Gene Summary

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

IMPC Data Collections

IMPC Phenotype Summary

Not Significant
Not tested


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 eye morphology Bloc1s6em1(IMPC)Mbp HOM Early adult 0.00
enlarged heart Bloc1s6em1(IMPC)Mbp HOM Early adult 0.00
abnormal heart morphology Bloc1s6em1(IMPC)Mbp HOM Early adult 0.00
abnormal coat/hair pigmentation Bloc1s6em1(IMPC)Mbp HOM Early adult 2.87×10-15
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
hyperactivity Bloc1s6em1(IMPC)Mbp HOM   Early adult 5.19×10-05
abnormal skin morphology Bloc1s6em1(IMPC)Mbp HOM Early adult 0.00
increased circulating serum albumin level Bloc1s6em1(IMPC)Mbp HOM Early adult 1.47×10-05

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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.


XRay Images Whole Body Dorso Ventral

30 Images


XRay Images Whole Body Lateral Orientation

10 Images



14 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
Matching phenotypes Source
Hermansky-Pudlak Syndrome 9
Hypopigmentation of the skin, Abnormal platelet aggregation, Thrombocytopenia, Leukopenia, Recurr... OMIM:614171

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

Disease Similarity of
Matching phenotypes Source
Griscelli Syndrome, Type 3
Large clumps of pigment irregularly distributed along hair shaft, White eyelashes, Silver-gray hair OMIM:609227
Griscelli Syndrome Type 3
Iris hypopigmentation, Hypopigmentation of hair, Partial albinism ORPHA:79478
Albinism-Microcephaly-Digital Anomalies Syndrome
Albinism OMIM:203340
Albinism, Oculocutaneous, Type Iii
Albinism, Red hair, Partial albinism OMIM:203290
Dyschromatosis Universalis Hereditaria 1
Hyperpigmented/hypopigmented macules OMIM:127500
Dyschromatosis Symmetrica Hereditaria
Hyperpigmented/hypopigmented macules OMIM:127400
Griscelli Syndrome, Type 1
Silver-gray hair, Melanin pigment aggregation in hair shafts, Hypopigmentation of the skin, Large... OMIM:214450
Tietz Syndrome
White eyebrow, Abnormality of skin pigmentation, Hypopigmentation of the skin, Hypopigmentation o... ORPHA:42665
Mediosternal Depigmentation Line
Mediosternal, longitudinal streak of hypopigmentation OMIM:155200
Familial Isolated Café-Au-Lait Macules
Freckling, Multiple cafe-au-lait spots ORPHA:2678
Dowling-Degos Disease 3
Reticulated skin pigmentation, Hyperpigmented/hypopigmented macules OMIM:615674
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
Hermansky-Pudlak Syndrome 2
Absent platelet dense granules, Impaired ADP-induced platelet aggregation, Splenomegaly, Enlarged... OMIM:608233
Waardenburg Syndrome, Type 2F
Premature graying of hair, Hypermelanotic macule, Hypopigmentation of the skin, Heterochromia iri... OMIM:619947
Uncombable Hair Syndrome
Abnormal hair morphology, White hair, Patchy alopecia, Woolly hair, Trichodysplasia, Coarse hair ORPHA:1410
Hepatic Venoocclusive Disease With Immunodeficiency
Abnormality of the liver, Absence of lymph node germinal center, Endocardial fibrosis OMIM:235550
Ataxia-Pancytopenia Syndrome
Pancytopenia, Abnormal macrophage morphology, Decreased circulating antibody level, Abnormal plat... ORPHA:2585
Hermansky-Pudlak Syndrome 6
Absent platelet dense granules, Urinary incontinence, Hypopigmentation of the skin, Impaired ADP-... OMIM:614075
Albinism, Oculocutaneous, Type Ib
Albinism, Hypopigmentation of the skin, Hypopigmentation of hair OMIM:606952
Hermansky-Pudlak Syndrome 4
Absent platelet dense granules, Abnormal bleeding, Menorrhagia, Epistaxis, Hypoplasia of the fove... OMIM:614073
Glanzmann Thrombasthenia 1
Gastrointestinal hemorrhage, Purpura, Impaired epinephrine-induced platelet aggregation, Impaired... OMIM:273800
Hermansky-Pudlak Syndrome 1
Hypopigmentation of hair, Colitis, Hypopigmentation of the skin, Gingival bleeding, Inflammation ... OMIM:203300
Primary Immunodeficiency Syndrome Due To Lamtor2 Deficiency
Partial albinism, Hypopigmentation of hair ORPHA:90023
Free Sialic Acid Storage Disease
Hydrops fetalis, Oculomotor apraxia, Seizure, Athetosis, Spasticity, Ascites, Gait disturbance, N... ORPHA:834
Hypocomplementemic Urticarial Vasculitis
Irregular hyperpigmentation, Inflammatory abnormality of the eye, Sensorineural hearing impairmen... ORPHA:36412
Chediak-Higashi Syndrome
Spontaneous, recurrent epistaxis, Hypopigmentation of the skin, Recurrent bacterial skin infectio... OMIM:214500
Epidermolysis Bullosa Simplex 6, Generalized Intermediate, With Or Without Cardiomyopathy
Alopecia of scalp, Onychogryposis of toenails, Dystrophic toenail, Hypopigmentation of the skin, ... OMIM:617294
Glanzmann Thrombasthenia 2
Abnormal bleeding, Impaired epinephrine-induced platelet aggregation, Impaired clot retraction, D... OMIM:619267
Hermansky-Pudlak Syndrome 11
Iris transillumination defect, Ocular albinism, Gingival bleeding, Impaired collagen-induced plat... OMIM:619172
Hermansky-Pudlak Syndrome 7
Impaired platelet aggregation, Post-partum hemorrhage, Menorrhagia, Epistaxis, Bruising susceptib... OMIM:614076
Hermansky-Pudlak Syndrome 5
Absent platelet dense granules, Iris transillumination defect, Impaired ADP-induced platelet aggr... OMIM:614074
Macrothrombocytopenia And Granulocyte Inclusions With Or Without Nephritis Or Sensorineural Hearing Loss
Abnormality of the kidney, Abnormal bleeding, Neutrophil inclusion bodies, Giant platelets, Impai... OMIM:155100
Thrombocytopenia 7
Post-partum hemorrhage, Impaired ADP-induced platelet aggregation, Impaired collagen-induced plat... OMIM:619130
Hermansky-Pudlak Syndrome 9
Hypopigmentation of the skin, Abnormal platelet aggregation, Thrombocytopenia, Leukopenia, Recurr... OMIM:614171
Waardenburg Syndrome, Type 2B
Premature graying of hair, White forelock, Heterochromia iridis OMIM:600193
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Abnormal pulmonary interstitial morphology, Anemia, Hemophagocytosis, Decreased circulating antib... OMIM:613101
Netherton Syndrome
Irregular hyperpigmentation, Trichorrhexis nodosa, Emphysema, Ectopic kidney, Recurrent respirato... ORPHA:634
Autoimmune Lymphoproliferative Syndrome, Type Iii
Increased circulating antibody level, Recurrent sinusitis, Splenomegaly, Stage 5 chronic kidney d... OMIM:615559
Waardenburg Syndrome, Type 4B
Hypopigmented skin patches, Premature graying of hair, Heterochromia iridis, White forelock, Whit... OMIM:613265
Abnormality of the kidney, Pulmonary edema, Acute kidney injury, Thrombocytopenia, Proteinuria, C... ORPHA:275555
Severe Combined Immunodeficiency, X-Linked
Chronic oral candidiasis, Impaired lymphocyte transformation with phytohemagglutinin, Decreased c... OMIM:300400
Ermine Phenotype
White hair, White eyelashes, Vitiligo, Spotty hyperpigmentation, White eyebrow, Abnormal iris pig... OMIM:227010
Osteopathia Striata-Pigmentary Dermopathy-White Forelock Syndrome
White forelock, Macular hyperpigmented dermopathy ORPHA:2779
Albinism, Oculocutaneous, Type Iv
Albinism, Blue irides, Hypopigmentation of hair OMIM:606574
Bleeding Disorder, Platelet-Type, 22
Gastrointestinal hemorrhage, Excessive bleeding from superficial cuts, Impaired ADP-induced plate... OMIM:618462
Hermansky-Pudlak Syndrome 3
Abnormal bleeding, Hypopigmentation of hair, Impaired platelet aggregation, Spontaneous, recurren... OMIM:614072
Mantle Cell Lymphoma
Anorexia, Splenomegaly, Lymphadenopathy ORPHA:52416
Hermansky-Pudlak Syndrome
Gastrointestinal hemorrhage, Astigmatism, Neutropenia, Abnormal bleeding, Hypopigmentation of hai... ORPHA:79430
3-Methylglutaconic Aciduria Type 4
3-Methylglutaconic aciduria, Seizure, Spasticity, Hearing impairment, Failure to thrive, Iris hyp... ORPHA:67048
Tietz Albinism-Deafness Syndrome
Generalized hypopigmentation, Heterochromia iridis, White eyelashes, White eyebrow, Blue irides OMIM:103500
Hermansky-Pudlak Syndrome 8
Iris transillumination defect, Astigmatism, Excessive bleeding from superficial cuts, Silver-gray... OMIM:614077
Oculocerebral Hypopigmentation Syndrome, Preus Type
Abnormal renal tubule morphology, Hypertonia, Generalized hypopigmentation, Seizure, White hair, ... ORPHA:2720
Tremor Of Intention, Ataxia, And Lipofuscinosis
Premature graying of hair OMIM:190200
