Gene Summary

glucosylceramidase beta 1
glucocerebrosidase,  GBA1,  GC,  betaGC,  GCase,  Gba

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
prolonged QRS complex duration Gba1em1(IMPC)H HET Early adult 3.94×10-09
preweaning lethality, complete penetrance Gba1em1(IMPC)H HOM   Early adult 0.00
increased mean platelet volume Gba1em1(IMPC)H HET Early adult 5.41×10-06
increased circulating amylase level Gba1em1(IMPC)H HET Early adult 5.70×10-08

Download data as:  TSV  XLS

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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.

MicroCT E18.5

Embryo reconstruction

4 Images

MicroCT E14.5-E15.5

Embryo reconstruction

5 Images

Human diseases caused by Gba1 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 Gba1 by orthology or direct annotation.

Disease Similarity of
Matching phenotypes Source
Gaucher Disease, Perinatal Lethal
Respiratory distress, Petechiae, Apnea, Hypokinesia, Akinesia, Splenomegaly, Hepatosplenomegaly, ... OMIM:608013
Gaucher Disease, Type Iii
Hepatomegaly, Pancytopenia, Splenomegaly, Decreased beta-glucocerebrosidase level, Decreased body... OMIM:231000
Hereditary Late-Onset Parkinson Disease
Akinesia, Impulsivity, Agitation, Shuffling gait, Dysphagia ORPHA:411602
Gaucher Disease Type 1
Hepatomegaly, Pancytopenia, Hypersplenism, Thrombocytopenia, Osteoarthritis, Splenomegaly, Abnorm... ORPHA:77259
Gaucher Disease Type 2
Respiratory distress, Hepatomegaly, Recurrent respiratory infections, Splenomegaly, Cough, Abnorm... ORPHA:77260
Fetal Gaucher Disease
Hepatomegaly, Pancytopenia, Splenomegaly, Abnormality of the spleen, Stillbirth, Congenital nonbu... ORPHA:85212
Gaucher Disease, Type I
Hepatomegaly, Pancytopenia, Epistaxis, Hypersplenism, Splenomegaly, Dyspnea, Anemia, Hypertension... OMIM:230800
Gaucher Disease, Type Ii
Hepatomegaly, Apnea, Splenomegaly, Anemia, Stridor, Cough, Bronchiolitis, Failure to thrive, Recu... OMIM:230900
Gaucher Disease Type 3
Hepatomegaly, Pancytopenia, Recurrent respiratory infections, Splenomegaly, Abnormal pulmonary in... ORPHA:77261
Dementia, Lewy Body
Lewy bodies OMIM:127750
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome
Spontaneous, recurrent epistaxis, Pancytopenia, Cachexia, Abnormality of the spleen, Thrombocytop... ORPHA:2072
Gaucher Disease, Type Iiic
Splenomegaly, Hepatomegaly, Pancytopenia, Cardiomegaly OMIM:231005
Parkinson Disease, Late-Onset
Lewy bodies, Substantia nigra gliosis OMIM:168600

The table below shows human diseases predicted to be associated to Gba1 by phenotypic similarity.

Disease Similarity of
Matching phenotypes Source
Deoxyribose-5-Phosphate Aldolase Deficiency
Abnormal circulating enzyme concentration or activity OMIM:125460
Lactate Dehydrogenase B Deficiency
Reduced lactate dehydrogenase B level OMIM:614128
Hydroxyacyl Glutathione Hydrolase Deficiency
Glyoxalase deficiency OMIM:614033
Genitourinary Tract Anomalies
Neonatal death OMIM:305690
Granulomas, Congenital Cerebral
Neonatal death OMIM:306300
Erythrokeratodermia Variabilis Et Progressiva 4
Congenital nonbullous ichthyosiform erythroderma, Hyperkeratosis, Erythema, Palmoplantar hyperker... OMIM:617526
Alcohol Sensitivity, Acute
Reduced acetaldehyde dehydrogenase level OMIM:610251
Progressive Symmetric Erythrokeratodermia
Erythema, Palmoplantar keratoderma ORPHA:316
Vibratory Urticaria
Urticaria, Facial erythema, Flushing OMIM:125630
Ichthyosis, Congenital, Autosomal Recessive 14
Erythema, Hyperkeratosis, Orthokeratotic hyperkeratosis, Scaling skin, Congenital nonbullous icht... OMIM:617571
Epidermolysis Bullosa Simplex 4, Localized Or Generalized Intermediate, Autosomal Recessive
Hyperkeratosis, Fragile skin OMIM:615028
Keratosis, Focal Palmoplantar And Gingival
Circumungual hyperkeratosis, Subungual hyperkeratosis, Gingival hyperkeratosis, Focal friction-re... OMIM:148730
Bleeding Disorder, Platelet-Type, 15
Thrombocytopenia, Epistaxis, Platelet anisocytosis, Increased mean platelet volume OMIM:615193
Palmoplantar Keratoderma, Nonepidermolytic, Focal 1
Perioral hyperkeratosis, Palmoplantar keratoderma, Follicular hyperkeratosis, Congenital bullous ... OMIM:613000
Porokeratosis Of Mibelli
Hyperkeratosis, Cutaneous photosensitivity, Porokeratosis ORPHA:735
Erythrokeratodermia Variabilis Et Progressiva 2
Erythema, Palmoplantar keratoderma OMIM:617524
Ectodermal dysplasia, Dry skin, Thin skin OMIM:125640
Cutaneous Photosensitivity And Colitis, Lethal
Early cutaneous photosensitivity, Death in infancy, Erythema OMIM:219095
Ichthyosis, Congenital, Autosomal Recessive 13
Ichthyosis, Hyperkeratosis, Hypergranulosis, Palmoplantar hyperkeratosis OMIM:617574
Porokeratosis Plantaris Palmaris Et Disseminata
Hyperkeratotic papule, Porokeratosis, Generalized abnormality of skin, Palmoplantar hyperkeratosis ORPHA:737
Ichthyosis, Congenital, Autosomal Recessive 8
Hypergranulosis, Erythema, Hyperkeratosis, Ichthyosis, Orthokeratosis OMIM:613943
Non-Epidermolytic Palmoplantar Keratoderma
Diffuse palmoplantar hyperkeratosis, Erythema, Skin ulcer ORPHA:2337
Ichthyosis, Annular Epidermolytic, 2
Erythema, Palmoplantar hyperkeratosis, Palmoplantar keratoderma, Scaling skin, Ichthyosis, Orthok... OMIM:620148
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency
Abnormal T cell count, Lymphadenitis, Decreased proportion of CD3-positive T cells, Decreased cir... ORPHA:331206
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia
Generalized lymphadenopathy, Lymphadenitis, Leukopenia, T lymphocytopenia, Neutropenia, Decreased... OMIM:618986
Lymphoproliferative Syndrome, X-Linked, 2
Hepatomegaly, Pancytopenia, Hypertriglyceridemia, Acne, Recurrent skin infections, Aplastic anemi... OMIM:300635
Hyperkeratosis-Hyperpigmentation Syndrome
Hyperkeratosis, Cutaneous photosensitivity ORPHA:1336
Reduced catalase level OMIM:614097
Thickened skin, Premature skin wrinkling, Progeroid facial appearance OMIM:221790
Urticaria, Aquagenic
Urticaria OMIM:191850
Urticaria, Familial Localized Heat
Urticaria OMIM:191950
Angioma Serpiginosum
Erythema, Vascular skin abnormality ORPHA:95429
Thrombophilia Due To Thrombomodulin Defect
Pulmonary embolism OMIM:614486
Thrombocytopenia 4
Abnormal platelet volume, Thrombocytopenia OMIM:612004
Immunodeficiency 27A
Increased inflammatory response, Abnormal bronchus physiology, Pneumonia, Splenomegaly, Leukocyto... OMIM:209950
Dermatofibrosarcoma Protuberans
Thickened skin, Erythema, Skin ulcer ORPHA:31112
Epidermolysis Bullosa Simplex 2E, With Migratory Circinate Erythema
Erythema migrans OMIM:609352
Erythema Palmare Hereditarium
Erythema OMIM:133000
Benign Chronic Pemphigus
Erythema OMIM:169600
Annular Erythema
Erythema OMIM:106500
Combined Immunodeficiency Due To Zap70 Deficiency
Recurrent bacterial skin infections, Autoimmune hemolytic anemia, Skin rash, Pneumonia, Eosinophi... ORPHA:911
Bleeding Disorder, Platelet-Type, 16
Thrombocytopenia, Giant platelets, Macrothrombocytopenia, Platelet anisocytosis, Impaired platele... OMIM:187800
Mal De Meleda
Congenital symmetrical palmoplantar keratosis, Perioral erythema, Ichthyosis OMIM:248300
Thrombophilia, X-Linked, Due To Factor Viii Defect
Pulmonary embolism OMIM:301071
Uv-Sensitive Syndrome 3
Cutaneous photosensitivity, Dry skin, Telangiectasia OMIM:614640
Antithrombin Iii Deficiency
Arterial occlusion, Pulmonary embolism OMIM:613118
Cephalin Lipidosis
Abnormality of the spleen OMIM:212800
Hereditary Palmoplantar Keratoderma, Gamborg-Nielsen Type
Hyperkeratosis with erythema, Diffuse palmoplantar hyperkeratosis ORPHA:86923
Palmoplantar Keratoderma, Punctate Type Iii
Hyperkeratosis, Acrokeratosis OMIM:101850
Macrothrombocytopenia, Isolated, 2, Autosomal Dominant
Macrothrombocytopenia OMIM:619840
Hyperkeratosis, Thickened skin ORPHA:1659
Thrombophilia Due To Thrombin Defect
