188020
Congenital Bowing Of Long Bones
Bowing of the long bones ORPHA:2292
46,Xy Gonadal Dysgenesis With Minifascicular Neuropathy
Hypergonadotropic hypogonadism, Primary amenorrhea, Gonadal dysgenesis OMIM:607080
Functioning Gonadotropic Adenoma
Increased serum testosterone level, Adrenocorticotropic hormone deficiency, Abnormal prolactin le... ORPHA:91348
Hyperprolactinemia
Increased circulating prolactin concentration, Infertility, Oligomenorrhea, Menorrhagia OMIM:615555
Ciliary Dyskinesia, Primary, 44
Reduced forced expiratory volume in one second, Otitis media, Reduced forced vital capacity, Recu... OMIM:618781
Hypogonadotropic Hypogonadism 8 With Or Without Anosmia
Hypoplasia of the uterus, Micropenis, Hypogonadotropic hypogonadism, Primary amenorrhea, Gonadotr... OMIM:614837
Bronchiolitis Obliterans With Obstructive Pulmonary Disease
Reduced forced expiratory volume in one second, Reduced FEV1/FVC ratio, Airway obstruction, Bronc... ORPHA:1303
Granulomatous disease with defect in neutrophil chemotaxis
Recurrent staphylococcal infections OMIM:233670
Hypogonadotropic Hypogonadism 7 With Or Without Anosmia
Infertility, Micropenis, Hypogonadotropic hypogonadism, Primary amenorrhea, Decreased testicular ... OMIM:146110
Spermatogenic Failure 2
Abnormal circulating luteinizing hormone concentration, Abnormal circulating follicle-stimulating... OMIM:108420
Immunodeficiency 32B
Sinusitis, Splenomegaly, Pneumonia, Bronchiectasis, Recurrent respiratory infections OMIM:226990
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis
Lymphopenia, Glomerulonephritis, Plasmacytosis, Pneumonia, Autoimmune hemolytic anemia OMIM:247800
Gollop-Wolfgang Complex
Aplasia/Hypoplasia of the ulna, Ectrodactyly, Aplasia/Hypoplasia of the tibia, Hand monodactyly, ... ORPHA:1986
Perrault Syndrome 3
Hypergonadotropic hypogonadism, Hypoplasia of the uterus, Primary amenorrhea OMIM:614129
Trimethylaminuria
Splenomegaly, Tachycardia, Recurrent pneumonia, Neutropenia, Hypertension, Anemia OMIM:602079
Aortic Aneurysm, Familial Thoracic 9
Atrial fibrillation, Aortic tortuosity, Ascending aortic dissection, Thoracic aortic aneurysm OMIM:616166
Prolactin Deficiency With Obesity And Enlarged Testes
Reduced circulating prolactin concentration, Macroorchidism OMIM:264120
Respiratory Bronchiolitis-Interstitial Lung Disease Syndrome
Reduced FEV1/FVC ratio, Chronic pulmonary obstruction, Hypoxemia, Chronic bronchitis, Nonproducti... ORPHA:79127
Spondyloepimetaphyseal Dysplasia With Hypotrichosis
Delayed epiphyseal ossification, Proximal humeral metaphyseal irregularity, Coxa vara, Flared ili... OMIM:183849
Intellectual Developmental Disorder, X-Linked, Syndromic 32
Macroorchidism, Congestive heart failure OMIM:300886
Thrombophilia Due To Thrombin Defect
Pulmonary embolism OMIM:188050
Ciliary Dyskinesia, Primary, 9
Recurrent otitis media, Chronic otitis media, Cough, Chronic rhinitis, Recurrent sinusitis, Chron... OMIM:612444
Leptin Deficiency Or Dysfunction
Micropenis, Recurrent upper respiratory tract infections, Primary amenorrhea, Decreased serum lep... OMIM:614962
Cardiomyopathy, Dilated, 1B
Ventricular arrhythmia, Impaired myocardial contractility, Dilated cardiomyopathy, Vascular dilat... OMIM:600884
Chronic Beryllium Disease
Reduced FEV1/FVC ratio, Lymphocytic interstitial pneumonia, Hypersensitivity pneumonitis, Respira... ORPHA:133
Perrault Syndrome 4
Hypoplasia of the ovary, Hypoplasia of the uterus, Bicornuate uterus, Primary amenorrhea, Oligome... OMIM:615300
Upper Limb Mesomelic Dysplasia
Hypoplasia of the ulna, Radial bowing, Ulnar deviation of finger ORPHA:2497
Ovarian Hyperstimulation Syndrome
Increased serum testosterone level, Ovarian cyst, Hypovolemia, Hemorrhagic ovarian cyst, Increase... ORPHA:64739
Pleural Mesothelioma
Respiratory distress, Abnormal pleura morphology, Cough, Abnormal cardiovascular system physiolog... ORPHA:50251
Thrombophilia Due To Protein C Deficiency, Autosomal Dominant
Pulmonary embolism OMIM:176860
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency
Hyperactive renin-angiotensin system, Ambiguous genitalia, female, Abnormal external genitalia, D... ORPHA:90794
Acrocapitofemoral Dysplasia
Cone-shaped epiphyses of the phalanges of the hand, Hypoplasia of the radius, Cone-shaped epiphys... OMIM:607778
Ciliary Dyskinesia, Primary, 42
Chronic pulmonary obstruction, Respiratory insufficiency, Reduced forced vital capacity, Chronic ... OMIM:618695
Pneumocystosis
Chronic oral candidiasis, Hypoxemia, Multiple pulmonary cysts, Nonproductive cough, Respiratory i... ORPHA:723
Plin1-Related Familial Partial Lipodystrophy
Infertility, Hyperinsulinemia, Oligomenorrhea, Insulin-resistant diabetes mellitus at puberty, Ab... ORPHA:280356
