Gene Summary

Name:
biogenesis of lysosomal organelles complex-1, subunit 6, pallidin
Synonyms:
BLOC-1,  BLOC-1 subunit,  Pldn

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 coat/hair pigmentation Bloc1s6em1(IMPC)Mbp HOM Early adult 5.72×10-15
increased circulating serum albumin level Bloc1s6em1(IMPC)Mbp HOM Early adult 1.14×10-05
abnormal lymph node morphology Bloc1s6em1(IMPC)Mbp HOM Early adult 0.00
abnormal spleen morphology Bloc1s6em1(IMPC)Mbp HOM Early adult 0.00
enlarged spleen Bloc1s6em1(IMPC)Mbp HOM Early adult 0.00
abnormal heart morphology Bloc1s6em1(IMPC)Mbp HOM Early adult 0.00
enlarged heart Bloc1s6em1(IMPC)Mbp HOM Early adult 0.00
abnormal skin morphology Bloc1s6em1(IMPC)Mbp HOM Early adult 0.00
abnormal eye morphology Bloc1s6em1(IMPC)Mbp HOM Early adult 0.00

Download data as:  TSV  XLS

Select physiological systems to view:
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Viewing: all phenotypes

lacZ Expression

Expression data not available

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

X-ray

XRay Images Whole Body Lateral Orientation

10 Images

X-ray

XRay Images Whole Body Dorso Ventral

30 Images

Human diseases caused by Bloc1s6 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 Bloc1s6 by orthology or direct annotation.

Disease Similarity of
phenotypes
Matching phenotypes Source
Hermansky-Pudlak Syndrome 9
Ocular albinism, Recurrent skin infections, Hypopigmentation of the skin, Leukopenia, Abnormal pl... OMIM:614171

