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Gene: Gba1 MGI:95665

Gene Summary

Name:

glucosylceramidase beta 1

Synonyms:

glucocerebrosidase, GBA1, GC, betaGC, GCase, Gba

Order Alleles

IMPC Data Collections

IMPC Phenotype Summary

Significant

Not Significant

Not tested

View all our phenotype data below

Phenotypes

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

Phenotype	Allele	Zyg	Life Stage	P Value
increased circulating amylase level	Gba1^em1(IMPC)H	HET	Early adult	5.70×10^-08
increased mean platelet volume	Gba1^em1(IMPC)H	HET	Early adult	5.41×10^-06
prolonged QRS complex duration	Gba1^em1(IMPC)H	HET	Early adult	3.94×10^-09
preweaning lethality, complete penetrance	Gba1^em1(IMPC)H	HOM	Early adult	0.00

Download data as: TSV XLS

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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.

MicroCT E18.5

Embryo reconstruction

4 Images

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MicroCT E14.5-E15.5

Embryo reconstruction

5 Images

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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.

Human diseases associated with Gba1 (13 diseases)
Human diseases predicted to be associated with Gba1 (2341 diseases)

The table below shows human diseases associated to Gba1 by orthology or direct annotation.

Disease	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	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
Dermoodontodysplasia	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
Acatalasemia	Reduced catalase level	OMIM:614097
Dermatoleukodystrophy	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
Dermatoleukodystrophy	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
Leishmaniasis	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
Pentosuria	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
Elastoderma	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
Beta-Thalassemia	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
Microsporidiosis	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
Slc35A1-Cdg	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
Pyknoachondrogenesis	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
Tularemia	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
Acrogeria	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
Pgm3-Cdg	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
Brucellosis	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
Dermoodontodysplasia	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
Nocardiosis	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
Aspergillosis	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	Abnormal EKG, Arrhythmia, Elevated circulating creatine kinase concentration, Cardiomyopathy	OMIM:300376
Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia	Macrocytic anemia, Increased circulating lactate dehydrogenase concentration, Thrombocytosis, Ecz...	OMIM:617780
Ichthyosis, Congenital, Autosomal Recessive 2	Hypergranulosis, Erythema, Hyperkeratosis, Congenital ichthyosiform erythroderma, Palmoplantar ke...	OMIM:242100
Hemophagocytic Syndrome Associated With An Infection	Elevated hepatic transaminase, Hepatomegaly, Pancytopenia, Hypertriglyceridemia, Increased circul...	ORPHA:158048
Palmoplantar Keratoderma, Epidermolytic, 1	Localized epidermolytic hyperkeratosis, Plantar hyperkeratosis, Palmoplantar hyperkeratosis, Palm...	OMIM:144200
Bacterial Toxic-Shock Syndrome	Respiratory distress, Fasciitis, Sinusitis, Myositis, Elevated circulating creatine kinase concen...	ORPHA:36234
Anemia, Congenital Dyserythropoietic, Type Iv	Decreased hemoglobin concentration, Circulating nucleated red blood cells, Anisocytosis, Erythroi...	OMIM:613673
Muscular Dystrophy, Cardiac Type	Abnormal EKG, Elevated circulating creatine kinase concentration, Cardiomyopathy	OMIM:309930
Centrifugal Lipodystrophy	Lymphadenitis, Inflammatory abnormality of the skin	ORPHA:90156
Familial Cold Autoinflammatory Syndrome 3	Dermatographic urticaria, Angioedema, Erythema, Cold urticaria	OMIM:614468
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity	T lymphocytopenia, Hemolytic anemia, Psoriasiform dermatitis, Decreased proportion of CD4+CD25+ r...	OMIM:606367
Congenital Disorder Of Glycosylation, Type Iih	Failure to thrive in infancy, Elevated circulating aspartate aminotransferase concentration, Elev...	OMIM:611182
Emery-Dreifuss Muscular Dystrophy 2, Autosomal Dominant	Elevated circulating creatine kinase concentration, Sudden cardiac death, First degree atrioventr...	OMIM:181350
Epidermolytic Palmoplantar Keratoderma	Hypergranulosis, Epidermal hyperkeratosis, Diffuse palmoplantar hyperkeratosis, Palmoplantar hype...	ORPHA:2199
Dominant Beta-Thalassemia	Extramedullary hematopoiesis, Decreased mean corpuscular hemoglobin concentration, Failure to thr...	ORPHA:231226
Nodular Lymphocyte Predominant Hodgkin Lymphoma	Hepatomegaly, Pruritus, Splenomegaly, Weight loss, Lymphadenopathy	ORPHA:86893
Aicardi-Goutieres Syndrome 7	Hepatomegaly, Atrophic gastritis, Hemolytic anemia, Skin rash, Chilblains, Pneumonia, Pancytopeni...	OMIM:615846
Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, And Calvarial Hyperostosis	Hepatomegaly, Skin rash, Allergic rhinitis, Anemia of inadequate production, Splenomegaly, Jaundi...	OMIM:612714
Overhydrated Hereditary Stomatocytosis	Hepatomegaly, Hemolytic anemia, Reticulocytosis, Pulmonary embolism, Splenomegaly, Jaundice, Stom...	OMIM:185000
Atrial Fibrillation, Familial, 11	Reduced left ventricular ejection fraction, Prolonged P wave, Atrial fibrillation, Prolonged QRS ...	OMIM:614049
Familial Reactive Perforating Collagenosis	Perifolliculitis, Inflammatory abnormality of the skin, Maculopapular exanthema, Pruritus, Crusti...	ORPHA:79147
Sea-Blue Histiocytosis	Hepatomegaly, Hypopigmentation of the skin, Hyperpigmentation of the skin, Splenomegaly, Mediasti...	ORPHA:158029
Aicardi-Goutieres Syndrome 6	Hepatomegaly, Hemolytic anemia, Chilblains, Splenomegaly, Thrombocytopenia	OMIM:615010
Atrial Septal Defect, Sinus Venosus Type	Automatic atrial tachycardia, Atrial flutter, Tricuspid regurgitation, Left-to-right shunt, Atria...	ORPHA:99105
Pulmonary Venoocclusive Disease 1, Autosomal Dominant	Pulmonary arterial hypertension, Elevated jugular venous pressure, Abnormally loud pulmonic compo...	OMIM:265450
Arthrogryposis, Renal Dysfunction, And Cholestasis 1	Elevated hepatic transaminase, Giant cell hepatitis, Small for gestational age, Hepatic melanin-l...	OMIM:208085
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency	Hepatomegaly, Recurrent respiratory infections, Glomerulonephritis, Decreased proportion of margi...	OMIM:619375
Spinocerebellar Ataxia Type 34	Urticaria, Dry skin	ORPHA:1955
Alpha-Methylacetoacetic Aciduria	Dehydration	OMIM:203750
Postencephalitic Parkinsonism	Akinesia, Diminished movement, Abnormal respiratory system physiology, Dysphagia, Cough	ORPHA:97349
Immunodeficiency 62	Autoimmune thrombocytopenia, Recurrent upper respiratory tract infections, Bronchiectasis, Decrea...	OMIM:618459
Thrombophilia Due To Protein S Deficiency, Autosomal Dominant	Pulmonary embolism	OMIM:612336
Idiopathic/Heritable Pulmonary Arterial Hypertension	Hepatomegaly, Tricuspid regurgitation, Dyspnea, Abnormal cardiovascular system physiology, Heart ...	ORPHA:422
T-Cell Lymphopenia, Infantile, With Or Without Nail Dystrophy, Autosomal Dominant	Pneumonia, Recurrent upper respiratory tract infections, Atopic dermatitis, T lymphocytopenia, Ab...	OMIM:618806
Ichthyosis, Congenital, Autosomal Recessive 5	Parakeratosis, Palmoplantar keratoderma, Congenital nonbullous ichthyosiform erythroderma, Orthok...	OMIM:604777
Ectodermal Dysplasia With Mental Retardation And Syndactyly	Ectodermal dysplasia, Dry skin	OMIM:600906
Hepatocellular Carcinoma	Hepatocellular carcinoma, Micronodular cirrhosis, Subacute progressive viral hepatitis	OMIM:114550
Primary Sclerosing Cholangitis	Acute hepatic failure, Abnormal eosinophil morphology, Uveitis, Hepatic fibrosis, Hypoalbuminemia...	ORPHA:171
Seizures, Benign Familial Infantile, 3	Cyanosis, Apnea	OMIM:607745
Pulmonary Fibrosis-Hepatic Hyperplasia-Bone Marrow Hypoplasia Syndrome	Elevated hepatic transaminase, Portal hypertension, Nodular regenerative hyperplasia of liver, Cr...	ORPHA:210136
Trimethylaminuria	Splenomegaly, Recurrent pneumonia, Anemia, Neutropenia	OMIM:602079
Pemphigus Foliaceus	Psoriasiform dermatitis, Acantholysis, Erythema, Scaling skin, Skin vesicle	ORPHA:79481
Verrucous Hemangioma	Inflammatory abnormality of the skin, Hyperkeratotic papule	ORPHA:464318
Microphthalmia, Syndromic 8	Premature skin wrinkling	OMIM:601349
Xeroderma Pigmentosum Variant	Cutaneous photosensitivity, Dry skin, Telangiectasia	ORPHA:90342
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome	Chronic oral candidiasis, Abscess, Abnormal CD4:CD8 ratio, Splenomegaly, Recurrent pneumonia, Neu...	OMIM:150550
Lamellar Ichthyosis	Lack of skin elasticity, Dehydration, Hyperkeratosis, Ichthyosis, Dry skin	ORPHA:313
Interstitial Lung Disease 2	Dyspnea, Cirrhosis, Cough, Decreased DLCO, Pulmonary arterial hypertension, Exertional dyspnea	OMIM:178500
Harlequin Ichthyosis	Dehydration, Hyperkeratosis, Congenital ichthyosiform erythroderma, Self-injurious behavior, Icht...	ORPHA:457
Olmsted Syndrome, X-Linked	Subungual hyperkeratosis, Parakeratosis, Palmoplantar hyperkeratosis, Hyperkeratosis, Palmoplanta...	OMIM:300918
Autoinflammation With Episodic Fever And Lymphadenopathy	Hepatomegaly, Microcytic anemia, Splenomegaly, Recurrent tonsillitis, Lymphadenopathy	OMIM:618852
Alpha-Thalassemia	Hemolytic anemia, Abnormal hemoglobin, Microcytic anemia, Hypersplenism, Splenomegaly, Jaundice, ...	ORPHA:846
Melioidosis	Foot osteomyelitis, Unusual skin infection, Liver abscess, Brain abscess, Pneumonia, Lung abscess...	ORPHA:31202
Alpha-1-Antitrypsin Deficiency	Hepatomegaly, Jaundice, Hepatitis, Emphysema, Hepatic failure	ORPHA:60
Muscle Filaminopathy	Extremely elevated creatine kinase, Left ventricular diastolic dysfunction, Right bundle branch b...	ORPHA:171445
Parkinson Disease 17	Akinesia	OMIM:614203
Phosphoserine Aminotransferase Deficiency	Death in infancy, Cyanotic episode, Apnea	OMIM:610992
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency	Reticulocytosis, Anisocytosis, Reduced red cell pyruvate kinase level, Increased circulating ferr...	ORPHA:766
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive	Pneumonia, Purulent rhinitis, Arthritis, T lymphocytopenia, Conjunctivitis, B lymphocytopenia, Ot...	OMIM:601457
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia	Recurrent respiratory infections, Failure to thrive in infancy, Cervical lymphadenopathy, Decreas...	OMIM:618987
Atrial Fibrillation, Familial, 18	Paroxysmal atrial fibrillation, First degree atrioventricular block, Permanent atrial fibrillatio...	OMIM:617280
Thrombophilia Due To Protein S Deficiency, Autosomal Recessive	Cerebral hemorrhage, Anemia, Pulmonary embolism	OMIM:614514
Thrombophilia Due To Protein C Deficiency, Autosomal Recessive	Vitreous hemorrhage, Pulmonary embolism	OMIM:612304
Immunodeficiency With Hyper-Igm, Type 4	Autoimmune hemolytic anemia, Osteomyelitis, Impaired Ig class switch recombination, Autoimmune th...	OMIM:608184
Necrobiosis Lipoidica	Erythema, Telangiectasia of the skin, Fragile skin, Skin ulcer	ORPHA:542592
Papular Xanthoma	Hyperlipidemia, Histiocytosis	ORPHA:158008
Dietary Iron Overload Disease	Hepatomegaly, Viral hepatitis, Hepatocellular carcinoma, Increased circulating ferritin concentra...	ORPHA:139507
Lymphoproliferative Syndrome 3	Decreased circulating antibody level, Lymphadenopathy, Hepatosplenomegaly, Partial absence of spe...	OMIM:618261
Hypobetalipoproteinemia, Familial, 1	Decreased HDL cholesterol concentration, Hypertriglyceridemia, Elevated circulating aspartate ami...	OMIM:615558
Cardiomyopathy, Familial Hypertrophic, 2	Atrial fibrillation, Angina pectoris, Right bundle branch block, Reduced left ventricular ejectio...	OMIM:115195
Immunodeficiency 11B With Atopic Dermatitis	Pneumonia, Eosinophilia, Asthma, Increased circulating IgE level, Atopic dermatitis, Bronchiectas...	OMIM:617638
Neutropenia, Chronic Familial	Increased circulating antibody level, Periodontitis, Neutropenia	OMIM:162700
Neutropenia, Lethal Congenital, With Eosinophilia	Neonatal death	OMIM:257100
Congenital Disorder Of Glycosylation, Type Iq	Elevated hepatic transaminase, Eczema, Microcytic anemia, Abnormality of skin pigmentation, Hyper...	OMIM:612379
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss	Elevated circulating aspartate aminotransferase concentration, Splenomegaly, Jaundice, Elevated c...	OMIM:619658
Bile Acid Synthesis Defect, Congenital, 5	Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Iron de...	OMIM:616278
Mitochondrial Complex I Deficiency, Nuclear Type 30	Neonatal death, Redundant skin	OMIM:301021
Deafness-Lymphedema-Leukemia Syndrome	Hepatomegaly, Recurrent respiratory infections, Abnormal neutrophil count, Splenomegaly, Leukocyt...	ORPHA:3226
C1Q Deficiency 2	Chilblains, Elevated circulating C-reactive protein concentration, Discoid lupus rash, Atelectasi...	OMIM:620321
Pfapa Syndrome	Hepatomegaly, Splenomegaly, Recurrent pharyngitis, Weight loss, Lymphadenopathy, Arthritis, Infec...	ORPHA:42642
Autoimmune Disease, Multisystem, With Facial Dysmorphism	Hepatomegaly, Pancytopenia, Recurrent respiratory infections, Failure to thrive in infancy, Porta...	OMIM:613385
Agammaglobulinemia 4, Autosomal Recessive	Recurrent pneumonia, Abnormal T cell morphology, Agammaglobulinemia, Decreased circulating total ...	OMIM:613502
Proteasome-Associated Autoinflammatory Syndrome 1	Decreased HDL cholesterol concentration, Increased circulating interleukin 6 concentration, Eleva...	OMIM:256040
Glycogen Storage Disease Vi	Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Failure to thrive in infancy, ...	OMIM:232700
Bullous Pemphigoid	Urticaria, Erythema, Psoriasiform dermatitis	ORPHA:703
Combined Oxidative Phosphorylation Deficiency 36	Premature skin wrinkling	OMIM:617950
Hemochromatosis, Type 3	Elevated hepatic transaminase, Hyperpigmentation of the skin, Increased circulating ferritin conc...	OMIM:604250
Laryngotracheal Angioma	Respiratory distress, Cyanosis, Intercostal retractions, Apnea, Wheezing, Stridor, Cough	ORPHA:137935
Microcephaly, Congenital Cataract, And Psoriasiform Dermatitis	Decreased HDL cholesterol concentration, Psoriasiform dermatitis, Decreased LDL cholesterol conce...	OMIM:616834
Laryngeal Abductor Paralysis	Stridor, Cyanosis, Dysphagia	OMIM:150260
Autosomal Erythropoietic Protoporphyria	Cutaneous photosensitivity, Erythema, Edema	ORPHA:79278
Infantile Digital Fibromatosis	Hyperkeratosis, Parakeratosis	ORPHA:199267
Arthrogryposis, Renal Dysfunction, And Cholestasis 2	Elevated hepatic transaminase, Giant cell hepatitis, Hepatomegaly, Conjugated hyperbilirubinemia,...	OMIM:613404
Pomt2-Related Limb-Girdle Muscular Dystrophy R14	Right bundle branch block, Dilated cardiomyopathy, Left ventricular systolic dysfunction, Elevate...	ORPHA:206559
Seizures, Benign Familial Infantile, 1	Cyanosis, Apnea	OMIM:601764
T-Cell Lymphoma, Subcutaneous Panniculitis-Like	Pancytopenia, Hypertriglyceridemia, Splenomegaly, Increased circulating ferritin concentration, P...	OMIM:618398
Cerebral Dysgenesis, Neuropathy, Ichthyosis, And Palmoplantar Keratoderma Syndrome	Ichthyosis, Failure to thrive, Aspiration pneumonia, Palmoplantar keratoderma	OMIM:609528
X-Linked Sideroblastic Anemia	Elevated hepatic transaminase, Hyperpigmentation of the skin, Splenomegaly, Dyspnea, Abnormality ...	ORPHA:75563
Encephalopathy Due To Prosaposin Deficiency	Splenomegaly, Hepatomegaly, Recurrent respiratory infections, Respiratory insufficiency	ORPHA:139406
Lethal Congenital Contracture Syndrome 2	Respiratory failure, Akinesia	OMIM:607598
Immunodeficiency 92	Hepatomegaly, Osteomyelitis, Pneumonia, Cholangitis, Leukocytosis, Decreased proportion of class-...	OMIM:619652
Diabetes Mellitus, Transient Neonatal, 1	Dehydration	OMIM:601410
Diarrhea 4, Malabsorptive, Congenital	Dehydration	OMIM:610370
Hyperkeratosis Lenticularis Perstans	Hyperkeratosis lenticularis perstans, Skin ulcer	ORPHA:409
Insulin-Resistance Syndrome Type B	Osteoarthritis, Increased body weight, Leukopenia, Increased circulating IgG level, Hypoalbuminem...	ORPHA:2298
Immunodeficiency 99 With Hypogammaglobulinemia And Autoimmune Cytopenias	Recurrent sinopulmonary infections, Absent specific antibody response, Decreased proportion of CD...	OMIM:619846
Rosaï-Dorfman Disease	Erythema	ORPHA:158014
Scapuloperoneal Myopathy, X-Linked Dominant	Right bundle branch block, Elevated circulating creatine kinase concentration	OMIM:300695
Hemoglobin E Disease	Drug-sensitive hemolytic anemia, Abnormal hemoglobin, Anemia of inadequate production, Splenomega...	ORPHA:2133
Immunodeficiency 60 And Autoimmunity	Recurrent sinopulmonary infections, Pancytopenia, Splenomegaly, Bronchiectasis, Ulcerative coliti...	OMIM:618394
Cryoglobulinemic Vasculitis	Hepatomegaly, Viral hepatitis, Circulating immune complexes, Splenomegaly, Mediastinal lymphadeno...	ORPHA:91138
Dermatitis Herpetiformis	Urticaria, Skin vesicle, Erythema, Edema	ORPHA:1656
Autoimmune Polyendocrinopathy Type 4	Atrophic gastritis, Macrocytic anemia, Autoimmune thrombocytopenia, Iridocyclitis, Hepatitis, Bil...	ORPHA:227990
Immunodeficiency 56	Recurrent respiratory infections, Failure to thrive, Cholangitis, Recurrent pneumonia, Bronchiect...	OMIM:615207
Ebola Hemorrhagic Fever	Acute pancreatitis, Maculopapular exanthema, Dyspnea, Hepatitis, Leukopenia, Increased circulatin...	ORPHA:319218
Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome	Elevated hepatic transaminase, Increased circulating IgM level, Pruritus, Increased circulating I...	ORPHA:562639
Cardiomyopathy, Dilated, 2C	Reduced left ventricular ejection fraction, Pulmonary arterial hypertension, Dilated cardiomyopathy	OMIM:618189
Hyper-Ige Syndrome 4A, Autosomal Dominant, With Recurrent Infections	Decreased circulating IgG level, Recurrent skin infections, Asthma, Recurrent pneumonia, Recurren...	OMIM:619752
Immunodeficiency With Hyper-Igm, Type 3	Impaired Ig class switch recombination, Absence of lymph node germinal center, Impaired memory B ...	OMIM:606843
Congenital Pulmonary Lymphangiectasia	Respiratory distress, Hepatomegaly, Tricuspid regurgitation, Splenomegaly, Congestive heart failu...	ORPHA:2414
Immunodeficiency 94 With Autoinflammation And Dysmorphic Facies	Elevated circulating C-reactive protein concentration, Microcytic anemia, Asthma, Recurrent pneum...	OMIM:619750
Immunodeficiency 14B, Autosomal Recessive	Neutrophilia, Reduced natural killer cell activity, Leukocytosis, Recurrent pneumonia, Monocytosi...	OMIM:619281
Immunodeficiency 40	Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Respiratory tract in...	OMIM:616433
Palmoplantar Keratoderma, Punctate Type Ia	Orthokeratosis, Punctate palmoplantar hyperkeratosis, Hypergranulosis	OMIM:148600
Gastrointestinal Defects And Immunodeficiency Syndrome 1	Impaired lymphocyte transformation with phytohemagglutinin, Recurrent respiratory infections, Aut...	OMIM:243150
Long Qt Syndrome 2	Prolonged QT interval, Cardiac arrest, Sudden cardiac death, Syncope, Torsade de pointes, Prolong...	OMIM:613688
Erythroleukemia, Familial, Susceptibility To	Acute myeloid leukemia, Hepatomegaly, Splenomegaly, Anemia, Erythroid hyperplasia, Leukemia, Thro...	OMIM:133180
Burkitt Lymphoma	Abnormality of the spleen, Abnormality of the pancreas, Abnormal lymph node morphology, Abnormali...	ORPHA:543
Immunodeficiency 44	Elevated circulating alanine aminotransferase concentration, Decreased circulating total IgM, Abn...	OMIM:616636
Ectodermal Dysplasia 10A, Hypohidrotic/Hair/Nail Type, Autosomal Dominant	Ectodermal dysplasia, Dry skin	OMIM:129490
Chylomicron Retention Disease	Elevated hepatic transaminase, Hypertriglyceridemia, Acanthocytosis, Steatorrhea, Hypocholesterol...	ORPHA:71
Congenital Amegakaryocytic Thrombocytopenia	Thrombocytopenia, Abnormal hemoglobin, Anemia, Melanocytic nevus	ORPHA:3319
Neurodegeneration With Brain Iron Accumulation 5	Akinesia, Aggressive behavior	OMIM:300894
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome	Small for gestational age, Eczema, Failure to thrive in infancy, Decreased proportion of CD8-posi...	OMIM:617241
Psoriasis 14, Pustular	Parakeratosis, Psoriasiform dermatitis, Erythema	OMIM:614204
Chediak-Higashi Syndrome	Leukopenia, Periodontitis, Giant neutrophil granules, Neutropenia, Hypopigmentation of the skin, ...	OMIM:214500
Classic Hodgkin Lymphoma	Hepatomegaly, Skin rash, Pruritus, Splenomegaly, Respiratory insufficiency, Weight loss, Lymphade...	ORPHA:391
Cardiomyopathy, Dilated, With Woolly Hair And Keratoderma	Acantholysis, Palmoplantar hyperkeratosis, Palmoplantar scaling skin, Palmoplantar keratoderma, P...	OMIM:605676
Plague	Respiratory distress, Hepatomegaly, Chapped lip, Skin rash, Erythema nodosum, Lymphadenitis, Sple...	ORPHA:707
Mast Cell Sarcoma	Hepatomegaly, Splenomegaly, Mediastinal lymphadenopathy, Weight loss, Lymphadenopathy, Mastocytosis	ORPHA:66661
Classic Glucose Transporter Type 1 Deficiency Syndrome	Central apnea, Cyanosis, Ataxia, Abnormal erythrocyte morphology, Choreoathetosis	ORPHA:71277
Cystic Echinococcosis	Abnormal peritoneum morphology, Elevated gamma-glutamyltransferase level, Peritoneal abscess, Bil...	ORPHA:400
Hypohidrosis-Enamel Hypoplasia-Palmoplantar Keratoderma-Intellectual Disability Syndrome	Recurrent respiratory infections, Hepatitis, Palmoplantar hyperkeratosis	ORPHA:363523
Congenital Bile Acid Synthesis Defect Type 1	Elevated hepatic transaminase, Hepatomegaly, Pruritus, Splenomegaly, Jaundice, Biliary tract abno...	ORPHA:79301
Classic Progressive Supranuclear Palsy Syndrome	Akinesia, Impulsivity, Neuromuscular dysphagia, Falls, Gait imbalance	ORPHA:240071
Epidermolysis Bullosa Dystrophica, Pretibial	Hyperkeratosis	OMIM:131850
Lactase Deficiency, Congenital	Dehydration	OMIM:223000
Immunodeficiency 54	Hepatomegaly, Recurrent respiratory infections, Splenomegaly, Respiratory insufficiency, Lymphade...	OMIM:609981
Refractory Celiac Disease	Elevated hepatic transaminase, Normocytic anemia, Inflammatory abnormality of the skin, Macrocyti...	ORPHA:398063
Gamma-Heavy Chain Disease	Hepatomegaly, Autoimmune hemolytic anemia, Recurrent respiratory infections, Skin rash, Autoimmun...	ORPHA:100026
Keratosis Follicularis Spinulosa Decalvans, X-Linked	Dry skin, Palmoplantar keratoderma, Follicular hyperkeratosis, Facial erythema	OMIM:308800
Pulmonary Hypertension, Primary, 2	Increased pulmonary vascular resistance, Pulmonary arterial hypertension, Abnormally loud pulmoni...	OMIM:615342
Grubben-De Cock-Borghgraef Syndrome	Dry skin	ORPHA:2101
Primary Myelofibrosis	Hepatomegaly, Pancytopenia, Extramedullary hematopoiesis, Thrombocytosis, Portal hypertension, Ca...	ORPHA:824
Acquired Idiopathic Sideroblastic Anemia	Normocytic anemia, Hepatomegaly, Acute myeloid leukemia, Pancytopenia, Anemia of inadequate produ...	ORPHA:75564
Thrombocytopenia With Congenital Dyserythropoietic Anemia	Anisocytosis, Anemia of inadequate production, Macrothrombocytopenia, Poikilocytosis, Hypochromic...	ORPHA:67044
Bile Acid Synthesis Defect, Congenital, 4	Elevated hepatic transaminase, Hepatomegaly, Giant cell hepatitis, Failure to thrive, Elevated ci...	OMIM:214950
Majeed Syndrome	Hepatomegaly, Inflammatory abnormality of the skin, Osteomyelitis, Acne, Cachexia, Congenital hyp...	ORPHA:77297
Idiopathic Achalasia	Bronchitis, Wheezing, Weight loss, Cough, Decreased prealbumin level, Recurrent aspiration pneumonia	ORPHA:930
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-	Respiratory distress, Hepatomegaly, Thrombocytopenia, Splenomegaly, Hyperammonemia, Neutropenia, ...	ORPHA:79312
Immunodeficiency, Common Variable, 7	Recurrent respiratory infections, Splenomegaly, Chronic (near) absent circulating IgG4, Reduced i...	OMIM:614699
Primary Biliary Cholangitis	Abnormal circulating lipid concentration, Portal hypertension, Increased circulating IgA level, C...	ORPHA:186
Bazex Syndrome	Parakeratosis, Hyperkeratosis, Palmoplantar keratoderma, Scaling skin, Acanthosis nigricans	ORPHA:166113
Breath-Holding Spells	Iron deficiency anemia, Cyanosis	OMIM:607578
Igg4-Related Aortitis	Increased inflammatory response, Elevated circulating C-reactive protein concentration, Increased...	ORPHA:449400
Persistent Polyclonal B-Cell Lymphocytosis	Splenomegaly, Hepatomegaly, Decreased circulating total IgM, Lymphocytosis	OMIM:606445
Sandhoff Disease	Splenomegaly, Hepatomegaly, Failure to thrive, Recurrent respiratory infections	ORPHA:796
Hemoglobin C-Beta-Thalassemia Syndrome	Splenomegaly, Abnormal hemoglobin, Anemia, Microcytic anemia	ORPHA:231242
Congenital Myopathy 12	Respiratory insufficiency due to muscle weakness, Death in infancy, Akinesia	OMIM:612540
Combined Immunodeficiency Due To Dock8 Deficiency	Recurrent bacterial skin infections, Recurrent respiratory infections, Pneumonia, Asthma, Increas...	ORPHA:217390
Agammaglobulinemia 6, Autosomal Recessive	Recurrent pneumonia, Abnormal T cell morphology, Agammaglobulinemia, Decreased circulating total ...	OMIM:612692
Autoimmune Polyendocrinopathy Type 3	Atrophic gastritis, Macrocytic anemia, Autoimmune thrombocytopenia, Iridocyclitis, Hepatitis, Bil...	ORPHA:227982
Triokinase And Fmn Cyclase Deficiency Syndrome	Hepatomegaly, Failure to thrive in infancy, Microcytic anemia, Elevated circulating alanine amino...	OMIM:618805
B4Galt1-Cdg	Elevated hepatic transaminase, Hepatomegaly, Abnormal circulating enzyme concentration or activit...	ORPHA:79332
Severe X-Linked Mitochondrial Encephalomyopathy	Respiratory distress, Hypokinesia, Respiratory insufficiency	ORPHA:238329
Intellectual Developmental Disorder With Muscle Tone Abnormalities And Distal Skeletal Defects	Ataxia, Attention deficit hyperactivity disorder, Hypokinesia	OMIM:620007
Anemia, Congenital Dyserythropoietic, Type Ia	Hepatomegaly, Hemolytic anemia, Reticulocytosis, Small for gestational age, Reduced level of N-ac...	OMIM:224120
Mycosis Fungoides	Erythema, Psoriasiform dermatitis	OMIM:254400
Fetal Akinesia Deformation Sequence	Akinesia, Hypokinesia, Respiratory insufficiency	ORPHA:994
Immunodeficiency 47	Normocytic anemia, Leukopenia, Hepatic fibrosis, Hepatic steatosis, Accessory spleen, Hepatomegal...	OMIM:300972
Multiple Myeloma	Hypercalcemia, Increased circulating IgA level, Splenomegaly, Elevated circulating creatinine con...	ORPHA:29073
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency	Impaired lymphocyte transformation with phytohemagglutinin, Recurrent respiratory infections, Abs...	ORPHA:35078
Kikuchi-Fujimoto Disease	Generalized lymphadenopathy, Elevated circulating C-reactive protein concentration, Leukopenia, L...	ORPHA:50918
Pneumocystosis	Multiple pulmonary cysts, Respiratory failure requiring assisted ventilation, Abnormal neutrophil...	ORPHA:723
Congenital Heart Defects And Ectodermal Dysplasia	Dry skin, Thin skin	OMIM:617364
Immunodeficiency 85 And Autoimmunity	Decreased circulating IgG level, Recurrent respiratory infections, Failure to thrive in infancy, ...	OMIM:619510
Erythrokeratodermia Variabilis Et Progressiva 1	Generalized hyperkeratosis, Patchy palmoplantar hyperkeratosis, Hypergranulosis	OMIM:133200
Congenital Disorder Of Glycosylation, Type Iik	Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Elevated circulating...	OMIM:614727
Immunodeficiency 46	Chronic oral candidiasis, Recurrent sinopulmonary infections, Intermittent thrombocytopenia, Decr...	OMIM:616740
Pyruvate Kinase Deficiency Of Red Cells	Hepatomegaly, Reticulocytosis, Decreased hemoglobin concentration, Reduced red cell pyruvate kina...	OMIM:266200
Intellectual Developmental Disorder With Language Impairment And Early-Onset Dopa-Responsive Dystonia-Parkinsonism	Freezing of gait, Akinesia	OMIM:619911
Anemia, Congenital Dyserythropoietic, Type Ib	Hepatomegaly, Reticulocytosis, Anisocytosis, Anemia of inadequate production, Splenomegaly, Jaund...	OMIM:615631
Autosomal Recessive Hypohidrotic Ectodermal Dysplasia	Dry skin	ORPHA:248
Systemic-Onset Juvenile Idiopathic Arthritis	Hepatomegaly, Pericarditis, Anterior uveitis, Skin rash, Elevated circulating C-reactive protein ...	ORPHA:85414
Familial Apolipoprotein Gene Cluster Deletion Syndrome	Decreased circulating apolipoprotein A-I concentration, Decreased HDL cholesterol concentration, ...	OMIM:620058
Cardiomyopathy-Cataract-Hip Spine Disease Syndrome	Pulmonary embolism, Congestive heart failure, Hypertension, Hypertrophic cardiomyopathy, Arrhythmia	ORPHA:1345
Alpha-Thalassemia-Myelodysplastic Syndrome	Microcytic anemia, Splenomegaly, Dyspnea, Acute leukemia, Neutropenia, HbH hemoglobin, Thrombocyt...	ORPHA:231401
Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome	Hepatomegaly, Hyperammonemia, Hyperornithinemia, Decreased liver function, Acute hepatitis, Failu...	OMIM:238970
Immunodeficiency, Common Variable, 11	Decreased circulating IgG level, Recurrent respiratory infections, Increased circulating IgE leve...	OMIM:615767
Alg8-Cdg	Abnormality of subcutaneous fat tissue, Edema, Hydrops fetalis, Cutis laxa, Premature skin wrinkl...	ORPHA:79325
Primary Sjögren Syndrome	Normocytic anemia, Myositis, Chronic active hepatitis, Bronchitis, Nonproductive cough, Tubuloint...	ORPHA:289390
Diffuse Cutaneous Mastocytosis	Hepatomegaly, Mixed hypo- and hyperpigmentation of the skin, Pruritus, Abnormality of the spleen,...	ORPHA:79456
Epidermolysis Bullosa Simplex With Mottled Pigmentation	Plantar hyperkeratosis, Cutaneous photosensitivity, Skin fragility with non-scarring blistering, ...	ORPHA:79397
Combined Malonic And Methylmalonic Aciduria	Dehydration	OMIM:614265