Deafness, Autosomal Dominant 1, With Or Without Thrombocytopenia
Impaired platelet aggregation, Sensorineural hearing impairment, Post-partum hemorrhage, Menorrha... OMIM:124900
Optic atrophy, Pulmonary edema, Hypoventilation, Polyhydramnios, Sensorineural hearing impairment... ORPHA:79330
Hermansky-Pudlak Syndrome 10
Abnormal pulmonary interstitial morphology, Focal myoclonic seizure, Neutropenia, Low-set ears, B... OMIM:617050
Vici Syndrome
Sensorineural hearing impairment, Hypopigmentation of the skin, T lymphocytopenia, Leukopenia, Ly... OMIM:242840
Congenital Disorder Of Glycosylation, Type Iif
Decreased platelet glycoprotein Ib, Subcutaneous hemorrhage, Seizure, Thrombocytopenia, Ataxia, P... OMIM:603585
Ichthyosis-Hepatosplenomegaly-Cerebellar Degeneration Syndrome
Hepatomegaly, Splenomegaly ORPHA:2274
Attenuated Chédiak-Higashi Syndrome
Hypertonia, Abnormality of extrapyramidal motor function, Generalized hypopigmentation, Incoordin... ORPHA:352723
Cardiomegaly OMIM:227150
Bleeding Disorder, Platelet-Type, 24
Platelet anisocytosis, Abnormal bleeding, Impaired epinephrine-induced platelet aggregation, Impa... OMIM:619271
Bleeding Disorder, Platelet-Type, 11
Abnormal platelet count, Impaired collagen-induced platelet aggregation, Menorrhagia, Epistaxis, ... OMIM:614201
Immunodeficiency 38 With Basal Ganglia Calcification
Lymphadenopathy, Axillary lymphadenopathy, Inguinal lymphadenopathy OMIM:616126
Immunodeficiency 20
Recurrent otitis media, Recurrent viral upper respiratory tract infections, Recurrent sinusitis, ... OMIM:615707
Cholestasis, Progressive Familial Intrahepatic, 10
Jaundice, Portal fibrosis, Hepatomegaly, Increased serum bile acid concentration, Increased total... OMIM:619868
Amyloidosis, Hereditary, Transthyretin-Related
Limb ataxia, Pulmonary edema, Urinary incontinence, Paraplegia, Positive Romberg sign, Truncal at... OMIM:105210
Immunodeficiency 51
Chronic oral candidiasis, Recurrent otitis media, Recurrent bronchitis, Chronic mucocutaneous can... OMIM:613953
Immunodeficiency 14B, Autosomal Recessive
Monocytosis, B lymphocytopenia, Leukocytosis, Decreased circulating IgG level, Inflammation of th... OMIM:619281
Deafness-Lymphedema-Leukemia Syndrome
Acute leukemia, Chronic otitis media, Abnormal neutrophil count, Sensorineural hearing impairment... ORPHA:3226
Fragile Site, Distamycin A Type, Rare, Fra(16)(Q22.1)
Abnormal lymph node morphology OMIM:136580
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome
Abnormal bleeding, Anemia, Abnormal platelet function, Thrombocytopenia, Splenomegaly, Abnormal h... ORPHA:231393
Platelet Signal Processing Defect
Abnormal bleeding, Impaired epinephrine-induced platelet aggregation, Impaired ADP-induced platel... OMIM:173590
Oculocerebral Syndrome With Hypopigmentation
Hypopigmentation of the skin, Silver-gray hair OMIM:257800
Oculocerebral Hypopigmentation Syndrome, Cross Type
Anemia, Hypopigmentation of hair, Abnormality of extrapyramidal motor function, Sensorineural hea... ORPHA:2719
Oculocutaneous Albinism, Type Viii
Iris transillumination defect, Hypopigmentation of the skin, Hypopigmentation of hair OMIM:619165
Myh9-Related Disease
Neutrophil inclusion bodies, Giant platelets, Renal insufficiency, Sensorineural hearing impairme... ORPHA:182050
Athrombia, Essential
Impaired platelet aggregation, Prolonged bleeding time, Abnormal bleeding, Impaired platelet adhe... OMIM:209050
Glanzmann Thrombasthenia
Spontaneous hematomas, Gastrointestinal hemorrhage, Purpura, Spontaneous, recurrent epistaxis, Gi... ORPHA:849
Griscelli Syndrome
Premature graying of hair, Hypopigmented skin patches, Silver-gray hair, Abnormal eyelash morphol... ORPHA:381
Reticuloendotheliosis, X-Linked
Jaundice, Anemia, Lymphadenopathy, Hepatosplenomegaly OMIM:312500
Hellp Syndrome
Prolonged prothrombin time, Pulmonary edema, Acute kidney injury, Decreased mean corpuscular hemo... ORPHA:244242
Abnormal bleeding, Giant platelets, Abnormal platelet granules, Subcutaneous hemorrhage, Thromboc... ORPHA:238459
Bleeding Disorder, Platelet-Type, 18
Impaired epinephrine-induced platelet aggregation, Impaired ADP-induced platelet aggregation, Men... OMIM:615888
Albinism-Deafness Syndrome
Hypopigmented skin patches, Irregular hyperpigmentation, Piebald skin depigmentation, Heterochrom... ORPHA:998
Bleeding Disorder, Platelet-Type, 25
Excessive bleeding from superficial cuts, Post-partum hemorrhage, Spontaneous, recurrent epistaxi... OMIM:620486
Mendelian Susceptibility To Mycobacterial Diseases Due To Partial Irf8 Deficiency
Lymphadenopathy ORPHA:319600
Allergic Bronchopulmonary Aspergillosis
Emphysema, Abnormal eosinophil morphology, Abnormal fingernail morphology, Weight loss, Bronchiec... ORPHA:1164
Bleeding Disorder, Platelet-Type, 16
Platelet anisocytosis, Abnormal bleeding, Giant platelets, Anemia, Impaired platelet aggregation,... OMIM:187800
Hyperpigmentation With Or Without Hypopigmentation, Familial Progressive
Hypopigmented skin patches, Multiple lentigines, Hypermelanotic macule, Cafe-au-lait spot, Progre... OMIM:145250
Oculocutaneous Albinism Type 3
Blue irides, Red hair, Hypopigmentation of the skin, Iris hypopigmentation, White eyelashes, Whit... ORPHA:79433
Griscelli Syndrome, Type 2
Melanin pigment aggregation in hair shafts, Hypopigmentation of the skin, Accumulation of melanos... OMIM:607624
Bernard-Soulier Syndrome
Purpura, Abnormal bleeding, Giant platelets, Gastrointestinal hemorrhage, Gingival bleeding, Meno... OMIM:231200
Wild Type Attr Amyloidosis
Pulmonary edema, Abnormal pulmonary interstitial morphology, Renal insufficiency, Pleural effusio... ORPHA:330001
Woolly Hair
Hypopigmentation of hair, Brittle hair, Slow-growing hair, Abnormality of hair texture, Woolly ha... ORPHA:170
Waardenburg Syndrome, Type 2A
Premature graying of hair, Numerous pigmented freckles, Heterochromia iridis, Synophrys, White fo... OMIM:193510
Idiopathic Bronchiectasis
Emphysema, Recurrent lower respiratory tract infections, Acute infectious pneumonia, Cachexia, Re... ORPHA:60033
Thrombocytopenia 9
Abnormal bleeding, Thrombocytopenia, Decreased circulating thrombopoietin concentration, Abnormal... OMIM:620478
Hidrotic Ectodermal Dysplasia
Nail dystrophy, Slow-growing nails, Hypopigmentation of hair, Small nail, Absent pubic hair, Hype... ORPHA:189
Bleeding Disorder, Platelet-Type, 21
Abnormal bleeding, Impaired platelet aggregation, Impaired ADP-induced platelet aggregation, Ecze... OMIM:617443
Lymphoproliferative Syndrome, X-Linked, 1
Aplastic anemia, Dysgammaglobulinemia, Recurrent pharyngitis, Hemophagocytosis, Pancytopenia, Lym... OMIM:308240
Piebald Trait With Neurologic Defects
White forelock, Absent pigmentation of the ventral chest OMIM:172850
Chédiak-Higashi Syndrome
Abnormal leukocyte morphology, Skin rash, Abnormal platelet function, Hypopigmentation of the ski... ORPHA:167
Bleeding Disorder, Platelet-Type, 13, Susceptibility To
Abnormal platelet count, Impaired thromboxane A2 agonist-induced platelet aggregation, Ecchymosis... OMIM:614009
Squamous Cell Carcinoma Of The Esophagus
Lymphadenopathy ORPHA:99977
Bleeding Disorder, Platelet-Type, 8
Abnormal bleeding, Impaired ADP-induced platelet aggregation, Ecchymosis, Epistaxis, Persistent b... OMIM:609821
Waardenburg Syndrome, Type 2E
Premature graying of hair, Hypopigmented skin patches, Hypertonia, Hypoplasia of the semicircular... OMIM:611584
T-Cell Immunodeficiency With Thymic Aplasia
Reduced delayed hypersensitivity, Emphysema, Pyoderma, Abnormally low T cell receptor excision ci... OMIM:242700
Immunodeficiency 27A
Anorexia, Anemia, Thrombocytosis, Lymphadenopathy, Leukocytosis, Hepatosplenomegaly, Splenomegaly... OMIM:209950
Attention Deficit-Hyperactivity Disorder
Hyperactivity, Attention deficit hyperactivity disorder OMIM:143465
Kerion Celsi
Lymphadenopathy, Alopecia ORPHA:499
Autoinflammation With Infantile Enterocolitis
Anemia, Pancytopenia, Skin rash, Failure to thrive, Enterocolitis, Thrombocytopenia, Splenomegaly... OMIM:616050
Failure to thrive in infancy, Seizure, Emphysema, Anemia ORPHA:436
Systemic Capillary Leak Syndrome
Abnormal renal tubule morphology, Pulmonary edema, Myocarditis, Pancreatitis, Pleural effusion, L... ORPHA:188
