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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	7.07×10^-08
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

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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 (2382 diseases)

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

Disease	Matching phenotypes	Source
Gaucher Disease, Perinatal Lethal	Hypokinesia, Hepatosplenomegaly, Akinesia, Splenomegaly, Petechiae, Neonatal death, Purpura, Thro...	OMIM:608013
Gaucher Disease Type 1	Hepatosplenomegaly, Hypersplenism, Pancytopenia, Increased circulating antibody level, Cirrhosis,...	ORPHA:77259
Gaucher Disease, Type Iii	Pancytopenia, Splenomegaly, Decreased body weight, Decreased beta-glucocerebrosidase level, Throm...	OMIM:231000
Hereditary Late-Onset Parkinson Disease	Shuffling gait, Akinesia, Agitation, Dysphagia, Impulsivity	ORPHA:411602
Fetal Gaucher Disease	Abnormality of the spleen, Pancytopenia, Splenomegaly, Ichthyosis, Neonatal death, Thrombocytopen...	ORPHA:85212
Gaucher Disease Type 2	Hepatomegaly, Recurrent respiratory infections, Splenomegaly	ORPHA:77260
Gaucher Disease, Type I	Aortic valve stenosis, Epistaxis, Pancytopenia, Hypersplenism, Splenomegaly, Mitral regurgitation...	OMIM:230800
Gaucher Disease, Type Ii	Bronchiolitis, Failure to thrive, Splenomegaly, Hepatomegaly, Thrombocytopenia, Anemia, Recurrent...	OMIM:230900
Gaucher Disease Type 3	Pancytopenia, Splenomegaly, Increased circulating antibody level, Hepatomegaly, Thrombocytopenia,...	ORPHA:77261
Dementia, Lewy Body	Lewy bodies	OMIM:127750
Gaucher Disease, Type Iiic	Cardiomegaly, Hepatomegaly, Pancytopenia, Splenomegaly	OMIM:231005
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome	Bacterial endocarditis, Cholelithiasis, Hepatic fibrosis, Abnormality of the spleen, Hepatospleno...	ORPHA:2072
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 circulating lactate dehydrogenase concentration	OMIM:614128
Hydroxyacyl Glutathione Hydrolase Deficiency	Glyoxalase deficiency	OMIM:614033
Genitourinary Tract Anomalies	Neonatal death	OMIM:305690
Granulomas, Congenital Cerebral	Neonatal death	OMIM:306300
Vibratory Urticaria	Facial erythema, Dermatographic urticaria, Flushing, Urticaria	OMIM:125630
Erythrokeratodermia Variabilis Et Progressiva 4	Congenital nonbullous ichthyosiform erythroderma, Palmoplantar hyperkeratosis, Hyperkeratosis, Er...	OMIM:617526
Alcohol Sensitivity, Acute	Reduced acetaldehyde dehydrogenase level	OMIM:610251
Progressive Symmetric Erythrokeratodermia	Erythema, Palmoplantar keratoderma	ORPHA:316
Ichthyosis, Congenital, Autosomal Recessive 14	Erythema, Orthokeratotic hyperkeratosis, Scaling skin, Hyperkeratosis, 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	Gingival hyperkeratosis, Subungual hyperkeratosis, Focal friction-related palmoplantar hyperkerat...	OMIM:148730
Palmoplantar Keratoderma, Nonepidermolytic, Focal 1	Follicular hyperkeratosis, Perioral hyperkeratosis, Palmoplantar keratoderma, Congenital bullous ...	OMIM:613000
Porokeratosis Of Mibelli	Hyperkeratosis, Cutaneous photosensitivity, Porokeratosis	ORPHA:735
Erythrokeratodermia Variabilis Et Progressiva 2	Erythema, Palmoplantar keratoderma	OMIM:617524
Dermoodontodysplasia	Dry skin, Ectodermal dysplasia, Thin skin	OMIM:125640
Cutaneous Photosensitivity And Colitis, Lethal	Erythema, Early cutaneous photosensitivity, Death in infancy	OMIM:219095
Ichthyosis, Congenital, Autosomal Recessive 13	Palmoplantar hyperkeratosis, Ichthyosis, Hyperkeratosis, Hypergranulosis	OMIM:617574
Porokeratosis Plantaris Palmaris Et Disseminata	Hyperkeratotic papule, Palmoplantar hyperkeratosis, Porokeratosis, Generalized abnormality of skin	ORPHA:737
Acatalasemia	Reduced circulating catalase activity	OMIM:614097
Ichthyosis, Congenital, Autosomal Recessive 8	Erythema, Orthokeratosis, Hypergranulosis, Ichthyosis, Hyperkeratosis	OMIM:613943
Diffuse Palmoplantar Keratoderma, Bothnian Type	Diffuse palmoplantar hyperkeratosis, Erythema, Skin ulcer	ORPHA:2337
Ichthyosis, Annular Epidermolytic, 2	Erythema, Orthokeratosis, Palmoplantar keratoderma, Ichthyosis, Palmoplantar hyperkeratosis, Scal...	OMIM:620148
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia	Lymphadenitis, Decreased lymphocyte proliferation in response to anti-CD3, Recurrent otitis media...	OMIM:618986
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency	Lymphadenitis, Lymphopenia, Hepatosplenomegaly, Abnormal B cell count, Hepatomegaly, Decreased ly...	ORPHA:331206
Lymphoproliferative Syndrome, X-Linked, 2	Inflammation of the large intestine, Folliculitis, Aplastic anemia, Hepatitis, Hemophagocytosis, ...	OMIM:300635
Hyperkeratosis-Hyperpigmentation Syndrome	Hyperkeratosis, Cutaneous photosensitivity	ORPHA:1336
Dermatoleukodystrophy	Thickened skin, Progeroid facial appearance, Premature skin wrinkling	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
Dermatofibrosarcoma Protuberans	Thickened skin, Skin ulcer, Erythema	ORPHA:31112
Epidermolysis Bullosa Simplex 2E, With Migratory Circinate Erythema	Erythema migrans	OMIM:609352
Erythema Palmare Hereditarium	Erythema	OMIM:133000
Hailey-Hailey Disease	Erythema	OMIM:169600
Annular Erythema	Erythema	OMIM:106500
Combined Immunodeficiency Due To Zap70 Deficiency	Pneumonia, Decreased lymphocyte proliferation in response to mitogen, Lymphadenitis, Chronic muco...	ORPHA:911
Immunodeficiency 27A	Pneumonia, Hypoalbuminemia, Increased circulating IgG level, Hepatosplenomegaly, Leukocytosis, Sp...	OMIM:209950
Mal De Meleda	Congenital symmetrical palmoplantar keratosis, Perioral erythema, Ichthyosis	OMIM:248300
Bundle Branch Block, Familial Isolated Complete Right	Right bundle branch block	OMIM:113950
Thrombophilia, X-Linked, Due To Factor Viii Defect	Pulmonary embolism	OMIM:301071
Antithrombin Iii Deficiency	Pulmonary embolism, Arterial occlusion	OMIM:613118
Uv-Sensitive Syndrome 3	Telangiectasia, Dry skin, Cutaneous photosensitivity	OMIM:614640
Cephalin Lipidosis	Abnormality of the spleen	OMIM:212800
Hereditary Palmoplantar Keratoderma, Gamborg-Nielsen Type	Diffuse palmoplantar hyperkeratosis, Hyperkeratosis with erythema	ORPHA:86923
Palmoplantar Keratoderma, Punctate Type Iii	Acrokeratosis, Hyperkeratosis	OMIM:101850
Dermatoleukodystrophy	Thickened skin, Hyperkeratosis	ORPHA:1659
Thrombophilia Due To Thrombin Defect	Pulmonary embolism	OMIM:188050
Ichthyosis Hystrix, Lambert Type	Orthokeratotic hyperkeratosis, Hyperkeratosis	OMIM:146600
Orthostatic Hypotensive Disorder, Streeten Type	Facial erythema, Bruising susceptibility	OMIM:143850
Acral Self-Healing Collodion Baby	Erythema, Localized epidermolytic hyperkeratosis, Palmoplantar scaling skin, Lack of skin elasticity	ORPHA:281127
Granulomatous Disease, Chronic, Autosomal Recessive, 5	Recurrent pneumonia, Recurrent tonsillitis, Lymphadenitis, Eczematoid dermatitis, Granuloma, Lymp...	OMIM:618935
Keratolytic Winter Erythema	Erythema	OMIM:148370
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome	Hepatitis, Recurrent otitis media, Lymphopenia, Splenomegaly, Autoimmune hemolytic anemia, Respir...	ORPHA:444463
Atrial Septal Defect-Atrioventricular Conduction Defects Syndrome	Bundle branch block, Arrhythmia	ORPHA:1479
Erythrokeratodermia Variabilis Et Progressiva 3	Erythema, Orthokeratosis, Palmoplantar keratoderma, Hypergranulosis, Hyperkeratosis	OMIM:617525
Palmoplantar Keratoderma And Congenital Alopecia 2	Dry skin, Facial erythema, Palmoplantar hyperkeratosis, Hyperkeratosis, Sclerodactyly	OMIM:212360
Ichthyosis, Annular Epidermolytic, 1	Erythema, Orthokeratosis, Hyperparakeratosis, Ichthyosis, Palmoplantar hyperkeratosis, Scaling sk...	OMIM:607602
Immunodeficiency 64 With Lymphoproliferation	Increased proportion autoreactive unresponsive CD21-/low B cells, Decreased circulating IgG level...	OMIM:618534
Erythema Nodosum, Familial	Erythema	OMIM:132990
Peeling Skin Syndrome 2	Erythema, Scaling skin	OMIM:609796
Immunodeficiency 78 With Autoimmunity And Developmental Delay	Fluctuating splenomegaly, Recurrent otitis media, Autoimmune hemolytic anemia, Recurrent lower re...	OMIM:619220
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency	Hepatic fibrosis, Inflammation of the large intestine, Elevated circulating hepatic transaminase ...	OMIM:615895
Ventricular Tachycardia, Familial	Paroxysmal ventricular tachycardia, Right bundle branch block, Sudden cardiac death, Cardiomyopathy	OMIM:192605
Glycine N-Methyltransferase Deficiency	Hepatomegaly, Elevated circulating hepatic transaminase concentration	OMIM:606664
Ulerythema Ophryogenesis	Hyperkeratotic papule, Facial erythema, Follicular hyperkeratosis, Dry skin	ORPHA:3406
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity	Failure to thrive, Recurrent otitis media, Decreased CD4:CD8 ratio, Splenomegaly, Autoimmune hemo...	OMIM:618495
Immunodeficiency 51	Pneumonia, Folliculitis, Chronic mucocutaneous candidiasis, Eczematoid dermatitis, Cutaneous absc...	OMIM:613953
Hereditary Thrombophilia Due To Congenital Antithrombin Deficiency	Portal vein thrombosis, Pulmonary embolism	ORPHA:82
Peeling Skin Syndrome 3	Erythema, White scaling skin	OMIM:616265
Erythema Of Acral Regions	Erythema	OMIM:227000
Familial Benign Chronic Pemphigus	Erythema, Acantholysis, Hyperkeratosis, Skin vesicle	ORPHA:2841
Superficial Epidermolytic Ichthyosis	Erythema, Palmoplantar keratoderma, Ichthyosis, Acantholysis, Edema, Thin skin	ORPHA:455
Progressive Familial Heart Block, Type Ia	Left anterior fascicular block, Left posterior fascicular block, Right bundle branch block, Synco...	OMIM:113900
Mastocytosis, Cutaneous	Erythema, Telangiectasia macularis eruptiva perstans, Urticaria	OMIM:154800
Anonychia With Flexural Pigmentation	Dry skin	OMIM:106750
Ichthyosis, Lamellar, Autosomal Dominant	Hyperkeratosis, Congenital nonbullous ichthyosiform erythroderma	OMIM:146750
Ichthyosis Hystrix, Curth-Macklin Type	Hyperkeratotic papule, Palmoplantar keratoderma, Fragile skin, Scaling skin	OMIM:146590
Cutis Laxa, Autosomal Dominant 2	Cutis laxa, Premature skin wrinkling	OMIM:614434
Cutaneous Collagenous Vasculopathy	Erythema, Bruising susceptibility, Vascular skin abnormality, Petechiae, Diffuse telangiectasia, ...	ORPHA:280779
Macrophage Activation Syndrome	Hemophagocytosis, Elevated circulating alanine aminotransferase concentration, Neutropenia, Hepat...	ORPHA:158061
Brugada Syndrome	Trifascicular block, Supraventricular tachycardia, Syncope, Paroxysmal ventricular tachycardia, F...	ORPHA:130
Hemophagocytic Lymphohistiocytosis, Familial, 4	Hemophagocytosis, Increased circulating ferritin concentration, Skin rash, Splenomegaly, Hypertri...	OMIM:603552
Acquired Ichthyosis	Erythema, Palmoplantar keratoderma, Dry skin, Ichthyosis, Hyperkeratosis	ORPHA:454
Palmoplantar Keratoderma, Nagashima Type	Orthokeratotic hyperkeratosis, Palmoplantar hyperkeratosis, Hypergranulosis	OMIM:615598
Ichthyosis With Erythrokeratoderma	Erythema, Palmoplantar keratoderma, Congenital ichthyosiform erythroderma, Diffuse palmoplantar h...	OMIM:620507
Mal De Meleda	Nonepidermolytic palmoplantar hyperkeratosis, Palmoplantar keratoderma, Ichthyosis, Erythema	ORPHA:87503
Immunodeficiency 104	Pneumonia, Chronic mucocutaneous candidiasis, Eczematoid dermatitis, Failure to thrive secondary ...	OMIM:608971
Amyloidosis, Primary Localized Cutaneous, 3	Dry skin, Cutaneous photosensitivity	OMIM:617920
Granulomatous Disease, Chronic, Autosomal Recessive, 1	Discoid lupus rash, Recurrent pneumonia, Lymphadenitis, Eczematoid dermatitis, Osteomyelitis, Imp...	OMIM:233700
Granulomatous Disease, Chronic, Autosomal Recessive, 2	Discoid lupus rash, Recurrent pneumonia, Lymphadenitis, Eczematoid dermatitis, Osteomyelitis, Imp...	OMIM:233710
Acral Peeling Skin Syndrome	Erythema, Excessive wrinkling of palmar skin, Ichthyosis, Scaling skin	ORPHA:263534
Palmoplantar Keratoderma-Deafness Syndrome	Palmoplantar keratoderma, Hyperkeratosis	ORPHA:2202
Jessner Lymphocytic Infiltration Of The Skin	Erythema, Cutaneous photosensitivity	ORPHA:33314
Incessant Infant Ventricular Tachycardia	Congestive heart failure, Bundle branch block, Prolonged QRS complex, Supraventricular tachycardi...	ORPHA:45453
Familial Progressive Cardiac Conduction Defect	Congestive heart failure, Bundle branch block, Arrhythmia, Syncope, Heart block	ORPHA:871
Immunodeficiency 72 With Autoinflammation And Lymphoproliferation	Herpes simplex encephalitis, Recurrent otitis media, Molluscum contagiosum, Hepatosplenomegaly, I...	OMIM:618982
Granulomatous Disease, Chronic, Autosomal Recessive, 4	Discoid lupus rash, Recurrent pneumonia, Lymphadenitis, Eczematoid dermatitis, Osteomyelitis, Imp...	OMIM:233690
Heparin-Induced Thrombocytopenia	Autoimmune thrombocytopenia, Pulmonary embolism, Myocardial infarction, Cerebral ischemia	ORPHA:3325
Cardiomyopathy, Dilated, 1U	Dilated cardiomyopathy, Congestive heart failure, Severely reduced left ventricular ejection frac...	OMIM:613694
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 2	Right bundle branch block, Elevated circulating creatine kinase concentration	OMIM:613158
Trichothiodystrophy 7, Nonphotosensitive	Congenital nonbullous ichthyosiform erythroderma, Cutaneous photosensitivity, Follicular hyperker...	OMIM:618546
Palmoplantar Keratoderma, Norrbotten Recessive Type	Palmoplantar keratoderma, Hyperkeratosis	OMIM:244850
Brugada Syndrome 2	Right bundle branch block, Syncope, First degree atrioventricular block, Ventricular fibrillation...	OMIM:611777
Krt1-Related Diffuse Nonepidermolytic Keratoderma	Erythema, Dry skin, Palmoplantar scaling skin, Diffuse palmoplantar hyperkeratosis, Scaling skin,...	ORPHA:530838
Immunodeficiency With Hyper-Igm, Type 1	Enteroviral encephalitis, Cirrhosis, Increased circulating IgA level, Neutropenia, Hepatomegaly, ...	OMIM:308230
Progressive Familial Heart Block, Type Ib	Left anterior fascicular block, Atrioventricular block, Shortened PR interval, Arrhythmia, Syncop...	OMIM:604559
Porokeratosis 2, Palmar, Plantar, And Disseminated Type	Palmar telangiectasia, Plantar telangiectasia, Porokeratosis	OMIM:175850
Congenital Ichthyosis-Microcephalus-Tetraplegia Syndrome	Dry skin	ORPHA:2271
Uv-Sensitive Syndrome 1	Telangiectasia, Dry skin, Cutaneous photosensitivity	OMIM:600630
Niemann-Pick Disease, Type B	Sea-blue histiocytosis, Decreased HDL cholesterol concentration, Increased LDL cholesterol concen...	OMIM:607616
Selective Igm Deficiency	Allergic rhinitis, Rheumatoid arthritis, Lymphadenitis, Decreased proportion of CD8-positive T ce...	ORPHA:331235
Cardiomyopathy, Dilated, 1Bb	Dilated cardiomyopathy, Congestive heart failure, Severely reduced left ventricular ejection frac...	OMIM:612877
Idiopathic Localized Lipodystrophy	Erythema, Reduced subcutaneous adipose tissue, Scleroderma, Morphea, Scaling skin	ORPHA:90158
Pseudo-Torch Syndrome 3	Lymphadenitis, Increased circulating ferritin concentration, Leukocytosis, Cardiomegaly, Congenit...	OMIM:618886
Brugada Syndrome 5	Bundle branch block, Ventricular fibrillation, ST segment elevation	OMIM:612838
Granulomatous Disease, Chronic, X-Linked	Discoid lupus rash, Recurrent pneumonia, Lymphadenitis, Eczematoid dermatitis, Granuloma, Atelect...	OMIM:306400
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease	Recurrent upper respiratory tract infections, Hemophagocytosis, Abnormal pulmonary interstitial m...	OMIM:613101
Hyperkeratosis Lenticularis Perstans	Hyperkeratosis lenticularis perstans	OMIM:144150
Angioma Serpiginosum, Autosomal Dominant	Hyperkeratosis	OMIM:106050
Papillomatosis, Confluent And Reticulated	Hyperkeratosis	OMIM:167900
Arrhythmogenic Right Ventricular Dysplasia, Familial, 10	Right ventricular cardiomyopathy, Palpitations, Right bundle branch block, Premature ventricular ...	OMIM:610193
Lymphoproliferative Syndrome, X-Linked, 1	Aplastic anemia, Hemophagocytosis, Pancytopenia, Abnormal B cell count, Neutropenia, Recurrent ph...	OMIM:308240
Brugada Syndrome 1	Atrial flutter, Supraventricular tachycardia with an accessory connection mediated pathway, Synco...	OMIM:601144