Idiopathic Hypereosinophilic Syndrome	Respiratory distress, Generalized lymphadenopathy, Cholangitis, Pulmonary embolism, Colitis, Coug...	ORPHA:3260
Progressive Familial Intrahepatic Cholestasis	Hepatomegaly, Splenomegaly, Jaundice, Cholestasis, Hypocalcemia, Failure to thrive	ORPHA:172
Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked	Thrombocytopenia, Increased mean platelet volume	OMIM:300048
Proteus Syndrome	Hyperkeratosis, Splenomegaly, Lymphangioma, Depigmentation/hyperpigmentation of skin	OMIM:176920
Chédiak-Higashi Syndrome	Large clumps of pigment irregularly distributed along hair shaft, Vacuolated lymphocytes, Periodo...	ORPHA:167
Cholesteryl Ester Storage Disease	Hepatomegaly, Hypertriglyceridemia, Pruritus, Splenomegaly, Jaundice, Cirrhosis, Hypercholesterol...	ORPHA:75234
Microcephalic Primordial Dwarfism, Montreal Type	Premature graying of hair, Dry skin, Prematurely aged appearance	ORPHA:2617
Complex Regional Pain Syndrome	Dry skin, Edema of the upper limbs, Erythema, Pedal edema	ORPHA:83452
Immunodeficiency 43	Decreased circulating IgG level, Recurrent respiratory infections, Lung abscess, Decreased specif...	OMIM:241600
Hemochromatosis, Type 4	Hepatomegaly, Hyperpigmentation of the skin, Increased circulating ferritin concentration, Elevat...	OMIM:606069
Multicentric Reticulohistiocytosis	Arthritis, Cachexia, Histiocytosis	ORPHA:139436
Sick Sinus Syndrome 1	Prolonged QT interval, Ventricular escape rhythm, Absent P wave, Atrioventricular block, Sinus br...	OMIM:608567
Anemia, Hypochromic Microcytic, With Iron Overload 2	Hepatomegaly, Splenomegaly, Elevated transferrin saturation, Increased circulating ferritin conce...	OMIM:615234
Neuropathy, Congenital Hypomyelinating, 2	Respiratory insufficiency due to muscle weakness, Inability to walk, Hypokinesia	OMIM:618184
Immunodeficiency 15A	Recurrent respiratory infections, Decreased proportion of CD8-positive T cells, Decreased proport...	OMIM:618204
Hemoglobin-Delta locus	Imbalanced hemoglobin synthesis, Anemia	OMIM:142000
Cinca Syndrome	Hepatomegaly, Elevated circulating C-reactive protein concentration, Abnormality of neutrophils, ...	ORPHA:1451
Harderoporphyria	Hepatomegaly, Hemolytic anemia, Reticulocytosis, Increased circulating ferritin concentration, Sp...	OMIM:618892
Protoporphyria, Erythropoietic, 1	Erythema, Edema	OMIM:177000
Sporadic Adult-Onset Ataxia Of Unknown Etiology	Ataxia, Akinesia, Gait ataxia, Dysdiadochokinesis, Shuffling gait, Dysphagia	ORPHA:247234
Autosomal Recessive Generalized Epidermolysis Bullosa Simplex	Pruritus, Palmoplantar hyperkeratosis, Hyperkeratosis, Failure to thrive, Hypopigmentation of the...	ORPHA:89838
Hepatoportal Sclerosis	Elevated hepatic transaminase, Portal hypertension, Nodular regenerative hyperplasia of liver, Po...	ORPHA:64743
Peroxisome Biogenesis Disorder 14B	Dry skin	OMIM:614920
Babesiosis	Hepatomegaly, Hemolytic anemia, Splenomegaly, Jaundice, Recurrent pharyngitis, Respiratory insuff...	ORPHA:108
Netherton Syndrome	Dehydration, Urticaria, Congenital nonbullous ichthyosiform erythroderma, Ichthyosis, Acanthosis ...	ORPHA:634
Ventricular Tachycardia, Catecholaminergic Polymorphic, 1, With Or Without Atrial Dysfunction And/Or Dilated Cardiomyopathy	Paroxysmal atrial fibrillation, Reduced systolic function, Bidirectional ventricular tachycardia,...	OMIM:604772
Striatal Degeneration, Autosomal Dominant 1	Dysdiadochokinesis, Gait disturbance, Hypokinesia	OMIM:609161
Immunodeficiency 36 With Lymphoproliferation	Decreased circulating IgG level, Splenomegaly, Recurrent upper respiratory tract infections, Enla...	OMIM:616005
Squamous Cell Carcinoma Of The Esophagus	Lymphadenopathy, Cough	ORPHA:99977
Congenital Atransferrinemia	Arthritis, Anemia, Abnormality of the pancreas	ORPHA:1195
Pelger-Huet Anomaly	Abnormality of neutrophils, Hyposegmentation of neutrophil nuclei, Giant platelets, Neutropenia, ...	OMIM:169400
Acute Generalized Exanthematous Pustulosis	Elevated hepatic transaminase, Predominantly dermal neutrophilic infiltrate, Neutrophilia, Eosino...	ORPHA:293173
Cole Disease	Hypergranulosis, Punctate palmoplantar hyperkeratosis, Hyperkeratosis, Palmoplantar keratoderma, ...	OMIM:615522
Anemia, Sideroblastic, 2, Pyridoxine-Refractory	Sideroblastic anemia, Increased circulating ferritin concentration, Elevated transferrin saturati...	OMIM:205950
Allergic Bronchopulmonary Aspergillosis	Abnormal eosinophil morphology, Asthma, Bronchiectasis, Respiratory insufficiency, Cough, Pulmona...	ORPHA:1164
Sick Sinus Syndrome 4	Sinoatrial block, Chronotropic incompetence, Abnormal QT interval, Paroxysmal atrial fibrillation...	OMIM:619464
Syndromic Multisystem Autoimmune Disease Due To Itch Deficiency	Acute hepatic failure, Pancytopenia, Failure to thrive in infancy, Cholangitis, Portal hypertensi...	ORPHA:228426
Cog7-Cdg	Elevated hepatic transaminase, Hepatomegaly, Small for gestational age, Elevated circulating crea...	ORPHA:79333
Aicardi-Goutieres Syndrome 5	Dry skin, Scaling skin	OMIM:612952
Combined Oxidative Phosphorylation Deficiency 6	Respiratory insufficiency due to muscle weakness, Hypokinesia	OMIM:300816
Cholestasis, Intrahepatic, Of Pregnancy, 1	Elevated hepatic transaminase, Intrahepatic cholestasis, Jaundice, Abnormal liver function tests ...	OMIM:147480
Leukoencephalopathy, Progressive, Infantile-Onset, With Or Without Deafness	Akinesia, Hypochromic microcytic anemia, Anemia, Death in childhood	OMIM:619147
Angioma Serpiginosum, X-Linked	Hyperkeratosis	OMIM:300652
Whim Syndrome 1	Recurrent upper respiratory tract infections, Bronchiectasis, Decreased circulating antibody leve...	OMIM:193670
Long Qt Syndrome 14	Prolonged QT interval, 2:1 atrioventricular block, Cardiac arrest, T-wave alternans, Prolonged QT...	OMIM:616247
Abetalipoproteinemia	Decreased HDL cholesterol concentration, Cardiomegaly, Hepatic fibrosis, Hypoalbuminemia, Hypocho...	ORPHA:14
Anemia, Nonspherocytic Hemolytic, Possibly Due To Defect In Porphyrin Metabolism	Splenomegaly, Jaundice, Nonspherocytic hemolytic anemia	OMIM:206400
Thyroid Dyshormonogenesis 1	Dry skin	OMIM:274400
Trichohepatoenteric Syndrome 2	Hepatomegaly, Small for gestational age, Decreased serum iron, Chronic hepatitis, Colitis, Cirrho...	OMIM:614602
Neuralgic Amyotrophy	Acrocyanosis, Respiratory insufficiency	ORPHA:2901
Rhabdoid Tumor	Hypercalcemia, Respiratory insufficiency, Weight loss, Anemia, Neoplasm of the liver, Lymphadenop...	ORPHA:69077
Agammaglobulinemia 10, Autosomal Dominant	Recurrent respiratory infections, Transient neutropenia, Agammaglobulinemia, Decreased circulatin...	OMIM:619707
Isolated Sedoheptulokinase Deficiency	Portal hypertension, Neonatal asphyxia, Hepatitis, Cholestasis, Hypochromic microcytic anemia, Ch...	ORPHA:440713
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome	Inflammatory abnormality of the skin, Autoimmune hemolytic anemia, Eczema, Autoimmune thrombocyto...	ORPHA:391487
Dehydrated Hereditary Stomatocytosis	Portal vein thrombosis, Polycythemia, Congenital hemolytic anemia, Abnormal blood potassium conce...	ORPHA:3202
T-Cell Immunodeficiency With Thymic Aplasia	Lymphopenia, Failure to thrive, Aplasia of the thymus, Recurrent bronchopulmonary infections, Rec...	OMIM:242700
Corticobasal Syndrome	Gait disturbance, Akinesia	ORPHA:454887
Leopard Syndrome 2	Dry skin, Webbed neck	OMIM:611554
Prolidase Deficiency	Erythema, Skin ulcer, Dry skin, Hyperkeratosis, Palmoplantar keratoderma, Thin skin, Cutaneous ph...	ORPHA:742
Shwachman-Diamond Syndrome	Normocytic anemia, Sinusitis, Aplastic anemia, Transient neutropenia, Leukopenia, Neutropenia, Pa...	ORPHA:811
Porokeratosis 3, Multiple Types	Parakeratosis, Porokeratosis	OMIM:175900
Central Diabetes Insipidus	Polydipsia, Anorexia, Dehydration	ORPHA:178029
Snakebite Envenomation	Edema, Angioedema, Erythema, Neuromuscular dysphagia, Pseudobulbar paralysis, Ecchymosis	ORPHA:449285
Pulmonary Alveolar Proteinosis, Acquired	Brain abscess, Lung abscess, Cyanosis, Pneumonia, Dyspnea, Inspiratory crackles, Hypoxemia, Restr...	OMIM:610910
Hb Bart'S Hydrops Fetalis	Hepatomegaly, Pericarditis, Abnormal hemoglobin, Splenomegaly, Anemia	ORPHA:163596
Hyper-Ige Syndrome 3, Autosomal Recessive, With Recurrent Infections	Recurrent respiratory infections, Osteomyelitis, Recurrent skin infections, Eczema, Eosinophilia,...	OMIM:618282
Alg12-Cdg	Elevated hepatic transaminase, Abnormal circulating enzyme concentration or activity, Hyponatremi...	ORPHA:79324
Immunodeficiency 22	Decreased circulating IgG level, Pericarditis, Failure to thrive, Abscess, Thrombocytopenia, Recu...	OMIM:615758
Immunodeficiency 57 With Autoinflammation	Recurrent respiratory infections, Failure to thrive, Skin rash, Gastritis, Perianal abscess, Bron...	OMIM:618108
Lichen Planopilaris	Pruritus, Hyperkeratosis, Hypopigmented skin patches, Hepatitis	ORPHA:525
Netherton Syndrome	Decreased circulating IgG level, Recurrent respiratory infections, Parakeratosis, Recurrent skin ...	OMIM:256500
Galactose Epimerase Deficiency	Splenomegaly, Hepatomegaly, Jaundice, Weight loss	ORPHA:79238
Congenital Disorder Of Glycosylation, Type Ia	Elevated hepatic transaminase, Hepatomegaly, Pericarditis, Decreased circulating IgG level, Steat...	OMIM:212065
Cyclic Neutropenia	Sinusitis, Recurrent skin infections, Cyclic neutropenia, Perianal abscess, Respiratory tract inf...	ORPHA:2686
Idiopathic Chronic Eosinophilic Pneumonia	Elevated circulating C-reactive protein concentration, Crackles, Nonproductive cough, Leukocytosi...	ORPHA:2902
Segawa Syndrome, Autosomal Recessive	Hypokinesia, Gait ataxia	OMIM:605407
Beta-Thalassemia Intermedia	Hepatomegaly, Increased HbA2 hemoglobin, Extramedullary hematopoiesis, Anemia of inadequate produ...	ORPHA:231222
Palmoplantar Keratoderma I, Striate, Focal, Or Diffuse	Hypergranulosis, Palmoplantar hyperkeratosis, Orthokeratotic hyperkeratosis, Palmoplantar keratod...	OMIM:148700
Immunodeficiency, Common Variable, 6	Hepatomegaly, Recurrent respiratory infections, Glomerulonephritis, Autoimmune thrombocytopenia, ...	OMIM:613496
Lysinuric Protein Intolerance	Decreased HDL cholesterol concentration, Tubulointerstitial nephritis, Leukopenia, Hepatomegaly, ...	ORPHA:470
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome	Elevated circulating C-reactive protein concentration, Leukopenia, Hashimoto thyroiditis, Hepatom...	OMIM:615688
Diarrhea 2, With Microvillus Atrophy, With Or Without Cholestasis	Dehydration	OMIM:251850
Glycogen Storage Disease Due To Lactate Dehydrogenase M-Subunit Deficiency	Elevated hepatic transaminase, Predominantly dermal neutrophilic infiltrate, Parakeratosis, Super...	ORPHA:284426
Secondary Intestinal Lymphangiectasia	Lymphopenia, Decreased circulating IgG1 level, Reduced circulating transferrin concentration, Chy...	ORPHA:90363
Bernard-Soulier Syndrome	Gastrointestinal hemorrhage, Spontaneous, recurrent epistaxis, Hematemesis, Decreased platelet gl...	ORPHA:274
Polycythemia Vera	Gastrointestinal hemorrhage, Hepatomegaly, Angina pectoris, Epistaxis, Portal hypertension, Pulmo...	ORPHA:729
Progressive Familial Heart Block, Type Ii	Sudden cardiac death, Atrioventricular block, Complete heart block with narrow QRS complexes, Sin...	OMIM:140400
Glycogen Storage Disease With Severe Cardiomyopathy Due To Glycogenin Deficiency	ST segment elevation, Ventricular tachycardia, Right bundle branch block, Cardiomyopathy, Abnorma...	ORPHA:263297
Ebstein Anomaly	Atrial fibrillation, Sudden cardiac death, Atrial standstill, Ventricular preexcitation, Right bu...	OMIM:224700
Bile Acid Conjugation Defect 1	Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Jaundice, Elevated c...	OMIM:619232
Farber Lipogranulomatosis	Hepatomegaly, Splenomegaly, Lipogranulomatosis, Respiratory insufficiency, Arthritis, Decreased a...	OMIM:228000
Primary Intestinal Lymphangiectasia	Decreased circulating IgG level, Peritoneal effusion, Weight loss, Decreased circulating antibody...	ORPHA:90362
Myeloproliferative/Lymphoproliferative Neoplasms, Familial (Multiple Types), Susceptibility To	Acute myeloid leukemia, Refractory anemia, Eczema, Asthma, Leukopenia, Monocytosis, Bone marrow h...	OMIM:616871
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative	Impaired lymphocyte transformation with phytohemagglutinin, Absent natural killer cells, Failure ...	OMIM:600802
Isobutyryl-Coa Dehydrogenase Deficiency	Dehydration	ORPHA:79159
Epidermodysplasia Verruciformis, Susceptibility To, 4	Facial erythema	OMIM:618307
Immunodeficiency, Common Variable, 3	Recurrent respiratory infections, Decreased proportion of class-switched memory B cells, Decrease...	OMIM:613493
Vitamin B12-Responsive Methylmalonic Acidemia	Hepatomegaly, Respiratory insufficiency, Hyperammonemia, Failure to thrive, Anemia	ORPHA:28
Hypercarotenemia And Vitamin A Deficiency, Autosomal Recessive	Follicular hyperkeratosis	OMIM:277350
Autoimmune Polyendocrine Syndrome, Type Ii	Asplenia, Hepatitis, Chronic mucocutaneous candidiasis, Chronic hepatitis, Keratoconjunctivitis, ...	OMIM:269200
Acrokeratosis Verruciformis Of Hopf	Hyperkeratosis, Punctate palmoplantar hyperkeratosis, Parakeratosis, Acantholysis	ORPHA:79151
Sporadic Creutzfeldt-Jakob Disease	Gliosis, Astrocytosis	ORPHA:204
Huntington Disease	Aggressive behavior, Oral-pharyngeal dysphagia, Inability to walk, Addictive alcohol use, Agitati...	ORPHA:399
Bone Marrow Failure Syndrome 4	Recurrent respiratory infections, Eczema, Decreased circulating antibody level, Anemia, Leukopeni...	OMIM:618116
Immunodeficiency, Partial Combined, With Absence Of Hla Determinants And Beta-2-Microglobulin From Lymphocytes	T lymphocytopenia, Decreased circulating IgG level	OMIM:242870
Pleural Mesothelioma	Respiratory distress, Hepatomegaly, Abnormal pleura morphology, Dyspnea, Abnormal lung morphology...	ORPHA:50251
Interstitial Pneumonitis, Desquamative, Familial	Respiratory distress, Cyanosis, Tachypnea, Respiratory failure, Cough	OMIM:263000
Bilateral Striopallidodentate Calcinosis	Hepatomegaly, Abnormality of the liver, Thrombocytopenia	ORPHA:1980
Myasthenia Gravis	Hemolytic anemia, Myositis, Pure red cell aplasia, Dyspnea, Hepatitis, Abnormal thymus morphology...	ORPHA:589
Cholestasis, Progressive Familial Intrahepatic, 2	Hepatomegaly, Conjugated hyperbilirubinemia, Intrahepatic cholestasis, Pruritus, Splenomegaly, In...	OMIM:601847
Aicardi-Goutieres Syndrome 4	Elevated hepatic transaminase, Hepatomegaly, Pancytopenia, Splenomegaly, Respiratory insufficienc...	OMIM:610333
Congenital Disorder Of Glycosylation, Type Iir	Elevated hepatic transaminase, Hepatomegaly, Decreased proportion of CD4-positive T cells, Jaundi...	OMIM:301045
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome	Reticulocytosis, HbS hemoglobin, Asplenia, Splenomegaly, Splenic infarction, Hypochromic microcyt...	ORPHA:251380
Brugada Syndrome 9	Prolonged QT interval, ST segment elevation, Palpitations, Presyncope	OMIM:616399
Congenital Myopathy 7B, Myosin Storage, Autosomal Recessive	Right axis deviation, Elevated jugular venous pressure, Elevated circulating creatine kinase conc...	OMIM:255160
Hypereosinophilic Syndrome, Idiopathic	Hepatomegaly, Eosinophilia, Pruritus, Splenomegaly, Myeloproliferative disorder	OMIM:607685
Hypothyroidism, Congenital, Nongoitrous, 4	Dry skin	OMIM:275100
Congenital Disorder Of Glycosylation, Type Iip	Elevated hepatic transaminase, Elevated circulating alkaline phosphatase concentration, Hepatic s...	OMIM:616829
Wolman Disease	Hepatomegaly, Bone-marrow foam cells, Cachexia, Splenomegaly, Ascites, Steatorrhea, Hepatic failu...	ORPHA:75233
Brown-Vialetto-Van Laere Syndrome 2	Ataxia, Aggressive behavior, Respiratory insufficiency, Dysphagia, Hypokinesia	OMIM:614707
Sarcoidosis, Susceptibility To, 2	Hepatomegaly, Erythema nodosum, Splenomegaly, Dyspnea, Pneumothorax, Mediastinal lymphadenopathy,...	OMIM:612387
Myoclonic-Astatic Epilepsy	Premature skin wrinkling, Hyperactivity, Attention deficit hyperactivity disorder	ORPHA:1942
Long Qt Syndrome 6	Prolonged QT interval, Cardiac arrest, Sudden cardiac death, Syncope, Torsade de pointes, Prolong...	OMIM:613693
Storage Pool Platelet Disease	Decreased mean platelet volume, Acute leukemia	OMIM:185050
Congenital Rubella Syndrome	Hepatomegaly, Abnormality of retinal pigmentation, Skin rash, Thrombocytopenia, Patent ductus art...	ORPHA:290
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 1	Pancytopenia, Aplastic anemia, Crackles, Dyspnea, Usual interstitial pneumonia, Mediastinal lymph...	OMIM:614742
Congenital Disorder Of Glycosylation, Type It	Elevated hepatic transaminase, Hepatomegaly, Elevated circulating aspartate aminotransferase conc...	OMIM:614921
Rift Valley Fever	Elevated hepatic transaminase, Skin rash, Thrombocytopenia, Jaundice, Hepatitis, Uveitis, Increas...	ORPHA:319251
Bathing Suit Ichthyosis	Parakeratosis, Thickened skin, Palmoplantar hyperkeratosis, Palmoplantar scaling skin, Scaling sk...	ORPHA:100976
Pulmonary Edema Of Mountaineers, Susceptibility To	Elevated pulmonary artery pressure	OMIM:178400
Interstitial Granulomatous Dermatitis With Arthritis	Erythema	ORPHA:79099
Long Qt Syndrome 9	Prolonged QT interval, Cardiac arrest, Sinus bradycardia, Syncope, Abnormal U wave, Ventricular a...	OMIM:611818
Neonatal Alloimmune Neutropenia	Jaundice, Neutropenia in presence of anti-neutropil antibodies, Pneumonia	ORPHA:464370
Lipoid Proteinosis Of Urbach And Wiethe	Hyperkeratosis, Thickened skin, Aggressive behavior	OMIM:247100
Hemochromatosis, Type 2A	Hepatomegaly, Increased circulating ferritin concentration, Splenomegaly, Arthritis, Increased se...	OMIM:602390
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 7	Astrocytosis	OMIM:600795
Autoinflammation, Panniculitis, And Dermatosis Syndrome	Neutrophilia, Skin rash, Failure to thrive in infancy, Elevated circulating C-reactive protein co...	OMIM:617099
Dehydrated Hereditary Stomatocytosis 2	Hepatomegaly, Hemolytic anemia, Reticulocytosis, Acanthocytosis, Splenomegaly, Jaundice, Increase...	OMIM:616689
Graham Little-Piccardi-Lassueur Syndrome	Perifollicular hyperkeratosis	ORPHA:505
Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis	Hepatomegaly, Parakeratosis, Portal hypertension, Pruritus, Splenomegaly, Jaundice, Cholestasis, ...	OMIM:607626
Immunodeficiency 70	Decreased circulating total IgG, Decreased circulating antibody level, Decreased circulating tota...	OMIM:618969
Alstrom Syndrome	Elevated hepatic transaminase, Hepatomegaly, Decreased HDL cholesterol concentration, Chronic act...	OMIM:203800
Agammaglobulinemia 7, Autosomal Recessive	Recurrent respiratory infections, Erythema nodosum, Agammaglobulinemia, Neutropenia, Reduced natu...	OMIM:615214
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency	Decreased HDL cholesterol concentration, Hypoalbuminemia, Elevated gamma-glutamyltransferase leve...	ORPHA:247598
Combined Oxidative Phosphorylation Deficiency 47	Dehydration, Dysphagia	OMIM:618958
Wilson Disease	Acute hepatic failure, Decreased circulating ceruloplasmin concentration, Osteoarthritis, Hypoalb...	OMIM:277900
Mixed Connective Tissue Disease	Hepatomegaly, Myositis, Pericarditis, Skin rash, Gastritis, Hemolytic anemia, Myocarditis, Spleno...	ORPHA:809
Immunodeficiency With Hyper-Igm, Type 5	Impaired Ig class switch recombination, Epididymitis, Lymphadenopathy, Increased circulating IgM ...	OMIM:608106
Late-Onset Isolated Acth Deficiency	Hyponatremia, Normocytic anemia, Decreased circulating cortisol level, Macrocytic anemia, Hyperca...	ORPHA:199299
Tempi Syndrome	Transudative pleural effusion, Hypoxemia, Increased circulating IgG level, Increased hematocrit, ...	ORPHA:284227
Crimean-Congo Hemorrhagic Fever	Elevated circulating creatine kinase concentration, Leukopenia, Increased circulating IgG level, ...	ORPHA:99827
Coccidioidomycosis	Respiratory distress, Abnormality of the spleen, Increased circulating IgG level, Abnormality of ...	ORPHA:228123
Autoinflammation With Pulmonary And Cutaneous Vasculitis	Hepatomegaly, Splenomegaly, Recurrent upper respiratory tract infections, Restrictive ventilatory...	OMIM:620296
Immunodeficiency 42	Hepatomegaly, Splenomegaly, Recurrent cutaneous fungal infections, Hypoplasia of the thymus, Recu...	OMIM:616622
Lipodystrophy, Congenital Generalized, Type 3	Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Hepatosplenomegaly, Hypocalcemia, Acanthosis ni...	OMIM:612526
Immunodeficiency, Common Variable, 12, With Autoimmunity	Recurrent sinopulmonary infections, Atrophic gastritis, Autoimmune hemolytic anemia, Recurrent sk...	OMIM:616576
Congenital Disorder Of Glycosylation, Type Iic	Neutrophilia, Pneumonia, Bronchiolitis, Periodontitis, Reduction of neutrophil motility, Recurren...	OMIM:266265
Wolff-Parkinson-White Syndrome	Wolff-Parkinson-White syndrome, Atrial flutter, Paroxysmal atrial fibrillation, Prolonged QRS com...	OMIM:194200
Lichen Planus Pemphigoides	Skin vesicle, Hyperkeratosis	ORPHA:254478
Cardiomyopathy-Hypotonia-Lactic Acidosis Syndrome	Respiratory distress, Cyanosis	ORPHA:91130
Arthrogryposis Multiplex Congenita 5	Normocytic anemia, Death in infancy, Neonatal respiratory distress, Akinesia, Acanthocytosis, Res...	OMIM:618947
Autoimmune Disease, Multisystem, Infantile-Onset, 1	Autoimmune hemolytic anemia, Eczema, Autoimmune thrombocytopenia, Desquamative interstitial pneum...	OMIM:615952
Fragile Site, Distamycin A Type, Rare, Fra(16)(Q22.1)	Abnormal lymph node morphology	OMIM:136580
Sunct Syndrome	Restlessness, Palpebral edema, Facial edema, Facial erythema, Agitation, Flushing	ORPHA:57145
Cholestasis, Progressive Familial Intrahepatic, 3	Elevated hepatic transaminase, Hepatomegaly, Pruritus, Intrahepatic cholestasis, Jaundice, Portal...	OMIM:602347
Simple Cryoglobulinemia	Viral hepatitis, Pericarditis, Membranoproliferative glomerulonephritis, Monoclonal elevation of ...	ORPHA:91139
Familial Melanoma	Dry skin	ORPHA:618
Congenital Bile Acid Synthesis Defect Type 4	Elevated hepatic transaminase, Giant cell hepatitis, Abnormal circulating enzyme concentration or...	ORPHA:79095
Galactokinase Deficiency	Hepatomegaly, Abnormal circulating enzyme concentration or activity, Small for gestational age, N...	ORPHA:79237
Acute Interstitial Pneumonia	Peribronchovascular interstitial thickening, Nodular pattern on pulmonary HRCT, Elevated circulat...	ORPHA:79126
Propionic Acidemia	Hepatomegaly, Pancytopenia, Apnea, Eczema, Thrombocytopenia, Tachypnea, Hyperammonemia, Hyperglyc...	OMIM:606054
Glycogen Storage Disease Xii	Normocytic anemia, Hepatomegaly, Elevated circulating creatine kinase concentration, Splenomegaly...	OMIM:611881
Tylosis With Esophageal Cancer	Diffuse palmoplantar hyperkeratosis, Parakeratosis, Follicular hyperkeratosis	OMIM:148500
Familial Isolated Restrictive Cardiomyopathy	Hepatomegaly, Orthopnea, Tricuspid regurgitation, Atrial fibrillation, Supraventricular arrhythmi...	ORPHA:75249
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2	Pneumonia, Recurrent upper respiratory tract infections, Decreased circulating antibody level, De...	OMIM:614069
Thalassemia, Beta+, Silent Allele	Reduced beta/alpha synthesis ratio	OMIM:187550
Cardiomyopathy, Dilated, 1G	Atrial fibrillation, Congestive heart failure, Dilated cardiomyopathy, Ventricular tachycardia, A...	OMIM:604145
Elastosis Perforans Serpiginosa	Hyperkeratotic papule, Cutis laxa	ORPHA:79148
Chronic Pneumonitis Of Infancy	Respiratory distress, Cyanosis, Intercostal retractions, Reduced forced vital capacity, Tachypnea...	ORPHA:91359
Immunodeficiency With Hyper-Igm, Type 2	Recurrent respiratory infections, Impaired Ig class switch recombination, Lymphadenopathy, Increa...	OMIM:605258
Infantile Cataract, Skin Abnormalities, Glutamate Excess, And Impaired Intellectual Development	Hyperkeratosis, Parakeratosis, Agitation, Self-injurious behavior	OMIM:618339
Gaucher Disease, Type Iii	Hepatomegaly, Pancytopenia, Splenomegaly, Decreased beta-glucocerebrosidase level, Decreased body...	OMIM:231000
Roifman Syndrome	Eosinophilia, Eczema, Recurrent pneumonia, Hepatosplenomegaly, Decreased circulating antibody lev...	ORPHA:353298
Mucopolysaccharidosis-Plus Syndrome	Respiratory distress, Hepatomegaly, Recurrent respiratory infections, Thrombocytopenia, Patent du...	OMIM:617303
Infantile Sialic Acid Storage Disease	Hepatomegaly, Failure to thrive, Fair hair, Cardiomegaly, Conjugated hyperbilirubinemia, Splenome...	OMIM:269920
Lymphedema And Cerebral Arteriovenous Anomaly	Pulmonary arterial hypertension	OMIM:152900
Immunodeficiency 31C	Impaired lymphocyte transformation with phytohemagglutinin, Hepatomegaly, Lymphopenia, Osteomyeli...	OMIM:614162
Hepatorenocardiac Degenerative Fibrosis	Elevated hepatic transaminase, Portal hypertension, Hypersplenism, Jaundice, Hepatosplenomegaly, ...	OMIM:619902
Caroli Disease	Liver abscess, Cholangitis, Conjugated hyperbilirubinemia, Hepatic fibrosis, Elevated gamma-gluta...	ORPHA:53035
Schopf-Schulz-Passarge Syndrome	Hyperkeratosis, Ectodermal dysplasia, Palmoplantar keratoderma, Dry skin	OMIM:224750
Bile Acid Synthesis Defect, Congenital, 2	Elevated hepatic transaminase, Hepatomegaly, Failure to thrive, Intrahepatic cholestasis, Jaundic...	OMIM:235555
Trichodysplasia-Xeroderma Syndrome	Dry skin	ORPHA:3361
Polycythemia Vera	Splenomegaly, Leukocytosis, Increased hemoglobin, Increased red blood cell mass, Increased hemato...	OMIM:263300
Phenylketonuria	Dry skin	OMIM:261600
Lymphangiectasia, Intestinal	Lymphopenia, Stillbirth, Intestinal lymphangiectasia, Decreased circulating IgG level, Neonatal h...	OMIM:152800
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis	Anisocytosis, Cardiomegaly, Microvesicular hepatic steatosis, Tachypnea, Hepatocellular necrosis,...	OMIM:618278
Thanatophoric Dysplasia, Glasgow Variant	Neonatal death, Anemia, Hepatosplenomegaly	OMIM:273680
Darier Disease	Acrokeratosis, Thickened skin, Palmoplantar keratoderma, Skin vesicle, Subungual hyperkeratotic f...	ORPHA:218
Retinal Dystrophy, Iris Coloboma, And Comedogenic Acne Syndrome	Patent ductus arteriosus, Comedonal acne, Decreased retinol-binding protein level, Follicular hyp...	OMIM:615147
Odontoonychodermal Dysplasia	Plantar hyperkeratosis, Hypergranulosis, Erythema, Palmoplantar hyperkeratosis, Follicular hyperk...	OMIM:257980
Tangier Disease	Orange discolored tonsils, Hypertriglyceridemia, Chronic noninfectious lymphadenopathy, Hepatospl...	ORPHA:31150
Fetal Hemoglobin Quantitative Trait Locus 1	Persistence of hemoglobin F	OMIM:141749
Hypocomplementemic Urticarial Vasculitis	Episcleritis, Hepatomegaly, Skin rash, Pruritus, Splenomegaly, Dyspnea, Uveitis, Lymphadenopathy,...	ORPHA:36412
Ichthyosis, Hystrix-Like, With Deafness	Palmoplantar hyperkeratosis, Hyperkeratosis, Cobblestone-like hyperkeratosis, Palmoplantar kerato...	OMIM:602540
Cholestasis-Lymphedema Syndrome	Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Hyperlipidemia, Biliary tract abnormal...	ORPHA:1414
Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia	Sinusitis, Pneumonia, Enteroviral hepatitis, Prostatitis, Epididymitis, Panhypogammaglobulinemia,...	OMIM:307200
Hereditary Spherocytosis	Hepatomegaly, Reticulocytosis, Extramedullary hematopoiesis, Maculopapular exanthema, Spontaneous...	ORPHA:822
Portal Hypertension, Noncirrhotic, 2	Elevated hepatic transaminase, Hepatomegaly, Epistaxis, Portal hypertension, Nodular regenerative...	OMIM:619463
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0	Respiratory distress, Hepatomegaly, Thrombocytopenia, Hyperammonemia, Neutropenia, Pancreatitis, ...	ORPHA:289916
Familial Infantile Bilateral Striatal Necrosis	Basal ganglia gliosis, Astrocytosis	ORPHA:225154
Hereditary Late-Onset Parkinson Disease	Akinesia, Impulsivity, Agitation, Shuffling gait, Dysphagia	ORPHA:411602
Hypothyroidism, Congenital, Nongoitrous, 6	Dry skin	OMIM:614450
Desmoplastic Small Round Cell Tumor	Abnormal peritoneum morphology, Hepatomegaly, Neoplasm of the pancreas, Cachexia, Mediastinal lym...	ORPHA:83469
Galactosemia I	Hepatomegaly, Hemolytic anemia, Elevated circulating aspartate aminotransferase concentration, El...	OMIM:230400
Glycogen Storage Disease Ixa1	Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Hyperuricemia, H...	OMIM:306000
Gaucher Disease	Hepatomegaly, Pancytopenia, Osteomyelitis, Elevated circulating C-reactive protein concentration,...	ORPHA:355
Follicular Lymphoma	Abnormal peritoneum morphology, Splenomegaly, Mediastinal lymphadenopathy, Weight loss, Lymphaden...	ORPHA:545
Mendelian Susceptibility To Mycobacterial Diseases Due To Partial Irf8 Deficiency	Lymphadenopathy	ORPHA:319600
Muckle-Wells Syndrome	Episcleritis, Hepatomegaly, Skin rash, Splenomegaly, Uveitis, Arthritis, Restrictive ventilatory ...	ORPHA:575
Vitamin B12-Unresponsive Methylmalonic Acidemia	Hepatomegaly, Macrocytic anemia, Thrombocytopenia, Hyperammonemia, Respiratory insufficiency, Leu...	ORPHA:27
Polyarteritis Nodosa	Erythema, Cutis marmorata, Skin ulcer	ORPHA:767
Pituitary Adenoma 4, Acth-Secreting	Poor wound healing, Edema, Facial erythema, Thin skin, Ecchymosis, Bruising susceptibility, Stria...	OMIM:219090
Staphylococcal Necrotizing Pneumonia	Respiratory distress, Neutrophilia, Pneumonia, Elevated circulating C-reactive protein concentrat...	ORPHA:36238
Combined Immunodeficiency Due To Crac Channel Dysfunction	Hepatomegaly, Hemolytic anemia, Pneumonia, Splenomegaly, Lymphadenopathy, Chronic otitis media, T...	ORPHA:169090
Osteopetrosis, Autosomal Recessive 8	Hepatomegaly, Splenomegaly, Anemia, Failure to thrive, Thrombocytopenia	OMIM:615085
Infantile Liver Failure Syndrome 1	Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Macrocytic anemia, Failure to...	OMIM:615438
Isolated Congenital Hypoglossia/Aglossia	Respiratory distress, Dyspnea, Upper airway obstruction, Weight loss, Aspiration pneumonia	ORPHA:141152
Systemic Mastocytosis With Associated Hematologic Neoplasm	Normocytic anemia, Hepatomegaly, Acute myeloid leukemia, Neutrophilia, Eosinophilia, Pruritus, Sp...	ORPHA:98849