Pulmonary embolism OMIM:188050
Ichthyosis Hystrix, Lambert Type
Hyperkeratosis, Orthokeratotic hyperkeratosis OMIM:146600
Orthostatic Hypotensive Disorder, Streeten Type
Bruising susceptibility, Facial erythema OMIM:143850
Acral Self-Healing Collodion Baby
Localized epidermolytic hyperkeratosis, Palmoplantar scaling skin, Erythema, Lack of skin elasticity ORPHA:281127
Granulomatous Disease, Chronic, Autosomal Recessive, 5
Hemolytic anemia, Acute pancreatitis, Eczema, Abscess, Perianal abscess, Lymphadenitis, Splenomeg... OMIM:618935
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome
Hemolytic anemia, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Respiratory tract inf... ORPHA:444463
Keratolytic Winter Erythema
Erythema OMIM:148370
Bleeding Disorder, Platelet-Type, 24
Increased mean platelet volume, Thrombocytopenia, Impaired ADP-induced platelet aggregation, Plat... OMIM:619271
Erythrokeratodermia Variabilis Et Progressiva 3
Hypergranulosis, Erythema, Hyperkeratosis, Palmoplantar keratoderma, Orthokeratosis OMIM:617525
Giant platelet syndrome with thrombocytopenia
Gastrointestinal hemorrhage, Giant platelets, Thrombocytopenia OMIM:137560
Palmoplantar Keratoderma And Congenital Alopecia 2
Palmoplantar hyperkeratosis, Facial erythema, Hyperkeratosis, Dry skin, Sclerodactyly OMIM:212360
Ichthyosis, Annular Epidermolytic, 1
Hyperparakeratosis, Erythema, Palmoplantar hyperkeratosis, Ichthyosis, Scaling skin, Congenital b... OMIM:607602
Peeling Skin Syndrome 2
Erythema, Scaling skin OMIM:609796
Immunodeficiency 64 With Lymphoproliferation
Increased proportion autoreactive unresponsive CD21-/low B cells, Decreased proportion of CD4-pos... OMIM:618534
Erythema Nodosum, Familial
Erythema OMIM:132990
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency
Elevated hepatic transaminase, Hepatomegaly, Elevated circulating creatine kinase concentration, ... OMIM:615895
Immunodeficiency 78 With Autoimmunity And Developmental Delay
Autoimmune hemolytic anemia, Fluctuating splenomegaly, Autoimmune thrombocytopenia, Bronchiectasi... OMIM:619220
Glycine N-Methyltransferase Deficiency
Elevated hepatic transaminase, Hepatomegaly OMIM:606664
Macrophage Activation Syndrome
Increased circulating interleukin 6 concentration, Elevated circulating C-reactive protein concen... ORPHA:158061
Platelet Glycoprotein Iv Deficiency
Giant platelets, Thrombocytopenia OMIM:608404
Hereditary Thrombophilia Due To Congenital Antithrombin Deficiency
Portal vein thrombosis, Pulmonary embolism ORPHA:82
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity
Hepatomegaly, Autoimmune hemolytic anemia, Failure to thrive, Recurrent respiratory infections, L... OMIM:618495
Immunodeficiency 51
Recurrent respiratory infections, Recurrent skin infections, Eczema, Pneumonia, Abnormal lymphocy... OMIM:613953
Peeling Skin Syndrome 3
Erythema, White scaling skin OMIM:616265
Erythema Of Acral Regions
Erythema OMIM:227000
Ulerythema Ophryogenesis
Dry skin, Hyperkeratotic papule, Follicular hyperkeratosis, Facial erythema ORPHA:3406
Familial Benign Chronic Pemphigus
Skin vesicle, Hyperkeratosis, Erythema, Acantholysis ORPHA:2841
Superficial Epidermolytic Ichthyosis
Edema, Acantholysis, Erythema, Palmoplantar keratoderma, Thin skin, Ichthyosis ORPHA:455
Mastocytosis, Cutaneous
Urticaria, Erythema, Telangiectasia macularis eruptiva perstans OMIM:154800
Anonychia With Flexural Pigmentation
Dry skin OMIM:106750
Ichthyosis, Lamellar, Autosomal Dominant
Hyperkeratosis, Congenital nonbullous ichthyosiform erythroderma OMIM:146750
Thrombocytopenia With Beta-Thalassemia, X-Linked
Hemolytic anemia, Reticulocytosis, Increased RBC distribution width, Epistaxis, Reduced platelet ... OMIM:314050
Cutis Laxa, Autosomal Dominant 2
Premature skin wrinkling, Cutis laxa OMIM:614434
Hemophagocytic Lymphohistiocytosis, Familial, 4
Hepatomegaly, Hypertriglyceridemia, Skin rash, Increased circulating ferritin concentration, Jaun... OMIM:603552
Ichthyosis Hystrix, Curth-Macklin Type
Hyperkeratotic papule, Scaling skin, Palmoplantar keratoderma, Fragile skin OMIM:146590
Immunodeficiency 104
Hepatomegaly, Pneumonia, Eczema, Splenomegaly, Chronic mucocutaneous candidiasis, Lymphadenopathy... OMIM:608971
Acquired Ichthyosis
Erythema, Hyperkeratosis, Palmoplantar keratoderma, Ichthyosis, Dry skin ORPHA:454
Diaph1-Related Sensorineural Hearing Loss-Thrombocytopenia Syndrome
Iron deficiency anemia, Thrombocytopenia, Increased mean platelet volume, Neutropenia ORPHA:494444
Palmoplantar Keratoderma, Nagashima Type
Orthokeratotic hyperkeratosis, Hypergranulosis, Palmoplantar hyperkeratosis OMIM:615598
Mal De Meleda
Ichthyosis, Erythema, Nonepidermolytic palmoplantar hyperkeratosis, Palmoplantar keratoderma ORPHA:87503
Niemann-Pick Disease, Type B
Hepatomegaly, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Recurrent respirator... OMIM:607616
Cutaneous Collagenous Vasculopathy
Prominent superficial blood vessels, Erythema, Diffuse telangiectasia, Bruising susceptibility, V... ORPHA:280779
Amyloidosis, Primary Localized Cutaneous, 3
Cutaneous photosensitivity, Dry skin OMIM:617920
Granulomatous Disease, Chronic, Autosomal Recessive, 1
Recurrent bacterial skin infections, Hepatomegaly, Liver abscess, Osteomyelitis, Discoid lupus ra... OMIM:233700
Granulomatous Disease, Chronic, Autosomal Recessive, 2
Recurrent bacterial skin infections, Hepatomegaly, Liver abscess, Osteomyelitis, Discoid lupus ra... OMIM:233710
Pseudo-Torch Syndrome 3
Apnea, Cardiomegaly, Increased circulating ferritin concentration, Leukocytosis, Lymphadenitis, R... OMIM:618886
Palmoplantar Keratoderma-Deafness Syndrome
Hyperkeratosis, Palmoplantar keratoderma ORPHA:2202
Acrokeratosis Verruciformis
Hyperkeratosis, Punctate palmoplantar hyperkeratosis, Acrokeratosis OMIM:101900
Acral Peeling Skin Syndrome
Excessive wrinkling of palmar skin, Erythema, Scaling skin, Ichthyosis ORPHA:263534
Jessner Lymphocytic Infiltration Of The Skin
Cutaneous photosensitivity, Erythema ORPHA:33314
Selective Igm Deficiency
Fasciitis, Lymphadenitis, Paraproteinemia, Recurrent cutaneous fungal infections, Decreased propo... ORPHA:331235
Granulomatous Disease, Chronic, Autosomal Recessive, 4
Recurrent bacterial skin infections, Hepatomegaly, Liver abscess, Osteomyelitis, Discoid lupus ra... OMIM:233690
Heparin-Induced Thrombocytopenia
Pulmonary embolism, Cerebral ischemia, Myocardial infarction, Autoimmune thrombocytopenia ORPHA:3325
Immunodeficiency With Hyper-Igm, Type 1
Decreased circulating IgE, Neutropenia, Decreased circulating IgG level, Hepatomegaly, Hemolytic ... OMIM:308230
Palmoplantar Keratoderma, Norrbotten Recessive Type
Hyperkeratosis, Palmoplantar keratoderma OMIM:244850
Immunodeficiency 72 With Autoinflammation And Lymphoproliferation
Herpes simplex encephalitis, Increased circulating IgE level, Bronchiectasis, Hepatosplenomegaly,... OMIM:618982
Krt1-Related Diffuse Nonepidermolytic Keratoderma
Diffuse palmoplantar hyperkeratosis, Nonepidermolytic palmoplantar hyperkeratosis, Erythema, Palm... ORPHA:530838
Porokeratosis 2, Palmar, Plantar, And Disseminated Type
Plantar telangiectasia, Porokeratosis, Palmar telangiectasia OMIM:175850
Congenital Ichthyosis-Microcephalus-Tetraplegia Syndrome
Dry skin ORPHA:2271
Uv-Sensitive Syndrome 1
Cutaneous photosensitivity, Dry skin, Telangiectasia OMIM:600630
Macrothrombocytopenia And Granulocyte Inclusions With Or Without Nephritis Or Sensorineural Hearing Loss
Leukocyte inclusion bodies, Epistaxis, Myocardial infarction, Impaired ADP-induced platelet aggre... OMIM:155100
Idiopathic Localized Lipodystrophy
Reduced subcutaneous adipose tissue, Erythema, Scaling skin, Scleroderma, Morphea ORPHA:90158
Granulomatous Disease, Chronic, X-Linked
Recurrent bacterial skin infections, Hepatomegaly, Liver abscess, Osteomyelitis, Discoid lupus ra... OMIM:306400