Bronchopulmonary Dysplasia
Atelectasis, Emphysema, Diaphragmatic paralysis, Pulmonary sequestration, Abnormal lung morpholog... ORPHA:70589
Bare Lymphocyte Syndrome, Type I
Chronic otitis media, Emphysema, Recurrent bronchitis, Bronchiolitis, Nasal polyposis, Ectopia le... OMIM:604571
Birt-Hogg-Dubé Syndrome
Pneumothorax, Emphysema, Pulmonary sequestration, Renal cell carcinoma, Abnormality of retinal pi... ORPHA:122
Essential Thrombocythemia
Acute leukemia, Abnormal bleeding, Thrombocytosis, Vertigo, Leukocytosis, Abnormal platelet morph... ORPHA:3318
Sarcoidosis, Susceptibility To, 2
Pneumothorax, Abnormal pulmonary interstitial morphology, Emphysema, Erythema nodosum, Pleural ef... OMIM:612387
Thrombocythemia 1
Impaired epinephrine-induced platelet aggregation, Impaired ADP-induced platelet aggregation, Imp... OMIM:187950
Pulmonary Nodular Lymphoid Hyperplasia
Plasmacytosis, Mediastinal lymphadenopathy, Follicular hyperplasia ORPHA:60026
Neuroectodermal Melanolysosomal Disease
Premature graying of hair, Optic atrophy, Macular dystrophy, Hypertonia, Hypopigmentation of hair... ORPHA:33445
Yemenite Deaf-Blind Hypopigmentation Syndrome
Numerous pigmented freckles, Patchy hypo- and hyperpigmentation, White forelock OMIM:601706
Abnormal bleeding, Hydrops fetalis, Impaired lymphocyte transformation with phytohemagglutinin, A... ORPHA:79329
Cardiomyopathy, Dilated, 1I
Cardiomegaly, Dilated cardiomyopathy, Elevated circulating creatine kinase concentration OMIM:604765
Albinism, Oculocutaneous, Type Ii
Red hair, Hypopigmentation of hair, Hypopigmentation of the skin, Albinism, Blue irides, Freckles... OMIM:203200
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 7
Premature graying of hair, Nail dystrophy, Emphysema, Anemia, Lymphopenia, Thrombocytopenia, Pulm... OMIM:620365
Common Variable Immunodeficiency
Chronic otitis media, Purpura, Emphysema, Recurrent respiratory infections, Recurrent bronchitis,... ORPHA:1572
Klippel-Trénaunay Syndrome
Tall stature, Hydrops fetalis, Hematuria, Gastrointestinal hemorrhage, Ascites, Internal hemorrha... ORPHA:90308
White Forelock With Malformations
White forelock, Poliosis OMIM:277740
Alpha-1-Antitrypsin Deficiency
Bronchiectasis, Chronic bronchitis, Splenomegaly, Panacinar emphysema OMIM:613490
Waardenburg Syndrome Type 2
Hypopigmented skin patches, Premature graying of hair, Hypopigmentation of hair, Heterochromia ir... ORPHA:895
Piebald Trait-Neurologic Defects Syndrome
Hypopigmented skin patches, Irregular hyperpigmentation, Hypopigmentation of hair, Abnormal eyela... ORPHA:2885
Mixed Connective Tissue Disease
Gastrointestinal hemorrhage, Skin rash, Pericarditis, Leukopenia, Splenomegaly, Myocarditis, Seiz... ORPHA:809
Glycoprotein Storage Disease
Splenomegaly OMIM:232900
Albinism, Oculocutaneous, Type Vi
Generalized hypopigmentation, Fair hair OMIM:113750
Alpha-Heavy Chain Disease
Hepatomegaly, Anemia, Lymphadenopathy, Hypocalcemia, Ascites, Splenomegaly, Alopecia ORPHA:100025
Macrothrombocytopenia, Isolated, 1, Autosomal Dominant
Impaired platelet aggregation, Macrothrombocytopenia OMIM:613112
Von Willebrand Disease, Type 3
Abnormal bleeding, Impaired platelet aggregation, Menorrhagia, Joint hemorrhage, Thrombocytopenia... OMIM:277480
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome
Cardiomegaly, Hypoalbuminemia ORPHA:88643
Wiskott-Aldrich Syndrome 2
Defective T cell proliferation, Decreased proportion of CD8-positive T cells, Eczematoid dermatit... OMIM:614493
Japanese Encephalitis
Pill-rolling tremor, Pulmonary edema, Hypertonia, Paralysis, Increased circulating antibody level... ORPHA:79139
Piebald Trait
Piebald skin depigmentation, Heterochromia iridis, White forelock, Absent pigmentation of the ven... OMIM:172800
Elejalde Neuroectodermal Melanolysosomal Syndrome
Melanin pigment aggregation in hair shafts, Hypopigmentation of the skin, Accumulation of melanos... OMIM:256710
Respiratory Bronchiolitis-Interstitial Lung Disease Syndrome
Hypersensitivity pneumonitis, Emphysema, Honeycomb lung, Respiratory tract infection, Weight loss... ORPHA:79127
Emphysema, Hereditary Pulmonary
Emphysema, Chronic bronchitis OMIM:130700
Bleeding Disorder, Platelet-Type, 15
Platelet anisocytosis, Impaired clot retraction, Impaired ADP-induced platelet aggregation, Incre... OMIM:615193
Autosomal Dominant Spastic Ataxia Type 1
Spastic gait, Limb ataxia, Impaired proprioception, Difficulty walking, Babinski sign, Hypertonia... ORPHA:251282
Wiskott-Aldrich Syndrome
Hematemesis, Impaired lymphocyte transformation with phytohemagglutinin, Recurrent sinusitis, Epi... OMIM:301000
Fanconi Renotubular Syndrome 5
Emphysema, Tubulointerstitial fibrosis, Glycosuria, Lung adenocarcinoma, Proteinuria, Pulmonary f... OMIM:618913
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13
Hypopigmentation of hair, Broad-based gait, Seizure, Hypopigmentation of the skin, Iris hypopigme... ORPHA:411515
Immunodeficiency 75 With Lymphoproliferation
Follicular hyperplasia, Hepatosplenomegaly, Lymphadenopathy, Decreased proportion of class-switch... OMIM:619126
Chylomicronemia, Familial, Due To Circulating Inhibitor Of Lipoprotein Lipase
Splenomegaly, Hyperlipoproteinemia, Recurrent pancreatitis OMIM:118830
Hemorrhagic Fever-Renal Syndrome
Hematemesis, Decreased glomerular filtration rate, Decreased urine output, Epistaxis, Oliguria, A... ORPHA:340
Usher Syndrome Type 3
Vestibular hypofunction, Astigmatism, Sensorineural hearing impairment, Abnormal cochlea morpholo... ORPHA:231183
Hemophagocytic Lymphohistiocytosis, Familial, 2
Prolonged prothrombin time, Hypertonia, Anemia, Hemophagocytosis, Pancytopenia, Seizure, Skin ras... OMIM:603553
Griscelli Syndrome Type 1
Premature graying of hair, Hypertonia, Seizure, White hair, Retinopathy, Iris hypopigmentation, A... ORPHA:79476
Oculocutaneous Albinism Type 4
Optic nerve misrouting, Hypopigmentation of hair, White hair, Hypopigmentation of the skin, Iris ... ORPHA:79435
Respiratory Distress Syndrome In Premature Infants
Edema, Pulmonary edema, Atelectasis OMIM:267450
Guanidinoacetate Methyltransferase Deficiency
Generalized myoclonic seizure, Abnormality of extrapyramidal motor function, Chorea, Seizure, Ath... ORPHA:382
Wiskott-Aldrich Syndrome
Chronic otitis media, Hematemesis, Spontaneous hematomas, Abnormal platelet function, Sinusitis, ... ORPHA:906
Immunodeficiency 81
Autoimmune hemolytic anemia, Decreased proportion of class-switched memory B cells, Decreased pro... OMIM:619374
Immunodeficiency 89 And Autoimmunity
Pleural thickening, Hypochromic microcytic anemia, Recurrent lower respiratory tract infections, ... OMIM:619632
Von Willebrand Disease, Platelet-Type
Prolonged bleeding time, Intermittent thrombocytopenia OMIM:177820
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome
Eyelid myoclonus, Generalized myoclonic seizure, Difficulty walking, Myoclonic status epilepticus... ORPHA:2590
Mucopolysaccharidosis, Type Iiib
Hepatomegaly, Hyperactivity, Hirsutism, Synophrys, Asymmetric septal hypertrophy, Splenomegaly, C... OMIM:252920
Immunodeficiency 115 With Autoinflammation
Intestinal lymphangiectasia, Anemia, Elevated circulating C-reactive protein concentration, Eleva... OMIM:620632
Neutrophilia, Hereditary
Neutrophilia, Splenomegaly OMIM:162830
Hemochromatosis, Type 2B
Cirrhosis, Hepatomegaly, Anemia, Hyperpigmentation of the skin, Cardiomyopathy, Increased circula... OMIM:613313
Usher Syndrome Type 1
Vestibular hypofunction, Sensorineural hearing impairment, Abnormal cochlea morphology, Iris hypo... ORPHA:231169
Hypermethioninemia With S-Adenosylhomocysteine Hydrolase Deficiency
Increased circulating creatine kinase MM isoform, Cardiomyopathy, Decreased hepatic echogenicity,... OMIM:613752
Moyamoya Disease With Early-Onset Achalasia
Thrombocytopenia, Abnormal platelet aggregation ORPHA:401945
Riboflavin Transporter Deficiency
Cachexia, Seizure, Progressive hearing impairment, Abnormality of macular pigmentation, Tremor, I... ORPHA:97229
Griscelli Syndrome Type 2
Premature graying of hair, Jaundice, Hepatomegaly, Lymphadenopathy, Hypopigmentation of hair, Pan... ORPHA:79477
Proteasome-Associated Autoinflammatory Syndrome 5