Inflammatory Skin And Bowel Disease, Neonatal, 2	Polyhydramnios, Dehydration	OMIM:616069
Inflammatory Bowel Disease, Immunodeficiency, And Encephalopathy	Recurrent respiratory infections, Eosinophilic infiltration of the esophagus, Perianal abscess, L...	OMIM:618213
Pediatric Systemic Lupus Erythematosus	Lymphopenia, Myositis, Skin rash, Discoid lupus rash, Dyspnea, Lymphadenopathy, Arthritis, Leukop...	ORPHA:93552
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 2	Elevated hepatic transaminase, Hepatomegaly, Sideroblastic anemia, Respiratory distress, Respirat...	OMIM:613561
Hereditary Methemoglobinemia	Athetosis, Cyanosis, Methemoglobinemia, Exertional dyspnea	ORPHA:621
Thrombocytopenia 1	Epistaxis, Decreased mean platelet volume, Intermittent thrombocytopenia, Joint hemorrhage, Conge...	OMIM:313900
Wiskott-Aldrich Syndrome 2	Eczema, Reduced natural killer cell activity, Decreased proportion of CD8-positive T cells, Defec...	OMIM:614493
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells	Pancytopenia, Decreased helper T cell proportion, Hypersplenism, Splenomegaly, Cutaneous anergy	OMIM:183350
Red Cell Phospholipid Defect With Hemolysis	Splenomegaly, Reticulocytosis, Hyperbilirubinemia, Intermittent jaundice	OMIM:179700
Peroxisome Biogenesis Disorder 3B	Hepatomegaly, Elevated circulating phytanic acid concentration, Steatorrhea, Failure to thrive, H...	OMIM:266510
Castleman Disease	Increased circulating interleukin 6 concentration, Generalized lymphadenopathy, Abdominal mass, E...	ORPHA:160
Idiopathic Pulmonary Arterial Hypertension	Tricuspid regurgitation, Increased pulmonary vascular resistance, Congestive heart failure, Dyspn...	ORPHA:275766
Progressive Non-Fluent Aphasia	Neurofibrillary tangles, Lewy bodies, Astrocytosis	ORPHA:100070
Protoporphyria, Erythropoietic, X-Linked	Elevated hepatic transaminase, Iron deficiency anemia, Cholelithiasis	OMIM:300752
Niemann-Pick Disease, Type C2	Death in infancy, Neonatal respiratory distress, Ataxia, Bone-marrow foam cells, Splenomegaly, Ja...	OMIM:607625
Congenital Disorder Of Glycosylation, Type Iij	Elevated hepatic transaminase, Hepatomegaly, Failure to thrive, Recurrent respiratory infections,...	OMIM:613489
Neutral Lipid Storage Disease With Myopathy	Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Elevated circulating creatine ...	OMIM:610717
Mutilating Palmoplantar Keratoderma With Periorificial Keratotic Plaques	Thickened skin, Erythema, Palmoplantar keratoderma, Skin ulcer	ORPHA:659
Roifman Syndrome	Hepatomegaly, Eosinophilia, Eczema, Splenomegaly, Recurrent pneumonia, Lymphadenopathy, Recurrent...	OMIM:616651
Tyrosinemia Type 1	Acute hepatic failure, Hepatomegaly, Splenomegaly, Hepatocellular carcinoma	ORPHA:882
Hepatic Veno-Occlusive Disease	Elevated hepatic transaminase, Hepatomegaly, Jaundice, Increased body weight, Respiratory failure...	ORPHA:890
Mcleod Syndrome	Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Elevated circulating...	OMIM:300842
Acne Inversa, Familial, 2, With Or Without Dowling-Degos Disease	Recurrent cutaneous abscess formation, Perifolliculitis, Chronic furunculosis, Follicular hyperke...	OMIM:613736
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome	Abnormal circulating enzyme concentration or activity, Respiratory insufficiency due to muscle we...	ORPHA:2590
Complete Atrioventricular Septal Defect	Hepatomegaly, Abnormal EKG, Left-to-right shunt, Intercostal retractions, Tachycardia, Crackles, ...	ORPHA:1329
Cholestasis, Progressive Familial Intrahepatic, 8	Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Portal hypertension,...	OMIM:619662
Transcobalamin Deficiency	Lymphopenia, Pancytopenia, Decreased circulating antibody level, Decreased circulating total IgM,...	ORPHA:859
Autoinflammatory Disease, Systemic, X-Linked	Anterior uveitis, Complete or near-complete absence of specific antibody response to unconjugated...	OMIM:301081
Severe Combined Immunodeficiency Due To Dclre1C Deficiency	Decreased circulating IgG level, Skin rash, Decreased circulating IgA level, Recurrent aphthous s...	ORPHA:275
Erythrocytosis, Familial, 1	Splenomegaly, Increased hemoglobin, Increased red blood cell mass, Increased hematocrit, Exertion...	OMIM:133100
Cholestasis, Progressive Familial Intrahepatic, 1	Hepatomegaly, Intrahepatic cholestasis with episodic jaundice, Epistaxis, Conjugated hyperbilirub...	OMIM:211600
Glutamine Deficiency, Congenital	Neonatal death, Erythema	OMIM:610015
Fixed Drug Eruption	Erythema, Generalized abnormality of skin	ORPHA:293812
Aceruloplasminemia	Refractory anemia, Ataxia, Akinesia, Limb ataxia, Hypochromic microcytic anemia, Gait ataxia	ORPHA:48818
Choanal Atresia	Respiratory distress, Cyanosis, Upper airway obstruction, Choking episodes, Tracheomalacia, Chron...	ORPHA:137914
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency	Hypertriglyceridemia, Hepatitis, Cholestasis, Obesity, Increased LDL cholesterol concentration, A...	ORPHA:209902
Cardiogenic Shock	Abnormal EKG, Increased pulmonary capillary wedge pressure, Cardiac arrest, Myocardial infarction...	ORPHA:97292
Hyper-Ige Syndrome 1, Autosomal Dominant, With Recurrent Infections	Recurrent sinopulmonary infections, Skin rash, Eosinophilia, Recurrent pneumonia, Increased circu...	OMIM:147060
Gaucher Disease Type 1	Hepatomegaly, Pancytopenia, Hypersplenism, Thrombocytopenia, Osteoarthritis, Splenomegaly, Abnorm...	ORPHA:77259
Combined Oxidative Phosphorylation Deficiency 34	Hepatomegaly, Pancytopenia, Failure to thrive, Elevated circulating creatinine concentration, Inc...	OMIM:617872
Pulmonary Hypertension, Primary, 5	Angina pectoris, Right ventricular failure, Syncope, Pulmonary arterial hypertension, Exertional ...	OMIM:265400
Chronic Mucocutaneous Candidiasis	Recurrent respiratory infections, Skin rash, Pruritus, Cheilitis, Hepatitis, Hyperkeratosis, Cough	ORPHA:1334
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase	Cyanosis, Methemoglobinemia, Polycythemia, Exertional dyspnea	OMIM:250800
Medium Chain 3-Ketoacyl-Coa Thiolase Deficiency	Neonatal death, Dehydration	OMIM:602199
Beta-Thalassemia Major	Hepatomegaly, Extramedullary hematopoiesis, Decreased mean corpuscular hemoglobin concentration, ...	ORPHA:231214
Leptospirosis	Respiratory distress, Hepatomegaly, Pericarditis, Skin rash, Jaundice, Hepatitis, Uveitis, Lympha...	ORPHA:509
Spondyloenchondrodysplasia	Pancytopenia, Autoimmune hemolytic anemia, Skin rash, Pneumonia, Autoimmune thrombocytopenia, Hep...	ORPHA:1855
H Syndrome	Hypertriglyceridemia, Psoriasiform dermatitis, Hyperpigmentation of the skin, Microcytic anemia, ...	ORPHA:168569
Progressive Supranuclear Palsy-Corticobasal Syndrome	Respiratory distress, Diminished movement, Dysphagia	ORPHA:240103
Behavioral Variant Of Frontotemporal Dementia	Astrocytosis	ORPHA:275864
Congenital Bile Acid Synthesis Defect Type 3	Elevated circulating aspartate aminotransferase concentration, Jaundice, Elevated circulating ala...	ORPHA:79302
Atelis Syndrome 1	Eczema, Decreased lymphocyte proliferation in response to anti-CD3, Bronchiectasis, Anemia, Leuko...	OMIM:620184
Surfactant Metabolism Dysfunction, Pulmonary, 1	Death in infancy, Neonatal respiratory distress, Cyanosis, Apnea, Dyspnea, Tachypnea, Respiratory...	OMIM:265120
Asbestos Intoxication	Reduced vital capacity, Cyanosis, Reduced forced vital capacity, Nonproductive cough, Dyspnea, Wh...	ORPHA:2302
Loeffler Endocarditis	Aortic regurgitation, Pericarditis, Eosinophilia, Left ventricular diastolic dysfunction, Congest...	ORPHA:75566
Eosinophilic Gastroenteritis	Allergic rhinitis, Elevated circulating C-reactive protein concentration, Eosinophilia, Leukocyto...	ORPHA:2070
Hereditary Amyloidosis With Primary Renal Involvement	Decreased circulating apolipoprotein A-I concentration, Hepatomegaly, Decreased HDL cholesterol c...	ORPHA:85450
Good Syndrome	Abnormal leukocyte morphology, Recurrent respiratory infections, Sinusitis, Recurrent skin infect...	ORPHA:169105
Craniofaciofrontodigital Syndrome	Prominent superficial veins, Polyhydramnios, Edema, Pericardial effusion, Cutis laxa, Lower eyeli...	ORPHA:363705
Olmsted Syndrome 2	Parakeratosis, Perioral hyperkeratosis, Palmoplantar hyperkeratosis, Hyperkeratosis, Palmoplantar...	OMIM:619208
Spinocerebellar Ataxia Type 12	Ataxia, Unsteady gait, Gait disturbance, Limb dysmetria, Hypokinesia	ORPHA:98762
Ichthyosis-Alopecia-Eclabion-Ectropion-Intellectual Disability Syndrome	Dry skin, Scaling skin, Cutis laxa	ORPHA:2269
Ehlers-Danlos Syndrome With Platelet Dysfunction From Fibronectin Abnormality	Bruising susceptibility, Petechiae, Thin skin, Striae distensae	OMIM:225310
Neutropenia, Severe Congenital, 1, Autosomal Dominant	Congenital agranulocytosis, Acute monocytic leukemia, Eosinophilia, Monocytosis, Increased circul...	OMIM:202700
Ifap Syndrome 2	Ichthyosis follicularis, Perioral erythema	OMIM:619016
Iga Pemphigus	Skin vesicle, Generalized abnormality of skin, Acantholysis	ORPHA:555905
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism	Hepatomegaly, Increased circulating thyroglobulin level, Portal hypertension, Pancreatic cysts, S...	OMIM:610199
Gaucher Disease Type 2	Respiratory distress, Hepatomegaly, Recurrent respiratory infections, Splenomegaly, Cough, Abnorm...	ORPHA:77260
Methylmalonic Aciduria And Homocystinuria, Cblf Type	Methylmalonic acidemia, Hepatomegaly, Decreased methionine synthase activity, Pancytopenia, Skin ...	OMIM:277380
Recon Progeroid Syndrome	Progeroid facial appearance, Livedo reticularis, Cutaneous photosensitivity, Scaling skin, Thin s...	OMIM:620370
Hepatitis, Fulminant Viral, Susceptibility To	Elevated hepatic transaminase, Hepatomegaly, Jaundice, Fulminant hepatitis, Hepatic failure, Hash...	OMIM:618549
Intermediate Nemaline Myopathy	Respiratory failure, Hypokinesia, Difficulty walking, Dysphagia	ORPHA:171433
Developmental And Epileptic Encephalopathy 37	Choreoathetosis, Gait disturbance, Hypokinesia	OMIM:616981
Adenocarcinoma Of The Esophagus	Lymphadenopathy, Obesity, Cough	ORPHA:99976
Acute Radiation Syndrome	Inflammatory abnormality of the skin, Hyperpigmentation of the skin, Hyperkeratosis, Interstitial...	ORPHA:454831
Autosomal Dominant Severe Congenital Neutropenia	Acute myeloid leukemia, Recurrent sinopulmonary infections, Recurrent skin infections, Pneumonia,...	ORPHA:486
Familial Keratoacanthoma	Hyperkeratosis, Skin ulcer	ORPHA:493
Lymphatic Malformation 12	Nonimmune hydrops fetalis, Fetal ascites, Polyhydramnios, Lymphedema, Hyperkeratosis, Neonatal death	OMIM:620014
Brugada Syndrome 3	Atrial fibrillation, J wave, Sudden cardiac death, Shortened QT interval, Syncope, Ventricular ar...	OMIM:611875
Geroderma Osteodysplasticum	Premature skin wrinkling, Neonatal wrinkled skin of hands and feet, Progeroid facial appearance, ...	OMIM:231070
Mitochondrial Complex I Deficiency, Nuclear Type 28	Choreoathetosis, Akinesia, Truncal ataxia	OMIM:618249
Obesity-Hypoventilation Syndrome	Hypoventilation, Cyanosis	OMIM:257500
Familial Short Qt Syndrome	Atrial fibrillation, Sudden cardiac death, Shortened QT interval, Atrioventricular block, Syncope...	ORPHA:51083
Drug-Induced Lupus Erythematosus	Pericarditis, Decreased circulating complement C4 concentration, Elevated circulating creatine ki...	ORPHA:231111
Galactose Mutarotase Deficiency	Hepatomegaly, Abnormal circulating enzyme concentration or activity, Cholestasis, Hypergalactosem...	ORPHA:570422
Hyper-Ige Syndrome 4B, Autosomal Recessive, With Recurrent Infections	Recurrent respiratory infections, Eosinophilia, Eczema, Keratitis, Increased circulating IgE leve...	OMIM:618523
Cutis Laxa, Autosomal Dominant 3	Premature skin wrinkling, Cutis laxa, Dermal translucency	OMIM:616603
Ichthyosis Prematurity Syndrome	Dermatographic urticaria, Polyhydramnios, Generalized ichthyosis, Follicular hyperkeratosis	OMIM:608649
Lysinuric Protein Intolerance	Hepatomegaly, Hypolysinemia, Increased circulating ferritin concentration, Thrombocytopenia, Sple...	OMIM:222700
Angioedema, Hereditary, 1	Intestinal edema, Pharyngeal edema, Periorbital edema, Laryngeal edema, Angioedema, Erythema	OMIM:106100
Gallbladder Disease 1	Elevated hepatic transaminase, Cholangitis, Portal inflammation, Jaundice, Cholestasis, Elevated ...	OMIM:600803
Fetal Gaucher Disease	Hepatomegaly, Pancytopenia, Splenomegaly, Abnormality of the spleen, Stillbirth, Congenital nonbu...	ORPHA:85212
Immunodeficiency, Ovarian Dysgenesis, And Pulmonary Fibrosis	Abnormality of the tonsils, Decreased proportion of CD8-positive T cells, Decreased circulating t...	OMIM:611926
Thymoma	Myositis, Aplastic anemia, Glomerulonephritis, Pure red cell aplasia, Abnormal lymphocyte prolife...	ORPHA:99867
Coproporphyria, Hereditary	Splenomegaly, Hepatomegaly, Jaundice, Respiratory paralysis	OMIM:121300
Osteopetrosis, Autosomal Recessive 1	Hepatomegaly, Pancytopenia, Osteomyelitis, Thrombocytopenia, Splenomegaly, Elevated circulating a...	OMIM:259700
Amyloidosis, Familial Visceral	Splenomegaly, Hepatomegaly, Skin rash, Cholestasis	OMIM:105200
Microlissencephaly	Pneumonia	ORPHA:1083
Polyhydramnios, Megalencephaly, And Symptomatic Epilepsy	Astrocytosis	OMIM:611087
Brugada Syndrome 7	Atrial flutter, Paroxysmal atrial fibrillation, ST segment elevation, Permanent atrial fibrillati...	OMIM:613120
Muscular Dystrophy, Congenital, Davignon-Chauveau Type	Dry skin	OMIM:617066
Kyphoscoliotic Ehlers-Danlos Syndrome Due To Fkbp22 Deficiency	Bruising susceptibility, Follicular hyperkeratosis	ORPHA:300179
Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige	Recurrent respiratory infections, Failure to thrive, Psoriasiform dermatitis, Recurrent skin infe...	OMIM:615508
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts	Elevated hepatic transaminase, Increased circulating ferritin concentration, Reticulocytopenia, A...	ORPHA:300298
Inflammatory Skin And Bowel Disease, Neonatal, 1	Perianal erythema, Perioral erythema	OMIM:614328
Zygomycosis	Fasciitis, Sinusitis, Acute infectious pneumonia, Colitis, Cough, Neutropenia, Nephritis, Infecti...	ORPHA:73263
Hereditary Hemorrhagic Telangiectasia	Conjunctival telangiectasia, Gastrointestinal hemorrhage, Transient ischemic attack, Epistaxis, P...	ORPHA:774
Amoebiasis Due To Entamoeba Histolytica	Elevated hepatic transaminase, Liver abscess, Lung abscess, Dyspnea, Leukocytosis, Weight loss, A...	ORPHA:67
Neurodegeneration With Brain Iron Accumulation 1	Hyperactivity, Ataxia, Akinesia, Acanthocytosis, Phonic tics, Choreoathetosis, Gait disturbance, ...	OMIM:234200
Ichthyosis, Congenital, Autosomal Recessive 9	Orthokeratosis, Hyperkeratosis, Congenital nonbullous ichthyosiform erythroderma, Hypergranulosis	OMIM:615023
Cryofibrinogenemia, Familial Primary	Acrocyanosis	OMIM:123540
Chronic Granulomatous Disease	Hepatomegaly, Recurrent respiratory infections, Sinusitis, Liver abscess, Eczema, Abnormality of ...	ORPHA:379
Maternal Uniparental Disomy Of Chromosome 4	Abetalipoproteinemia, Elevated circulating creatine kinase concentration, Acanthocytosis, Abnorma...	ORPHA:96180
Transaldolase Deficiency	Hepatomegaly, Pancytopenia, Small for gestational age, Thrombocytopenia, Patent ductus arteriosus...	OMIM:606003
Diffuse Alveolar Hemorrhage	Respiratory failure requiring assisted ventilation, Dyspnea, Leukocytosis, Increased DLCO, Anemia...	ORPHA:90060
Keratoderma Hereditarium Mutilans	Hyperkeratosis, Self-injurious behavior, Honeycomb palmoplantar hyperkeratosis, Ichthyosis	ORPHA:494
Cleft Larynx, Posterior	Aspiration, Cyanosis	OMIM:215800
Fusariosis	Myositis, Sinusitis, Fasciitis, Abnormality of the spleen, Abnormality of the liver, Neutropenia,...	ORPHA:228119
Immunodeficiency 38 With Basal Ganglia Calcification	Lymphadenopathy	OMIM:616126
Acrokeratoelastoidosis Of Costa	Orthokeratosis, Hyperkeratotic papule, Hypergranulosis, Palmoplantar hyperkeratosis	ORPHA:38
Bone Marrow Failure Syndrome 3	Acute myeloid leukemia, Pancytopenia, Failure to thrive, Aplastic anemia, Eczema, Pancreatic stea...	OMIM:617052
Pulmonary Arteriovenous Malformation	Liver abscess, Transient ischemic attack, Epistaxis, Myocardial infarction, Dyspnea, Heart murmur...	ORPHA:2038
Multiple Pterygium Syndrome, Lethal Type	Akinesia	OMIM:253290
Immunodeficiency 110 With Lymphoproliferation	Autoimmune hemolytic anemia, Recurrent skin infections, Recurrent pneumonia, Recurrent upper resp...	OMIM:614868
Neurodevelopmental Disorder With Impaired Language And Ataxia And With Or Without Seizures	Cyanosis, Apnea, Ataxia, Impulsivity, Aggressive behavior, Inability to walk, Tongue thrusting, G...	OMIM:619580
Mitochondrial Complex Iv Deficiency, Nuclear Type 4	Hyperalaninemia, Hepatomegaly, Apnea, Elevated circulating aspartate aminotransferase concentrati...	OMIM:619048
Peripartum Cardiomyopathy	Tachycardia, Right ventricular failure, Cardiogenic shock, Congestive heart failure, Dilated card...	ORPHA:563
Fixed Subaortic Stenosis	Aortic regurgitation, Orthopnea, Paroxysmal atrial fibrillation, Angina pectoris, Dyspnea, Conges...	ORPHA:3092
Combined Malonic And Methylmalonic Acidemia	Dehydration	ORPHA:289504
Interstitial Lung And Liver Disease	Hepatomegaly, Failure to thrive, Elevated circulating aspartate aminotransferase concentration, D...	OMIM:615486
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency	Normocytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Normochromic anemia, Nonspherocytic h...	OMIM:235700
Postinfectious Vasculitis	Abnormal circulating protein concentration, Viral hepatitis, Inflammatory abnormality of the skin...	ORPHA:48435
Idiopathic Pulmonary Hemosiderosis	Hepatomegaly, Glomerulonephritis, Nodular pattern on pulmonary HRCT, Cardiomegaly, Crackles, Diff...	ORPHA:99931
Beta-Mercaptolactate Cysteine Disulfiduria	Dry skin	ORPHA:1035
Meige Disease	Predominantly lower limb lymphedema, Edema of the dorsum of hands, Facial edema, Lymphedema, Peri...	ORPHA:90186
Short Syndrome	Premature skin wrinkling, Thin skin, Prominent superficial veins	OMIM:269880
Alveolar Echinococcosis	Liver abscess, Pulmonary cyst, Cholangitis, Portal hypertension, Eosinophilia, Pancreatic cysts, ...	ORPHA:284
Congenital Disorder Of Glycosylation, Type Iu	Respiratory distress, Death in infancy, Neonatal respiratory distress, Hypokinesia	OMIM:615042
Gaisböck Syndrome	Hypertriglyceridemia, Overweight, Splenomegaly, Dyspnea, Increased mean corpuscular hemoglobin co...	ORPHA:90041
Dengue Fever	Hepatomegaly, Skin rash, Epistaxis, Pruritus, Cardiorespiratory arrest, Leukopenia, Ascites, Hypo...	ORPHA:99828
Immunodeficiency, Common Variable, 14	Psoriasiform dermatitis, Decreased proportion of class-switched memory B cells, Decreased circula...	OMIM:617765
Shwachman-Diamond Syndrome 1	Myocardial necrosis, Hepatomegaly, Elevated hepatic transaminase, Acute myeloid leukemia, Pancyto...	OMIM:260400
Kaposi Sarcoma	Generalized lymphadenopathy, Skin rash, Hypermelanotic macule, Abnormality of the spleen, Abnorma...	ORPHA:33276
Anemia, Congenital Dyserythropoietic, Type Ii	Reticulocytosis, Reduced level of N-acetylglucosaminyltransferase II, Anemia of inadequate produc...	OMIM:224100
Leopard Syndrome 3	Dry skin, Webbed neck	OMIM:613707
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1	Failure to thrive, Sinusitis, Pneumonia, Bronchiectasis, T lymphocytopenia, Increased circulating...	OMIM:242860
Intermediate Osteopetrosis	Osteomyelitis, Thrombocytopenia, Hepatosplenomegaly, Elevated circulating alkaline phosphatase co...	ORPHA:210110
Parenteral Nutrition-Associated Cholestasis	Elevated hepatic transaminase, Hepatomegaly, Small for gestational age, Portal hypertension, Bili...	ORPHA:567983
Primary Triglyceride Deposit Cardiomyovasculopathy	Hepatomegaly, Inflammatory abnormality of the skin, Abnormal circulating enzyme concentration or ...	ORPHA:565612
Immunodeficiency 61	Recurrent respiratory infections, Decreased circulating IgG4 level, Obesity, Agammaglobulinemia, ...	OMIM:300310
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)	Elevated hepatic transaminase, Hepatomegaly, Failure to thrive, Portal hypertension, Elevated cir...	OMIM:251880
Transcobalamin Ii Deficiency	Decreased circulating IgG level, Hepatomegaly, Macrocytic anemia, Pancytopenia, Erythroid hypopla...	OMIM:275350
Intellectual Developmental Disorder, Fra12A Type	Hyperkeratosis	OMIM:136630
Immunodeficiency 96	Eczema, Increased proportion of gamma-delta T cells, Decreased circulating total IgM, Defective T...	OMIM:619774
Transient Neonatal Diabetes Mellitus	Dehydration	ORPHA:99886
Keratosis Follicularis Spinulosa Decalvans, Autosomal Dominant	Palmoplantar keratoderma, Facial erythema	OMIM:612843
Generalized Pustular Psoriasis	Elevated hepatic transaminase, Hyponatremia, Elevated circulating C-reactive protein concentratio...	ORPHA:247353
Congenital Disorder Of Glycosylation, Type Ih	Hepatomegaly, Failure to thrive, Thrombocytopenia, Patent ductus arteriosus, Elevated circulating...	OMIM:608104
Cold Agglutinin Disease	Splenomegaly, Hepatomegaly, Hemolytic anemia, Lymphadenopathy	ORPHA:56425
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome	Dry skin	ORPHA:3085
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency	Elevated hepatic transaminase, Hepatomegaly, Abnormal circulating enzyme concentration or activit...	ORPHA:264580
Gaucher Disease, Type I	Hepatomegaly, Pancytopenia, Epistaxis, Hypersplenism, Splenomegaly, Dyspnea, Anemia, Hypertension...	OMIM:230800
White Sponge Nevus 2	Hyperparakeratosis, Edema	OMIM:615785
Relapsing Fever	Elevated hepatic transaminase, Neutrophilia, Epistaxis, Elevated circulating C-reactive protein c...	ORPHA:91547
Shigellosis	Hyponatremia, Failure to thrive in infancy, Pneumonia, Abscess, Myocarditis, Peritonitis, Leukocy...	ORPHA:810
Mucopolysaccharidosis Type 7	Recurrent respiratory infections, Abnormal pleura morphology, Splenomegaly, Hepatitis, Ascites	ORPHA:584
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy	Hepatomegaly, Pulmonary embolism, Decreased circulating antibody level, Intestinal lymphangiectas...	OMIM:226300
Very Long Chain Acyl-Coa Dehydrogenase Deficiency	Elevated hepatic transaminase, Hepatomegaly, Inflammatory abnormality of the skin, Respiratory di...	ORPHA:26793
Mercaptolactate-Cysteine Disulfiduria	Hypokinesia	OMIM:249650
Subacute Inflammatory Demyelinating Polyneuropathy	Increased circulating IgG level, Leukocytosis	ORPHA:206594
Diffuse Neonatal Hemangiomatosis	Hepatomegaly, Hypercalcemia, Patent ductus arteriosus, Anemia, Ascites, Thrombocytopenia	ORPHA:2123
Spinocerebellar Ataxia, Autosomal Recessive 21	Hepatomegaly, Splenomegaly, Hepatic fibrosis, Hepatic failure, Hepatic bridging fibrosis	OMIM:616719
Immunodeficiency 93 And Hypertrophic Cardiomyopathy	Bronchiectasis, Decreased proportion of class-switched memory B cells, Agammaglobulinemia, Decrea...	OMIM:619705
Ramon Syndrome	Hyperkeratosis, Telangiectasia of the skin	ORPHA:3019
Specific Granule Deficiency 2	Absent neutrophil specific granules, Thrombocytopenia, Recurrent pneumonia, Acanthosis nigricans,...	OMIM:617475
Subcutaneous Panniculitis-Like T-Cell Lymphoma	Weight loss, Panniculitis, Hemophagocytosis, Hepatosplenomegaly	ORPHA:86884
Ameloonychohypohidrotic Syndrome	Dry skin	OMIM:104570
Hereditary Motor And Sensory Neuropathy, Okinawa Type	Respiratory failure requiring assisted ventilation, Elevated circulating creatine kinase concentr...	ORPHA:90117
Cardiomyopathy, Familial Hypertrophic, 4	Transient ischemic attack, Cardiac arrest, Sudden cardiac death, First degree atrioventricular bl...	OMIM:115197
Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency	Impaired neutrophil bactericidal activity, Pigment gallstones, Spontaneous hemolytic crises, Sple...	OMIM:613470
Combined Oxidative Phosphorylation Deficiency 53	Hepatomegaly, Osteomyelitis, Elevated circulating C-reactive protein concentration, Hypochromic m...	OMIM:619423
Sepsis In Premature Infants	Hepatomegaly, Increased circulating interleukin 6 concentration, Small for gestational age, Abnor...	ORPHA:90051
Trichohepatoenteric Syndrome 1	Aortic regurgitation, Increased mean platelet volume, Splenomegaly, Increased serum iron, Hypoalb...	OMIM:222470
Atrial Fibrillation, Familial, 7	Paroxysmal atrial fibrillation, Permanent atrial fibrillation, Prolonged QTc interval, Sinus brad...	OMIM:612240
Immunoglobulin A Vasculitis	Anorexia, Edema, Angioedema, Erythema, Skin ulcer, Urticaria, Bruising susceptibility, Vascular s...	ORPHA:761
Acute Monoblastic/Monocytic Leukemia	Acute monocytic leukemia, Leukocytosis, Cervical lymphadenopathy, Weight loss, Lymphocytosis, Hyp...	ORPHA:514
Proliferative Vasculopathy And Hydranencephaly-Hydrocephaly Syndrome	Akinesia	OMIM:225790
Ciliary Dyskinesia, Primary, 25	Recurrent respiratory infections, Neonatal respiratory distress, Chronic bronchitis, Productive c...	OMIM:615482
Neonatal Severe Primary Hyperparathyroidism	Splenomegaly, Hepatomegaly	ORPHA:417
Mednik Syndrome	Decreased circulating ceruloplasmin concentration, Decreased circulating copper concentration, In...	ORPHA:171851
Combined Oxidative Phosphorylation Deficiency 2	Neonatal death, Hypokinesia	OMIM:610498
Respiratory Infections, Recurrent, And Failure To Thrive With Or Without Diarrhea	Hepatomegaly, Crackles, Atelectasis, Leukocytosis, Dyspnea, Asthma, Bronchiectasis, Cholestasis, ...	OMIM:620233
Congenital Disorder Of Glycosylation, Type If	Death in infancy, Dry skin, Scaling skin	OMIM:609180
Isolated Biliary Atresia	Elevated hepatic transaminase, Hepatomegaly, Small for gestational age, Atretic gallbladder, Conj...	ORPHA:30391
Retinal Telangiectasia And Hypogammaglobulinemia	Reduced delayed hypersensitivity, Decreased circulating IgG level	OMIM:267900
Neonatal Ichthyosis-Sclerosing Cholangitis Syndrome	Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Cholestasis, Ichthyosis, Acanthosis ni...	ORPHA:59303
Tick-Borne Encephalitis	Elevated hepatic transaminase, Elevated circulating C-reactive protein concentration, Thrombocyto...	ORPHA:297
Hyperimmunoglobulinemia D With Periodic Fever	Urticaria, Erythema, Acrocyanosis, Purpura	ORPHA:343
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency	Elevated hepatic transaminase, Hepatomegaly, Failure to thrive, Hyperlipidemia, Portal fibrosis, ...	ORPHA:369
Cardiomyopathy, Dilated, 1A	Atrial flutter, Atrial fibrillation, First degree atrioventricular block, Sudden cardiac death, C...	OMIM:115200
Combined Immunodeficiency-Enteropathy Spectrum	Autoimmune hemolytic anemia, Psoriasiform dermatitis, Thickened skin, Hepatitis, Hypoplasia of th...	ORPHA:436252
Chylomicron Retention Disease	Failure to thrive, Decreased LDL cholesterol concentration, Steatorrhea, Hypoalbuminemia, Hypocho...	OMIM:246700
Congenital Isolated Acth Deficiency	Hyponatremia, Decreased circulating cortisol level, Hyperkalemia, Hepatitis, Prolonged neonatal j...	ORPHA:199296
Chronic Beryllium Disease	Lymphocytic interstitial pneumonia, Dyspnea, Hypersensitivity pneumonitis, Abnormality on pulmona...	ORPHA:133
Alpha-N-Acetylgalactosaminidase Deficiency Type 1	Hyperkeratosis, Telangiectasia, Telangiectasia of the skin, Lymphedema	ORPHA:79279
Aapoaiv Amyloidosis	Atrial flutter, Abnormal cardiac ventricular function, Atrial fibrillation, Cardiac conduction ab...	ORPHA:439232
Xeroderma Pigmentosum, Complementation Group F	Erythema, Cutaneous photosensitivity	OMIM:278760
Proteasome-Associated Autoinflammatory Syndrome 4	Hepatomegaly, Myositis, Autoimmune hemolytic anemia, Splenomegaly, Lymphadenopathy, Panniculitis	OMIM:619183
Sclerosing Cholangitis, Neonatal	Hepatomegaly, Portal hypertension, Hepatic bridging fibrosis, Pruritus, Splenomegaly, Jaundice, B...	OMIM:617394
Immunodeficiency, Developmental Delay, And Hypohomocysteinemia	Recurrent skin infections, Decreased circulating IgA level, Decreased circulating antibody level,...	OMIM:617744
Hemolytic Disease Of Fetus And Newborn, Rh-Induced	Splenomegaly, Hepatomegaly, Fetal ascites	OMIM:619462
Caroli Syndrome	Liver abscess, Cholangitis, Conjugated hyperbilirubinemia, Abnormal intrahepatic bile duct morpho...	ORPHA:480520
Tropical Endomyocardial Fibrosis	Prolonged QRS complex, Restrictive cardiomyopathy, Atrioventricular block, Left bundle branch blo...	ORPHA:75565
Reynolds Syndrome	Elevated hepatic transaminase, Hepatomegaly, Calcinosis, Pruritus, Erythema nodosum, Jaundice, Sp...	OMIM:613471
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency	Methylmalonic acidemia, Hepatomegaly, Respiratory distress, Hyperammonemia, Tubulointerstitial ne...	OMIM:251000
Takenouchi-Kosaki Syndrome	Thrombocytopenia, Pulmonic stenosis, Increased mean platelet volume	OMIM:616737
Chronic Nonbacterial Osteomyelitis/Chronic Recurrent Multifocal Osteomyelitis	Psoriasiform dermatitis, Acne, Osteomyelitis, Elevated circulating C-reactive protein concentrati...	ORPHA:324964
Kawasaki Disease	Pericarditis, Skin rash, Myocarditis, Jaundice, Leukocytosis, Recurrent pharyngitis, Hepatitis, C...	ORPHA:2331
Pili Torti-Onychodysplasia Syndrome	Ectodermal dysplasia, Dry skin	ORPHA:2890
Stuve-Wiedemann Syndrome 2	Respiratory distress, Eczema, Stillbirth, Neonatal death, Pulmonary arterial hypertension, Thromb...	OMIM:619751
Erythrocytosis, Familial, 8	Splenomegaly, Increased hematocrit, Polycythemia, Increased hemoglobin	OMIM:222800
Stormorken Syndrome	Howell-Jolly bodies, Elevated circulating creatine kinase concentration, Epistaxis, Asplenia, Thr...	OMIM:185070
Surfactant Metabolism Dysfunction, Pulmonary, 3	Respiratory distress, Death in infancy, Neonatal respiratory distress, Cyanosis, Apnea, Nonspecif...	OMIM:610921
Congenital Hypothyroidism Due To Transplacental Passage Of Tsh-Binding Inhibitory Antibodies	Dry skin, Prolonged neonatal jaundice	ORPHA:95715
Niemann-Pick Disease, Type C1	Hepatomegaly, Fatal liver failure in infancy, Bone-marrow foam cells, Fetal ascites, Low choleste...	OMIM:257220
Bronchial Neuroendocrine Tumor	Hepatomegaly, Pneumonia, Chronic noninfectious lymphadenopathy, Nonproductive cough, Dyspnea, Ast...	ORPHA:97287