Peeling Skin Syndrome 5	Hyperkeratosis, Scaling skin	OMIM:617115
Aquagenic Palmoplantar Keratoderma	Orthokeratotic hyperkeratosis, Excessive skin wrinkling on dorsum of hands and fingers, Palmoplan...	ORPHA:498359
Leishmaniasis	Hypoalbuminemia, Elevated circulating hepatic transaminase concentration, Pancytopenia, Leukopeni...	ORPHA:507
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency	Lymphopenia, Lymph node hypoplasia, Decreased proportion of CD4-positive helper T cells, Abnormal...	ORPHA:276
Pulmonary Hypoplasia, Primary	Neonatal death	OMIM:265430
Dowling-Degos Disease 2	Hyperkeratotic papule, Follicular hyperkeratosis	OMIM:615327
Woolly Hair-Skin Fragility Syndrome	Acantholysis, Palmoplantar keratoderma, Fragile skin	OMIM:620415
Thrombophilia Due To Protein C Deficiency, Autosomal Dominant	Pulmonary embolism	OMIM:176860
Epidermolysis Bullosa Simplex 1C, Localized	Hyperkeratosis	OMIM:131800
X-Linked Agammaglobulinemia	Recurrent pneumonia, Abnormal lung morphology, Hepatitis, Hypopigmented skin patches, Failure to ...	ORPHA:47
Brugada Syndrome 8	ST segment elevation, Ventricular tachycardia, Right bundle branch block	OMIM:613123
Cardiomyopathy, Dilated, 1E	Atrial standstill, Atrioventricular block, Dilated cardiomyopathy, Atrial flutter, Premature atri...	OMIM:601154
Epidermolytic Hyperkeratosis 2A, Autosomal Dominant	Palmoplantar keratoderma, Generalized hyperkeratosis, Cobblestone-like hyperkeratosis, Palmoplant...	OMIM:620150
Reticulate Acropigmentation Of Kitamura	Hyperkeratosis	OMIM:615537
Ceroid storage disease	Abnormality of the spleen, Hepatic failure	OMIM:214200
Ichthyosis, Congenital, Autosomal Recessive 10	Palmoplantar keratoderma, Hypergranulosis, Orthokeratotic hyperkeratosis, Generalized ichthyosis,...	OMIM:615024
Immunodeficiency 69	Hemophagocytosis, Failure to thrive, Increased circulating ferritin concentration, Hepatosplenome...	OMIM:618963
Immunodeficiency 97 With Autoinflammation	Hemophagocytosis, Recurrent otitis media, Lymphopenia, Hepatosplenomegaly, Decreased proportion o...	OMIM:619802
Elastoderma	Cutis laxa, Premature skin wrinkling	ORPHA:228240
Gaucher Disease, Atypical, Due To Saposin C Deficiency	Hypocholesterolemia, Hypersplenism, Splenomegaly, Hepatomegaly, Thrombocytopenia, Anemia	OMIM:610539
Adult-Onset Still Disease	Weight loss, Neutrophilia, Hepatomegaly, Elevated circulating C-reactive protein concentration, L...	ORPHA:829
Combined Oxidative Phosphorylation Deficiency 16	Hypertrophic cardiomyopathy, Elevated circulating aspartate aminotransferase concentration, Eleva...	OMIM:615395
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta	Pneumonia, Decreased circulating IgG level, Recurrent pneumonia, Decreased lymphocyte proliferati...	ORPHA:169160
Tooth Agenesis, Selective, 8	Dry skin	OMIM:617073
Ichthyosis Vulgaris	Dry skin	OMIM:146700
Erosive Pustular Dermatosis Of The Scalp	Erythema	ORPHA:222
Autoimmune Lymphoproliferative Syndrome, Type Iii	Increased proportion autoreactive unresponsive CD21-/low B cells, Decreased proportion of memory ...	OMIM:615559
Keratolytic Winter Erythema	Erythema	ORPHA:50943
Hyper-Igd Syndrome	Neutrophilia, Lymphadenitis, Molluscum contagiosum, Hepatosplenomegaly, Leukocytosis, Skin rash, ...	OMIM:260920
Amyloidosis, Primary Localized Cutaneous, 1	Dry skin, Scaling skin	OMIM:105250
Autoimmune Lymphoproliferative Syndrome, Type Iia	Follicular hyperplasia, Increased circulating IgA level, Hepatomegaly, Autoimmune thrombocytopeni...	OMIM:603909
Caspase 8 Deficiency	Pneumonia, Decreased circulating IgG level, Eczematoid dermatitis, Failure to thrive, Decreased C...	OMIM:607271
Immunodeficiency 32B	Pneumonia, Hypoalbuminemia, Failure to thrive, Impaired oxidative burst, Abnormal circulating IgG...	OMIM:226990
Autoimmune Lymphoproliferative Syndrome	Reduced delayed hypersensitivity, Chronic noninfectious lymphadenopathy, Splenomegaly, Follicular...	OMIM:601859
Erythrokeratodermia Variabilis Et Progressiva 5	Palmoplantar hyperkeratosis, Hyperkeratosis	OMIM:617756
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency	Decreased lymphocyte proliferation in response to mitogen, Recurrent upper respiratory tract infe...	ORPHA:169154
Angioma, Tufted	Vascular skin abnormality	OMIM:607859
Atrophoderma Vermiculata	Hyperkeratotic papule, Follicular hyperkeratosis, Erythema	ORPHA:79100
Pressure-Induced Localized Lipoatrophy	Erythema, Reduced subcutaneous adipose tissue	ORPHA:90160
Immunodeficiency 52	Recurrent pneumonia, Increased proportion of gamma-delta T cells, Failure to thrive, Lymphopenia,...	OMIM:617514
Immunodeficiency 24	Decreased proportion of memory B cells, Reduced proportion of mucosal-associated invariant T cell...	OMIM:615897
Severe Combined Immunodeficiency, X-Linked	Pneumonia, Decreased circulating IgG level, Recurrent pneumonia, Decreased circulating IgE, Failu...	OMIM:300400
Diaphragmatic Hernia 5, X-Linked	Neonatal death	OMIM:306950
Griscelli Syndrome	Silver-gray hair, Bone marrow hypocellularity, Iris hypopigmentation, Hepatitis, Abnormal circula...	ORPHA:381
Drug-Induced Localized Lipodystrophy	Erythema, Reduced subcutaneous adipose tissue	ORPHA:90157
Autoinflammation With Arthritis And Dyskeratosis	Failure to thrive, Hypereosinophilia, Splenomegaly, Autoimmune hemolytic anemia, Punctate keratit...	OMIM:617388
Immunodeficiency 53	Recurrent pneumonia, Recurrent upper respiratory tract infections, Failure to thrive, Recurrent o...	OMIM:617585
Immunodeficiency 68	Lymphadenitis, Abscess, T lymphocytopenia, B lymphocytopenia, Septic arthritis, Abnormal natural ...	OMIM:612260
Immunodeficiency 48	Pneumonia, Eczematoid dermatitis, Failure to thrive, Panhypogammaglobulinemia, Abnormal B cell co...	OMIM:269840
Igg4-Related Kidney Disease	Arteritis, Inflammatory abnormality of the skin, Lymphadenitis, Abnormal mesentery morphology, In...	ORPHA:449395
Cardiomyopathy, Dilated, 1V	Dilated cardiomyopathy, Congestive heart failure, Reduced left ventricular ejection fraction, Syn...	OMIM:613697
Immunodeficiency 109 With Lymphoproliferation	Decreased circulating IgG level, Decreased specific pneumococcal antibody level, Decreased lympho...	OMIM:620282
Rat-Bite Fever	Lymphadenitis, Parotitis, Morbilliform rash, Abdominal aseptic abscess, Skin rash, Pustule, Myoca...	ORPHA:31205
Panniculitis-Induced Localized Lipodystrophy	Erythema, Reduced subcutaneous adipose tissue, Vasculitis in the skin	ORPHA:90159
Autosomal Dominant Epidermolytic Ichthyosis	Palmoplantar keratoderma, Skin ulcer, Ichthyosis, Cutaneous photosensitivity, Hyperkeratosis, Con...	ORPHA:312
Ichthyosis, Congenital, Autosomal Recessive 3	Erythema, Palmoplantar keratoderma, Ichthyosis, Hyperkeratosis, Congenital nonbullous ichthyosifo...	OMIM:606545
Cardiac Conduction Disease With Or Without Dilated Cardiomyopathy	Left anterior fascicular block, Dilated cardiomyopathy, Atrial flutter, Prolonged QTc interval, C...	OMIM:616117
Anonychia With Flexural Pigmentation	Follicular hyperkeratosis, Hyperkeratosis, Macular telangiectasia	ORPHA:69125
Immunodeficiency 95	Decreased circulating IgG3 level, Recurrent viral pneumonia, Lymphopenia, Recurrent viral upper r...	OMIM:619773
Keratoderma Hereditarium Mutilans With Ichthyosis	Orthokeratosis, Palmoplantar keratoderma, Honeycomb palmoplantar hyperkeratosis, Hypergranulosis,...	ORPHA:79395
Ichthyosis-Hepatosplenomegaly-Cerebellar Degeneration Syndrome	Hepatomegaly, Ichthyosis, Splenomegaly	ORPHA:2274
Benign Cephalic Histiocytosis	Inflammatory abnormality of the skin, Histiocytosis, Skin rash	ORPHA:157997
Factor V Excess With Spontaneous Thrombosis	Pulmonary embolism	OMIM:134400
Wilson Disease	Elevated circulating hepatic transaminase concentration, Hepatitis, Failure to thrive, Acute hepa...	ORPHA:905
Immunodeficiency 102	Decreased proportion of CD4-positive helper T cells, Hepatomegaly, Recurrent lower respiratory tr...	OMIM:301082
Immunodeficiency, Common Variable, 1	Pneumonia, Decreased circulating IgG level, Recurrent pneumonia, Abnormal T cell count, Impaired ...	OMIM:607594
Spinocerebellar Ataxia Type 27	Difficulty walking, Akinesia, Limb ataxia, Gait ataxia, Aggressive behavior, Gait disturbance, Tr...	ORPHA:98764
Hemoglobin D Disease	Reduced beta/alpha synthesis ratio, Reduced hemoglobin A, Imbalanced hemoglobin synthesis, Spleno...	ORPHA:90039
Long Qt Syndrome 13	Atrioventricular block, Pulmonary embolism, Congestive heart failure, Torsade de pointes, Reduced...	OMIM:613485
Peeling Skin Syndrome 4	Orthokeratosis, Palmoplantar keratoderma, Ichthyosis, Scaling skin, Hyperkeratosis	OMIM:607936
Classic Mycosis Fungoides	Irregular hyperpigmentation, Eczematoid dermatitis, Hypopigmented skin patches, Abnormal lymphocy...	ORPHA:2584
Sydenham Chorea	Compulsive behaviors, Erythema, Inappropriate behavior	ORPHA:306731
Immunodeficiency 115 With Autoinflammation	Hypoalbuminemia, Decreased circulating IgG level, Eczematoid dermatitis, Intestinal lymphangiecta...	OMIM:620632
Immunodeficiency 91 And Hyperinflammation	Recurrent pneumonia, Elevated circulating hepatic transaminase concentration, Increased circulati...	OMIM:619644
Cardiomyopathy, Dilated, 1C, With Or Without Left Ventricular Noncompaction	Dilated cardiomyopathy, Congestive heart failure, Left bundle branch block, Increased left ventri...	OMIM:601493
Crigler-Najjar Syndrome, Type Ii	Reduced tissue UDP-glucuronyl-transferase activity, Jaundice, Elevated circulating hepatic transa...	OMIM:606785
Proteasome-Associated Autoinflammatory Syndrome 2	Decreased proportion of memory B cells, Failure to thrive, Abnormal circulating IgM level, Neutro...	OMIM:618048
Hypotrichosis 6	Erythema, Follicular hyperkeratosis	OMIM:607903
Lymphoproliferative Syndrome 1	Decreased circulating IgG level, Hemophagocytosis, Increased circulating ferritin concentration, ...	OMIM:613011
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked	Eczematoid dermatitis, Hepatitis, Failure to thrive, Increased circulating IgE level, Decreased F...	OMIM:304790
Beta-Thalassemia	Cholelithiasis, Hepatitis, Microcytic anemia, Splenomegaly, Abnormal hemoglobin, Hepatomegaly, Th...	ORPHA:848
Congenital Lethal Erythroderma	Dry skin, Death in infancy, Urticaria	ORPHA:1954
Hemophagocytic Lymphohistiocytosis, Familial, 3	Hemophagocytosis, Reduced natural killer cell activity, Hepatosplenomegaly, Hypertriglyceridemia,...	OMIM:608898
Whim Syndrome	Pneumonia, Recurrent pneumonia, Recurrent upper respiratory tract infections, Lymphadenitis, Atel...	ORPHA:51636
Histiocytosis, Familial Lipochrome	Increased circulating antibody level, Histiocytosis, Increased alpha-globulin	OMIM:235900
Methemoglobinemia, Beta Type	Methemoglobinemia, Cyanosis	OMIM:617971
Methemoglobinemia, Alpha Type	Methemoglobinemia, Cyanosis	OMIM:617973
Proteasome-Associated Autoinflammatory Syndrome 5	Failure to thrive in infancy, Skin rash, Splenomegaly, Hypertriglyceridemia, Hepatomegaly	OMIM:619175
Immunodeficiency By Defective Expression Of Mhc Class Ii	Abnormality of humoral immunity, Abnormal CD4:CD8 ratio, Pancytopenia, Decreased proportion of CD...	ORPHA:572
Sting-Associated Vasculopathy, Infantile-Onset	Pustular rash, Failure to thrive, Lymphopenia, Leukopenia, Malar rash, Follicular hyperplasia, Sk...	OMIM:615934
Cholestasis, Progressive Familial Intrahepatic, 11	Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Elevated circulating...	OMIM:619874
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant	Decreased specific pneumococcal antibody level, Splenomegaly, Decreased circulating IgG2 level, I...	OMIM:615513
Progressive Supranuclear Palsy-Pure Akinesia With Gait Freezing Syndrome	Short stepped shuffling gait, Falls, Akinesia, Gait imbalance, Freezing of gait, Loss of ambulati...	ORPHA:240094
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia	Decreased specific anti-polysaccharide antibody level, Recurrent otitis media, Decreased CD4:CD8 ...	OMIM:300853
Cardiomyopathy, Dilated, 1D	Dilated cardiomyopathy, Incomplete right bundle branch block, Congestive heart failure, Reduced l...	OMIM:601494
Congenital Panfollicular Nevus	Hyperkeratosis	ORPHA:139414
Bile Acid Synthesis Defect, Congenital, 1	Giant cell hepatitis, Hepatic failure, Elevated circulating hepatic transaminase concentration, I...	OMIM:607765
Immunoerythromyeloid Hypoplasia	Erythroid hypoplasia, Decreased circulating IgG level, Absent leukocyte alkaline phosphatase	OMIM:242880
Arrhythmogenic Right Ventricular Dysplasia, Familial, 13	Ventricular tachycardia, First degree atrioventricular block, Left bundle branch block	OMIM:615616
Activated Pi3K-Delta Syndrome	Pneumonia, Recurrent tonsillitis, Failure to thrive, Recurrent otitis media, Decreased circulatin...	ORPHA:397596
Epidermolysis Bullosa With Diaphragmatic Hernia	Neonatal death	OMIM:226735
Hypohidrotic Ectodermal Dysplasia With Immunodeficiency	Decreased circulating IgG level, Inflammation of the large intestine, Eczematoid dermatitis, Chro...	ORPHA:98813
Ataxia-Photosensitivity-Short Stature Syndrome	Dry skin, Cutaneous photosensitivity, Urticaria	ORPHA:1184
Immunodeficiency, Common Variable, 2	Decreased circulating IgG level, Recurrent pneumonia, Abnormal T cell count, Impaired T cell func...	OMIM:240500
Cholestasis, Progressive Familial Intrahepatic, 10	Hypoalbuminemia, Elevated gamma-glutamyltransferase level, Portal fibrosis, Failure to thrive, In...	OMIM:619868
Boutonneuse Fever	Elevated circulating hepatic transaminase concentration, Cervical lymphadenopathy, Leukopenia, Sk...	ORPHA:83313
Cutaneous Small Vessel Vasculitis	Erythema, Cutis marmorata, Purpura, Urticaria	ORPHA:889
Cardiomyopathy, Familial Hypertrophic, 14	Congestive heart failure, Hypertrophic cardiomyopathy, Severely reduced left ventricular ejection...	OMIM:613251
Lethal Congenital Contracture Syndrome 3	Neonatal death	OMIM:611369
Reticuloendotheliosis, X-Linked	Anemia, Jaundice, Hepatosplenomegaly, Lymphadenopathy	OMIM:312500
Congenital Heart Defects, Multiple Types, 3	Atrioventricular block, Atrioventricular dissociation, Atrial fibrillation, Tachycardia, Right bu...	OMIM:614954
Ras-Associated Autoimmune Leukoproliferative Disorder	Recurrent respiratory infections, Pancytopenia, Splenomegaly, Follicular hyperplasia, Increased c...	OMIM:614470
Dermatitis, Atopic	Dry skin, Facial erythema, Pallor, Ichthyosis	OMIM:603165
Familial Hemophagocytic Lymphohistiocytosis	Hemophagocytosis, Erythroderma, Neutropenia, Reduced natural killer cell activity, Hepatomegaly, ...	ORPHA:540
Arthrogryposis Multiplex Congenita 6	Akinesia, Death in childhood, Death in infancy, Neonatal death	OMIM:619334
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome	Inflammatory abnormality of the skin, Increased circulating IgE level, Psoriasiform dermatitis, C...	ORPHA:37042
Cutaneous Mastocytoma	Erythema, Thickened skin, Telangiectasia macularis eruptiva perstans, Dermatographic urticaria, A...	ORPHA:79455
Hyper-Ige Syndrome 2, Autosomal Recessive, With Recurrent Infections	Allergic rhinitis, Recurrent otitis media, Molluscum contagiosum, Increased circulating IgE level...	OMIM:243700
Immunodeficiency 105	Decreased circulating IgG level, Reduced natural killer cell count, Absence of lymph node germina...	OMIM:619924
Microsporidiosis	Lymphadenitis, Abnormality of the spleen, Decreased proportion of CD4-positive helper T cells, Ke...	ORPHA:2552
Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency	Inflammation of the large intestine, Psoriasiform dermatitis, Hepatomegaly, Recurrent lower respi...	ORPHA:436159
Proteasome-Associated Autoinflammatory Syndrome 3	Elevated circulating hepatic transaminase concentration, Failure to thrive, Lymphopenia, Skin ras...	OMIM:617591
Epidermolysis Bullosa Simplex With Circinate Migratory Erythema	Parakeratosis, Skin vesicle, Erythema migrans, Skin fragility with non-scarring blistering	ORPHA:158681
Chronic Hiccup	Abnormal eating behavior, Dehydration	ORPHA:396
Arrhythmogenic Right Ventricular Dysplasia, Familial, 14	Palpitations, Premature ventricular contraction, Ventricular tachycardia, Left bundle branch bloc...	OMIM:618920