The table below shows human diseases predicted to be associated to Bloc1s6 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Graying Of Hair, Precocious
Premature graying of hair OMIM:139100
Griscelli Syndrome, Type 3
Silver-gray hair, Large clumps of pigment irregularly distributed along hair shaft, White eyelashes OMIM:609227
Loose Anagen Hair Syndrome
Loose anagen hair, Fair hair, Sparse hair OMIM:600628
Griscelli Syndrome Type 3
Partial albinism, Hypopigmentation of hair, Iris hypopigmentation ORPHA:79478
Albinism-Microcephaly-Digital Anomalies Syndrome
Albinism OMIM:203340
Dyschromatosis Universalis Hereditaria 1
Hyperpigmented/hypopigmented macules OMIM:127500
Dowling-Degos Disease 3
Hyperpigmented/hypopigmented macules OMIM:615674
Dyschromatosis Symmetrica Hereditaria
Hyperpigmented/hypopigmented macules OMIM:127400
Albinism, Oculocutaneous, Type Iii
Partial albinism, Albinism, Red hair OMIM:203290
Griscelli Syndrome, Type 1
Melanin pigment aggregation in hair shafts, Hypopigmentation of the skin, Silver-gray hair, White... OMIM:214450
Dilution, Pigmentary
Hypopigmentation of the skin, Iris hypopigmentation, Hypopigmentation of hair OMIM:126070
Tietz Syndrome
Hypopigmentation of the skin, White eyebrow, Hypopigmentation of hair, Abnormality of skin pigmen... ORPHA:42665
Mediosternal Depigmentation Line
Mediosternal, longitudinal streak of hypopigmentation OMIM:155200
Neurofibromatosis Type 6
Multiple cafe-au-lait spots, Freckling ORPHA:2678
Raindrop Hypopigmentation
Hypopigmentation of the skin OMIM:179500
Acroleukopathy, Symmetric
Symmetric great toe depigmentation OMIM:102000
Hyperpigmentation Of Fuldauer And Kuijpers
Hyperpigmentation of the skin OMIM:145200
Hyperpigmentation, Familial Progressive, 1
Hyperpigmentation of the skin OMIM:614233
Nasal Hyperpigmentation, Familial Transverse
Hyperpigmentation of the skin OMIM:161530
Waardenburg Syndrome, Type 2B
White forelock, Premature graying of hair, Heterochromia iridis OMIM:600193
Hermansky-Pudlak Syndrome 6
Absent foveal reflex, Ocular albinism, Bruising susceptibility, Hypopigmentation of the skin, Abn... OMIM:614075
Hepatic Venoocclusive Disease With Immunodeficiency
Abnormality of the liver, Endocardial fibrosis, Absence of lymph node germinal center OMIM:235550
Hermansky-Pudlak Syndrome 2
Generalized hypopigmentation, Impaired ADP-induced platelet aggregation, Prolonged bleeding time,... OMIM:608233
Hermansky-Pudlak Syndrome 4
Ocular albinism, Bruising susceptibility, Abnormal bleeding, Epistaxis, Menorrhagia, Hypoplasia o... OMIM:614073
Waardenburg Syndrome, Type 2F
Hypermelanotic macule, Blue irides, Hypopigmentation of the skin, Heterochromia iridis, Cafe-au-l... OMIM:619947
Uncombable Hair Syndrome
Woolly hair, Patchy alopecia, Coarse hair, Trichodysplasia, Abnormal hair morphology, White hair ORPHA:1410
Glanzmann Thrombasthenia 1
Impaired collagen-induced platelet aggregation, Impaired ristocetin-induced platelet aggregation,... OMIM:273800
Hypocomplementemic Urticarial Vasculitis
Airway obstruction, Ataxia, Hematuria, Uveitis, Proteinuria, Inflammatory abnormality of the eye,... ORPHA:36412
Hermansky-Pudlak Syndrome 1
Colitis, Ocular albinism, Bruising susceptibility, Hypopigmentation of the skin, Hypopigmentation... OMIM:203300
Hermansky-Pudlak Syndrome 11
Impaired collagen-induced platelet aggregation, Fair hair, Ocular albinism, Bruising susceptibili... OMIM:619172
Glanzmann Thrombasthenia 2
Impaired collagen-induced platelet aggregation, Impaired ristocetin-induced platelet aggregation,... OMIM:619267
Hermansky-Pudlak Syndrome 5
Ocular albinism, Bruising susceptibility, Menorrhagia, Hypoplasia of the fovea, Albinism, Impaire... OMIM:614074
Ataxia-Pancytopenia Syndrome
Hypoplastic anemia, Ataxia, Acute myelomonocytic leukemia, Splenomegaly, Abnormal platelet functi... ORPHA:2585
Albinism, Oculocutaneous, Type Ib
Hypopigmentation of the skin, Albinism, Hypopigmentation of hair OMIM:606952
Macrothrombocytopenia And Granulocyte Inclusions With Or Without Nephritis Or Sensorineural Hearing Loss
Sensorineural hearing impairment, Impaired epinephrine-induced platelet aggregation, Neutrophil i... OMIM:155100
Chediak-Higashi Syndrome
Ataxia, Hemophagocytosis, Tremor, Splenomegaly, Abnormal dense granules, Spontaneous, recurrent e... OMIM:214500
Primary Immunodeficiency Syndrome Due To Lamtor2 Deficiency
Partial albinism, Hypopigmentation of hair ORPHA:90023
Netherton Syndrome
Sparse scalp hair, Asthma, Irregular hyperpigmentation, Aminoaciduria, Skin rash, Sparse eyebrow,... ORPHA:634
Epidermolysis Bullosa Simplex 6, Generalized, With Scarring And Hair Loss
Alopecia, Hypopigmentation of the skin, Sparse body hair, Onychogryposis of toenails, Dystrophic ... OMIM:617294
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Colitis, Low-frequency sensorineural hearing impairment, Hemophagocytosis, Splenomegaly, Abnormal... OMIM:613101
Hermansky-Pudlak Syndrome 3
Bruising susceptibility, Hypopigmentation of the skin, Abnormal bleeding, Hypopigmentation of hai... OMIM:614072
Ermine Phenotype
Spotty hyperpigmentation, Albinism, White eyelashes, Vitiligo, White eyebrow, White hair OMIM:227010
Hermansky-Pudlak Syndrome 9
Ocular albinism, Recurrent skin infections, Hypopigmentation of the skin, Leukopenia, Abnormal pl... OMIM:614171
Thrombocytopenia 7
Impaired collagen-induced platelet aggregation, Impaired ristocetin-induced platelet aggregation,... OMIM:619130
Free Sialic Acid Storage Disease
Ataxia, Nephrotic syndrome, Splenomegaly, Hydrops fetalis, Abnormal pyramidal sign, Athetosis, Ga... ORPHA:834
Hermansky-Pudlak Syndrome 7
Ocular albinism, Bruising susceptibility, Abnormal bleeding, Albinism, Impaired platelet aggregat... OMIM:614076
Idiopathic Bronchiectasis
Reduced FEV1/FVC ratio, Cachexia, Crackles, Acute infectious pneumonia, Wheezing, Recurrent lower... ORPHA:60033
Fetal Cytomegalovirus Syndrome
Anemia, Hepatomegaly, Splenomegaly ORPHA:294
Hermansky-Pudlak Syndrome
Abnormality of thrombocytes, Ocular albinism, Bruising susceptibility, Hypopigmentation of the sk... ORPHA:79430
Autoimmune Lymphoproliferative Syndrome, Type Iii
Absent isohemagglutinin level, Alopecia, Increased proportion autoreactive unresponsive CD21-/low... OMIM:615559
Allergic Bronchopulmonary Aspergillosis
Asthma, Abnormal eosinophil morphology, Respiratory insufficiency, Cough, Abnormal fingernail mor... ORPHA:1164
+173470 integrin, beta-3
Decreased platelet glycoprotein IIb-IIIa, Neonatal alloimmune thrombocytopenia, Bruising suscepti... OMIM:173470
Waardenburg Syndrome, Type 4B
Blue irides, White eyebrow, White eyelashes, Heterochromia iridis, White forelock, Premature gray... OMIM:613265
Vici Syndrome
Sensorineural hearing impairment, Failure to thrive, Decreased circulating IgG level, Ocular albi... OMIM:242840
Hermansky-Pudlak Syndrome 10
Apnea, Ocular albinism, Splenomegaly, Macrotia, Abnormal pulmonary interstitial morphology, Albin... OMIM:617050
Bronchopulmonary Dysplasia
Respiratory distress, Pulmonary sequestration, Hyperoxemia, Small for gestational age, Abnormal r... ORPHA:70589
Severe Combined Immunodeficiency, X-Linked
Failure to thrive, Decreased circulating IgA level, Decreased circulating IgG level, Chronic oral... OMIM:300400
Hermansky-Pudlak Syndrome 8
Ocular albinism, Bruising susceptibility, Abnormal bleeding, Menorrhagia, Hypoplasia of the fovea... OMIM:614077
Albinism, Oculocutaneous, Type Iv
Albinism, Hypopigmentation of hair, Blue irides OMIM:606574
Osteopathia Striata-Pigmentary Dermopathy-White Forelock Syndrome
White forelock, Macular hyperpigmented dermopathy ORPHA:2779
Platelet Signal Processing Defect
Impaired collagen-induced platelet aggregation, Impaired epinephrine-induced platelet aggregation... OMIM:173590
Mogs-Cdg
Respiratory distress, Apnea, Alopecia, Optic atrophy, Long eyelashes, Generalized edema, Absent b... ORPHA:79330
3-Methylglutaconic Aciduria Type 4
Failure to thrive, Iris hypopigmentation, 3-Methylglutaconic aciduria, Cataract, Spasticity, Seiz... ORPHA:67048
Ethanolaminosis
Cardiomegaly OMIM:227150
Fechtner syndrome
Neutrophil inclusion bodies, Nephritis, Bruising susceptibility, Abnormal bleeding, Menorrhagia, ... OMIM:153640
Oculocerebral Hypopigmentation Syndrome, Preus Type
Hypertonia, Ataxia, Ocular albinism, Generalized hypopigmentation, Hypochromic anemia, Abnormal r... ORPHA:2720
Slc35A1-Cdg
Respiratory distress, Subcutaneous hemorrhage, Abnormal bleeding, Pulmonary hemorrhage, Giant pla... ORPHA:238459
Deafness-Lymphedema-Leukemia Syndrome
Sensorineural hearing impairment, Leukocytosis, Splenomegaly, Bruising susceptibility, Myeloproli... ORPHA:3226
Immunodeficiency 20
Wheezing, Reduced natural killer cell activity, Recurrent sinusitis, Recurrent viral upper respir... OMIM:615707
Ichthyosis-Hepatosplenomegaly-Cerebellar Degeneration Syndrome
Hepatomegaly, Splenomegaly ORPHA:2274
Deafness, Autosomal Dominant 1, With Or Without Thrombocytopenia
Sensorineural hearing impairment, Post-partum hemorrhage, Menorrhagia, Impaired platelet aggregat... OMIM:124900
Reticuloendotheliosis, X-Linked
Anemia, Hepatosplenomegaly, Lymphadenopathy, Jaundice OMIM:312500
Immunodeficiency 32A
Lymphadenopathy OMIM:614893
Respiratory Bronchiolitis-Interstitial Lung Disease Syndrome