Hypertriglyceridemia, Hepatomegaly, Splenomegaly OMIM:619175
Bleeding Disorder, Platelet-Type, 17
Abnormal bleeding, Gastrointestinal hemorrhage, Impaired epinephrine-induced platelet aggregation... OMIM:187900
Anorexia, Hepatomegaly, Anemia, Lymphadenopathy, Pancytopenia, Abnormal macrophage morphology, Le... ORPHA:507
Gastrointestinal Defects And Immunodeficiency Syndrome 2
Optic atrophy, Seizure, Intention tremor, Dilatation of the renal pelvis, Inflammation of the lar... OMIM:619708
Platelet Glycoprotein Iv Deficiency
Prolonged bleeding time, Thrombocytopenia, Giant platelets, Abnormal bleeding OMIM:608404
Albinism-Deafness Syndrome
Piebald skin depigmentation, Albinism, Patchy hypo- and hyperpigmentation, Ocular albinism OMIM:300700
Infant Acute Respiratory Distress Syndrome
Pneumonia, Pulmonary edema, Respiratory tract infection, Atelectasis ORPHA:70587
Ermine Phenotype
Hypopigmented skin patches, Irregular hyperpigmentation, Astigmatism, Hypopigmentation of hair, S... ORPHA:999
Caspase 8 Deficiency
Reduced CD95-induced lymphocyte apoptosis, Decreased CD4:CD8 ratio, Complete or near-complete abs... OMIM:607271
Familial Hemophagocytic Lymphohistiocytosis
Purpura, Anemia, Hemophagocytosis, Petechiae, Sensorineural hearing impairment, Seizure, Decrease... ORPHA:540
Hemophagocytic Lymphohistiocytosis, Familial, 3
Anemia, Hemophagocytosis, Reduced natural killer cell activity, Hepatosplenomegaly, Granulocytopenia OMIM:608898
Hemophagocytic Lymphohistiocytosis, Familial, 4
Hypertriglyceridemia, Hepatomegaly, Jaundice, Hemophagocytosis, Anemia, Lymphadenopathy, Thromboc... OMIM:603552
Platelet Disorder, Undefined
Impaired platelet aggregation, Prolonged bleeding time, Abnormal bleeding, Thrombocytopenia OMIM:173420
Cocaine Intoxication
Pneumothorax, Pulmonary edema, Acute kidney injury, Focal-onset seizure, Hematuria, Mydriasis, Hy... ORPHA:90068
Premature graying of hair, Hypopigmentation of hair, Abnormality of chromosome stability, Decreas... ORPHA:100
Immunodeficiency 104
Splenomegaly, Hepatomegaly, Lymphadenopathy, T lymphocytopenia OMIM:608971
Purine Nucleoside Phosphorylase Deficiency
Sinusitis, Ataxia, Splenomegaly, Lymphopenia, Decreased lymphocyte proliferation in response to m... OMIM:613179
Pneumothorax, Optic atrophy, Retinal hamartoma, Renal neoplasm, Emphysema, Atelectasis, Recurrent... ORPHA:538
Bardet-Biedl Syndrome 16
Recurrent otitis media, Recurrent respiratory infections, Bronchiolitis, Renal cyst, Renal agenes... OMIM:615993
Congenital Heart Defect-Round Face-Developmental Delay Syndrome
Generalized hyperpigmentation, Hypopigmentation of hair ORPHA:1355
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome
Autoimmune hemolytic anemia, Lymphadenopathy, Splenomegaly, Lymphopenia, Autoimmune thrombocytope... ORPHA:444463
Neutropenia, Severe Congenital, 9, Autosomal Dominant
Splenomegaly OMIM:619813
Nodular Lymphocyte Predominant Hodgkin Lymphoma
Anorexia, Splenomegaly, Hepatomegaly, Lymphadenopathy ORPHA:86893
Waardenburg Syndrome, Type 4A
Hypopigmented skin patches, Premature graying of hair, Heterochromia iridis, White forelock, Whit... OMIM:277580
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome
Albinism, Hypopigmentation of the skin, Hypopigmentation of hair ORPHA:2786
Gray Platelet Syndrome
Abnormal bleeding, Impaired thrombin-induced platelet aggregation, Abnormal number of alpha granu... OMIM:139090
Platelet Disorder, Familial, With Associated Myeloid Malignancy
Purpura, Acute myeloid leukemia, Abnormal dense granule content, Impaired platelet aggregation, P... OMIM:601399
Bernard-Soulier Syndrome
Hematemesis, Spontaneous hematomas, Gastrointestinal hemorrhage, Abnormal bleeding, Giant platele... ORPHA:274
Fabry Disease
Sensorineural hearing impairment, Vertigo, Corneal opacity, Acroparesthesia, Optic atrophy, Seizu... ORPHA:324
Hypereosinophilic Syndrome, Idiopathic
Endocardial fibrosis, Hepatomegaly, Restrictive cardiomyopathy, Myeloproliferative disorder, Sple... OMIM:607685
Berry Aneurysm, Cirrhosis, Pulmonary Emphysema, And Cerebral Calcification
Seizure, Emphysema OMIM:210050
Pneumonia, Hypertonia, Bilateral tonic-clonic seizure with generalized onset ORPHA:1083
Thrombocytopenia With Beta-Thalassemia, X-Linked
Petechiae, Reticulocytosis, Reduced platelet alpha granules, Increased mean platelet volume, Thro... OMIM:314050
Leukocyte Adhesion Deficiency
Perianal abscess, Nail dystrophy, Severe periodontitis, Impaired platelet aggregation, Sinusitis,... ORPHA:2968
High Altitude Pulmonary Edema
Pulmonary edema, Leukocytosis, Vertigo ORPHA:330012
Epidermodysplasia Verruciformis, Susceptibility To, 4
Stomatitis, Emphysema, Increased proportion of exhausted T cells OMIM:618307
Cerebral Dysgenesis, Neuropathy, Ichthyosis, And Palmoplantar Keratoderma Syndrome
Failure to thrive, Sensorineural hearing impairment, Optic disc hypoplasia, Aspiration pneumonia OMIM:609528
Huntington Disease-Like 1
Bradykinesia, Jerky head movements, Chorea, Seizure, Incoordination, Poor fine motor coordination... ORPHA:157941
Cutis Laxa-Marfanoid Syndrome
Emphysema ORPHA:171719
Sarcoidosis, Susceptibility To, 1
Abnormal pulmonary interstitial morphology, Emphysema, Increased circulating antibody level, Panc... OMIM:181000
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Hepatomegaly, Anemia, Splenomegaly, Persistence of hemoglobin F ORPHA:46532
Congenital Disorder Of Glycosylation, Type Iic
Recurrent otitis media, Periodontitis, Reduction of neutrophil motility, Bronchiolitis, Febrile s... OMIM:266265
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis
Autoimmune hemolytic anemia, Increased circulating antibody level, Plasmacytosis, Lymphopenia, Pn... OMIM:247800
Infantile Sialic Acid Storage Disease
Hepatomegaly, Vacuolated lymphocytes, Hypopigmentation of the skin, Ascites, Splenomegaly, Conjug... OMIM:269920
X-Linked Recessive Ocular Albinism
Astigmatism, Giant melanosomes in melanocytes, Iris hypopigmentation, Abnormal pupil morphology, ... ORPHA:54
Cutis Laxa, Neonatal, With Marfanoid Phenotype
Emphysema OMIM:614100
Congenital Lobar Emphysema
Emphysema ORPHA:1928
Combined Immunodeficiency, X-Linked
Decreased proportion of CD8-positive T cells, Abnormal natural killer cell count, Recurrent bronc... OMIM:312863
Von Willebrand Disease, X-Linked Form
Prolonged bleeding time, Abnormal bleeding OMIM:314560
Hypotrichosis 8
Coarse hair, Ridged nail, Sparse scalp hair, Woolly hair, Sparse eyelashes, Nail pits, Sparse eye... OMIM:278150
Von Willebrand Disease, Type 1
Gastrointestinal hemorrhage, Impaired platelet aggregation, Menorrhagia, Joint hemorrhage, Epista... OMIM:193400
Lymphatic Malformation 7
Pulmonary edema, Anemia, Chylothorax, Lymphedema, Pleural effusion, Ascites, Increased nuchal tra... OMIM:617300
Woolly Hair Nevus
Woolly scalp hair, Heterochromia iridis, Curly hair, Congenital posterior occipital alopecia, Pat... ORPHA:79414
Bernard-Soulier Syndrome, Type A2, Autosomal Dominant
Petechiae, Gingival bleeding, Impaired ADP-induced platelet aggregation, Hemolytic anemia, Increa... OMIM:153670
Ethylene Glycol Poisoning
Pulmonary edema, Renal tubular epithelial necrosis, Hematuria, Gastritis, Renal tubular dysfuncti... ORPHA:31826
Immunodeficiency, Common Variable, 1
Recurrent otitis media, Decreased proportion of class-switched memory B cells, Recurrent bronchit... OMIM:607594
Tatsumi Factor Deficiency
Prolonged bleeding time, Abnormal bleeding OMIM:272650
Autoinflammation With Episodic Fever And Lymphadenopathy
Hepatomegaly, Lymphadenopathy, Recurrent tonsillitis, Splenomegaly, Microcytic anemia OMIM:618852
Hemoglobin H Disease
HbH hemoglobin, Hepatomegaly, Reduced alpha/beta synthesis ratio, Splenomegaly, Hemolytic anemia OMIM:613978
Pulmonary Edema Of Mountaineers, Susceptibility To
Edema, Pulmonary edema OMIM:178400
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells
Decreased helper T cell proportion, Hypersplenism, Splenomegaly, Pancytopenia OMIM:183350
Car T Cell Therapy-Associated Cytokine Release Syndrome
Pulmonary edema, Acute kidney injury, Skin rash, Pleural effusion, Increased inflammatory respons... ORPHA:542323
Hyperbilirubinemia, Shunt, Primary
Jaundice, Hepatomegaly, Hyperbilirubinemia, Anemia of inadequate production, Reticulocytosis, Spl... OMIM:237800