Autosomal Agammaglobulinemia	Bronchiectasis, Hepatitis, Failure to thrive, Osteomyelitis, Skin rash, Agammaglobulinemia, Arthr...	ORPHA:33110
Quinquaud Folliculitis Decalvans	Erythema	ORPHA:346
Neutropenia, Severe Congenital, 5, Autosomal Recessive	Failure to thrive, Extramedullary hematopoiesis, Leukopenia, Splenomegaly, Increased circulating ...	OMIM:615285
Atrial Fibrillation, Familial, 11	Atrial fibrillation, Reduced left ventricular ejection fraction, Prolonged QRS complex, Prolonged...	OMIM:614049
Vohwinkel Syndrome, Variant Form	Orthokeratosis, Honeycomb palmoplantar hyperkeratosis, Hypergranulosis, Parakeratosis, Hyperkerat...	OMIM:604117
Localized Dystrophic Epidermolysis Bullosa, Acral Form	Erythema, Telangiectasia, Palmoplantar hyperkeratosis, Fragile skin, Cutaneous photosensitivity, ...	ORPHA:158673
Cardiomyopathy, Familial Hypertrophic, 6	Aborted sudden cardiac death, Atrioventricular block, Congestive heart failure, Hypertrophic card...	OMIM:600858
Thyrotropin-Releasing Hormone Deficiency	Dry skin	OMIM:275120
Pyknoachondrogenesis	Stillbirth	OMIM:265880
Sjögren-Larsson Syndrome	Erythema, Dry skin, Ichthyosis, Hyperkeratosis, Urticaria	ORPHA:816
Long Qt Syndrome 10	Atrioventricular block, T-wave alternans, Prolonged QT interval, Atrial fibrillation, Sudden card...	OMIM:611819
Immunodeficiency 32A	Granuloma, Lymphadenitis, Lymphadenopathy	OMIM:614893
Renin-Angiotensin-Aldosterone System-Blocker-Induced Angioedema	Facial edema, Erythema, Angioedema, Tongue edema, Laryngeal edema, Palpebral edema, Pharyngeal edema	ORPHA:100057
Immunodeficiency 113 With Autoimmunity And Autoinflammation	Minimal change glomerulonephritis, Intraalveolar phospholipid accumulation, Hepatitis, Eczematoid...	OMIM:620565
Hydroa Vacciniforme	Erythema, Telangiectasia of the skin, Cutaneous photosensitivity, Hydroa vacciniforme	ORPHA:330058
Cardiomyopathy, Familial Hypertrophic, 16	Hypertrophic cardiomyopathy, Reduced left ventricular ejection fraction, Palpitations, Syncope, V...	OMIM:613838
Fetal Cytomegalovirus Syndrome	Elevated circulating hepatic transaminase concentration, Hepatitis, Splenomegaly, Hepatomegaly, T...	ORPHA:294
Maculopapular Cutaneous Mastocytosis	Erythema, Dermatographic urticaria, Generalized abnormality of skin, Darier's sign, Flushing	ORPHA:79457
Portal Hypertension, Noncirrhotic, 1	Hepatomegaly, Elevated circulating hepatic transaminase concentration, Portal hypertension, Splen...	OMIM:617068
Neutropenia-Monocytopenia-Deafness Syndrome	Abnormality of neutrophils, Abnormal macrophage morphology	ORPHA:2690
Keratosis Pilaris Atrophicans	Erythema	OMIM:604093
Palmoplantar Keratoderma And Congenital Alopecia 1	Plantar hyperkeratosis, Palmoplantar erythema, Palmoplantar keratoderma, Epidermal hyperkeratosis	OMIM:104100
Neonatal Lupus Erythematosus	Hepatic failure, Elevated circulating hepatic transaminase concentration, Aplastic anemia, Pancyt...	ORPHA:398124
Immunodeficiency 114, Folate-Responsive	Atopic dermatitis, Decreased circulating IgG level, Increased circulating ferritin concentration,...	OMIM:620603
Hepatic Venoocclusive Disease With Immunodeficiency	Decreased circulating IgG level, Abnormality of the liver, Absence of lymph node germinal center	OMIM:235550
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome	Anemia, Hepatomegaly, Splenomegaly, Persistence of hemoglobin F	ORPHA:46532
Autoimmune Hepatitis	Inflammation of the large intestine, Elevated circulating hepatic transaminase concentration, Inc...	ORPHA:2137
Schnitzler Syndrome	Leukocytosis, Skin rash, Splenomegaly, Hepatomegaly, Lymphadenopathy, Arthritis, Anemia, Pruritus...	ORPHA:37748
Immunodeficiency 75 With Lymphoproliferation	Hepatosplenomegaly, Follicular hyperplasia, Decreased proportion of class-switched memory B cells...	OMIM:619126
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation	Atrophic gastritis, Decreased circulating IgG level, Recurrent upper respiratory tract infections...	OMIM:616100
Cardiomyopathy, Dilated, With Woolly Hair, Keratoderma, And Tooth Agenesis	Erythema, Palmoplantar keratoderma, Ichthyosis, Parakeratosis, Hyperkeratosis	OMIM:615821
Immunodeficiency 10	Decreased circulating IgG level, Recurrent pneumonia, Recurrent otitis media, Decreased circulati...	OMIM:612783
Ichthyosis, Congenital, Autosomal Recessive 6	Orthokeratosis, Palmoplantar keratoderma, Dry skin, Parakeratosis, Scaling skin, Generalized icht...	OMIM:612281
Griscelli Syndrome, Type 2	Silver-gray hair, Hypopigmentation of the skin, Hemophagocytosis, Reduced delayed hypersensitivit...	OMIM:607624
Familial Cold Urticaria	Erythema, Polydipsia, Dehydration, Urticaria	ORPHA:47045
Hyper-Ige Syndrome 5, Autosomal Recessive, With Recurrent Infections	Atopic dermatitis, Decreased circulating IgG level, Recurrent upper respiratory tract infections,...	OMIM:618944
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease	Reduced natural killer cell count, Hepatic failure, Elevated circulating hepatic transaminase con...	ORPHA:158057
Bile Acid Synthesis Defect, Congenital, 3	Hepatic bridging fibrosis, Intrahepatic cholestasis, Hepatic failure, Hepatitis, Failure to thriv...	OMIM:613812
Sinoatrial Node Dysfunction And Deafness	Increased heart rate variability, Syncope, Abnormal QRS complex, Bradycardia	OMIM:614896
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency	Recurrent pneumonia, Inflammatory abnormality of the skin, Abnormality of humoral immunity, Absen...	ORPHA:277
Erythrokeratodermia Variabilis	Erythema, Dry skin, Patchy palmoplantar hyperkeratosis, Hyperkeratosis, Cutaneous photosensitivity	ORPHA:317
Graft Versus Host Disease	Pneumonia, Inflammatory abnormality of the skin, Elevated circulating hepatic transaminase concen...	ORPHA:39812
Igg4-Related Pachymeningitis	Nephritis, Lymphadenitis, Parotitis, Increased circulating IgG4 level, Reduced circulating comple...	ORPHA:449427
Recessive X-Linked Ichthyosis	Dry skin, Hyperkeratosis, Ichthyosis	ORPHA:461
Alpha-Heavy Chain Disease	Ascites, Splenomegaly, Hypocalcemia, Hepatomegaly, Dysgammaglobulinemia, Lymphadenopathy, Anemia	ORPHA:100025
Psoriasis 2	Parakeratosis, Hyperkeratosis, Scaling skin	OMIM:602723
Q Fever	Hepatosplenomegaly, Increased circulating antibody level, Weight loss, Hepatomegaly, Endocarditis...	ORPHA:781
Isolated Agammaglobulinemia	Pneumonia, Failure to thrive, Recurrent respiratory infections, Abnormal lymphocyte morphology, O...	ORPHA:229717
Acrogeria	Skin ulcer, Excessive wrinkled skin, Telangiectasia of the skin, Prematurely aged appearance, Thi...	ORPHA:2500
Cardiomyopathy, Familial Hypertrophic, 26	Left anterior fascicular block, Atrioventricular block, Congestive heart failure, Hypertrophic ca...	OMIM:617047
Night Blindness, Congenital Stationary, Type 1C	Dry skin	OMIM:613216
Immunodeficiency 25	Recurrent pneumonia, Increased circulating IgE level, Complete or near-complete absence of specif...	OMIM:610163
Telangiectasia, Hereditary Hemorrhagic, Type 5	Telangiectasia, Elevated circulating hepatic transaminase concentration, Portal hypertension, Spo...	OMIM:615506
Hemophagocytic Lymphohistiocytosis, Familial, 2	Hemophagocytosis, Hepatosplenomegaly, Pancytopenia, Reduced natural killer cell activity, Hepatom...	OMIM:603553
Huriez Syndrome	Dry skin, Lack of skin elasticity	ORPHA:384
Congenital Enterovirus Infection	Hypoalbuminemia, Hepatic failure, Fetal ascites, Hepatitis, Cholestasis, Leukopenia, Leukocytosis...	ORPHA:292
Hemoglobin H Disease	HbH hemoglobin, Splenomegaly, Hepatomegaly, Reduced alpha/beta synthesis ratio, Hemolytic anemia	OMIM:613978
Granulomatous Slack Skin	Erythema, Cutis laxa, Redundant skin	ORPHA:33111
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema	Cholelithiasis, Increased mean corpuscular hemoglobin concentration, Hepatitis, Increased circula...	OMIM:194380
Ichthyosis Hystrix Of Curth-Macklin	Diffuse palmoplantar hyperkeratosis, Hyperkeratosis, Ichthyosis	ORPHA:79503
Left Ventricular Noncompaction 10	Dilated cardiomyopathy, Congestive heart failure, Syncope, Pulmonary arterial hypertension, Incre...	OMIM:615396
Immunodeficiency 89 And Autoimmunity	Reduced circulating interleukin 17A concentration, Reduced circulating interleukin 27 concentrati...	OMIM:619632
Complement Component C1S Deficiency	Hashimoto thyroiditis, Abnormality of complement system, Hepatitis	OMIM:613783
Ataxia-Pancytopenia Syndrome	Acute myelomonocytic leukemia, Recurrent respiratory infections, Pancytopenia, Abnormal macrophag...	ORPHA:2585
Congenital Bile Acid Synthesis Defect Type 2	Giant cell hepatitis, Hepatic failure, Elevated circulating hepatic transaminase concentration, I...	ORPHA:79303
Fetal Akinesia Syndrome, X-Linked	Hypokinesia, Stillbirth	OMIM:300073
Erythrokeratoderma ''En Cocardes''	Hyperkeratosis	ORPHA:315
Mu-Heavy Chain Disease	Abnormal B cell count, Splenomegaly, Increased circulating antibody level, Hepatomegaly, Weight l...	ORPHA:100024
Indolent Systemic Mastocytosis	Mastocytosis, Elevated total serum tryptase, Increased proportion of CD25+ mast cells, Splenomega...	ORPHA:98848
Corticosteroid-Sensitive Aseptic Abscess Syndrome	Elevated circulating hepatic transaminase concentration, Brain abscess, Abnormal lymph node morph...	ORPHA:54251
Omenn Syndrome	Pneumonia, Thickened skin, Failure to thrive, Splenomegaly, Hypoplasia of the thymus, Eosinophili...	OMIM:603554
Tularemia	Pneumonia, Brain abscess, Cutaneous abscess, Cervical lymphadenopathy, Abnormal nasopharyngeal ad...	ORPHA:3392
Cholesteryl Ester Storage Disease	Hepatic bridging fibrosis, Elevated gamma-glutamyltransferase level, Acute hepatic failure, Hepat...	OMIM:278000
Transaldolase Deficiency	Telangiectasia, Hydrops fetalis, Edema, Premature skin wrinkling	ORPHA:101028
Sea-Blue Histiocyte Disease	Sea-blue histiocytosis, Elevated circulating aspartate aminotransferase concentration, Splenomega...	OMIM:269600
Lymphoproliferative Syndrome 2	Recurrent pneumonia, Decreased lymphocyte proliferation in response to mitogen, Aplastic anemia, ...	OMIM:615122
Muscular Dystrophy, Cardiac Type	Abnormal EKG, Cardiomyopathy, Elevated circulating creatine kinase concentration	OMIM:309930
Pgm3-Cdg	Allergic rhinitis, Abnormal CD4:CD8 ratio, Increased circulating IgE level, Lymphopenia, Esophagi...	ORPHA:443811
Agammaglobulinemia 8B, Autosomal Recessive	Decreased circulating IgG level, Recurrent pneumonia, Partial absence of specific antibody respon...	OMIM:619824
Diffuse Palmoplantar Keratoderma-Acrocyanosis Syndrome	Acrocyanosis	ORPHA:86918
Lymphatic Filariasis	Lymphadenitis, Hypereosinophilia, Abnormality of the lymphatic system, Knee osteoarthritis, Orchi...	ORPHA:2035
Heme Oxygenase 1 Deficiency	Nephritis, Diffuse alveolar hemorrhage, Increased circulating lactate dehydrogenase concentration...	OMIM:614034
Lymphatic Malformation 4	Hyperkeratosis, Prominent superficial veins, Pedal edema, Lymphedema	OMIM:615907
Hemophagocytic Lymphohistiocytosis, Familial, 1	Hypoalbuminemia, Hemophagocytosis, Failure to thrive, Increased circulating ferritin concentratio...	OMIM:267700
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Intermediate Form	Plantar hyperkeratosis, Hyperkeratosis, Palmar hyperkeratosis, Skin fragility with non-scarring b...	ORPHA:79399
Peeling Skin Syndrome 6	Parakeratosis, Scaling skin, Orthokeratosis, Dry skin	OMIM:618084
Atrial Fibrillation, Familial, 18	Third degree atrioventricular block, Paroxysmal atrial fibrillation, Palpitations, Permanent atri...	OMIM:617280
T-Cell Immunodeficiency With Thymic Aplasia	Pneumonia, Decreased lymphocyte proliferation in response to mitogen, Eczematoid dermatitis, Fail...	ORPHA:83471
Drug Reaction With Eosinophilia And Systemic Symptoms	Elevated circulating hepatic transaminase concentration, Hepatitis, Acute hepatic failure, Inters...	ORPHA:139402
Glycogen Storage Disease Xv	T-wave inversion, Paroxysmal ventricular tachycardia, Ventricular fibrillation, ST segment elevat...	OMIM:613507
Keratosis Linearis With Ichthyosis Congenita And Sclerosing Keratoderma	Honeycomb palmoplantar hyperkeratosis, Ichthyosis, Linear arrays of macular hyperkeratoses in fle...	OMIM:601952
Vulvovaginal Gingival Syndrome	Parakeratosis, Erythema	ORPHA:83453
Cardiomyopathy, Familial Hypertrophic, 11	Left anterior fascicular block, Atrial flutter, Congestive heart failure, Hypertrophic cardiomyop...	OMIM:612098
Cardiomyopathy, Familial Hypertrophic, 13	Left anterior fascicular block, Concentric hypertrophic cardiomyopathy, Hypertrophic cardiomyopat...	OMIM:613243
Immunodeficiency 18	Reduced natural killer cell count, Recurrent pneumonia, Recurrent otitis media, Lymphopenia, Abno...	OMIM:615615
Immunodeficiency, Common Variable, 8, With Autoimmunity	Inflammation of the large intestine, Recurrent otitis media, Pancytopenia, Erythema nodosum, Auto...	OMIM:614700
Ichthyosis, Spastic Quadriplegia, And Impaired Intellectual Development	Erythema, Dry skin, Ichthyosis, Scaling skin, Hyperkeratosis, Congenital nonbullous ichthyosiform...	OMIM:614457
Insulin-Resistance Syndrome Type A	Hyperkeratosis	ORPHA:2297
Immunodeficiency 7	Failure to thrive, Recurrent otitis media, Vitiligo, Hypereosinophilia, Splenomegaly, Autoimmune ...	OMIM:615387
Histiocytosis, Progressive Mucinous	Mucinous histiocytosis	OMIM:142630
Congenital Myopathy 9A	Akinesia, Death in infancy	OMIM:618822
Venular Insufficiency, Systemic	Cyanosis	OMIM:192700
Sulfhemoglobinemia, Congenital	Cyanosis	OMIM:185460
Focal Cortical Dysplasia, Type Ii	Astrocytosis	OMIM:607341
Gilbert Syndrome	Jaundice, Hepatic failure, Elevated circulating hepatic transaminase concentration	OMIM:143500
Acne Inversa, Familial, 3	Chronic furunculosis, Perifolliculitis, Acne inversa, Recurrent cutaneous abscess formation	OMIM:613737
Pulmonary Nodular Lymphoid Hyperplasia	Nodular pattern on pulmonary HRCT, Mediastinal lymphadenopathy, Follicular hyperplasia, Plasmacyt...	ORPHA:60026
Atrial Standstill	Atrial standstill, Abnormal P wave, Cardiomyopathy, Congestive heart failure, Ventricular escape ...	ORPHA:1344
Brucellosis	Arteritis, Sacroiliac arthritis, Hypersplenism, Knee osteoarthritis, Weight loss, Glomerulonephri...	ORPHA:1304
Autoimmune Lymphoproliferative Syndrome	Increased circulating IgE level, Lymphopenia, Hypersplenism, Decreased proportion of CD4-positive...	ORPHA:3261
Craniosynostosis-Impaired Intellectual Development-Clefting Syndrome	Dry skin	OMIM:218650
Hypertriglyceridemia, Transient Infantile	Hepatic fibrosis, Elevated gamma-glutamyltransferase level, Elevated circulating hepatic transami...	OMIM:614480
Nephropathy, Progressive Tubulointerstitial, With Cholestatic Liver Disease	Cholestatic liver disease, Elevated circulating hepatic transaminase concentration	OMIM:602114
Dermoodontodysplasia	Dry skin, Ectodermal dysplasia, Thin skin	ORPHA:1660
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome	Splenomegaly, Abnormal hemoglobin, Thrombocytopenia, Anemia, Abnormal platelet function	ORPHA:231393
Felty Syndrome	Synovitis, Weight loss, Neutropenia, Recurrent pharyngitis, Hepatomegaly, Chronic otitis media, A...	ORPHA:47612
Muscular Dystrophy, Becker Type	Arrhythmia, Abnormal EKG, Cardiomyopathy, Elevated circulating creatine kinase concentration	OMIM:300376
Hemoglobin E-Beta-Thalassemia Syndrome	Anemia, Abnormal hemoglobin, Increased circulating ferritin concentration	ORPHA:231249
Cholestasis, Progressive Familial Intrahepatic, 12	Cholestasis, Elevated circulating aspartate aminotransferase concentration, Hyperbilirubinemia, S...	OMIM:620010
Cardiomyopathy, Familial Hypertrophic, 10	Systolic anterior motion of the mitral valve, Hypertrophic cardiomyopathy, Palpitations, Supraven...	OMIM:608758
Spinocerebellar Ataxia 21	Akinesia, Limb ataxia, Gait ataxia, Aggressive behavior, Ataxia, Impulsivity, Progressive cerebel...	OMIM:607454
Peeling Skin With Leukonychia, Acral Punctate Keratoses, Cheilitis, And Knuckle Pads	Dry skin, Fragile skin, Follicular hyperkeratosis, Scaling skin, Punctate palmoplantar hyperkerat...	OMIM:616295