Acute Myelomonocytic Leukemia	Eosinophilia, Dyspnea, Leukocytosis, Weight loss, Anemia, Thrombocytopenia	ORPHA:517
Ddost-Cdg	Dry skin	ORPHA:300536
Farber Disease	Elevated hepatic transaminase, Abnormal circulating enzyme concentration or activity, Failure to ...	ORPHA:333
Hydrops, Lactic Acidosis, And Sideroblastic Anemia	Sideroblastic anemia, Extramedullary hematopoiesis, Small for gestational age, Thrombocytopenia, ...	OMIM:617021
Immunodeficiency, Common Variable, 4	Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc...	OMIM:613494
Combined Cellular And Humoral Immune Defects With Granulomas	T lymphocytopenia, Decreased circulating IgG level, B lymphocytopenia, Recurrent respiratory infe...	OMIM:233650
Poikiloderma, Hereditary Fibrosing, With Tendon Contractures, Myopathy, And Pulmonary Fibrosis	Hepatomegaly, Elevated circulating creatine kinase concentration, Restrictive ventilatory defect,...	OMIM:615704
Immunodeficiency 81	Decreased proportion of CD4-positive T cells, Recurrent cutaneous abscess formation, Autoimmune h...	OMIM:619374
Congenital Muscular Dystrophy-Respiratory Failure-Skin Abnormalities-Joint Hyperlaxity Syndrome	Dry skin	ORPHA:486815
Epidermolysis Bullosa, Lethal Acantholytic	Neonatal death, Acantholysis	OMIM:609638
Ectodermal Dysplasia 15, Hypohidrotic/Hair Type	Dry skin	OMIM:618535
Familial Dilated Cardiomyopathy With Conduction Defect Due To Lmna Mutation	Sinoatrial block, Atrial flutter, Atrial fibrillation, Sudden cardiac death, Cardiac conduction a...	ORPHA:300751
Mednik Syndrome	Neonatal death, Death in infancy, Erythema, Death in childhood	OMIM:609313
Fish-Eye Disease	Splenomegaly, Hepatomegaly, Decreased HDL cholesterol concentration, Lymphadenopathy	ORPHA:79292
Hemochromatosis, Type 1	Elevated hepatic transaminase, Hepatomegaly, Cardiomegaly, Increased circulating ferritin concent...	OMIM:235200
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Recessive	Elevated hepatic transaminase, Decreased circulating ceruloplasmin concentration, Decreased circu...	OMIM:242150
Acute Lung Injury	Respiratory distress, Acute pancreatitis, Increased circulating interleukin 6 concentration, Pneu...	ORPHA:178320
Congenital Disorder Of Glycosylation, Type Ie	Elevated hepatic transaminase, Hepatomegaly, Respiratory distress, Elevated circulating creatine ...	OMIM:608799
Rhizomelic Chondrodysplasia Punctata	Dry skin	ORPHA:177
Immunodeficiency 13	Lymphopenia, Recurrent pneumonia, Decreased proportion of CD4-positive helper T cells, Bronchiect...	OMIM:615518
Benign Familial Infantile Epilepsy	Cyanosis, Apnea	ORPHA:306
Rothmund-Thomson Syndrome, Type 1	Recurrent otitis media, Hyperkeratosis, Cafe-au-lait spot	OMIM:618625
Acetophenetidin Sensitivity	Hemolytic anemia, Methemoglobinemia	OMIM:200300
Moynahan Syndrome	Hyperkeratosis	ORPHA:2574
Beta-Ketothiolase Deficiency	Anorexia, Edema, Dehydration, Agitation, Pallor, Oral aversion	ORPHA:134
Trichothiodystrophy 6, Nonphotosensitive	Dry skin	OMIM:616943
Immunodeficiency 86	Impaired oxidative burst, Decreased circulating IgG level, Increased circulating IgM level	OMIM:619549
Parkinson Disease 23, Autosomal Recessive Early-Onset	Akinesia	OMIM:616840
Acute Promyelocytic Leukemia	Pancytopenia, Epistaxis, Diffuse alveolar hemorrhage, Productive cough, Thrombocytopenia, Leukocy...	ORPHA:520
Mccune-Albright Syndrome	Pancytopenia, Hepatocellular adenoma, Hepatitis, Cholestasis, Large cafe-au-lait macules with irr...	ORPHA:562
Bone Marrow Failure Syndrome 6	Persistence of hemoglobin F, Increased mean corpuscular volume, Bone marrow hypocellularity, Recu...	OMIM:618849
Laryngeal Neuroendocrine Tumor	Elevated carcinoembryonic antigen level, Exertional dyspnea, Chronic noninfectious lymphadenopath...	ORPHA:100083
Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome	Elevated hepatic transaminase, Hepatomegaly, Failure to thrive, Tachypnea, Hepatitis, Hyperammone...	ORPHA:415
Eosinophilia, Familial	Recurrent bronchitis, Eosinophilia, Thrombocytopenia, Leukocytosis, Anemia	OMIM:131400
Naxos Disease	Subungual hyperkeratosis, Acantholysis, Diffuse palmoplantar hyperkeratosis, Hyperkeratosis, Palm...	OMIM:601214
Whipple Disease	Hyponatremia, Hepatomegaly, Myositis, Pericarditis, Generalized hyperpigmentation, Cachexia, Myoc...	ORPHA:3452
Autoinflammatory Syndrome, Familial, Behcet-Like 1	Anterior uveitis, Hemolytic anemia, Skin rash, Colitis, Lymphopenia, Thrombocytopenia	OMIM:616744
Lipoyltransferase 1 Deficiency	Elevated hepatic transaminase, Pulmonary arterial hypertension, Bradycardia, Decreased liver func...	OMIM:616299
Macroglobulinemia, Waldenstrom, Susceptibility To, 1	Impaired lymphocyte transformation with phytohemagglutinin, Monoclonal immunoglobulin M proteinem...	OMIM:153600
Lymphoma, Hodgkin, Classic	Impaired lymphocyte transformation with phytohemagglutinin, Polyclonal elevation of IgM	OMIM:236000
Insulin Autoimmune Syndrome	Acanthosis nigricans, Arthralgia/arthritis, Increased circulating antibody level, Weight loss	ORPHA:411593
Combined Oxidative Phosphorylation Deficiency 9	Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Dyspnea, Elevated ci...	OMIM:614582
Mitochondrial Myopathy, Infantile, Transient	Increased serum pyruvate, Hepatomegaly, Elevated circulating creatine kinase concentration, Respi...	OMIM:500009
Immunodeficiency 87 And Autoimmunity	Atrophic gastritis, Elevated circulating C-reactive protein concentration, Abnormal lymphocyte pr...	OMIM:619573
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia	Elevated circulating C-reactive protein concentration, Vasculitis, Decreased mean platelet volume...	OMIM:617718
Jung Syndrome	Dry skin	ORPHA:2321
Atrial Septal Defect, Ostium Secundum Type	Bundle branch block, Atrial flutter, Tricuspid regurgitation, Left-to-right shunt, Atrial fibrill...	ORPHA:99103
Aicardi-Goutieres Syndrome 1	Erythema, Prolonged neonatal jaundice, Acrocyanosis, Self-mutilation, Petechiae, Purpura	OMIM:225750
Olmsted Syndrome 1	Subungual hyperkeratosis, Parakeratosis, Hyperparakeratosis, Periorificial hyperkeratosis, Palmop...	OMIM:614594
Intellectual Developmental Disorder, Autosomal Recessive 41	Splenomegaly, Hepatomegaly, Recurrent pneumonia	OMIM:615637
Lymphoid Interstitial Pneumonia	Crackles, Cough, Decreased DLCO, Hepatomegaly, Multiple pulmonary cysts, Respiratory tract infect...	ORPHA:79128
Combined Immunodeficiency Due To Partial Rag1 Deficiency	Autoimmune hemolytic anemia, Splenomegaly, Neutropenia in presence of anti-neutropil antibodies, ...	ORPHA:231154
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency	Reticulocytosis, Anisocytosis, Splenomegaly, Jaundice, Leukocytosis, Unconjugated hyperbilirubine...	OMIM:300908
Igg4-Related Submandibular Gland Disease	Eosinophilia, Cholangitis, Increased circulating IgG4 level, Retroperitoneal fibrosis, Increased ...	ORPHA:449432
Subacute Cutaneous Lupus Erythematosus	Hyperkeratosis, Cutaneous photosensitivity, Psoriasiform lesion, Vasculitis in the skin	ORPHA:163525
Osteopetrosis, Autosomal Recessive 7	Hepatomegaly, Splenomegaly, Recurrent pneumonia, Decreased circulating total IgM, Hypocalcemic se...	OMIM:612301
Chiari Malformation Type Ii	Cyanosis, Ataxia, Inspiratory stridor, Dysphagia	OMIM:207950
American Trypanosomiasis	Hepatomegaly, Skin rash, Myocarditis, Splenomegaly, Dyspnea, Lymphadenopathy, Cough, Infectious e...	ORPHA:3386
Pulmonary Capillary Hemangiomatosis	Right ventricular failure, Diffuse alveolar hemorrhage, Mediastinal lymphadenopathy, Dyspnea, Hem...	ORPHA:199241
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations	Normocytic anemia, Skin rash, Pneumonia, Nodular regenerative hyperplasia of liver, Elevated circ...	ORPHA:247691
Noonan Syndrome 8	Eczema, Large for gestational age, Patent ductus arteriosus, Hyperkeratosis, Left ventricular hyp...	OMIM:615355
Letterer-Siwe Disease	Seborrheic dermatitis, Thrombocytopenia, Jaundice, Dyspnea, Hepatosplenomegaly, Neutropenia, Stom...	OMIM:246400
Severe Hereditary Thrombophilia Due To Congenital Protein S Deficiency	Subcutaneous hemorrhage, Thin skin, Skin ulcer, Purpura	ORPHA:743
Carnitine Palmitoyltransferase Ii Deficiency, Infantile	Elevated hepatic transaminase, Hepatomegaly, Respiratory arrest, Dilated cardiomyopathy, Ventricu...	OMIM:600649
Gamma-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R5	Abnormal macrophage morphology, Elevated circulating creatine kinase concentration, Right ventric...	ORPHA:353
Cholestasis, Progressive Familial Intrahepatic, 9	Hepatomegaly, Malformation of the hepatic ductal plate, Portal hypertension, Pruritus, Intrahepat...	OMIM:619849
Immunodeficiency 58	Colitis, Chronic otitis media, Recurrent cutaneous abscess formation, Chronic pulmonary obstructi...	OMIM:618131
Hypertrophic Osteoarthropathy, Primary, Autosomal Recessive, 1	Erythema, Redundant skin, Palmoplantar hyperkeratosis, Flushing	OMIM:259100
Acquired Methemoglobinemia	Respiratory distress, Cyanosis, Dyspnea, Hypoxemia, Methemoglobinemia	ORPHA:464453
Cholestasis, Progressive Familial Intrahepatic, 6	Elevated hepatic transaminase, Intrahepatic cholestasis, Periportal fibrosis, Elevated circulatin...	OMIM:619484
Generalized Pseudohypoaldosteronism Type 1	Hyponatremia, Osteomyelitis, Failure to thrive in infancy, Glucocortocoid-insensitive primary hyp...	ORPHA:171876
Lipodystrophy-Intellectual Disability-Deafness Syndrome	Progeroid facial appearance	ORPHA:50811
Inherited Creutzfeldt-Jakob Disease	Astrocytosis	ORPHA:282166
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency	Elevated hepatic transaminase, Hepatomegaly, Failure to thrive, Respiratory distress, Portal hype...	ORPHA:367
Primary Familial Polycythemia	Epistaxis, Abnormal hemoglobin, Pruritus, Dyspnea, Cough, Polycythemia, Exertional dyspnea	ORPHA:90042
Congenital Disorder Of Glycosylation, Type Iig	Thrombocytopenia, Giant platelets, Anemia	OMIM:611209
Formiminoglutamic Aciduria	Anemia, Abnormal circulating enzyme concentration or activity, Abnormal circulating histidine con...	ORPHA:51208
Aicardi-Goutieres Syndrome 9	Elevated hepatic transaminase, Hepatomegaly, Acute pancreatitis, Pericarditis, Hemolytic anemia, ...	OMIM:619487
Vexas Syndrome	Inflammatory abnormality of the skin, Macrocytic anemia, Neutrophilic infiltration of the skin, C...	OMIM:301054
Hermansky-Pudlak Syndrome 2	Aberrant melanosome maturation, Albinism, Periodontitis, Neutropenia, Hepatomegaly, Decreased CD4...	OMIM:608233
Glycogen Storage Disease Ixb	Splenomegaly, Hepatomegaly, Increased hepatic glycogen content, Hyperuricemia	OMIM:261750
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency	Elevated hepatic transaminase, Hepatomegaly, Abnormal circulating enzyme concentration or activit...	ORPHA:79240
Intrahepatic Cholestasis Of Pregnancy	Elevated hepatic transaminase, Neonatal respiratory distress, Skin rash, Small for gestational ag...	ORPHA:69665
Pityriasis Rubra Pilaris	Subungual hyperkeratosis, Eczema, Pruritus, Pustule, Thickened skin, Ichthyosis, Palmoplantar ker...	ORPHA:2897
Immunodeficiency 12	Skin rash, Abnormal lymphocyte count, Decreased lymphocyte proliferation in response to anti-CD3,...	OMIM:615468
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia	Atrophic gastritis, Chronic active hepatitis, Asplenia, Iridocyclitis, Chronic mucocutaneous cand...	OMIM:240300
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2	Accessory spleen, Hepatomegaly, Multiple pulmonary cysts, Hypertriglyceridemia, Failure to thrive...	OMIM:619418
Pulmonary Hypertension, Primary, 1	Elevated right atrial pressure, Right ventricular failure, Increased pulmonary vascular resistanc...	OMIM:178600
Cardiomyopathy, Dilated, 1Nn	Increased left ventricular end-diastolic volume, Congestive heart failure, Abnormal ST segment, D...	OMIM:615916
Mitochondrial Complex Iv Deficiency, Nuclear Type 20	Elevated hepatic transaminase, Hepatomegaly, Pulmonary arterial hypertension	OMIM:619064
Congenital Enterocyte Heparan Sulfate Deficiency	Edema, Dehydration	ORPHA:103910
Pontocerebellar Hypoplasia, Hypotonia, And Respiratory Insufficiency Syndrome, Neonatal Lethal	Neonatal death, Hepatomegaly, Hypocholesterolemia	OMIM:618810
Hurler-Scheie Syndrome	Splenomegaly, Hepatomegaly, Rhinitis, Abnormality of the tonsils	ORPHA:93476
Lathosterolosis	Increased mean platelet volume, Acanthocytosis, Schistocytosis, Anisopoikilocytosis, Hepatospleno...	OMIM:607330
Delta-Beta-Thalassemia	Abnormal hemoglobin, Anemia, Microcytic anemia	ORPHA:231237
Ichthyotic Keratoderma, Spasticity, Hypomyelination, And Dysmorphic Facial Features	Parakeratosis, Hyperkeratosis, Ichthyosis, Acanthosis nigricans, Dry skin	OMIM:618527
Noonan Syndrome 5	Dry skin, Webbed neck	OMIM:611553
Enteric Anendocrinosis	Dehydration	ORPHA:83620
Kcnq2-Related Epileptic Encephalopathy	Pallor, Cerebral edema, Facial erythema	ORPHA:439218
Dysplastic Cortical Hyperostosis, Kozlowski-Tsuruta Type	Splenomegaly, Hepatomegaly, Aplasia/Hypoplasia of the lungs	ORPHA:2204
Facioscapulohumeral Muscular Dystrophy 3, Digenic	Aspiration pneumonia	OMIM:619477
Methylmalonic Aciduria, Cblb Type	Methylmalonic acidemia, Hepatomegaly, Pancytopenia, Respiratory distress, Thrombocytopenia, Hyper...	OMIM:251110
Potocki-Lupski Syndrome	Failure to thrive, Small for gestational age, Hypocholesterolemia	OMIM:610883
Autoinflammation, Immune Dysregulation, And Eosinophilia	Eosinophilic liver infiltration, Eosinophilia, Asthma, Atopic dermatitis, Hepatosplenomegaly, Mem...	OMIM:618999
Neutropenia, Severe Congenital, 4, Autosomal Recessive	Leukopenia, Hypoplasia of the thymus, Otitis media, Neutropenia, Hepatomegaly, Perianal abscess, ...	OMIM:612541
Glycogen Storage Disease Iii	Elevated hepatic transaminase, Hepatomegaly, Elevated circulating creatine kinase concentration, ...	OMIM:232400
Bloom Syndrome	Decreased circulating IgG level, Hypopigmentation of the skin, Small for gestational age, Elevate...	OMIM:210900
Infant Acute Respiratory Distress Syndrome	Cyanosis, Pneumonia, Nasal flaring, Tachypnea, Hypoxemia, Respiratory failure	ORPHA:70587
Cholestasis, Benign Recurrent Intrahepatic, 1	Hepatomegaly, Intrahepatic cholestasis with episodic jaundice, Conjugated hyperbilirubinemia, Pru...	OMIM:243300
Budd-Chiari Syndrome	Elevated hepatic transaminase, Hepatomegaly, Acute hepatic failure, Portal hypertension, Splenome...	ORPHA:131
Bleeding Disorder, Platelet-Type, 17	Gastrointestinal hemorrhage, Increased RBC distribution width, Epistaxis, Macrothrombocytopenia, ...	OMIM:187900
Ciliary Dyskinesia, Primary, 14	Recurrent respiratory infections, Neonatal respiratory distress, Chronic bronchitis, Cough, Wheez...	OMIM:613807
Cancer, Alopecia, Pigment Dyscrasia, Onychodystrophy, And Keratoderma	Conjunctival telangiectasia, Dry skin, Scaling skin	OMIM:618373
Poems Syndrome	Respiratory insufficiency due to muscle weakness, Thickened skin, Abnormality of skin physiology,...	ORPHA:2905
Sarcoidosis	Increased T cell count, Abnormal lung morphology, Uveitis, Tubulointerstitial nephritis, Leukopen...	ORPHA:797
Ataxia-Telangiectasia	Decreased circulating IgG level, Failure to thrive, Sinusitis, Elevated circulating alpha-fetopro...	OMIM:208900
Juvenile Arthritis	Thrombocytosis, Leukocytosis, Skin rash	OMIM:618795
Glycosylphosphatidylinositol Biosynthesis Defect 1	Portal vein thrombosis, Hepatomegaly, Portal hypertension, Splenomegaly	OMIM:610293
Wolcott-Rallison Syndrome	Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Hyponatremia, Decreased body ...	ORPHA:1667
Ciliary Dyskinesia, Primary, 9	Neonatal respiratory distress, Pneumonia, Cough, Bronchiectasis, Decreased nasal nitric oxide, Re...	OMIM:612444
Papa Syndrome	Increased inflammatory response, Myositis, Acne, Pustule, Lymphadenopathy, Arthritis, Increased c...	ORPHA:69126
Tumor Necrosis Factor Receptor 1 Associated Periodic Syndrome	Fasciitis, Myositis, Pericarditis, Skin rash, Elevated circulating C-reactive protein concentrati...	ORPHA:32960
Chromomycosis	Predominantly lower limb lymphedema, Edema, Lymphedema, Hyperparakeratosis, Hyperkeratosis, Hyper...	ORPHA:182
Hypotrichosis Simplex Of The Scalp	Parakeratosis, Allergic rhinitis, Pruritus, Increased circulating IgE level, Atopic dermatitis, H...	ORPHA:90368
Kimura Disease	Lymphadenopathy, Increased circulating IgE level, Eosinophilia, Follicular hyperplasia	ORPHA:482
Neutrophilic Dermatosis, Acute Febrile	Erythema, Pyoderma gangrenosum	OMIM:608068
Ichthyosis, Congenital, Autosomal Recessive 1	Parakeratosis, Palmoplantar hyperkeratosis, Congenital ichthyosiform erythroderma, Congenital non...	OMIM:242300
Rh Deficiency Syndrome	Hemolytic anemia, Reticulocytosis, Macrocytic anemia, Anisocytosis, Jaundice, Spherocytosis, Tach...	ORPHA:71275
Surfactant Metabolism Dysfunction, Pulmonary, 2	Respiratory distress, Cyanosis, Spontaneous pneumothorax, Nonspecific interstitial pneumonia, Red...	OMIM:610913
Ectodermal Dysplasia-Sensorineural Deafness Syndrome	Hyperkeratosis, Hidrotic ectodermal dysplasia	ORPHA:1883
Primary Pulmonary Hypoplasia	Neonatal respiratory distress, Cyanosis, Apnea, Asthma, Tachypnea, Pneumothorax, Hypoxemia, Restr...	ORPHA:2257
Acute Erythroid Leukemia	Pancytopenia, Erythroid hypoplasia, Leukopenia, Bone marrow hypocellularity, Anemia	ORPHA:318
Acrodermatitis Enteropathica	Anorexia, Erythema, Skin ulcer, Dry skin, Generalized abnormality of skin	ORPHA:37
Idiopathic Bronchiectasis	Cachexia, Crackles, Respiratory tract infection, Dyspnea, Wheezing, Productive cough, Emphysema, ...	ORPHA:60033
Cirrhotic Cardiomyopathy	Prolonged QT interval, Hepatomegaly, Elevated jugular venous pressure, Left ventricular diastolic...	ORPHA:57777
Zika Virus Disease	Maculopapular exanthema, Skin rash, Pruritus, Thrombocytopenia, Retinal pigment epithelial mottli...	ORPHA:448237
Microcephalic Primordial Dwarfism, Toriello Type	Recurrent respiratory infections, Decreased circulating IgG level, Decreased circulating total Ig...	ORPHA:2643
Myopathy With Extrapyramidal Signs	Elevated hepatic transaminase, Hepatomegaly, Extremely elevated creatine kinase, Elevated circula...	OMIM:615673
Postsynaptic Congenital Myasthenic Syndromes	Orthopnea, Reduced vital capacity, Cyanosis, Restrictive ventilatory defect, Respiratory failure,...	ORPHA:98913
Glycogen Storage Disease Ixc	Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Bile duct prolif...	OMIM:613027
Atrial Septal Defect, Ostium Primum Type	Atrial flutter, Tricuspid regurgitation, Abnormally loud pulmonic component of the second heart s...	ORPHA:99106
Coronary Arterial Fistula	Abnormal EKG, Elevated jugular venous pressure, Continuous heart murmur, Orthopnea, Tachycardia, ...	ORPHA:2041
Free Sialic Acid Storage Disease	Hepatomegaly, Recurrent respiratory infections, Failure to thrive in infancy, Splenomegaly, Abnor...	ORPHA:834
Subcorneal Pustular Dermatosis	Erythema	ORPHA:48377
Mitochondrial Myopathy With Reversible Cytochrome C Oxidase Deficiency	Respiratory distress, Hepatomegaly, Respiratory failure requiring assisted ventilation, Abnormali...	ORPHA:254864
Rheumatic Fever	Erythema, Pallor, Anorexia	ORPHA:3099
Atrial Septal Defect 9	Pulmonary arterial hypertension	OMIM:614475
Erythrokeratodermia Variabilis Et Progressiva 6	Parakeratosis	OMIM:618531
Hsd10 Disease, Infantile Type	Restlessness, Cyanosis, Choreoathetosis, Dysphagia, Loss of ambulation, Paroxysmal bursts of laug...	ORPHA:391428
Igg4-Related Ophthalmic Disease	Sinusitis, Cholangitis, Elevated circulating C-reactive protein concentration, Eosinophilia, Kera...	ORPHA:449563
Klippel-Trénaunay Syndrome	Gastrointestinal hemorrhage, Hepatomegaly, Pulmonary embolism, Microcytic anemia, Congestive hear...	ORPHA:90308
Al Amyloidosis	Hepatomegaly, Increased circulating NT-proBNP concentration, Howell-Jolly bodies, Nonproductive c...	ORPHA:85443
Scrub Typhus	Anterior uveitis, Skin rash, Myocarditis, Splenomegaly, Dyspnea, Lymphadenopathy, Restrictive ven...	ORPHA:83317
Adiposis Dolorosa	Dry skin, Telangiectasia of the skin, Bruising susceptibility	ORPHA:36397
Sweet Syndrome	Acute myeloid leukemia, Predominantly dermal neutrophilic infiltrate, Myositis, Neutrophilia, Acn...	ORPHA:3243
Lysosomal Acid Lipase Deficiency	Bone-marrow foam cells, Microvesicular hepatic steatosis, Vacuolated lymphocytes, Hepatic fibrosi...	ORPHA:275761
Sarcoidosis, Susceptibility To, 1	Generalized lymphadenopathy, Uveitis, Inflammation of the large intestine, Cough, Emphysema, Hepa...	OMIM:181000
Bloom Syndrome	Bronchitis, Uveitis, Otitis media, Decreased circulating IgG level, Hypopigmentation of the skin,...	ORPHA:125
Cerebrooculofacioskeletal Syndrome 1	Dehydration	OMIM:214150
Familial Cold Autoinflammatory Syndrome 1	Skin rash, Elevated circulating C-reactive protein concentration, Leukocytosis, Uveitis, Arthriti...	OMIM:120100
Hypermanganesemia With Dystonia 1	Elevated hepatic transaminase, Hepatomegaly, Hypermanganesemia, Increased total iron binding capa...	OMIM:613280
Cog5-Cdg	Premature skin wrinkling, Oligohydramnios	ORPHA:263487
Ectodermal Dysplasia 11A, Hypohidrotic/Hair/Tooth Type, Autosomal Dominant	Dry skin, Hypohidrotic ectodermal dysplasia	OMIM:614940
Mitochondrial Complex I Deficiency, Nuclear Type 33	Small for gestational age, Apnea, Bronchiectasis, Hyperammonemia, Respiratory insufficiency, Aspi...	OMIM:618253
Porphyria Cutanea Tarda, Type I	Hepatic fibrosis, Eczema, Hyperpigmentation of the skin	OMIM:176090
Cirrhosis, Familial	Jaundice, Micronodular cirrhosis, Fulminant hepatitis, Biliary cirrhosis, Hypertension, Cirrhosis...	OMIM:215600
Hughes-Stovin Syndrome	Pulmonary embolism, Dyspnea, Vasculitis, Cardiorespiratory arrest, Cough, Pulmonary arterial hype...	ORPHA:228116
Focal Facial Dermal Dysplasia 3, Setleis Type	Aged leonine appearance	OMIM:227260
Gm1-Gangliosidosis, Type Ii	Hepatomegaly, Splenomegaly, Patent ductus arteriosus, Decreased beta-galactosidase activity, Sea-...	OMIM:230600
Gcgr-Related Hyperglucagonemia	Necrolytic migratory erythema	ORPHA:438274
Presynaptic Congenital Myasthenic Syndromes	Waddling gait, Cyanosis, Sudden episodic apnea, Ataxia, Intermittent episodes of respiratory insu...	ORPHA:98914
Congenital Myasthenic Syndrome	Waddling gait, Cyanosis, Sudden episodic apnea, Ataxia, Intermittent episodes of respiratory insu...	ORPHA:590
Gaucher Disease, Type Ii	Hepatomegaly, Apnea, Splenomegaly, Anemia, Stridor, Cough, Bronchiolitis, Failure to thrive, Recu...	OMIM:230900
Lead Poisoning	Decreased HDL cholesterol concentration, Skin rash, Small for gestational age, Asthma, Increased ...	ORPHA:330015
Supranuclear Palsy, Progressive, 2	Falls, Gait imbalance, Akinesia, Dysphagia	OMIM:609454
Attrv122I Amyloidosis	Abnormal EKG, Increased circulating NT-proBNP concentration, Angina pectoris, Abnormal atrioventr...	ORPHA:85451
Immunodeficiency 59 And Hypoglycemia	Hepatomegaly, Complete or near-complete absence of specific antibody response to unconjugated pne...	OMIM:233600
Rigid Spine Syndrome	Abnormality on pulmonary function testing, Pneumonia, Respiratory insufficiency	ORPHA:97244
Liver Failure, Infantile, Transient	Acute hepatic failure, Elevated hepatic transaminase, Hepatomegaly, Microvesicular hepatic steato...	OMIM:613070
Immunodeficiency 21	Osteomyelitis, Aplastic anemia, B lymphocytopenia, Neutropenia, Monocytopenia, Myeloid leukemia, ...	OMIM:614172
Mirage Syndrome	Hyponatremia, Thrombocytopenia, Patent ductus arteriosus, Hyperkalemia, Leukopenia, Aspiration pn...	OMIM:617053
Primary Hepatic Neuroendocrine Carcinoma	Elevated hepatic transaminase, Hepatomegaly, Intrahepatic cholestasis with episodic jaundice, Chr...	ORPHA:100085
Darier-White Disease	Subungual hyperkeratotic fragments, Acantholysis	OMIM:124200
Corneodermatoosseous Syndrome	Thickened skin, Erythema, Palmoplantar keratoderma	ORPHA:3194
Biliary Atresia, Extrahepatic	Elevated hepatic transaminase, Hepatomegaly, Atretic gallbladder, Extrahepatic biliary duct atres...	OMIM:210500
Ataxia-Telangiectasia	Premature graying of hair, Telangiectasia of the skin, Prematurely aged appearance, Mucosal telan...	ORPHA:100
Hereditary Sensory And Autonomic Neuropathy Type 1	Hyperkeratosis, Penetrating foot ulcers, Skin ulcer, Poor wound healing	ORPHA:36386
Osteopetrosis, Autosomal Recessive 4	Hepatomegaly, Reticulocytosis, Splenomegaly, Thrombocytopenia, Anemia	OMIM:611490
Meconium Aspiration Syndrome	Respiratory distress, Neonatal asphyxia, Wheezing, Pneumothorax, Hypoxemia, Abnormal heart rate v...	ORPHA:70588
Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency	Hepatomegaly, Pancytopenia, Megaloblastic anemia, Jaundice, Increased mean corpuscular volume, In...	OMIM:613839
Osteopetrosis, Autosomal Dominant 3	Splenomegaly, Hepatomegaly, Anemia	OMIM:618107
Immunodeficiency 100 With Pulmonary Alveolar Proteinosis And Hypogammaglobulinemia	Recurrent respiratory infections, Splenomegaly, Leukocytosis, Intraalveolar phospholipid accumula...	OMIM:618042
Pearson Marrow-Pancreas Syndrome	Elevated hepatic transaminase, Hepatomegaly, Sideroblastic anemia, Pancytopenia, Pancreatic fibro...	OMIM:557000
Lipodystrophy, Congenital Generalized, Type 4	Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Elevated circulating creatine ...	OMIM:613327
Apolipoprotein C-Ii Deficiency	Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Increased circulating chylomicron concentration...	OMIM:207750
Inflammatory Pseudotumor Of The Liver	Elevated circulating aspartate aminotransferase concentration, Elevated circulating alpha-fetopro...	ORPHA:90003
Biotinidase Deficiency	Hepatomegaly, Skin rash, Recurrent skin infections, Apnea, Seborrheic dermatitis, Splenomegaly, T...	OMIM:253260
Hereditary Pulmonary Alveolar Proteinosis	Abnormal circulating protein concentration, Respiratory distress, Respiratory failure requiring a...	ORPHA:264675
Squalene Synthase Deficiency	Failure to thrive in infancy, Increased circulating farnesol concentration, Decreased LDL cholest...	OMIM:618156
Nodular Non-Suppurative Panniculitis	Erythema, Edema	ORPHA:33577
Hyperlipoproteinemia, Type Id	Hepatomegaly, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Pancreatitis, Spleno...	OMIM:615947
Listeriosis	Respiratory distress, Liver abscess, Abnormal cellular immune system morphology, Granulomatosis, ...	ORPHA:533
Systemic Lupus Erythematosus	Hemolytic anemia, Pericarditis, Lupus nephritis, Arthritis, Leukopenia, Pleuritis, Malar rash, Ne...	OMIM:152700
Adult Idiopathic Neutropenia	Abnormal neutrophil count, Monocytosis, Increased circulating IgM level, Recurrent aphthous stoma...	ORPHA:2688
Angiostrongyliasis	Increased circulating IgA level, Pruritus, Hypereosinophilia, Increased circulating specific IgE ...	ORPHA:74
Spherocytosis, Type 5	Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Spherocytosis, Abnormal platelet count...	OMIM:612690
Autoinflammation, Antibody Deficiency, And Immune Dysregulation	Erythema	OMIM:614878
Bone Marrow Failure Syndrome 2	Leukopenia, Thrombocytopenia, Bone marrow hypocellularity, Anemia	OMIM:615715
Focal Segmental Glomerulosclerosis 1	Hyperlipidemia, Hypoalbuminemia, Pleural effusion, Ascites, Anemia	OMIM:603278
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs	Dry skin, Prolonged neonatal jaundice	ORPHA:226313
Amelo-Onycho-Hypohidrotic Syndrome	Dry skin	ORPHA:1028
Combined Oxidative Phosphorylation Deficiency 22	Congestive heart failure, Pulmonary arterial hypertension	OMIM:616045
Pseudomyxoma Peritonei	Abnormal peritoneum morphology, Respiratory insufficiency, Weight loss, Lymphadenopathy, Inflamma...	ORPHA:26790
Palmoplantar Carcinoma, Multiple Self-Healing	Ectodermal dysplasia, Parakeratosis, Palmoplantar keratoderma, Follicular hyperkeratosis	OMIM:615225
Bronchiolitis Obliterans With Obstructive Pulmonary Disease	Pneumonia, Reduced forced expiratory volume in one second, Respiratory tract infection, Dyspnea, ...	ORPHA:1303
Encephalopathy, Ethylmalonic	Death in infancy, Acrocyanosis, Ataxia, Petechiae	OMIM:602473
Fountain Syndrome	Facial edema, Erythema, Cutis marmorata	ORPHA:3219
Severe Hereditary Thrombophilia Due To Congenital Protein C Deficiency	Pulmonary embolism	ORPHA:745
Typhoid	Hepatomegaly, Skin rash, Epistaxis, Splenomegaly, Abnormal pulmonary interstitial morphology, Cou...	ORPHA:99745
Syndromic Diarrhea	Aortic regurgitation, Increased mean platelet volume, Splenomegaly, Hypoplasia of the thymus, Abn...	ORPHA:84064
Lujo Hemorrhagic Fever	Elevated hepatic transaminase, Respiratory distress, Maculopapular exanthema, Skin rash, Elevated...	ORPHA:319213
Distal Duplication 6P	Dry skin	ORPHA:1745
Thrombocytopenia With Elevated Serum Iga And Renal Disease	Glomerulonephritis, Thrombocytopenia, Increased circulating IgA level	OMIM:314000
Tubulointerstitial Nephritis And Uveitis Syndrome	Normocytic anemia, Nongranulomatous uveitis, Anterior uveitis, Abnormality of retinal pigmentatio...	ORPHA:91500
Overhydrated Hereditary Stomatocytosis	Hemolytic anemia, Reticulocytosis, Decreased mean corpuscular hemoglobin concentration, Anisocyto...	ORPHA:3203
Riddle Syndrome	Generalized lymphadenopathy, Pneumonia, Elevated circulating alpha-fetoprotein concentration, Bro...	ORPHA:420741
Knuckle Pads-Leukonychia-Sensorineural Deafness-Palmoplantar Hyperkeratosis Syndrome	Hyperkeratotic papule, Palmoplantar keratoderma, Palmoplantar hyperkeratosis	ORPHA:2698
Hereditary Elliptocytosis	Hemolytic anemia, Reticulocytosis, Abnormal erythrocyte morphology, Splenomegaly, Jaundice, Stoma...	ORPHA:288
Dyskeratosis Congenita, Autosomal Dominant 1	Aplastic anemia, Thrombocytopenia, Dyspnea, Hepatic necrosis, Reticular hyperpigmentation, Premat...	OMIM:127550
Hypercalcemia, Infantile, 1	Dehydration	OMIM:143880
Periodic Fever, Familial, Autosomal Dominant	Hepatomegaly, Myositis, Maculopapular exanthema, Skin rash, Cervical lymphadenopathy, Oligoarthri...	OMIM:142680
Stormorken-Sjaastad-Langslet Syndrome	Asplenia, Anemia, Ichthyosis	ORPHA:3204
Intellectual Developmental Disorder, X-Linked, Syndromic, Nascimento Type	Dry skin	OMIM:300860