Reduced FEV1/FVC ratio, Chronic pulmonary obstruction, Chronic bronchitis, Hypoxemia, Nonproducti... ORPHA:79127
Attenuated Chédiak-Higashi Syndrome
Hypertonia, Ocular albinism, Bruising susceptibility, Generalized hypopigmentation, Gingival blee... ORPHA:352723
Fragile Site, Distamycin A Type, Rare, Fra(16)(Q22.1)
Abnormality of the lymph nodes OMIM:136580
Glanzmann Thrombasthenia
Impaired ristocetin-induced platelet aggregation, Prolonged bleeding following circumcision, Brui... ORPHA:849
Myh9-Related Disease
Sensorineural hearing impairment, Neutrophil inclusion bodies, Nephritis, Bruising susceptibility... ORPHA:182050
Cholestasis, Progressive Familial Intrahepatic, 10
Hepatomegaly, Splenomegaly, Increased total bilirubin, Conjugated hyperbilirubinemia, Hypoalbumin... OMIM:619868
Bernard-Soulier Syndrome
Impaired ristocetin-induced platelet aggregation, Abnormal bleeding, Prolonged bleeding after den... OMIM:231200
Mendelian Susceptibility To Mycobacterial Diseases Due To Partial Irf8 Deficiency
Lymphadenopathy ORPHA:319600
Immunodeficiency 51
Chronic furunculosis, Chronic oral candidiasis, Folliculitis, Recurrent cutaneous fungal infectio... OMIM:613953
Alpha-1-Antitrypsin Deficiency
Panacinar emphysema, Chronic pulmonary obstruction, Chronic bronchitis, Splenomegaly, Cough, Whee... OMIM:613490
Immunodeficiency 14B, Autosomal Recessive
Decreased circulating IgA level, Colitis, Decreased circulating IgG level, Neutrophilia, Leukocyt... OMIM:619281
Bleeding Disorder, Platelet-Type, 8
Persistent bleeding after trauma, Bruising susceptibility, Abnormal bleeding, Prolonged bleeding ... OMIM:609821
Hellp Syndrome
Pulmonary edema, Cerebral hemorrhage, Hemoglobinuria, Increased body weight, Generalized edema, H... ORPHA:244242
Systemic Capillary Leak Syndrome
Pancreatitis, Pulmonary edema, Leukocytosis, Abnormal renal tubule morphology, Myocarditis, Cough... ORPHA:188
Bleeding Disorder, Platelet-Type, 24
Impaired collagen-induced platelet aggregation, Impaired ristocetin-induced platelet aggregation,... OMIM:619271
Albinism-Deafness Syndrome
Partial albinism, Albinism, Patchy hypo- and hyperpigmentation, Piebaldism OMIM:300700
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome
Abnormal hemoglobin, Splenomegaly, Abnormal bleeding, Abnormal platelet function, Anemia, Thrombo... ORPHA:231393
Sarcoidosis, Susceptibility To, 2
Bronchiectasis, Elevated bronchoalveolar lavage fluid lymphocyte proportion, Hypoxemia, Splenomeg... OMIM:612387
Hypophosphatasia
Emphysema, Respiratory insufficiency, Seizure, Anemia, Failure to thrive in infancy ORPHA:436
Congenital Disorder Of Glycosylation, Type Iif
Ataxia, Aminoaciduria, Subcutaneous hemorrhage, Pulmonary hemorrhage, Macrothrombocytopenia, Prot... OMIM:603585
Griscelli Syndrome, Type 2
Melanin pigment aggregation in hair shafts, Hemophagocytosis, Hypopigmentation of the skin, Hepat... OMIM:607624
Emphysema, Hereditary Pulmonary
Chronic pulmonary obstruction, Chronic bronchitis, Emphysema OMIM:130700
Oculocerebral Hypopigmentation Syndrome, Cross Type
Sensorineural hearing impairment, Ataxia, Choroideremia, Ocular albinism, Corneal opacity, Abnorm... ORPHA:2719
Athrombia, Essential
Abnormal bleeding, Impaired platelet aggregation, Impaired platelet adhesion, Prolonged bleeding ... OMIM:209050
Oculocutaneous Albinism, Type Viii
Hypopigmentation of the skin, Hypopigmentation of hair, Iris transillumination defect OMIM:619165
Immunodeficiency 11
Decreased circulating antibody level, Pneumonia, Recurrent respiratory infections OMIM:615206
Albinism-Deafness Syndrome
Heterochromia iridis, Irregular hyperpigmentation, Partial albinism, Piebaldism, Hypopigmented sk... ORPHA:998
Mantle Cell Lymphoma
Lymphadenopathy, Splenomegaly ORPHA:52416
Oculocerebral Syndrome With Hypopigmentation
Hypopigmentation of the skin, Silver-gray hair OMIM:257800
Griscelli Syndrome
Abnormal eyebrow morphology, Ataxia, Splenomegaly, Leukopenia, Silver-gray hair, Abnormality of n... ORPHA:381
Chédiak-Higashi Syndrome
Ataxia, Inability to walk, Hemophagocytosis, Increased proportion of CD25+ mast cells, Tremor, Pa... ORPHA:167
Klippel-Trénaunay Syndrome
Tall stature, Respiratory insufficiency, Hydrops fetalis, Pulmonary embolism, Hematuria, Microcyt... ORPHA:90308
Oculocutaneous Albinism Type 3
Blue irides, Hypopigmentation of the skin, Iris hypopigmentation, White eyebrow, White eyelashes,... ORPHA:79433
Mgat2-Cdg
Respiratory distress, Failure to thrive, Recurrent upper and lower respiratory tract infections, ... ORPHA:79329
Waardenburg Syndrome, Type 2A
Numerous pigmented freckles, Partial albinism, White eyebrow, Albinism, White eyelashes, Synophry... OMIM:193510
Kerion Celsi
Lymphadenopathy, Alopecia ORPHA:499
Hyperpigmentation With Or Without Hypopigmentation, Familial Progressive
Hypermelanotic macule, Progressive hyperpigmentation, Multiple lentigines, Vitiligo, Cafe-au-lait... OMIM:145250
Pulmonary Nodular Lymphoid Hyperplasia
Follicular hyperplasia, Mediastinal lymphadenopathy, Plasmacytosis ORPHA:60026
T-Cell Immunodeficiency With Thymic Aplasia
Failure to thrive, Eczematoid dermatitis, Lymphopenia, Recurrent bronchopulmonary infections, Apl... OMIM:242700
Woolly Hair
Abnormality of hair texture, Woolly hair, Brittle hair, Sparse body hair, Hypopigmentation of hai... ORPHA:170
Birt-Hogg-Dubé Syndrome
Pulmonary sequestration, Abnormality of retinal pigmentation, Renal cell carcinoma, Emphysema, Pn... ORPHA:122
Bare Lymphocyte Syndrome, Type I
Nasal polyposis, Chronic otitis media, Bronchiolitis, Recurrent bronchitis, Chronic sinusitis, Em... OMIM:604571
Cardiomyopathy, Dilated, 1I
Dilated cardiomyopathy, Elevated circulating creatine kinase concentration, Cardiomegaly OMIM:604765
Bleeding Disorder, Platelet-Type, 16
Petechiae, Abnormal bleeding, Impaired platelet aggregation, Macrothrombocytopenia, Giant platele... OMIM:187800
Piebald Trait With Neurologic Defects
White forelock, Absent pigmentation of the ventral chest OMIM:172850
Hidrotic Ectodermal Dysplasia
Sparse scalp hair, Sparse hair, Sparse eyebrow, Alopecia, Slow-growing nails, Absent eyebrow, Spa... ORPHA:189
Immunodeficiency 38 With Basal Ganglia Calcification
Lymphadenopathy OMIM:616126
Tietz Albinism-Deafness Syndrome
White eyebrow, White eyelashes, Blue irides, Generalized hypopigmentation OMIM:103500
Von Willebrand Disease, Type 3
Joint hemorrhage, Persistent bleeding after trauma, Bruising susceptibility, Abnormal bleeding, M... OMIM:277480
Squamous Cell Carcinoma Of The Esophagus
Lymphadenopathy ORPHA:99977
Common Variable Immunodeficiency
Lymphopenia, Splenomegaly, Otitis media, Autoimmune thrombocytopenia, Chronic otitis media, Failu... ORPHA:1572
Bleeding Disorder, Platelet-Type, 18
Impaired platelet aggregation, Epistaxis, Prolonged bleeding time OMIM:615888
Wild Type Attr Amyloidosis
Nephrotic syndrome, Pulmonary edema, Nephropathy, Abnormal pulmonary interstitial morphology, Ped... ORPHA:330001
Glycoprotein Storage Disease
Splenomegaly OMIM:232900
Hemorrhagic Fever-Renal Syndrome
Respiratory distress, Melena, Decreased glomerular filtration rate, Hematuria, Proteinuria, Pneum... ORPHA:340
Lymphoproliferative Syndrome, X-Linked, 1
Neutropenia, Decreased circulating IgG level, Lymphocytosis, Hemophagocytosis, Splenomegaly, Fulm... OMIM:308240
Mixed Connective Tissue Disease
Gastritis, Alopecia, Myocarditis, Gastrointestinal hemorrhage, Pericarditis, Prolonged bleeding t... ORPHA:809
Immunodeficiency 89 And Autoimmunity
Asthma, Crohn's disease, Increased circulating IgA level, Pleural thickening, Increased circulati... OMIM:619632
Waardenburg Syndrome, Type 2E
Sensorineural hearing impairment, Hypoplasia of the semicircular canal, Dilated vestibule of the ... OMIM:611584
Fanconi Renotubular Syndrome 5
Lung adenocarcinoma, Aminoaciduria, Glycosuria, Decreased DLCO, Tubulointerstitial fibrosis, Prot... OMIM:618913
Bleeding Disorder, Platelet-Type, 22
Impaired platelet aggregation, Subcutaneous hemorrhage, Excessive bleeding from superficial cuts OMIM:618462
Chylomicronemia, Familial, Due To Circulating Inhibitor Of Lipoprotein Lipase
Hyperlipoproteinemia, Recurrent pancreatitis, Splenomegaly OMIM:118830
Riboflavin Transporter Deficiency
Sleep apnea, Ataxia, Abnormality of macular pigmentation, Cachexia, Respiratory insufficiency, My... ORPHA:97229
Japanese Encephalitis
Respiratory distress, Status epilepticus, Neutrophilia, Tremor, Cogwheel rigidity, Increased circ... ORPHA:79139
Bardet-Biedl Syndrome 16
Respiratory distress, Retinal degeneration, Rod-cone dystrophy, Renal agenesis, Abnormality of th... OMIM:615993
Wiskott-Aldrich Syndrome, Autosomal Dominant
Otitis media, Eczema, Decreased mean platelet volume, Pneumonia, Prolonged bleeding time, Abnorma... OMIM:600903
Alpha-1-Antitrypsin Deficiency
Hepatitis, Nephrotic syndrome, Emphysema ORPHA:60
Autoinflammation With Infantile Enterocolitis
Failure to thrive, Enterocolitis, Skin rash, Splenomegaly, Diffuse alveolar hemorrhage, Reduced n... OMIM:616050
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome
Hypoalbuminemia, Cardiomegaly ORPHA:88643
Hypotrichosis 8
Sparse scalp hair, Fair hair, Woolly hair, Sparse hair, Sparse axillary hair, Sparse eyelashes, S... OMIM:278150
Thrombocythemia 1