Omenn Syndrome	Pneumonia, Thickened skin, Failure to thrive, Abnormal lymphocyte morphology, Leukocytosis, Splen...	ORPHA:39041
Chilblain Lupus	Discoid lupus rash, Inflammatory abnormality of the skin, Chronic myelomonocytic leukemia, Malar ...	ORPHA:90280
Mantle Cell Lymphoma	Weight loss, Splenomegaly, Lymphadenopathy	ORPHA:52416
Agammaglobulinemia, X-Linked	Recurrent otitis media, Lymph node hypoplasia, Prostatitis, Neutropenia, Recurrent lower respirat...	OMIM:300755
Cyanosis, Transient Neonatal	Reticulocytosis, Cyanosis, Methemoglobinemia, Anemia, Jaundice	OMIM:613977
Mendelian Susceptibility To Mycobacterial Diseases Due To Complete Il12Rb1 Deficiency	Pneumonia, Abnormal circulating interleukin concentration, Salmonella osteomyelitis, Lymphadenitis	ORPHA:319552
Hepatitis Delta	Hepatic failure, Hepatitis, Elevated circulating aspartate aminotransferase concentration, Cirrho...	ORPHA:402823
Bullous Dystrophy, Hereditary Macular Type	Acrocyanosis, Death in childhood	OMIM:302000
Congenital Toxoplasmosis	Elevated circulating hepatic transaminase concentration, Ascites, Failure to thrive in infancy, A...	ORPHA:858
Hereditary Progressive Mucinous Histiocytosis	Pruritus, Mucinous histiocytosis	ORPHA:158025
Avian Influenza	Pneumonia, Hypoalbuminemia, Myelitis, Elevated circulating hepatic transaminase concentration, In...	ORPHA:454836
Immunodeficiency 82 With Systemic Inflammation	Decreased circulating total IgG, Pustular rash, Recurrent otitis media, Follicular hyperplasia, W...	OMIM:619381
Platelet-Activating Factor Acetylhydrolase Deficiency	Platelet-activating factor acetylhydrolase deficiency	OMIM:614278
Griscelli Syndrome Type 2	Iris hypopigmentation, Hemophagocytosis, Premature graying of hair, Partial albinism, Pancytopeni...	ORPHA:79477
Mhc Class Ii Deficiency 1	Cutaneous anergy, Recurrent upper respiratory tract infections, Chronic mucocutaneous candidiasis...	OMIM:209920
Cardiomyopathy, Dilated, 2G	Aortic regurgitation, Dilated cardiomyopathy, Cardiogenic shock, Tricuspid regurgitation, Multifo...	OMIM:619897
Irida Syndrome	Hyperkeratosis, Ichthyosis, Pallor	ORPHA:209981
Kerion Celsi	Recurrent cutaneous abscess formation, Inflammatory abnormality of the skin, Recurrent skin infec...	ORPHA:499
Pulmonary Hypertension, Primary, 4	Pulmonary arterial hypertension with lack of acute response to NO challenge, Atrial flutter, Incr...	OMIM:615344
Bullous Impetigo	Erythema	ORPHA:36237
Papular Xanthoma	Histiocytosis	ORPHA:158008
Beta-Thalassemia, Dominant Inclusion Body Type	Persistence of hemoglobin F, Microcytic anemia, Splenomegaly, Erythrocyte inclusion bodies, Hepat...	OMIM:603902
Cholestasis-Lymphedema Syndrome	Elevated circulating hepatic transaminase concentration, Erysipelas, Neonatal cholestatic liver d...	OMIM:214900
Congenital Disorder Of Glycosylation, Type Iil	Elevated gamma-glutamyltransferase level, Inflammation of the large intestine, Elevated circulati...	OMIM:614576
Hemochromatosis, Type 2B	Hepatic fibrosis, Increased circulating iron concentration, Elevated circulating hepatic transami...	OMIM:613313
Cardiomyopathy, Familial Hypertrophic, 2	Hypertrophic cardiomyopathy, Reduced left ventricular ejection fraction, Angina pectoris, Atrial ...	OMIM:115195
Hyperbilirubinemia, Shunt, Primary	Erythroid hyperplasia, Hyperbilirubinemia, Splenomegaly, Anemia of inadequate production, Reticul...	OMIM:237800
Porphyria Cutanea Tarda	Periportal fibrosis, Elevated circulating hepatic transaminase concentration, Portal inflammation...	ORPHA:101330
Generalized Eruptive Histiocytosis	Elevated total serum tryptase, Spotty hyperpigmentation, Hypereosinophilia, Leukemia, Pruritus, M...	ORPHA:157991
Familial Cold Autoinflammatory Syndrome 2	Recurrent aphthous stomatitis, Leukocytosis, Skin rash, Splenomegaly, Lymphadenopathy, Arthritis,...	OMIM:611762
Manganese Poisoning	Inappropriate laughter, Akinesia, Aggressive behavior, Gait disturbance, Compulsive behaviors, Hy...	ORPHA:306682
Immunodeficiency 103, Susceptibility To Fungal Infections	Decreased circulating iron concentration, Increased circulating IgE level, Hypereosinophilia, Abn...	OMIM:212050
Long Qt Syndrome 2	Notched T wave, Torsade de pointes, Syncope, Sudden cardiac death, Prolonged QT interval, Ventric...	OMIM:613688
Transgrediens Et Progrediens Palmoplantar Keratoderma	Thickened skin, Diffuse palmoplantar hyperkeratosis, Facial erythema, Palmar hyperkeratosis, Plan...	ORPHA:495
Poikiloderma With Neutropenia	Recurrent pneumonia, Increased circulating lactate dehydrogenase concentration, Palmoplantar kera...	OMIM:604173
Aicardi-Goutieres Syndrome 3	Hepatosplenomegaly, Elevated circulating hepatic transaminase concentration, Chilblains, Thromboc...	OMIM:610329
Combined Immunodeficiency, X-Linked	Pneumonia, Decreased circulating IgG level, Abnormal T cell count, Decreased proportion of CD8-po...	OMIM:312863
Riddle Syndrome	Dry skin	OMIM:611943
Sick Sinus Syndrome 3, Susceptibility To	Sick sinus syndrome	OMIM:614090
Familial Reactive Perforating Collagenosis	Hyperkeratotic papule, Inflammatory abnormality of the skin, Spotty hyperpigmentation, Maculopapu...	ORPHA:79147
Legionnaires Disease	Bone marrow hypocellularity, Abnormal lung morphology, Hepatitis, Lymphopenia, Abnormal pleura mo...	ORPHA:549
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome	Decreased proportion of memory B cells, Hepatosplenomegaly, Pancytopenia, Pulmonary hemorrhage, A...	ORPHA:79124
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis	Pneumonia, Plasmacytosis, Lymphopenia, Autoimmune hemolytic anemia, Increased circulating antibod...	OMIM:247800
Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia	Decreased circulating IgG level, Lymphopenia, Leukopenia, Splenomegaly, Decreased circulating tot...	OMIM:620210
Atrial Septal Defect, Sinus Venosus Type	Junctional ectopic tachycardia, Paradoxical splitting of the second heart sound, Atrial flutter, ...	ORPHA:99105
Non-Acquired Isolated Growth Hormone Deficiency	Prolonged neonatal jaundice, Premature skin wrinkling	ORPHA:631
Reticular Dysgenesis	Aplasia/Hypoplasia of the thymus, Failure to thrive, Recurrent respiratory infections, Leukopenia...	ORPHA:33355
Autoinflammatory-Pancytopenia Syndrome	Cholestatic liver disease, Hepatic fibrosis, Granuloma, Hemophagocytosis, Failure to thrive, Hepa...	OMIM:619858
Immunodeficiency 50	Eczematoid dermatitis, Lymphopenia, Neutropenia, Recurrent respiratory infections, Decreased circ...	OMIM:300988
Parana Hard Skin Syndrome	Thickened skin, Hyperkeratosis	ORPHA:2812
Congenital Disorder Of Glycosylation, Type Iio	Cholestatic liver disease, Hepatic failure, Elevated circulating hepatic transaminase concentrati...	OMIM:616828
Familial Cold Autoinflammatory Syndrome 3	Erythema, Dermatographic urticaria, Cold urticaria, Angioedema	OMIM:614468
Sick Sinus Syndrome 1	Atrioventricular block, Absent P wave, Ventricular escape rhythm, Sinus bradycardia, Prolonged QT...	OMIM:608567
Aggressive Systemic Mastocytosis	Elevated total serum tryptase, Decreased liver function, Ascites, Pancytopenia, Hepatosplenomegal...	ORPHA:98850
Primary Biliary Cholangitis	Elevated gamma-glutamyltransferase level, Xanthelasma, Elevated circulating alkaline phosphatase ...	ORPHA:186
Immunodeficiency 98 With Autoinflammation, X-Linked	Bone marrow hypocellularity, Decreased circulating IgG level, Hemophagocytosis, Agranulocytosis, ...	OMIM:301078
Cardiomyopathy, Familial Hypertrophic, 15	Apical hypertrophic cardiomyopathy, Congestive heart failure, Hypertrophic cardiomyopathy, Hyperd...	OMIM:613255
Acrokeratosis Verruciformis	Acantholysis, Hyperkeratosis, Punctate palmoplantar hyperkeratosis	OMIM:101900
Leukocyte Adhesion Deficiency, Type Iii	Extramedullary hematopoiesis, Abnormal lymph node morphology, Hepatosplenomegaly, Leukocytosis, S...	OMIM:612840
Niemann-Pick Disease, Type A	Failure to thrive, Sea-blue histiocytosis, Microcytic anemia, Ascites, Elevated circulating aspar...	OMIM:257200
Ectodermal Dysplasia-Syndactyly Syndrome 2	Follicular hyperkeratosis, Ectodermal dysplasia, Palmoplantar keratoderma, Congenital bullous ich...	OMIM:613576
Pruritic Urticarial Papules And Plaques Of Pregnancy	Striae distensae, Parakeratosis, Palmoplantar erythema, Facial erythema, Skin vesicle	ORPHA:64745
Muscular Hypertonia, Lethal	Hypokinesia, Death in infancy	OMIM:254120
Preeclampsia/Eclampsia 1	Elevated circulating hepatic transaminase concentration, Hypertension, Thrombocytopenia	OMIM:189800
Immunodeficiency 76	Recurrent pneumonia, Lymphopenia, Splenomegaly, Recurrent bronchiolitis, Lymphadenopathy, B lymph...	OMIM:619164
Sézary Syndrome	Irregular hyperpigmentation, Palmoplantar keratoderma, Abnormal lymphocyte morphology, Abnormal p...	ORPHA:3162
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation	Pneumonia, Abnormally low T cell receptor excision circle level, Recurrent upper respiratory trac...	OMIM:602450
Focal Palmoplantar And Gingival Keratoderma	Subungual hyperkeratosis, Palmoplantar keratoderma, Focal friction-related palmoplantar hyperkera...	ORPHA:2200
Nocardiosis	Pneumonia, Lymphadenitis, Cutaneous abscess, Keratitis, Liver abscess, Brain abscess, Osteomyelit...	ORPHA:31204
Mevalonic Aciduria	Elevated circulating hepatic transaminase concentration, Increased circulating lactate dehydrogen...	OMIM:610377
Autoinflammation With Infantile Enterocolitis	Hypoalbuminemia, Reduced natural killer cell count, Diffuse alveolar hemorrhage, Failure to thriv...	OMIM:616050
Pityriasis Rubra Pilaris	Subungual hyperkeratosis, Orthokeratosis, Palmoplantar keratoderma, Hypergranulosis, Parakeratosis	OMIM:173200
Pulmonary Hypertension, Primary, 3	Elevated pulmonary artery pressure, Pulmonary arterial hypertension, Increased pulmonary vascular...	OMIM:615343
Prolidase Deficiency	Recurrent pneumonia, Eczematoid dermatitis, Failure to thrive, Elevated circulating aspartate ami...	OMIM:170100
Atypical Juvenile Parkinsonism	Short stepped shuffling gait, Shuffling gait, Inability to walk, Akinesia, Gait ataxia	ORPHA:391411
Pyogenic Sterile Arthritis, Pyoderma Gangrenosum, And Acne	Microcytic anemia, Hepatosplenomegaly, Pancytopenia, Arthritis, Thrombocytosis, Elevated circulat...	OMIM:604416
Primary Erythromelalgia	Erythema	ORPHA:90026
Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency	Allergic rhinitis, Rheumatoid arthritis, Recurrent otitis media, Psoriasiform dermatitis, Recurre...	ORPHA:183675
Majeed Syndrome	Inflammatory abnormality of the skin, Failure to thrive, Microcytic anemia, Osteomyelitis, Hepato...	OMIM:609628
Perching Syndrome	Dysphagia, Cyanosis	OMIM:617055
Inflammatory Bowel Disease (Infantile Ulcerative Colitis) 31, Autosomal Recessive	Anemia, Elevated circulating C-reactive protein concentration, Leukocytosis, Ulcerative colitis	OMIM:619398
Kufor-Rakeb Syndrome	Hypokinesia, Akinesia, Aggressive behavior, Gait disturbance, Ataxia, Dysphagia	OMIM:606693
Aspergillosis	Pneumonia, Keratitis, Hepatitis, Increased circulating IgE level, Osteomyelitis, Pleural effusion...	ORPHA:1163
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis	Failure to thrive in infancy, Osteomyelitis, Skin rash, Splenomegaly, Abscess, Pustule, Elevated ...	OMIM:612852
Anemia, Sideroblastic, 3, Pyridoxine-Refractory	Elevated circulating hepatic transaminase concentration, Increased circulating ferritin concentra...	OMIM:616860
Brugada Syndrome 9	Prolonged QT interval, ST segment elevation, Palpitations, Presyncope	OMIM:616399
Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia	Recurrent pneumonia, Increased circulating lactate dehydrogenase concentration, Eczematoid dermat...	OMIM:617780
Cinca Syndrome	Hepatosplenomegaly, Leukocytosis, Skin rash, Eosinophilia, Lymphadenopathy, Arthritis, Elevated c...	OMIM:607115
Spinocerebellar Ataxia Type 21	Akinesia, Gait ataxia, Progressive cerebellar ataxia	ORPHA:98773
Porokeratosis 7, Multiple Types	Parakeratosis, Porokeratosis	OMIM:614714
Porokeratosis 1, Multiple Types	Parakeratosis, Porokeratosis	OMIM:175800
Aicardi-Goutieres Syndrome 6	Splenomegaly, Chilblains, Increased circulating Interferon-alpha concentration, Thrombocytopenia,...	OMIM:615010
Palmoplantar Keratoderma, Epidermolytic, 1	Plantar hyperkeratosis, Localized epidermolytic hyperkeratosis, Palmoplantar hyperkeratosis, Palm...	OMIM:144200
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity	Decreased lymphocyte proliferation in response to anti-CD3, Increased circulating IgE level, Hepa...	OMIM:606367
Immunodeficiency 23	Allergic rhinitis, Chronic mucocutaneous candidiasis, Eczematoid dermatitis, Failure to thrive, M...	OMIM:615816
Sick Sinus Syndrome 4	Atrioventricular block, Sinoatrial block, Paroxysmal atrial fibrillation, Abnormal QRS complex, A...	OMIM:619464
Ichthyosis, Congenital, Autosomal Recessive 2	Erythema, Palmoplantar keratoderma, Congenital ichthyosiform erythroderma, Hypergranulosis, Hyper...	OMIM:242100
Overhydrated Hereditary Stomatocytosis	Stomatocytosis, Increased mean corpuscular volume, Pulmonary embolism, Splenomegaly, Reticulocyto...	OMIM:185000
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency	Inflammatory abnormality of the skin, Increased circulating IgE level, Lymphopenia, Aplasia of th...	OMIM:102700
Emery-Dreifuss Muscular Dystrophy 2, Autosomal Dominant	Left anterior fascicular block, Dilated cardiomyopathy, Reduced left ventricular ejection fractio...	OMIM:181350
Galactosemia Iii	Failure to thrive, Splenomegaly, Decreased beta-galactosidase activity, Hepatomegaly, Jaundice, H...	OMIM:230350
Purine Nucleoside Phosphorylase Deficiency	Pneumonia, Hypouricemia, Decreased lymphocyte proliferation in response to mitogen, Recurrent upp...	OMIM:613179
Aicardi-Goutieres Syndrome 7	Atrophic gastritis, Pneumonia, Atopic dermatitis, Hepatitis, Increased circulating ferritin conce...	OMIM:615846
Centrifugal Lipodystrophy	Inflammatory abnormality of the skin, Lymphadenitis	ORPHA:90156
Epidermolytic Palmoplantar Keratoderma	Hypergranulosis, Diffuse palmoplantar hyperkeratosis, Palmoplantar hyperkeratosis, Palmar hyperke...	ORPHA:2199
Anemia, Congenital Dyserythropoietic, Type Iv	Persistence of hemoglobin F, Hepatosplenomegaly, Hyperbilirubinemia, Anemia of inadequate product...	OMIM:613673
Nodular Lymphocyte Predominant Hodgkin Lymphoma	Splenomegaly, Weight loss, Lymphadenopathy, Hepatomegaly, Pruritus	ORPHA:86893
Long Qt Syndrome 14	T-wave alternans, 2:1 atrioventricular block, Prolonged QT interval, Ventricular fibrillation, Ca...	OMIM:616247
Alpha-1-Antitrypsin Deficiency	Elevated circulating hepatic transaminase concentration, Reduced circulating alpha-1-antitrypsin ...	OMIM:613490
Common Variable Immunodeficiency	Pneumonia, Elevated circulating hepatic transaminase concentration, Recurrent respiratory infecti...	ORPHA:1572
Alpha-1-Antitrypsin Deficiency	Hepatic failure, Reduced circulating alpha-1-antitrypsin concentration, Hepatitis, Bronchitis, Ch...	ORPHA:60
Complement Component 4B Deficiency	Decreased circulating complement C4b concentration, Recurrent pneumonia, Recurrent otitis media, ...	OMIM:614379
Progressive Familial Heart Block, Type Ii	Atrioventricular block, Complete heart block with narrow QRS complexes, Sinus bradycardia, Syncop...	OMIM:140400
Sea-Blue Histiocytosis	Hypopigmentation of the skin, Sea-blue histiocytosis, Splenomegaly, Hyperpigmentation of the skin...	ORPHA:158029
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency	Splenomegaly, Decreased proportion of class-switched memory B cells, Glomerulonephritis, Lymphade...	OMIM:619375
Atrial Standstill 1	Atrial standstill, Paroxysmal atrial fibrillation, Atrial cardiomyopathy, Premature atrial contra...	OMIM:108770
Thrombophilia Due To Protein S Deficiency, Autosomal Dominant	Pulmonary embolism	OMIM:612336
Crigler-Najjar Syndrome, Type I	Jaundice, Elevated circulating hepatic transaminase concentration	OMIM:218800
Arthrogryposis, Renal Dysfunction, And Cholestasis 1	Cholestatic liver disease, Giant cell hepatitis, Elevated gamma-glutamyltransferase level, Elevat...	OMIM:208085