Holocarboxylase Synthetase Deficiency	Respiratory distress, Eczema, Tachypnea, Hyperammonemia, Keratoconjunctivitis, Weight loss, Throm...	ORPHA:79242
Medium Chain Acyl-Coa Dehydrogenase Deficiency	Elevated hepatic transaminase, Hepatomegaly, Elevated circulating creatine kinase concentration, ...	ORPHA:42
Symptomatic Form Of Hfe-Related Hemochromatosis	Hepatomegaly, Cholangiocarcinoma, Portal hypertension, Cardiomegaly, Increased circulating ferrit...	ORPHA:465508
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders	Respiratory distress, Recurrent respiratory infections, Abnormality of retinal pigmentation, Thro...	ORPHA:505248
Isovaleric Acidemia	Dehydration	OMIM:243500
Flynn-Aird Syndrome	Hyperkeratosis	OMIM:136300
Dystrophic Epidermolysis Bullosa Pruriginosa	Pruritus, Hyperkeratosis, Increased circulating IgE level	ORPHA:89843
Retinitis Pigmentosa, Deafness, Mental Retardation, And Hypogonadism	Dry skin	OMIM:268020
Acquired Purpura Fulminans	Thrombocytopenia, Hepatic failure, Skin rash, Elevated circulating C-reactive protein concentration	ORPHA:49566
Infantile Liver Failure Syndrome 3	Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Splenomegaly, Jaundice, Chole...	OMIM:618641
Familial Benign Copper Deficiency	Anemia, Decreased circulating copper concentration, Acne	ORPHA:1551
Anemia, Hypochromic Microcytic, With Iron Overload 1	Decreased mean corpuscular volume, Increased serum iron, Elevated hepatic iron concentration, Ery...	OMIM:206100
Sodium-Dependent Multivitamin Transporter Deficiency	Decreased circulating IgG level	OMIM:618973
Macrocephaly, Neurodevelopmental Delay, Lymphoid Hyperplasia, And Persistent Fetal Hemoglobin	Overweight, Patent ductus arteriosus, Recurrent pneumonia, Recurrent upper respiratory tract infe...	OMIM:619769
Plectin-Related Limb-Girdle Muscular Dystrophy R17	Right bundle branch block, Elevated circulating creatine kinase concentration	ORPHA:254361
Hatipoglu Immunodeficiency Syndrome	Pancytopenia, Fair hair, Eczema, Recurrent bronchitis, Hyperpigmented/hypopigmented macules, Thic...	OMIM:620331
Atrial Fibrillation, Familial, 14	ST segment elevation, Paroxysmal atrial fibrillation, Hypertension, Prolonged PR interval	OMIM:615378
Catastrophic Antiphospholipid Syndrome	Angina pectoris, Transient ischemic attack, Myocardial infarction, Pulmonary embolism, Arterial o...	ORPHA:464343
Familial Mediterranean Fever	Hepatomegaly, Pericarditis, Neutrophilia, Elevated circulating C-reactive protein concentration, ...	OMIM:249100
Dpagt1-Cdg	Ataxia, Akinesia, Aggressive behavior, Inability to walk, Head-banging, Stereotypical body rockin...	ORPHA:86309
Pachyonychia Congenita 1	Follicular hyperkeratosis, Palmoplantar hyperkeratosis	OMIM:167200
Sickle Cell Disease	Hepatomegaly, Hemolytic anemia, Cardiomegaly, Splenomegaly, Jaundice, Leukocytosis, Splenic infar...	OMIM:603903
Congenital Disorder Of Glycosylation, Type Iif	Aortic regurgitation, Macrothrombocytopenia, Neutropenia, Decreased platelet glycoprotein Ib, Thr...	OMIM:603585
Cystinosis	Polydipsia, Abnormal repetitive mannerisms, Dehydration	ORPHA:213
Renal Tubular Acidosis, Distal, 3, With Or Without Sensorineural Hearing Loss	Dehydration	OMIM:602722
Mitochondrial Phosphate Carrier Deficiency	Cyanosis, Respiratory insufficiency	OMIM:610773
Hereditary Acrokeratotic Poikiloderma	Telangiectasia of the skin, Erythema, Xerostomia, Skin ulcer, Palmoplantar hyperkeratosis, Urtica...	ORPHA:2907
Low Phospholipid-Associated Cholelithiasis	Elevated hepatic transaminase, Liver abscess, Cholangitis, Intrahepatic cholestasis, Biliary cirr...	ORPHA:69663
Isolated Right Ventricular Hypoplasia	Tricuspid regurgitation, Abnormal atrioventricular conduction, Right ventricular failure, Congest...	ORPHA:439
Amed Syndrome, Digenic	Acute myeloid leukemia, Hyperpigmentation of the skin, Anemia, Leukopenia, Bone marrow hypocellul...	OMIM:619151
Hydroxykynureninuria	Dry skin	ORPHA:79155
Dowling-Degos Disease	Skin vesicle, Hyperkeratosis, Hyperkeratotic papule, Generalized abnormality of skin	ORPHA:79145
Bone Dysplasia, Lethal Holmgren Type	Hepatomegaly, Recurrent respiratory infections, Patent ductus arteriosus, Respiratory insufficien...	ORPHA:1842
Noonan Syndrome 13	Dry skin, Bruising susceptibility, Webbed neck	OMIM:619087
Peripheral Primitive Neuroectodermal Tumor	Neoplasm of the pancreas, Elevated carcinoma antigen 125 level, Elevated circulating alpha-fetopr...	ORPHA:370348
Stuve-Wiedemann Syndrome 1	Oligohydramnios, Premature skin wrinkling, Thin skin, Dysphagia	OMIM:601559
Pemphigus Erythematosus	Acantholysis	ORPHA:79480
Mitochondrial Complex Iv Deficiency, Nuclear Type 19	Hypokinesia	OMIM:619063
Benign Recurrent Intrahepatic Cholestasis	Elevated hepatic transaminase, Jaundice, Acholic stools, Cholestatic liver disease, Cirrhosis, He...	ORPHA:65682
Celiac Disease, Susceptibility To, 1	Elevated hepatic transaminase, Macrocytic anemia, Eczema, Thyroiditis, Weight loss, Iron deficien...	OMIM:212750
Hennekam-Beemer Syndrome	Telangiectasia of the skin, Thickened skin, Erythema, Urticaria, Skin vesicle	ORPHA:2135
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 2	Right bundle branch block, Elevated circulating creatine kinase concentration	OMIM:616479
Ige Responsiveness, Atopic	Asthma, Increased circulating IgE level, Eczema, Allergic rhinitis	OMIM:147050
Autosomal Dominant Palmoplantar Keratoderma And Congenital Alopecia	Poor wound healing, Facial erythema, Palmoplantar keratoderma, Scaling skin, Dry skin, Sclerodactyly	ORPHA:1010
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2	Acute myeloid leukemia, Pancytopenia, Anemia, Increased mean corpuscular volume, Bone marrow hypo...	OMIM:619041
Thanatophoric Dysplasia Type 1	Redundant skin, Polyhydramnios, Increased nuchal translucency, Excessive wrinkled skin, Acanthosi...	ORPHA:1860
Waldenström Macroglobulinemia	Normocytic anemia, Hepatomegaly, Cryoglobulinemia, Epistaxis, Abnormality of neutrophils, Splenom...	ORPHA:33226
Aregenerative Anemia	Pancytopenia, Erythroid hypoplasia, Dyspnea, Reticulocytopenia, Lymphadenopathy, Bone marrow hypo...	ORPHA:101096
Intellectual Developmental Disorder, Autosomal Dominant 56	Broad-based gait, Ataxia, Impulsivity, Inability to walk, Attention deficit hyperactivity disorde...	OMIM:617854
Cronkhite-Canada Syndrome	Hepatomegaly, Generalized hyperpigmentation, Cachexia, Splenomegaly, Abnormality of skin pigmenta...	ORPHA:2930
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome	Severe B lymphocytopenia, Hepatic fibrosis, Cough, Decreased circulating IgG level, Accessory spl...	OMIM:620005
Neurodevelopmental Disorder With Hypotonia, Dysmorphic Facies, And Skin Abnormalities	Dry skin	OMIM:620191
Lipodystrophy, Familial Partial, Type 1	Acanthosis nigricans, Hepatomegaly, Acute pancreatitis, Hypertriglyceridemia	OMIM:608600
Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type)	Fulminant hepatic failure, Hepatomegaly, Elevated circulating aspartate aminotransferase concentr...	OMIM:618528
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities	Dry skin	OMIM:262190
Hermansky-Pudlak Syndrome 9	Recurrent skin infections, Ocular albinism, Abnormal platelet aggregation, Leukopenia, Hypopigmen...	OMIM:614171
Neuropathy, Hereditary Sensory, Type If	Hyperkeratosis, Osteomyelitis	OMIM:615632
Hemochromatosis, Type 5	Increased circulating ferritin concentration, Elevated transferrin saturation, Abnormal circulati...	OMIM:615517
19Q13.11 Microdeletion Syndrome	Dry skin, Thin skin	ORPHA:217346
Lethal Acantholytic Erosive Disorder	Fragile skin, Acantholysis	ORPHA:158687
Combined Oxidative Phosphorylation Deficiency 1	Hypokinesia	OMIM:609060
Juvenile Dermatomyositis	Telangiectasia of the skin, Erythema, Dry skin, Skin ulcer, Dysphagia, Cutaneous photosensitivity...	ORPHA:93672
Rheumatoid Factor-Negative Polyarticular Juvenile Idiopathic Arthritis	Iridocyclitis, Knee osteoarthritis, Oligoarthritis, Synovitis, Enthesitis, Uveitis, Hepatosplenom...	ORPHA:85408
Pachydermoperiostosis	Hepatomegaly, Osteomyelitis, Acne, Seborrheic dermatitis, Splenomegaly, Thickened skin, Neoplasm ...	ORPHA:2796
Infantile Osteopetrosis With Neuroaxonal Dysplasia	Pneumonia	ORPHA:85179
Deafness, Autosomal Dominant 34, With Or Without Inflammation	Arthritis, Conjunctivitis, Lymphadenopathy	OMIM:617772
Spherocytosis, Type 4	Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Spherocytosis, Hyperbilirubinemia	OMIM:612653
Vici Syndrome	Decreased circulating IgG level, Recurrent respiratory infections, Failure to thrive, Hypopigment...	OMIM:242840
Cutis Laxa, Autosomal Recessive, Type Iiib	Prominent superficial veins, Cutis laxa, Excessive wrinkled skin, Thin skin, Dermal translucency	OMIM:614438
Singleton-Merten Syndrome 2	Hyperkeratosis, Psoriasiform lesion	OMIM:616298
Macrocephaly/Autism Syndrome	Hepatomegaly, Large for gestational age, Splenomegaly, Obesity, Decreased circulating antibody le...	OMIM:605309
Supranuclear Palsy, Progressive, 1	Falls, Gait imbalance, Akinesia, Dysphagia	OMIM:601104
Lig4 Syndrome	Erythema, Cutaneous photosensitivity, Telangiectasia of the skin	ORPHA:99812
Carnitine Deficiency, Systemic Primary	Respiratory distress, Hepatomegaly, Elevated circulating aspartate aminotransferase concentration...	OMIM:212140
Cutis Laxa, Autosomal Recessive, Type Iib	Prominent superficial veins, Redundant skin, Lack of skin elasticity, Excessive wrinkled skin, Br...	OMIM:612940
Tangier Disease	Dry skin	OMIM:205400
Nicolaides-Baraitser Syndrome	Excessive wrinkled skin	ORPHA:3051
Spherocytosis, Type 2	Hemolytic anemia, Reticulocytosis, Acanthocytosis, Splenomegaly, Jaundice, Spherocytosis, Hyperbi...	OMIM:616649
Xfe Progeroid Syndrome	Cutaneous photosensitivity, Dry skin, Prematurely aged appearance, Death in adolescence	OMIM:610965
Dubowitz Syndrome	Aplastic anemia, Eczema, Acute lymphoblastic leukemia, Otitis media, Hypocholesterolemia, Decreas...	OMIM:223370
Copper Deficiency, Familial Benign	Failure to thrive, Decreased circulating copper concentration, Anemia, Seborrheic dermatitis	OMIM:121270
Atrial Septal Defect, Coronary Sinus Type	Bundle branch block, Left-to-right shunt, Abnormally loud pulmonic component of the second heart ...	ORPHA:99104
Immunodeficiency, Common Variable, 5	Recurrent respiratory infections, Chronic decreased circulating total IgG	OMIM:613495
Wiskott-Aldrich Syndrome	Abnormal delayed hypersensitivity skin test, Iron deficiency anemia, Inflammation of the large in...	OMIM:301000
Neutropenia, Severe Congenital, X-Linked	Monocytopenia, Decreased CD4:CD8 ratio, Eczema, Neutropenia	OMIM:300299
Neutropenia, Severe Congenital, 8, Autosomal Dominant	Elevated hepatic transaminase, Exocrine pancreatic insufficiency, Neutropenia	OMIM:618752
Fanconi Anemia, Complementation Group F	Hyperpigmentation of the skin, Pneumonia, Patent ductus arteriosus, Anemia, Leukopenia, Cafe-au-l...	OMIM:603467
Adult Syndrome	Ectodermal dysplasia, Cutaneous photosensitivity, Dry skin, Thin skin	OMIM:103285
Pulmonary Non-Tuberculous Mycobacterial Infection	Respiratory distress, Crackles, Dyspnea, Chronic pulmonary obstruction, Pneumothorax, Bronchiecta...	ORPHA:411703
Familial Partial Lipodystrophy, Dunnigan Type	Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Abnormality of complement system, Acanthosis ni...	ORPHA:2348
Methylmalonic Aciduria, Cbla Type	Methylmalonic acidemia, Hepatomegaly, Pancytopenia, Respiratory distress, Thrombocytopenia, Hyper...	OMIM:251100
Hypoadrenocorticism, Familial	Cyanosis, Apnea	OMIM:240200
Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2	Chronic gastritis, Recurrent respiratory infections, Increased circulating interleukin 6 concentr...	OMIM:301074
Xeroderma Pigmentosum	Conjunctival telangiectasia, Telangiectasia of the skin, Erythema, Dry skin, Telangiectasia, Hype...	ORPHA:910
Methylmalonic Acidemia With Homocystinuria Type Cblf	Hypomethioninemia, Skin rash, Megaloblastic anemia, Elevated circulating palmitoleylcarnitine con...	ORPHA:79284
Spherocytosis, Type 1	Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Spherocytosis, Hyperbilirubinemia, Cho...	OMIM:182900
Neutral Lipid Storage Disease With Ichthyosis	Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Micronodular cirrhosis, Obesit...	ORPHA:98907
Mogs-Cdg	Respiratory distress, Hepatomegaly, Hypoventilation, Decreased circulating IgG level, Apnea, Card...	ORPHA:79330
Lipodystrophy, Familial Partial, Type 7	Reduced subcutaneous adipose tissue, Decreased adipose tissue around neck, Cutis marmorata, Lack ...	OMIM:606721
Familial Partial Lipodystrophy, Köbberling Type	Acanthosis nigricans, Hepatomegaly, Hepatic steatosis, Pancreatitis	ORPHA:79084
Xeroderma Pigmentosum-Cockayne Syndrome Complex	Urticaria, Cutaneous photosensitivity, Dry skin, Prematurely aged appearance	ORPHA:220295
Acquired Partial Lipodystrophy	Progeroid facial appearance	ORPHA:79087
Immunodeficiency 55	Absent natural killer cells, Recurrent skin infections, Eczema, Lymphadenopathy, Ichthyosis, Neut...	OMIM:617827
Seborrhea-Like Dermatitis With Psoriasiform Elements	Hyperkeratosis	OMIM:610227
Erythrocytosis, Familial, 4	Pruritus, Increased hematocrit, Polycythemia, Increased hemoglobin	OMIM:611783
Methylmalonyl-Coa Epimerase Deficiency	Dehydration	OMIM:251120
Pyruvate Dehydrogenase E3 Deficiency	Elevated hepatic transaminase, Hepatomegaly, Failure to thrive, Elevated circulating branched cha...	ORPHA:2394
Immunodeficiency 17	Recurrent respiratory infections, Autoimmune hemolytic anemia, Eczema, Decreased proportion of CD...	OMIM:615607
Liver Disease, Severe Congenital	Chronic gastritis, Cardiomegaly, Biliary hyperplasia, Leukopenia, Hypocalcemia, Lymphocytosis, El...	OMIM:619991
Ectodermal Dysplasia 11B, Hypohidrotic/Hair/Tooth Type, Autosomal Recessive	Ectodermal dysplasia, Dry skin, Periorbital wrinkles	OMIM:614941
Acute Liver Failure	Elevated hepatic transaminase, Skin rash, Jaundice, Hepatitis, Hepatic necrosis, Hepatocellular n...	ORPHA:90062
Lmna-Related Cardiocutaneous Progeria Syndrome	Premature graying of hair, Scleroderma, Premature skin wrinkling	ORPHA:363618
Huntington Disease-Like 1	Restlessness, Dysmetria, Gait ataxia, Gait disturbance, Hypokinesia	ORPHA:157941
Adult Syndrome	Dry skin, Thin skin, Skin ulcer	ORPHA:978
Lesch-Nyhan Syndrome	Anemia, Hyperuricemia, Gout	ORPHA:510
Combined Oxidative Phosphorylation Deficiency 51	Neonatal respiratory distress, Respiratory failure, Small for gestational age, Aspiration pneumonia	OMIM:619057
Marburg Hemorrhagic Fever	Elevated circulating creatine kinase concentration, Nonproductive cough, Uveitis, Leukopenia, Hyp...	ORPHA:99826
Autoimmune Pulmonary Alveolar Proteinosis	Cyanosis, Crackles, Dyspnea, Hypoxemia, Restrictive ventilatory defect, Cough, Decreased DLCO	ORPHA:747
Citrullinemia Type Ii	Elevated hepatic transaminase, Hepatomegaly, Decreased HDL cholesterol concentration, Acute hyper...	ORPHA:247585
Tubulointerstitial Kidney Disease, Autosomal Dominant, 5	Elevated circulating creatinine concentration, Gout, Hyperuricemia, Neutropenia, Anemia	OMIM:617056
Pseudohypoaldosteronism, Type Ib3, Autosomal Recessive	Dehydration	OMIM:620126
Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects	Parakeratosis, Erythema, Hyperkeratosis, Congenital ichthyosiform erythroderma, Stillbirth, Ortho...	OMIM:308050
Neurodevelopmental Disorder With Epilepsy And Hemochromatosis	Hepatomegaly, Seborrheic dermatitis, Splenomegaly, Micronodular cirrhosis, Ascites, Truncal obesi...	OMIM:301072
Benign Familial Neonatal Epilepsy	Circumoral cyanosis, Apnea	ORPHA:1949
Idiopathic Non-Lupus Full-House Nephropathy	Skin rash, Glomerulonephritis, Elevated circulating creatinine concentration, Synovitis, Arthriti...	ORPHA:567544
Alternating Hemiplegia Of Childhood	Impulsivity, Aggressive behavior, Anorexia, Oral-pharyngeal dysphagia, Dehydration, Pallor, Dysph...	ORPHA:2131
Histiocytosis-Lymphadenopathy Plus Syndrome	Episcleritis, Hepatomegaly, Cardiomegaly, Retroperitoneal fibrosis, Splenomegaly, Patent ductus a...	OMIM:602782
Osteopetrosis, Autosomal Recessive 2	Pancytopenia, Osteomyelitis, Extramedullary hematopoiesis, Mandibular osteomyelitis, Thrombocytop...	OMIM:259710
Osteopetrosis, Autosomal Recessive 5	Hepatomegaly, Pancytopenia, Extramedullary hematopoiesis, Thrombocytopenia, Leukocytosis, Splenom...	OMIM:259720
Progressive Encephalopathy With Leukodystrophy Due To Decr Deficiency	Failure to thrive, Abnormal circulating carnitine concentration, Decreased activity of NADPH oxid...	ORPHA:431361
Congenital Dyserythropoietic Anemia Type Iii	Elevated hepatic transaminase, Anisocytosis, Abnormal erythrocyte morphology, Increased serum iro...	ORPHA:98870
Pseudohypoaldosteronism, Type Ib2, Autosomal Recessive	Dehydration	OMIM:620125
Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome	Cyanosis, Aggressive behavior, Gait disturbance, Gait imbalance, Difficulty walking, Dysphagia	ORPHA:488627
Carnitine Palmitoyltransferase I Deficiency	Elevated hepatic transaminase, Hepatomegaly, Elevated circulating aspartate aminotransferase conc...	OMIM:255120
Combined Oxidative Phosphorylation Deficiency 40	Decreased circulating cortisol level, Elevated circulating creatine kinase concentration, Decreas...	OMIM:618835
Citrullinemia, Type Ii, Neonatal-Onset	Decreased HDL cholesterol concentration, Conjugated hyperbilirubinemia, Microvesicular hepatic st...	OMIM:605814
Lipoid Proteinosis	Recurrent respiratory infections, Acne, Pustule, Thickened skin, Hyperkeratosis	ORPHA:530
Triosephosphate Isomerase Deficiency	Normocytic anemia, Hemolytic anemia, Macrocytic anemia, Failure to thrive, Respiratory distress, ...	OMIM:615512
Stomatin-Deficient Cryohydrocytosis With Neurologic Defects	Hepatomegaly, Hemolytic anemia, Conjugated hyperbilirubinemia, Splenomegaly, Jaundice, Hyperkalem...	OMIM:608885
Pediatric-Onset Graves Disease	Elevated hepatic transaminase, Hepatomegaly, Episcleritis, Keratitis, Splenomegaly, Jaundice, Neo...	ORPHA:525731
Combined Oxidative Phosphorylation Deficiency 42	Decreased circulating cortisol level, Elevated circulating creatine kinase concentration, Decreas...	OMIM:618839
Agammaglobulinemia 9, Autosomal Recessive	Seborrheic dermatitis, Agammaglobulinemia, Eczematoid dermatitis, Absent circulating B cells, Fai...	OMIM:619693
Pseudo-Torch Syndrome 1	Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Patent ductus arteriosus, Jaundice, De...	OMIM:251290
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 2	Death in childhood, Erythema, Aggressive behavior	OMIM:618321
Mitochondrial Complex I Deficiency, Nuclear Type 35	Cardiomyopathy, Neonatal respiratory distress, Pulmonary arterial hypertension	OMIM:619003
Mpi-Cdg	Hepatomegaly, Abnormal circulating enzyme concentration or activity, Portal hypertension, Hepatic...	ORPHA:79319
Myotonic Dystrophy 2	Tachycardia, Elevated circulating creatine kinase concentration, Premature ventricular contractio...	OMIM:602668
Alpha-Mannosidosis, Adult Form	Pancytopenia, Pneumonia, Hepatosplenomegaly	ORPHA:309288
Microscopic Polyangiitis	Erythema, Cutis marmorata, Subcutaneous hemorrhage, Skin ulcer	ORPHA:727
Peeling Skin Syndrome 1	Eosinophilia, Pruritus, Asthma, Increased circulating IgE level, Erythroderma	OMIM:270300
Chronic Thromboembolic Pulmonary Hypertension	Reduced vital capacity, Cardiac shunt, Pulmonary embolism, Right ventricular failure, Increased p...	ORPHA:70591
Yellow Nail Syndrome	Sinusitis, Biliary tract neoplasm, Dyspnea, Bronchiectasis, Hypoplasia of lymphatic vessels, Rhin...	ORPHA:662
Granulomatosis With Polyangiitis	Episcleritis, Sinusitis, Diffuse alveolar hemorrhage, Keratitis, Localized pulmonary hemorrhage, ...	OMIM:608710
Tricuspid Atresia	Cyanosis	ORPHA:1209
Pseudohypoaldosteronism, Type Ib1, Autosomal Recessive	Dehydration	OMIM:264350
Congenital Disorder Of Glycosylation, Type Im	Death in infancy, Dry skin	OMIM:610768
Acrodermatitis Enteropathica, Zinc-Deficiency Type	Dry skin, Perianal erythema, Perioral erythema	OMIM:201100
Trichothiodystrophy 3, Photosensitive	Lymphopenia, Increased circulating IgA level, Abdominal adhesions, Ichthyosis, Congenital ichthyo...	OMIM:616395
Ciliary Dyskinesia, Primary, 1	Pneumonia, Asplenia, Atelectasis, Bronchiectasis, Immotile cilia, Chronic rhinitis, Chronic otiti...	OMIM:244400
Porphyria, Congenital Erythropoietic	Hepatomegaly, Hemolytic anemia, Hyperpigmentation of the skin, Splenomegaly, Jaundice, Thickened ...	OMIM:263700
Osteootohepatoenteric Syndrome	Pruritus, Microvesicular hepatic steatosis, Asthma, Cholestasis, Weight loss, Hypokalemia, Portal...	OMIM:619377
Igg4-Related Dacryoadenitis And Sialadenitis	Myositis, Increased circulating IgG4 level, Increased circulating IgA level, Retroperitoneal fibr...	ORPHA:79078
Autosomal Recessive Dopa-Responsive Dystonia	Ataxia, Hypokinesia, Gait ataxia	ORPHA:101150
Fg Syndrome Type 1	Facial wrinkling, Attention deficit hyperactivity disorder, Compulsive behaviors	ORPHA:93932
Buerger Disease	Acrocyanosis	ORPHA:36258
Reynolds Syndrome	Hepatomegaly, Skin rash, Pruritus, Jaundice, Respiratory insufficiency, Arthritis, Keratoconjunct...	ORPHA:779
Hyperparathyroidism, Neonatal Severe	Calcinosis, Hepatomegaly, Hypercalcemia, Splenomegaly, Dyspnea, Tachypnea, Hypophosphatemia, Fail...	OMIM:239200
Sialidosis Type 1	Hyperkeratosis, Splenomegaly	ORPHA:812
Radio-Tartaglia Syndrome	Dry skin, Striae distensae	OMIM:619312
Hidrotic Ectodermal Dysplasia	Thickened skin, Palmoplantar hyperkeratosis, Cobblestone-like hyperkeratosis, Palmoplantar kerato...	ORPHA:189
Agammaglobulinemia 1, Autosomal Recessive	Recurrent respiratory infections, Recurrent pneumonia, Neutropenia, Bronchiectasis, Decreased cir...	OMIM:601495
Glycogen Storage Disease Ib	Elevated hepatic transaminase, Hepatomegaly, Pancreatic fibrosis, Splenomegaly, Hyperlipidemia, N...	OMIM:232220
Neuraminidase Deficiency	Hepatomegaly, Bone-marrow foam cells, Cardiomegaly, Splenomegaly, Vacuolated lymphocytes, Ascites	OMIM:256550
Infantile Liver Failure Syndrome 2	Elevated hepatic transaminase, Cardiomyopathy, Jaundice, Acute hepatic failure	OMIM:616483
Pparg-Related Familial Partial Lipodystrophy	Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Hyperuricemia, Cirrhosis, Acanthosis nigricans,...	ORPHA:79083
X-Linked Intellectual Disability-Limb Spasticity-Retinal Dystrophy-Diabetes Insipidus Syndrome	Elevated amniotic fluid alpha-fetoprotein, Severe failure to thrive, HbH hemoglobin, Prolonged ne...	ORPHA:423479
Spondyloenchondrodysplasia With Immune Dysregulation	Recurrent respiratory infections, Pneumonia, Hypermelanotic macule, Autoimmune thrombocytopenia, ...	OMIM:607944
Nicolaides-Baraitser Syndrome	Aggressive behavior, Excessive wrinkled skin, Periorbital wrinkles, Attention deficit hyperactivi...	OMIM:601358
Hypotrichosis And Recurrent Skin Vesicles	Skin vesicle, Follicular hyperkeratosis	OMIM:613102
Congenital Short Bowel Syndrome	Dehydration	OMIM:615237
Congenital Gerbode Defect	Elevated right atrial pressure, Tricuspid regurgitation, Left-to-right shunt, Crackles, Right ven...	ORPHA:99095
Pigmentary Disorder, Reticulate, With Systemic Manifestations, X-Linked	Failure to thrive in infancy, Increased circulating interleukin 8 concentration, Recurrent pneumo...	OMIM:301220
Secondary Short Bowel Syndrome	Polyphagia, Dehydration	ORPHA:95427
Scedosporiosis	Unusual skin infection, Pericarditis, Arthralgia/arthritis, Sinusitis, Pneumonia, Osteomyelitis, ...	ORPHA:449280
Glycogen Storage Disease Ii	Hepatomegaly, Recurrent respiratory infections, Increased circulating NT-proBNP concentration, El...	OMIM:232300
Syndromic Recessive X-Linked Ichthyosis	Ichthyosis, Hyperkeratosis, Acute leukemia	ORPHA:281090
Corticosterone Methyloxidase Type Ii Deficiency	Dehydration	OMIM:610600
Dravet Syndrome	Progressive gait ataxia, Obsessive-compulsive trait, Cyanotic episode, Impulsivity	ORPHA:33069
Alpha-N-Acetylgalactosaminidase Deficiency Type 2	Telangiectasia of the oral mucosa, Telangiectasia of the skin, Lymphedema, Lip telangiectasia, An...	ORPHA:79280
Fanconi Anemia, Complementation Group V	Elevated circulating alpha-fetoprotein concentration, Thrombocytopenia, Bone marrow hypocellulari...	OMIM:617243
Corticosterone Methyloxidase Type I Deficiency	Dehydration	OMIM:203400
Warty Dyskeratoma	Acantholysis	ORPHA:69745
3-Hydroxy-3-Methylglutaric Aciduria	Anorexia, Edema, Jaundice, Dehydration, Pallor	ORPHA:20
Takayasu Arteritis	Hypertensive crisis, Myocardial infarction, Vasculitis, Hypertension, Cerebral ischemia, Pulmonar...	ORPHA:3287
Sengers Syndrome	Cardiac arrest, Sudden cardiac death, Respiratory insufficiency, Pulmonary arterial hypertension,...	OMIM:212350
Ebstein Malformation Of The Tricuspid Valve	Atrial fibrillation, Sudden cardiac death, Congestive heart failure, Right bundle branch block, C...	ORPHA:1880
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome	Elevated hepatic transaminase, Hepatomegaly, Abnormal blood inorganic cation concentration, Porta...	ORPHA:309854
Granulomatosis With Polyangiitis	Sinusitis, Elevated circulating C-reactive protein concentration, Granulomatosis, Otitis media, C...	ORPHA:900
Peripheral Motor Neuropathy-Dysautonomia Syndrome	Acrocyanosis	ORPHA:2400
Congenital Disorder Of Glycosylation, Type Ib	Hepatomegaly, Failure to thrive, Hepatic fibrosis, Hypoalbuminemia, Cirrhosis, Steatorrhea, Hepat...	OMIM:602579
Bachmann-Bupp Syndrome	Dry skin	OMIM:619075
Noonan Syndrome 14	Dry skin, Bruising susceptibility, Webbed neck	OMIM:619745
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 4	Arrhythmia, Elevated circulating creatine kinase concentration, Left bundle branch block, Ventric...	OMIM:610131
Glucose/Galactose Malabsorption	Hypertonic dehydration	OMIM:606824
Barber-Say Syndrome	Premature skin wrinkling, Dry skin, Redundant skin, Dermal translucency	OMIM:209885
Porphyria Variegata	Elevated hepatic transaminase, Abnormal circulating enzyme concentration or activity, Hyponatremi...	ORPHA:79473
Ataxia-Telangiectasia-Like Disorder 2	Conjunctival telangiectasia, Progeroid facial appearance, Cutaneous telangiectasia, Dysphagia, Cu...	OMIM:615919
Congenital Heart Block	Pleural effusion, Cyanosis, Crackles	ORPHA:60041
Cardiomyopathy, Dilated, 2D	Tricuspid regurgitation, Dilated cardiomyopathy, Pulmonary arterial hypertension, Mitral regurgit...	OMIM:619371
Focal Facial Dermal Dysplasia Type Iii	Prematurely aged appearance, Redundant skin	ORPHA:1807
Tyrosinemia, Type I	Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Hypertyrosinemia, Failure to ...	OMIM:276700
Ectodermal Dysplasia-Intellectual Disability-Central Nervous System Malformation Syndrome	Dry skin, Thin skin	ORPHA:1812
Progeroid Syndrome, Petty Type	Reduced subcutaneous adipose tissue, Prematurely aged appearance, Redundant skin, Cutis laxa	ORPHA:2963
Cholestasis, Benign Recurrent Intrahepatic, 2	Hepatomegaly, Conjugated hyperbilirubinemia, Intrahepatic cholestasis, Jaundice, Pruritus, Elevat...	OMIM:605479
Diamond-Blackfan Anemia 6	Macrocytic anemia, Patent ductus arteriosus, Persistence of hemoglobin F, Increased mean corpuscu...	OMIM:612561
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome	Hyponatremia, Pancytopenia, Hypomagnesemia, Thrombocytopenia, Respiratory insufficiency, Leukopen...	OMIM:613845
Erythrocytosis, Familial, 2	Increased hemoglobin, Increased red blood cell mass, Increased hematocrit, Pulmonary arterial hyp...	OMIM:263400
Congenital Tricuspid Stenosis	Tricuspid regurgitation, Tricuspid stenosis, Congestive heart failure, Heart murmur, Hypotension,...	ORPHA:95459
Propionic Acidemia	Propionyl-CoA carboxylase deficiency, Hepatomegaly, Hyperammonemia	ORPHA:35
Ectodermal Dysplasia/Short Stature Syndrome	Hyperkeratosis, Palmoplantar keratoderma, Dysphagia	OMIM:616029
Carcinoid Syndrome	Elevated hepatic transaminase, Chronic noninfectious lymphadenopathy, Asthma, Hepatic necrosis, B...	ORPHA:100093
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib	Inflammation of the large intestine, Periodontitis, Hepatic steatosis, Hepatomegaly, Anemia, Hepa...	ORPHA:79259
Relapsing Polychondritis	Episcleritis, Pericarditis, Chondritis of pinna, Keratitis, Myocarditis, Atelectasis, Dyspnea, He...	ORPHA:728
Coenzyme Q10 Deficiency, Primary, 2	Aortic regurgitation, Pulmonary arterial hypertension, Mitral regurgitation	OMIM:614651
Polymyositis	Hepatomegaly, Pericarditis, Elevated circulating creatine kinase concentration, Abnormal pulmonar...	ORPHA:732
Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia	Dehydration	OMIM:560000
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly	Hepatomegaly, Splenomegaly, Obesity, Cholestasis, Hepatic fibrosis, Hepatic failure	OMIM:615630
Combined Oxidative Phosphorylation Defect Type 23	Stridor, Paroxysmal dyspnea, Respiratory failure, Cyanosis	ORPHA:444013
Werner Syndrome	Scleroderma, Prematurely aged appearance, Progeroid facial appearance, Subcutaneous calcification	OMIM:277700
Mitochondrial Dna Depletion Syndrome 4A (Alpers Type)	Acute hepatic failure, Elevated hepatic transaminase, Jaundice, Astrocytosis, Gliosis, Hepatic fa...	OMIM:203700
Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome	Reduced subcutaneous adipose tissue, Palpebral edema, Nonimmune hydrops fetalis, Lymphedema, Epid...	OMIM:137940
Trichothiodystrophy 1, Photosensitive	Death in infancy, Cutaneous photosensitivity, Dry skin, Telangiectasia	OMIM:601675
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome	Hyponatremia, Decreased circulating cortisol level, Psoriasiform dermatitis, Severe B lymphocytop...	ORPHA:293978
Neonatal Acute Respiratory Distress Due To Sp-B Deficiency	Neonatal respiratory distress, Spontaneous neonatal pneumothorax, Tachypnea, Interstitial pneumon...	ORPHA:217563
Acquired Hypertrichosis Lanuginosa	Hypopigmentation of hair, Thickened skin, Weight loss, Lymphadenopathy, Ichthyosis, Acanthosis ni...	ORPHA:2221