Impaired collagen-induced platelet aggregation, Impaired epinephrine-induced platelet aggregation... OMIM:187950
Platelet Disorder, Familial, With Associated Myeloid Malignancy
Abnormal dense granule content, Bruising susceptibility, Acute monocytic leukemia, Impaired plate... OMIM:601399
Bleeding Disorder, Platelet-Type, 13, Susceptibility To
Impaired thromboxane A2 agonist-induced platelet aggregation, Epistaxis, Ecchymosis, Bruising sus... OMIM:614009
Respiratory Distress Syndrome In Premature Infants
Respiratory distress, Pulmonary edema, Tachypnea, Edema, Neonatal respiratory distress, Dyspnea OMIM:267450
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome
Typical absence seizure, Sensorineural hearing impairment, Bilateral tonic-clonic seizure with ge... ORPHA:2590
Bernard-Soulier Syndrome
Asthma, Impaired ristocetin-induced platelet aggregation, Petechiae, Partially duplicated kidney,... ORPHA:274
Immunodeficiency 75
Decreased proportion of class-switched memory B cells, Hepatosplenomegaly, Follicular hyperplasia... OMIM:619126
Bleeding Disorder, Platelet-Type, 17
Impaired collagen-induced platelet aggregation, Petechiae, Impaired epinephrine-induced platelet ... OMIM:187900
Yemenite Deaf-Blind Hypopigmentation Syndrome
White forelock, Patchy hypo- and hyperpigmentation, Numerous pigmented freckles OMIM:601706
Lymphatic Malformation 7
Respiratory distress, Facial edema, Pulmonary edema, Nonimmune hydrops fetalis, Lymphedema, Edema... OMIM:617300
Immunodeficiency 27A
Histiocytosis, Enlarged mesenteric lymph node, Leukocytosis, Splenomegaly, Hepatosplenomegaly, Th... OMIM:209950
Neuroectodermal Melanolysosomal Disease
Hypertonia, Ataxia, Hypopigmentation of the skin, Hypopigmentation of hair, Rigidity, Optic atrop... ORPHA:33445
Wiskott-Aldrich Syndrome
Keratitis, Otitis media, Eczema, Hematochezia, Spontaneous hematomas, Prolonged bleeding time, Bl... ORPHA:906
Waardenburg Syndrome Type 2
Hypopigmentation of hair, Heterochromia iridis, White forelock, Premature graying of hair, Hypopi... ORPHA:895
Cocaine Intoxication
Respiratory distress, Status epilepticus, Atypical absence status epilepticus, Subarachnoid hemor... ORPHA:90068
Hemochromatosis, Type 2B
Increased circulating ferritin concentration, Hepatomegaly, Splenomegaly, Cirrhosis, Cardiomyopat... OMIM:613313
Macrothrombocytopenia, Isolated, 1, Autosomal Dominant
Impaired platelet aggregation, Macrothrombocytopenia OMIM:613112
Wiskott-Aldrich Syndrome 2
Defective T cell proliferation, Eczema, Decreased proportion of CD8-positive T cells, Reduced nat... OMIM:614493
Albinism, Oculocutaneous, Type Ii
Blue irides, Hypopigmentation of the skin, Hypopigmentation of hair, Freckles in sun-exposed area... OMIM:203200
Piebald Trait-Neurologic Defects Syndrome
Abnormal eyebrow morphology, Irregular hyperpigmentation, Hypopigmentation of hair, Abnormal eyel... ORPHA:2885
Piebald Trait
Piebaldism, Absent pigmentation of the ventral chest, Partial albinism, Heterochromia iridis, Whi... OMIM:172800
Wiskott-Aldrich Syndrome
Melena, Eczema, Decreased mean platelet volume, Prolonged bleeding time, Abnormal delayed hyperse... OMIM:301000
Gray Platelet Syndrome
Impaired collagen-induced platelet aggregation, Bruising susceptibility, Splenomegaly, Abnormal b... OMIM:139090
Sarcoidosis, Susceptibility To, 1
Iridocyclitis, Uveitis, Pancytopenia, Weight loss, Increased circulating antibody level, Splenome... OMIM:181000
Bleeding Disorder, Platelet-Type, 21
Alopecia, Eczema, Menorrhagia, Impaired platelet aggregation, Thrombocytopenia, Psoriasiform derm... OMIM:617443
White Forelock With Malformations
Poliosis, White forelock OMIM:277740
Proteasome-Associated Autoinflammatory Syndrome 5
Hypertriglyceridemia, Hepatomegaly, Splenomegaly OMIM:619175
Alpha-Heavy Chain Disease
Hypocalcemia, Hepatomegaly, Splenomegaly, Alopecia, Anemia, Ascites, Lymphadenopathy ORPHA:100025
Infant Acute Respiratory Distress Syndrome
Pulmonary edema, Tachypnea, Respiratory tract infection, Pneumonia, Hypoxemia, Respiratory failur... ORPHA:70587
Platelet Aggregation, Spontaneous
Abnormal platelet function, Spontaneous platelet aggregation OMIM:173400
Caspase 8 Deficiency
Asthma, Decreased circulating IgA level, Failure to thrive, Decreased circulating IgG level, Recu... OMIM:607271
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2
Low-set ears, Decreased circulating antibody level, Chronic bronchitis, Pneumonia OMIM:614069
Oculocutaneous Albinism Type 4
Abnormality of retinal pigmentation, Ocular albinism, Hypopigmentation of the skin, Hypopigmentat... ORPHA:79435
Autosomal Dominant Spastic Ataxia Type 1
Hypertonia, Limb ataxia, Impaired vibration sensation in the lower limbs, Babinski sign, Jerky he... ORPHA:251282
Pseudo-Von Willebrand Disease
Intermittent thrombocytopenia, Prolonged bleeding time OMIM:177820
Ethylene Glycol Poisoning
Renal tubular dysfunction, Ataxia, Episodic respiratory distress, Pulmonary edema, Gastritis, Myo... ORPHA:31826
Elejalde Neuroectodermal Melanolysosomal Syndrome
Hypopigmentation of the skin, Melanin pigment aggregation in hair shafts, Accumulation of melanos... OMIM:256710
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13
Broad-based gait, Ataxia, Hypopigmentation of the skin, Hypopigmentation of hair, Iris hypopigmen... ORPHA:411515
Gastrointestinal Defects And Immunodeficiency Syndrome 2
Ataxia, Lymphopenia, Dysmetria, Intention tremor, Inflammation of the large intestine, Head titub... OMIM:619708
Immunodeficiency 81
Impaired collagen-induced platelet aggregation, Petechiae, Skin rash, Abnormally low T cell recep... OMIM:619374
Lymphangioleiomyomatosis
Hematuria, Optic atrophy, Retinal hamartoma, Gastrointestinal hemorrhage, Ungual fibroma, Abnorma... ORPHA:538
Leukocyte Adhesion Deficiency
Otitis media, Severe periodontitis, Impaired platelet aggregation, Pneumonia, Bone marrow hypocel... ORPHA:2968
Congenital Lobar Emphysema
Respiratory distress, Emphysema ORPHA:1928
Hemophagocytic Lymphohistiocytosis, Familial, 2
Hemiplegia, Failure to thrive, Ataxia, Hypertonia, Tetraplegia, Hemophagocytosis, Splenomegaly, S... OMIM:603553
Car T Cell Therapy-Associated Cytokine Release Syndrome
Pulmonary edema, Decreased urine output, Skin rash, Tachypnea, Increased inflammatory response, A... ORPHA:542323
Griscelli Syndrome Type 1
Hypertonia, Ataxia, Retinopathy, Partial albinism, Iris hypopigmentation, Seizure, Premature gray... ORPHA:79476
Immunodeficiency 48
Failure to thrive, Eczematoid dermatitis, Splenomegaly, Panhypogammaglobulinemia, Pneumonia, Abse... OMIM:269840
Hemophagocytic Lymphohistiocytosis, Familial, 4
Increased circulating ferritin concentration, Hepatomegaly, Hemophagocytosis, Splenomegaly, Throm... OMIM:603552
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome
Lymphopenia, Splenomegaly, Autoimmune thrombocytopenia, Hemolytic anemia, Hepatitis, Autoimmune h... ORPHA:444463
Moyamoya Disease With Early-Onset Achalasia
Abnormal platelet aggregation, Thrombocytopenia ORPHA:401945
Von Willebrand Disease, Type 1
Joint hemorrhage, Persistent bleeding after trauma, Bruising susceptibility, Prolonged bleeding a... OMIM:193400
Berry Aneurysm, Cirrhosis, Pulmonary Emphysema, And Cerebral Calcification
Seizure, Emphysema OMIM:210050
Griscelli Syndrome Type 2
Hyperlipidemia, Hepatomegaly, Hemophagocytosis, Splenomegaly, Hypopigmentation of hair, Pancytope... ORPHA:79477
Immunodeficiency 104
Otitis media, Splenomegaly, Eczema, T lymphocytopenia, Chronic mucocutaneous candidiasis, Pneumon... OMIM:608971
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Persistence of hemoglobin F, Anemia, Hepatomegaly, Splenomegaly ORPHA:46532
Hypereosinophilic Syndrome, Idiopathic
Hepatomegaly, Splenomegaly, Restrictive cardiomyopathy, Myeloproliferative disorder, Eosinophilia... OMIM:607685
Thrombocytopenia With Beta-Thalassemia, X-Linked
Hirsutism, Petechiae, Bruising susceptibility, Splenomegaly, Hemolytic anemia, Reticulocytosis, T... OMIM:314050
Guanidinoacetate Methyltransferase Deficiency
Ataxia, Atonic seizure, Focal impaired awareness seizure, Generalized myoclonic seizure, Chorea, ... ORPHA:382
Surfactant Metabolism Dysfunction, Pulmonary, 3
Respiratory distress, Apnea, Absent bronchoalveolar surfactant-protein C, Desquamative interstiti... OMIM:610921
Adult Acute Respiratory Distress Syndrome
Abnormal blood gas level, Pulmonary edema, Pancreatitis, Pneumonia, Hypoxemia, Dyspnea, Respirato... ORPHA:70578
Hereditary Motor And Sensory Neuropathy, Okinawa Type
Inability to walk, Aspiration pneumonia, Abnormality of the urinary system, Limb fasciculations, ... ORPHA:90117
Cutis Laxa-Marfanoid Syndrome
Emphysema ORPHA:171719
Pulmonary Edema Of Mountaineers, Susceptibility To
Elevated pulmonary artery pressure, Pulmonary edema, Edema OMIM:178400
Familial Hemophagocytic Lymphohistiocytosis
Sensorineural hearing impairment, Colitis, Petechiae, Hemophagocytosis, Splenomegaly, Skin rash, ... ORPHA:540
Immunodeficiency, Common Variable, 1
Decreased circulating IgA level, Neutropenia in presence of anti-neutropil antibodies, Decreased ... OMIM:607594
Platelet Glycoprotein Iv Deficiency
Abnormal bleeding, Thrombocytopenia, Giant platelets, Prolonged bleeding time OMIM:608404
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis
Increased circulating antibody level, Lymphopenia, Glomerulonephritis, Plasmacytosis, Pneumonia, ... OMIM:247800
Usher Syndrome Type 3
Sensorineural hearing impairment, Ataxia, Vestibular hypofunction, Astigmatism, Iris hypopigmenta... ORPHA:231183
Cutis Laxa, Neonatal, With Marfanoid Phenotype
Emphysema OMIM:614100
Anemia, Hypochromic Microcytic, With Iron Overload 2
Increased circulating ferritin concentration, Decreased mean corpuscular volume, Hypochromia, Hep... OMIM:615234
Hemophagocytic Lymphohistiocytosis, Familial, 3
Granulocytopenia, Hemophagocytosis, Hepatosplenomegaly, Reduced natural killer cell activity, Anemia OMIM:608898
Ermine Phenotype
Sensorineural hearing impairment, Irregular hyperpigmentation, Ocular albinism, Hypopigmentation ... ORPHA:999
Hemoglobin H Disease
Hepatomegaly, Splenomegaly, Reduced alpha/beta synthesis ratio, Hemolytic anemia, HbH hemoglobin OMIM:613978
Platelet Disorder, Undefined
Abnormal bleeding, Impaired platelet aggregation, Prolonged bleeding time, Thrombocytopenia OMIM:173420
Cerebral Dysgenesis, Neuropathy, Ichthyosis, And Palmoplantar Keratoderma Syndrome
Aspiration pneumonia, Failure to thrive, Sensorineural hearing impairment, Optic disc hypoplasia OMIM:609528
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells
Pancytopenia, Decreased helper T cell proportion, Hypersplenism, Splenomegaly OMIM:183350
Microlissencephaly
Hypertonia, Bilateral tonic-clonic seizure with generalized onset, Pneumonia ORPHA:1083
Congenital Heart Defect-Round Face-Developmental Delay Syndrome
Generalized hyperpigmentation, Hypopigmentation of hair ORPHA:1355
Usher Syndrome Type 1
Sensorineural hearing impairment, Ataxia, Vestibular hypofunction, Iris hypopigmentation, Catarac... ORPHA:231169
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive
Failure to thrive, Otitis media, Purulent rhinitis, B lymphocytopenia, Panhypogammaglobulinemia, ... OMIM:601457
Oculocutaneous Albinism
Ocular albinism, Generalized hypopigmentation, Hypopigmentation of the skin, Hypopigmentation of ... ORPHA:55
Platelet Responsiveness To Adrenaline, Depressed
Impaired epinephrine-induced platelet aggregation OMIM:173580
Combined Immunodeficiency, X-Linked
Sinusitis, Decreased circulating IgG level, Otitis media, Decreased proportion of CD8-positive T ... OMIM:312863
Autoinflammation With Episodic Fever And Lymphadenopathy
Hepatomegaly, Recurrent tonsillitis, Splenomegaly, Microcytic anemia, Lymphadenopathy OMIM:618852
Hyperbilirubinemia, Shunt, Primary
Anemia of inadequate production, Hepatomegaly, Hyperbilirubinemia, Splenomegaly, Reticulocytosis,... OMIM:237800
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome
Hypopigmentation of the skin, Albinism, Hypopigmentation of hair ORPHA:2786
Anemia, Nonspherocytic Hemolytic, Possibly Due To Defect In Porphyrin Metabolism
Nonspherocytic hemolytic anemia, Jaundice, Splenomegaly OMIM:206400
Fabry Disease
Hematuria, Optic atrophy, Cataract, Proteinuria, Vertigo, Nephrotic syndrome, Conjunctival telang... ORPHA:324
Hypertriglyceridemia, Transient Infantile
Hepatomegaly, Splenomegaly, Hypertriglyceridemia, Hepatic fibrosis, Hepatic steatosis OMIM:614480
Waardenburg Syndrome, Type 4A
Blue irides, White eyebrow, White eyelashes, Heterochromia iridis, White forelock, Premature gray... OMIM:277580
Sarcoidosis
Alopecia, Maculopapular exanthema, Abnormal pleura morphology, Uveitis, Cataract, Abnormal lung m... ORPHA:797
Purine Nucleoside Phosphorylase Deficiency
Failure to thrive, Sinusitis, Neutropenia in presence of anti-neutropil antibodies, Lymphopenia, ... OMIM:613179
Aspergillosis
Keratitis, Abnormality on pulmonary function testing, Pneumonia, Rhinorrhea, Vitritis, Osteomyeli... ORPHA:1163
Von Willebrand Disease
Abnormality of thrombocytes, Abnormal platelet function ORPHA:903
Infantile Sialic Acid Storage Disease
Hepatomegaly, Vacuolated lymphocytes, Fair hair, Splenomegaly, Hypopigmentation of the skin, Conj... OMIM:269920
Pulmonary Capillary Hemangiomatosis
Interlobular septal thickening, Pulmonary edema, Hypoxemia, Hemothorax, Elevated pulmonary artery... ORPHA:199241
Leishmaniasis
Hepatomegaly, Splenomegaly, Leukopenia, Abnormal macrophage morphology, Thrombocytopenia, Hypoalb... ORPHA:507
Progressive Supranuclear Palsy-Corticobasal Syndrome
Respiratory distress, Parkinsonism with favorable response to dopaminergic medication, Progressiv... ORPHA:240103
Huntington Disease-Like 1
Clumsiness, Bradykinesia, Poor fine motor coordination, Dysmetria, Simultanapraxia, Jerky head mo... ORPHA:157941
Scorpion Envenomation
Ataxia, Ketonuria, Pulmonary edema, Myoclonus, Glycosuria, Abnormal nasal mucus secretion, Myocar... ORPHA:466677
X-Linked Recessive Ocular Albinism
Ocular albinism, Abnormal pupil morphology, Abnormal macular morphology, Hypoplasia of the fovea,... ORPHA:54
Von Willebrand Disease, X-Linked Form
Abnormal bleeding, Prolonged bleeding time OMIM:314560
Bleeding Disorder, Platelet-Type, 12
Joint hemorrhage, Intestinal bleeding, Bruising susceptibility, Menorrhagia, Impaired platelet ag... OMIM:605735
Congenital Disorder Of Glycosylation, Type Iic
Periodontitis, Neutrophilia, Bronchiolitis, Febrile seizure (within the age range of 3 months to ... OMIM:266265
Quebec Platelet Disorder
Joint hemorrhage, Impaired epinephrine-induced platelet aggregation, Bruising susceptibility, Men... OMIM:601709
Immunodeficiency 61
Arthritis, Recurrent sinusitis, Recurrent otitis media, Agammaglobulinemia, Obesity, Recurrent re... OMIM:300310
Isolated Agammaglobulinemia
Failure to thrive, Sinusitis, Skin rash, Otitis media, Abnormal lymphocyte morphology, Arthritis,... ORPHA:229717
Tatsumi Factor Deficiency
Abnormal bleeding, Prolonged bleeding time OMIM:272650
Red Cell Phospholipid Defect With Hemolysis
Reticulocytosis, Hyperbilirubinemia, Intermittent jaundice, Splenomegaly OMIM:179700
Autoerythrocyte Sensitization Syndrome
Joint hemorrhage, Impaired platelet adhesion, Bruising susceptibility, Intracranial hemorrhage, A... ORPHA:324636
Mast Cell Sarcoma
Hepatomegaly, Splenomegaly, Mediastinal lymphadenopathy, Mastocytosis, Lymphadenopathy ORPHA:66661
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities
Abnormal reticulocyte morphology, Anisocytosis, Macrocytic anemia, Poikilocytosis, Increased hemo... OMIM:300835
Idiopathic Achalasia
Wheezing, Cough, Recurrent aspiration pneumonia, Bronchitis, Weight loss ORPHA:930
Hemochromatosis, Type 2A
Increased circulating ferritin concentration, Hepatomegaly, Splenomegaly, Cirrhosis, Dilated card... OMIM:602390
Combined Oxidative Phosphorylation Deficiency 51
Small for gestational age, Aspiration pneumonia, Myoclonus, Rigidity, Optic atrophy, Neonatal res... OMIM:619057
Tularemia
Respiratory distress, Increased circulating antibody level, Cutaneous abscess, Conjunctivitis, Le... ORPHA:3392
Bleeding Disorder, Platelet-Type, 11
Bruising susceptibility, Menorrhagia, Ecchymosis, Epistaxis, Prolonged bleeding time OMIM:614201
Immunodeficiency, Common Variable, 8, With Autoimmunity
B lymphocytopenia, Decreased specific antibody response to vaccination, Uveitis, Pneumonia, Pancy... OMIM:614700
Isolated Congenital Hypoglossia/Aglossia
Respiratory distress, Aspiration pneumonia, Upper airway obstruction, Dyspnea, Weight loss ORPHA:141152
Sea-Blue Histiocyte Disease
Sea-blue histiocytosis, Splenomegaly, Cirrhosis, Absent axillary hair, Thrombocytopenia OMIM:269600
Hepatoportal Sclerosis
Intrahepatic portal vein sclerosis, Abnormality of the hepatic vasculature, Hyperbilirubinemia, P... ORPHA:64743
Cholestasis, Progressive Familial Intrahepatic, 12
Hepatomegaly, Hyperbilirubinemia, Splenomegaly, Cholestasis, Conjugated hyperbilirubinemia, Jaund... OMIM:620010
Macrophage Activation Syndrome
Increased circulating ferritin concentration, Neutropenia, Hepatomegaly, Elevated circulating C-r... ORPHA:158061
Bleeding Disorder, Platelet-Type, 14
Epistaxis, Ecchymosis, Bruising susceptibility, Prolonged bleeding time OMIM:614158
Immunodeficiency 52
Failure to thrive, Increased proportion of gamma-delta T cells, Lymphopenia, Coombs-positive hemo... OMIM:617514
Neurodevelopmental Disorder With Epilepsy And Brain Atrophy
Erratic myoclonus, Ataxia, Myoclonus, Epileptic spasm, Recurrent aspiration pneumonia, Polyhydram... OMIM:619971
Thrombocytopenia, Paris-Trousseau Type
Abnormal bleeding, Thrombocytopenia, Prolonged bleeding time OMIM:188025
Nocardiosis
Keratitis, Respiratory distress, Lymphadenitis, Pneumonia, Pericarditis, Weight loss, Respiratory... ORPHA:31204
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
Classic Mycosis Fungoides
Hepatomegaly, Irregular hyperpigmentation, Alopecia, Splenomegaly, Abnormality of the nail, Abnor... ORPHA:2584
Ogden Syndrome
Apnea, Sparse eyebrow, Eczema, Enlarged kidney, Long eyelashes, Pulmonary hypoplasia, Generalized... OMIM:300855
Ellis Van Creveld Syndrome
Nail dysplasia, Hypoplastic toenails, Failure to thrive, Renal hypoplasia/aplasia, Abnormal hair ... ORPHA:289
Neurofibromatosis-Noonan Syndrome
Multiple cafe-au-lait spots, Abnormal helix morphology, Low-set, posteriorly rotated ears, Prolon... ORPHA:638
Oculocutaneous Albinism Type 1A
Ocular albinism, Hypopigmentation of the skin, Hypopigmentation of hair, Hypoplasia of the fovea,... ORPHA:79431