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Hypertriglyceridemia, Increased circulating ferritin concentration, Splenomegaly, Recurrent upper... OMIM:613101
Hyperkeratosis Lenticularis Perstans
Hyperkeratosis lenticularis perstans OMIM:144150
Angioma Serpiginosum, Autosomal Dominant
Hyperkeratosis OMIM:106050
Papillomatosis, Confluent And Reticulated
Hyperkeratosis OMIM:167900
Elevated hepatic transaminase, Hepatomegaly, Pancytopenia, Abnormal macrophage morphology, Thromb... ORPHA:507
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency
Decreased proportion of naive T cells, Recurrent cutaneous fungal infections, Increased circulati... ORPHA:276
Aquagenic Palmoplantar Keratoderma
Orthokeratotic hyperkeratosis, Excessive skin wrinkling on dorsum of hands and fingers, Palmoplan... ORPHA:498359
Brugada Syndrome
Tachycardia, Cardiac arrest, First degree atrioventricular block, Trifascicular block, ST segment... ORPHA:130
Dowling-Degos Disease 2
Hyperkeratotic papule, Follicular hyperkeratosis OMIM:615327
Peeling Skin Syndrome 5
Hyperkeratosis, Scaling skin OMIM:617115
Pulmonary Hypoplasia, Primary
Neonatal death OMIM:265430
Lymphoproliferative Syndrome, X-Linked, 1
Aplastic anemia, Elevated circulating C-reactive protein concentration, Fulminant hepatitis, Hypo... OMIM:308240
Thrombophilia Due To Protein C Deficiency, Autosomal Dominant
Pulmonary embolism OMIM:176860
Incessant Infant Ventricular Tachycardia
Wolff-Parkinson-White syndrome, Bundle branch block, Prolonged QRS complex, Cardiac arrest, Conge... ORPHA:45453
Progressive Familial Heart Block, Type Ia
Sudden cardiac death, Left posterior fascicular block, Right bundle branch block, Syncope, Prolon... OMIM:113900
Fetal Cytomegalovirus Syndrome
Splenomegaly, Hepatomegaly, Anemia ORPHA:294
Epidermolysis Bullosa Simplex 1C, Localized
Hyperkeratosis OMIM:131800
X-Linked Agammaglobulinemia
Recurrent cutaneous abscess formation, Sinusitis, Osteomyelitis, Skin rash, Abnormality of the to... ORPHA:47
Atrial Septal Defect-Atrioventricular Conduction Defects Syndrome
Bundle branch block, Arrhythmia ORPHA:1479
Abnormal circulating carbohydrate concentration, Abnormality of circulating enzyme level ORPHA:2843
Epidermolytic Hyperkeratosis 2
Palmoplantar hyperkeratosis, Hyperkeratosis, Cobblestone-like hyperkeratosis, Palmoplantar kerato... OMIM:620150
Gaucher Disease, Atypical, Due To Saposin C Deficiency
Hepatomegaly, Hypersplenism, Splenomegaly, Anemia, Hypocholesterolemia, Thrombocytopenia OMIM:610539
Reticulate Acropigmentation Of Kitamura
Hyperkeratosis OMIM:615537
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta
Decreased circulating IgG level, Chronic oral candidiasis, Pneumonia, Eosinophilia, Recurrent pne... ORPHA:169160
Adult-Onset Still Disease
Elevated hepatic transaminase, Hepatomegaly, Pericarditis, Neutrophilia, Skin rash, Generalized l... ORPHA:829
Ichthyosis, Congenital, Autosomal Recessive 10
Hypergranulosis, Hyperkeratosis, Orthokeratotic hyperkeratosis, Palmoplantar keratoderma, General... OMIM:615024
Immunodeficiency 48
Hepatomegaly, Failure to thrive, Recurrent respiratory infections, Pneumonia, Absence of CD8-posi... OMIM:269840
Premature skin wrinkling, Cutis laxa ORPHA:228240
Ceroid storage disease
Abnormality of the spleen, Hepatic failure OMIM:214200
Immunodeficiency 97 With Autoinflammation
Decreased proportion of CD8-positive, alpha-beta TEMRA T cells, Colitis, Decreased circulating Ig... OMIM:619802
Combined Oxidative Phosphorylation Deficiency 16
Microvesicular hepatic steatosis, Hypertrophic cardiomyopathy, Elevated circulating alanine amino... OMIM:615395
Tooth Agenesis, Selective, 8
Dry skin OMIM:617073
Familial Progressive Cardiac Conduction Defect
Bundle branch block, Heart block, Congestive heart failure, Syncope, Arrhythmia ORPHA:871
Caspase 8 Deficiency
Decreased circulating IgG level, Recurrent sinopulmonary infections, Complete or near-complete ab... OMIM:607271
Cardiomyopathy, Dilated, 1U
Increased left ventricular end-diastolic volume, First degree atrioventricular block, Congestive ... OMIM:613694
Erosive Pustular Dermatosis Of The Scalp
Erythema ORPHA:222
Autoimmune Lymphoproliferative Syndrome, Type Iii
Increased proportion autoreactive unresponsive CD21-/low B cells, Generalized lymphadenopathy, El... OMIM:615559
Ventricular Tachycardia, Familial
Right bundle branch block, Cardiomyopathy, Paroxysmal ventricular tachycardia, Sudden cardiac death OMIM:192605
Immunodeficiency 95
Respiratory distress, Recurrent respiratory infections, Lymphopenia, Decreased circulating IgG3 l... OMIM:619773
Hyper-Igd Syndrome
Neutrophilia, Skin rash, Increased circulating IgA level, Lymphadenitis, Leukocytosis, Splenomega... OMIM:260920
Keratolytic Winter Erythema
Erythema ORPHA:50943
Immunodeficiency 32B
Hepatomegaly, Recurrent respiratory infections, Sinusitis, Neutrophilia, Pneumonia, Eosinophilia,... OMIM:226990
Immunodeficiency 52
Decreased proportion of CD4-positive T cells, Failure to thrive, Autoimmune thrombocytopenia, Spl... OMIM:617514
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 2
Right bundle branch block, Elevated circulating creatine kinase concentration OMIM:613158
Immunodeficiency 53
Impaired lymphocyte transformation with phytohemagglutinin, Neutrophilia, Skin rash, Asthma, Recu... OMIM:617585
Angioma, Tufted
Vascular skin abnormality OMIM:607859
Autoimmune Lymphoproliferative Syndrome
Hepatomegaly, Autoimmune hemolytic anemia, Eosinophilia, Chronic noninfectious lymphadenopathy, A... OMIM:601859
Erythrokeratodermia Variabilis Et Progressiva 5
Hyperkeratosis, Palmoplantar hyperkeratosis OMIM:617756
Arrhythmogenic Right Ventricular Dysplasia, Familial, 10
Right ventricular cardiomyopathy, Sudden cardiac death, Ventricular tachycardia, Premature ventri... OMIM:610193
Autoimmune Lymphoproliferative Syndrome, Type Iia
Iron deficiency anemia, Increased circulating IgG level, Increased B cell count, Decreased lympho... OMIM:603909
Pressure-Induced Localized Lipoatrophy
Reduced subcutaneous adipose tissue, Erythema ORPHA:90160
Atrophoderma Vermiculata
Erythema, Hyperkeratotic papule, Follicular hyperkeratosis ORPHA:79100
Bundle Branch Block, Familial Isolated Complete Right
Right bundle branch block OMIM:113950
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency
Failure to thrive, Eosinophilia, Autoimmune thrombocytopenia, Increased circulating IgA level, De... ORPHA:169154
Arthrogryposis Multiplex Congenita 6
Death in infancy, Akinesia, Respiratory failure, Death in childhood, Neonatal death OMIM:619334
Griscelli Syndrome
Hepatomegaly, Abnormality of neutrophils, Splenomegaly, Jaundice, White hair, Silver-gray hair, H... ORPHA:381
Severe Combined Immunodeficiency, X-Linked
Impaired lymphocyte transformation with phytohemagglutinin, Hepatomegaly, Decreased circulating I... OMIM:300400
Progressive Familial Heart Block, Type Ib
Prolonged QT interval, Shortened PR interval, Atrioventricular block, Right bundle branch block, ... OMIM:604559
Hernia, Anterior Diaphragmatic
Neonatal death OMIM:306950
Autoinflammation With Arthritis And Dyskeratosis
Hepatomegaly, Autoimmune hemolytic anemia, Elevated circulating C-reactive protein concentration,... OMIM:617388
Immunodeficiency 24
Decreased circulating IgG level, Decreased CD4:CD8 ratio, Respiratory tract infection, Decreased ... OMIM:615897
Bernard-Soulier Syndrome
Gastrointestinal hemorrhage, Epistaxis, Impaired ristocetin-induced platelet aggregation, Giant p... OMIM:231200
Ichthyosis Vulgaris
Dry skin OMIM:146700
Cardiomyopathy, Dilated, 1Bb
Increased left ventricular end-diastolic volume, Congestive heart failure, Dilated cardiomyopathy... OMIM:612877
Immunodeficiency 68
Recurrent skin infections, Abscess, Lymphadenitis, T lymphocytopenia, B lymphocytopenia, Septic a... OMIM:612260