Spinocerebellar Ataxia Type 34	Dry skin, Urticaria	ORPHA:1955
Muscle Filaminopathy	Cardiomyopathy, Extremely elevated creatine kinase, Left ventricular diastolic dysfunction, Right...	ORPHA:171445
Congenital Disorder Of Glycosylation, Type Iih	Failure to thrive in infancy, Elevated circulating aspartate aminotransferase concentration, Inte...	OMIM:611182
Immunodeficiency 62	Decreased proportion of memory B cells, Decreased circulating IgG level, Recurrent upper respirat...	OMIM:618459
Dominant Beta-Thalassemia	Hepatic fibrosis, Abnormality of iron homeostasis, Reduced hemoglobin A, Extramedullary hematopoi...	ORPHA:231226
Ectodermal Dysplasia With Impaired Intellectual Development And Syndactyly	Dry skin, Ectodermal dysplasia	OMIM:600906
Pemphigus Foliaceus	Erythema, Psoriasiform dermatitis, Skin vesicle, Scaling skin, Acantholysis	ORPHA:79481
Melioidosis	Pneumonia, Unusual skin infection, Brain abscess, Cutaneous abscess, Foot osteomyelitis, Hepatiti...	ORPHA:31202
Trimethylaminuria	Anemia, Recurrent pneumonia, Splenomegaly, Neutropenia	OMIM:602079
T-Cell Lymphopenia, Infantile, With Or Without Nail Dystrophy, Autosomal Dominant	Pneumonia, Atopic dermatitis, Recurrent upper respiratory tract infections, Abnormally low T cell...	OMIM:618806
Ichthyosis, Congenital, Autosomal Recessive 5	Orthokeratosis, Palmoplantar keratoderma, White scaling skin, Parakeratosis, Congenital nonbullou...	OMIM:604777
Hemophagocytic Syndrome Associated With An Infection	Elevated circulating hepatic transaminase concentration, Hemophagocytosis, Increased circulating ...	ORPHA:158048
Verrucous Hemangioma	Hyperkeratotic papule, Inflammatory abnormality of the skin	ORPHA:464318
Microphthalmia, Syndromic 8	Premature skin wrinkling	OMIM:601349
Olmsted Syndrome, X-Linked	Subungual hyperkeratosis, Palmoplantar keratoderma, Parakeratosis, Palmoplantar hyperkeratosis, H...	OMIM:300918
Bacterial Toxic-Shock Syndrome	Abscess, Glomerulonephritis, Recurrent skin infections, Osteomyelitis, Elevated circulating creat...	ORPHA:36234
Harlequin Ichthyosis	Self-injurious behavior, Congenital ichthyosiform erythroderma, Ichthyosis, Hyperkeratosis, Dehyd...	ORPHA:457
Pfapa Syndrome	Splenomegaly, Infectious encephalitis, Weight loss, Lymphadenopathy, Arthritis, Recurrent pharyng...	ORPHA:42642
Autoinflammation With Episodic Fever And Lymphadenopathy	Recurrent tonsillitis, Microcytic anemia, Splenomegaly, Lymphadenopathy, Hepatomegaly	OMIM:618852
Lamellar Ichthyosis	Dry skin, Ichthyosis, Lack of skin elasticity, Hyperkeratosis, Dehydration	ORPHA:313
Hepatocellular Carcinoma	Micronodular cirrhosis, Subacute progressive viral hepatitis, Hepatocellular carcinoma	OMIM:114550
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome	Recurrent pneumonia, Abnormal CD4:CD8 ratio, Recurrent aphthous stomatitis, Splenomegaly, Abscess...	OMIM:150550
Parkinson Disease 17	Akinesia	OMIM:614203
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia	Abnormally low T cell receptor excision circle level, Decreased circulating IgG level, Cervical l...	OMIM:618987
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency	Increased circulating iron concentration, Reduced red cell pyruvate kinase level, Increased circu...	ORPHA:766
Thrombophilia Due To Protein C Deficiency, Autosomal Recessive	Vitreous hemorrhage, Pulmonary embolism	OMIM:612304
Lymphoproliferative Syndrome 3	Reduced natural killer cell count, Partial absence of specific antibody response to tetanus vacci...	OMIM:618261
Immunodeficiency With Hyper-Igm, Type 4	Recurrent upper respiratory tract infections, Absence of lymph node germinal center, Osteomyeliti...	OMIM:608184
Pomt2-Related Limb-Girdle Muscular Dystrophy R14	Left ventricular systolic dysfunction, Dilated cardiomyopathy, Right bundle branch block, Elevate...	ORPHA:206559
Neutropenia, Lethal Congenital, With Eosinophilia	Neonatal death	OMIM:257100
Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, And Calvarial Hyperostosis	Allergic rhinitis, Failure to thrive, Exocrine pancreatic insufficiency, Splenomegaly, Skin rash,...	OMIM:612714
Xeroderma Pigmentosum Variant	Telangiectasia, Dry skin, Cutaneous photosensitivity	ORPHA:90342
Neutropenia, Chronic Familial	Periodontitis, Neutropenia, Increased circulating antibody level	OMIM:162700
Perry Syndrome	Short stepped shuffling gait, Akinesia, Inappropriate behavior, Disinhibition	OMIM:168605
Tafro Syndrome	Increased circulating lactate dehydrogenase concentration, Increased circulating interleukin 6 co...	ORPHA:457077
Thrombophilia Due To Protein S Deficiency, Autosomal Recessive	Anemia, Pulmonary embolism, Cerebral hemorrhage	OMIM:614514
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome	Eczematoid dermatitis, Decreased proportion of CD8-positive T cells, Increased circulating IgE le...	OMIM:617241
Mitochondrial Complex I Deficiency, Nuclear Type 30	Redundant skin, Neonatal death	OMIM:301021
Aplasia Cutis Congenita	Erythema, Skin ulcer	ORPHA:1114
C1Q Deficiency 2	Discoid lupus rash, Atelectasis, Recurrent otitis media, Malar rash, Chilblains, Elevated circula...	OMIM:620321
Bile Acid Synthesis Defect, Congenital, 5	Hepatic fibrosis, Hepatic failure, Elevated circulating hepatic transaminase concentration, Porta...	OMIM:616278
Scapuloperoneal Myopathy, X-Linked Dominant	Right bundle branch block, Elevated circulating creatine kinase concentration	OMIM:300695
Carboxypeptidase N Deficiency	Angioedema, Urticaria	OMIM:212070
Ventricular Tachycardia, Catecholaminergic Polymorphic, 1, With Or Without Atrial Dysfunction And/Or Dilated Cardiomyopathy	Atrial standstill, Atrioventricular block, Dilated cardiomyopathy, Paroxysmal atrial fibrillation...	OMIM:604772
Pulmonary Venoocclusive Disease 1, Autosomal Dominant	Abnormally loud pulmonic component of the second heart sound, Pulmonary arterial hypertension, El...	OMIM:265450
Congenital Disorder Of Glycosylation, Type Iq	Elevated circulating hepatic transaminase concentration, Eczematoid dermatitis, Failure to thrive...	OMIM:612379
Long Qt Syndrome 6	Torsade de pointes, Syncope, Sudden cardiac death, Prolonged QT interval, Ventricular fibrillatio...	OMIM:613693
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss	Hepatic bridging fibrosis, Hepatic fibrosis, Cholestasis, Elevated circulating aspartate aminotra...	OMIM:619658
Disseminated Superficial Actinic Porokeratosis	Cutaneous photosensitivity, Porokeratosis	ORPHA:79152
Agammaglobulinemia 4, Autosomal Recessive	Decreased circulating IgG level, Recurrent pneumonia, Recurrent otitis media, Decreased circulati...	OMIM:613502
Necrobiosis Lipoidica	Erythema, Telangiectasia of the skin, Fragile skin, Skin ulcer	ORPHA:542592
Gaucher Disease, Perinatal Lethal	Hypokinesia, Hepatosplenomegaly, Akinesia, Splenomegaly, Petechiae, Neonatal death, Purpura, Thro...	OMIM:608013
Long Qt Syndrome 9	Abnormal U wave, Sinus bradycardia, Prolonged QT interval, Syncope, Ventricular arrhythmia, Cardi...	OMIM:611818
Dietary Iron Overload Disease	Hepatic bridging fibrosis, Hepatic fibrosis, Hepatitis, Abnormal pancreas morphology, Hepatic per...	ORPHA:139507
Autoimmune Disease, Multisystem, With Facial Dysmorphism	Hepatitis, Failure to thrive in infancy, Hypersplenism, Pancytopenia, Portal hypertension, Spleno...	OMIM:613385
Combined Oxidative Phosphorylation Deficiency 36	Premature skin wrinkling	OMIM:617950
Primary Myelofibrosis	Increased circulating lactate dehydrogenase concentration, Extramedullary hematopoiesis, Hepatosp...	ORPHA:824
Autosomal Erythropoietic Protoporphyria	Erythema, Cutaneous photosensitivity, Edema	ORPHA:79278
Proteasome-Associated Autoinflammatory Syndrome 1	Increased circulating interleukin 8 concentration, Premature graying of hair, Recurrent otitis me...	OMIM:256040
Immunodeficiency 99 With Hypogammaglobulinemia And Autoimmune Cytopenias	Decreased proportion of CD4+CD25+ regulatory T cells, Lymphopenia, Vitiligo, Decreased circulatin...	OMIM:619846
Immunodeficiency 56	Recurrent pneumonia, Hepatic failure, Failure to thrive, Panhypogammaglobulinemia, Recurrent otit...	OMIM:615207
Gaucher Disease Type 1	Hepatosplenomegaly, Hypersplenism, Pancytopenia, Increased circulating antibody level, Cirrhosis,...	ORPHA:77259
Infantile Digital Fibromatosis	Parakeratosis, Hyperkeratosis	ORPHA:199267
Hemochromatosis, Type 3	Increased circulating iron concentration, Elevated circulating hepatic transaminase concentration...	OMIM:604250
Ebstein Anomaly	Atrial standstill, Right bundle branch block, Ventricular preexcitation, Atrial fibrillation, Sud...	OMIM:224700
Cerebral Dysgenesis, Neuropathy, Ichthyosis, And Palmoplantar Keratoderma Syndrome	Ichthyosis, Palmoplantar keratoderma, Failure to thrive, Aspiration pneumonia	OMIM:609528
Immunodeficiency 40	Focal active colitis, Recurrent pneumonia, Eosinophilic granuloma, Recurrent otitis media, Elevat...	OMIM:616433
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive	Pneumonia, Failure to thrive, Failure to thrive secondary to recurrent infections, Panhypogammagl...	OMIM:601457
Immunodeficiency, Common Variable, 4	Decreased circulating IgG level, Abnormal T cell count, Recurrent pneumonia, Recurrent sinusitis,...	OMIM:613494
Alpha-Methylacetoacetic Aciduria	Dehydration	OMIM:203750
Microcephaly, Congenital Cataract, And Psoriasiform Dermatitis	Failure to thrive, Hypocholesterolemia, Psoriasiform dermatitis, Ichthyosis, Decreased LDL choles...	OMIM:616834
Immunodeficiency 92	Pneumonia, Decreased circulating IgG level, Partial absence of specific antibody response to teta...	OMIM:619652
Arthrogryposis, Renal Dysfunction, And Cholestasis 2	Cholestatic liver disease, Giant cell hepatitis, Elevated circulating hepatic transaminase concen...	OMIM:613404
Diabetes Mellitus, Transient Neonatal, 1	Dehydration	OMIM:601410
Diarrhea 4, Malabsorptive, Congenital	Dehydration	OMIM:610370
Immunodeficiency, Common Variable, 11	Decreased circulating IgG level, Abnormal T cell count, Inflammation of the large intestine, Fail...	OMIM:615767
Glycogen Storage Disease Vi	Elevated circulating hepatic transaminase concentration, Failure to thrive in infancy, Hyperlipid...	OMIM:232700
Insulin-Resistance Syndrome Type B	Decreased body weight, Increased body weight, Increased circulating IgA level, Weight loss, Hypot...	ORPHA:2298
Gastrointestinal Defects And Immunodeficiency Syndrome 1	Congenital pulmonary airway malformation, Lymphopenia, Psoriasiform dermatitis, Interface hepatit...	OMIM:243150
Lactase Deficiency, Congenital	Dehydration	OMIM:223000
Immunodeficiency With Hyper-Igm, Type 3	Decreased circulating IgG level, Impaired memory B cell generation, Absence of lymph node germina...	OMIM:606843
Wolman Disease	Reduced lysosomal acid lipase activity, Failure to thrive, Acute hepatic failure, Splenomegaly, H...	OMIM:620151
Cardiomyopathy, Dilated, 2C	Reduced left ventricular ejection fraction, Pulmonary arterial hypertension, Dilated cardiomyopathy	OMIM:618189
Hypohidrosis-Enamel Hypoplasia-Palmoplantar Keratoderma-Intellectual Disability Syndrome	Recurrent respiratory infections, Palmoplantar hyperkeratosis, Hepatitis	ORPHA:363523
Autoimmune Polyendocrinopathy Type 4	Atrophic gastritis, Thymoma, Aplasia/Hypoplasia of the spleen, Rheumatoid arthritis, Non-caseatin...	ORPHA:227990
Congenital Bile Acid Synthesis Defect Type 1	Elevated circulating hepatic transaminase concentration, Failure to thrive, Neonatal cholestatic ...	ORPHA:79301
Immunodeficiency 60 And Autoimmunity	Decreased proportion of memory B cells, Decreased circulating IgG level, Ulcerative colitis, Panc...	OMIM:618394
Deafness-Lymphedema-Leukemia Syndrome	Bone marrow hypocellularity, Acute leukemia, Leukocytosis, Splenomegaly, Weight loss, Lymphadenop...	ORPHA:3226
Rosaï-Dorfman Disease	Erythema	ORPHA:158014
Immunodeficiency 14B, Autosomal Recessive	Decreased circulating IgG level, Inflammation of the large intestine, Recurrent pneumonia, Decrea...	OMIM:619281
Cryoglobulinemic Vasculitis	Abnormality of the liver, Splenomegaly, Cryoglobulinemia, Keratoconjunctivitis sicca, Circulating...	ORPHA:91138
Cardiomyopathy, Dilated, With Woolly Hair And Keratoderma	Palmoplantar keratoderma, Palmoplantar scaling skin, Palmoplantar erythema, Palmoplantar hyperker...	OMIM:605676
T-Cell Lymphoma, Subcutaneous Panniculitis-Like	Hemophagocytosis, Increased circulating ferritin concentration, Pancytopenia, Splenomegaly, Hyper...	OMIM:618398
Immunodeficiency 44	Lymphopenia, Decreased circulating IgA level, Abnormal circulating IgG level, Elevated circulatin...	OMIM:616636
Psoriasis 14, Pustular	Erythema, Psoriasiform dermatitis, Parakeratosis	OMIM:614204
Palmoplantar Keratoderma, Punctate Type Ia	Orthokeratosis, Punctate palmoplantar hyperkeratosis, Hypergranulosis	OMIM:148600
Immunodeficiency 11B With Atopic Dermatitis	Pneumonia, Atopic dermatitis, Ulcerative colitis, Increased circulating IgE level, Disseminated m...	OMIM:617638
Hemoglobin E Disease	Increased red blood cell count, Reduced hemoglobin A, Drug-sensitive hemolytic anemia, Splenomega...	ORPHA:2133
Erythroleukemia, Familial, Susceptibility To	Erythroid hyperplasia, Splenomegaly, Hepatomegaly, Anemia, Acute myeloid leukemia, Thrombocytopen...	OMIM:133180
Neurodegeneration With Brain Iron Accumulation 5	Aggressive behavior, Akinesia	OMIM:300894
Congenital Amegakaryocytic Thrombocytopenia	Anemia, Melanocytic nevus, Abnormal hemoglobin, Thrombocytopenia	ORPHA:3319
Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome	Cholestatic liver disease, Elevated gamma-glutamyltransferase level, Inflammation of the large in...	ORPHA:562639
Burkitt Lymphoma	Increased circulating lactate dehydrogenase concentration, Abnormal lymph node morphology, Abnorm...	ORPHA:543
Hyperkeratosis Lenticularis Perstans	Hyperkeratosis lenticularis perstans, Skin ulcer	ORPHA:409
Ectodermal Dysplasia 10A, Hypohidrotic/Hair/Nail Type, Autosomal Dominant	Dry skin, Ectodermal dysplasia	OMIM:129490
Primary Sclerosing Cholangitis	Cholestasis, Acute hepatic failure, Hepatosplenomegaly, Abnormal biliary tract morphology, Cirrho...	ORPHA:171
Mast Cell Sarcoma	Mastocytosis, Splenomegaly, Weight loss, Lymphadenopathy, Hepatomegaly, Mediastinal lymphadenopathy	ORPHA:66661
Plague	Inflammation of the large intestine, Lymphadenitis, Chapped lip, Skin rash, Splenomegaly, Hepatom...	ORPHA:707
Classic Progressive Supranuclear Palsy Syndrome	Neuromuscular dysphagia, Falls, Akinesia, Gait imbalance, Impulsivity	ORPHA:240071
Gamma-Heavy Chain Disease	Rheumatoid arthritis, Abnormal lymphocyte morphology, Skin rash, Splenomegaly, Autoimmune hemolyt...	ORPHA:100026
Immunodeficiency, Common Variable, 7	Decreased specific pneumococcal antibody level, Decreased circulating total IgG, Decreased circul...	OMIM:614699
Keratosis Follicularis Spinulosa Decalvans, X-Linked	Follicular hyperkeratosis, Facial erythema, Palmoplantar keratoderma, Dry skin	OMIM:308800
Epidermolysis Bullosa Dystrophica, Pretibial	Hyperkeratosis	OMIM:131850
Acquired Idiopathic Sideroblastic Anemia	Normocytic anemia, Bone marrow hypocellularity, Megaloblastic erythroid hyperplasia, Hypochromic ...	ORPHA:75564
Cardiomyopathy, Dilated, 1G	Atrioventricular block, Dilated cardiomyopathy, Congestive heart failure, Reduced left ventricula...	OMIM:604145
Grubben-De Cock-Borghgraef Syndrome	Dry skin	ORPHA:2101
Bazex Syndrome	Palmoplantar keratoderma, Parakeratosis, Acanthosis nigricans, Scaling skin, Hyperkeratosis	ORPHA:166113
Sandhoff Disease	Hepatomegaly, Recurrent respiratory infections, Splenomegaly, Failure to thrive	ORPHA:796
Cystic Echinococcosis	Peritoneal abscess, Elevated gamma-glutamyltransferase level, Pulmonary cyst, Hyperbilirubinemia,...	ORPHA:400
Refractory Celiac Disease	Normocytic anemia, Hypoalbuminemia, Inflammatory abnormality of the skin, Elevated circulating he...	ORPHA:398063
Encephalopathy Due To Prosaposin Deficiency	Hepatomegaly, Recurrent respiratory infections, Splenomegaly	ORPHA:139406
Pulmonary Hypertension, Primary, 2	Abnormally loud pulmonic component of the second heart sound, Pulmonary arterial hypertension, In...	OMIM:615342