Sitosterolemia 1
Episodic hemolytic anemia, Splenomegaly, Abnormal bleeding, Reticulocytosis, Arthritis, Impaired ... OMIM:210250
Immunodeficiency 69
Increased circulating ferritin concentration, Leukocytosis, Splenomegaly, Hepatosplenomegaly, Thr... OMIM:618963
Ataxia-Telangiectasia
Failure to thrive, Premature graying of hair, Ataxia, Lymphopenia, Hypopigmentation of hair, Gait... ORPHA:100
Bartter Syndrome, Type 2, Antenatal
Hyperprostaglandinuria, Failure to thrive, Increased urinary potassium, Renal juxtaglomerular cel... OMIM:241200
Hemoglobin D Disease
Decreased mean corpuscular volume, Abnormal hemoglobin, HbS hemoglobin, Splenomegaly, Reduced alp... ORPHA:90039
Neutropenia, Severe Congenital, 9, Autosomal Dominant
Splenomegaly OMIM:619813
Nodular Lymphocyte Predominant Hodgkin Lymphoma
Lymphadenopathy, Hepatomegaly, Splenomegaly ORPHA:86893
Congenital Toxoplasmosis
Abnormality of retinal pigmentation, Hepatomegaly, Thrombocytopenia, Ascites, Anemia, Lymphadenop... ORPHA:858
Congenital Tracheomalacia
Apnea, Decreased peak expiratory flow, Pulmonary hypoplasia, Pneumonia, Tracheomalacia, Wheezing,... ORPHA:95430
Hemophagocytic Lymphohistiocytosis, Familial, 1
Increased circulating ferritin concentration, Hepatomegaly, Hypoproteinemia, Increased LDL choles... OMIM:267700
Hemochromatosis, Type 1
Increased circulating ferritin concentration, Hepatomegaly, Splenomegaly, Alopecia, Cirrhosis, He... OMIM:235200
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia
Decreased specific anti-polysaccharide antibody level, Splenomegaly, Autoimmune thrombocytopenia,... OMIM:300853
Rigid Spine Syndrome
Respiratory insufficiency, Abnormality on pulmonary function testing, Waddling gait, Pneumonia ORPHA:97244
Epidermodysplasia Verruciformis, Susceptibility To, 4
Stomatitis, Emphysema OMIM:618307
Persistent Polyclonal B-Cell Lymphocytosis
Hepatomegaly, Lymphocytosis, Splenomegaly OMIM:606445
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)
Microvesicular hepatic steatosis, Cirrhosis, Cholestasis, Hypoalbuminemia, Ascites, Jaundice OMIM:617156
Macrosomia-Microphthalmia-Cleft Palate Syndrome
Corneal opacity, Respiratory insufficiency, Microcornea, Large for gestational age, Recurrent res... ORPHA:2432
Loeys-Dietz Syndrome 4
Flat cornea, Torticollis, Bruising susceptibility, Eosinophilic infiltration of the esophagus, Ta... OMIM:614816
Meier-Gorlin Syndrome 4
Failure to thrive, Microtia, Breast hypoplasia, Emphysema, Low-set ears OMIM:613804
Ovarian Hyperstimulation Syndrome
Increased serum testosterone level, Hirsutism, Pulmonary edema, Peripheral edema, Pleural effusio... ORPHA:64739
Immunodeficiency 76
Lymphopenia, Splenomegaly, B lymphocytopenia, T lymphocytopenia, Lymphadenopathy OMIM:619164
Essential Thrombocythemia
Splenomegaly, Abnormal platelet morphology, Paresthesia, Abnormality of thrombocytes, Acute leuke... ORPHA:3318
Immunodeficiency 16
Pancytopenia, Coombs-positive hemolytic anemia, Splenomegaly OMIM:615593
Triokinase And Fmn Cyclase Deficiency Syndrome
Pancreatitis, Hepatomegaly, Microcytic anemia, Dilated cardiomyopathy, Hypoalbuminemia, Hepatic s... OMIM:618805
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency
Increased circulating ferritin concentration, Splenomegaly, Anemia, Anisocytosis, Poikilocytosis,... ORPHA:766
Beta-Thalassemia, Dominant Inclusion Body Type
Hepatomegaly, Splenomegaly, Persistence of hemoglobin F, Erythrocyte inclusion bodies, Microcytic... OMIM:603902
Atrioventricular Defect-Blepharophimosis-Radial And Anal Defect Syndrome
Ocular albinism, Microtia, Cupped ear, Myoclonus, Hearing abnormality ORPHA:1352
Hemophilia B
Joint hemorrhage, Delayed onset bleeding, Prolonged bleeding after dental extraction, Intracrania... ORPHA:98879
Angelman Syndrome Due To A Point Mutation
Gait imbalance, Broad-based gait, Ataxia, Recurrent hand flapping, Hypopigmentation of the skin, ... ORPHA:411511
Infantile Osteopetrosis With Neuroaxonal Dysplasia
Conductive hearing impairment, Pneumonia, Seizure ORPHA:85179
Macs Syndrome
Decreased body weight, Sparse hair, Sparse eyebrow, Alopecia, Bruising susceptibility, Palpebral ... OMIM:613075
Familial Isolated Restrictive Cardiomyopathy
Pulmonary venous hypertension, Pulmonary edema, Orthopnea, Peripheral edema, Dyspnea, Recurrent r... ORPHA:75249
Muscular Hypertonia, Lethal
Respiratory distress, Hypertonia, Pneumonia OMIM:254120
Urocanase Deficiency
Ataxia, Fair hair, Blue irides, Tremor, Urocanic aciduria OMIM:276880
Omenn Syndrome
Hepatomegaly, Hypoproteinemia, Splenomegaly, Alopecia, Eosinophilia, Hypoplasia of the thymus, Se... OMIM:603554
Mucopolysaccharidosis, Type Iiib
Hirsutism, Hepatomegaly, Splenomegaly, Coarse hair, Synophrys, Asymmetric septal hypertrophy, Car... OMIM:252920
3-Methylglutaconic Aciduria, Type Viib
Respiratory distress, Ataxia, Zonular cataract, Opisthotonus, Abnormal bleeding, Leukopenia, Myoc... OMIM:616271
Immunodeficiency, Common Variable, 12, With Autoimmunity
Chronic pulmonary obstruction, Recurrent sinopulmonary infections, Recurrent skin infections, Alo... OMIM:616576
Focal Segmental Glomerulosclerosis 1
Anemia, Hyperlipidemia, Hypoalbuminemia OMIM:603278
Hurler-Scheie Syndrome
Generalized hirsutism, Hepatomegaly, Splenomegaly, Abnormality of the tonsils, Abnormal heart val... ORPHA:93476
Erythroleukemia, Familial, Susceptibility To
Hepatomegaly, Splenomegaly, Thrombocytopenia, Anemia, Leukemia, Acute myeloid leukemia, Erythroid... OMIM:133180
Adenocarcinoma Of The Esophagus
Lymphadenopathy ORPHA:99976
Benign Paroxysmal Torticollis Of Infancy
Torticollis, Vertigo, Ataxia, Abnormal head movements ORPHA:71518
Gaucher Disease, Type Ii
Apnea, Failure to thrive, Splenomegaly, Rigidity, Recurrent aspiration pneumonia, Spasticity, Sei... OMIM:230900
Intellectual Disability-Balding-Patella Luxation-Acromicria Syndrome
Abnormal antihelix morphology, Protruding ear, Blue irides, Dysmetria, Micropenis, Spastic parapa... ORPHA:3041
Burkitt Lymphoma
Abnormality of the lymph nodes, Abnormality of the spleen, Abnormality of the pancreas, Decreased... ORPHA:543
Albinism, Oculocutaneous, Type Ia
Ocular albinism, Blue irides, Hypopigmentation of hair, Hypoplasia of the fovea, Astigmatism, Alb... OMIM:203100
1P36 Deletion Syndrome
Optic atrophy, Horizontal eyebrow, Cataract, Hypoplasia of penis, Microtia, Motor stereotypy, Fai... ORPHA:1606
Encephalopathy Due To Prosaposin Deficiency
Hepatomegaly, Splenomegaly ORPHA:139406
Albinism, Ocular, Type I
Giant melanosomes in melanocytes, Ocular albinism, Depigmented fundus OMIM:300500
Angelman Syndrome
Status epilepticus, Ataxia, Inability to walk, Infantile spasms, Tongue thrusting, Optic atrophy,... ORPHA:72
Immunodeficiency 78 With Autoimmunity And Developmental Delay
Recurrent otitis media, Neutropenia in presence of anti-neutropil antibodies, Fluctuating splenom... OMIM:619220
Mu-Heavy Chain Disease
Hepatomegaly, Splenomegaly, Abnormal B cell count, Anemia, Lymphadenopathy ORPHA:100024
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta
Increased circulating antibody level, Decreased lymphocyte proliferation in response to mitogen, ... ORPHA:169160
Combined Immunodeficiency Due To Dock8 Deficiency
Asthma, Recurrent bacterial skin infections, Atopic dermatitis, Chronic otitis media, B lymphocyt... ORPHA:217390
Lipodystrophy, Congenital Generalized, Type 3
Hirsutism, Hypocalcemia, Hepatomegaly, Splenomegaly, Hepatosplenomegaly, Hypertriglyceridemia, Hy... OMIM:612526
Factor V Deficiency
Bruising susceptibility, Abnormal bleeding, Menorrhagia, Epistaxis, Prolonged prothrombin time, P... OMIM:227400
Pseudohypoparathyroidism Type 1A
Sensorineural hearing impairment, Band keratopathy, Reduced circulating prolactin concentration, ... ORPHA:79443
Prader-Willi Syndrome
Abdominal obesity, Sleep apnea, Poor gross motor coordination, Hyperinsulinemia, Poor fine motor ... OMIM:176270
Vogt-Koyanagi-Harada Disease
Sparse scalp hair, Abnormal eyebrow morphology, Poliosis, Vitiligo, Abnormal eyelash morphology, ... ORPHA:3437
Prader-Willi Syndrome Due To Imprinting Mutation
Hypopigmentation of the skin, Iris hypopigmentation, Hypopigmentation of hair, Obesity ORPHA:177910
Neonatal Ichthyosis-Sclerosing Cholangitis Syndrome
Sparse scalp hair, Hepatomegaly, Sparse eyebrow, Splenomegaly, Sparse eyelashes, Sparse body hair... ORPHA:59303
Splenoportal Vascular Anomalies
Splenomegaly, Hyperammonemia, Cirrhosis, Hepatic fibrosis, Ascites, Anomalous splenoportal venous... OMIM:271500
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion
Gait imbalance, Broad-based gait, Ataxia, Recurrent hand flapping, Hypopigmentation of the skin, ... ORPHA:98794
Congenital Disorder Of Glycosylation, Type Iio
Cholestatic liver disease, Hepatomegaly, Prolonged neonatal jaundice, Increased LDL cholesterol c... OMIM:616828
Follicular Lymphoma
Abnormality of the peritoneum, Mediastinal lymphadenopathy, Lymphadenopathy, Splenomegaly ORPHA:545
Oculocutaneous Albinism Type 1
Blue irides, Generalized hypopigmentation, Hypoplasia of the fovea, Depigmented fundus, Optic ner... ORPHA:352731
Kidney Tubulopathy-Dilated Cardiomyopathy Syndrome
Hyperprostaglandinuria, Pulmonary edema, Abnormal renal tubular resorption, Hyperkinetic movement... ORPHA:73224