Laryngeal Neuroendocrine Tumor
Anorexia, Elevated circulating carcinoembryonic antigen concentration, Chronic noninfectious lymp... ORPHA:100083
Isolated Agammaglobulinemia
Anemia, Inflammatory abnormality of the eye, Arthritis, Skin rash, Abnormal lymphocyte morphology... ORPHA:229717
Hypopigmentation of the skin, Increased T cell count, Nephrocalcinosis, Leukopenia, Erythema nodo... ORPHA:797
Neurofibromatosis-Noonan Syndrome
Prolonged bleeding time, Abnormal helix morphology, Multiple cafe-au-lait spots, Low-set, posteri... ORPHA:638
Wolfram Syndrome 2
Optic atrophy, Abnormal bleeding, Sensorineural hearing impairment, Neurogenic bladder, Decreased... OMIM:604928
Drug-Induced Localized Lipodystrophy
Hypopigmentation of the skin, Hyperpigmentation of the skin ORPHA:90157
Oculocutaneous Albinism Type 1A
Hypopigmentation of hair, Hypopigmentation of the skin, Abnormal optic nerve morphology, Iris hyp... ORPHA:79431
Thrombocytopenia, Paris-Trousseau Type
Prolonged bleeding time, Abnormal bleeding, Thrombocytopenia OMIM:188025
Retinitis Pigmentosa, X-Linked, And Sinorespiratory Infections With Or Without Deafness
Atelectasis, Recurrent bronchitis, High-frequency hearing impairment, Otitis media, Rod-cone dyst... OMIM:300455
Hepatoportal Sclerosis
Abnormal liver parenchyma morphology, Jaundice, Anemia, Periportal fibrosis, Hyperbilirubinemia, ... ORPHA:64743
Sitosterolemia 1
Corneal arcus, Abnormal bleeding, Chronic hemolytic anemia, Giant platelets, Anemia, Impaired pla... OMIM:210250
Activated Pi3K-Delta Syndrome
Recurrent otitis media, B lymphocytopenia, Arthritis, Decreased circulating antibody level, Bronc... ORPHA:397596
Autoerythrocyte Sensitization Syndrome
Gastrointestinal hemorrhage, Hematuria, Impaired platelet adhesion, Vertigo, Oral cavity bleeding... ORPHA:324636
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive
Failure to thrive secondary to recurrent infections, Panhypogammaglobulinemia, B lymphocytopenia,... OMIM:601457
Immunodeficiency 48
Impaired lymphocyte transformation with phytohemagglutinin, Panhypogammaglobulinemia, Eczematoid ... OMIM:269840
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia
Decreased specific anti-polysaccharide antibody level, Recurrent otitis media, Decreased CD4:CD8 ... OMIM:300853
Bartter Syndrome, Type 2, Antenatal
Renal salt wasting, Polyuria, Polyhydramnios, Hyperchloriduria, Hyperprostaglandinuria, Impaired ... OMIM:241200
Mast Cell Sarcoma
Hepatomegaly, Mediastinal lymphadenopathy, Lymphadenopathy, Mastocytosis, Splenomegaly ORPHA:66661
Hemochromatosis, Type 2A
Cirrhosis, Hepatomegaly, Hyperpigmentation of the skin, Cardiomyopathy, Increased circulating iro... OMIM:602390
C1Q Deficiency 2
Recurrent otitis media, Anemia, Atelectasis, Recurrent lower respiratory tract infections, Malar ... OMIM:620321
Congenital Toxoplasmosis
Jaundice, Anemia, Lymphadenopathy, Hepatomegaly, Ascites, Abnormality of retinal pigmentation, Th... ORPHA:858
Neurodevelopmental Disorder With Epilepsy And Brain Atrophy
Epileptic spasm, Polyhydramnios, Erratic myoclonus, Seizure, Recurrent aspiration pneumonia, Atax... OMIM:619971
Classic Mycosis Fungoides
Irregular hyperpigmentation, Hypopigmented skin patches, Hepatomegaly, Lymphadenopathy, Abnormali... ORPHA:2584
Hemophagocytic Lymphohistiocytosis, Familial, 1
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Hepatomegaly, Jaundice, Hemophagoc... OMIM:267700
Alpha-1-Antitrypsin Deficiency
Panniculitis, Emphysema, Bronchitis, Nephrotic syndrome, Bronchiectasis, Hepatitis ORPHA:60
Scorpion Envenomation
Myocarditis, Pulmonary edema, Acute kidney injury, Mydriasis, Purpura, Hyperkinetic movements, Se... ORPHA:466677
Cholestasis, Progressive Familial Intrahepatic, 12
Jaundice, Hepatomegaly, Increased serum bile acid concentration, Hyperbilirubinemia, Cholestasis,... OMIM:620010
8p23.1 deletion syndrome
Hyperactivity, Atrial septal defect, Atrioventricular canal defect, Abnormal heart morphology DECIPHER:39
Adenocarcinoma Of The Esophagus
Lymphadenopathy ORPHA:99976
Ciliary Dyskinesia, Primary, 47, And Lissencephaly
Chronic otitis media, Atelectasis, Seizure, Bronchiectasis, Recurrent respiratory infections OMIM:619466
Intellectual Developmental Disorder, X-Linked 109
Agitation, Hyperactivity, Recurrent hand flapping, Compulsive behaviors, Impulsivity, Stereotypic... OMIM:309548
Whim Syndrome
Limb ataxia, Atelectasis, Severe periodontitis, Seizure, Decreased circulating antibody level, Ly... ORPHA:51636
Adult Acute Respiratory Distress Syndrome
Pneumonia, Pulmonary edema, Pancreatitis ORPHA:70578
Atrioventricular Defect-Blepharophimosis-Radial And Anal Defect Syndrome
Hearing abnormality, Microtia, Ocular albinism, Myoclonus, Cupped ear ORPHA:1352
Anemia, Nonspherocytic Hemolytic, Possibly Due To Defect In Porphyrin Metabolism
Jaundice, Splenomegaly, Nonspherocytic hemolytic anemia OMIM:206400
Immunodeficiency, Common Variable, 8, With Autoimmunity
Chronic neutropenia, Decreased specific antibody response to vaccination, Recurrent sinusitis, Sp... OMIM:614700
Red Cell Phospholipid Defect With Hemolysis
Hyperbilirubinemia, Intermittent jaundice, Splenomegaly, Reticulocytosis OMIM:179700
Ellis Van Creveld Syndrome
Nail dysplasia, Abnormality of the kidney, Epispadias, Renal hypoplasia/aplasia, Emphysema, Hypos... ORPHA:289
Fraxe Intellectual Disability
Agitation, Hyperactivity, Recurrent hand flapping, Compulsive behaviors, Impulsivity, Stereotypic... ORPHA:100973
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 4
Premature graying of hair OMIM:616371
Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency
Optic neuritis, Crohn's disease, Splenomegaly, Psoriasiform dermatitis, Thyroiditis, Decreased ci... ORPHA:436159
Sea-Blue Histiocyte Disease
Cirrhosis, Sea-blue histiocytosis, Thrombocytopenia, Splenomegaly, Absent axillary hair OMIM:269600
Intellectual Disability-Balding-Patella Luxation-Acromicria Syndrome
Blue irides, Frontal balding, Truncal obesity, Abnormal antihelix morphology, Seizure, Cafe-au-la... ORPHA:3041
Ogden Syndrome
Enlarged kidney, Fine hair, Oligohydramnios, Hypertonia, Polycystic kidney dysplasia, Aspiration,... OMIM:300855
Bleeding Disorder, Platelet-Type, 12
Impaired platelet aggregation, Menorrhagia, Joint hemorrhage, Epistaxis, Intestinal bleeding, Bru... OMIM:605735
Macrophage Activation Syndrome
Hypertriglyceridemia, Hepatomegaly, Anemia, Hemophagocytosis, Abnormal natural killer cell count,... ORPHA:158061
Immunodeficiency 52
Defective T cell proliferation, Abnormal natural killer cell count, Decreased circulating antibod... OMIM:617514
Vogt-Koyanagi-Harada Disease
Hypopigmented skin patches, Premature graying of hair, Abnormal eyelash morphology, Sparse scalp ... ORPHA:3437
Prader-Willi Syndrome Due To Imprinting Mutation
Iris hypopigmentation, Obesity, Hypopigmentation of the skin, Hypopigmentation of hair ORPHA:177910
Abnormality of the kidney, Hypersensitivity pneumonitis, Pleuritis, Increased circulating IgE lev... ORPHA:1163
Hemoglobin D Disease
Anemia, HbS hemoglobin, Reduced alpha/beta synthesis ratio, Sickled erythrocytes, Decreased mean ... ORPHA:90039
Hemochromatosis, Type 1
Cirrhosis, Hepatomegaly, Hyperpigmentation of the skin, Hepatocellular carcinoma, Cardiomyopathy,... OMIM:235200
Albinism, Ocular, Type I
Hypoplasia of the fovea, Giant melanosomes in melanocytes, Depigmented fundus, Ocular albinism OMIM:300500
Anemia, Increased circulating antibody level, Inflammatory abnormality of the eye, Erythema nodos... ORPHA:3392
Immunodeficiency 32B
Anemia, Abnormal circulating IgG level, Bronchiectasis, Eosinophilia, Failure to thrive, Sinusiti... OMIM:226990
Oculocutaneous Albinism Type 1
Iris transillumination defect, Optic nerve misrouting, Abnormal morphology of the choroidal vascu... ORPHA:352731
Progressive Supranuclear Palsy-Corticobasal Syndrome
Bradykinesia, Jerky head movements, Limb apraxia, Apraxia, Progressive extrapyramidal muscular ri... ORPHA:240103
T-Cell Lymphopenia, Infantile, With Or Without Nail Dystrophy, Autosomal Dominant
Nail dystrophy, Abnormally low T cell receptor excision circle level, Atopic dermatitis, T lympho... OMIM:618806