Drug-Induced Localized Lipodystrophy
Reduced subcutaneous adipose tissue, Erythema ORPHA:90157
Cardiomyopathy, Dilated, 1E
Atrial flutter, Atrial fibrillation, Reduced systolic function, Atrial standstill, Dilated cardio... OMIM:601154
Brugada Syndrome 2
Sudden cardiac death, First degree atrioventricular block, Right bundle branch block, Syncope, Pr... OMIM:611777
Immunodeficiency 109 With Lymphoproliferation
Pancytopenia, Hypertriglyceridemia, Generalized lymphadenopathy, Decreased lymphocyte proliferati... OMIM:620282
Panniculitis-Induced Localized Lipodystrophy
Reduced subcutaneous adipose tissue, Erythema, Vasculitis in the skin ORPHA:90159
Brugada Syndrome 1
Atrial flutter, Atrial fibrillation, Cardiac arrest, Supraventricular tachycardia with an accesso... OMIM:601144
Ichthyosis, Congenital, Autosomal Recessive 3
Erythema, Hyperkeratosis, Palmoplantar keratoderma, Congenital nonbullous ichthyosiform erythrode... OMIM:606545
Autosomal Dominant Epidermolytic Ichthyosis
Skin ulcer, Hyperkeratosis, Congenital bullous ichthyosiform erythroderma, Palmoplantar keratoder... ORPHA:312
Rat-Bite Fever
Abdominal aseptic abscess, Pericarditis, Maculopapular exanthema, Skin rash, Erythema nodosum, Ly... ORPHA:31205
Anonychia With Flexural Pigmentation
Hyperkeratosis, Macular telangiectasia, Follicular hyperkeratosis ORPHA:69125
Ichthyosis-Hepatosplenomegaly-Cerebellar Degeneration Syndrome
Splenomegaly, Hepatomegaly, Ichthyosis ORPHA:2274
Wilson Disease
Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Pruritus, Thrombocytopenia, J... ORPHA:905
Factor V Excess With Spontaneous Thrombosis
Pulmonary embolism OMIM:134400
Benign Cephalic Histiocytosis
Inflammatory abnormality of the skin, Skin rash, Histiocytosis ORPHA:157997
Immunodeficiency 102
Increased circulating interleukin 6 concentration, Leukopenia, Decreased circulating IgG level, H... OMIM:301082
Hepatomegaly, Abnormal hemoglobin, Microcytic anemia, Thrombocytopenia, Splenomegaly, Hepatitis, ... ORPHA:848
Spinocerebellar Ataxia Type 27
Akinesia, Aggressive behavior, Limb ataxia, Gait ataxia, Gait disturbance, Difficulty walking, Tr... ORPHA:98764
Hemoglobin D Disease
Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, HbS hemoglobin, A... ORPHA:90039
Long Qt Syndrome 13
Cardiac arrest, Pulmonary embolism, Congestive heart failure, Permanent atrial fibrillation, Atri... OMIM:613485
Peeling Skin Syndrome 4
Hyperkeratosis, Palmoplantar keratoderma, Scaling skin, Ichthyosis, Orthokeratosis OMIM:607936
Immunodeficiency, Common Variable, 1
Hepatomegaly, Pneumonia, Impaired T cell function, Splenomegaly, Recurrent pneumonia, Bronchiecta... OMIM:607594
Classic Mycosis Fungoides
Hepatomegaly, Skin rash, Eczema, Pruritus, Splenomegaly, Hypopigmented skin patches, Lymphadenopa... ORPHA:2584
Proteasome-Associated Autoinflammatory Syndrome 2
Increased CD4:CD8 ratio, Neutrophilic infiltration of the skin, Skin rash, Elevated circulating C... OMIM:618048
Hypotrichosis 6
Erythema, Follicular hyperkeratosis OMIM:607903
Immunodeficiency 91 And Hyperinflammation
Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Membranoproliferative glomeru... OMIM:619644
Muscular Hypertonia, Lethal
Respiratory distress, Death in infancy, Pneumonia, Hypokinesia OMIM:254120
Histiocytosis, Familial Lipochrome
Increased alpha-globulin, Increased circulating antibody level, Histiocytosis OMIM:235900
Sydenham Chorea
Erythema, Inappropriate behavior, Compulsive behaviors ORPHA:306731
Hereditary Progressive Mucinous Histiocytosis
Pruritus, Mucinous histiocytosis, Lymphadenopathy ORPHA:158025
Hemophagocytic Lymphohistiocytosis, Familial, 3
Hypertriglyceridemia, Reduced natural killer cell activity, Hepatosplenomegaly, Hemophagocytosis,... OMIM:608898
Myh9-Related Disease
Spontaneous, recurrent epistaxis, Increased mean platelet volume, Myocardial infarction, Giant pl... ORPHA:182050
Vohwinkel Syndrome, Variant Form
Parakeratosis, Hypergranulosis, Honeycomb palmoplantar hyperkeratosis, Hyperkeratosis, Orthokerat... OMIM:604117
Proteasome-Associated Autoinflammatory Syndrome 5
Hepatomegaly, Hypertriglyceridemia, Skin rash, Failure to thrive in infancy, Splenomegaly OMIM:619175
Bile Acid Synthesis Defect, Congenital, 1
Elevated hepatic transaminase, Hepatomegaly, Giant cell hepatitis, Failure to thrive, Conjugated ... OMIM:607765
Igg4-Related Kidney Disease
Elevated circulating C-reactive protein concentration, Lymphadenitis, Abnormal lung morphology, D... ORPHA:449395
Immunodeficiency By Defective Expression Of Mhc Class Ii
Sinusitis, Abnormal CD4:CD8 ratio, Acute otitis media, T lymphocytopenia, Neutropenia, Autoimmune... ORPHA:572
Sting-Associated Vasculopathy, Infantile-Onset
Lymphopenia, Myositis, Failure to thrive, Skin rash, Recurrent respiratory infections, Elevated c... OMIM:615934
Methemoglobinemia, Beta Type
Cyanosis, Methemoglobinemia OMIM:617971
Methemoglobinemia, Alpha Type
Cyanosis, Methemoglobinemia OMIM:617973
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked
Glomerulonephritis, Eczema, Autoimmune thrombocytopenia, Eosinophilia, Thrombocytopenia, Increase... OMIM:304790
Whim Syndrome
Sinusitis, Severe periodontitis, Pneumonia, Respiratory tract infection, Lymphadenitis, Atelectas... ORPHA:51636
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant
Recurrent respiratory infections, Recurrent sinopulmonary infections, Splenomegaly, Bronchiectasi... OMIM:615513
Cardiomyopathy, Dilated, 1L
Increased left ventricular end-diastolic volume, Reduced systolic function, Elevated circulating ... OMIM:606685
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia
Decreased proportion of CD4-positive T cells, Recurrent respiratory infections, Autoimmune thromb... OMIM:300853
Cholestasis, Progressive Familial Intrahepatic, 10
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Conjugated hyperbili... OMIM:619868
Amyloidosis, Primary Localized Cutaneous, 1
Dry skin, Scaling skin OMIM:105250
Activated Pi3K-Delta Syndrome
Hepatomegaly, Pneumonia, Splenomegaly, Recurrent tonsillitis, Bronchiectasis, Decreased circulati... ORPHA:397596
Keratoderma Hereditarium Mutilans With Ichthyosis
Parakeratosis, Scaling skin on fingertip, Hypergranulosis, Honeycomb palmoplantar hyperkeratosis,... ORPHA:79395
Ataxia-Photosensitivity-Short Stature Syndrome
Urticaria, Cutaneous photosensitivity, Dry skin ORPHA:1184
Boutonneuse Fever
Elevated hepatic transaminase, Maculopapular exanthema, Skin rash, Cervical lymphadenopathy, Lymp... ORPHA:83313
Epidermolysis Bullosa With Diaphragmatic Hernia
Neonatal death OMIM:226735
Cutaneous Small Vessel Vasculitis
Urticaria, Erythema, Cutis marmorata, Purpura ORPHA:889
Hypohidrotic Ectodermal Dysplasia With Immunodeficiency
Decreased circulating IgG level, Eczema, Absent peripheral lymph nodes in presence of infection, ... ORPHA:98813
Familial Hemophagocytic Lymphohistiocytosis
Increased circulating interleukin 6 concentration, Increased circulating interferon-gamma concent... ORPHA:540
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Respiratory distress, Myositis, Abnormal blood ion concentration, Tubulointerstitial nephritis, I... ORPHA:37042
Brugada Syndrome 5
ST segment elevation, Bundle branch block, Ventricular fibrillation OMIM:612838
Immunoerythromyeloid Hypoplasia
Decreased circulating IgG level, Erythroid hypoplasia, Absent leukocyte alkaline phosphatase OMIM:242880
Pulmonary Nodular Lymphoid Hyperplasia
Nodular pattern on pulmonary HRCT, Follicular hyperplasia, Dyspnea, Mediastinal lymphadenopathy, ... ORPHA:60026
Congenital Lethal Erythroderma
Urticaria, Death in infancy, Dry skin ORPHA:1954
Cardiomyopathy, Dilated, 1V
Increased left ventricular end-diastolic volume, Atrial fibrillation, First degree atrioventricul... OMIM:613697
Cholestasis, Progressive Familial Intrahepatic, 11