Partington Syndrome
Facial telangiectasia, Macroorchidism ORPHA:94083
Premature Ovarian Failure 19
Irregular menstruation, Secondary amenorrhea, Female infertility, Premature ovarian insufficiency OMIM:619245
Fibromuscular Dysplasia, Arterial
Intermittent claudication, Stroke, Renovascular hypertension, Myocardial infarction, Aortic disse... OMIM:135580
Familial Male-Limited Precocious Puberty
Precocious puberty, Long penis, Macroorchidism, Oligospermia ORPHA:3000
Hypogonadotropic Hypogonadism 25 With Anosmia
Hypoplasia of the ovary, Decreased serum testosterone concentration, Micropenis, Hypothalamic gon... OMIM:618841
Rin2 Syndrome
Hypergonadotropic hypogonadism, Cryptorchidism, Premature ovarian insufficiency, Aortic aneurysm ORPHA:217335
Leydig Cell Hypoplasia
Abnormal external genitalia, Hypergonadotropic hypogonadism, Primary amenorrhea, Hyoplasia of the... ORPHA:755
Long Qt Syndrome 13
Torsade de pointes, Permanent atrial fibrillation, Palpitations, Pulmonary embolism, Syncope, Pro... OMIM:613485
Adrenocortical Carcinoma
Paradoxical increased cortisol secretion on dexamethasone suppression test, Adrenocorticotropic h... ORPHA:1501
Maternal Uniparental Disomy Of Chromosome 6
Hydrocele testis, Increased serum testosterone level, Congenital adrenal hyperplasia, Clitoral hy... ORPHA:96181
Ciliary Dyskinesia, Primary, 23
Recurrent otitis media, Respiratory insufficiency due to defective ciliary clearance, Chronic bro... OMIM:615451
Langer Mesomelic Dysplasia
Abnormal morphology of ulna, Aplasia/Hypoplasia of the fibula, Micromelia, Short femoral neck, Me... ORPHA:2632
Arms, Malformation Of
Hypoplasia of the radius, Hypoplasia of the ulna, Radioulnar synostosis OMIM:107900
Cd8 Deficiency, Familial
Recurrent viral infections, Recurrent bacterial infections, Recurrent respiratory infections OMIM:608957
Intellectual Developmental Disorder, X-Linked 2
Macroorchidism OMIM:300428
Carcinoma Of Esophagus
Obesity, Weight loss, Cough ORPHA:70482
Marfanoid Hypermobility Syndrome
Mitral regurgitation, Aortic regurgitation, Aortic aneurysm OMIM:154750
Immunodeficiency, Common Variable, 1
Neutropenia in presence of anti-neutropil antibodies, Splenomegaly, B lymphocytopenia, Recurrent ... OMIM:607594
Multicentric Reticulohistiocytosis
Histiocytosis, Cachexia, Arthritis ORPHA:139436
Aortic Valve Disease 2
Calcification of the aorta, Coarctation of aorta, Aortic aneurysm OMIM:614823
Weismann-Netter Syndrome
Abnormality of femur morphology, Tibial bowing, Abnormal morphology of ulna, Abnormal hip bone mo... ORPHA:3344
Fibular Aplasia Or Hypoplasia, Femoral Bowing And Poly-, Syn-, And Oligodactyly
Aplasia/Hypoplasia of the ulna, Hypoplasia of the radius, Femoral bowing, Congenital hip dislocat... OMIM:228930
Premature Ovarian Failure 15
Oligomenorrhea OMIM:618096
Osteosclerosis With Ichthyosis And Fractures
Femoral bowing, Tibial bowing, Cortical thickening of long bone diaphyses OMIM:166740
Immunodeficiency 52
Failure to thrive, Lymphopenia, Coombs-positive hemolytic anemia, Increased proportion of gamma-d... OMIM:617514
Ulnar Hypoplasia
Ulnar deviation of the hand, Radial bowing, Hypoplasia of the radius, Hypoplasia of the ulna, Rad... OMIM:191440
Immunodeficiency 50
Eczema, Lymphopenia, Recurrent respiratory infections, Neutropenia OMIM:300988
Hypogonadotropic Hypogonadism 16 With Or Without Anosmia
Decreased serum testosterone concentration, Micropenis, Decreased circulating follicle stimulatin... OMIM:614897
Isolated Follicle Stimulating Hormone Deficiency
Testicular atrophy, Decreased serum testosterone concentration, Bilateral breast hypoplasia, Hypo... ORPHA:52901
Premature Ovarian Failure 1
Increased circulating gonadotropin level, Irregular menstruation, Premature ovarian insufficiency OMIM:311360
Ovarian Dysgenesis 1
Increased circulating gonadotropin level, Primary amenorrhea, Gonadal dysgenesis OMIM:233300
Mental retardation, x-linked, syndromic, Turner type
Macroorchidism OMIM:300706
Isolated Agammaglobulinemia
Failure to thrive, Sinusitis, Skin rash, Otitis media, Abnormal lymphocyte morphology, Arthritis,... ORPHA:229717
Estrogen Resistance Syndrome
Hyperinsulinemia, Hypoplasia of the uterus, Absence of pubertal development, Primary amenorrhea, ... ORPHA:785
Ciliary Dyskinesia, Primary, 21
Recurrent otitis media, Ciliary dyskinesia, Chronic sinusitis, Recurrent pneumonia, Bronchiectasi... OMIM:615294
Cardiac Valvular Dysplasia 2
Tricuspid regurgitation, Pulmonic stenosis, Pulmonary insufficiency, Palpitations, Systolic heart... OMIM:620067
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency
Blind vagina, Decreased circulating cortisol level, Ovarian cyst, Primary amenorrhea, Abnormal re... ORPHA:90793
Tibial Aplasia-Ectrodactyly Syndrome