Benign Paroxysmal Torticollis Of Infancy
Vertigo, Ataxia, Torticollis, Abnormal head movements ORPHA:71518
Quebec Platelet Disorder
Impaired epinephrine-induced platelet aggregation, Menorrhagia, Joint hemorrhage, Thrombocytopeni... OMIM:601709
1P36 Deletion Syndrome
Hypoplasia of penis, Sensorineural hearing impairment, Microtia, Abnormal eyebrow morphology, Opt... ORPHA:1606
Immunodeficiency 78 With Autoimmunity And Developmental Delay
Autoimmune hemolytic anemia, Fluctuating splenomegaly, Recurrent otitis media, Recurrent lower re... OMIM:619220
Epilepsy With Eyelid Myoclonia
Generalized non-motor (absence) seizure, Generalized myoclonic seizure, Focal seizure with eyelid... ORPHA:139431
Angelman Syndrome Due To A Point Mutation
Gait imbalance, Hypopigmentation of hair, Broad-based gait, Seizure, Hypopigmentation of the skin... ORPHA:411511
Macs Syndrome
Palpebral edema, Recurrent aphthous stomatitis, Decreased body weight, Sparse eyebrow, Bruising s... OMIM:613075
Ciliary Dyskinesia, Primary, 33
Recurrent otitis media, Atelectasis, Recurrent lower respiratory tract infections, Recurrent bron... OMIM:616726
Albinism, Oculocutaneous, Type Ia
Astigmatism, Hypopigmentation of hair, Ocular albinism, White hair, Hypoplasia of the fovea, Albi... OMIM:203100
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2
B lymphocytopenia, Decreased circulating antibody level, Low-set ears, Decreased circulating IgG ... OMIM:614069
Atelis Syndrome 1
Irregular hyperpigmentation, Hypertonia, Anemia, Microtia, Cataract, Eczematoid dermatitis, Cafe-... OMIM:620184
Immunodeficiency 61
Recurrent otitis media, Decreased circulating IgG4 level, Obesity, Recurrent sinusitis, Decreased... OMIM:300310
Von Willebrand Disease
Gastrointestinal hemorrhage, Muscle hemorrhage, Petechiae, Abnormal platelet function, Menorrhagi... ORPHA:903
Persistent Polyclonal B-Cell Lymphocytosis
Lymphocytosis, Hepatomegaly, Splenomegaly OMIM:606445
Triokinase And Fmn Cyclase Deficiency Syndrome
Hepatomegaly, Pancreatitis, Hypoalbuminemia, Dilated cardiomyopathy, Hepatic steatosis, Microcyti... OMIM:618805
Kidney Tubulopathy-Dilated Cardiomyopathy Syndrome
Pulmonary edema, Hyperkinetic movements, Hyperprostaglandinuria, Hypercalciuria, Abnormal renal t... ORPHA:73224
Angelman Syndrome
Optic atrophy, Generalized myoclonic seizure, Astigmatism, Inability to walk, Broad-based gait, K... ORPHA:72
Adult-Onset Foveomacular Vitelliform Dystrophy
Choroideremia, Iris hypopigmentation, Retinal nonattachment, Vitelliform-like macular lesions ORPHA:99000
Encephalopathy Due To Prosaposin Deficiency
Hepatomegaly, Splenomegaly ORPHA:139406
Hypertriglyceridemia, Transient Infantile
Hypertriglyceridemia, Hepatomegaly, Splenomegaly, Hepatic fibrosis, Hepatic steatosis OMIM:614480
Ocular Albinism With Late-Onset Sensorineural Deafness
Sensorineural hearing impairment, Ocular albinism ORPHA:1000
Meier-Gorlin Syndrome 4
Breast hypoplasia, Emphysema, Microtia, Low-set ears, Failure to thrive OMIM:613804
Noonan Syndrome
Juvenile myelomonocytic leukemia, Abnormal bleeding, Low-set, posteriorly rotated ears, Abnormal ... ORPHA:648
Surfactant Metabolism Dysfunction, Pulmonary, 3
Reticular pattern on pulmonary HRCT, Paraseptal emphysema, Honeycomb lung, Crazy paving pattern, ... OMIM:610921
Immunodeficiency 69
Increased circulating ferritin concentration, Anemia, Hemophagocytosis, Pancytopenia, Leukocytosi... OMIM:618963
Hurler-Scheie Syndrome
Hepatomegaly, Abnormal heart valve morphology, Abnormality of the tonsils, Cardiomyopathy, Genera... ORPHA:93476
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency
Chronic hemolytic anemia, Anemia, Reduced red cell pyruvate kinase level, Reticulocytosis, Poikil... ORPHA:766
Combined Oxidative Phosphorylation Deficiency 51
Optic atrophy, Aspiration pneumonia, Hearing impairment, Rigidity, Myoclonus, Small for gestation... OMIM:619057
Hereditary Motor And Sensory Neuropathy, Okinawa Type
Limb fasciculations, Distal sensory impairment, Inability to walk, Tremor, Aspiration pneumonia, ... ORPHA:90117
Immunodeficiency 76
Lymphadenopathy, B lymphocytopenia, T lymphocytopenia, Splenomegaly, Lymphopenia OMIM:619164
Huntington Disease-Like 3
Urinary incontinence, Broad-based gait, Abnormality of extrapyramidal motor function, Chorea, Sei... ORPHA:157946
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant
Lymphadenopathy, Decreased proportion of class-switched memory B cells, Increased proportion of t... OMIM:615513
Ovarian Hyperstimulation Syndrome
Pulmonary edema, Increased serum testosterone level, Hirsutism, Pleural effusion, Ascites, Genera... ORPHA:64739
Hypopigmented skin patches, Hypopigmentation of hair, Piebald skin depigmentation, Heterochromia ... ORPHA:2884
Angelman Syndrome Due To Paternal Uniparental Disomy Of Chromosome 15
Gait imbalance, Hypopigmentation of hair, Broad-based gait, Bilateral tonic-clonic seizure with g... ORPHA:98795
Blue Rubber Bleb Nevus
Prolonged bleeding time, Skin rash, Microcytic anemia, Intestinal bleeding ORPHA:1059
Congenital Disorder Of Glycosylation, Type Iio
Cholestatic liver disease, Cirrhosis, Hepatomegaly, Decreased circulating ceruloplasmin concentra... OMIM:616828
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion
Gait imbalance, Hypopigmentation of hair, Broad-based gait, Seizure, Tremor, Hypopigmentation of ... ORPHA:98794
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities
Macrocytic anemia, Impaired platelet aggregation, Poikilocytosis, Bone marrow hypocellularity, El... OMIM:300835
Spastic Paraplegia And Psychomotor Retardation With Or Without Seizures
Generalized myoclonic seizure, Inability to walk, Retinal dystrophy, Broad-based gait, Lower limb... OMIM:616756
Burkitt Lymphoma
Abnormal lymph node morphology, Hyperuricemia, Decreased proportion of CD4-positive helper T cell... ORPHA:543
Immunodeficiency 16
Coombs-positive hemolytic anemia, Splenomegaly, Pancytopenia OMIM:615593
Follicular Lymphoma
Splenomegaly, Mediastinal lymphadenopathy, Lymphadenopathy, Abnormal peritoneum morphology ORPHA:545
Beta-Thalassemia, Dominant Inclusion Body Type
Hepatomegaly, Decreased mean corpuscular hemoglobin concentration, Persistence of hemoglobin F, E... OMIM:603902
Pulmonary Capillary Hemangiomatosis
Pulmonary edema, Pulmonary capillary hemangiomatosis, Pedal edema, Abnormal pulmonary vein morpho... ORPHA:199241
Immunodeficiency 62
Recurrent lower respiratory tract infections, Complete or near-complete absence of specific antib... OMIM:618459
Immunodeficiency 11B With Atopic Dermatitis
Pneumonia, Increased circulating IgE level, Atopic dermatitis, Eosinophilia, Colonic eosinophilia... OMIM:617638
Oculocutaneous Albinism Type 5
Abnormal fundus morphology, Hypoplasia of the fovea, Ocular albinism ORPHA:370091
Mu-Heavy Chain Disease
Hepatomegaly, Anemia, Lymphadenopathy, Splenomegaly, Abnormal B cell count ORPHA:100024
3-Methylglutaconic Aciduria, Type Viib
Prolonged prothrombin time, 3-Methylglutaconic aciduria, Abnormal bleeding, Polyhydramnios, Hyper... OMIM:616271
Infantile Osteopetrosis With Neuroaxonal Dysplasia
Pneumonia, Conductive hearing impairment, Seizure ORPHA:85179
Erythroleukemia, Familial, Susceptibility To
Hepatomegaly, Anemia, Acute myeloid leukemia, Thrombocytopenia, Splenomegaly, Erythroid hyperplas... OMIM:133180
Diarrhea 13
Hypoalbuminemia, Hepatic steatosis OMIM:620357
Immunodeficiency 7
Autoimmune hemolytic anemia, Hepatomegaly, Lymphadenopathy, Patchy alopecia, Vitiligo, Splenomega... OMIM:615387
Idiopathic Achalasia
Bronchitis, Recurrent aspiration pneumonia, Weight loss ORPHA:930
Chorea, Childhood-Onset, With Psychomotor Retardation
Chorea, Abnormal head movements, Involuntary movements OMIM:616939
Splenoportal Vascular Anomalies
Cirrhosis, Anomalous splenoportal venous system, Ascites, Hyperammonemia, Splenomegaly, Hepatic f... OMIM:271500
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta
Chronic oral candidiasis, Increased circulating antibody level, Failure to thrive secondary to re... ORPHA:169160
Ciliary Dyskinesia, Primary, 21
Recurrent otitis media, Atelectasis, Recurrent pneumonia, Bronchiectasis, Chronic sinusitis OMIM:615294
Simpson-Golabi-Behmel Syndrome, Type 2