Persistent Polyclonal B-Cell Lymphocytosis	Hepatomegaly, Lymphocytosis, Splenomegaly, Decreased circulating total IgM	OMIM:606445
Immunodeficiency 85 And Autoimmunity	Decreased proportion of memory B cells, Reduced natural killer cell count, Decreased circulating ...	OMIM:619510
Bile Acid Synthesis Defect, Congenital, 4	Giant cell hepatitis, Hepatic failure, Elevated circulating hepatic transaminase concentration, I...	OMIM:214950
Pulmonary Venoocclusive Disease 2, Autosomal Recessive	Pulmonary arterial hypertension, Mediastinal lymphadenopathy	OMIM:234810
Majeed Syndrome	Inflammatory abnormality of the skin, Failure to thrive, Osteomyelitis, Leukocytosis, Splenomegal...	ORPHA:77297
Immunodeficiency, Common Variable, 3	Abnormal T cell count, Chronic decreased circulating total IgG, Recurrent otitis media, Decreased...	OMIM:613493
Breath-Holding Spells	Iron deficiency anemia, Cyanosis	OMIM:607578
Hyper-Ige Syndrome 4A, Autosomal Dominant, With Recurrent Infections	Atopic dermatitis, Recurrent pneumonia, Reduced natural killer cell count, Decreased circulating ...	OMIM:619752
Chediak-Higashi Syndrome	Silver-gray hair, Iris hypopigmentation, Hypopigmentation of the skin, Periodontitis, Hemophagocy...	OMIM:214500
Autoimmune Disease, Multisystem, Infantile-Onset, 3	Decreased specific pneumococcal antibody level, Abnormal T cell count, Decreased circulating IgG ...	OMIM:620430
Hemoglobin C-Beta-Thalassemia Syndrome	Anemia, Microcytic anemia, Splenomegaly, Abnormal hemoglobin	ORPHA:231242
Immunodeficiency, Common Variable, 6	Decreased specific pneumococcal antibody level, Abnormal T cell count, Chronic decreased circulat...	OMIM:613496
Wolff-Parkinson-White Syndrome	Atrial flutter, Paroxysmal atrial fibrillation, Palpitations, Prolonged QRS complex, Shortened PR...	OMIM:194200
Hypobetalipoproteinemia, Familial, 1	Elevated circulating aspartate aminotransferase concentration, Hypocholesterolemia, Acanthocytosi...	OMIM:615558
Mycosis Fungoides	Erythema, Psoriasiform dermatitis	OMIM:254400
Progressive Familial Intrahepatic Cholestasis	Failure to thrive, Cholestasis, Splenomegaly, Hypocalcemia, Hepatomegaly, Jaundice	ORPHA:172
Multiple Myeloma	Elevated circulating creatinine concentration, Pleural effusion, Splenomegaly, Increased circulat...	ORPHA:29073
Immunodeficiency 46	Failure to thrive, Recurrent sinopulmonary infections, Neutropenia, Chronic oral candidiasis, Ane...	OMIM:616740
Anemia, Congenital Dyserythropoietic, Type Ia	Macrocytic dyserythropoietic anemia, Increased circulating lactate dehydrogenase concentration, E...	OMIM:224120
Ebola Hemorrhagic Fever	Hepatitis, Lymphopenia, Leukopenia, Increased circulating antibody level, Thrombocytopenia, Macul...	ORPHA:319218
Immunodeficiency 94 With Autoinflammation And Dysmorphic Facies	Recurrent pneumonia, Microcytic anemia, Hepatosplenomegaly, Lymphadenopathy, Elevated circulating...	OMIM:619750
Congenital Disorder Of Glycosylation, Type Il	Hypoalbuminemia, Failure to thrive, Ascites, Hypocholesterolemia, Splenomegaly, Hepatomegaly	OMIM:608776
B4Galt1-Cdg	Inflammatory abnormality of the skin, Elevated circulating hepatic transaminase concentration, Ab...	ORPHA:79332
Agammaglobulinemia 6, Autosomal Recessive	Decreased circulating IgG level, Recurrent pneumonia, Recurrent otitis media, Decreased circulati...	OMIM:612692
Intellectual Developmental Disorder With Muscle Tone Abnormalities And Distal Skeletal Defects	Attention deficit hyperactivity disorder, Hypokinesia, Ataxia	OMIM:620007
Kikuchi-Fujimoto Disease	Abnormal lymph node morphology, Pustule, Weight loss, Neutropenia, Hepatomegaly, Elevated circula...	ORPHA:50918
Erythrokeratodermia Variabilis Et Progressiva 1	Patchy palmoplantar hyperkeratosis, Hypergranulosis, Generalized hyperkeratosis	OMIM:133200
Netherton Syndrome	Dry skin, Ichthyosis, Acanthosis nigricans, Congenital nonbullous ichthyosiform erythroderma, Deh...	ORPHA:634
Immunodeficiency, Common Variable, 5	Abnormal T cell count, Abnormal B cell count, Chronic decreased circulating total IgG, Recurrent ...	OMIM:613495
Chylomicron Retention Disease	Elevated circulating hepatic transaminase concentration, Failure to thrive, Hypocholesterolemia, ...	ORPHA:71
Congenital Disorder Of Glycosylation, Type Iik	Failure to thrive, Elevated circulating aspartate aminotransferase concentration, Elevated circul...	OMIM:614727
Complex Regional Pain Syndrome	Erythema, Pedal edema, Dry skin, Edema of the upper limbs	ORPHA:83452
Idiopathic/Heritable Pulmonary Arterial Hypertension	Tricuspid regurgitation, Palpitations, Abnormal cardiovascular system physiology, Pulmonary arter...	ORPHA:422
Anemia, Congenital Dyserythropoietic, Type Ib	Erythroid hyperplasia, Splenomegaly, Anemia of inadequate production, Anisocytosis, Reticulocytos...	OMIM:615631
Congenital Heart Defects And Ectodermal Dysplasia	Dry skin, Thin skin	OMIM:617364
Intellectual Developmental Disorder With Language Impairment And Early-Onset Dopa-Responsive Dystonia-Parkinsonism	Akinesia, Freezing of gait	OMIM:619911
Pyruvate Kinase Deficiency Of Red Cells	Cholelithiasis, Unconjugated hyperbilirubinemia, Reduced red cell pyruvate kinase level, Erythroi...	OMIM:266200
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-	Failure to thrive, Splenomegaly, Hyperammonemia, Hepatomegaly, Pancreatitis, Thrombocytopenia, Ne...	ORPHA:79312
Classic Hodgkin Lymphoma	Bone marrow hypocellularity, Skin rash, Splenomegaly, Weight loss, Lymphadenopathy, Hepatomegaly,...	ORPHA:391
Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome	Failure to thrive, Decreased liver function, Hyperornithinemia, Hyperammonemia, Hepatomegaly, Acu...	OMIM:238970
Triokinase And Fmn Cyclase Deficiency Syndrome	Hypoalbuminemia, Microcytic anemia, Failure to thrive in infancy, Hepatic steatosis, Pancreatitis...	OMIM:618805
Immunodeficiency 47	Hepatic bridging fibrosis, Decreased circulating total IgG, Chronic decreased circulating total I...	OMIM:300972
Immunodeficiency 15A	Decreased proportion of memory B cells, Acne inversa, Chronic mucocutaneous candidiasis, Cutaneou...	OMIM:618204
Autosomal Recessive Hypohidrotic Ectodermal Dysplasia	Dry skin	ORPHA:248
Combined Malonic And Methylmalonic Aciduria	Dehydration	OMIM:614265
Autoimmune Polyendocrinopathy Type 3	Atrophic gastritis, Thymoma, Aplasia/Hypoplasia of the spleen, Rheumatoid arthritis, Non-caseatin...	ORPHA:227982
Epidermolysis Bullosa Simplex With Mottled Pigmentation	Hyperkeratotic papule, Palmar hyperkeratosis, Skin fragility with non-scarring blistering, Planta...	ORPHA:79397
Protoporphyria, Erythropoietic, 1	Erythema, Edema	OMIM:177000
Alg8-Cdg	Abnormality of subcutaneous fat tissue, Premature skin wrinkling, Ascites, Oligohydramnios, Cutis...	ORPHA:79325
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency	Decreased circulating IgG level, Recurrent pneumonia, Decreased lymphocyte proliferation in respo...	ORPHA:35078
Microcephalic Primordial Dwarfism, Montreal Type	Dry skin, Prematurely aged appearance, Premature graying of hair	ORPHA:2617
Familial Apolipoprotein Gene Cluster Deletion Syndrome	Hypocholesterolemia, Hypotriglyceridemia, Decreased circulating apolipoprotein A-I concentration,...	OMIM:620058
Sporadic Adult-Onset Ataxia Of Unknown Etiology	Shuffling gait, Akinesia, Gait ataxia, Ataxia, Dysphagia, Dysdiadochokinesis	ORPHA:247234
Postencephalitic Parkinsonism	Akinesia, Dysphagia, Diminished movement	ORPHA:97349
Systemic-Onset Juvenile Idiopathic Arthritis	Pleural effusion, Skin rash, Splenomegaly, Hepatomegaly, Lymphadenopathy, Arthritis, Elevated cir...	ORPHA:85414
T-Cell Immunodeficiency With Thymic Aplasia	Abnormally low T cell receptor excision circle level, Recurrent pneumonia, Eczematoid dermatitis,...	OMIM:242700
Primary Sjögren Syndrome	Arteritis, Lymphopenia, Chronic hepatitis, Decreased proportion of CD4-positive helper T cells, L...	ORPHA:289390
Harderoporphyria	Neonatal hyperbilirubinemia, Increased circulating ferritin concentration, Splenomegaly, Reticulo...	OMIM:618892
Ichthyosis-Alopecia-Eclabion-Ectropion-Intellectual Disability Syndrome	Dry skin, Cutis laxa, Scaling skin	ORPHA:2269
Proteus Syndrome	Depigmentation/hyperpigmentation of skin, Lymphangioma, Hyperkeratosis, Splenomegaly	OMIM:176920
Immunodeficiency 54	Reduced natural killer cell count, Failure to thrive, Splenomegaly, Hyperpigmentation of the skin...	OMIM:609981
Cardiomyopathy-Cataract-Hip Spine Disease Syndrome	Pulmonary embolism, Congestive heart failure, Hypertrophic cardiomyopathy, Arrhythmia, Hypertension	ORPHA:1345
Brugada Syndrome 3	Shortened QT interval, Ventricular arrhythmia, Syncope, J wave, Atrial fibrillation, Sudden cardi...	OMIM:611875
Multicentric Reticulohistiocytosis	Cachexia, Histiocytosis, Arthritis	ORPHA:139436
Igg4-Related Aortitis	Increased circulating IgE level, Increased circulating IgG4 level, Reduced circulating complement...	ORPHA:449400
Hemoglobin-Delta locus	Anemia, Imbalanced hemoglobin synthesis	OMIM:142000
Bone Marrow Failure Syndrome 4	Bone marrow hypocellularity, Eczematoid dermatitis, Leukopenia, Thrombocytopenia, Anemia, Recurre...	OMIM:618116
Cinca Syndrome	Abnormality of neutrophils, Leukocytosis, Splenomegaly, Hepatomegaly, Anemia, Lymphadenopathy, El...	ORPHA:1451
Immunodeficiency 112	Decreased circulating IgG level, Reduced natural killer cell count, Chronic mucocutaneous candidi...	OMIM:620449
Brugada Syndrome 7	Atrial flutter, Prolonged P wave, Paroxysmal atrial fibrillation, Permanent atrial fibrillation, ...	OMIM:613120
X-Linked Sideroblastic Anemia	Elevated circulating hepatic transaminase concentration, Splenomegaly, Hyperpigmentation of the s...	ORPHA:75563
Syndromic Multisystem Autoimmune Disease Due To Itch Deficiency	Hepatitis, Acute hepatic failure, Failure to thrive in infancy, Hepatosplenomegaly, Hypersplenism...	ORPHA:228426
Immunodeficiency 36 With Lymphoproliferation	Decreased circulating IgG level, Recurrent upper respiratory tract infections, Lymphopenia, Decre...	OMIM:616005
Hepatoportal Sclerosis	Hypoalbuminemia, Nodular regenerative hyperplasia of liver, Periportal fibrosis, Elevated circula...	ORPHA:64743
Cholesteryl Ester Storage Disease	Hepatic failure, Splenomegaly, Cirrhosis, Hypercholesterolemia, Hypertriglyceridemia, Hepatomegal...	ORPHA:75234
Autosomal Recessive Generalized Epidermolysis Bullosa Simplex	Hypopigmentation of the skin, Failure to thrive, Hyperpigmentation of the skin, Palmoplantar hype...	ORPHA:89838
Congenital Atransferrinemia	Anemia, Abnormality of the pancreas, Arthritis	ORPHA:1195
Autoinflammatory Disease, Systemic, With Vasculitis	Elevated gamma-glutamyltransferase level, Cholestasis, Hepatosplenomegaly, Abnormal circulating I...	OMIM:620376
Agammaglobulinemia 7, Autosomal Recessive	Reduced natural killer cell count, Panhypogammaglobulinemia, Abnormal T cell morphology, Agammagl...	OMIM:615214
Diffuse Cutaneous Mastocytosis	Thickened skin, Elevated total serum tryptase, Abnormality of the spleen, Abnormality of the live...	ORPHA:79456
Angioma Serpiginosum, X-Linked	Hyperkeratosis	OMIM:300652
Progressive Non-Fluent Aphasia	Astrocytosis	ORPHA:100070
Leukoencephalopathy, Progressive, Infantile-Onset, With Or Without Deafness	Anemia, Akinesia, Death in childhood, Hypochromic microcytic anemia	OMIM:619147
Hemochromatosis, Type 4	Increased circulating ferritin concentration, Hepatic steatosis, Hepatomegaly, Cirrhosis, Hyperpi...	OMIM:606069
Cholestasis, Intrahepatic, Of Pregnancy, 1	Abnormal liver function tests during pregnancy, Intrahepatic cholestasis, Jaundice, Elevated circ...	OMIM:147480
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome	Recurrent otitis media, Lymphopenia, Hepatosplenomegaly, Pancytopenia, Erythema nodosum, Hepatome...	OMIM:615688
Chédiak-Higashi Syndrome	Periodontitis, Hemophagocytosis, Hepatosplenomegaly, Pancytopenia, Neutropenia, Jaundice, Hypopro...	ORPHA:167
Agammaglobulinemia 10, Autosomal Dominant	Decreased circulating IgG level, Decreased circulating IgA level, Transient neutropenia, Recurren...	OMIM:619707
Anemia, Hypochromic Microcytic, With Iron Overload 2	Increased circulating ferritin concentration, Sideroblastic anemia, Splenomegaly, Hepatomegaly, H...	OMIM:615234
Aicardi-Goutieres Syndrome 5	Dry skin, Scaling skin	OMIM:612952
Cog7-Cdg	Elevated circulating hepatic transaminase concentration, Failure to thrive, Hepatosplenomegaly, E...	ORPHA:79333
Hyper-Ige Syndrome 3, Autosomal Recessive, With Recurrent Infections	Atopic dermatitis, Recurrent pneumonia, Eczematoid dermatitis, Cutaneous abscess, Chronic mucocut...	OMIM:618282
Anemia, Sideroblastic, 2, Pyridoxine-Refractory	Increased circulating ferritin concentration, Sideroblastic anemia, Hypochromia, Anemia, Elevated...	OMIM:205950
Prolidase Deficiency	Erythema, Palmoplantar keratoderma, Skin ulcer, Dry skin, Hyperkeratosis, Cutaneous photosensitiv...	ORPHA:742
Cole Disease	Hyperkeratotic papule, Orthokeratosis, Palmoplantar keratoderma, Hypergranulosis, Punctate palmop...	OMIM:615522
Corticobasal Syndrome	Akinesia, Gait disturbance	ORPHA:454887
Arrhythmogenic Right Ventricular Dysplasia, Familial, 5	Congestive heart failure, Right ventricular cardiomyopathy, Palpitations, Prolonged QRS complex, ...	OMIM:604400
Leopard Syndrome 2	Webbed neck, Dry skin	OMIM:611554
Acute Generalized Exanthematous Pustulosis	Elevated circulating hepatic transaminase concentration, Pruritus, Cholestasis, Predominantly der...	ORPHA:293173
Central Diabetes Insipidus	Polydipsia, Dehydration, Anorexia	ORPHA:178029
Porokeratosis 3, Multiple Types	Parakeratosis, Porokeratosis	OMIM:175900
Idiopathic Achalasia	Recurrent aspiration pneumonia, Weight loss, Bronchitis, Decreased circulating prealbumin concent...	ORPHA:930
Trichohepatoenteric Syndrome 2	Decreased circulating iron concentration, Failure to thrive, Cirrhosis, Chronic hepatitis, Hepato...	OMIM:614602
Immunodeficiency 43	Hypoalbuminemia, Decreased circulating IgG level, Reduced natural killer cell count, Decreased sp...	OMIM:241600
Immunodeficiency 22	Decreased circulating IgG level, Decreased circulating IgE, Recurrent upper respiratory tract inf...	OMIM:615758
Alg12-Cdg	Hypoalbuminemia, Recurrent pneumonia, Elevated circulating hepatic transaminase concentration, Fa...	ORPHA:79324
Snakebite Envenomation	Erythema, Neuromuscular dysphagia, Angioedema, Pseudobulbar paralysis, Ecchymosis, Edema	ORPHA:449285
Combined Immunodeficiency Due To Dock8 Deficiency	Pneumonia, Atopic dermatitis, Increased circulating IgE level, Recurrent sinusitis, B lymphocytop...	ORPHA:217390
Thyroid Dyshormonogenesis 1	Dry skin	OMIM:274400
Babesiosis	Hepatic failure, Leukopenia, Splenomegaly, Thrombocytopenia, Recurrent pharyngitis, Hepatomegaly,...	ORPHA:108
Shwachman-Diamond Syndrome	Aplastic anemia, Pancytopenia, Increased serum bile acid concentration, Impaired neutrophil chemo...	ORPHA:811
Hb Bart'S Hydrops Fetalis	Abnormal hemoglobin, Splenomegaly, Hepatomegaly, Anemia, Pericarditis	ORPHA:163596
Alpha-Thalassemia	Cholelithiasis, Extramedullary hematopoiesis, Microcytic anemia, Hemoglobin Barts, Hepatosplenome...	ORPHA:846
Diarrhea 2, With Microvillus Atrophy, With Or Without Cholestasis	Dehydration	OMIM:251850
Galactose Epimerase Deficiency	Hepatomegaly, Jaundice, Weight loss, Splenomegaly	ORPHA:79238
Bile Acid Conjugation Defect 1	Hepatic failure, Elevated circulating aspartate aminotransferase concentration, Elevated circulat...	OMIM:619232
Palmoplantar Keratoderma I, Striate, Focal, Or Diffuse	Palmoplantar keratoderma, Hypergranulosis, Orthokeratotic hyperkeratosis, Palmoplantar hyperkerat...	OMIM:148700
Lichen Planopilaris	Hypopigmented skin patches, Pruritus, Hyperkeratosis, Hepatitis	ORPHA:525
Idiopathic Hypereosinophilic Syndrome	Inflammatory abnormality of the skin, Hepatosplenomegaly, Chronic hepatitis, Erythroderma, Neutro...	ORPHA:3260
Whim Syndrome 1	Decreased circulating IgG level, Recurrent upper respiratory tract infections, Neutropenia, Decre...	OMIM:193670
Segawa Syndrome, Autosomal Recessive	Gait ataxia, Hypokinesia	OMIM:605407