Immunodeficiency 14A, Autosomal Dominant
Splenomegaly, T lymphocytopenia, Decreased proportion of class-switched memory B cells, Increased... OMIM:615513
Blue Rubber Bleb Nevus
Intestinal bleeding, Microcytic anemia, Skin rash, Prolonged bleeding time ORPHA:1059
Cutis Laxa, Autosomal Recessive, Type Ia
Bladder diverticulum, Overgrowth, Emphysema, Oligohydramnios, Recurrent respiratory infections OMIM:219100
Adult-Onset Foveomacular Vitelliform Dystrophy
Retinal nonattachment, Iris hypopigmentation, Choroideremia, Vitelliform-like macular lesions ORPHA:99000
Ocular Albinism With Late-Onset Sensorineural Deafness
Sensorineural hearing impairment, Ocular albinism ORPHA:1000
Simpson-Golabi-Behmel Syndrome, Type 2
Micropenis, Recurrent upper respiratory tract infections, Multicystic kidney dysplasia, Pneumonia... OMIM:300209
Immunodeficiency 99 With Hypogammaglobulinemia And Autoimmune Cytopenias
Lymphopenia, Follicular hyperplasia, Autoimmune thrombocytopenia, Decreased proportion of class-s... OMIM:619846
Angelman Syndrome Due To Paternal Uniparental Disomy Of Chromosome 15
Gait imbalance, Atypical absence seizure, Bilateral tonic-clonic seizure with generalized onset, ... ORPHA:98795
Galactosemia Iii
Jaundice, Hepatomegaly, Hypergalactosemia, Splenomegaly OMIM:230350
Pneumocystosis
Increased circulating antibody level, Chronic oral candidiasis, Multiple pulmonary cysts, Hypoxem... ORPHA:723
X-Linked Sideroblastic Anemia
Abnormality of iron homeostasis, Anemia, Hyperpigmentation of the skin, Splenomegaly ORPHA:75563
Wyburn-Mason Syndrome
Cerebral hemorrhage, Cerebral palsy, Subarachnoid hemorrhage, Hemiparesis, Tinnitus, Iris hypopig... ORPHA:53719
Fish-Eye Disease
Decreased HDL cholesterol concentration, Hepatomegaly, Lymphadenopathy, Splenomegaly ORPHA:79292
Lymphoproliferative Syndrome 3
Hepatosplenomegaly, Lymphadenopathy, Reduced natural killer cell count OMIM:618261
Piebaldism
Hypopigmentation of hair, White eyebrow, White eyelashes, Synophrys, Heterochromia iridis, Piebal... ORPHA:2884
Ciliary Dyskinesia, Primary, 9
Bronchiectasis, Chronic otitis media, Cough, Chronic rhinitis, Recurrent sinusitis, Chronic sinus... OMIM:612444
Riddle Syndrome
Ataxia, Otitis media, Chronic sinusitis, Pneumonia, Weight loss, Enuresis nocturna, Respiratory f... ORPHA:420741
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Hepatomegaly, Splenomegaly, Extramedullary hematopoiesis, Leukopenia, Neutropenia, Anemia, Thromb... OMIM:615285
Niemann-Pick Disease, Type B
Sea-blue histiocytosis, Hepatomegaly, Increased LDL cholesterol concentration, Splenomegaly, Decr... OMIM:607616
Spastic Paraplegia And Psychomotor Retardation With Or Without Seizures
Broad-based gait, Sensorineural hearing impairment, Ataxia, Inability to walk, Generalized myoclo... OMIM:616756
Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15
Failure to thrive, Decreased circulating T4 concentration, Decreased circulating gonadotropin con... ORPHA:98754
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)
Hepatocellular necrosis, Hepatomegaly, Micronodular cirrhosis, Hyperbilirubinemia, Splenomegaly, ... OMIM:251880
Histiocytoid Cardiomyopathy
Hemiplegia, Congenital aphakia, Corneal opacity, Failure to thrive, Pulmonary edema, Megalocornea... ORPHA:137675
Oculocutaneous Albinism Type 5
Ocular albinism, Hypoplasia of the fovea, Abnormal fundus morphology ORPHA:370091
Liver Disease, Severe Congenital
Chronic gastritis, Eczema, Dry hair, Pneumonia, Alpha-aminobutyric aciduria, Splenomegaly, Perito... OMIM:619991
Harderoporphyria
Increased circulating ferritin concentration, Hepatomegaly, Splenomegaly, Hemolytic anemia, Hyper... OMIM:618892
Bronchiolitis Obliterans With Obstructive Pulmonary Disease
Reduced forced expiratory volume in one second, Bronchiectasis, Reduced FEV1/FVC ratio, Airway ob... ORPHA:1303
Anemia, Sideroblastic, 3, Pyridoxine-Refractory
Increased circulating ferritin concentration, Decreased mean corpuscular volume, Hypochromia, Hep... OMIM:616860
Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion
Failure to thrive, Decreased circulating T4 concentration, Decreased circulating gonadotropin con... ORPHA:98793
Hemoglobin C-Beta-Thalassemia Syndrome
Anemia, Microcytic anemia, Abnormal hemoglobin, Splenomegaly ORPHA:231242
Facioscapulohumeral Muscular Dystrophy 3, Digenic
Aspiration pneumonia OMIM:619477
Rajab Interstitial Lung Disease With Brain Calcifications 1
Slender build, Failure to thrive, Small for gestational age, Respiratory insufficiency, Recurrent... OMIM:613658
Immunodeficiency 102
Partial absence of specific antibody response to unconjugated pneumococcus vaccine, B lymphocytop... OMIM:301082
Hodgkin Lymphoma
Lymphadenopathy, Hepatomegaly, Splenomegaly ORPHA:98293
Cirrhotic Cardiomyopathy
Pulmonary edema, Abnormal bleeding, Elevated pulmonary artery pressure, Conjunctival icterus, Per... ORPHA:57777
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2
Failure to thrive, Decreased circulating T4 concentration, Decreased circulating gonadotropin con... ORPHA:177904
Avian Influenza
Respiratory distress, Lymphopenia, Conjunctivitis, Nonproductive cough, Leukopenia, Myelitis, Tac... ORPHA:454836
Noonan Syndrome
Sensorineural hearing impairment, Aplasia of the semicircular canal, Abnormal hair quantity, Abno... ORPHA:648
Immunodeficiency 84
B lymphocytopenia, Splenomegaly OMIM:619437
Whim Syndrome
Sinusitis, Lymphopenia, Poor fine motor coordination, Limb ataxia, Otitis media, Lymphadenitis, R... ORPHA:51636
Oculocutaneous Albinism Type 2
Hyperpigmented nevi, Abnormality of retinal pigmentation, Blue irides, Hypopigmentation of the sk... ORPHA:79432
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 1
Failure to thrive, Decreased circulating T4 concentration, Decreased circulating gonadotropin con... ORPHA:177901
Lmna-Related Cardiocutaneous Progeria Syndrome
Alopecia universalis, Sparse hair, Absent eyebrow, Intracranial hemorrhage, Papillary renal cell ... ORPHA:363618
Immunodeficiency 64
Failure to thrive, Decreased lymphocyte proliferation in response to mitogen, Decreased circulati... OMIM:618534
Tyrosinemia Type 1
Hepatocellular carcinoma, Hepatomegaly, Splenomegaly ORPHA:882
Carcinoma Of Esophagus
Lymphadenopathy ORPHA:70482
Chorea, Childhood-Onset, With Psychomotor Retardation
Involuntary movements, Abnormal head movements, Chorea OMIM:616939
Lymphoproliferative Syndrome 1
Increased circulating ferritin concentration, Hepatomegaly, Elevated circulating C-reactive prote... OMIM:613011
Huntington Disease-Like 3
Broad-based gait, Extrapyramidal muscular rigidity, Extrapyramidal dyskinesia, Abnormal pyramidal... ORPHA:157946
Rajab Interstitial Lung Disease With Brain Calcifications 2
Hepatosplenomegaly, Hypertriglyceridemia, Microcytic anemia, Hypoalbuminemia, Hepatic steatosis OMIM:619013
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome
Paraparesis, Pulmonary hemorrhage, Panhypogammaglobulinemia, Urinary retention, Pancytopenia, Fai... ORPHA:79124
Wolfram Syndrome 2
Sensorineural hearing impairment, Impaired collagen-induced platelet aggregation, Optic neuropath... OMIM:604928
Trimethylaminuria
Anemia, Neutropenia, Splenomegaly OMIM:602079
Juvenile Neuronal Ceroid Lipofuscinosis
Motor stereotypy, Apnea, Loss of ambulation, Clumsiness, Episodic tachypnea, Retinal degeneration... ORPHA:79264
Familial Cold Autoinflammatory Syndrome 2
Lymphadenopathy, Elevated circulating C-reactive protein concentration, Leukocytosis, Splenomegaly OMIM:611762
Pgm3-Cdg
Ataxia, Abnormal proportion of CD8-positive T cells, Eczema, Chronic sinusitis, Bone marrow hypoc... ORPHA:443811
Mucopolysaccharidosis-Plus Syndrome
Hirsutism, Low anterior hairline, Hepatomegaly, Atrial septal defect, Splenomegaly, Leukopenia, C... OMIM:617303
Immunodeficiency 7
Lymphadenopathy, Hypereosinophilia OMIM:615387
Jeavons Syndrome
Bilateral tonic-clonic seizure with generalized onset, Atonic seizure, Generalized myoclonic seiz... ORPHA:139431
Systemic-Onset Juvenile Idiopathic Arthritis
Elevated circulating C-reactive protein concentration, Hepatomegaly, Splenomegaly, Pericarditis, ... ORPHA:85414
Bile Acid Synthesis Defect, Congenital, 5
Hepatomegaly, Hyperbilirubinemia, Splenomegaly, Iron deficiency anemia, Hepatic fibrosis, Portal ... OMIM:616278
Waardenburg-Shah Syndrome
Abnormal eyebrow morphology, Abnormality of retinal pigmentation, Hypopigmentation of hair, White... ORPHA:897
Classic Pantothenate Kinase-Associated Neurodegeneration
Inability to walk, Rod-cone dystrophy, Tip-toe gait, Aspiration pneumonia, Opisthotonus, Pigmenta... ORPHA:216866
Meier-Gorlin Syndrome 1
Respiratory distress, Failure to thrive, Hyperconvex nail, Micropenis, Small for gestational age,... OMIM:224690
Immunodeficiency 11B With Atopic Dermatitis
Asthma, Eosinophilia, Atopic dermatitis, Pneumonia OMIM:617638
Combined Oxidative Phosphorylation Deficiency 33
Hepatomegaly, Left ventricular hypertrophy, Elevated circulating creatine kinase concentration, C... OMIM:617713
Cystic Fibrosis With Helicobacter Pylori Gastritis, Megaloblastic Anemia, And Mental Retardation
Large earlobe, Megaloblastic anemia, Recurrent bronchopulmonary infections, Gastritis, Hypospadia... OMIM:219721
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss
Hypocalcemia, Splenomegaly, Elevated circulating gamma-aminobutyric acid concentration, Cholestas... OMIM:619658
Aplasia Cutis Congenita
Prolonged bleeding time ORPHA:1114
Mitochondrial Complex Iv Deficiency, Nuclear Type 20
Hepatomegaly, Hyperprolinemia, Long eyelashes, Synophrys, Hyperalaninemia, Cardiomegaly OMIM:619064
Autoimmune Hemolytic Anemia, Cold Type
Abnormal leukocyte morphology, Hemolytic anemia, Splenomegaly ORPHA:228312
Immunodeficiency 103, Susceptibility To Fungal Infections
Abnormal proportion of CD8-positive T cells, Abnormal B cell count, Decreased serum iron, Hypereo... OMIM:212050
Combined Immunodeficiency Due To Zap70 Deficiency
Failure to thrive, Recurrent upper and lower respiratory tract infections, Colitis, Recurrent bac... ORPHA:911
Meier-Gorlin Syndrome 6
Failure to thrive, Conductive hearing impairment, Small for gestational age, Microtia, Stenosis o... OMIM:616835
Osteoporosis And Oculocutaneous Hypopigmentation Syndrome
Hypopigmentation of the skin, Ocular albinism OMIM:601220
Microcephaly-Albinism-Digital Anomalies Syndrome
Hypopigmentation of the skin, Iris hypopigmentation ORPHA:2513
Alpha-Mannosidosis, Adult Form
Ataxia, Corneal opacity, Clumsiness, Oligosacchariduria, Hepatosplenomegaly, Mixed hearing impair... ORPHA:309288
Carnitine Palmitoyltransferase Ii Deficiency, Infantile
Hepatomegaly, Hyperammonemia, Elevated circulating creatine kinase concentration, Macrovesicular ... OMIM:600649
Leukocyte Adhesion Deficiency, Type Iii
Hepatomegaly, Leukocytosis, Splenomegaly, Extramedullary hematopoiesis, Abnormality of the lymph ... OMIM:612840
Ras-Associated Autoimmune Leukoproliferative Disorder
Hepatomegaly, Lymphocytosis, Splenomegaly, Follicular hyperplasia, Autoimmune thrombocytopenia, M... OMIM:614470
Mohr-Tranebjaerg Syndrome
Sensorineural hearing impairment, Absent brainstem auditory responses, Postlingual sensorineural ... ORPHA:52368
Gaucher Disease, Atypical, Due To Saposin C Deficiency
Hepatomegaly, Splenomegaly, Hypocholesterolemia, Anemia, Thrombocytopenia, Hypersplenism OMIM:610539
Cholestasis-Lymphedema Syndrome
Hyperlipidemia, Hepatomegaly, Splenomegaly, Cirrhosis, Conjugated hyperbilirubinemia, Neonatal ch... OMIM:214900
Prader-Willi-Like Syndrome
Failure to thrive, Decreased circulating T4 concentration, Decreased circulating gonadotropin con... ORPHA:398073
Autosomal Recessive Cutis Laxa Type 1
Peripheral pulmonary artery stenosis, Respiratory insufficiency, Urethral diverticulum, Recurrent... ORPHA:90349
Trichohepatoenteric Syndrome 1
Hepatomegaly, Sparse hair, Generalized hypopigmentation, Cholestasis, Abnormality of the pancreas... OMIM:222470
Immunodeficiency 32B
Sinusitis, Splenomegaly, Pneumonia, Bronchiectasis, Recurrent respiratory infections OMIM:226990
Dyskeratosis Congenita, Autosomal Dominant 1
Nail pits, Premature graying of hair, Ataxia, Lymphopenia, Sparse hair, Reticular hyperpigmentati... OMIM:127550
Immunodeficiency 72 With Autoinflammation
Hepatosplenomegaly, Lymphadenopathy, Increased proportion of memory T cells, Increased B cell count OMIM:618982
Cardiomyopathy, Familial Hypertrophic, 4
Respiratory distress, Pulmonary edema, Dyspnea, Ascites, Pericardial effusion OMIM:115197
Laryngeal Neuroendocrine Tumor
Chronic noninfectious lymphadenopathy, Elevated carcinoembryonic antigen level ORPHA:100083
Oculocutaneous Albinism Type 1B
Abnormality of retinal pigmentation, Hypopigmentation of the skin, Hypopigmentation of hair, Iris... ORPHA:79434
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency
Hepatomegaly, Cirrhosis, Hepatosplenomegaly, Dilated cardiomyopathy, Hypoalbuminemia, Portal hype... ORPHA:367
Nephrotic Syndrome, Type 2
Hyperlipidemia, Hypoalbuminemia OMIM:600995
Cholestasis-Lymphedema Syndrome
Hyperlipidemia, Hepatomegaly, Splenomegaly, Cirrhosis, Abnormality of the lymphatic system, Bilia... ORPHA:1414
Immunodeficiency 23
Ataxia, Eczema, Increased circulating IgG level, Somatic sensory dysfunction, Increased circulati... OMIM:615816
Anemia, Congenital Dyserythropoietic, Type Ib
Anemia of inadequate production, Hepatomegaly, Splenomegaly, Anemia, Anisocytosis, Poikilocytosis... OMIM:615631
Staphylococcal Necrotizing Pneumonia
Respiratory distress, Neutrophilia, Leukocytosis, Nonproductive cough, Pleural empyema, Leukopeni... ORPHA:36238
Omenn Syndrome
Failure to thrive, Nephrotic syndrome, Leukocytosis, Splenomegaly, Alopecia, Aplasia/Hypoplasia o... ORPHA:39041
Immunodeficiency 105
Lymphopenia, Hepatosplenomegaly, B lymphocytopenia, Absence of lymph node germinal center, T lymp... OMIM:619924
Kimura Disease
Eosinophilia, Follicular hyperplasia, Lymphadenopathy ORPHA:482
Diarrhea 7, Protein-Losing Enteropathy Type
Hyperlipidemia, Hypoalbuminemia, Hypercholesterolemia OMIM:615863
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1
Failure to thrive, Decreased circulating IgA level, Sinusitis, Chronic bronchitis, T lymphocytope... OMIM:242860
Cutis Laxa, Autosomal Recessive, Type Ic
Bladder diverticulum, Tracheomalacia, Pulmonary hypoplasia, Hydronephrosis, Emphysema, Periorbita... OMIM:613177
Immunodeficiency 92
Decreased circulating IgA level, Osteomyelitis, Decreased circulating IgG level, Lymphocytosis, L... OMIM:619652
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency
Decreased lymphocyte proliferation in response to mitogen, Decreased proportion of naive T cells,... ORPHA:276
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia
Lymphadenitis, B lymphocytopenia, Pancytopenia, Monocytopenia, Chronic bronchitis, T lymphocytope... OMIM:618986
Immunodeficiency, Common Variable, 2
Decreased circulating IgA level, Decreased circulating IgG level, Splenomegaly, Partial absence o... OMIM:240500
Ectodermal Dysplasia-Syndactyly Syndrome 2
Sparse hair, Cardiomegaly OMIM:613576
Fanconi Anemia, Complementation Group F
Failure to thrive, Conductive hearing impairment, Microtia, Leukopenia, Polyhydramnios, Renal hyp... OMIM:603467
Congenital Factor Ii Deficiency
Joint hemorrhage, Abnormal umbilical stump bleeding, Prolonged bleeding following circumcision, P... ORPHA:325
Brucellosis
Myocarditis, Chorea, Epididymitis, Pulmonary granulomatosis, Pneumonia, Knee osteoarthritis, Peri... ORPHA:1304
Neonatal Marfan Syndrome
Hypoxemia, Small for gestational age, Megalocornea, Crumpled ear, Iridodonesis, Emphysema, Neonat... ORPHA:284979
Edinburgh Malformation Syndrome
Failure to thrive, Hirsutism, Generalized hirsutism, Hypertonia, Respiratory insufficiency, Brush... ORPHA:1895
Q Fever
Respiratory distress, Maculopapular exanthema, Hematuria, Myocarditis, Pneumonia, Pericarditis, W... ORPHA:781
Autosomal Agammaglobulinemia
Failure to thrive, Sinusitis, Osteomyelitis, Skin rash, Recurrent skin infections, Dehydration, E... ORPHA:33110
Refractory Celiac Disease
Hypomagnesemia, Hypophosphatemia, Hypocalcemia, Hypoproteinemia, Increased proportion of HLA DR+ ... ORPHA:398063
Combined Immunodeficiency With Faciooculoskeletal Anomalies
Hypertrichosis, Ataxia, B lymphocytopenia, Decreased specific antibody response to vaccination, G... ORPHA:221139
Progressive Familial Intrahepatic Cholestasis
Hypocalcemia, Hepatomegaly, Splenomegaly, Cholestasis, Jaundice ORPHA:172
Sea-Blue Histiocytosis
Sea-blue histiocytosis, Hepatomegaly, Splenomegaly, Hypopigmentation of the skin, Mediastinal lym... ORPHA:158029
Episodic Ataxia Type 4
Ataxia, Incoordination, Frequent falls, Abnormal head movements, Vertigo ORPHA:79136
Heme Oxygenase 1 Deficiency
Increased circulating ferritin concentration, Elevated circulating C-reactive protein concentrati... OMIM:614034
Ehlers-Danlos Syndrome, Vascular Type
Periodontitis, Absent earlobe, Pulmonary bulla, Nodular pattern on pulmonary HRCT, Hemothorax, Re... OMIM:130050
Prothrombin Deficiency, Congenital
Joint hemorrhage, Bruising susceptibility, Menorrhagia, Gingival bleeding, Ecchymosis, Gastrointe... OMIM:613679
X-Linked Intellectual Disability-Retinitis Pigmentosa Syndrome
Iris hypopigmentation ORPHA:85332
Ataxia-Telangiectasia
Ataxia, Inability to walk, Progressive cerebellar ataxia, Tremor, Leukemia, Slurred speech, Decre... OMIM:208900
Primary Dystonia, Dyt13 Type
Torticollis, Motor stereotypy, Action tremor, Jerky head movements, Involuntary movements, Postur... ORPHA:98807
Spastic Paraplegia-Severe Developmental Delay-Epilepsy Syndrome
Sensorineural hearing impairment, Ataxia, Generalized myoclonic seizure, Retinal dystrophy, Diffi... ORPHA:464282
Primary Intestinal Lymphangiectasia
Hypomagnesemia, Hypocalcemia, Peritoneal effusion, Lymphopenia, Hypoproteinemia, Decreased propor... ORPHA:90362
Granulomatous Slack Skin
Hypercalcemia, Abnormality of the lymph nodes ORPHA:33111
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome
Alopecia, Hypopigmentation of hair, Abnormal heart morphology ORPHA:1067
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Recessive
Sparse hair, Alopecia, Cirrhosis, Fragile nails, Hypoalbuminemia, Decreased circulating copper co... OMIM:242150
Mucoepithelial Dysplasia, Hereditary
Nail dysplasia, Melena, Alopecia, Fibrocystic lung disease, Corneal neovascularization, Eosinophi... OMIM:158310
Alpha-Thalassemia
Cholelithiasis, Abnormal hemoglobin, Splenomegaly, Hemolytic anemia, Microcytic anemia, Anemia, J... ORPHA:846