Segmental Outgrowth-Lipomatosis-Arteriovenous Malformation-Epidermal Nevus Syndrome	Excessive wrinkled skin	ORPHA:137608
Stevens-Johnson Syndrome	Acute hepatic failure, Elevated hepatic transaminase, Recurrent respiratory infections, Abnormali...	ORPHA:36426
Livedoid Vasculopathy	Pancytopenia, Superficial dermal perivascular inflammatory infiltrate, Recurrent skin infections,...	ORPHA:542643
Uremic Pruritus	Dry skin, Generalized abnormality of skin	ORPHA:94059
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type	Death in infancy, Tachypnea, Death in childhood, Pulmonary arterial hypertension, Hypokinesia	OMIM:613320
Pyoderma Gangrenosum	Myositis, Pustule, Inflammation of the large intestine, Increased circulating antibody level, Rhe...	ORPHA:48104
Donohue Syndrome	Hypermelanotic macule, Acanthosis nigricans, Cholestasis, Hyperkeratosis, Hepatic fibrosis, Pancr...	OMIM:246200
Hemorrhagic Fever-Renal Syndrome	Elevated hepatic transaminase, Respiratory distress, Increased circulating interleukin 6 concentr...	ORPHA:340
Atopic Keratoconjunctivitis	Dry skin	ORPHA:163934
Hyperpigmentation With Or Without Hypopigmentation, Familial Progressive	Hyperkeratosis	OMIM:145250
Carnitine Palmitoyl Transferase Ii Deficiency, Severe Infantile Form	Elevated hepatic transaminase, Hepatomegaly, Elevated circulating creatine kinase concentration, ...	ORPHA:228305
Pseudohypoaldosteronism, Type I, Autosomal Dominant	Dehydration	OMIM:177735
Tooth Agenesis, Selective, 4	Dry skin, Thin skin	OMIM:150400
Ciliary Dyskinesia, Primary, 42	Pneumonia, Reduced forced vital capacity, Chronic pulmonary obstruction, Bronchiectasis, Respirat...	OMIM:618695
Combined Immunodeficiency With Facio-Oculo-Skeletal Anomalies	Neonatal respiratory distress, Psoriasiform dermatitis, Decreased lymphocyte proliferation in res...	ORPHA:221139
African Trypanosomiasis	Miscarriage, Akinesia, Aggressive behavior, Splenomegaly, Jaundice, Hepatosplenomegaly, Choreoath...	ORPHA:3385
Familial Pancreatic Carcinoma	Elevated hepatic transaminase, Pancreatic adenocarcinoma, Jaundice, Extrahepatic cholestasis, Hep...	ORPHA:1333
Smith-Lemli-Opitz Syndrome	Hepatomegaly, Eczema, Splenomegaly, Patent ductus arteriosus, Abnormal lung lobation, Cholestatic...	OMIM:270400
Nephronophthisis 19	Hepatomegaly, Malformation of the hepatic ductal plate, Splenomegaly, Cholestasis, Bile duct prol...	OMIM:616217
Spastic Paraplegia Type 2	Pulmonary embolism	ORPHA:99015
Hyperlipoproteinemia, Type I	Splenomegaly, Jaundice, Hyperlipidemia, Hepatosplenomegaly, Lactescent serum, Increased circulati...	OMIM:238600
Neurodevelopmental Disorder With Hypotonia, Neonatal Respiratory Insufficiency, And Thermodysregulation	Dry skin	OMIM:618797
Toxic Epidermal Necrolysis	Erythema, Skin ulcer, Acantholysis	ORPHA:537
Mycetoma	Recurrent bacterial skin infections, Osteomyelitis, Abdominal mass, Pelvic mass, Abnormality of t...	ORPHA:2583
Familial Thrombocytosis	Acute myeloid leukemia, Transient ischemic attack, Splenomegaly, Chronic myelogenous leukemia, Pu...	ORPHA:71493
Blau Syndrome	Pericarditis, Skin rash, Hyperpigmentation of the skin, Keratitis, Retrobulbar optic neuritis, Er...	ORPHA:90340
Refsum Disease	Dry skin	ORPHA:773
Cardiofaciocutaneous Syndrome	Redundant skin, Lymphedema, Hyperkeratosis, Ichthyosis, Palmoplantar keratoderma, Excessive wrink...	ORPHA:1340
Cataract-Intellectual Disability-Hypogonadism Syndrome	Prematurely aged appearance	ORPHA:1387
Malt Lymphoma	Recurrent respiratory infections, Mediastinal lymphadenopathy, Weight loss, Lymphadenopathy, Post...	ORPHA:52417
Alg11-Cdg	Dry skin	ORPHA:280071
Macrothrombocytopenia-Lymphedema-Developmental Delay-Facial Dysmorphism-Camptodactyly Syndrome	Thrombocytopenia, Increased mean platelet volume	ORPHA:487796
Gm1 Gangliosidosis	Recurrent respiratory infections, Splenomegaly, Patent ductus arteriosus, Thickened skin, Hepatos...	ORPHA:354
Immunodeficiency, Common Variable, 10	Decreased circulating IgG level, Psoriasiform dermatitis, Asthma, Recurrent pneumonia, Decreased ...	OMIM:615577
Mitochondrial Myopathy, Episodic, With Or Without Optic Atrophy And Reversible Leukoencephalopathy	Hepatomegaly, Elevated circulating creatine kinase concentration, Microcytic anemia, Dyspnea, Hig...	OMIM:251900
Neonatal Inflammatory Skin And Bowel Disease	Erythema, Psoriasiform dermatitis, Generalized abnormality of skin, Scaling skin	ORPHA:294023
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset	Respiratory distress, Hepatomegaly, Abnormal circulating enzyme concentration or activity, Respir...	ORPHA:308552
Ethylmalonic Encephalopathy	Acrocyanosis, Ataxia, Petechiae	ORPHA:51188
Blue Rubber Bleb Nevus	Skin rash, Microcytic anemia	ORPHA:1059
Autosomal Recessive Malignant Osteopetrosis	Hepatomegaly, Recurrent respiratory infections, Apnea, Splenomegaly, Pulmonary artery stenosis, H...	ORPHA:667
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of	Hepatomegaly, Necrotizing enterocolitis, Elevated circulating creatine kinase concentration, Card...	OMIM:201475
Ablepharon-Macrostomia Syndrome	Premature skin wrinkling, Redundant skin, Dry skin, Thin skin	OMIM:200110
Car T Cell Therapy-Associated Cytokine Release Syndrome	Elevated hepatic transaminase, Increased inflammatory response, Increased circulating interleukin...	ORPHA:542323
Hyperchlorhidrosis, Isolated	Hypernatremic dehydration	OMIM:143860
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 5	Pneumonia, Restrictive ventilatory defect, Elevated circulating creatine kinase concentration, Ri...	OMIM:253700
Adult Acute Respiratory Distress Syndrome	Increased circulating interleukin 6 concentration, Pneumonia, Dyspnea, Hypoxemia, Abnormal circul...	ORPHA:70578
Autosomal Dominant Hyper-Ige Syndrome	Recurrent respiratory infections, Osteomyelitis, Skin rash, Eczema, Eosinophilia, Pruritus, Atele...	ORPHA:2314
Familial Multiple Nevi Flammei	Intracranial hemorrhage, Arrhythmia, Pulmonary embolism	ORPHA:624
Resistance To Thyrotropin-Releasing Hormone Syndrome	Dry skin, Prolonged neonatal jaundice	ORPHA:99832
Papillon-Lefèvre Syndrome	Recurrent cutaneous abscess formation, Recurrent respiratory infections, Liver abscess, Severe pe...	ORPHA:678
Neuroendocrine Tumor Of The Colon	Elevated hepatic transaminase, Hepatomegaly, Tricuspid regurgitation, Chronic noninfectious lymph...	ORPHA:100080
Primary Ciliary Dyskinesia	Recurrent sinopulmonary infections, Neonatal respiratory distress, Peribronchovascular interstiti...	ORPHA:244
Leukocyte Adhesion Deficiency	Sinusitis, Severe periodontitis, Conjunctivitis, Otitis media, Vaginitis, Polycythemia, Perianal ...	ORPHA:2968
Gaucher Disease Type 3	Hepatomegaly, Pancytopenia, Recurrent respiratory infections, Splenomegaly, Abnormal pulmonary in...	ORPHA:77261
Ullrich Congenital Muscular Dystrophy 1	Respiratory insufficiency due to muscle weakness, Respiratory insufficiency, Nocturnal hypoventil...	OMIM:254090
Deafness, Neural, With Atypical Atopic Dermatitis	Late onset atopic dermatitis, Increased circulating IgE level	OMIM:221700
Restrictive Dermopathy 2	Respiratory distress, Cyanosis	OMIM:619793
Systemic Lupus Erythematosus	Hemolytic anemia, Lupus nephritis, Discoid lupus rash, Cheilitis, Lymphadenopathy, Arthritis, Leu...	ORPHA:536
Agel Amyloidosis	Dry skin, Dermatological manifestations of systemic disorders, Bruising susceptibility, Cutis laxa	ORPHA:85448
Parkinson Disease 1, Autosomal Dominant	Gait disturbance, Shuffling gait, Dysphagia, Loss of ambulation, Hypokinesia	OMIM:168601
Alpha-Thalassemia Myelodysplasia Syndrome	Reduced alpha/beta synthesis ratio, HbH hemoglobin, Hypochromic microcytic anemia	OMIM:300448
Milroy Disease	Hyperkeratosis, Predominantly lower limb lymphedema, Pedal edema, Lymphedema	ORPHA:79452
Hypohidrotic Ectodermal Dysplasia	Dry skin, Thin skin	ORPHA:238468
German Syndrome	Hypokinesia, Dysphagia	ORPHA:2077
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 7	Portal hypertension, Thrombocytopenia, Premature graying of hair, Pulmonary fibrosis, Emphysema, ...	OMIM:620365
Chronic Visceral Acid Sphingomyelinase Deficiency	Hepatomegaly, Decreased HDL cholesterol concentration, Abnormal circulating lipid concentration, ...	ORPHA:77293
Ehlers-Danlos Syndrome, Classic-Like, 2	Prominent superficial veins, Prematurely aged appearance, Redundant skin, Poor wound healing, Web...	OMIM:618000
Early-Onset Familial Hypoaldosteronism	Dehydration	ORPHA:556030
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome	Eczema, Thrombocytopenia, Recurrent upper respiratory tract infections, Reticulocytopenia, Leukop...	ORPHA:508542
Total Anomalous Pulmonary Venous Return 1	Pulmonary arterial hypertension	OMIM:106700
Neuroleptic Malignant Syndrome	Elevated hepatic transaminase, Hyponatremia, Thrombocytosis, Elevated circulating creatine kinase...	ORPHA:94093
Klatskin Tumor	Hepatomegaly, Cholangiocarcinoma, Jaundice, Extrahepatic cholestasis, Weight loss, Lymphadenopathy	ORPHA:99978
Rapp-Hodgkin Syndrome	Anhidrotic ectodermal dysplasia, Dry skin, Thin skin	OMIM:129400
Autosomal Recessive Cutis Laxa Type 2A	Excessive wrinkled skin, Progeroid facial appearance	ORPHA:357058
Vipoma	Anorexia, Erythema, Dehydration, Intermittent jaundice, Ascites, Subcutaneous lipoma	ORPHA:97282
Werner Syndrome	Prematurely aged appearance, Telangiectasia of the skin, Lack of skin elasticity, Skin ulcer, Pre...	ORPHA:902
Scorpion Envenomation	Bundle branch block, Tachycardia, Increased circulating NT-proBNP concentration, Cardiac conducti...	ORPHA:466677
Hardikar Syndrome	Intrahepatic bile duct cysts, Cholangitis, Hepatic fibrosis, Intrahepatic bile duct dilatation, H...	OMIM:301068
Cardiofaciocutaneous Syndrome 3	Hyperkeratosis, Webbed neck	OMIM:615279
Warburg-Cinotti Syndrome	Poor wound healing, Erythema, Thin skin, Follicular hyperkeratosis	OMIM:618175
Immunodeficiency 10	Autoimmune hemolytic anemia, Thrombocytopenia, Lymphadenopathy	OMIM:612783
Eosinophilic Fasciitis	Acrocyanosis, Abnormal eosinophil morphology, Eosinophilia	ORPHA:3165
Acute Disseminated Encephalomyelitis	Respiratory failure requiring assisted ventilation, Viral hepatitis, Herpes simplex encephalitis,...	ORPHA:83597
Chromosome 19Q13.11 Deletion Syndrome, Distal	Reduced subcutaneous adipose tissue, Dry skin	OMIM:613026
Timothy Syndrome	Pneumonia, Bronchitis, Cardiomegaly, Patent ductus arteriosus, Hypocalcemia, Pulmonary arterial h...	OMIM:601005
Erythrocytosis, Familial, 5	Increased hematocrit, Polycythemia, Increased hemoglobin	OMIM:617907
Non-Progressive Predominantly Posterior Cavitating Leukoencephalopathy With Peripheral Neuropathy	Hepatomegaly, Respiratory insufficiency due to muscle weakness, Pigmentary retinopathy, Decreased...	ORPHA:436271
Kaposiform Lymphangiomatosis	Epistaxis, Pancreatic cysts, Splenomegaly, Abnormal lung morphology, Dyspnea, Abnormality of the ...	ORPHA:464329
Dermatosparaxis Ehlers-Danlos Syndrome	Excessive wrinkled skin, Abnormality of subcutaneous fat tissue, Thin skin	ORPHA:1901
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 1	Poor wound healing, Excessive wrinkled skin, Thin skin, Follicular hyperkeratosis, Palmoplantar c...	OMIM:225400
Aromatic L-Amino Acid Decarboxylase Deficiency	Apnea, Diminished movement, Tongue thrusting, Cardiorespiratory arrest, Choreoathetosis, Athetosis	OMIM:608643
Mitochondrial Complex Iv Deficiency, Nuclear Type 1	Respiratory distress, Hepatomegaly, Respiratory insufficiency due to muscle weakness, Pigmentary ...	OMIM:220110
Glucagonoma	Neoplasm of the pancreas, Hepatomegaly, Skin rash, Hypercalcemia, Acanthocytosis, Pruritus, Intra...	ORPHA:97280
Neurodevelopmental Disorder With Cerebral Atrophy And Variable Facial Dysmorphism	Dry skin	OMIM:619244
Tracheobronchopathia Osteochondroplastica	Recurrent respiratory infections, Pneumonia, Bronchitis, Productive cough, Atelectasis, Wheezing,...	ORPHA:3348
Limited Cutaneous Systemic Sclerosis	Pulmonary arterial hypertension, Telangiectasia of the skin, Mucosal telangiectasiae	ORPHA:220402
Erythrocytosis, Familial, 3	Increased red blood cell mass, Increased hematocrit, Increased hemoglobin	OMIM:609820
Diabetes Insipidus, Nephrogenic, 2, Autosomal	Polydipsia, Hypertonic dehydration	OMIM:125800
Renal-Hepatic-Pancreatic Dysplasia 1	Hepatomegaly, Pancreatic fibrosis, Malformation of the hepatic ductal plate, Portal hypertension,...	OMIM:208540
Pancreatic Lipase Deficiency	Hypocholesterolemia, Steatorrhea	OMIM:614338
Diabetes Insipidus, Nephrogenic, 1, X-Linked	Polydipsia, Hypertonic dehydration	OMIM:304800
Eosinophilic Granulomatosis With Polyangiitis	Sinusitis, Cutis marmorata, Eosinophilia, Cough, Asthma, Respiratory insufficiency, Urticaria, Ga...	ORPHA:183
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form	Erythema, Palmoplantar keratoderma, Generalized abnormality of skin, Fragile skin	ORPHA:79396
Immunoneurologic Disorder, X-Linked	Neonatal death, Decreased circulating IgG2 level, Small for gestational age	OMIM:300076
Mixed-Type Autoimmune Hemolytic Anemia	Exertional dyspnea, Autoimmune hemolytic anemia, Skin rash, Increased total bilirubin	ORPHA:90036
Igg4-Related Thyroid Disease	Pancreatic fibrosis, Increased circulating IgG4 level, Retroperitoneal fibrosis, Thyroiditis, Scl...	ORPHA:64744
B4Galt7-Related Spondylodysplastic Ehlers-Danlos Syndrome	Thin skin, Progeroid facial appearance, Cutis laxa	ORPHA:75496
Cutis Laxa, Autosomal Recessive, Type Iia	Excessive wrinkled skin, Redundant skin, Cutis laxa	OMIM:219200
Incontinentia Pigmenti	Hyperkeratosis, Erythema, Telangiectasia of the skin, Skin ulcer	ORPHA:464
Keppen-Lubinsky Syndrome	Progeroid facial appearance, Premature skin wrinkling, Polyhydramnios	ORPHA:435628
Subaortic Stenosis-Short Stature Syndrome	Acne, Biliary tract abnormality, Obesity, Respiratory insufficiency, Abnormal circulating lipid c...	ORPHA:3191
Senior-Boichis Syndrome	Elevated hepatic transaminase, Malformation of the hepatic ductal plate, Portal hypertension, Con...	ORPHA:84081
Adams-Oliver Syndrome 5	Portal vein thrombosis, Splenomegaly, Hypersplenism, Pulmonic stenosis, Pulmonary arterial hypert...	OMIM:616028
Kanzaki Disease	Telangiectasia of the oral mucosa, Lymphedema, Lip telangiectasia, Angiokeratoma corporis diffusu...	OMIM:609242
Hermansky-Pudlak Syndrome 10	Hepatomegaly, Recurrent respiratory infections, Apnea, Albinism, Splenomegaly, Ocular albinism, A...	OMIM:617050
Renal-Hepatic-Pancreatic Dysplasia 2	Hepatomegaly, Malformation of the hepatic ductal plate, Asplenia, Abnormal lung lobation, Cholest...	OMIM:615415
Neuroendocrine Tumor Of Stomach	Elevated hepatic transaminase, Hepatomegaly, Chronic noninfectious lymphadenopathy, Weight loss, ...	ORPHA:100075
Pearson Syndrome	Abnormality of the liver, Hypocalcemia, Neutropenia, Hepatic steatosis, Hepatomegaly, Reticulocyt...	ORPHA:699
Methemoglobinemia And Ambiguous Genitalia	Cyanosis, Methemoglobinemia	OMIM:250790
Pseudo-Torch Syndrome 2	Elevated hepatic transaminase, Hepatomegaly, Acute respiratory distress syndrome, Patent ductus a...	OMIM:617397
3-Hydroxy-3-Methylglutaryl-Coa Lyase Deficiency	Anemia, Hepatomegaly, Hyperuricemia, Hyperammonemia	OMIM:246450
Hyperekplexia 1	Aspiration, Apnea, Hypokinesia	OMIM:149400
Infection-Related Hemolytic Uremic Syndrome	Hyponatremia, Hemolytic anemia, Brain abscess, Increased circulating interleukin 6 concentration,...	ORPHA:544482
Fontaine Progeroid Syndrome	Reduced subcutaneous adipose tissue, Death in infancy, Prominent superficial veins, Prematurely a...	OMIM:612289
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 9	Respiratory distress, Death in infancy, Neonatal respiratory distress, Cyanosis, Apnea, Ataxia, H...	OMIM:618426
Multiple Acyl-Coa Dehydrogenase Deficiency	Elevated hepatic transaminase, Hepatomegaly, Acute pancreatitis, Elevated circulating creatine ki...	ORPHA:26791
X-Linked Centronuclear Myopathy	Respiratory distress, Respiratory failure requiring assisted ventilation, Recurrent respiratory i...	ORPHA:596
Adult-Onset Nemaline Myopathy	Respiratory insufficiency due to muscle weakness, Reduced vital capacity, Paraproteinemia, Mildly...	ORPHA:171442
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 1	Hepatomegaly, Failure to thrive, Anisocytosis	OMIM:604273
Incontinentia Pigmenti	Hyperkeratosis, Erythema, Pallor	OMIM:308300
Congenital Fibrinogen Deficiency	Cyanosis, Splenic rupture, Bruising susceptibility, Subcutaneous hemorrhage	ORPHA:335
Congenital Tracheomalacia	Neonatal respiratory distress, Cyanosis, Apnea, Intercostal retractions, Pneumonia, Productive co...	ORPHA:95430
Poliomyelitis	Respiratory failure requiring assisted ventilation, Anorexia, Diminished movement, Inability to w...	ORPHA:2912
Congenital-Onset Steinert Myotonic Dystrophy	Bundle branch block, First degree atrioventricular block	ORPHA:589821
Peroxisome Biogenesis Disorder 2A (Zellweger)	Intrahepatic biliary dysgenesis, Hepatomegaly, Apnea, Brushfield spots, Jaundice, Pigmentary reti...	OMIM:214110
Developmental And Epileptic Encephalopathy 28	Hypokinesia	OMIM:616211
Cryptococcosis	Respiratory distress, Osteomyelitis, Lymphoid leukemia, Pneumonia, Nodular pattern on pulmonary H...	ORPHA:1546
Combined Oxidative Phosphorylation Deficiency 19	Respiratory distress, Hepatomegaly, Elevated circulating aspartate aminotransferase concentration...	OMIM:615595
Geroderma Osteodysplastica	Redundant skin, Prematurely aged appearance, Thin skin	ORPHA:2078
Chronic Myeloid Leukemia	Splenomegaly, Leukocytosis, Abnormal granulocyte morphology, Myeloproliferative disorder, Thrombo...	ORPHA:521
Dyskeratosis Congenita	Neoplasm of the pancreas, Hepatomegaly, Recurrent respiratory infections, Hypermelanotic macule, ...	ORPHA:1775
Combined Oxidative Phosphorylation Deficiency 41	Decreased circulating cortisol level, Elevated circulating creatine kinase concentration, Anemia,...	OMIM:618838
Autosomal Dominant Cutis Laxa	Redundant neck skin, Prematurely aged appearance, Redundant skin, Cutis laxa, Premature skin wrin...	ORPHA:90348
Complement Factor B Deficiency	Peritonitis, Pneumonia, Decreased circulating complement factor B concentration	OMIM:615561
Hennekam Syndrome	Recurrent respiratory infections, Splenomegaly, Pulmonary lymphangiectasia, Respiratory insuffici...	ORPHA:2136
Renal Hypoplasia	Polydipsia, Dehydration	ORPHA:93101
Mucoepithelial Dysplasia, Hereditary	Eosinophilia, Pneumonia, Recurrent pneumonia, Chronic mucocutaneous candidiasis, Keratoconjunctiv...	OMIM:158310
Costello Syndrome	Redundant skin, Polyhydramnios, Lack of skin elasticity, Hyperkeratosis, Acanthosis nigricans	ORPHA:3071
Hereditary Orotic Aciduria	Recurrent respiratory infections, Impaired T cell function, Splenomegaly, Patent ductus arteriosu...	ORPHA:30
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome	Respiratory distress, Hepatomegaly, Failure to thrive, Superficial dermal perivascular inflammato...	ORPHA:83617
Localized Scleroderma	Thickened skin, Erythema	ORPHA:90289
Familial Chylomicronemia Syndrome	Acute pancreatitis, Pulmonary embolism, Jaundice, Hepatosplenomegaly, Recurrent pancreatitis, Hep...	ORPHA:444490
Yellow Fever	Acute pancreatitis, Neutrophilia, Skin rash, Elevated circulating aspartate aminotransferase conc...	ORPHA:99829
Cholera	Palmoplantar cutis laxa, Dehydration	ORPHA:173
Thrombocytopenia, Anemia, And Myelofibrosis	Anemia, Splenomegaly, Anisopoikilocytosis, Thrombocytopenia	OMIM:617441
Infantile Dystonia-Parkinsonism	Hypokinesia	ORPHA:238455
Cystic Fibrosis	Hepatomegaly, Reduced forced expiratory volume in one second, Reduced forced vital capacity, Recu...	OMIM:219700
Anemia, Sideroblastic, 5	Thrombocytopenia, Hypochromic microcytic anemia, Reduced hematocrit, Neutropenia, Anemia	OMIM:619523
Wiskott-Aldrich Syndrome	Sinusitis, Abnormal eosinophil morphology, Microcytic anemia, Inflammation of the large intestine...	ORPHA:906
Methylmalonic Aciduria And Homocystinuria, Cblj Type	Decreased methionine synthase activity, Tachypnea, Normochromic anemia, Neutropenia, Pulmonary ar...	OMIM:614857
Mucopolysaccharidosis, Type Ii	Hepatomegaly, Decreased iduronate sulfatase level, Abnormality of retinal pigmentation, Splenomeg...	OMIM:309900
Severe Congenital Nemaline Myopathy	Respiratory failure, Hypokinesia, Dysphagia	ORPHA:171430
Congenital Disorder Of Glycosylation, Type Iie	Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Elevated circulating...	OMIM:608779
Dyskeratosis Congenita, Autosomal Dominant 3	Premature graying of hair, Dry skin	OMIM:613990
Carnitine Palmitoyltransferase Ii Deficiency	Hepatomegaly, Neonatal respiratory distress, Elevated circulating creatine kinase concentration, ...	ORPHA:157
Autosomal Recessive Cutis Laxa Type 2, Classic Type	Redundant neck skin, Redundant skin, Abnormal subcutaneous fat tissue distribution, Prominent vei...	ORPHA:357074
Hyperoxaluria, Primary, Type I	Acrocyanosis, Cutis marmorata, Dehydration	OMIM:259900
Familial Mediterranean Fever	Acute hepatic failure, Pericarditis, Skin rash, Orchitis, Splenomegaly, Osteoarthritis, Peritonit...	ORPHA:342
Congenital Generalized Lipodystrophy	Hepatomegaly, Hypertriglyceridemia, Cirrhosis, Acanthosis nigricans, Hypercholesterolemia, Failur...	ORPHA:528
Cardiofaciocutaneous Syndrome 1	Splenomegaly, Atopic dermatitis, Hyperkeratosis, Multiple lentigines, Ichthyosis, Failure to thri...	OMIM:115150
Ciliary Dyskinesia, Primary, 35	Neonatal respiratory distress, Abdominal situs ambiguus, Productive cough, Recurrent pneumonia, B...	OMIM:617092
Laron Syndrome	Prematurely aged appearance	ORPHA:633
Septo-Optic Dysplasia Spectrum	Dry skin	ORPHA:3157
Mandibuloacral Dysplasia With Type A Lipodystrophy	Prematurely aged appearance, Thin skin, Progeroid facial appearance, Lack of skin elasticity	ORPHA:90153
3-Methylglutaconic Aciduria, Type Viib	Polyhydramnios, Dehydration	OMIM:616271
Hermansky-Pudlak Syndrome	Hypopigmentation of hair, Partial albinism, Epistaxis, Dyspnea, Thickened skin, Ocular albinism, ...	ORPHA:79430
De Barsy Syndrome	Progeroid facial appearance, Prominent veins on trunk, Cutis laxa, Excessive wrinkled skin, Thin ...	ORPHA:2962
Erythrocytosis, Familial, 6	Increased hematocrit, Polycythemia, Increased hemoglobin	OMIM:617980
Pseudoxanthoma Elasticum	Telangiectasia of the skin, Lack of skin elasticity, Excessive wrinkled skin, Bruising susceptibi...	ORPHA:758
Den Hoed-De Boer-Voisin Syndrome	Dry skin, Death in adolescence	OMIM:619229
Dysferlin-Related Limb-Girdle Muscular Dystrophy R2	Right bundle branch block, Abnormal EKG, Reduced left ventricular ejection fraction, Elevated cir...	ORPHA:268
Gallbladder Neuroendocrine Tumor	Chronic noninfectious lymphadenopathy, Biliary tract neoplasm, Extrahepatic cholestasis, Intermit...	ORPHA:100086
Diamond-Blackfan Anemia 14 With Mandibulofacial Dysostosis	Persistence of hemoglobin F, Macrocytic anemia, Increased mean corpuscular volume	OMIM:300946
Lipodystrophy, Familial Partial, Type 5	Hepatomegaly, Hypertriglyceridemia, Acanthosis nigricans, Hepatic steatosis, Increased C-peptide ...	OMIM:615238
Congenital Erythropoietic Porphyria	Recurrent bacterial skin infections, Hemolytic anemia, Reticulocytosis, Hypopigmentation of the s...	ORPHA:79277
Mitochondrial Complex Iii Deficiency, Nuclear Type 6	Dehydration	OMIM:615453
Kid Syndrome	Recurrent cutaneous abscess formation, Recurrent bacterial skin infections, Psoriasiform dermatit...	ORPHA:477
Cidec-Related Familial Partial Lipodystrophy	Hepatomegaly, Hypertriglyceridemia, Acanthosis nigricans, Hepatic steatosis, Pancreatitis	ORPHA:435651
Eisenmenger Syndrome	Elevated circulating C-reactive protein concentration, Ventricular tachycardia, Iron deficiency a...	ORPHA:97214
Trappc11-Related Limb-Girdle Muscular Dystrophy R18	Elevated hepatic transaminase, Hepatomegaly, Restrictive ventilatory defect, Abnormal circulating...	ORPHA:369840
Peroxisome Biogenesis Disorder 13A (Zellweger)	Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Conjugated hyperbili...	OMIM:614887
Cutis Laxa, Autosomal Dominant 1	Prematurely aged appearance, Redundant skin, Progeroid facial appearance, Poor wound healing, Cut...	OMIM:123700
Mucopolysaccharidosis, Type Iiib	Splenomegaly, Hepatomegaly, Recurrent upper respiratory tract infections, Cardiomegaly	OMIM:252920
Ogden Syndrome	Redundant neck skin, Prematurely aged appearance, Redundant skin, Facial wrinkling, Lymphedema, J...	OMIM:300855
Congenital Disorder Of Glycosylation, Type Ig	Respiratory distress, Decreased circulating IgG level, Small for gestational age, Patent ductus a...	OMIM:607143
Hepatoerythropoietic Porphyria	Abnormal circulating enzyme concentration or activity, Recurrent bacterial skin infections, Hemol...	ORPHA:95159
Hypotrichosis With Juvenile Macular Degeneration	Hyperkeratosis	ORPHA:1573
Juvenile Neuronal Ceroid Lipofuscinosis	Abnormal circulating enzyme concentration or activity, Apnea, Episodic tachypnea, Pigmentary reti...	ORPHA:79264
Alpha-Thalassemia-Intellectual Disability Syndrome Linked To Chromosome 16	Failure to thrive, HbH hemoglobin, Microcytic anemia	ORPHA:98791
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly	Hepatomegaly, Thyroid lymphangiectasia, Splenomegaly, Pancreatic lymphangiectasis, Pulmonary lymp...	OMIM:235255
Acquired Generalized Lipodystrophy	Hepatomegaly, Acute pancreatitis, Hypertriglyceridemia, Generalized hyperpigmentation, Abnormalit...	ORPHA:79086
Ectodermal Dysplasia 1, Hypohidrotic, X-Linked	Periorbital wrinkles, Dry skin, Hypohidrotic ectodermal dysplasia, Thin skin	OMIM:305100
Typical Nemaline Myopathy	Waddling gait, Respiratory insufficiency, Gait disturbance, Nocturnal hypoventilation, Hypokinesia	ORPHA:171436
Leukocyte Adhesion Deficiency Type Ii	Hepatomegaly, Neutrophilia, Severe periodontitis, Small for gestational age, Microcytic anemia, K...	ORPHA:99843
Hypopigmentation, Organomegaly, And Delayed Myelination And Development	Hepatomegaly, Hypopigmentation of hair, Splenomegaly, Cafe-au-lait spot, Hypopigmentation of the ...	OMIM:618541
Ablepharon Macrostomia Syndrome	Excessive wrinkled skin, Redundant skin, Dry skin, Thin skin	ORPHA:920
Thrombocytopenia 5	Epistaxis, B Acute Lymphoblastic Leukemia, Anemia, Increased mean corpuscular volume, Neutropenia...	OMIM:616216
Chronic Graft Versus Host Disease	Anorexia, Poor wound healing, Thickened skin, Erythema, Xerostomia, Skin ulcer, Pleural effusion,...	ORPHA:99921
Rothmund-Thomson Syndrome	Calcinosis, Plantar hyperkeratosis, Porokeratosis, Aplastic anemia, Skin rash, Small for gestatio...	ORPHA:2909
9P13 Microdeletion Syndrome	Dry skin	ORPHA:324313
Bronchogenic Cyst	Abnormal peritoneum morphology, Pulmonary cyst, Pneumonia, Abnormal pleura morphology, Atelectasi...	ORPHA:2357
Myasthenic Syndrome, Congenital, 21, Presynaptic	Difficulty walking, Cyanosis, Apnea, Respiratory insufficiency	OMIM:617239
Cranioectodermal Dysplasia 3	Ectodermal dysplasia, Dry skin, Cutis laxa	OMIM:614099
Phosphoserine Aminotransferase Deficiency, Infantile/Juvenile Form	Cyanotic episode	ORPHA:284417
Familial Papillary Or Follicular Thyroid Carcinoma	Chronic noninfectious lymphadenopathy, Chronic lung disease, Abnormal lymph node morphology	ORPHA:319487
Mounier-Kühn Syndrome	Recurrent respiratory infections, Recurrent bronchopulmonary infections, Pneumonia, Bronchitis	ORPHA:3347
Nephroblastoma	Neoplasm of the lung, Neoplasm of the liver, Lymphadenopathy, Weight loss	ORPHA:654
Familial Papillary Thyroid Carcinoma With Renal Papillary Neoplasia	Chronic noninfectious lymphadenopathy, Chronic lung disease, Abnormal lymph node morphology	ORPHA:97290
Myopathy, Centronuclear, X-Linked	Respiratory failure requiring assisted ventilation, Neonatal respiratory distress, Hypokinesia	OMIM:310400
Adrenal Hypoplasia, Congenital	Dehydration	OMIM:300200
Koolen-De Vries Syndrome	Dry skin	ORPHA:96169
Cockayne Syndrome Type 1	Elevated hepatic transaminase, Hepatomegaly, Hypermelanotic macule, Uveitis, Pigmentary retinopat...	ORPHA:90321
Kindler Epidermolysis Bullosa	Erythema, Hyperkeratosis, Palmoplantar keratoderma, Dysphagia, Cutaneous photosensitivity	ORPHA:2908
Microcephaly, Cerebellar Hypoplasia, And Cardiac Conduction Defect Syndrome	Acrocyanosis, Truncal ataxia	OMIM:614407
Osteopetrosis With Renal Tubular Acidosis	Hepatomegaly, Abnormal circulating enzyme concentration or activity, Pancytopenia, Elevated circu...	ORPHA:2785
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease	Neonatal death, Dehydration, Oligohydramnios	OMIM:263200
Linear Verrucous Nevus Syndrome	Hyperkeratosis, Hypophosphatemia	ORPHA:2611
Naegeli-Franceschetti-Jadassohn Syndrome	Dry skin	ORPHA:69087
Hoyeraal-Hreidarsson Syndrome	Premature graying of hair, Excessive wrinkled skin	ORPHA:3322
Scleromyxedema	Aged leonine appearance, Thickened skin, Dysphagia, Generalized abnormality of skin, Sclerodactyly	ORPHA:167635
Rothmund-Thomson Syndrome Type 2	Plantar hyperkeratosis, Porokeratosis, Facial edema, Erythema, Facial erythema	ORPHA:221016
Chime Syndrome	Hyperkeratosis, Erythema, Skin ulcer, Ichthyosis	ORPHA:3474
Oculopharyngodistal Myopathy	Respiratory insufficiency due to muscle weakness, Restrictive ventilatory defect, Recurrent aspir...	ORPHA:98897
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form	Hepatomegaly, Neonatal respiratory distress, Elevated circulating creatine kinase concentration, ...	ORPHA:228308
Premature Aging Syndrome, Penttinen Type	Prominent superficial veins, Prematurely aged appearance, Thickened skin, Palmoplantar hyperkerat...	OMIM:601812
Hyperzincemia With Functional Zinc Depletion	Hepatomegaly, Increased serum zinc, Skin rash	OMIM:601979
Dermatomyositis	Telangiectasia of the skin, Edema, Periorbital edema, Erythema, Skin ulcer, Dry skin, Acrocyanosi...	ORPHA:221
Microvillus Inclusion Disease	Dehydration	ORPHA:2290
Carnitine Palmitoyl Transferase 1A Deficiency	Elevated hepatic transaminase, Hepatomegaly, Hepatic failure, Transient hyperlipidemia	ORPHA:156
Glucose-Galactose Malabsorption	Dehydration	ORPHA:35710
Opitz-Kaveggia Syndrome	Facial wrinkling, Attention deficit hyperactivity disorder	OMIM:305450