Congenital Myopathy 7B, Myosin Storage, Autosomal Recessive	Dilated cardiomyopathy, Sinus tachycardia, Congestive heart failure, Hypertrophic cardiomyopathy,...	OMIM:255160
Congenital Disorder Of Glycosylation, Type Ia	Hypoalbuminemia, Hepatic fibrosis, Decreased circulating IgG level, Elevated circulating hepatic ...	OMIM:212065
Abetalipoproteinemia	Hypoalbuminemia, Hepatic fibrosis, Elevated circulating hepatic transaminase concentration, Hypot...	ORPHA:14
Secondary Intestinal Lymphangiectasia	Hypoalbuminemia, Secondary hyperaldosteronism, Reduced circulating transferrin concentration, Dec...	ORPHA:90363
Cyclic Neutropenia	Recurrent tonsillitis, Periodontitis, Cervical lymphadenopathy, Lymphopenia, Cyclic neutropenia, ...	ORPHA:2686
Dehydrated Hereditary Stomatocytosis	Neonatal hyperbilirubinemia, Anemia of inadequate production, Increased circulating hemoglobin co...	ORPHA:3202
Alpha-Thalassemia-Myelodysplastic Syndrome	Acute leukemia, HbH hemoglobin, Microcytic anemia, Splenomegaly, Neutropenia, Thrombocytopenia	ORPHA:231401
Netherton Syndrome	Allergic rhinitis, Decreased circulating IgG level, Eczematoid dermatitis, Failure to thrive, Inc...	OMIM:256500
Primary Intestinal Lymphangiectasia	Hypoalbuminemia, Decreased circulating IgG level, Peritoneal effusion, Intestinal lymphangiectasi...	ORPHA:90362
Isobutyryl-Coa Dehydrogenase Deficiency	Dehydration	ORPHA:79159
Classic Glucose Transporter Type 1 Deficiency Syndrome	Cyanosis, Abnormal erythrocyte morphology, Choreoathetosis, Ataxia	ORPHA:71277
Familial Short Qt Syndrome	Atrioventricular block, Shortened QT interval, Palpitations, Syncope, Bradycardia, Ventricular ar...	ORPHA:51083
Dermatitis Herpetiformis	Erythema, Skin vesicle, Edema, Urticaria	ORPHA:1656
Isolated Sedoheptulokinase Deficiency	Cholestatic liver disease, Hepatitis, Cholestasis, Portal hypertension, Hypochromic microcytic an...	ORPHA:440713
Congenital Myopathy 12	Akinesia, Death in infancy	OMIM:612540
Pituitary Adenoma 4, Acth-Secreting	Poor wound healing, Bruising susceptibility, Abnormal fear-induced behavior, Striae distensae, Ec...	OMIM:219090
Gaucher Disease	Pancytopenia, Increased circulating antibody level, Cirrhosis, Polyclonal elevation of IgM, Hepat...	ORPHA:355
Lysinuric Protein Intolerance	Abnormality of humoral immunity, Hemophagocytosis, Hepatosplenomegaly, Increased LDL cholesterol ...	ORPHA:470
Sporadic Creutzfeldt-Jakob Disease	Astrocytosis, Gliosis	ORPHA:204
Glycogen Storage Disease Due To Lactate Dehydrogenase M-Subunit Deficiency	Elevated circulating hepatic transaminase concentration, Abnormal circulating lactate dehydrogena...	ORPHA:284426
Epidermodysplasia Verruciformis, Susceptibility To, 4	Facial erythema	OMIM:618307
Striatal Degeneration, Autosomal Dominant 1	Gait disturbance, Dysdiadochokinesis, Hypokinesia	OMIM:609161
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative	Pneumonia, Cutaneous anergy, Recurrent upper respiratory tract infections, Absent natural killer ...	OMIM:600802
Immunodeficiency 38 With Basal Ganglia Calcification	Axillary lymphadenopathy, Inguinal lymphadenopathy, Lymphadenopathy	OMIM:616126
Immunodeficiency 57 With Autoinflammation	Inflammation of the large intestine, Reduced natural killer cell count, Partial absence of specif...	OMIM:618108
Immunodeficiency, partial combined, with absence of hla determinantsand beta-2-microglobulin from lymphocytes	Decreased circulating IgG level, T lymphocytopenia	OMIM:242870
Bilateral Striopallidodentate Calcinosis	Hepatomegaly, Abnormality of the liver, Thrombocytopenia	ORPHA:1980
Huntington Disease	Hypokinesia, Oral-pharyngeal dysphagia, Difficulty walking, Inability to walk, Gait imbalance, Di...	ORPHA:399
Erythrocytosis, Familial, 8	Polycythemia, Increased hematocrit, Splenomegaly, Increased circulating hemoglobin concentration,...	OMIM:222800
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome	Recurrent upper respiratory tract infections, Inflammatory abnormality of the skin, Eczematoid de...	ORPHA:391487
Autoimmune Polyendocrine Syndrome, Type Ii	Thymoma, Hepatitis, Chronic mucocutaneous candidiasis, Exocrine pancreatic insufficiency, Keratoc...	OMIM:269200
Myoclonic-Astatic Epilepsy	Attention deficit hyperactivity disorder, Hyperactivity, Premature skin wrinkling	ORPHA:1942
Rift Valley Fever	Elevated circulating hepatic transaminase concentration, Hepatitis, Skin rash, Infectious encepha...	ORPHA:319251
Congenital Rubella Syndrome	Splenomegaly, Skin rash, Abnormality of retinal pigmentation, Abnormality of the pulmonary artery...	ORPHA:290
Bullous Pemphigoid	Erythema, Psoriasiform dermatitis, Urticaria	ORPHA:703
Cholestasis, Progressive Familial Intrahepatic, 2	Intrahepatic cholestasis, Failure to thrive, Splenomegaly, Elevated circulating alkaline phosphat...	OMIM:601847
Wolman Disease	Hepatic failure, Ascites, Splenomegaly, Hepatomegaly, Cachexia, Anemia, Bone-marrow foam cells, S...	ORPHA:75233
Congenital Disorder Of Glycosylation, Type Iir	Elevated circulating hepatic transaminase concentration, Micronodular cirrhosis, Decreased liver ...	OMIM:301045
Lipoid Proteinosis Of Urbach And Wiethe	Thickened skin, Hyperkeratosis, Aggressive behavior	OMIM:247100
Sickle Cell Anemia	Splenic infarction, Cholelithiasis, Hypochromic anemia, Increased mean corpuscular volume, Pigmen...	ORPHA:232
Hypothyroidism, Congenital, Nongoitrous, 4	Dry skin	OMIM:275100
Congenital Disorder Of Glycosylation, Type Iip	Elevated circulating hepatic transaminase concentration, Hepatic steatosis, Decreased liver funct...	OMIM:616829
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome	Splenic infarction, Persistence of hemoglobin F, Increased red cell sickling tendency, Splenomega...	ORPHA:251380
Lethal Congenital Contracture Syndrome 2	Akinesia	OMIM:607598
Phosphoserine Aminotransferase Deficiency	Cyanotic episode, Death in infancy	OMIM:610992
Cholestasis, Progressive Familial Intrahepatic, 3	Intrahepatic cholestasis, Elevated gamma-glutamyltransferase level, Elevated circulating hepatic ...	OMIM:602347
Hypereosinophilic Syndrome, Idiopathic	Splenomegaly, Eosinophilia, Myeloproliferative disorder, Hepatomegaly, Pruritus	OMIM:607685
Anemia, Nonspherocytic Hemolytic, Possibly Due To Defect In Porphyrin Metabolism	Jaundice, Splenomegaly, Nonspherocytic hemolytic anemia	OMIM:206400
Sunct Syndrome	Facial edema, Agitation, Facial erythema, Palpebral edema, Restlessness, Flushing	ORPHA:57145
Sitosterolemia 1	Stomatocytosis, Giant platelets, Increased circulating lactate dehydrogenase concentration, Hyper...	OMIM:210250
Pulmonary Edema Of Mountaineers, Susceptibility To	Elevated pulmonary artery pressure	OMIM:178400
Immunodeficiency With Hyper-Igm, Type 5	Decreased circulating IgG level, Decreased circulating IgA level, Impaired Ig class switch recomb...	OMIM:608106
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 7	Astrocytosis	OMIM:600795
Neonatal Alloimmune Neutropenia	Pneumonia, Jaundice, Neutropenia in presence of anti-neutropil antibodies	ORPHA:464370
Fetal Akinesia Deformation Sequence	Akinesia, Hypokinesia	ORPHA:994
Dehydrated Hereditary Stomatocytosis 2	Increased mean corpuscular volume, Increased mean corpuscular hemoglobin concentration, Thrombocy...	OMIM:616689
Beta-Thalassemia Intermedia	Abnormality of iron homeostasis, Cholelithiasis, Extramedullary hematopoiesis, Persistence of hem...	ORPHA:231222
Ventricular Tachycardia, Catecholaminergic Polymorphic, 3	Palpitations, Cardiac arrest, Premature ventricular contraction, Syncope, Paroxysmal ventricular ...	OMIM:614021
Autoinflammation, Panniculitis, And Dermatosis Syndrome	Failure to thrive in infancy, Leukocytosis, Skin rash, Increased proportion of CD4-positive T cel...	OMIM:617099
Graham Little-Piccardi-Lassueur Syndrome	Perifollicular hyperkeratosis	ORPHA:505
Immunodeficiency With Hyper-Igm, Type 2	Decreased circulating IgG level, Decreased circulating IgA level, Complete or near-complete absen...	OMIM:605258
Combined Oxidative Phosphorylation Deficiency 47	Dysphagia, Dehydration	OMIM:618958
Atrial Fibrillation, Familial, 7	Prolonged QTc interval, Paroxysmal atrial fibrillation, Premature atrial contractions, Palpitatio...	OMIM:612240
Immunodeficiency Due To Selective Anti-Polysaccharide Antibody Deficiency	Atopic dermatitis, Decreased proportion of memory B cells, Decreased specific anti-polysaccharide...	ORPHA:70593
Immunodeficiency 70	Decreased circulating total IgG, Decreased proportion of CD4-positive helper T cells, Recurrent s...	OMIM:618969
Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis	Hepatic fibrosis, Hepatic failure, Orthokeratosis, Cholestasis, Portal hypertension, Splenomegaly...	OMIM:607626
Interstitial Granulomatous Dermatitis With Arthritis	Erythema	ORPHA:79099
Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia	Pneumonia, Abnormal T cell count, Panhypogammaglobulinemia, Recurrent otitis media, Pyoderma, Inf...	OMIM:307200
Glycogen Storage Disease Xii	Normocytic anemia, Cholelithiasis, Increased circulating lactate dehydrogenase concentration, Hyp...	OMIM:611881
Long Qt Syndrome 16	Prolonged QTc interval, Second degree atrioventricular block, T-wave alternans, Bradycardia	OMIM:618782
Hypotrichosis Simplex Of The Scalp	Parakeratosis, Hyperkeratosis, Scaling skin	ORPHA:90368
Farber Lipogranulomatosis	Failure to thrive, Splenomegaly, Lipogranulomatosis, Decreased acid ceramidase activity, Arthriti...	OMIM:228000
Squamous Cell Carcinoma Of The Esophagus	Lymphadenopathy	ORPHA:99977
Autoimmune Disease, Multisystem, Infantile-Onset, 1	Recurrent upper respiratory tract infections, Eczematoid dermatitis, Exocrine pancreatic insuffic...	OMIM:615952
Congenital Disorder Of Glycosylation, Type Iic	Pneumonia, Reduction of neutrophil motility, Bronchiolitis, Periodontitis, Recurrent otitis media...	OMIM:266265
Glycogen Storage Disease Ixa1	Elevated circulating hepatic transaminase concentration, Splenomegaly, Hyperuricemia, Hypercholes...	OMIM:306000
Lichen Planus Pemphigoides	Skin vesicle, Hyperkeratosis	ORPHA:254478
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency	Elevated gamma-glutamyltransferase level, Cholestasis, Hepatosplenomegaly, Hyperbilirubinemia, In...	ORPHA:247598
Late-Onset Isolated Acth Deficiency	Normocytic anemia, Hepatitis, Failure to thrive, Vitiligo, Macrocytic anemia, Hyperuricemia, Hash...	ORPHA:199299
Fragile Site, Distamycin A Type, Rare, Fra(16)(Q22.1)	Abnormal lymph node morphology	OMIM:136580
Tempi Syndrome	Polycythemia, Ascites, Increased hematocrit, Transudative pleural effusion, Abnormality of the pu...	ORPHA:284227
Myasthenia Gravis	Rheumatoid arthritis, Hepatitis, Myositis, Hashimoto thyroiditis, Abnormal thymus morphology, Pur...	ORPHA:589
Lymphangiectasia, Intestinal	Decreased circulating IgG level, Intestinal lymphangiectasia, Lymphopenia, Neonatal hypoproteinem...	OMIM:152800
Rhabdoid Tumor	Neoplasm of the liver, Weight loss, Lymphadenopathy, Thrombocytopenia, Anemia, Hypercalcemia	ORPHA:69077
Brugada Syndrome 6	Cardiac arrest, ST segment elevation, Ventricular fibrillation	OMIM:613119
Myeloproliferative/Lymphoproliferative Neoplasms, Familial (Multiple Types), Susceptibility To	Bone marrow hypocellularity, Eczematoid dermatitis, Leukopenia, Acute myeloid leukemia, Monocytos...	OMIM:616871
Pemphigus Vulgaris	Acantholysis, Urticaria	ORPHA:704
Familial Melanoma	Dry skin	ORPHA:618
Immunodeficiency 42	Recurrent aphthous stomatitis, Splenomegaly, Hypoplasia of the thymus, Recurrent cutaneous fungal...	OMIM:616622
Galactosemia I	Increased level of galactitol in red blood cells, Failure to thrive, Decreased liver function, El...	OMIM:230400
Lipodystrophy, Congenital Generalized, Type 3	Hepatosplenomegaly, Splenomegaly, Hepatic steatosis, Hypocalcemia, Acanthosis nigricans, Hypercho...	OMIM:612526
Simple Cryoglobulinemia	Nephritis, Monoclonal immunoglobulin M proteinemia, Paraproteinemia, Reduced circulating compleme...	ORPHA:91139
Thalassemia, Beta+, Silent Allele	Reduced beta/alpha synthesis ratio	OMIM:187550
Elastosis Perforans Serpiginosa	Hyperkeratotic papule, Cutis laxa	ORPHA:79148
Desmoplastic Small Round Cell Tumor	Ascites, Hepatomegaly, Cachexia, Weight loss, Lymphadenopathy, Abnormal peritoneum morphology, An...	ORPHA:83469
Inflammatory Bowel Disease, Immunodeficiency, And Encephalopathy	Hypochromic anemia, Failure to thrive, Increased circulating IgE level, Leukocytosis, Pancolitis,...	OMIM:618213
Galactosemia Iv	Hepatomegaly, Prolonged neonatal jaundice, Hypergalactosemia	OMIM:618881
Coccidioidomycosis	Abnormality of the spleen, Morbilliform rash, Abscess, Erythema nodosum, Pruritus, Pleural empyem...	ORPHA:228123
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2	Pneumonia, Decreased circulating IgG level, Recurrent upper respiratory tract infections, Decreas...	OMIM:614069
Infantile Sialic Acid Storage Disease	Hypopigmentation of the skin, Fair hair, Failure to thrive, Ascites, Splenomegaly, Cardiomegaly, ...	OMIM:269920
Crimean-Congo Hemorrhagic Fever	Morbilliform rash, Pancytopenia, Erythema nodosum, Neutrophilia, Hepatomegaly, Jaundice, Epididym...	ORPHA:99827
Infantile Cataract, Skin Abnormalities, Glutamate Excess, And Impaired Intellectual Development	Self-injurious behavior, Parakeratosis, Hyperkeratosis, Agitation	OMIM:618339
Seizures, Benign Familial Infantile, 3	Cyanosis	OMIM:607745
Polycythemia Vera	Increased hematocrit, Leukocytosis, Splenomegaly, Increased red blood cell mass, Increased circul...	OMIM:263300
Tylosis With Esophageal Cancer	Diffuse palmoplantar hyperkeratosis, Parakeratosis, Follicular hyperkeratosis	OMIM:148500
Congenital Bile Acid Synthesis Defect Type 4	Cholestatic liver disease, Giant cell hepatitis, Cholelithiasis, Elevated circulating hepatic tra...	ORPHA:79095
Hepatorenocardiac Degenerative Fibrosis	Hepatic bridging fibrosis, Elevated circulating hepatic transaminase concentration, Hypertrophic ...	OMIM:619902
Hemochromatosis, Type 2A	Increased circulating iron concentration, Increased circulating ferritin concentration, Splenomeg...	OMIM:602390
Immunodeficiency 31C	Chronic mucocutaneous candidiasis, Eczematoid dermatitis, Decreased lymphocyte proliferation in r...	OMIM:614162
Glycogen Storage Disease With Severe Cardiomyopathy Due To Glycogenin Deficiency	Cardiomyopathy, Palpitations, T-wave inversion, Arrhythmia, Ventricular tachycardia, Ventricular ...	ORPHA:263297
Lymphedema And Cerebral Arteriovenous Anomaly	Pulmonary arterial hypertension	OMIM:152900
Mixed Connective Tissue Disease	Hemolytic anemia, Leukopenia, Pleuritis, Skin rash, Splenomegaly, Scleroderma, Myositis, Hepatome...	ORPHA:809
Bathing Suit Ichthyosis	Thickened skin, Ichthyosis, Parakeratosis, Palmoplantar hyperkeratosis, Scaling skin, Congenital ...	ORPHA:100976
Trichodysplasia-Xeroderma Syndrome	Dry skin	ORPHA:3361
Cardiac Arrhythmia, Ankyrin-B-Related	Sinus bradycardia, Syncope, Prolonged QT interval, Atrial fibrillation, Sudden cardiac death	OMIM:600919
Bile Acid Synthesis Defect, Congenital, 2	Intrahepatic cholestasis, Hepatic failure, Elevated circulating hepatic transaminase concentratio...	OMIM:235555
Ichthyosis, Hystrix-Like, With Deafness	Palmoplantar keratoderma, Cobblestone-like hyperkeratosis, Ichthyosis, Palmoplantar hyperkeratosi...	OMIM:602540
Romano-Ward Syndrome	Abnormal T-wave, Torsade de pointes, Sinus bradycardia, Hypokalemia, Syncope, Ventricular arrhyth...	ORPHA:101016
Immunodeficiency, Common Variable, 12, With Autoimmunity	Atrophic gastritis, Recurrent pneumonia, Decreased circulating antibody level, Autoimmune hemolyt...	OMIM:616576
Gaucher Disease, Type Iii	Pancytopenia, Splenomegaly, Decreased body weight, Decreased beta-glucocerebrosidase level, Throm...	OMIM:231000
Follicular Lymphoma	Pleural effusion, Splenomegaly, Weight loss, Lymphadenopathy, Abnormal peritoneum morphology, Med...	ORPHA:545
Fetal Hemoglobin Quantitative Trait Locus 1	Persistence of hemoglobin F	OMIM:141749
Darier Disease	Thickened skin, Palmoplantar keratoderma, Subungual hyperkeratotic fragments, Skin vesicle, Acrok...	ORPHA:218