Recurrent lower respiratory tract infections, Low-set ears, Obesity, Recurrent upper respiratory ... OMIM:300209
Niemann-Pick Disease, Type B
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Sea-blue histiocytosis, Anemia, He... OMIM:607616
Neonatal Ichthyosis-Sclerosing Cholangitis Syndrome
Jaundice, Hepatomegaly, Scarring alopecia of scalp, Cholestasis, Sparse scalp hair, Portal hypert... ORPHA:59303
Oculocutaneous Albinism Type 2
Blue irides, Iris transillumination defect, Hypopigmentation of hair, Hyperpigmented nevi, Hypopi... ORPHA:79432
Lipodystrophy, Congenital Generalized, Type 3
Hypertriglyceridemia, Hepatomegaly, Hypercholesterolemia, Hypocalcemia, Hirsutism, Hepatosplenome... OMIM:612526
Waardenburg-Shah Syndrome
Premature graying of hair, Hypopigmentation of hair, Synophrys, White forelock, Abnormal eyebrow ... ORPHA:897
Lymphoproliferative Syndrome 3
Reduced natural killer cell count, Hepatosplenomegaly, Lymphadenopathy OMIM:618261
Immunodeficiency 99 With Hypogammaglobulinemia And Autoimmune Cytopenias
Lymphadenopathy, Decreased proportion of class-switched memory B cells, Lymphopenia, Vitiligo, De... OMIM:619846
Riddle Syndrome
Bronchitis, Recurrent sinusitis, Ataxia, Clumsiness, Enuresis nocturna, Recurrent pneumonia, Weig... ORPHA:420741
Pneumothorax, Scleritis, Emphysema, Pleuritis, Thyroiditis, Seizure, Chorioretinitis, Pleural eff... ORPHA:31204
Rajab Interstitial Lung Disease With Brain Calcifications 2
Hypertriglyceridemia, Hepatosplenomegaly, Hypoalbuminemia, Hepatic steatosis, Microcytic anemia OMIM:619013
Cirrhotic Cardiomyopathy
Pulmonary edema, Abnormal bleeding, Conjunctival icterus, Ascites, Peripheral edema ORPHA:57777
Lujo Hemorrhagic Fever
Skin rash, Cerebral edema, Leukopenia, Lymphopenia, Oliguria, Excessive bleeding after a venipunc... ORPHA:319213
Ciliary Dyskinesia, Primary, 29
Bronchiectasis, Recurrent respiratory infections, Decreased circulating antibody level, Atelectasis OMIM:615872
Hyperactivity, Generalized hypopigmentation, Hyperphenylalaninemia, Compulsive behaviors, Materna... OMIM:261600
Immunodeficiency 102
Recurrent sinusitis, Leukopenia, Increased proportion of CD8-positive, alpha-beta TEMRA T cells, ... OMIM:301082
Lymphoproliferative Syndrome 1
Autoimmune hemolytic anemia, Hepatomegaly, Anemia, Hemophagocytosis, Lymphadenopathy, Pancytopeni... OMIM:613011
Familial Isolated Restrictive Cardiomyopathy
Peripheral edema, Pulmonary edema, Recurrent respiratory infections ORPHA:75249
Galactosemia Iii
Hypergalactosemia, Jaundice, Splenomegaly, Hepatomegaly OMIM:230350
Immunodeficiency, Common Variable, 2
Recurrent otitis media, Partial absence of specific antibody response to unconjugated pneumococcu... OMIM:240500
Loeys-Dietz Syndrome 4
Pneumothorax, Tall stature, Emphysema, Torticollis, Eosinophilic infiltration of the esophagus, E... OMIM:614816
Phip-Related Behavioral Problems-Intellectual Disability-Obesity-Dysmorphic Features Syndrome
Recurrent otitis media, Seizure, Increased body weight, Gait disturbance, Synophrys, Cafe-au-lait... ORPHA:589905
Citrullinemia Type Ii
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Hepatomegaly, Pancreatitis, Abnorm... ORPHA:247585
X-Linked Sideroblastic Anemia
Abnormality of iron homeostasis, Anemia, Splenomegaly, Hyperpigmentation of the skin ORPHA:75563
Isolated Congenital Hypoglossia/Aglossia
Aspiration pneumonia, Weight loss ORPHA:141152
Microcephaly-Albinism-Digital Anomalies Syndrome
Iris hypopigmentation, Hypopigmentation of the skin ORPHA:2513
Hemophilia B
Cephalohematoma, Hematuria, Spontaneous, recurrent epistaxis, Delayed onset bleeding, Joint hemor... ORPHA:98879
Anemia, Sideroblastic, 3, Pyridoxine-Refractory
Cirrhosis, Jaundice, Anemia, Hepatomegaly, Hypochromia, Elevated hepatic iron concentration, Anis... OMIM:616860
Familial Cold Autoinflammatory Syndrome 2
Lymphadenopathy, Leukocytosis, Splenomegaly, Elevated circulating C-reactive protein concentration OMIM:611762
Pseudohypoparathyroidism Type 1A
Elevated circulating parathyroid hormone level, Low urinary cyclic AMP response to PTH administra... ORPHA:79443
Mitochondrial Complex Iv Deficiency, Nuclear Type 5
Pulmonary edema, Hypospadias, Highly arched eyebrow, Truncal ataxia, Seizure, Hirsutism, Generali... OMIM:220111
Immunodeficiency 64 With Lymphoproliferation
Autoimmune hemolytic anemia, Defective T cell proliferation, Recurrent lower respiratory tract in... OMIM:618534
Mitochondrial Complex I Deficiency, Nuclear Type 33
Optic atrophy, Hypospadias, Seizure, Spasticity, Aspiration pneumonia, Loss of ambulation, Sparse... OMIM:618253
Immunodeficiency 109 With Lymphoproliferation
Recurrent lower respiratory tract infections, Pancytopenia, Complete or near-complete absence of ... OMIM:620282
Mitochondrial Complex Iv Deficiency, Nuclear Type 20
Hepatomegaly, Hyperalaninemia, Long eyelashes, Synophrys, Cardiomegaly, Hyperprolinemia OMIM:619064
Muscular Hypertonia, Lethal
Pneumonia, Hypertonia OMIM:254120
Immunodeficiency, Common Variable, 12, With Autoimmunity
Autoimmune hemolytic anemia, Decreased circulating antibody level, Recurrent pneumonia, Thrombocy... OMIM:616576
Chronic otitis media, Decreased proportion of CD3-positive T cells, Sensorineural hearing impairm... ORPHA:443811
Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15
Decreased circulating inhibin B concentration, Hypopigmentation of hair, Impaired temperature sen... ORPHA:98754
Hemolytic Disease Of Fetus And Newborn, Rh-Induced
Fetal ascites, Hepatomegaly, Splenomegaly OMIM:619462
Fish-Eye Disease
Splenomegaly, Hepatomegaly, Lymphadenopathy, Decreased HDL cholesterol concentration ORPHA:79292
Fanconi Anemia, Complementation Group F
Polyhydramnios, Anemia, Hyperpigmentation of the skin, Pelvic kidney, Microtia, Vesicoureteral re... OMIM:603467
Cutis Laxa, Autosomal Recessive, Type Ic
Multiple bladder diverticula, Emphysema, Atelectasis, Accessory spleen, Ascites, Hypoplasia of th... OMIM:613177
Oculocutaneous Albinism Type 1B
Hypopigmentation of hair, Hypopigmentation of the skin, Iris hypopigmentation, Abnormality of ret... ORPHA:79434
Combined Immunodeficiency Due To Dock8 Deficiency
Chronic otitis media, B lymphocytopenia, Increased circulating IgE level, Recurrent bacterial ski... ORPHA:217390
Mucopolysaccharidosis-Plus Syndrome
Enlarged kidney, Hepatomegaly, Macrovesicular hepatic steatosis, Anemia, Hirsutism, Low posterior... OMIM:617303
Facioscapulohumeral Muscular Dystrophy 3, Digenic
Aspiration pneumonia OMIM:619477
Rigid Spine Syndrome
Pneumonia, Waddling gait ORPHA:97244
Trichohepatoenteric Syndrome 1
Cholestasis, Pulmonic stenosis, Splenomegaly, Sparse hair, Fine hair, Jaundice, Brittle hair, Woo... OMIM:222470
Glycogen Storage Disease Of Heart, Lethal Congenital
Pulmonary edema, Enlarged kidney, Seizure, Pleural effusion, Ascites, Cataract, Pericardial effus... OMIM:261740
Aplasia Cutis Congenita
Prolonged bleeding time ORPHA:1114
Liver Disease, Severe Congenital
Nail dystrophy, Lymphocytosis, Ascites, Leukopenia, Splenomegaly, Hypospadias, Chronic gastritis,... OMIM:619991
Anemia, Splenomegaly, Neutropenia OMIM:602079
Hepatomegaly, Hyperpigmentation of the skin, Reticulocytosis, Prolonged neonatal jaundice, Spleno... OMIM:618892
Cutis Laxa, Autosomal Recessive, Type Ia
Emphysema, Overgrowth, Bladder diverticulum, Recurrent respiratory infections, Peripheral pulmona... OMIM:219100
Factor V Deficiency
Prolonged prothrombin time, Abnormal bleeding, Menorrhagia, Epistaxis, Bruising susceptibility, P... OMIM:227400
Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion
Decreased circulating inhibin B concentration, Hypopigmentation of hair, Impaired temperature sen... ORPHA:98793
Lmna-Related Cardiocutaneous Progeria Syndrome
Premature graying of hair, Emphysema, Absent eyelashes, Absent eyebrow, Papillary renal cell carc... ORPHA:363618
Carnitine Palmitoyltransferase Ii Deficiency, Infantile
Hepatomegaly, Macrovesicular hepatic steatosis, Elevated circulating creatine kinase concentratio... OMIM:600649
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2
Decreased circulating inhibin B concentration, Hypopigmentation of hair, Impaired temperature sen... ORPHA:177904