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Pruritus, Elevated c... OMIM:619874
Lethal Congenital Contracture Syndrome 3
Neonatal death OMIM:611369
Reticuloendotheliosis, X-Linked
Jaundice, Lymphadenopathy, Anemia, Hepatosplenomegaly OMIM:312500
Immunodeficiency 89 And Autoimmunity
Pulmonary bulla, Reduced circulating interleukin 17A concentration, Reduced circulating interleuk... OMIM:619632
Immunodeficiency 69
Pancytopenia, Skin rash, Splenomegaly, Increased circulating ferritin concentration, Leukocytosis... OMIM:618963
Perry Syndrome
Hypoventilation, Central hypoventilation, Akinesia, Respiratory insufficiency, Inappropriate beha... OMIM:168605
Immunodeficiency 105
Impaired lymphocyte transformation with phytohemagglutinin, Decreased circulating IgG level, Panc... OMIM:619924
Cardiac Conduction Disease With Or Without Dilated Cardiomyopathy
Atrial flutter, Tachycardia, Atrial fibrillation, Cardiac arrest, Congestive heart failure, Dilat... OMIM:616117
Myositis, Sinusitis, Cholangitis, Bronchitis, Lymphadenitis, Abnormality of the spleen, Nephritis... ORPHA:2552
Autosomal Agammaglobulinemia
Recurrent respiratory infections, Sinusitis, Osteomyelitis, Skin rash, Recurrent skin infections,... ORPHA:33110
Proteasome-Associated Autoinflammatory Syndrome 3
Elevated hepatic transaminase, Hepatomegaly, Myositis, Hypertriglyceridemia, Sinusitis, Skin rash... OMIM:617591
Ras-Associated Autoimmune Leukoproliferative Disorder
Hepatomegaly, Pancytopenia, Hemolytic anemia, Recurrent respiratory infections, Autoimmune thromb... OMIM:614470
Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency
Atrophic gastritis, Pure red cell aplasia, Inflammation of the large intestine, Decreased circula... ORPHA:436159
Quinquaud Folliculitis Decalvans
Erythema ORPHA:346
Keratosis Pilaris Atrophicans
Erythema OMIM:604093
Chronic Hiccup
Dehydration, Abnormal eating behavior ORPHA:396
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Hepatomegaly, Extramedullary hematopoiesis, Splenomegaly, Thrombocytopenia, Leukopenia, Increased... OMIM:615285
Renin-Angiotensin-Aldosterone System-Blocker-Induced Angioedema
Tongue edema, Palpebral edema, Pharyngeal edema, Facial edema, Laryngeal edema, Angioedema, Eryth... ORPHA:100057
Progressive Supranuclear Palsy-Pure Akinesia With Gait Freezing Syndrome
Freezing of gait, Akinesia, Unsteady gait, Neuromuscular dysphagia, Falls, Gait imbalance, Loss o... ORPHA:240094
Cardiomyopathy, Dilated, 1C, With Or Without Left Ventricular Noncompaction
Increased left ventricular end-diastolic volume, Sudden cardiac death, Congestive heart failure, ... OMIM:601493
Giant platelets, Neutropenia, Abnormal platelet granules, Thrombocytopenia, Pulmonary hemorrhage ORPHA:238459
Brugada Syndrome 8
Right bundle branch block, ST segment elevation, Ventricular tachycardia OMIM:613123
Thyrotropin-Releasing Hormone Deficiency
Dry skin OMIM:275120
Dermatitis, Atopic
Dry skin, Facial erythema, Pallor, Ichthyosis OMIM:603165
Hyper-Ige Syndrome 5, Autosomal Recessive, With Recurrent Infections
Increased circulating interleukin 6 concentration, Recurrent skin infections, Recurrent upper res... OMIM:618944
Generalized Eruptive Histiocytosis
Maculopapular exanthema, Pruritus, Hypereosinophilia, Lymphadenopathy, Elevated total serum trypt... ORPHA:157991
Immunodeficiency 32A
Lymphadenitis, Granuloma, Lymphadenopathy OMIM:614893
Stillbirth OMIM:265880
Bleeding Disorder, Platelet-Type, 21
Thrombocytopenia, Impaired ADP-induced platelet aggregation, Impaired platelet aggregation, Incre... OMIM:617443
Sjögren-Larsson Syndrome
Erythema, Urticaria, Hyperkeratosis, Ichthyosis, Dry skin ORPHA:816
Localized Dystrophic Epidermolysis Bullosa, Acral Form
Erythema, Palmoplantar hyperkeratosis, Telangiectasia, Thin skin, Cutaneous photosensitivity, Fra... ORPHA:158673
Cutaneous Mastocytoma
Telangiectasia of the skin, Thickened skin, Angioedema, Erythema, Darier's sign, Flushing, Dermat... ORPHA:79455
Pulmonary Venoocclusive Disease 2, Autosomal Recessive
Dyspnea, Mediastinal lymphadenopathy, Cough, Decreased DLCO, Pulmonary arterial hypertension OMIM:234810
Lymphoproliferative Syndrome 1
Hepatomegaly, Pancytopenia, Autoimmune hemolytic anemia, Elevated circulating C-reactive protein ... OMIM:613011
Neonatal Lupus Erythematosus
Elevated hepatic transaminase, Hepatomegaly, Hemolytic anemia, Pancytopenia, Maculopapular exanth... ORPHA:398124
Recessive X-Linked Ichthyosis
Hyperkeratosis, Dry skin, Ichthyosis ORPHA:461
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease
Elevated hepatic transaminase, Acute myeloid leukemia, Pancytopenia, Hypertriglyceridemia, Elevat... ORPHA:158057
Portal Hypertension, Noncirrhotic, 1
Splenomegaly, Hepatomegaly, Portal hypertension, Elevated hepatic transaminase OMIM:617068
Night Blindness, Congenital Stationary, Type 1C
Dry skin OMIM:613216
Maculopapular Cutaneous Mastocytosis
Erythema, Darier's sign, Dermatographic urticaria, Generalized abnormality of skin, Flushing ORPHA:79457
Neutropenia-Monocytopenia-Deafness Syndrome
Abnormal macrophage morphology, Abnormality of neutrophils ORPHA:2690
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Splenomegaly, Hepatomegaly, Persistence of hemoglobin F, Anemia ORPHA:46532
Hepatic Venoocclusive Disease With Immunodeficiency
Abnormality of the liver, Decreased circulating IgG level, Absence of lymph node germinal center OMIM:235550
3-Hydroxy-3-Methylglutaryl-Coa Synthase-2 Deficiency
Increased circulating lactate dehydrogenase concentration, Hepatomegaly, Elevated circulating ala... OMIM:605911
Macrothrombocytopenia, Isolated, 1, Autosomal Dominant
Impaired platelet aggregation, Macrothrombocytopenia OMIM:613112
Palmoplantar Keratoderma And Congenital Alopecia 1
Palmoplantar erythema, Plantar hyperkeratosis, Palmoplantar keratoderma, Epidermal hyperkeratosis OMIM:104100
Pulmonary Hypertension, Primary, 3
Increased pulmonary vascular resistance, Dyspnea, Elevated pulmonary artery pressure, Pulmonary a... OMIM:615343
Schnitzler Syndrome
Hepatomegaly, Skin rash, Pruritus, Splenomegaly, Leukocytosis, Lymphadenopathy, Arthritis, Increa... ORPHA:37748
Autoimmune Hepatitis
Elevated hepatic transaminase, Viral hepatitis, Diffuse hepatic steatosis, Glomerulonephritis, Sp... ORPHA:2137
Avian Influenza
Respiratory distress, Elevated circulating creatine kinase concentration, Elevated circulating C-... ORPHA:454836
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation
Decreased circulating IgG level, Hepatomegaly, Atrophic gastritis, Psoriasiform dermatitis, Autoi... OMIM:616100
Griscelli Syndrome, Type 2
Accumulation of melanosomes in melanocytes, Silver-gray hair, Reduced delayed hypersensitivity, H... OMIM:607624
Igg4-Related Pachymeningitis
Sinusitis, Eosinophilia, Elevated circulating C-reactive protein concentration, Increased circula... ORPHA:449427
Immunodeficiency, Common Variable, 2
Hepatomegaly, Impaired T cell function, Follicular hyperplasia, Splenomegaly, Recurrent pneumonia... OMIM:240500
Bile Acid Synthesis Defect, Congenital, 3
Hepatomegaly, Failure to thrive, Elevated circulating aspartate aminotransferase concentration, H... OMIM:613812
Immunodeficiency 75 With Lymphoproliferation
Recurrent respiratory infections, Follicular hyperplasia, Bronchiectasis, Decreased proportion of... OMIM:619126
Ichthyosis, Congenital, Autosomal Recessive 6
Parakeratosis, Hyperkeratosis, Palmoplantar keratoderma, Generalized ichthyosis, Congenital nonbu... OMIM:612281
Respiratory distress, Brain abscess, Skin rash, Pneumonia, Erythema nodosum, Thrombocytopenia, Le... ORPHA:3392
Q Fever
Respiratory distress, Abnormality of the liver, Cholecystitis, Cough, Infectious encephalitis, He... ORPHA:781
Cardiomyopathy, Dilated, With Woolly Hair, Keratoderma, And Tooth Agenesis