Aplasia/Hypoplasia of the ulna, Abnormality of femur morphology, Ectrodactyly, Aplasia/Hypoplasia... ORPHA:3329
Placental Site Trophoblastic Tumor
Amenorrhea, Metrorrhagia ORPHA:99928
Ciliary Dyskinesia, Primary, 27
Recurrent otitis media, Respiratory insufficiency due to defective ciliary clearance, Chronic bro... OMIM:615504
Ciliary Dyskinesia, Primary, 46
Reduced forced expiratory volume in one second, Reduced forced vital capacity, Recurrent sinusiti... OMIM:619436
Cryptogenic Organizing Pneumonia
Respiratory distress, Neutrophilia, Hypoxemia, Leukocytosis, Nonproductive cough, Crackles, Wheez... ORPHA:1302
Young Syndrome
Bronchiectasis, Recurrent bronchitis, Congenital pulmonary airway malformation, Recurrent sinopul... OMIM:279000
Ciliary Dyskinesia, Primary, 39
Chronic lung disease, Cough, Recurrent lower respiratory tract infections, Rhinorrhea, Recurrent ... OMIM:618254
Familial Thoracic Aortic Aneurysm And Aortic Dissection
Carotid artery dilatation, Peripheral arterial stenosis, Abnormal left ventricular function, Stro... ORPHA:91387
Acheiropody
Aplasia of the ulna, Absent hand, Short tibia, Lower limb peromelia, Carpal bone aplasia, Short h... OMIM:200500
Mccune-Albright Syndrome
Increased serum testosterone level, Precocious puberty, Elevated circulating growth hormone conce... ORPHA:562
Reticular Dysgenesis
Failure to thrive, Skin rash, Leukopenia, Chronic otitis media, Abnormality of neutrophils, Weigh... ORPHA:33355
Müllerian Aplasia And Hyperandrogenism
Abnormal vagina morphology, Hypoplasia of the uterus, Abnormality of the ovary, Increased serum t... ORPHA:247768
X-Linked Intellectual Disability, Van Esch Type
Type II diabetes mellitus, Decreased serum testosterone concentration, Cryptorchidism, Hypergonad... ORPHA:163976
46,Xy Sex Reversal 1
Sex reversal, Abnormality of male external genitalia, Elevated circulating luteinizing hormone le... OMIM:400044
Cardiomyopathy, Familial Hypertrophic, 15
Apical hypertrophic cardiomyopathy, Left ventricular outflow tract obstruction, Hyperdynamic left... OMIM:613255
Obesity Due To Congenital Leptin Deficiency
Hypoplasia of the ovary, Hyperinsulinemia, Decreased serum testosterone concentration, Orthostati... ORPHA:66628
Familial Cerebral Saccular Aneurysm
Cerebral berry aneurysm, Intracranial hemorrhage, Subarachnoid hemorrhage, Aortic dissection, Aor... ORPHA:231160
Multiple Epiphyseal Dysplasia With Robin Phenotype
Dislocated radial head, Coxa vara, Flat capital femoral epiphysis, Talipes equinovarus, Short fem... OMIM:601560
Periventricular Nodular Heterotopia
Aortic regurgitation, Patent ductus arteriosus, Aortic aneurysm ORPHA:98892
Premature Ovarian Failure 9
Amenorrhea, Increased circulating gonadotropin level, Premature ovarian insufficiency OMIM:615724
Delayed Puberty, Self-Limited
Decreased serum testosterone concentration, Hypogonadotropic hypogonadism, Decreased circulating ... OMIM:619613
Hereditary Pulmonary Alveolar Proteinosis
Respiratory distress, Crazy paving pattern, Crackles, Tachycardia, Acute infectious pneumonia, Ta... ORPHA:264675
Brachydactyly-Elbow Wrist Dysplasia Syndrome
Clinodactyly of the 5th finger, Abnormal morphology of ulna, Abnormality of the humerus, Brachyda... ORPHA:1275
Immunodeficiency 27A
Histiocytosis, Leukocytosis, Splenomegaly, Hepatosplenomegaly, Thrombocytosis, Abnormal bronchus ... OMIM:209950
Mounier-Kühn Syndrome
Bronchitis, Recurrent bronchopulmonary infections, Pneumonia, Recurrent respiratory infections ORPHA:3347
Immunodeficiency 13
Bronchiolitis obliterans organizing pneumonia, Lymphopenia, Recurrent upper respiratory tract inf... OMIM:615518
Ciliary Dyskinesia, Primary, 33
Cough, Chronic rhinitis, Recurrent lower respiratory tract infections, Recurrent bronchitis, Cili... OMIM:616726
Hereditary Thrombophilia Due To Congenital Antithrombin Deficiency
Pulmonary embolism ORPHA:82
Mantle Cell Lymphoma
Weight loss, Splenomegaly ORPHA:52416
Muscular Hypertonia, Lethal
Respiratory distress, Pneumonia OMIM:254120
Hemochromatosis, Type 2A
Amenorrhea, Infertility, Splenomegaly, Hypogonadotropic hypogonadism, Arrhythmia, Dilated cardiom... OMIM:602390
Fixed Subaortic Stenosis
Angina pectoris, Pulmonary venous hypertension, Left ventricular outflow tract obstruction, Systo... ORPHA:3092
Ciliary Dyskinesia, Primary, 3
Recurrent otitis media, Recurrent sinusitis, Ciliary dyskinesia, Bronchiectasis, Neonatal respira... OMIM:608644
Surfactant Metabolism Dysfunction, Pulmonary, 2
Respiratory distress, Absent bronchoalveolar surfactant-protein C, Desquamative interstitial pneu... OMIM:610913
Idiopathic Pulmonary Fibrosis
Pulmonary insufficiency, Crackles, Reticular pattern on pulmonary HRCT, Abnormal pulmonary inters... ORPHA:2032