Coach Syndrome 1	Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Splenomegaly, Abnormal abdomen ...	OMIM:216360
Chronic Actinic Dermatitis	Late onset atopic dermatitis, Progressive hyperpigmentation, Eczema, Allergic rhinitis, Pruritus,...	ORPHA:330064
Fucosidosis	Bruising susceptibility, Dry skin, Angiokeratoma, Petechiae	OMIM:230000
Elliptocytosis 1	Splenomegaly, Hemolytic anemia, Jaundice, Elliptocytosis	OMIM:611804
Lipodystrophy, Generalized, With Mental Retardation, Deafness, Short Stature, And Slender Bones	Progeroid facial appearance	OMIM:608154
Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic	Cyanosis, Apnea	OMIM:261680
Familial Renal Glucosuria	Dehydration	ORPHA:69076
Autosomal Recessive Polycystic Kidney Disease	Cholangitis, Biliary hyperplasia, Abnormal intrahepatic bile duct morphology, Hepatic fibrosis, E...	ORPHA:731
Yao Syndrome	Inflammatory abnormality of the skin, Pericarditis, Skin rash, Asthma, Weight loss, Arthritis, Ke...	OMIM:617321
Congenital Disorder Of Glycosylation, Type Iiw	Elevated hepatic transaminase, Hepatomegaly, Membranoproliferative glomerulonephritis, Elevated c...	OMIM:619525
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum	Elevated hepatic transaminase, Anterior uveitis, Inflammatory abnormality of the skin, Respirator...	ORPHA:95455
Campomelia, Cumming Type	Oligohydramnios, Prematurely aged appearance, Hydrops fetalis, Lymphedema	ORPHA:1318
Pachyonychia Congenita	Respiratory distress, Angular cheilitis, Linear arrays of macular hyperkeratoses in flexural area...	ORPHA:2309
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome	Decreased circulating IgG level, Hepatomegaly, Decreased proportion of CD8-positive T cells, Recu...	ORPHA:508533
Ichthyosis, Congenital, Autosomal Recessive 11	Pruritus, Hyperkeratosis, Congenital ichthyosiform erythroderma, Blepharitis	OMIM:602400
Mpdu1-Cdg	Abnormal circulating enzyme concentration or activity, Eczema, Elevated circulating creatine kina...	ORPHA:79323
X-Linked Immunoneurologic Disorder	Recurrent respiratory infections, Decreased circulating IgG2 level, Abnormal pleura morphology	ORPHA:2571
Fabry Disease	Conjunctival telangiectasia, Bundle branch block, Angina pectoris, Transient ischemic attack, Tel...	ORPHA:324
Lipodystrophy, Congenital Generalized, Type 2	Elevated hepatic transaminase, Hepatomegaly, Acute pancreatitis, Hypertriglyceridemia, Elevated h...	OMIM:269700
Hurler-Scheie Syndrome	Hepatomegaly, Recurrent respiratory infections, Splenomegaly, Thickened skin, Pulmonary arterial ...	OMIM:607015
Pulmonary Alveolar Microlithiasis	Bronchitis, Nonproductive cough, Tachypnea, Increased circulating surfactant protein level, Oxyge...	ORPHA:60025
Fanconi-Bickel Syndrome	Hepatomegaly, Failure to thrive, Hypertriglyceridemia, Elevated circulating aspartate aminotransf...	ORPHA:2088
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy	Astrocytosis	ORPHA:258
Reactive Arthritis	Pericarditis, Osteomyelitis, Abnormal pleura morphology, Pustule, Respiratory insufficiency, Enth...	ORPHA:29207
Congenital Tufting Enteropathy	Dehydration	ORPHA:92050
Diarrhea 1, Secretory Chloride, Congenital	Polyhydramnios, Dehydration	OMIM:214700
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Intermediate Form	Failure to thrive, Recurrent skin infections, Decreased serum iron, Anemia, Decreased serum zinc,...	ORPHA:89842
Scheie Syndrome	Splenomegaly, Hepatomegaly, Rhinitis	ORPHA:93474
Mgat2-Cdg	Impaired lymphocyte transformation with phytohemagglutinin, Respiratory distress, Decreased circu...	ORPHA:79329
Pediatric Hepatocellular Carcinoma	Hepatomegaly, Elevated circulating alpha-fetoprotein concentration, Portal vein thrombosis, Hepat...	ORPHA:33402
Mucopolysaccharidosis, Type Vi	Hepatomegaly, Pneumonia, Reduced leukocyte arylsulfatase B activity, Splenomegaly, Thickened skin...	OMIM:253200
Trichothiodystrophy 5, Nonphotosensitive	Cutaneous photosensitivity, Cutis marmorata, Progeroid facial appearance	OMIM:300953
Antisynthetase Syndrome	Recurrent respiratory infections, Myositis, Skin rash, Elevated circulating creatine kinase conce...	ORPHA:81
Rothmund-Thomson Syndrome Type 1	Plantar hyperkeratosis, Porokeratosis, Facial edema, Facial erythema, Telangiectasia, Attention d...	ORPHA:221008
Medullary Thyroid Carcinoma	Neoplasm of the lung, Weight loss, Lymphadenopathy, Abnormal liver parenchyma morphology	ORPHA:1332
Fucosidosis	Hepatomegaly, Cardiomegaly, Abnormality of the gallbladder, Failure to thrive, Generalized hyperk...	ORPHA:349
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome	Hepatomegaly, Splenomegaly, Pancreatic lymphangiectasis, Pulmonary lymphangiectasia, Hepatospleno...	ORPHA:1655
Hypermanganesemia With Dystonia 2	Inability to walk, Scissor gait, Tip-toe gait, Gait disturbance, Hypokinesia	OMIM:617013
Wiedemann-Rautenstrauch Syndrome	Reduced subcutaneous adipose tissue, Prominent scalp veins, Prematurely aged appearance, Thin ski...	OMIM:264090
Classic Homocystinuria	Elevated hepatic transaminase, Hepatomegaly, Gastrointestinal hemorrhage, Pulmonary embolism, Int...	ORPHA:394
Dubin-Johnson Syndrome	Hepatomegaly, Conjugated hyperbilirubinemia, Jaundice, Biliary tract abnormality, Abnormality of ...	ORPHA:234
Erythrocytosis, Familial, 7	Increased hematocrit, Polycythemia	OMIM:617981
Shwachman-Diamond Syndrome 2	Normocytic anemia, Hepatomegaly, Failure to thrive, Steatorrhea, Neutropenia, Hyperechogenic panc...	OMIM:617941
Pauci-Immune Glomerulonephritis	Glomerulonephritis, Dyspnea, Elevated circulating creatinine concentration, Crescentic glomerulon...	ORPHA:93126
Arthrogryposis And Ectodermal Dysplasia	Ectodermal dysplasia, Dry skin	OMIM:601701
Neutral Lipid Storage Myopathy	Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Chronic pancreatitis, Obesity,...	ORPHA:98908
Ectodermal Dysplasia-Blindness Syndrome	Hyperkeratosis, Skin ulcer	ORPHA:1806
Overlap Myositis	Elevated hepatic transaminase, Raynaud phenomenon, Leukopenia, Hypertension, Pulmonary arterial h...	ORPHA:206572
Focal Dermal Hypoplasia	Erythema, Telangiectasia of the skin, Thin skin	ORPHA:2092
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency	Hyponatremia, Decreased circulating cortisol level, Pneumonia, Jaundice, Hyperkalemia, Failure to...	ORPHA:90790
Helix Syndrome	Dry skin	OMIM:617671
Chikungunya	Facial edema, Erythema, Pedal edema, Joint swelling, Skin vesicle, Cutaneous photosensitivity, Pe...	ORPHA:324625
Nephrogenic Diabetes Insipidus	Hypernatremic dehydration, Polydipsia, Polyhydramnios, Anorexia	ORPHA:223
Familial Tumoral Calcinosis	Erythema	ORPHA:53715
Pyruvate Carboxylase Deficiency	Anorexia, Dehydration, Abnormal temper tantrums, Compulsive behaviors, Recurrent hand flapping	ORPHA:3008
Growth Hormone Insensitivity Syndrome With Immune Dysregulation 2, Autosomal Dominant	Increased circulating IgE level, Eczema, Thyroiditis	OMIM:618985
C3 Glomerulopathy	Membranoproliferative glomerulonephritis, Paraproteinemia, Elevated circulating creatinine concen...	ORPHA:329918
Pancreatoblastoma	Elevated maternal serum alpha-fetoprotein, Jaundice, Abnormal lymph node morphology, Weight loss,...	ORPHA:677
Nestor-Guillermo Progeria Syndrome	Prominent superficial veins, Dry skin, Progeroid facial appearance	OMIM:614008
Behçet Disease	Increased inflammatory response, Myositis, Pericarditis, Acne, Pulmonary embolism, Orchitis, Retr...	ORPHA:117
Rajab Interstitial Lung Disease With Brain Calcifications 1	Tachypnea, Hypoalbuminemia, Hypocalcemia, Cough, Emphysema, Hepatic steatosis, Portal hypertensio...	OMIM:613658
Immunodeficiency 67	Liver abscess, Transient neutropenia, Increased circulating IgE level	OMIM:607676
Oligomeganephronia	Polydipsia, Dehydration	ORPHA:2260
Carnitine-Acylcarnitine Translocase Deficiency	Elevated hepatic transaminase, Hepatomegaly, Sudden episodic apnea, Elevated circulating acylcarn...	ORPHA:159
Cerebellar Ataxia, Brain Abnormalities, And Cardiac Conduction Defects	Right bundle branch block, Mitral regurgitation, Tricuspid regurgitation	OMIM:619576
Alpha-2-Plasmin Inhibitor Deficiency	Joint hemorrhage, Hemothorax	OMIM:262850
Peroxisome Biogenesis Disorder 5A (Zellweger)	Intrahepatic biliary dysgenesis, Hepatomegaly, Small for gestational age, Elevated circulating as...	OMIM:614866
Histiocytoid Cardiomyopathy	Wolff-Parkinson-White syndrome, Atrial flutter, Tachycardia, Atrial fibrillation, Junctional ecto...	ORPHA:137675
Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease	Hepatomegaly, Elevated circulating alpha-fetoprotein concentration, Jaundice, Elevated circulatin...	OMIM:613095
Ulnar Agenesis And Endocardial Fibroelastosis	Neonatal death	OMIM:276822
Immunodeficiency 27B	Generalized lymphadenopathy, Osteomyelitis, Salmonella osteomyelitis	OMIM:615978
Thymic Neuroendocrine Tumor	Pancreatic islet cell adenoma, Hypercalcemia, Chronic noninfectious lymphadenopathy, Neoplasm of ...	ORPHA:97289
Inflammatory Bowel Disease 28, Autosomal Recessive	Perianal abscess, Enterocolitis, Folliculitis, Pyoderma, Colitis, Crohn's disease	OMIM:613148
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type)	Acute hepatic failure, Hepatomegaly, Failure to thrive, Respiratory distress, Elevated circulatin...	OMIM:256810
Dysbetalipoproteinemia	Hepatomegaly, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Acute pancreatitis, ...	ORPHA:412
Dyskeratosis Congenita, Digenic	Decreased circulating IgG level, Abnormality of skin pigmentation, Decreased circulating total Ig...	OMIM:620040
Erythema Elevatum Diutinum	Skin rash, Increased circulating antibody level	ORPHA:90000
Ileal Neuroendocrine Tumor	Elevated hepatic transaminase, Extrahepatic cholestasis, Weight loss, Lymphadenopathy, Iron defic...	ORPHA:100078
Anaplastic Thyroid Carcinoma	Respiratory distress, Dyspnea, Upper airway obstruction, Weight loss, Stridor, Neoplasm of the lu...	ORPHA:142
Fructose-1,6-Bisphosphatase Deficiency	Elevated hepatic transaminase, Hepatomegaly, Abnormal circulating enzyme concentration or activit...	ORPHA:348
Degcags Syndrome	Abnormality of skin pigmentation, Leukopenia, Iron deficiency anemia, Premature graying of hair, ...	OMIM:619488
Cockayne Syndrome Type 3	Elevated hepatic transaminase, Astrocytosis	ORPHA:90324
Trichothiodystrophy	Cutaneous photosensitivity, Dry skin, Prematurely aged appearance	ORPHA:33364
Congenital Analbuminemia	Small for gestational age, Hyperlipidemia, Obesity, Increased alpha-globulin, Hypoalbuminemia, In...	ORPHA:86816
Dend Syndrome	Dehydration	ORPHA:79134
Idiopathic Steroid-Resistant Nephrotic Syndrome	Peritonitis, Pulmonary embolism	ORPHA:567548
Microcephalic Osteodysplastic Primordial Dwarfism Type Ii	Dry skin	ORPHA:2637
21Q22.11Q22.12 Microdeletion Syndrome	Dry skin	ORPHA:261323
Monilethrix	Perifollicular hyperkeratosis	OMIM:158000
Behcet Syndrome	Erythema	OMIM:109650
Carnitine-Acylcarnitine Translocase Deficiency	Elevated hepatic transaminase, Hepatomegaly, Elevated circulating creatine kinase concentration, ...	OMIM:212138
Idiopathic Aplastic Anemia	Pancytopenia, Epistaxis, Reticulocytopenia, Anemia, Bone marrow hypocellularity, Neutropenia, Thr...	ORPHA:88
Gm1 Gangliosidosis Type 1	Thickened skin, Decreased beta-galactosidase activity, Aspiration pneumonia, Hepatosplenomegaly	ORPHA:79255
Congenitally Uncorrected Transposition Of The Great Arteries	Hypoxemia, Cyanosis, Tachypnea	ORPHA:860
Joubert Syndrome With Hepatic Defect	Elevated hepatic transaminase, Hepatomegaly, Apnea, Portal hypertension, Abnormal pattern of resp...	ORPHA:1454
Oculoskeletodental Syndrome	Hepatomegaly, Small for gestational age, Hypercalcemia, Splenomegaly, Hypocalcemia	OMIM:618440
Tay-Sachs Disease	Abnormal circulating enzyme concentration or activity, Increased serum beta-hexosaminidase, Aspir...	ORPHA:845
Ectodermal Dysplasia 12, Hypohidrotic/Hair/Tooth/Nail Type	Orthokeratosis, Subungual hyperkeratosis, Eczema, Acne inversa	OMIM:617337
Cockayne Syndrome B	Reduced subcutaneous adipose tissue, Prematurely aged appearance, Progeroid facial appearance, Dr...	OMIM:133540
Telangiectasia, Hereditary Hemorrhagic, Type 1	Conjunctival telangiectasia, Tongue telangiectasia, Polycythemia, Palate telangiectasia, High-out...	OMIM:187300
Ethylene Glycol Poisoning	Cyanosis, Ataxia, Tachypnea, Episodic respiratory distress, Addictive alcohol use, Abnormal patte...	ORPHA:31826
Geleophysic Dysplasia 3	Hepatomegaly, Pneumonia, Dyspnea, Thickened skin, Respiratory failure	OMIM:617809
Koolen-De Vries Syndrome	Dry skin	OMIM:610443
Glycogen Storage Disease Ic	Hepatomegaly, Stomatitis, Cyclic neutropenia, Chronic pancreatitis, Hyperlipidemia, Recurrent upp...	OMIM:232240
Monilethrix	Follicular hyperkeratosis	ORPHA:573
Severe Acute Respiratory Syndrome	Respiratory distress, Respiratory failure requiring assisted ventilation, Dyspnea, Acute infectio...	ORPHA:140896
Lipe-Related Familial Partial Lipodystrophy	Hepatomegaly, Hypertriglyceridemia, Elevated circulating creatine kinase concentration, Acanthosi...	ORPHA:435660
Criss-Cross Heart	Cyanosis, Respiratory insufficiency	ORPHA:1461
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy	Hepatomegaly, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Splenomegaly, Premat...	ORPHA:280365
Pachyonychia Congenita 3	Plantar hyperkeratosis, Palmoplantar keratoderma, Follicular hyperkeratosis, Palmar hyperkeratosis	OMIM:615726
Mitochondrial Complex Ii Deficiency, Nuclear Type 3	Left ventricular hypertrophy, Hepatomegaly, Neonatal death, Aspiration pneumonia	OMIM:619167
Cockayne Syndrome	Reduced subcutaneous adipose tissue, Premature skin wrinkling, Cutaneous photosensitivity	ORPHA:191
Congenital Tricuspid Valve Dysplasia	Respiratory failure requiring assisted ventilation, Cyanosis, Tachypnea, Hypoxemia, Respiratory f...	ORPHA:555874
Kaufman Oculocerebrofacial Syndrome	Neonatal respiratory distress, Failure to thrive, Hypocholesterolemia	OMIM:244450
Spinocerebellar Ataxia 34	Epidermal hyperkeratosis, Erythroderma	OMIM:133190
Kasabach-Merritt Syndrome	Respiratory distress, Reticulocytosis, Thrombocytopenia, Abnormal lymphatic vessel morphology, Hy...	ORPHA:2330
Short Syndrome	Excessive wrinkled skin	ORPHA:3163
Linear Skin Defects With Multiple Congenital Anomalies 2	Pulmonary arterial hypertension	OMIM:300887
Thyroid Lymphoma	Respiratory distress, Dyspnea, Upper airway obstruction, Lymphadenopathy, Stridor, Hashimoto thyr...	ORPHA:97285
Paroxysmal Nocturnal Hemoglobinuria	Hemolytic anemia, Reticulocytosis, Pancytopenia, Myocardial infarction, Pulmonary embolism, Abnor...	ORPHA:447
Rabson-Mendenhall Syndrome	Premature graying of hair, Dry skin, Reduced subcutaneous adipose tissue	ORPHA:769
Noonan Syndrome 10	Increased nuchal translucency, Hyperkeratosis, Webbed neck, Palmoplantar cutis laxa, Pleural effu...	OMIM:616564
Neuroendocrine Tumor Of The Rectum	Elevated hepatic transaminase, Hepatomegaly, Chronic noninfectious lymphadenopathy, Weight loss, ...	ORPHA:100081
Neuroendocrine Tumor Of Anal Canal	Elevated hepatic transaminase, Hepatomegaly, Chronic noninfectious lymphadenopathy, Weight loss, ...	ORPHA:100082
Tetrasomy 5P	Respiratory distress, Pulmonary arterial hypertension, Cyanosis	ORPHA:3309
Diamond-Blackfan Anemia 3	Persistence of hemoglobin F, Macrocytic anemia, Increased mean corpuscular volume, Reticulocytopenia	OMIM:610629
Mitochondrial Complex Iv Deficiency, Nuclear Type 15	Pulmonary arterial hypertension	OMIM:619059
Wiedemann-Rautenstrauch Syndrome	Reduced subcutaneous adipose tissue, Prominent scalp veins, Increased subcutaneous truncal adipos...	ORPHA:3455
Pyruvate Dehydrogenase E1-Alpha Deficiency	Increased serum pyruvate, Neonatal respiratory distress, Recurrent aspiration pneumonia, Small fo...	ORPHA:79243
Holocarboxylase Synthetase Deficiency	Skin rash, Tachypnea, Hyperammonemia, Thrombocytopenia, Hyperventilation	OMIM:253270
Cryohydrocytosis	Splenomegaly, Hemolytic anemia, Stomatocytosis, Reticulocytosis	OMIM:185020
Neurodevelopmental Disorder With Dysmorphic Facies And Cerebellar Hypoplasia	Dry skin	OMIM:619306
Hereditary Mucoepithelial Dysplasia	Hyperkeratosis, Recurrent respiratory infections, Pulmonary fibrosis	ORPHA:1839
Intellectual Developmental Disorder, X-Linked, Syndromic, Chudley-Schwartz Type	Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level	OMIM:300861
Niemann-Pick Disease Type C	Hepatomegaly, Bone-marrow foam cells, Fetal ascites, Low cholesterol esterification rate, Splenom...	ORPHA:646
Chops Syndrome	Splenomegaly, Patent ductus arteriosus, Obesity, Anomalous pulmonary venous return, Aspiration pn...	OMIM:616368
Anemia, Congenital Dyserythropoietic, Type Iiia	Macrocytic anemia, Anemia of inadequate production, Congenital hypoplastic anemia, Jaundice, Incr...	OMIM:105600
Methylmalonic Acidemia With Homocystinuria, Type Cblc	Jaundice, Hydrops fetalis, Dehydration	ORPHA:79282
Mandibuloacral Dysplasia With Type B Lipodystrophy	Prematurely aged appearance, Thin skin, Progeroid facial appearance	ORPHA:90154
Waardenburg Syndrome Type 3	Tracheomalacia, Acrocyanosis	ORPHA:896
Somatostatinoma	Neoplasm of the pancreas, Hepatomegaly, Hypercalcemia, Intrahepatic cholestasis, Abnormal abdomen...	ORPHA:97283
Telangiectasia, Hereditary Hemorrhagic, Type 2	Conjunctival telangiectasia, Tongue telangiectasia, Polycythemia, Palate telangiectasia, Fingerpa...	OMIM:600376
Fanconi-Bickel Syndrome	Hepatomegaly, Hypouricemia, Elevated circulating aspartate aminotransferase concentration, Intrah...	OMIM:227810
Schimke Immuno-Osseous Dysplasia	Transient ischemic attack, Thrombocytopenia, Congestive heart failure, Hypertension, Decreased pr...	ORPHA:1830
Cardiomyopathy, Dilated, 1S	Tricuspid regurgitation, Sudden cardiac death, Congestive heart failure, Dilated cardiomyopathy, ...	OMIM:613426
Igg4-Related Retroperitoneal Fibrosis	Normocytic anemia, Psoriasiform dermatitis, Deep dermal perivascular inflammatory infiltrate, Ele...	ORPHA:49041
Lipodystrophy, Congenital Generalized, Type 1	Elevated hepatic transaminase, Hepatomegaly, Acute pancreatitis, Hypertriglyceridemia, Splenomega...	OMIM:608594
Immune Deficiency, Familial Variable	Decreased circulating IgG level, Decreased circulating IgA level	OMIM:146830
Diamond-Blackfan Anemia	Acute myeloid leukemia, Small for gestational age, Pure red cell aplasia, Erythroid hypoplasia, R...	ORPHA:124
Ifap Syndrome 1, With Or Without Bresheck Syndrome	Ichthyosis follicularis, Subungual hyperkeratosis, Perianal erythema, Hyperkeratosis, Ectodermal ...	OMIM:308205
Squamous Cell Carcinoma Of The Anal Canal	Neoplasm of the lung, Neoplasm of the liver, Lymphadenopathy	ORPHA:424019
Bethlem Myopathy	Hyperkeratosis, Hypoventilation, Reduced maximal expiratory pressure, Elevated circulating creati...	ORPHA:610
Sheehan Syndrome	Dry skin, Pallor	ORPHA:91355
Isolated Thyroid-Stimulating Hormone Deficiency	Dry skin, Prolonged neonatal jaundice	ORPHA:90674
Acrocephalopolydactylous Dysplasia	Hepatomegaly, Pancreatic fibrosis, Thickened skin, Hepatic fibrosis, Pulmonary hypoplasia, Polysp...	OMIM:200995
Severe Generalized Junctional Epidermolysis Bullosa	Respiratory distress, Recurrent skin infections, Pneumonia, Dyspnea, Pneumothorax, Abnormal blood...	ORPHA:79404
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency	Dehydration	ORPHA:90791
Alström Syndrome	Respiratory distress, Hepatic fibrosis, Elevated gamma-glutamyltransferase level, Otitis media, A...	ORPHA:64
Akt2-Related Familial Partial Lipodystrophy	Acanthosis nigricans, Hepatomegaly, Hypertriglyceridemia, Hepatic steatosis	ORPHA:79085
Erdheim-Chester Disease	Osteomyelitis, Skin rash, Retroperitoneal fibrosis, Dyspnea, Abnormal pulmonary interstitial morp...	ORPHA:35687
Immunodeficiency 35	Recurrent respiratory infections, Increased circulating IgE level	OMIM:611521
Dubowitz Syndrome	Cutaneous photosensitivity, Dry skin, Cutis marmorata	ORPHA:235
Leprechaunism	Hepatomegaly, Enlarged ovaries, Thickened skin, Hyperkeratosis, Hypokalemia, Hyperaldosteronism, ...	ORPHA:508
Esophageal Atresia	Respiratory distress, Cyanosis, Episodic respiratory distress, Chronic pulmonary obstruction, Asp...	ORPHA:1199
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3	Elevated circulating creatinine concentration, Anemia, Decreased circulating complement C3 concen...	OMIM:612923
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2	Elevated circulating creatinine concentration, Anemia, Decreased circulating complement C3 concen...	OMIM:612922
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6	Elevated circulating creatinine concentration, Anemia, Decreased circulating complement C3 concen...	OMIM:612926
Oculocerebrorenal Syndrome Of Lowe	Dehydration, Skin ulcer, Self-injurious behavior, Joint swelling, Compulsive behaviors, Attention...	ORPHA:534
Mitochondrial Complex Iv Deficiency, Nuclear Type 7	Pulmonary arterial hypertension, Hypertrophic cardiomyopathy, Tricuspid regurgitation	OMIM:619051
Neuropathy, Hereditary Sensory And Autonomic, Type Vi	Erythema	OMIM:614653
Cockayne Syndrome A	Reduced subcutaneous adipose tissue, Prematurely aged appearance, Progeroid facial appearance, Dr...	OMIM:216400
Urachal Cyst	Erythema	ORPHA:488
Amoebiasis Due To Free-Living Amoebae	Myocardial necrosis, Unusual skin infection, Sinusitis, Pneumonia, Pustule, Respiratory tract inf...	ORPHA:68
Glycogen Storage Disease Ia	Elevated hepatic transaminase, Hepatomegaly, Hyperlipidemia, Gout, Xanthelasma, Hyperuricemia, He...	OMIM:232200
Hallermann-Streiff Syndrome	Dry skin, Telangiectasia	OMIM:234100
Lassa Fever	Dyspnea, Jaundice, Increased circulating IgM level, Conjunctivitis, Cough	ORPHA:99824
Lathosterolosis	Hepatomegaly, Failure to thrive, Intrahepatic cholestasis, Anisopoikilocytosis, Abnormal platelet...	ORPHA:46059
Dopamine Beta-Hydroxylase Deficiency	Dehydration	ORPHA:230
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies	Reduced subcutaneous adipose tissue, Impulsivity, Fetal ascites, Erythema, Dysphagia, Facial eryt...	OMIM:619503
Gastrointestinal Stromal Tumor	Abnormality of the liver, Skin rash, Irregular hyperpigmentation, Anemia	ORPHA:44890
Infantile Nephropathic Cystinosis	Polydipsia, Dehydration	ORPHA:411629
Fallot Complex-Intellectual Disability-Growth Delay Syndrome	Cyanosis	ORPHA:3304
Hutchinson-Gilford Progeria Syndrome	Prominent superficial blood vessels, Cyanosis, Lack of skin elasticity, Premature skin wrinkling,...	ORPHA:740
Schimke Immunoosseous Dysplasia	Pancytopenia, Transient ischemic attack, Dyspnea, Abnormal T cell morphology, Anemia, Hypertensio...	OMIM:242900
Hereditary Bullous Dystrophy, Macular Type	Acrocyanosis, Pneumonia	ORPHA:1867
Melas	Erythema	ORPHA:550
Autoerythrocyte Sensitization Syndrome	Superficial dermal perivascular inflammatory infiltrate, Epistaxis, Autoimmune thrombocytopenia, ...	ORPHA:324636
Hypertrophic Osteoarthropathy, Primary, Autosomal Recessive, 2	Thickened skin, Hypoalbuminemia, Acne, Seborrheic dermatitis	OMIM:614441
Tyrosinemia Type 2	Hyperkeratosis, Palmoplantar keratoderma	ORPHA:28378
Mitochondrial Complex I Deficiency, Nuclear Type 1	Death in infancy, Cyanosis, Apnea, Ataxia, Splenomegaly, Respiratory insufficiency, Respiratory f...	OMIM:252010
Japanese Encephalitis	Hyponatremia, Respiratory distress, Neutrophilia, Pulmonary edema, Increased circulating IgM leve...	ORPHA:79139
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young	Elevated hepatic transaminase, Hepatomegaly, Hypouricemia, Large for gestational age, Elevated ci...	OMIM:616026
Myoectodermal Gonadal Dysgenesis Syndrome	Dry skin, Scaling skin	OMIM:618419
Alpha-Thalassemia	Reduced alpha/beta synthesis ratio, Hypochromic microcytic anemia	OMIM:604131
Beta-Thalassemia	Reduced beta/alpha synthesis ratio, Hypochromic microcytic anemia	OMIM:613985
Autosomal Recessive Cerebellar Ataxia Due To Stub1 Deficiency	Progeroid facial appearance, Dysphagia	ORPHA:412057
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Dominant	Recurrent bacterial skin infections, Keratitis, Hyperkeratosis, Keratoconjunctivitis sicca, Ichth...	OMIM:148210
Ectodermal Dysplasia And Immunodeficiency 2	Anhidrotic ectodermal dysplasia, Dry skin	OMIM:612132
Say-Barber-Miller Syndrome	Eczema, Erythema nodosum, Transient hypogammaglobulinemia of infancy, Abnormal T cell morphology,...	ORPHA:3132
Double Outlet Right Ventricle	Cyanosis, Tachypnea	ORPHA:3426
Ectodermal Dysplasia 10B, Hypohidrotic/Hair/Tooth Type, Autosomal Recessive	Hypohidrotic ectodermal dysplasia, Periorbital wrinkles	OMIM:224900
Ramon Syndrome	Hyperkeratosis, Angiokeratoma, Telangiectasia	OMIM:266270
Transketolase Deficiency	Hepatomegaly, Seborrheic dermatitis, Patent ductus arteriosus, Uveitis, Conjunctivitis, Elevated ...	ORPHA:488618
Alpha-Mannosidosis, Infantile Form	Abnormal circulating enzyme concentration or activity, Pancytopenia, Pneumonia, Hepatosplenomegal...	ORPHA:309282
Congenital Alveolar Capillary Dysplasia	Respiratory distress, Absent gallbladder, Asplenia, Aortic valve stenosis, Pulmonary arterial hyp...	ORPHA:210122
48,Xxxy Syndrome	Asthma, Pulmonary embolism	ORPHA:96263
Classic Pantothenate Kinase-Associated Neurodegeneration	Cough, Pigmentary retinopathy, Aspiration pneumonia, Weight loss	ORPHA:216866
Noonan Syndrome With Multiple Lentigines	Excessive wrinkled skin, Webbed neck	ORPHA:500
Autosomal Dominant Hypocalcemia	Dry skin	ORPHA:428
Intellectual Disability-Severe Speech Delay-Mild Dysmorphism Syndrome	Pulmonary arterial hypertension	ORPHA:391372
Intellectual Developmental Disorder, Autosomal Dominant 54	Dry skin	OMIM:617799
Braddock Syndrome	Pulmonary arterial hypertension, Neonatal respiratory distress	ORPHA:52047
Intellectual Developmental Disorder With Persistence Of Fetal Hemoglobin	Persistence of hemoglobin F	OMIM:617101
Dementia, Lewy Body	Lewy bodies	OMIM:127750
Mandibuloacral Dysplasia With Type B Lipodystrophy	Death in early adulthood, Prominent superficial veins, Decreased adipose tissue around neck, Prog...	OMIM:608612
Leprosy	Epistaxis, Abnormality of the spleen, Uveitis, Hyperkeratosis, Abnormality of the liver, Iritis	ORPHA:548
Hidrotic Ectodermal Dysplasia, Halal Type	Follicular hyperkeratosis	ORPHA:1809
49,Xxxxy Syndrome	Asthma, Pulmonary embolism	ORPHA:96264
Ossification Anomalies-Psychomotor Developmental Delay Syndrome	Elevated hepatic transaminase, Hepatomegaly, Hepatic hemangioma, Recurrent aspiration pneumonia	ORPHA:73230
Digeorge Syndrome	Acne, Impaired T cell function, Seborrheic dermatitis, Thrombocytopenia, Patent ductus arteriosus...	OMIM:188400
Noonan Syndrome-Like Disorder With Loose Anagen Hair 1	Eczema, Large for gestational age, Hyperkeratosis, Cafe-au-lait spot, Multiple lentigines, Ichthy...	OMIM:607721
Limb-Mammary Syndrome	Psoriasiform dermatitis, Dry skin	ORPHA:69085
Progeria-Short Stature-Pigmented Nevi Syndrome	Prematurely aged appearance, Lack of facial subcutaneous fat, Progeroid facial appearance	ORPHA:2959
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency	Recurrent respiratory infections, Abnormality of the pancreas, White hair, Agammaglobulinemia, Ly...	ORPHA:935
Synaptic Congenital Myasthenic Syndromes	Respiratory distress, Abnormal circulating enzyme concentration or activity, Neonatal respiratory...	ORPHA:98915
Viss Syndrome	Chronic gastritis, Eczema, Dyspnea, Patent ductus arteriosus, Pneumothorax, Hypereosinophilia, At...	OMIM:619472
Melkersson-Rosenthal Syndrome	Inflammatory abnormality of the skin, Cheilitis, Lymphadenopathy	ORPHA:2483
Kagami-Ogata Syndrome	Splenomegaly, Hepatomegaly, Pulmonary arterial hypertension, Pulmonic stenosis	OMIM:608149
Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome	Infectious encephalitis, Abnormal hemoglobin, Anemia	ORPHA:847
Distal Renal Tubular Acidosis	Polydipsia, Dehydration	ORPHA:18
Adams-Oliver Syndrome	Gastrointestinal hemorrhage, Portal hypertension, Congenital hepatic fibrosis, Leukopenia, Cirrho...	ORPHA:974
Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Impaired Intellectual Development, And Ear Anomalies Syndrome	Dry skin, Webbed neck	OMIM:280000
Aortic Arch Interruption	Aortic regurgitation, Shock, Tricuspid regurgitation, Blood pressure substantially higher in arms...	ORPHA:2299
Colchicine Poisoning	Dehydration	ORPHA:31824
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 3	Reduced subcutaneous adipose tissue, Prematurely aged appearance, Impulsivity, Excessive wrinkled...	OMIM:619950
Geleophysic Dysplasia 2	Hepatomegaly, Tricuspid stenosis, Respiratory insufficiency, Mitral regurgitation, Aortic valve s...	OMIM:614185
Bartter Syndrome, Type 3	Dehydration	OMIM:607364
Carney Triad	Mediastinal lymphadenopathy, Ascites, Anemia, Lymphadenopathy	ORPHA:139411
Occipital Horn Syndrome	Esophagitis, Jaundice, Hepatitis, Cholestasis	ORPHA:198
Menkes Disease	Spontaneous hematomas, Dry skin, Prolonged neonatal jaundice	ORPHA:565
Marbach-Rustad Progeroid Syndrome	Right bundle branch block, Pulmonary insufficiency	OMIM:619322
Mucopolysaccharidosis Type 3	Hepatomegaly, Recurrent sinopulmonary infections, Cardiomegaly, Respiratory tract infection, Sple...	ORPHA:581
Short Stature, Hearing Loss, Retinitis Pigmentosa, And Distinctive Facies	Progeroid facial appearance	OMIM:617763
Microcephaly-Lymphedema-Chorioretinopathy Syndrome	Dry skin, Scaling skin, Skin ulcer	ORPHA:2526
Asthma, Short Stature, And Elevated Iga	Asthma, Increased circulating IgA level	OMIM:208600
Complement Factor I Deficiency	Recurrent skin infections, Glomerulonephritis, Decreased circulating complement factor B concentr...	OMIM:610984
Juvenile Nephropathic Cystinosis	Polydipsia, Dehydration	ORPHA:411634
Eec Syndrome	Keratitis, Inflammatory abnormality of the eye, Hyperkeratosis, Hypoplasia of the thymus, General...	ORPHA:1896
Congenital Multicore Myopathy With External Ophthalmoplegia	Abnormal respiratory system physiology, Recurrent respiratory infections, Respiratory failure, Pn...	ORPHA:98905
Infantile Neuroaxonal Dystrophy	Increased circulating lactate dehydrogenase concentration, Apneic episodes in infancy, Aspiration...	ORPHA:35069