Parakeratosis, Erythema, Hyperkeratosis, Palmoplantar keratoderma, Ichthyosis OMIM:615821
Alpha-1-Antitrypsin Deficiency
Elevated hepatic transaminase, Hepatocellular carcinoma, Splenomegaly, Dyspnea, Chronic pulmonary... OMIM:613490
Graft Versus Host Disease
Elevated hepatic transaminase, Fasciitis, Myositis, Maculopapular exanthema, Pneumonia, Inflammat... ORPHA:39812
Familial Cold Urticaria
Urticaria, Polydipsia, Erythema, Dehydration ORPHA:47045
Hydroa Vacciniforme
Erythema, Hydroa vacciniforme, Telangiectasia of the skin, Cutaneous photosensitivity ORPHA:330058
Erythrokeratodermia Variabilis
Erythema, Patchy palmoplantar hyperkeratosis, Dry skin, Hyperkeratosis, Cutaneous photosensitivity ORPHA:317
Congenital Enterovirus Infection
Respiratory distress, Abnormal macrophage morphology, Skin rash, Fetal ascites, Myocarditis, Leuk... ORPHA:292
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency
Inflammatory abnormality of the skin, Sinusitis, Failure to thrive, Absence of lymph node germina... ORPHA:277
Immunodeficiency Due To Selective Anti-Polysaccharide Antibody Deficiency
Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc... ORPHA:70593
Hyper-Ige Syndrome 2, Autosomal Recessive, With Recurrent Infections
Recurrent sinopulmonary infections, Eczema, Eosinophilic infiltration of the esophagus, Eosinophi... OMIM:243700
Perching Syndrome
Respiratory distress, Cyanosis, Dysphagia OMIM:617055
Heme Oxygenase 1 Deficiency
Hepatomegaly, Hemolytic anemia, Increased circulating interleukin 6 concentration, Thrombocytosis... OMIM:614034
Telangiectasia of the skin, Prematurely aged appearance, Skin ulcer, Excessive wrinkled skin, Thi... ORPHA:2500
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema
Hepatomegaly, Reticulocytosis, Increased circulating ferritin concentration, Jaundice, Splenomega... OMIM:194380
Psoriasis 2
Hyperkeratosis, Parakeratosis, Scaling skin OMIM:602723
Isolated Agammaglobulinemia
Recurrent cutaneous abscess formation, Failure to thrive, Sinusitis, Skin rash, Pneumonia, Abnorm... ORPHA:229717
Hemophagocytic Lymphohistiocytosis, Familial, 2
Leukopenia, Hypoalbuminemia, Infectious encephalitis, Hyponatremia, Hepatomegaly, Hepatosplenomeg... OMIM:603553
Cardiomyopathy, Familial Hypertrophic, 15
Hyperdynamic left ventricular ejection fraction, Congestive heart failure, Left ventricular outfl... OMIM:613255
Lymphatic Filariasis
Glomerulonephritis, Orchitis, Lymphadenitis, Abnormal lung morphology, Knee osteoarthritis, Epidi... ORPHA:2035
Immunodeficiency 25
Autoimmune hemolytic anemia, Eosinophilia, Increased circulating IgA level, Recurrent pneumonia, ... OMIM:610163
Telangiectasia, Hereditary Hemorrhagic, Type 5
Elevated hepatic transaminase, Spontaneous, recurrent epistaxis, Portal hypertension, Telangiectasia OMIM:615506
Hemoglobin H Disease
Hepatomegaly, Hemolytic anemia, Splenomegaly, Reduced alpha/beta synthesis ratio, HbH hemoglobin OMIM:613978
Epidermolysis Bullosa Simplex With Circinate Migratory Erythema
Parakeratosis, Palmoplantar hyperkeratosis, Skin fragility with non-scarring blistering, Erythema... ORPHA:158681
Congenital Heart Defects, Multiple Types, 3
Tachycardia, Atrial fibrillation, Atrioventricular block, Right bundle branch block, Atrioventric... OMIM:614954
Huriez Syndrome
Dry skin, Lack of skin elasticity ORPHA:384
Granulomatous Slack Skin
Erythema, Redundant skin, Cutis laxa ORPHA:33111
Drug Reaction With Eosinophilia And Systemic Symptoms
Acute hepatic failure, Elevated hepatic transaminase, Skin rash, Eosinophilia, Pustule, Myocardit... ORPHA:139402
Complement Component C1S Deficiency
Abnormality of complement system, Hepatitis, Hashimoto thyroiditis OMIM:613783
Alpha-Heavy Chain Disease
Hepatomegaly, Dysgammaglobulinemia, Splenomegaly, Lymphadenopathy, Hypocalcemia, Ascites, Anemia ORPHA:100025
Omenn Syndrome
Hepatomegaly, Severe B lymphocytopenia, Pneumonia, Eosinophilia, Splenomegaly, Thrombocytopenia, ... OMIM:603554
Bleeding Disorder, Platelet-Type, 19
Thrombocytopenia, Macrothrombocytopenia, Epistaxis, Anemia OMIM:616176
Ichthyosis Hystrix Of Curth-Macklin
Hyperkeratosis, Diffuse palmoplantar hyperkeratosis, Ichthyosis ORPHA:79503
Congenital Panfollicular Nevus
Hyperkeratosis ORPHA:139414
Cryptogenic Organizing Pneumonia
Respiratory distress, Bronchial breath sound, Neutrophilia, Cyanosis, Anorexia, Crackles, Nonprod... ORPHA:1302
Cardiomyopathy, Familial Hypertrophic, 6
Wolff-Parkinson-White syndrome, Atrial fibrillation, Prolonged QRS complex, Congestive heart fail... OMIM:600858
Fetal Akinesia Syndrome, X-Linked
Stillbirth, Hypokinesia OMIM:300073
Mu-Heavy Chain Disease
Hepatomegaly, Abnormal B cell count, Splenomegaly, Weight loss, Lymphadenopathy, Increased circul... ORPHA:100024
Corticosteroid-Sensitive Aseptic Abscess Syndrome
Elevated hepatic transaminase, Brain abscess, Neutrophilia, Liver abscess, Elevated circulating C... ORPHA:54251
Left Ventricular Noncompaction 10
Increased left ventricular end-diastolic volume, Congestive heart failure, Dilated cardiomyopathy... OMIM:615396
Erythrokeratoderma ''En Cocardes''
Hyperkeratosis ORPHA:315
Congenital Bile Acid Synthesis Defect Type 2
Elevated hepatic transaminase, Giant cell hepatitis, Hepatomegaly, Abnormal circulating enzyme co... ORPHA:79303
Cardiomyopathy, Familial Hypertrophic, 14
Congestive heart failure, Severely reduced left ventricular ejection fraction, Ventricular tachyc... OMIM:613251
Indolent Systemic Mastocytosis
Hepatomegaly, Maculopapular exanthema, Skin rash, Pruritus, Splenomegaly, Lymphadenopathy, Increa... ORPHA:98848
Sea-Blue Histiocyte Disease
Elevated circulating aspartate aminotransferase concentration, Splenomegaly, Elevated circulating... OMIM:269600
Ataxia-Pancytopenia Syndrome
Recurrent respiratory infections, Pancytopenia, Abnormal macrophage morphology, Abnormality of ne... ORPHA:2585
Cholesteryl Ester Storage Disease
Acute hepatic failure, Decreased HDL cholesterol concentration, Bone-marrow foam cells, Leukopeni... OMIM:278000
Agammaglobulinemia 8B, Autosomal Recessive
Decreased circulating IgG level, Pancytopenia, Splenomegaly, Decreased proportion of CD8-positive... OMIM:619824
Abnormal CD4:CD8 ratio, Leukopenia, T lymphocytopenia, Increased circulating IgG level, Neutropen... ORPHA:443811
Diffuse Palmoplantar Keratoderma-Acrocyanosis Syndrome
Acrocyanosis ORPHA:86918
Lymphoproliferative Syndrome 2
Hepatomegaly, Pancytopenia, Aplastic anemia, Splenomegaly, Recurrent pneumonia, EBV encephalitis,... OMIM:615122
Hemophagocytic Lymphohistiocytosis, Familial, 1
Hyponatremia, Hepatomegaly, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Increa... OMIM:267700
Cardiomyopathy, Familial Hypertrophic, 16
Atrial fibrillation, Sudden cardiac death, Ventricular tachycardia, Left bundle branch block, Asy... OMIM:613838
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Intermediate Form
Hyperkeratosis, Plantar hyperkeratosis, Skin fragility with non-scarring blistering, Palmar hyper... ORPHA:79399
Peeling Skin Syndrome 6
Orthokeratosis, Parakeratosis, Dry skin, Scaling skin OMIM:618084
Keratosis Linearis With Ichthyosis Congenita And Sclerosing Keratoderma
Parakeratosis, Linear arrays of macular hyperkeratoses in flexural areas, Honeycomb palmoplantar ... OMIM:601952
Bernard-Soulier Syndrome, Type A2, Autosomal Dominant
Hemolytic anemia, Epistaxis, Increased mean platelet volume, Thrombocytopenia, Splenomegaly, Impa... OMIM:153670
Vulvovaginal Gingival Syndrome
Parakeratosis, Erythema ORPHA:83453
Immunodeficiency, Common Variable, 8, With Autoimmunity
Atrophic gastritis, Generalized lymphadenopathy, Uveitis, Inflammation of the large intestine, Co... OMIM:614700
T-Cell Immunodeficiency With Thymic Aplasia
Failure to thrive, Sinusitis, Decreased proportion of naive T cells, Pneumonia, Aplasia of the th... ORPHA:83471