Staphylococcal Necrotizing Pneumonia
Respiratory distress, Neutrophilia, Leukocytosis, Nonproductive cough, Pleural empyema, Leukopeni... ORPHA:36238
Spondyloepimetaphyseal Dysplasia, Missouri Type
Coxa vara, Tibial bowing, Metaphyseal cupping, Radial bowing, Flared iliac wing, Femoral bowing, ... OMIM:602111
Pulmonary Venoocclusive Disease 1, Autosomal Dominant
Interlobular septal thickening, Pulmonary venous occlusion, Pulmonary arterial hypertension, Abno... OMIM:265450
Obesity Due To Leptin Receptor Gene Deficiency
Hypoplasia of the ovary, Hyperinsulinemia, Decreased serum testosterone concentration, Orthostati... ORPHA:179494
Takayasu Arteritis
Hypertrophic cardiomyopathy, Cerebral ischemia, Vasculitis, Myocardial infarction, Vascular dilat... ORPHA:3287
Ovarian Dysgenesis 10
Hypoplasia of the ovary, Streak ovary, Elevated circulating luteinizing hormone level, Primary am... OMIM:619834
Mass Syndrome
Ascending aortic dissection, Aortic aneurysm OMIM:604308
Mucus Inspissation Of Respiratory Tract
Bronchiectasis, Chronic sinusitis, Chronic pulmonary obstruction, Recurrent respiratory infections OMIM:253240
Deafness-Lymphedema-Leukemia Syndrome
Bruising susceptibility, Splenomegaly, Leukocytosis, Myeloproliferative disorder, Intracranial he... ORPHA:3226
Agammaglobulinemia 7, Autosomal Recessive
Recurrent respiratory infections, Neutropenia OMIM:615214
Gray Platelet Syndrome
Abnormality of the menstrual cycle, Thrombocytopenia, Epistaxis, Splenomegaly ORPHA:721
Cholesterol Pneumonia
Pneumonia, Cough, Tachypnea OMIM:215030
Inflammatory Bowel Disease 11
Weight loss, Inflammation of the large intestine, Hematochezia OMIM:191390
Factor V Excess With Spontaneous Thrombosis
Pulmonary embolism OMIM:134400
Bronchiectasis With Or Without Elevated Sweat Chloride 3
Bronchiectasis, Chronic bronchitis OMIM:613071
Immunodeficiency 57 With Autoinflammation
Failure to thrive, Gastritis, Skin rash, Chronic lung disease, B lymphocytopenia, T lymphocytopen... OMIM:618108
Bronchiectasis With Or Without Elevated Sweat Chloride 2
Bronchiectasis, Chronic bronchitis OMIM:613021
Bronchiectasis With Or Without Elevated Sweat Chloride 1
Bronchiectasis, Chronic bronchitis OMIM:211400
Familial Dilated Cardiomyopathy
Failure to thrive, Left bundle branch block, Mitral regurgitation, Palpitations, Elevated pulmona... ORPHA:217607
Left Ventricular Noncompaction 10
Increased left ventricular end-diastolic volume, Syncope, Dilated cardiomyopathy, Pulmonary arter... OMIM:615396
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome
Stroke, Macroorchidism, Congestive heart failure ORPHA:3077
Hypogonadotropic Hypogonadism 23 With Or Without Anosmia
Decreased serum testosterone concentration, Testicular microlithiasis, Micropenis, Ovarian cyst, ... OMIM:228300
Cerebral Dysgenesis, Neuropathy, Ichthyosis, And Palmoplantar Keratoderma Syndrome
Aspiration pneumonia, Failure to thrive OMIM:609528
Spondylometaphyseal Dysplasia, Algerian Type
Coxa vara, Hypoplasia of proximal radius, Metaphyseal dysplasia, Short tubular bones of the hand,... OMIM:184253
Immunodeficiency 62
Bronchiectasis, Autoimmune thrombocytopenia OMIM:618459
Testicular Agenesis
Urogenital sinus anomaly, Hypoplasia of the uterus, Absent testis, Absent external genitalia, Abn... ORPHA:325124
Fibular Aplasia-Complex Brachydactyly Syndrome
Abnormal morphology of ulna, Abnormal hip bone morphology, Aplasia/Hypoplasia of the fibula, Brac... ORPHA:2639
Ciliary Dyskinesia, Primary, 7
Reduced FEV1/FVC ratio, Cough, Chronic rhinitis, Ciliary dyskinesia, Recurrent pneumonia, Restric... OMIM:611884
Premature Ovarian Failure 5
Hypoplasia of the ovary, Streak ovary, Reduced antral follicle count, Primary amenorrhea, Seconda... OMIM:611548
Hypogonadotropic Hypogonadism 13 With Or Without Anosmia
Hypoplasia of the uterus, Hypogonadotropic hypogonadism, Decreased circulating follicle stimulati... OMIM:614842
Polycystic Ovary Syndrome 1
Amenorrhea, Oligomenorrhea, Enlarged polycystic ovaries OMIM:184700
Rigid Spine Syndrome
Respiratory insufficiency, Abnormality on pulmonary function testing, Cardiac conduction abnormal... ORPHA:97244
Felty Syndrome
Sinusitis, Splenomegaly, Anemia, Chronic otitis media, Abnormal lymphocyte morphology, Thrombocyt... ORPHA:47612
Aortic Aneurysm, Familial Thoracic 12
Ascending tubular aorta aneurysm, Aortic regurgitation, Ascending aortic dissection, Aortic root ... OMIM:619825
Pituicytoma
Abnormality of the pituitary gland, Amenorrhea, Impotence, Decreased serum testosterone concentra... ORPHA:251623
46,Xy Disorder Of Sex Development Due To Isolated 17,20-Lyase Deficiency
Decreased circulating androgen concentration, Decreased fertility in males, Hypergonadotropic hyp... ORPHA:90796
Ciliary Dyskinesia, Primary, 28