Meckel Syndrome 14	Pneumothorax, Cyanosis, Cardiorespiratory arrest	OMIM:619879
Noonan Syndrome 2	Patent ductus arteriosus, Hyperkeratosis, Leukemia, Cafe-au-lait spot, Hyperpigmentation of the skin	OMIM:605275
Oculocutaneous Albinism Type 1A	Hyperkeratosis, Thickened skin	ORPHA:79431
Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease	Acne, Paradoxical increased cortisol secretion on dexamethasone suppression test, Hyperlipidemia,...	ORPHA:189427
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome	Epistaxis, Intracranial hemorrhage, Hypertension, Second degree atrioventricular block, Pulmonary...	ORPHA:369929
Lipodystrophy, Familial Partial, Type 2	Hepatomegaly, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Acute pancreatitis, ...	OMIM:151660
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome	Hypoventilation, Cyanosis, Central hypoventilation, Aggressive behavior, Asthma, Cardiorespirator...	ORPHA:293987
Autosomal Dominant Progressive External Ophthalmoplegia	Ataxia, Respiratory insufficiency, Gait ataxia, Gait disturbance, Dysphagia, Hypokinesia, Exertio...	ORPHA:254892
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type	Hyperkeratosis	ORPHA:163966
Tarp Syndrome	Broad-based gait, Extramedullary hematopoiesis, Apnea, Cyanosis	ORPHA:2886
X-Linked Intellectual Disability, Nascimento Type	Dry skin	ORPHA:163956
Cogan Syndrome	Episcleritis, Keratitis, Leukocytosis, Uveitis, Scleritis, Conjunctivitis, Thrombocytosis, Inflam...	ORPHA:1467
Acute Adrenal Insufficiency	Dry skin	ORPHA:95409
Cystic Fibrosis	Elevated hepatic transaminase, Recurrent respiratory infections, Sinusitis, Reduced forced expira...	ORPHA:586
Punctate Palmoplantar Keratoderma Type 1	Hypergranulosis, Palmoplantar hyperkeratosis, Palmoplantar keratoderma, Orthokeratosis, Hyperkera...	ORPHA:79501
Cushing Syndrome Due To Ectopic Acth Secretion	Pancreatic adenocarcinoma, Acne, Paradoxical increased cortisol secretion on dexamethasone suppre...	ORPHA:99889
Cystinosis, Nephropathic	Polydipsia, Dehydration, Dysphagia, Oral-pharyngeal dysphagia	OMIM:219800
Inflammatory Bowel Disease 25, Autosomal Recessive	Perianal abscess, Pancolitis, Enterocolitis, Folliculitis, Recurrent bronchitis	OMIM:612567
Alopecia-Contractures-Dwarfism-Intellectual Disability Syndrome	Hyperkeratosis, Ichthyosis	ORPHA:1005
Mitochondrial Complex I Deficiency, Nuclear Type 37	Respiratory distress, Pulmonary arterial hypertension, Bradycardia	OMIM:619272
Camurati-Engelmann Disease	Hepatomegaly, Cachexia, Splenomegaly, Leukopenia, Slender build, Anemia, Elevated circulating ald...	ORPHA:1328
O'Sullivan-Mcleod Syndrome	Increased circulating antibody level, Eosinophilia	ORPHA:99965
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome	Spontaneous, recurrent epistaxis, Pancytopenia, Cachexia, Abnormality of the spleen, Thrombocytop...	ORPHA:2072
Mohr-Tranebjaerg Syndrome	Agammaglobulinemia, Aspiration pneumonia	ORPHA:52368
Arterial Tortuosity Syndrome	Progeroid facial appearance, Cutis laxa, Thin skin, Bruising susceptibility, Telangiectases of th...	OMIM:208050
Hajdu-Cheney Syndrome	Dry skin, Skin ulcer	ORPHA:955
Argininosuccinic Aciduria	Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Hyperglutaminemia, H...	OMIM:207900
Gaucher Disease, Type Iiic	Splenomegaly, Hepatomegaly, Pancytopenia, Cardiomegaly	OMIM:231005
Keutel Syndrome	Pulmonary arterial hypertension, Recurrent sinusitis	ORPHA:85202
Grfoma	Neoplasm of the pancreas, Hepatomegaly, Hypercalcemia, Neoplasm of the thymus, Intrahepatic chole...	ORPHA:97261
Diffuse Cutaneous Systemic Sclerosis	Telangiectasia of the skin, Dyspnea, Congestive heart failure, Pulmonary arterial hypertension, H...	ORPHA:220393
Chand Syndrome	Dry skin	ORPHA:1401
Aicardi-Goutières Syndrome	Acrocyanosis, Dry skin, Cutis marmorata, Prolonged neonatal jaundice	ORPHA:51
Wrinkly Skin Syndrome	Palmoplantar cutis laxa, Neonatal wrinkled skin of hands and feet, Redundant skin, Progeroid faci...	OMIM:278250
Multiple Mitochondrial Dysfunctions Syndrome 1	Pulmonary arterial hypertension, Respiratory failure, Respiratory insufficiency	OMIM:605711
Pitt-Hopkins Syndrome	Ataxia, Aggressive behavior, Gait ataxia, Self-injurious behavior, Acrocyanosis, Abnormal pattern...	ORPHA:2896
Sympathetic Ophthalmia	Erythema, Macular edema	ORPHA:79098
Marfanoid-Progeroid-Lipodystrophy Syndrome	Reduced subcutaneous adipose tissue, Bruising susceptibility, Progeroid facial appearance, Oligoh...	OMIM:616914
Citrullinemia, Classic	Hepatomegaly, Hyperglutaminemia, Hyperammonemia, Episodic ammonia intoxication, Cirrhosis, Elevat...	OMIM:215700
Gapo Syndrome	Palpebral edema, Prematurely aged appearance	ORPHA:2067
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 3	Pneumonia	OMIM:608033
Arterial Tortuosity Syndrome	Telangiectasia of the skin, Redundant skin, Prematurely aged appearance, Thin skin	ORPHA:3342
Congenitally Corrected Transposition Of The Great Arteries	Wolff-Parkinson-White syndrome, First degree atrioventricular block, Heart block, Ventricular tac...	ORPHA:216694
Roifman-Chitayat Syndrome	Arthritis, Pneumonia	OMIM:613328
Neurodevelopmental Disorder With Brain Anomalies, Seizures, And Scoliosis	Right bundle branch block	OMIM:618590
Vici Syndrome	Recurrent respiratory infections, Abnormality of retinal pigmentation, Decreased circulating IgG2...	ORPHA:1493
Scalp-Ear-Nipple Syndrome	Cutaneous photosensitivity, Dry skin	OMIM:181270
Idiopathic Steroid-Sensitive Nephrotic Syndrome With Secondary Steroid Resistance	Dyspnea, Pleural effusion, Hypertension, Pulmonary embolism	ORPHA:567546
Bartsocas-Papas Syndrome 1	Dry skin	OMIM:263650
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome	Urticaria, Hyperkeratosis, Erythema	ORPHA:2273
46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency	Dehydration	ORPHA:168558
Zollinger-Ellison Syndrome	Jaundice, Erythema	ORPHA:913
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency	Dehydration	ORPHA:289548
Atypical Werner Syndrome	Prominent superficial veins, Prematurely aged appearance, Telangiectasia of the skin, Progeroid f...	ORPHA:79474
Absence Of The Pulmonary Artery	Abnormal EKG, Atrial flutter, Tachycardia, Atrial fibrillation, Orthopnea, Nonproductive cough, D...	ORPHA:980
19P13.3 Microduplication Syndrome	Pulmonary arterial hypertension	ORPHA:447980
Biliary, Renal, Neurologic, And Skeletal Syndrome	Conjugated hyperbilirubinemia, Hepatic fibrosis, Elevated gamma-glutamyltransferase level, Hypoal...	OMIM:619534
Unilateral Polymicrogyria	Pseudobulbar paralysis, Cyanosis, Apnea, Epistaxis	ORPHA:268943
Caffey Disease	Increased circulating antibody level, Respiratory insufficiency	ORPHA:1310
Paternal Uniparental Disomy Of Chromosome 6	Dehydration, Oligohydramnios	ORPHA:96191
Down Syndrome	Prematurely aged appearance	ORPHA:870
Microcephalic Osteodysplastic Primordial Dwarfism, Type I	Death in infancy, Death in childhood, Stillbirth, Prolonged neonatal jaundice, Dry skin	OMIM:210710
Shiga Toxin-Associated Hemolytic Uremic Syndrome	Dehydration	ORPHA:90038
Palmoplantar Hyperkeratosis With Squamous Cell Carcinoma Of Skin And 46,Xx Sex Reversal	Hypertriglyceridemia, Orthokeratotic hyperkeratosis, Palmoplantar keratoderma, Hypercholesterolem...	OMIM:610644
Structural Heart Defects And Renal Anomalies Syndrome	Death in infancy, Cyanosis	OMIM:617478
Ectodermal Dysplasia-Skin Fragility Syndrome	Chapped lip, Recurrent skin infections, Pruritus, Recurrent pneumonia, Cheilitis, Palmoplantar ke...	ORPHA:158668
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 2	Elevated pulmonary artery pressure, Respiratory failure requiring assisted ventilation, Peritonit...	OMIM:619351
Chromosome Xp11.3 Deletion Syndrome	Progeroid facial appearance	OMIM:300578
Multiple Endocrine Neoplasia Type 4	Erythema, Subcutaneous lipoma	ORPHA:276152
Orofaciodigital Syndrome Type 1	Dry skin	ORPHA:2750
Koolen-De Vries Syndrome Due To A Point Mutation	Recurrent respiratory infections, Hypopigmentation of the skin, Fair hair, Small for gestational ...	ORPHA:363965
17Q21.31 Microdeletion Syndrome	Recurrent respiratory infections, Hypopigmentation of the skin, Fair hair, Small for gestational ...	ORPHA:363958
Hypothyroidism, Congenital, Nongoitrous, 2	Dry skin	OMIM:218700
Bartter Syndrome, Type 2, Antenatal	Polydipsia, Polyhydramnios, Dehydration	OMIM:241200
Immunodeficiency 33	Decreased circulating total IgM, Increased circulating IgA level	OMIM:300636
Kallmann Syndrome-Heart Disease Syndrome	Cyanosis	ORPHA:2326
Skeletal Dysplasia-Epilepsy-Short Stature Syndrome	Increased circulating IgE level	ORPHA:1858
Choreoacanthocytosis	Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Elevated circulating...	ORPHA:2388
Cornelia De Lange Syndrome 1	Thrombocytopenia, Duplication of internal organs, Pneumonia, Otitis media	OMIM:122470
Saul-Wilson Syndrome	Prominent superficial veins, Progeroid facial appearance	OMIM:618150
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans	Respiratory distress, Central apnea, Congestive heart failure, Respiratory failure, Pulmonary art...	OMIM:616482
Ectodermal Dysplasia And Immunodeficiency 1	Dysgammaglobulinemia, Reduced natural killer cell activity, Increased circulating IgA level, Incr...	OMIM:300291
Proximal Renal Tubular Acidosis	Polydipsia, Dehydration	ORPHA:47159
Cockayne Syndrome Type 2	Progeroid facial appearance	ORPHA:90322
Laubry-Pezzi Syndrome	Aortic regurgitation, Mildly reduced left ventricular ejection fraction, Congestive heart failure...	ORPHA:99094
Lymphangioleiomyomatosis	Recurrent respiratory infections, Atelectasis, Dyspnea, Pneumothorax, Abnormality of the lymphati...	ORPHA:538
Cutaneous Neuroendocrine Carcinoma	Lymphoid leukemia, Chronic noninfectious lymphadenopathy	ORPHA:79140
Diamond-Blackfan Anemia 1	Macrocytic anemia, Congenital hypoplastic anemia, Reticulocytopenia, Persistence of hemoglobin F,...	OMIM:105650
Isolated Permanent Neonatal Diabetes Mellitus	Dehydration	ORPHA:99885
Ciliary Dyskinesia, Primary, 20	Productive cough, Recurrent pneumonia, Bronchiectasis, Aortic valve stenosis, Respiratory insuffi...	OMIM:615067
Malakoplakia	Inflammatory abnormality of the skin, Skin rash, Follicular hyperplasia, Pruritus, Orchitis, Urin...	ORPHA:556
Addison Disease	Dry skin	ORPHA:85138
Noonan Syndrome 1	Dry skin, Bruising susceptibility, Webbed neck	OMIM:163950
Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To 5Q31.3 Microdeletion	Respiratory distress, Hypoventilation, Apnea, Recurrent pneumonia, Aspiration pneumonia	ORPHA:314655
Ppoma	Neoplasm of the pancreas, Hepatomegaly, Hypercalcemia, Intrahepatic cholestasis, Abnormal abdomen...	ORPHA:97278
Sapho Syndrome	Psoriasiform dermatitis, Acne, Osteomyelitis, Skin rash, Recurrent skin infections, Pustule, Syno...	ORPHA:793
Cleft Velum	Recurrent otitis media, Aspiration pneumonia	ORPHA:99772
Glycogen Storage Disease Of Heart, Lethal Congenital	Respiratory distress, Pleural effusion, Cyanosis, Apnea	OMIM:261740
Leopard Syndrome 1	Bundle branch block, Hypertrophic cardiomyopathy, Third degree atrioventricular block, Pulmonic s...	OMIM:151100
Xeroderma Pigmentosum, Complementation Group B	Cutaneous photosensitivity, Progeroid facial appearance	OMIM:610651
Lissencephaly Due To Lis1 Mutation	Neonatal hyperbilirubinemia, Aspiration pneumonia	ORPHA:95232
Noonan Syndrome-Like Disorder With Loose Anagen Hair 2	Right bundle branch block, Mitral regurgitation, Tricuspid regurgitation, Pulmonic stenosis	OMIM:617506
Urban-Rogers-Meyer Syndrome	Increased circulating IgE level, Obesity	ORPHA:3409
De Sanctis-Cacchione Syndrome	Parakeratosis, Cutaneous photosensitivity, Telangiectasia	OMIM:278800
Exercise-Induced Malignant Hyperthermia	Dry skin, Flushing	ORPHA:466650
Congenital Tracheal Stenosis	Respiratory distress, Cyanosis, Neonatal asphyxia, Wheezing, Dyspnea, Upper airway obstruction	ORPHA:141127
Mercury Poisoning	Respiratory distress, Dyspnea, Hypokalemia, Interstitial pneumonitis, Respiratory failure	ORPHA:330021
Proteus Syndrome	Abnormality of retinal pigmentation, Thymus hyperplasia, Generalized hyperpigmentation, Central h...	ORPHA:744
Restrictive Dermopathy 1	Prominent superficial blood vessels, Polyhydramnios, Epidermal hyperkeratosis, Stillbirth, Thin s...	OMIM:275210
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 2	Polyhydramnios, Bruising susceptibility, Follicular hyperkeratosis, Cutis laxa	OMIM:614557
Hemihyperplasia-Multiple Lipomatosis Syndrome	Abnormality of the lymphatic system, Hyperparakeratosis, Enlarged kidney, Seborrheic dermatitis	ORPHA:276280
Alacrima, Achalasia, And Impaired Intellectual Development Syndrome	Hyperkeratosis, Dysphagia	OMIM:615510
Multiple Endocrine Neoplasia Type 1	Anorexia, Dehydration	ORPHA:652
Bartter Syndrome Type 4	Polyhydramnios, Dehydration	ORPHA:89938
Telangiectasia, Hereditary Hemorrhagic, Type 4	Conjunctival telangiectasia, Spontaneous, recurrent epistaxis, Cyanosis, Dyspnea, Lip telangiecta...	OMIM:610655
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy	Elevated hepatic transaminase, Recurrent respiratory infections, Apnea, Tachypnea, Failure to thr...	ORPHA:397715
Heterotaxy, Visceral, 7, Autosomal	Cyanosis, Polysplenia	OMIM:616749
Neuroendocrine Neoplasm Of Appendix	Elevated hepatic transaminase, Hepatomegaly, Chronic noninfectious lymphadenopathy, Asthma, Prima...	ORPHA:100079
Sturge-Weber Syndrome	Conjunctival telangiectasia, Pulmonary embolism	ORPHA:3205
Fructose Intolerance, Hereditary	Elevated hepatic transaminase, Hepatomegaly, Jaundice, Bicarbonaturia, Hypophosphatemia, Hyperuri...	OMIM:229600
Osteogenesis Imperfecta, Type Iii	Pulmonary arterial hypertension	OMIM:259420
Microphthalmia With Linear Skin Defects Syndrome	Erythema	ORPHA:2556
Familial Dysautonomia	Acrocyanosis, Ataxia, Gait disturbance	ORPHA:1764
Goodpasture Syndrome	Cyanosis, Crackles, Increased DLCO, Tachypnea, Restrictive ventilatory defect, Cough, Anemia, Exe...	OMIM:233450
X-Linked Alport Syndrome-Diffuse Leiomyomatosis	Recurrent respiratory infections, Tracheobronchial leiomyomatosis, Keratitis, Dyspnea, Weight los...	ORPHA:1018
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked	Reduced alpha/beta synthesis ratio, HbH hemoglobin, Hypochromic microcytic anemia	OMIM:301040
Epidermolysis Bullosa, Junctional 7, With Interstitial Lung Disease And Nephrotic Syndrome	Erythema, Fragile skin	OMIM:614748
Systemic Sclerosis	Pericarditis, Nail bed telangiectasia, Right ventricular failure, Raynaud phenomenon, Dyspnea, My...	ORPHA:90291
Simpson-Golabi-Behmel Syndrome	Prolonged QT interval, Bundle branch block, Splenomegaly, Cardiomyopathy, Polysplenia	ORPHA:373
Bartter Syndrome, Type 1, Antenatal	Polyhydramnios, Dehydration	OMIM:601678
Primary Aldosteronism, Seizures, And Neurologic Abnormalities	Hypertension, Second degree atrioventricular block, Pulmonary arterial hypertension	OMIM:615474
Cutis Laxa, Autosomal Recessive, Type Ic	Death in infancy, Redundant skin, Progeroid facial appearance, Cutis laxa, Death in childhood	OMIM:613177
Microcephaly-Seizures-Intellectual Disability-Heart Disease Syndrome	Respiratory distress, Pulmonary arterial hypertension	ORPHA:2519
Seckel Syndrome	Prematurely aged appearance	ORPHA:808
Cushing Disease	Acne, Paradoxical increased cortisol secretion on dexamethasone suppression test, Leukocytosis, I...	ORPHA:96253
Neuropathy, Hereditary Sensory And Autonomic, Type Iii	Decreased sensitivity to hypoxemia, Acrocyanosis	OMIM:223900
Cardiac Valvular Dysplasia 2	Central cyanosis	OMIM:620067
Double Outlet Left Ventricle	Cyanosis, Tachypnea	ORPHA:3427
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Severe Form	Recurrent skin infections, Glomerulonephritis, Gastrointestinal inflammation, Anemia, Iron defici...	ORPHA:79408
17Q23.1Q23.2 Microdeletion Syndrome	Dyspnea, Pulmonary arterial hypertension	ORPHA:261279
Basel-Vanagaite-Smirin-Yosef Syndrome	Pulmonary arterial hypertension, Recurrent pneumonia	OMIM:616449
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb	Self-injurious behavior, Abnormal repetitive mannerisms, Palmoplantar erythema	OMIM:612474
Combined Oxidative Phosphorylation Deficiency 25	Failure to thrive, Aspiration pneumonia	OMIM:616430
Primary Fanconi Renotubular Syndrome	Dehydration	ORPHA:3337
Cerebrotendinous Xanthomatosis	Prematurely aged appearance, Aggressive behavior, Agitation, Attention deficit hyperactivity diso...	ORPHA:909
Brain-Lung-Thyroid Syndrome	Respiratory distress, Neonatal respiratory distress, Asthma, Recurrent pneumonia, Respiratory fai...	ORPHA:209905
Classical Ehlers-Danlos Syndrome	Striae distensae, Prematurely aged appearance, Poor wound healing, Joint swelling, Blepharochalas...	ORPHA:287
Kyphoscoliotic Ehlers-Danlos Syndrome	Poor wound healing, Thin skin, Follicular hyperkeratosis, Bruising susceptibility, Fragile skin	ORPHA:536545
Marshall-Smith Syndrome	Apnea, Patent ductus arteriosus, Recurrent upper respiratory tract infections, Melanocytic nevus,...	OMIM:602535
Alzahrani-Kuwahara Syndrome	Dry skin	OMIM:619268
Proximal Spinal Muscular Atrophy	Hypoventilation, Neonatal respiratory distress, Recurrent infections due to aspiration, Respirato...	ORPHA:70
Trichorhinophalangeal Syndrome, Type Ii	Redundant skin in infancy, Dry skin, Cutis laxa	OMIM:150230
Baller-Gerold Syndrome	Erythema	OMIM:218600
Parkinson Disease, Late-Onset	Lewy bodies, Substantia nigra gliosis	OMIM:168600
Myeloma, Multiple	Paraproteinemia	OMIM:254500
Wrinkly Skin Syndrome	Excessive wrinkled skin, Excessive skin wrinkling on dorsum of hands and fingers, Prominent veins...	ORPHA:2834
Danon Disease	Hypokinesia	OMIM:300257
Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta	Pulmonary arterial hypertension, Cyanosis, Exertional dyspnea	ORPHA:99050
Spondyloepimetaphyseal Dysplasia, Sponastrime Type	Laryngotracheomalacia, Decreased circulating IgG level, Neutropenia	OMIM:271510
Johanson-Blizzard Syndrome	Hepatomegaly, Failure to thrive, Fair hair, Small for gestational age, Elevated circulating aspar...	OMIM:243800
Heterotaxy, Visceral, 1, X-Linked	Asplenia, Cyanosis, Respiratory distress, Polysplenia	OMIM:306955
Psoriasis-Related Juvenile Idiopathic Arthritis	Anterior uveitis, Psoriasiform dermatitis, Skin rash, Pruritus, Iridocyclitis, Oligoarthritis, Uv...	ORPHA:85436
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome	Elevated circulating alpha-fetoprotein concentration, Hyperpigmented/hypopigmented macules, Paten...	ORPHA:280633
X-Linked Dystonia-Parkinsonism	Aspiration pneumonia	ORPHA:53351
Corpus Callosum, Agenesis Of, With Impaired Intellectual Development, Ocular Coloboma, And Micrognathia	Patent ductus arteriosus, Recurrent pneumonia, Recurrent aspiration pneumonia	OMIM:300472
Multisystemic Smooth Muscle Dysfunction Syndrome	Hypertension, Tachypnea, Pulmonary arterial hypertension	OMIM:613834
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency	Dehydration	ORPHA:90794
Mosaic Variegated Aneuploidy Syndrome 7 With Inflammation And Tumor Predisposition	Hyperkeratosis	OMIM:620189
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1	Hyperkeratosis, Ectodermal dysplasia, Xerostomia, Thin skin	OMIM:129900
Basel-Vanagaite-Smirin-Yosef Syndrome	Cholelithiasis, Recurrent pneumonia, Pulmonary arterial hypertension	ORPHA:464738
Scimitar Syndrome	Respiratory distress, Left-to-right shunt, Heart block, Congestive heart failure, Pneumothorax, C...	ORPHA:185
Neurodevelopmental Disorder With Hypotonia, Language Delay, And Skeletal Defects With Or Without Seizures	Stridor, Pulmonary arterial hypertension, Prolonged QT interval	OMIM:620029
Congenital Fiber-Type Disproportion Myopathy	Recurrent respiratory infections, Hypercapnia, Respiratory insufficiency due to muscle weakness, ...	ORPHA:2020
Aspartylglucosaminuria	Hepatomegaly, Recurrent respiratory infections, Acne, Vacuolated lymphocytes, Neutropenia	OMIM:208400
Global Developmental Delay-Osteopenia-Ectodermal Defect Syndrome	Impulsivity, Aggressive behavior, Thickened skin, Epidermal thickening, Orthokeratotic hyperkerat...	ORPHA:73223
Restrictive Dermopathy	Polyhydramnios, Epidermal hyperkeratosis, Scaling skin, Webbed neck, Generalized hyperkeratosis, ...	ORPHA:1662
Cutis Laxa, Autosomal Recessive, Type Iid	Right bundle branch block, Congestive heart failure, Hypertrophic cardiomyopathy	OMIM:617403
Hereditary Sensory And Autonomic Neuropathy Type 4	Dry skin, Bruising susceptibility	ORPHA:642
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 2	Increased circulating antibody level, Elevated circulating creatine kinase concentration, Elevate...	OMIM:606002
Keppen-Lubinsky Syndrome	Progeroid facial appearance, Lack of facial subcutaneous fat, Polyhydramnios	OMIM:614098
15Q Overgrowth Syndrome	Pulmonary arterial hypertension, Mitral regurgitation, Tricuspid regurgitation	ORPHA:314585
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome	Hypoventilation, Apnea, Decreased serum iron, Breathing dysregulation, Patent ductus arteriosus, ...	ORPHA:438213
Aorta Coarctation	Congestive heart failure, Hypertension, Pulmonary arterial hypertension	ORPHA:1457
Lenz-Majewski Hyperostotic Dwarfism	Prematurely aged appearance, Redundant skin	ORPHA:2658
Bickerstaff Brainstem Encephalitis	Respiratory failure requiring assisted ventilation, Pneumonia, Hypercapnia, Respiratory tract inf...	ORPHA:79138
Trichinellosis	Skin rash, Increased circulating IgE level, Conjunctivitis	ORPHA:863
Schwartz-Jampel Syndrome	Apnea, Respiratory insufficiency, Pulmonary arterial hypertension, Arrhythmia, Elevated circulati...	ORPHA:800
Carey-Fineman-Ziter Syndrome 1	Pulmonary arterial hypertension, Respiratory insufficiency	OMIM:254940
3Q29 Microdeletion Syndrome	Pulmonary arterial hypertension	ORPHA:65286
Cowden Syndrome	Enlarged polycystic ovaries, Hypopigmented skin patches, Melanocytic nevus, Palmoplantar keratode...	ORPHA:201
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome	Asthma, Patent ductus arteriosus, Obesity, Acanthosis nigricans, Aspiration pneumonia, Tracheomal...	ORPHA:444077
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 3	Hyperkeratosis, Ectodermal dysplasia, Xerostomia	OMIM:604292
Isolated Posterior Meningocele	Hypokinesia, Difficulty walking	ORPHA:268810
Chondrodysplasia Punctata, Autosomal Dominant	Hyperkeratosis with erythema	OMIM:118650
Vascular Ehlers-Danlos Syndrome	Prematurely aged appearance, Redundant skin, Telangiectasia of the skin, Excessive wrinkled skin,...	ORPHA:286
Coffin-Siris Syndrome	Hepatoblastoma, Patent ductus arteriosus, Recurrent upper respiratory tract infections, Aspiratio...	ORPHA:1465
Cutis Laxa, Autosomal Recessive, Type Iic	Aortic regurgitation, Tricuspid regurgitation, Right bundle branch block	OMIM:617402
Adenocarcinoma Of The Anal Canal	Neoplasm of the lung, Neoplasm of the liver, Lymphadenopathy	ORPHA:424016
Okur-Chung Neurodevelopmental Syndrome	Decreased circulating IgG level, Failure to thrive, Decreased circulating IgA level, Decreased ci...	OMIM:617062
6Q Terminal Deletion Syndrome	Hyperkeratosis, Failure to thrive, Obesity	ORPHA:75857
Developmental Delay With Or Without Dysmorphic Facies And Autism	Pulmonary arterial hypertension, Laryngotracheomalacia	OMIM:618454
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion	Recurrent respiratory infections, Pneumonia, Patent ductus arteriosus, Asthma, Obesity, Otitis me...	ORPHA:353281
Juvenile Polyposis Syndrome	Neoplasm of the pancreas, Gastrointestinal hemorrhage, Spontaneous, recurrent epistaxis, Transien...	ORPHA:2929
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins	Neonatal respiratory distress, Asplenia, Pulmonary lymphangiectasia, Right-to-left shunt, Pleural...	OMIM:265380
Mandibuloacral Dysplasia Progeroid Syndrome	Progeroid facial appearance, Palmoplantar hyperkeratosis	OMIM:619127
Lymphatic Malformation 13	Pulmonary arterial hypertension, Mitral regurgitation, Chronic lung disease	OMIM:620244
Truncus Arteriosus	Tachypnea, Cyanosis, Hypoplasia of the thymus	ORPHA:3384
Encephalitis Lethargica	Increased circulating antibody level, Hyperventilation	ORPHA:83600
Pmm2-Cdg	Elevated hepatic transaminase, Respiratory distress, Pericarditis, Reduced thyroxin-binding globu...	ORPHA:79318
Primary Hyperoxaluria	Acrocyanosis, Cutis marmorata	ORPHA:416
Cysticercosis	Iridocyclitis, Infectious encephalitis, Increased circulating antibody level	ORPHA:1560
Diaphragmatic Hernia 4, With Cardiovascular Defects	Hepatomegaly, Neonatal respiratory distress, Pulmonary arterial hypertension	OMIM:620025
Adult-Onset Autosomal Dominant Leukodystrophy	Aspiration pneumonia	ORPHA:99027
Metaphyseal Chondromatosis With D-2-Hydroxyglutaric Aciduria	Dry skin	ORPHA:99646
Williams Syndrome	Prematurely aged appearance, Redundant skin, Periorbital edema, Increased nuchal translucency, Co...	ORPHA:904
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome	Pulmonary arterial hypertension, Aplasia of the thymus, Prolonged neonatal jaundice	OMIM:620186
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency	Recurrent respiratory infections, Pneumonia, Patent ductus arteriosus, Asthma, Obesity, Otitis me...	ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations	Recurrent respiratory infections, Pneumonia, Patent ductus arteriosus, Asthma, Obesity, Otitis me...	ORPHA:353277
Dysmorphism-Short Stature-Deafness-Difference Of Sex Development Syndrome	Hypoxemia, Pulmonary arterial hypertension	ORPHA:2282
Kabuki Syndrome 1	Hemolytic anemia, Autoimmune thrombocytopenia, Recurrent otitis media, Cafe-au-lait spot, Recurre...	OMIM:147920
Cardiac Valvular Dysplasia 1	Cyanosis	OMIM:212093
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome	Absent gallbladder, Unilateral lung agenesis, Failure to thrive in infancy, Patent ductus arterio...	ORPHA:500150
Ctcf-Related Neurodevelopmental Disorder	Mitral regurgitation, Prolonged neonatal jaundice, Pulmonary arterial hypertension, Chronic lung ...	ORPHA:363611
Central Hypoventilation Syndrome, Congenital, 2, And Autonomic Dysfunction	Hypoventilation, Apnea, Hypopnea, Restrictive ventilatory defect, Aspiration pneumonia	OMIM:619482
Congenital Total Pulmonary Venous Return Anomaly	Respiratory distress, Hepatomegaly, Respiratory failure requiring assisted ventilation, Tricuspid...	ORPHA:99125
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14	Hepatomegaly, Hepatosplenomegaly, Restrictive ventilatory defect, Respiratory failure, Hepatoblas...	ORPHA:96334
Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations	Aortic regurgitation, Tricuspid regurgitation, Mitral stenosis, Tricuspid stenosis, Mitral regurg...	OMIM:143095
Generalized Arterial Calcification Of Infancy	Respiratory distress, Elevated alkaline phosphatase of bone origin, Transient ischemic attack, Re...	ORPHA:51608
Doors Syndrome	Respiratory distress, Thrombocytosis, Aspiration pneumonia	ORPHA:79500
Tetrasomy 9P	Absent gallbladder, Pericarditis, Raynaud phenomenon, Jaundice, Biliary atresia, Pulmonary arteri...	ORPHA:3310
Calcific Aortic Disease With Immunologic Abnormalities, Familial	Increased circulating antibody level	OMIM:114065
Branchioskeletogenital Syndrome	Blepharochalasis, Periorbital wrinkles	ORPHA:1299
Lafora Disease	Hepatic failure, Recurrent aspiration pneumonia	ORPHA:501
Semilobar Holoprosencephaly	Central apnea, Aspiration pneumonia, Failure to thrive, Abnormal pattern of respiration, Chronic ...	ORPHA:220386
Alobar Holoprosencephaly	Central apnea, Aspiration pneumonia, Failure to thrive, Abnormal pattern of respiration, Chronic ...	ORPHA:93925
Midline Interhemispheric Variant Of Holoprosencephaly	Central apnea, Aspiration pneumonia, Failure to thrive, Abnormal pattern of respiration, Chronic ...	ORPHA:93926
Lobar Holoprosencephaly	Central apnea, Aspiration pneumonia, Failure to thrive, Abnormal pattern of respiration, Chronic ...	ORPHA:93924
Encephalocraniocutaneous Lipomatosis	Pulmonary arterial hypertension, Aortic valve stenosis	ORPHA:2396
Cog1-Cdg	Pulmonary arterial hypertension, Hepatosplenomegaly	ORPHA:263508
Adams-Oliver Syndrome 1	Hypertension, Aortic valve stenosis, Pulmonary arterial hypertension, Pulmonic stenosis	OMIM:100300
Melnick-Needles Syndrome	Pulmonary arterial hypertension	OMIM:309350
Coffin-Lowry Syndrome	Acrocyanosis, Cutis marmorata	OMIM:303600
Yunis-Varon Syndrome	Pulmonary arterial hypertension, Hypertension, Renovascular hypertension, Cardiomyopathy	ORPHA:3472
17Q11 Microdeletion Syndrome	Telangiectasia of the skin, Renovascular hypertension, Hypertension, Hypertrophic cardiomyopathy,...	ORPHA:97685
Hypermobile Ehlers-Danlos Syndrome	Acrocyanosis, Apnea	ORPHA:285
Yunis-Varon Syndrome	Small for gestational age, Failure to thrive in infancy, Palmoplantar hyperkeratosis, Aspiration ...	OMIM:216340
Chromosome 17Q23.1-Q23.2 Deletion Syndrome	Pulmonary arterial hypertension	OMIM:613355

Histopathology

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

There is no histopathology data for Gba1

IMPC related publications

The table below lists publications which used either products generated by the IMPC or data produced by the phenotyping efforts of the IMPC. These publications have also been associated to Gba1.

No publications found that use IMPC mice or data for Gba1.

Order Mouse and ES Cells

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

MGI Allele	Allele Type	Produced
Gba1^{tm1a(EUCOMM)Hmgu}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors, ES Cells
Gba1^{tm1e(EUCOMM)Wtsi}	Targeted, non-conditional allele	ES Cells
Gba1^em1(IMPC)H	Exon Deletion	Mice
Gba1^{tm1e(EUCOMM)Hmgu}	Targeted, non-conditional allele	ES Cells
Gba1^{tm1a(EUCOMM)Wtsi}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors, ES Cells

Sequence

Guides

Sequence	Guide sequence	pam	chr	start	stop	strand	Genome build	gRNA Concentration	Truncated Guide	Reversed	Sanger service	Guide format	Guide source

Nucleases

Nuclease type	Nuclease class

Genotype primers

Sequence	Name

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