Chilblain Lupus
Inflammatory abnormality of the skin, Skin rash, Discoid lupus rash, Asthma, Chronic myelomonocyt... ORPHA:90280
Lymphatic Malformation 4
Hyperkeratosis, Prominent superficial veins, Pedal edema, Lymphedema OMIM:615907
Transaldolase Deficiency
Premature skin wrinkling, Hydrops fetalis, Edema, Telangiectasia ORPHA:101028
Insulin-Resistance Syndrome Type A
Hyperkeratosis ORPHA:2297
Hypertriglyceridemia, Transient Infantile
Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Hepatic fibrosis... OMIM:614480
Histiocytosis, Progressive Mucinous
Mucinous histiocytosis OMIM:142630
Liver abscess, Elevated circulating C-reactive protein concentration, Bronchitis, Knee osteoarthr... ORPHA:1304
Nephropathy, Progressive Tubulointerstitial, With Cholestatic Liver Disease
Elevated hepatic transaminase, Cholestatic liver disease OMIM:602114
Acne Inversa, Familial, 3
Chronic furunculosis, Recurrent cutaneous abscess formation, Perifolliculitis, Acne inversa OMIM:613737
Felty Syndrome
Sinusitis, Neutropenia, Chronic otitis media, Abnormal lymphocyte morphology, Hepatomegaly, Recur... ORPHA:47612
Venular Insufficiency, Systemic
Cyanosis OMIM:192700
Sulfhemoglobinemia, Congenital
Cyanosis OMIM:185460
Congenital Myopathy 9A
Death in infancy, Akinesia OMIM:618822
Pemphigus Vulgaris
Urticaria, Acantholysis ORPHA:704
Craniosynostosis-Mental Retardation-Clefting Syndrome
Dry skin OMIM:218650
Focal Cortical Dysplasia, Type Ii
Astrocytosis OMIM:607341
Ectodermal dysplasia, Dry skin, Thin skin ORPHA:1660
Agammaglobulinemia, X-Linked
T lymphocytopenia, Conjunctivitis, Decreased circulating IgE, Neutropenia, Decreased circulating ... OMIM:300755
Arrhythmogenic Right Ventricular Dysplasia, Familial, 13
Ventricular tachycardia, First degree atrioventricular block, Left bundle branch block OMIM:615616
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome
Abnormal hemoglobin, Splenomegaly, Thrombocytopenia, Abnormal platelet function, Anemia ORPHA:231393
Mendelian Susceptibility To Mycobacterial Diseases Due To Complete Il12Rb1 Deficiency
Abnormal circulating interleukin concentration, Lymphadenitis, Salmonella osteomyelitis, Pneumonia ORPHA:319552
Hemoglobin E-Beta-Thalassemia Syndrome
Increased circulating ferritin concentration, Abnormal hemoglobin, Anemia ORPHA:231249
Arrhythmogenic Right Ventricular Dysplasia, Familial, 14
Ventricular tachycardia, Left bundle branch block, Premature ventricular contraction, Presyncope,... OMIM:618920
Gilbert Syndrome
Elevated hepatic transaminase, Jaundice, Hepatic failure OMIM:143500
Autoimmune Lymphoproliferative Syndrome
Uveitis, Increased circulating IgG level, Colitis, Lymphocytosis, Increased B cell count, Decreas... ORPHA:3261
Ichthyosis, Spastic Quadriplegia, And Impaired Intellectual Development
Erythema, Hyperkeratosis, Scaling skin, Congenital nonbullous ichthyosiform erythroderma, Ichthyo... OMIM:614457
Sitosterolemia 1
Reticulocytosis, Hyperapobetalipoproteinemia, Elevated circulating sitosterol concentration, Thro... OMIM:210250
Platelet-Activating Factor Acetylhydrolase Deficiency
Platelet-activating factor acetylhydrolase deficiency OMIM:614278
Cholestasis, Progressive Familial Intrahepatic, 12
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Conjugated hyperbili... OMIM:620010
Legionnaires Disease
Hyponatremia, Pericarditis, Abnormal pleura morphology, Myocarditis, Jaundice, Splenomegaly, Abno... ORPHA:549
Omenn Syndrome
Hepatomegaly, Failure to thrive, Pneumonia, Eosinophilia, Pruritus, Splenomegaly, Leukocytosis, T... ORPHA:39041
Spinocerebellar Ataxia 21
Ataxia, Impulsivity, Aggressive behavior, Akinesia, Limb ataxia, Gait ataxia, Progressive cerebel... OMIM:607454
Respiratory distress, Liver abscess, Lymphadenitis, Nonproductive cough, Conjunctivitis, Emphysem... ORPHA:31204
Hemochromatosis, Type 2B
Elevated hepatic transaminase, Hepatomegaly, Hyperpigmentation of the skin, Increased circulating... OMIM:613313
Linear Atrophoderma Of Moulin
Pruritus, Scleroderma, Inflammatory abnormality of the skin, Linear hyperpigmentation ORPHA:140933
Laryngotracheoesophageal Cleft
Neonatal respiratory distress, Cyanosis, Cough, Dyspnea, Stridor, Choking episodes, Impaired orop... ORPHA:2004
Purine Nucleoside Phosphorylase Deficiency
Autoimmune hemolytic anemia, Sinusitis, Hypouricemia, Increased circulating guanosine concentrati... OMIM:613179
Immunodeficiency 7
Hepatomegaly, Autoimmune hemolytic anemia, Recurrent respiratory infections, Splenomegaly, Hypere... OMIM:615387
Familial Cold Autoinflammatory Syndrome 2
Skin rash, Elevated circulating C-reactive protein concentration, Erythema nodosum, Splenomegaly,... OMIM:611762
Immunodeficiency 82 With Systemic Inflammation
Decreased proportion of naive T cells, Elevated circulating C-reactive protein concentration, Bro... OMIM:619381
Congenital Toxoplasmosis
Elevated hepatic transaminase, Hepatomegaly, Abnormality of retinal pigmentation, Failure to thri... ORPHA:858
Sinusitis, Cough, Neutropenia, Infectious encephalitis, Chronic pulmonary obstruction, Bronchiect... ORPHA:1163
Peeling Skin With Leukonychia, Acral Punctate Keratoses, Cheilitis, And Knuckle Pads
Acantholysis, Punctate palmoplantar hyperkeratosis, Hyperkeratosis, Scaling skin, Follicular hype... OMIM:616295
Bullous Dystrophy, Hereditary Macular Type
Acrocyanosis, Death in childhood OMIM:302000
Cyanosis, Transient Neonatal
Reticulocytosis, Cyanosis, Jaundice, Methemoglobinemia, Anemia OMIM:613977
Pulmonary Hypertension, Primary, 4
Atrial flutter, Pulmonary arterial hypertension with lack of acute response to NO challenge, Firs... OMIM:615344
Irida Syndrome
Hyperkeratosis, Pallor, Ichthyosis ORPHA:209981
Kerion Celsi
Recurrent cutaneous abscess formation, Inflammatory abnormality of the skin, Recurrent skin infec... ORPHA:499
Beta-Thalassemia, Dominant Inclusion Body Type
Hepatomegaly, Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, Ery... OMIM:603902
Congenital Disorder Of Glycosylation, Type Iil
Elevated hepatic transaminase, Hepatomegaly, Pancytopenia, Elevated circulating creatine kinase c... OMIM:614576
Mantle Cell Lymphoma
Splenomegaly, Lymphadenopathy, Weight loss ORPHA:52416
Immunodeficiency 103, Susceptibility To Fungal Infections
Abnormal B cell count, Abnormal proportion of CD8-positive T cells, Decreased serum iron, Increas... OMIM:212050
Sickle Cell Anemia
Pigment gallstones, Hemolytic anemia, Osteomyelitis, Reticulocytosis, Thrombocytosis, Microcytic ... ORPHA:232
Bullous Impetigo
Erythema ORPHA:36237
Thrombocytopenia 3
Thrombocytopenia, Epistaxis, Decreased mean platelet volume OMIM:273900
Griscelli Syndrome Type 2
Hepatomegaly, Pancytopenia, Hypopigmentation of hair, Partial albinism, Splenomegaly, Jaundice, H... ORPHA:79477
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome
T lymphocytopenia, Cough, Recurrent aspiration pneumonia, Hepatomegaly, Portal hypertension, Hepa... ORPHA:79124
Manganese Poisoning
Akinesia, Aggressive behavior, Hypersexuality, Gait disturbance, Inappropriate laughter, Compulsi... ORPHA:306682
Hyperbilirubinemia, Shunt, Primary
Hepatomegaly, Reticulocytosis, Anemia of inadequate production, Splenomegaly, Jaundice, Hyperbili... OMIM:237800
Congenital Disorder Of Glycosylation, Type Iio
Elevated hepatic transaminase, Hepatomegaly, Decreased circulating ceruloplasmin concentration, E... OMIM:616828
Transgrediens Et Progrediens Palmoplantar Keratoderma
Plantar hyperkeratosis, Thickened skin, Diffuse palmoplantar hyperkeratosis, Nonepidermolytic pal... ORPHA:495
Atrial Standstill
Ventricular escape rhythm, Cardiac conduction abnormality, Atrial standstill, Congestive heart fa... ORPHA:1344
Cardiomyopathy, Familial Hypertrophic, 11
Atrial flutter, Angina pectoris, Cardiac arrest, Congestive heart failure, Ventricular tachycardi... OMIM:612098