Recurrent otitis media, Respiratory insufficiency due to defective ciliary clearance, Chronic bro... OMIM:615505
Diethylstilbestrol Syndrome
Hypoplasia of the uterus, Cryptorchidism, Micropenis, Hypospadias, Decreased fertility in females... ORPHA:1916
Uterine Anomalies
Abnormality of the uterus, Bicornuate uterus OMIM:192000
Premature Ovarian Failure 8
Ovarian neoplasm, Streak ovary, Elevated circulating luteinizing hormone level, Primary amenorrhe... OMIM:615723
Lymphoid Interstitial Pneumonia
Failure to thrive, Pulmonary venous hypertension, Subpleural interstitial thickening, Hypoxemia, ... ORPHA:79128
Normosmic Congenital Hypogonadotropic Hypogonadism
Increased female libido, Hypoplasia of the ovary, Decreased serum testosterone concentration, Imp... ORPHA:432
Rabson-Mendenhall Syndrome
Increased serum testosterone level, Precocious puberty, Diabetic ketoacidosis, Long penis, Hypoth... ORPHA:769
Congenital Disorder Of Glycosylation, Type Iic
Periodontitis, Neutrophilia, Bronchiolitis, Pneumonia, Recurrent otitis media, Reduction of neutr... OMIM:266265
X-Linked Intellectual Disability-Acromegaly-Hyperactivity Syndrome
Elevated circulating growth hormone concentration, Decreased serum insulin-like growth factor 1, ... ORPHA:85327
Cortisone Reductase Deficiency 1
Infertility, Oligomenorrhea, Precocious puberty OMIM:604931
Ciliary Dyskinesia, Primary, 32
Ciliary dyskinesia, Bronchiectasis, Neonatal respiratory distress, Immotile cilia, Recurrent resp... OMIM:616481
Loeffler Endocarditis
Aortic valve stenosis, Restrictive cardiomyopathy, Mitral regurgitation, Palpitations, Eosinophil... ORPHA:75566
Thrombocytopenia 5
Petechiae, Bruising susceptibility, Neutropenia, Anemia, Thrombocytopenia, Epistaxis OMIM:616216
Diffuse Alveolar Hemorrhage
Airway obstruction, Pulmonary venous hypertension, Increased DLCO, Irregular septal thickening on... ORPHA:90060
Rhizomelic Dysplasia, Patterson-Lowry Type
Coxa vara, Deformed humeral heads, Short humerus, Brachydactyly, Deviation of finger, Genu valgum... ORPHA:2831
Caspase 8 Deficiency
Asthma, Failure to thrive, Splenomegaly, Eczema, Pneumonia, Recurrent sinopulmonary infections, D... OMIM:607271
Mullerian Aplasia And Hyperandrogenism
Amenorrhea, Abnormality of the endocrine system, Aplasia/Hypoplasia of the fallopian tube, Aplasi... OMIM:158330
Acute Promyelocytic Leukemia
Petechiae, Neutropenia, Bruising susceptibility, Leukocytosis, Abnormal bleeding, Leukopenia, Ora... ORPHA:520
Ciliary Dyskinesia, Primary, 36, X-Linked
Cough, Recurrent sinusitis, Neonatal respiratory distress, Bronchiectasis, Recurrent respiratory ... OMIM:300991
Severe Combined Immunodeficiency, X-Linked
Failure to thrive, Chronic oral candidiasis, Skin rash, Hypoplasia of the thymus, T lymphocytopen... OMIM:300400
Combined Immunodeficiency Due To Dock8 Deficiency
Asthma, Recurrent bacterial skin infections, Atopic dermatitis, Chronic otitis media, B lymphocyt... ORPHA:217390
Post-Traumatic Pituitary Deficiency
Amenorrhea, Infertility, Abnormal prolactin level, Decreased response to growth hormone stimulati... ORPHA:95619
Chromosome Xq27.3-Q28 Duplication Syndrome
Decreased serum testosterone concentration, Cryptorchidism, Decreased testicular size, Hypogonadi... OMIM:300869
46,Xx Gonadal Dysgenesis
Streak ovary, Primary amenorrhea, Gonadal dysgenesis, Aplasia/hypoplasia of the uterus, Secondary... ORPHA:243
Spermatogenic Failure, X-Linked, 4
Decreased serum testosterone concentration, Abnormal prolactin level, Elevated circulating lutein... OMIM:301077
46,Xy Sex Reversal 7
Sex reversal, Gonadal dysgenesis, male, Hypoplasia of the uterus, Streak ovary, Primary amenorrhe... OMIM:233420
Seckel Syndrome 7
Hypoplasia of the uterus, Primary amenorrhea, Central hypothyroidism OMIM:614851
Ciliary Dyskinesia, Primary, 41
Recurrent sinusitis, Impaired nasal mucociliary clearance, Recurrent otitis media, Bronchiectasis OMIM:618449
Satoyoshi Syndrome
Amenorrhea, Nephrogenic diabetes insipidus, Hypoplasia of the uterus, Hypoplasia of the ovary, Ab... ORPHA:3130
Idiopathic Chronic Eosinophilic Pneumonia
Asthma, Leukocytosis, Nonproductive cough, Atopic dermatitis, Crackles, Wheezing, Hypereosinophil... ORPHA:2902
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia
Recurrent otitis media, Neutropenia, Lymphopenia, Chronic pulmonary obstruction, Chronic bronchit... OMIM:618986
Facioscapulohumeral Muscular Dystrophy 3, Digenic
Aspiration pneumonia OMIM:619477
Hypogonadotropic Hypogonadism 24 With Or Without Anosmia
Infertility, Elevated circulating luteinizing hormone level, Primary amenorrhea, Decreased circul... OMIM:229070
Tibia, Hypoplasia Or Aplasia Of, With Polydactyly
Preaxial polydactyly, Short tibia, Triphalangeal thumb, Fibular duplication, Absent tibia OMIM:188740