Ras-Associated Autoimmune Leukoproliferative Disorder
Hepatomegaly, Pancytopenia, Lymphocytosis, Splenomegaly, Hemolytic anemia, Autoimmune thrombocyto... OMIM:614470
Nephrotic Syndrome, Type 7
Hypoalbuminemia, Thrombocytopenia, Hemolytic anemia OMIM:615008
Idiopathic Chronic Eosinophilic Pneumonia
Hypersensitivity pneumonitis, Atelectasis, Increased circulating IgE level, Pleural effusion, Leu... ORPHA:2902
Wyburn-Mason Syndrome
Retinal vascular malformation, Seizure, Gingival bleeding, Cerebral palsy, Hearing impairment, Ir... ORPHA:53719
Episodic Ataxia Type 4
Vertigo, Incoordination, Frequent falls, Ataxia, Abnormal head movements ORPHA:79136
Transcobalamin Deficiency
Acute kidney injury, Methylmalonic aciduria, Pancytopenia, Abnormality of chromosome stability, D... ORPHA:859
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 1
Decreased circulating inhibin B concentration, Hypopigmentation of hair, Impaired temperature sen... ORPHA:177901
Tyrosinemia Type 1
Splenomegaly, Hepatomegaly, Hepatocellular carcinoma ORPHA:882
Mohr-Tranebjaerg Syndrome
Optic atrophy, Postlingual sensorineural hearing impairment, Prelingual sensorineural hearing imp... ORPHA:52368
Rajab Interstitial Lung Disease With Brain Calcifications 1
Abnormal pulmonary interstitial morphology, Emphysema, Anemia, Pancytopenia, Recurrent urinary tr... OMIM:613658
Immunodeficiency 72 With Autoinflammation And Lymphoproliferation
Increased B cell count, Hepatosplenomegaly, Lymphadenopathy, Increased proportion of memory T cells OMIM:618982
Hemoglobin C-Beta-Thalassemia Syndrome
Splenomegaly, Anemia, Microcytic anemia, Abnormal hemoglobin ORPHA:231242
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss
Jaundice, Hypocalcemia, Elevated circulating gamma-aminobutyric acid concentration, Cholestasis, ... OMIM:619658
Leukocyte Adhesion Deficiency, Type Iii
Hepatomegaly, Abnormal lymph node morphology, Anemia, Leukocytosis, Hepatosplenomegaly, Splenomeg... OMIM:612840
Alpha-Mannosidosis, Adult Form
Mixed hearing impairment, Pancytopenia, Clumsiness, Corneal opacity, Cataract, Ataxia, Hepatosple... ORPHA:309288
Congenital Disorder Of Glycosylation, Type Il
Hepatomegaly, Ascites, Hypocholesterolemia, Pericardial effusion, Splenomegaly, Hypoalbuminemia, ... OMIM:608776
Histiocytoid Cardiomyopathy
Optic atrophy, Pulmonary edema, Seizure, Corneal opacity, Congenital aphakia, Renal cyst, Megaloc... ORPHA:137675
Immunodeficiency 103, Susceptibility To Fungal Infections
Lymphadenopathy, Abnormal natural killer cell count, Abnormal proportion of CD8-positive T cells,... OMIM:212050
Farber Disease
Corneal opacity, Ascites, Myoclonus, Nodular pattern on pulmonary HRCT, Abnormal conjunctiva morp... ORPHA:333
Anemia, Hypochromic Microcytic, With Iron Overload 2
Hepatomegaly, Anemia, Hypochromia, Cafe-au-lait spot, Sideroblastic anemia, Poikilocytosis, Eleva... OMIM:615234
Tonne-Kalscheuer Syndrome
Hypospadias, Broad-based gait, Small nail, Spasticity, Tremor, Pulmonary hypoplasia, Micropenis, ... OMIM:300978
Combined Immunodeficiency Due To Zap70 Deficiency
Autoimmune hemolytic anemia, Chronic oral candidiasis, Decreased proportion of CD8-positive T cel... ORPHA:911
Bile Acid Synthesis Defect, Congenital, 5
Jaundice, Portal fibrosis, Iron deficiency anemia, Hepatomegaly, Increased serum bile acid concen... OMIM:616278
Obesity And Hypopigmentation
Red hair OMIM:620195
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency
Cirrhosis, Hepatomegaly, Ascites, Portal hypertension, Hepatosplenomegaly, Abnormal cardiomyocyte... ORPHA:367
Meier-Gorlin Syndrome 1
Breast hypoplasia, Incomplete partition of the cochlea type II, Emphysema, Microtia, Low-set ears... OMIM:224690
Focal Segmental Glomerulosclerosis 1
Hypoalbuminemia, Hyperlipidemia, Anemia, Ascites OMIM:603278
Cholestasis-Lymphedema Syndrome
Cirrhosis, Jaundice, Hepatomegaly, Hyperlipidemia, Neonatal cholestatic liver disease, Splenomega... OMIM:214900
Spastic Paraplegia-Severe Developmental Delay-Epilepsy Syndrome
Generalized myoclonic seizure, Difficulty walking, Urinary incontinence, Focal myoclonic seizure,... ORPHA:464282
X-Linked Intellectual Disability-Retinitis Pigmentosa Syndrome
Iris hypopigmentation ORPHA:85332
Gaucher Disease, Atypical, Due To Saposin C Deficiency
Hepatomegaly, Anemia, Thrombocytopenia, Splenomegaly, Hypocholesterolemia, Hypersplenism OMIM:610539
Deaf Blind Hypopigmentation Syndrome, Yemenite Type
Hypopigmented skin patches, Hypertonia, Hypopigmentation of hair, Hyperpigmentation of the skin, ... ORPHA:3214
Immunodeficiency 105
Impaired lymphocyte transformation with phytohemagglutinin, Pancytopenia, B lymphocytopenia, Incr... OMIM:619924
Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type)
Hyperkalemia, Jaundice, Hepatomegaly, Microvesicular hepatic steatosis, Cholestasis, Increased to... OMIM:618528
Immunodeficiency 23
Cortical myoclonus, Increased circulating IgG level, Sensorineural hearing impairment, Increased ... OMIM:615816
Meier-Gorlin Syndrome 6
Emphysema, Stenosis of the external auditory canal, Microtia, Failure to thrive, Conductive heari... OMIM:616835
Primary Intestinal Lymphangiectasia
Peritoneal effusion, Intestinal lymphangiectasia, Anemia, Decreased proportion of CD3-positive T ... ORPHA:90362
Spondylo-Ocular Syndrome
Aplasia/Hypoplasia of the lens, Abnormal antihelix morphology, Retinal detachment, Low-set ears, ... ORPHA:85194
Nephrotic Syndrome, Type 2
Hypoalbuminemia, Hyperlipidemia OMIM:600995
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome
Panhypogammaglobulinemia, Ascites, T lymphocytopenia, Recurrent aspiration pneumonia, Pancytopeni... ORPHA:79124
Oliver-Mcfarlane Syndrome
Hypoplasia of penis, Long eyebrows, Long eyelashes, Sparse hair, Central heterochromia, Retinal d... OMIM:275400
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Enlarged kidney, Hepatomegaly, Anemia, Thrombocytopenia, Splenomegaly, Leukopenia, Extramedullary... OMIM:615285
Progressive Familial Intrahepatic Cholestasis
Jaundice, Hepatomegaly, Hypocalcemia, Cholestasis, Splenomegaly ORPHA:172
Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction
Elevated circulating thyroid-stimulating hormone concentration, Difficulty walking, Atelectasis, ... OMIM:610978
T lymphocytopenia, Sinusitis, Ataxia, Lymphopenia, Myoclonus, Decreased circulating IgG2 level, A... OMIM:208900
Ectodermal Dysplasia-Syndactyly Syndrome 2
Cardiomegaly, Sparse hair OMIM:613576
Classic Pantothenate Kinase-Associated Neurodegeneration
Tip-toe gait, Inability to walk, Seizure, Spasticity, Gait disturbance, Aspiration pneumonia, Opt... ORPHA:216866
Primary Dystonia, Dyt13 Type
Jerky head movements, Torticollis, Involuntary movements, Action tremor, Postural tremor ORPHA:98807
Ogden Syndrome
Hypertonia, Torticollis, Shuffling gait, Low-set ears, Pulmonary artery stenosis, Macrotia, Aplas... ORPHA:276432
Cronkhite-Canada Syndrome
Anorexia, Aplasia/Hypoplasia of the eyebrow, Dystrophic fingernails, Hepatomegaly, Anemia, Dystro... ORPHA:2930
Cholestasis-Lymphedema Syndrome
Cirrhosis, Jaundice, Hepatomegaly, Abnormality of the lymphatic system, Hyperlipidemia, Portal hy... ORPHA:1414
Refractory Celiac Disease
Normocytic anemia, Iron deficiency anemia, Macrocytic anemia, Hypocalcemia, Hypoproteinemia, Incr... ORPHA:398063
Juvenile Neuronal Ceroid Lipofuscinosis
Seizure, Poor fine motor coordination, Poor motor coordination, Aspiration pneumonia, Myoclonic s... ORPHA:79264
Spastic Paraplegia 11, Autosomal Recessive
Spastic gait, Tip-toe gait, Babinski sign, Urinary incontinence, Lower limb spasticity, Macular d... OMIM:604360
Methionine Malabsorption Syndrome
Blue irides, White hair OMIM:250900
Systemic-Onset Juvenile Idiopathic Arthritis
Hepatomegaly, Lymphadenopathy, Elevated circulating C-reactive protein concentration, Pericarditi... ORPHA:85414
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Recessive
Cirrhosis, Decreased circulating ceruloplasmin concentration, Decreased circulating copper concen... OMIM:242150
Usher Syndrome Type 2
Abnormality of the inner ear, Sensorineural hearing impairment, Iris hypopigmentation, Ataxia, Ca... ORPHA:231178
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1