Porphyria Cutanea Tarda
Elevated hepatic transaminase, Viral hepatitis, Abnormal circulating enzyme concentration or acti... ORPHA:101330
Leukocyte Adhesion Deficiency, Type Iii
Hepatomegaly, Extramedullary hematopoiesis, Recurrent skin infections, Epistaxis, Splenomegaly, L... OMIM:612840
Aicardi-Goutieres Syndrome 3
Elevated hepatic transaminase, Chilblains, Thrombocytopenia, Hepatosplenomegaly OMIM:610329
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis
Autoimmune hemolytic anemia, Glomerulonephritis, Pneumonia, Plasmacytosis, Increased circulating ... OMIM:247800
Riddle Syndrome
Dry skin OMIM:611943
Cardiomyopathy, Familial Hypertrophic, 26
Atrial fibrillation, Sudden cardiac death, Congestive heart failure, Permanent atrial fibrillatio... OMIM:617047
Poikiloderma With Neutropenia
Plantar hyperkeratosis, Skin rash, Elevated circulating creatine kinase concentration, Splenomega... OMIM:604173
Bare Lymphocyte Syndrome, Type Ii
Viral hepatitis, Cholangitis, Recurrent upper respiratory tract infections, Biliary tract abnorma... OMIM:209920
Complement Component 4B Deficiency
Decreased circulating complement C4b concentration, Chronic active hepatitis, Asthma, Recurrent p... OMIM:614379
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation
Hepatomegaly, Failure to thrive, Generalized lymphadenopathy, Aplasia of the thymus, Pneumonia, E... OMIM:602450
Cholestasis-Lymphedema Syndrome
Elevated hepatic transaminase, Hepatomegaly, Conjugated hyperbilirubinemia, Splenomegaly, Jaundic... OMIM:214900
Cardiomyopathy, Familial Hypertrophic, 13
Atrial fibrillation, Angina pectoris, Concentric hypertrophic cardiomyopathy, Right bundle branch... OMIM:613243
Autoinflammatory-Pancytopenia Syndrome
Pancytopenia, Membranoproliferative glomerulonephritis, Chilblains, Intestinal inflammation, Hepa... OMIM:619858
Parana Hard Skin Syndrome
Hyperkeratosis, Thickened skin ORPHA:2812
Carboxypeptidase N Deficiency
Urticaria, Angioedema OMIM:212070
Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia
Decreased circulating IgG level, Hepatomegaly, Recurrent respiratory infections, Recurrent skin i... OMIM:620210
Immunodeficiency 98 With Autoinflammation, X-Linked
Hepatomegaly, Chronic oral candidiasis, Autoimmune hemolytic anemia, Splenomegaly, Lymphadenopath... OMIM:301078
Niemann-Pick Disease, Type A
Hepatomegaly, Failure to thrive, Recurrent respiratory infections, Elevated circulating aspartate... OMIM:257200
Reticular Dysgenesis
Recurrent respiratory infections, Skin rash, Abnormality of neutrophils, Weight loss, Decreased c... ORPHA:33355
Ectodermal Dysplasia-Syndactyly Syndrome 2
Ectodermal dysplasia, Palmoplantar keratoderma, Follicular hyperkeratosis, Congenital bullous ich... OMIM:613576
Pruritic Urticarial Papules And Plaques Of Pregnancy
Parakeratosis, Facial erythema, Skin vesicle, Palmoplantar erythema, Striae distensae ORPHA:64745
Common Variable Immunodeficiency
Elevated hepatic transaminase, Hemolytic anemia, Recurrent respiratory infections, Failure to thr... ORPHA:1572
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis
Respiratory distress, Hepatomegaly, Osteomyelitis, Skin rash, Neutrophilia, Elevated circulating ... OMIM:612852
Preeclampsia/Eclampsia 1
Elevated hepatic transaminase, Hypertension, Thrombocytopenia OMIM:189800
Pyogenic Sterile Arthritis, Pyoderma Gangrenosum, And Acne
Pancytopenia, Acne, Thrombocytosis, Elevated circulating C-reactive protein concentration, Microc... OMIM:604416
High Altitude Pulmonary Edema
Orthopnea, Cyanosis, Anorexia, Crackles, Dyspnea, Leukocytosis, Tachypnea, Hypoxemia, Cough ORPHA:330012
Immunodeficiency 76
Splenomegaly, Recurrent pneumonia, Lymphadenopathy, T lymphocytopenia, Colitis, B lymphocytopenia... OMIM:619164
Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency
Chronic gastritis, Liver abscess, Cholangitis, Bronchitis, Cholecystitis, Decreased circulating I... ORPHA:183675
Primary Erythromelalgia
Erythema ORPHA:90026
Aggressive Systemic Mastocytosis
Pancytopenia, Maculopapular exanthema, Portal hypertension, Pruritus, Hypersplenism, Leukocytosis... ORPHA:98850
Glycogen Storage Disease Xv
ST segment elevation, Right bundle branch block, Paroxysmal ventricular tachycardia, T-wave inver... OMIM:613507
Anemia, Sideroblastic, 3, Pyridoxine-Refractory
Elevated hepatic transaminase, Hepatomegaly, Anisocytosis, Conjugated hyperbilirubinemia, Increas... OMIM:616860
Prolidase Deficiency
Hepatomegaly, Chronic lung disease, Eczema, Elevated circulating aspartate aminotransferase conce... OMIM:170100
Cardiomyopathy, Familial Hypertrophic, 10
Sudden cardiac death, Ventricular tachycardia, Left bundle branch block, Asymmetric septal hypert... OMIM:608758
Combined Immunodeficiency, X-Linked
Sinusitis, Pneumonia, Decreased proportion of CD8-positive T cells, Otitis media, Decreased propo... OMIM:312863
Long Qt Syndrome 10
Prolonged QT interval, Atrial fibrillation, Sudden cardiac death, T-wave alternans, Atrioventricu... OMIM:611819
Autoinflammation With Infantile Enterocolitis
Pancytopenia, Failure to thrive, Skin rash, Elevated circulating C-reactive protein concentration... OMIM:616050
Sézary Syndrome
Hepatomegaly, Abnormal pleura morphology, Abnormal immunoglobulin level, Pruritus, Splenomegaly, ... ORPHA:3162
Mevalonic Aciduria
Elevated hepatic transaminase, Normocytic hypoplastic anemia, Skin rash, Elevated circulating cre... OMIM:610377
Focal Palmoplantar And Gingival Keratoderma
Subungual hyperkeratosis, Focal friction-related palmoplantar hyperkeratosis, Gingival hyperkerat... ORPHA:2200
Inflammatory Bowel Disease (Infantile Ulcerative Colitis) 31, Autosomal Recessive
Leukocytosis, Ulcerative colitis, Anemia, Elevated circulating C-reactive protein concentration OMIM:619398
Pityriasis Rubra Pilaris
Subungual hyperkeratosis, Parakeratosis, Hypergranulosis, Palmoplantar keratoderma, Orthokeratosis OMIM:173200
Deafness, Autosomal Dominant 1, With Or Without Thrombocytopenia
Impaired platelet aggregation, Macrothrombocytopenia, Thrombocytopenia OMIM:124900
Trichothiodystrophy 7, Nonphotosensitive
Congenital nonbullous ichthyosiform erythroderma, Follicular hyperkeratosis, Ichthyosis OMIM:618546
Majeed Syndrome
Inflammatory abnormality of the skin, Osteomyelitis, Skin rash, Anemia of inadequate production, ... OMIM:609628
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency
Sinusitis, Severe B lymphocytopenia, Hepatomegaly, Autoimmune thrombocytopenia, Decreased circula... OMIM:102700
Atypical Juvenile Parkinsonism
Akinesia, Inability to walk, Gait ataxia, Shuffling gait, Short stepped shuffling gait ORPHA:391411
Cardiomyopathy, Dilated, 2G
Aortic regurgitation, Tachycardia, Tricuspid regurgitation, Cerebral hemorrhage, Dilated cardiomy... OMIM:619897
Gaucher Disease, Perinatal Lethal
Respiratory distress, Petechiae, Apnea, Hypokinesia, Akinesia, Splenomegaly, Hepatosplenomegaly, ... OMIM:608013
Cinca Syndrome
Skin rash, Eosinophilia, Elevated circulating C-reactive protein concentration, Leukocytosis, Uve... OMIM:607115
Kufor-Rakeb Syndrome
Ataxia, Akinesia, Aggressive behavior, Gait disturbance, Dysphagia, Hypokinesia OMIM:606693
Immunodeficiency 50
Recurrent respiratory infections, Eczema, Decreased circulating antibody level, Neutropenia, Lymp... OMIM:300988
Porokeratosis 7, Multiple Types
Parakeratosis, Porokeratosis OMIM:614714
Porokeratosis 1, Multiple Types
Parakeratosis, Porokeratosis OMIM:175800
Galactosemia Iii
Hepatomegaly, Splenomegaly, Jaundice, Decreased beta-galactosidase activity, Hypergalactosemia, F... OMIM:230350
Spinocerebellar Ataxia Type 21
Progressive cerebellar ataxia, Akinesia, Gait ataxia ORPHA:98773
Immunodeficiency 23
Hemolytic anemia, Failure to thrive, Membranoproliferative glomerulonephritis, Recurrent respirat... OMIM:615816
Muscular Dystrophy, Becker Type