Ehlers-Danlos Syndrome, Autosomal Dominant, Type Unspecified
Aortic aneurysm, Aortic dissection, Mucoid extracellular matrix accumulation OMIM:130090
Fragile X Syndrome
Ascending tubular aorta aneurysm, Macroorchidism ORPHA:908
X-Linked Intellectual Disability, Cilliers Type
Decreased serum testosterone concentration, Cryptorchidism, Hypergonadotropic hypogonadism, Hypos... ORPHA:163971
Metaphyseal Acroscyphodysplasia
Cone-shaped metacarpal epiphyses, Cone-shaped epiphyses of the phalanges of the hand, Short toe, ... OMIM:250215
Neutrophilia, Hereditary
Hepatosplenomegaly, Neutrophilia OMIM:162830
Spastic Paraplegia-Precocious Puberty Syndrome
Hyperplasia of the Leydig cells, Precocious puberty in males ORPHA:2826
Pulmonary Alveolar Proteinosis, Acquired
Brain abscess, Intraalveolar phospholipid accumulation, Decreased DLCO, Cough, Pneumonia, Restric... OMIM:610910
Hypogonadotropic Hypogonadism 22 With Or Without Anosmia
Micropenis, Primary amenorrhea, Decreased testicular size, Hypogonadism, Cryptorchidism OMIM:616030
Ciliary Dyskinesia, Primary, 11
Chronic bronchitis, Chronic rhinitis, Recurrent sinusitis, Ciliary dyskinesia, Neonatal respirato... OMIM:612649
Thrombophilia Due To Protein C Deficiency, Autosomal Recessive
Purpura, Vitreous hemorrhage, Pulmonary embolism OMIM:612304
Pulmonary Non-Tuberculous Mycobacterial Infection
Respiratory distress, Chronic pulmonary obstruction, Crackles, Cough, Pneumothorax, Pleural effus... ORPHA:411703
49,Xxxyy Syndrome
Abnormality of the testis size, Decreased serum testosterone concentration, External genital hypo... ORPHA:261534
Multiple Mitochondrial Dysfunctions Syndrome 1
Failure to thrive, Respiratory insufficiency, Hypertension, Pulmonary arterial hypertension, Resp... OMIM:605711
Ciliary Dyskinesia, Primary, 16
Pulmonary insufficiency, Chronic otitis media, Chronic rhinitis, Ciliary dyskinesia, Chronic sinu... OMIM:614017
Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor
Metaphyseal irregularity, Tibial bowing, Delayed epiphyseal ossification, Femoral bowing, Fibular... OMIM:600785
Interstitial Lung Disease 2
Alveolar cell carcinoma, Usual interstitial pneumonia, Decreased DLCO, Cough, Exertional dyspnea,... OMIM:178500
Thrombophilia Due To Protein S Deficiency, Autosomal Dominant
Purpura, Pulmonary embolism OMIM:612336
Interstitial Lung Disease 1
Interlobular septal thickening, Crackles, Decreased DLCO, Cough, Elevated bronchoalveolar lavage ... OMIM:619611
Pulmonary Arteriovenous Malformation
Telangiectasia, Bacterial endocarditis, Hemothorax, Abnormal bleeding, Pulmonary hemorrhage, Palp... ORPHA:2038
Renal Hypodysplasia/Aplasia 1
Vaginal atresia, Hypertension, Primary amenorrhea, Bicornuate uterus OMIM:191830
Fibular Aplasia, Tibial Campomelia, And Oligosyndactyly Syndrome
Tibial bowing, Hand oligodactyly, Short tibia, Syndactyly, Foot oligodactyly, Fibular aplasia OMIM:246570
Infant Acute Respiratory Distress Syndrome
Cardiac arrest, Pulmonary edema, Tachycardia, Hypotension, Tachypnea, Pneumonia, Respiratory trac... ORPHA:70587
Brachydactyly-Ectrodactyly With Fibular Aplasia Or Hypoplasia
Split foot, Aplasia/Hypoplasia of the fibula, Brachydactyly, Short phalanx of finger, Fibular apl... OMIM:113310
Spondyloepimetaphyseal Dysplasia, Borochowitz-Cormier-Daire Type
Bowing of the legs, Metaphyseal spurs, Dysplastic iliac wing, Narrow greater sciatic notch, Femor... OMIM:608728
Igg4-Related Aortitis
Thoracic aortic aneurysm, Abnormal common carotid artery morphology, Abnormal aortic arch morphol... ORPHA:449400
Aspergillosis
Keratitis, Abnormality on pulmonary function testing, Rhinorrhea, Pneumonia, Osteomyelitis, Chron... ORPHA:1163
Immunodeficiency 78 With Autoimmunity And Developmental Delay
Neutropenia in presence of anti-neutropil antibodies, Fluctuating splenomegaly, Autoimmune thromb... OMIM:619220
Léri-Weill Dyschondrosteosis
Abnormality of femur morphology, Hypoplasia of the radius, Cone-shaped epiphysis, Micromelia, Abn... ORPHA:240
Hypogonadotropic Hypogonadism 1 With Or Without Anosmia
Testicular atrophy, Decreased serum testosterone concentration, Leydig cell insensitivity to gona... OMIM:308700
Immunodeficiency, Common Variable, 12, With Autoimmunity
Chronic pulmonary obstruction, Recurrent sinopulmonary infections, Recurrent skin infections, Atr... OMIM:616576
Cyclic Neutropenia
Cyclic neutropenia, Neutropenia OMIM:162800
Refractory Anemia
Anemia of inadequate production, Abnormal bleeding, Normocytic anemia, Macrocytic anemia, Erythro... ORPHA:98826
Weismann-Netter Syndrome
Lateral femoral bowing, Anterior tibial bowing, Fibular bowing, Squared iliac bones OMIM:112350
Immunodeficiency 75
Bronchiectasis, Hepatosplenomegaly, Decreased proportion of class-switched memory B cells, Recurr... OMIM:619126
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta
Lymphopenia, Chronic oral candidiasis, Otitis media, Eosinophilia, Hepatosplenomegaly, Hepatitis,... ORPHA:169160
Insulin-Resistance Syndrome Type B
Increased serum testosterone level, Hyperinsulinemia, Type II diabetes mellitus, Hyperinsulinemic... ORPHA:2298
Testicular Regression Syndrome
Abnormal male internal genitalia morphology, Absent testis, Hypoplasia of penis, Male pseudoherma... ORPHA:983
Immunodeficiency 46
Failure to thrive, Chronic oral candidiasis, Intermittent thrombocytopenia, Neutropenia, Anemia, ... OMIM:616740
Alpha-1-Antitrypsin Deficiency
Panacinar emphysema, Chronic pulmonary obstruction, Chronic bronchitis, Splenomegaly, Wheezing, C... OMIM:613490
Androgen Insensitivity Syndrome
Ambiguous genitalia, male, Male pseudohermaphroditism, Aplasia/hypoplasia of the uterus, Testicul... ORPHA:754
Prolactin Deficiency, Isolated
Infertility, Irregular menstruation, Reduced circulating prolactin concentration OMIM:264110
Bdv Syndrome
Decreased thyroid-stimulating hormone level, Reduced TSH response to thyrotrophin-releasing hormo... OMIM:619326
Congenital Aortic Valve Stenosis
Angina pectoris, Abnormal left ventricular function, Abnormal T-wave, Aortic valve stenosis, Abno... ORPHA:3093
Lipodystrophy, Familial Partial, Type 3
Hyperinsulinemia, Type II diabetes mellitus, Primary amenorrhea, Maternal diabetes, Oligomenorrhe... OMIM:604367
Polycythemia Vera
Angina pectoris, Intermittent claudication, Budd-Chiari syndrome, Bruising susceptibility, Spleno... ORPHA:729
Hyper-Ige Recurrent Infection Syndrome 2, Autosomal Recessive
Asthma, Eosinophilic infiltration of the esophagus, Cerebral vasculitis, Eosinophilia, Eczema, Su... OMIM:243700
Immunodeficiency 14B, Autosomal Recessive
Colitis, Neutrophilia, Leukocytosis, Monocytosis, B lymphocytopenia, Inflammation of the large in... OMIM:619281
Systemic Capillary Leak Syndrome
Pancreatitis, Pulmonary edema, Leukocytosis, Arrhythmia, Hypotension, Myocarditis, Cough, Weight ... ORPHA:188
Intellectual Developmental Disorder, X-Linked, Syndromic 11
Macroorchidism OMIM:300238
Mayer-Rokitansky-Kuster-Hauser Syndrome
Amenorrhea, Aplasia of the vagina, Hypoplasia of the uterus OMIM:277000
Hyper-Ige Recurrent Infection Syndrome 3, Autosomal Recessive
Recurrent skin infections, Eosinophilia, Eczema, Atopic dermatitis, Chronic mucocutaneous candidi... OMIM:618282
Common Variable Immunodeficiency
Lymphopenia, Splenomegaly, Otitis media, Autoimmune thrombocytopenia, Chronic otitis media, Vascu... ORPHA:1572
Premature Ovarian Failure 10
Hypoplasia of the ovary, Elevated circulating luteinizing hormone level, Primary amenorrhea, Hypo... OMIM:612885
Drug Reaction With Eosinophilia And Systemic Symptoms
Lymphocytosis, Pustule, Skin rash, Interstitial pneumonitis, Eosinophilia, Myocarditis, Cough, He... ORPHA:139402
Aortic Aneurysm, Familial Thoracic 10
Mitral regurgitation, Abdominal aortic aneurysm, Aortic arch aneurysm, Aortic root aneurysm, Coro... OMIM:617168
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2
Chronic bronchitis, Pneumonia OMIM:614069
Vaginal Atresia
Bicornuate uterus, Imperforate hymen, Uterus didelphys, Primary amenorrhea, Cervicitis, Transvers... ORPHA:65681
Langer Mesomelic Dysplasia
Radial bowing, Hypoplasia of the radius, Broad ulna, Short tibia, Rudimentary fibula, Short femor... OMIM:249700
Megalencephaly
Macroorchidism, Long penis ORPHA:2477
Ciliary Dyskinesia, Primary, 29
Bronchiectasis, Decreased nasal nitric oxide, Ciliary dyskinesia, Recurrent respiratory infections OMIM:615872
Androgen Insensitivity Syndrome
Labial hypoplasia, Blind vagina, Elevated circulating luteinizing hormone level, Primary amenorrh... OMIM:300068
Tularemia
Respiratory distress, Cutaneous abscess, Conjunctivitis, Leukocytosis, Otitis media, Skin rash, T... ORPHA:3392
Ciliary Dyskinesia, Primary, 26
Recurrent otitis media, Respiratory insufficiency due to defective ciliary clearance, Chronic bro... OMIM:615500
Ciliary Dyskinesia, Primary, 20
Respiratory insufficiency due to defective ciliary clearance, Cough, Recurrent sinusitis, Ciliary... OMIM:615067
Perrault Syndrome 2
Amenorrhea, Streak ovary OMIM:614926
Immunodeficiency, Common Variable, 8, With Autoimmunity
B lymphocytopenia, Uveitis, Pneumonia, Pancytopenia, Colitis, Splenomegaly, Chronic lung disease,... OMIM:614700
Immunodeficiency 14A, Autosomal Dominant
Splenomegaly, T lymphocytopenia, Decreased proportion of class-switched memory B cells, Bronchiec... OMIM:615513
Alpha-Thalassemia-Myelodysplastic Syndrome
Bruising susceptibility, Splenomegaly, Abnormal bleeding, Microcytic anemia, Neutropenia, HbH hem... ORPHA:231401
Microlissencephaly
Pneumonia ORPHA:1083
Tracheobronchomegaly
Bronchiectasis, Recurrent bronchopulmonary infections OMIM:275300
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Failure to thrive, Splenomegaly, Extramedullary hematopoiesis, Leukopenia, Neutropenia, Anemia, T... OMIM:615285
46,Xy Partial Gonadal Dysgenesis
Streak ovary, Hypergonadotropic hypogonadism, Ambiguous genitalia, Clitoral hypertrophy, Abnormal... ORPHA:251510
T-Cell Immunodeficiency With Thymic Aplasia
Failure to thrive, Eczematoid dermatitis, Lymphopenia, Recurrent bronchopulmonary infections, Apl... OMIM:242700
Sarcoidosis, Susceptibility To, 2
Elevated bronchoalveolar lavage fluid lymphocyte proportion, Hypoxemia, Splenomegaly, Abnormal pu... OMIM:612387
Humerofemoral Hypoplasia With Radiotibial Ray Deficiency
Short clavicles, Absent thumb, Bilateral talipes equinovarus, Hypoplastic pelvis, Hypoplastic sca... OMIM:618022
X-Linked Agammaglobulinemia
Failure to thrive, Sinusitis, Osteomyelitis, Skin rash, Chronic otitis media, Arthritis, Hepatiti... ORPHA:47
Hypogonadotropic Hypogonadism 15 With Or Without Anosmia
Small pituitary gland, Micropenis, Primary amenorrhea, Decreased testicular size, Cryptorchidism OMIM:614880
Combined Oxidative Phosphorylation Deficiency 51
Aspiration pneumonia, Small for gestational age, Respiratory failure, Neonatal respiratory distress OMIM:619057
Chondrodysplasia, Lethal, With Long Bone Angulation And Mixed Bone Density
Short femur, Hypoplasia of the radius, Short tibia, Lytic defects of humeral diaphysis, Hypoplasi... OMIM:601376
Phace Association
Anomalous branches of internal carotid artery, Congenital hypothyroidism, Coarctation of aorta, P... OMIM:606519
Frasier Syndrome
Ambiguous genitalia, male, Gonadal dysgenesis with female appearance, male, Streak ovary, Hypergo... ORPHA:347
Premature Ovarian Failure 11
Oligomenorrhea, Secondary amenorrhea, Elevated circulating follicle stimulating hormone level OMIM:616946
Hodgkin Lymphoma
Dyspnea, Weight loss, Splenomegaly, Cough ORPHA:98293
Omodysplasia 2
Dislocated radial head, Short 1st metacarpal, Short humerus, Rhizomelic arm shortening, Hypoplast... OMIM:164745
Adult Acute Respiratory Distress Syndrome
Abnormal blood gas level, Pancreatitis, Pulmonary edema, Vasculitis, Hypotension, Shock, Pneumoni... ORPHA:70578
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome
Chronic oral candidiasis, Splenomegaly, Abscess, B lymphocytopenia, Intermittent thrombocytopenia... OMIM:150550
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy
Metaphyseal irregularity, Tibial bowing, Metaphyseal cupping, Coxa vara, Narrow greater sciatic n... OMIM:608940
Imerslund-Gräsbeck Syndrome
Megaloblastic anemia, Failure to thrive, Neutropenia, Abnormal bleeding, Tachycardia, Anisopoikil... ORPHA:35858
Acute Lung Injury
Respiratory distress, Abnormal pulmonary interstitial morphology, Tachypnea, Acute pancreatitis, ... ORPHA:178320
Temtamy Syndrome
Aortic aneurysm ORPHA:1777
Ciliary Dyskinesia, Primary, 25
Sinusitis, Chronic pulmonary obstruction, Recurrent sinusitis, Ciliary dyskinesia, Bronchiectasis... OMIM:615482
Cardiomyopathy-Cataract-Hip Spine Disease Syndrome
Osteoarthritis, Pulmonary embolism, Arrhythmia, Hypertension, Hypertrophic cardiomyopathy, Conges... ORPHA:1345
Hemochromatosis, Type 3
Amenorrhea, Impotence, Lymphopenia, Hypogonadotropic hypogonadism, Neutropenia, Anemia, Cardiomyo... OMIM:604250
Eosinophilic Gastroenteritis
Asthma, Leukocytosis, Eosinophilia, Atopic dermatitis, Hematochezia, Allergic rhinitis, Weight lo... ORPHA:2070
Immunodeficiency 102
Neutropenia in presence of anti-neutropil antibodies, Increased proportion of CD8-positive, alpha... OMIM:301082
Facial Dysmorphism, Immunodeficiency, Livedo, And Short Stature
Bronchiectasis, Telangiectases of the cheeks, Recurrent upper respiratory tract infections, Recur... OMIM:615139
Ciliary Dyskinesia, Primary, 5
Recurrent otitis media, Respiratory insufficiency due to defective ciliary clearance, Chronic bro... OMIM:608647
Tracheobronchopathia Osteochondroplastica
Respiratory insufficiency, Wheezing, Bronchitis, Upper airway obstruction, Pneumonia, Recurrent p... ORPHA:3348
Omenn Syndrome
Failure to thrive, Splenomegaly, Eosinophilia, Hypoplasia of the thymus, Severe B lymphocytopenia... OMIM:603554
Growth Hormone Insensitivity Syndrome With Immune Dysregulation 1, Autosomal Recessive
Respiratory distress, Failure to thrive, Lymphocytic interstitial pneumonia OMIM:245590
Laryngeal Neuroendocrine Tumor
Exertional dyspnea, Weight loss ORPHA:100083
Thrombophilia Due To Protein S Deficiency, Autosomal Recessive
Purpura, Pulmonary embolism, Cerebral hemorrhage OMIM:614514
17Q11.2 Microduplication Syndrome
Macroorchidism