Portal Hypertension, Noncirrhotic, 2	Nodular regenerative hyperplasia of liver, Epistaxis, Elevated circulating hepatic transaminase c...	OMIM:619463
Odontoonychodermal Dysplasia	Erythema, Orthokeratosis, Hypergranulosis, Dry skin, Palmoplantar erythema, Palmoplantar hyperker...	OMIM:257980
Vitamin B12-Responsive Methylmalonic Acidemia	Anemia, Hepatomegaly, Hyperammonemia, Failure to thrive	ORPHA:28
Hereditary Spherocytosis	Spontaneous hemolytic crises, Cholelithiasis, Increased mean corpuscular hemoglobin concentration...	ORPHA:822
Familial Infantile Bilateral Striatal Necrosis	Astrocytosis, Basal ganglia gliosis	ORPHA:225154
Thanatophoric Dysplasia, Glasgow Variant	Anemia, Hepatosplenomegaly, Neonatal death	OMIM:273680
Infantile Liver Failure Syndrome 1	Elevated circulating hepatic transaminase concentration, Failure to thrive, Acute hepatic failure...	OMIM:615438
Schopf-Schulz-Passarge Syndrome	Dry skin, Palmoplantar keratoderma, Ectodermal dysplasia, Hyperkeratosis	OMIM:224750
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency	Acute hepatic steatosis, Hepatitis, Cholestasis, Increased LDL cholesterol concentration, Obesity...	ORPHA:209902
Transcobalamin Ii Deficiency	Decreased circulating IgG level, Failure to thrive, Pancytopenia, Decreased circulating IgA level...	OMIM:275350
Hypothyroidism, Congenital, Nongoitrous, 6	Dry skin	OMIM:614450
Aicardi-Goutieres Syndrome 4	Elevated circulating hepatic transaminase concentration, Hepatosplenomegaly, Pancytopenia, Spleno...	OMIM:610333
Mendelian Susceptibility To Mycobacterial Diseases Due To Partial Irf8 Deficiency	Lymphadenopathy	ORPHA:319600
Immune Dysregulation, Autoimmunity, And Autoinflammation	Abnormal circulating C-reactive protein concentration, Increased circulating interleukin 8 concen...	OMIM:620514
Mucopolysaccharidosis-Plus Syndrome	Hypoalbuminemia, Bone marrow hypocellularity, Nephritis, Recurrent pneumonia, Thickened skin, Rec...	OMIM:617303
Cholestasis-Lymphedema Syndrome	Portal hypertension, Splenomegaly, Neonatal cholestatic liver disease, Biliary tract abnormality,...	ORPHA:1414
Roifman Syndrome	Recurrent pneumonia, Eczematoid dermatitis, Recurrent otitis media, Hepatosplenomegaly, Eosinophi...	ORPHA:353298
Red Cell Phospholipid Defect With Hemolysis	Intermittent jaundice, Hyperbilirubinemia, Splenomegaly, Reticulocytosis	OMIM:179700
Aceruloplasminemia	Akinesia, Limb ataxia, Gait ataxia, Hypochromic microcytic anemia, Ataxia, Refractory anemia	ORPHA:48818
Retinal Dystrophy, Iris Coloboma, And Comedogenic Acne Syndrome	Comedonal acne, Follicular hyperkeratosis, Patent ductus arteriosus, Decreased retinol-binding pr...	OMIM:615147
Inflammatory Skin And Bowel Disease, Neonatal, 2	Polyhydramnios, Dehydration	OMIM:616069
Atelis Syndrome 1	Irregular hyperpigmentation, Eczematoid dermatitis, Decreased lymphocyte proliferation in respons...	OMIM:620184
Phenylketonuria	Dry skin	OMIM:261600
Hereditary Late-Onset Parkinson Disease	Shuffling gait, Akinesia, Agitation, Dysphagia, Impulsivity	ORPHA:411602
Congenital Disorder Of Glycosylation, Type Iij	Hepatic failure, Elevated circulating hepatic transaminase concentration, Failure to thrive, Sple...	OMIM:613489
Neuropathy, Congenital Hypomyelinating, 2	Inability to walk, Hypokinesia	OMIM:618184
Congenital Disorder Of Glycosylation, Type It	Intrahepatic cholestasis, Elevated circulating hepatic transaminase concentration, Hepatitis, Rec...	OMIM:614921
Systemic Mastocytosis With Associated Hematologic Neoplasm	Normocytic anemia, Elevated total serum tryptase, Pruritus, Chronic myelomonocytic leukemia, Leuk...	ORPHA:98849
Cardiomyopathy, Dilated, 1A	Dilated cardiomyopathy, Atrial flutter, Third degree atrioventricular block, Second degree atriov...	OMIM:115200
Polyarteritis Nodosa	Erythema, Cutis marmorata, Skin ulcer	ORPHA:767
Propionic Acidemia	Eczematoid dermatitis, Failure to thrive, Pancytopenia, Propionyl-CoA carboxylase deficiency, Hyp...	OMIM:606054
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells	Cutaneous anergy, Hypersplenism, Pancytopenia, Splenomegaly, Decreased helper T cell proportion	OMIM:183350
Caroli Disease	Elevated gamma-glutamyltransferase level, Cholestasis, Elevated circulating alkaline phosphatase ...	ORPHA:53035
Wiskott-Aldrich Syndrome 2	Eczematoid dermatitis, Decreased proportion of CD8-positive T cells, Defective T cell proliferati...	OMIM:614493
Seizures, Benign Familial Infantile, 1	Cyanosis	OMIM:601764
Transcobalamin Deficiency	Decreased circulating IgG level, Lymphopenia, Pancytopenia, Decreased circulating IgA level, Thro...	ORPHA:859
Pediatric Systemic Lupus Erythematosus	Discoid lupus rash, Nephritis, Increased circulating lactate dehydrogenase concentration, Microan...	ORPHA:93552
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency	Normocytic anemia, Cholelithiasis, Hyperbilirubinemia, Splenomegaly, Cholecystitis, Reticulocytos...	OMIM:235700
Short Qt Syndrome 1	Shortened QT interval, Paroxysmal atrial fibrillation, Palpitations, Syncope, Cardiac arrest, Sud...	OMIM:609620
Roifman Syndrome	Recurrent pneumonia, Eczematoid dermatitis, Recurrent otitis media, Splenomegaly, Eosinophilia, L...	OMIM:616651
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 1	Bone marrow hypocellularity, Reticular pattern on pulmonary HRCT, Usual interstitial pneumonia, A...	OMIM:614742
Combined Oxidative Phosphorylation Deficiency 6	Hypokinesia	OMIM:300816
Laryngeal Abductor Paralysis	Dysphagia, Cyanosis	OMIM:150260
Mutilating Palmoplantar Keratoderma With Periorificial Keratotic Plaques	Thickened skin, Palmoplantar keratoderma, Skin ulcer, Erythema	ORPHA:659
Osteopetrosis, Autosomal Recessive 8	Failure to thrive, Splenomegaly, Hepatomegaly, Thrombocytopenia, Anemia	OMIM:615085
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0	Hyperammonemia, Hepatomegaly, Pancreatitis, Thrombocytopenia, Neutropenia, Anemia	ORPHA:289916
Combined Oxidative Phosphorylation Deficiency 34	Hepatic failure, Failure to thrive, Elevated circulating creatinine concentration, Pancytopenia, ...	OMIM:617872
Ehlers-Danlos Syndrome With Platelet Dysfunction From Fibronectin Abnormality	Striae distensae, Bruising susceptibility, Petechiae, Thin skin	OMIM:225310
Congenital Hypothyroidism Due To Transplacental Passage Of Tsh-Binding Inhibitory Antibodies	Prolonged neonatal jaundice, Dry skin	ORPHA:95715
Autoinflammation With Pulmonary And Cutaneous Vasculitis	Recurrent upper respiratory tract infections, Interstitial pneumonitis, Splenomegaly, Hepatomegal...	OMIM:620296
Glutamine Deficiency, Congenital	Erythema, Neonatal death	OMIM:610015
Tangier Disease	Hypocholesterolemia, Hepatosplenomegaly, Chronic noninfectious lymphadenopathy, Left ventricular ...	ORPHA:31150
Autoinflammatory Disease, Systemic, X-Linked	Decreased circulating IgG level, Panuveitis, Osteomyelitis, Hepatosplenomegaly, Decreased circula...	OMIM:301081
Tyrosinemia Type 1	Acute hepatic failure, Hepatomegaly, Splenomegaly, Hepatocellular carcinoma	ORPHA:882
Pneumocystosis	Increased circulating lactate dehydrogenase concentration, Interstitial pneumonitis, Pleural effu...	ORPHA:723
Vitamin B12-Unresponsive Methylmalonic Acidemia	Leukopenia, Hyperammonemia, Macrocytic anemia, Hepatomegaly, Pancreatitis, Thrombocytopenia, Anemia	ORPHA:27
Combined Immunodeficiency Due To Crac Channel Dysfunction	Pneumonia, Splenomegaly, Lymphadenopathy, Thrombocytopenia, Hepatomegaly, Hemolytic anemia, Chron...	ORPHA:169090
Sarcoidosis, Susceptibility To, 2	Abnormal pulmonary interstitial morphology, Emphysema, Pleural effusion, Splenomegaly, Pneumothor...	OMIM:612387
Variegate Porphyria, Childhood-Onset	Fragile skin, Cutaneous photosensitivity, Epidermal hyperkeratosis	OMIM:620483
H Syndrome	Microcytic anemia, Hepatosplenomegaly, Psoriasiform dermatitis, Ichthyosis, Chronic rhinitis, Scl...	ORPHA:168569
Peroxisome Biogenesis Disorder 3B	Failure to thrive, Elevated circulating phytanic acid concentration, Hypocholesterolemia, Hepatom...	OMIM:266510
Muckle-Wells Syndrome	Recurrent aphthous stomatitis, Episcleritis, Skin rash, Splenomegaly, Ichthyosis, Hepatomegaly, A...	ORPHA:575
Medium Chain 3-Ketoacyl-Coa Thiolase Deficiency	Dehydration, Neonatal death	OMIM:602199
Behavioral Variant Of Frontotemporal Dementia	Astrocytosis	ORPHA:275864
Ichthyosis Prematurity Syndrome	Polyhydramnios, Follicular hyperkeratosis, Generalized ichthyosis, Dermatographic urticaria	OMIM:608649
Fixed Drug Eruption	Erythema, Generalized abnormality of skin	ORPHA:293812
Pleural Mesothelioma	Abnormal pleura morphology, Pleural effusion, Weight loss, Lymphadenopathy, Hepatomegaly, Abnorma...	ORPHA:50251
Spondyloenchondrodysplasia	Pneumonia, Granuloma, Hepatitis, Pancytopenia, Vitiligo, Skin rash, Autoimmune hemolytic anemia, ...	ORPHA:1855
Acne Inversa, Familial, 2, With Or Without Dowling-Degos Disease	Acne inversa, Chronic furunculosis, Follicular hyperkeratosis, Perifolliculitis, Recurrent cutane...	OMIM:613736
Congenital Bile Acid Synthesis Defect Type 3	Hepatic failure, Cholestasis, Elevated circulating aspartate aminotransferase concentration, Hepa...	ORPHA:79302
Cardiomyopathy, Dilated, 1Nn	Dilated cardiomyopathy, Congestive heart failure, Reduced left ventricular ejection fraction, Mit...	OMIM:615916
Immunodeficiency, Ovarian Dysgenesis, And Pulmonary Fibrosis	Decreased circulating IgG level, Decreased proportion of CD8-positive T cells, Decreased circulat...	OMIM:611926
Hereditary Amyloidosis With Primary Renal Involvement	Decreased liver function, Abnormal lymph node morphology, Elevated circulating creatinine concent...	ORPHA:85450
Iga Pemphigus	Skin vesicle, Acantholysis, Generalized abnormality of skin	ORPHA:555905
Mitochondrial Complex I Deficiency, Nuclear Type 28	Truncal ataxia, Akinesia, Choreoathetosis	OMIM:618249
Neutropenia, Severe Congenital, 1, Autosomal Dominant	Acute monocytic leukemia, Congenital agranulocytosis, Thrombocytosis, Increased circulating antib...	OMIM:202700
Protoporphyria, Erythropoietic, X-Linked	Cholelithiasis, Iron deficiency anemia, Elevated circulating hepatic transaminase concentration	OMIM:300752
Hepatitis, Fulminant Viral, Susceptibility To	Hepatic failure, Elevated circulating hepatic transaminase concentration, Hashimoto thyroiditis, ...	OMIM:618549
Craniofaciofrontodigital Syndrome	Lower eyelid edema, Premature skin wrinkling, Palmoplantar cutis laxa, Cutis laxa, Prominent supe...	ORPHA:363705
Olmsted Syndrome 2	Palmoplantar keratoderma, Perioral hyperkeratosis, Parakeratosis, Palmoplantar hyperkeratosis, Hy...	OMIM:619208
Acute Radiation Syndrome	Inflammatory abnormality of the skin, Hypopigmentation of the skin, Lymphopenia, Interstitial pne...	ORPHA:454831
Congenital Pulmonary Lymphangiectasia	Congestive heart failure, Tricuspid regurgitation, Splenomegaly, Pulmonary arterial hypertension,...	ORPHA:2414
Mcleod Syndrome	Elevated gamma-glutamyltransferase level, Increased circulating lactate dehydrogenase concentrati...	OMIM:300842
Galactokinase Deficiency	Small for gestational age, Failure to thrive, Reduced circulating complement concentration, Hepat...	ORPHA:79237
Chronic Mucocutaneous Candidiasis	Cheilitis, Hepatitis, Skin rash, Recurrent respiratory infections, Pruritus, Hyperkeratosis	ORPHA:1334
Spinocerebellar Ataxia Type 12	Hypokinesia, Limb dysmetria, Gait disturbance, Ataxia, Unsteady gait	ORPHA:98762
Hypocomplementemic Urticarial Vasculitis	Irregular hyperpigmentation, Ascites, Reduced circulating complement concentration, Emphysema, Ep...	ORPHA:36412
Ifap Syndrome 2	Ichthyosis follicularis, Perioral erythema	OMIM:619016
Cholestasis, Progressive Familial Intrahepatic, 8	Hepatic bridging fibrosis, Hepatic fibrosis, Elevated gamma-glutamyltransferase level, Cholestasi...	OMIM:619662
Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige	Hypoalbuminemia, Palmoplantar keratoderma, Orthokeratosis, Failure to thrive, Hypergranulosis, In...	OMIM:615508
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis	Decreased circulating IgG level, Failure to thrive, Atelectasis, Hepatocellular necrosis, Pulmona...	OMIM:618278
Muscular Dystrophy, Congenital, Davignon-Chauveau Type	Dry skin	OMIM:617066
Severe Combined Immunodeficiency Due To Dclre1C Deficiency	Decreased circulating IgG level, Failure to thrive, Recurrent aphthous stomatitis, Vitiligo, Decr...	ORPHA:275
Methylmalonic Aciduria And Homocystinuria, Cblf Type	Cystathioninemia, Small for gestational age, Failure to thrive, Elevated circulating propionylcar...	OMIM:277380
Atrial Fibrillation, Familial, 14	Paroxysmal atrial fibrillation, Prolonged PR interval, ST segment elevation, Hypertension	OMIM:615378
Recon Progeroid Syndrome	Progeroid facial appearance, Dry skin, Livedo reticularis, Scaling skin, Cutaneous photosensitivi...	OMIM:620370
Familial Keratoacanthoma	Hyperkeratosis, Skin ulcer	ORPHA:493
Developmental And Epileptic Encephalopathy 37	Gait disturbance, Hypokinesia, Choreoathetosis	OMIM:616981
Cutis Laxa, Autosomal Dominant 3	Dermal translucency, Cutis laxa, Premature skin wrinkling	OMIM:616603
Lymphatic Malformation 12	Fetal ascites, Lymphedema, Nonimmune hydrops fetalis, Neonatal death, Polyhydramnios, Hyperkeratosis	OMIM:620014
Hyper-Ige Syndrome 4B, Autosomal Recessive, With Recurrent Infections	Keratitis, Eczematoid dermatitis, Recurrent otitis media, Increased circulating IgE level, Eosino...	OMIM:618523
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism	Hepatic fibrosis, Hepatitis, Pancreatic hypoplasia, Cholestasis, Portal hypertension, Splenic cys...	OMIM:610199
Glycogen Storage Disease Ixb	Splenomegaly, Hyperuricemia, Increased hepatic glycogen content, Hepatomegaly, Reduced hepatic ph...	OMIM:261750
Alstrom Syndrome	Nephritis, Recurrent pneumonia, Elevated circulating hepatic transaminase concentration, Pigmenta...	OMIM:203800
Immunodeficiency 110 With Lymphoproliferation	Recurrent pneumonia, Recurrent upper respiratory tract infections, Chronic mucocutaneous candidia...	OMIM:614868
Autosomal Dominant Severe Congenital Neutropenia	Pneumonia, Periodontitis, Aplastic anemia, Lymphopenia, Recurrent aphthous stomatitis, Acute lymp...	ORPHA:486
Inflammatory Skin And Bowel Disease, Neonatal, 1	Perioral erythema, Perianal erythema	OMIM:614328
Wilson Disease	Hypouricemia, Acute hepatic failure, Hyperbilirubinemia, Hepatic steatosis, Cirrhosis, Elevated c...	OMIM:277900
Polyhydramnios, Megalencephaly, And Symptomatic Epilepsy	Astrocytosis	OMIM:611087
Kawasaki Disease	Hypoalbuminemia, Hepatitis, Abnormal pulmonary interstitial morphology, Cervical lymphadenopathy,...	ORPHA:2331
Kyphoscoliotic Ehlers-Danlos Syndrome Due To Fkbp22 Deficiency	Follicular hyperkeratosis, Bruising susceptibility	ORPHA:300179
Idiopathic Chronic Eosinophilic Pneumonia	Atopic dermatitis, Atelectasis, Increased circulating IgE level, Hypereosinophilia, Leukocytosis,...	ORPHA:2902
Fetal Gaucher Disease	Abnormality of the spleen, Pancytopenia, Splenomegaly, Ichthyosis, Neonatal death, Thrombocytopen...	ORPHA:85212
Arthrogryposis Multiplex Congenita 5	Normocytic anemia, Premature skin wrinkling, Akinesia, Acanthocytosis, Death in infancy, Poikiloc...	OMIM:618947
Short Syndrome	Prominent superficial veins, Premature skin wrinkling, Reduced subcutaneous adipose tissue, Thin ...	OMIM:269880
Cardiomyopathy, Familial Hypertrophic, 4	Atrioventricular block, Congestive heart failure, Hypertrophic cardiomyopathy, Reduced left ventr...	OMIM:115197
Galactose Mutarotase Deficiency	Failure to thrive, Decreased liver function, Cholestasis, Abnormal circulating enzyme concentrati...	ORPHA:570422
Microlissencephaly	Pneumonia	ORPHA:1083
Loeffler Endocarditis	Aortic valve stenosis, Aortic regurgitation, Restrictive cardiomyopathy, Congestive heart failure...	ORPHA:75566
Neurodevelopmental Disorder With Language Delay And Variable Cognitive Abnormalities	Dry skin	OMIM:620502
Neurodegeneration With Brain Iron Accumulation 1	Phonic tics, Akinesia, Acanthocytosis, Obsessive-compulsive trait, Motor tics, Gait disturbance, ...	OMIM:234200
Cryofibrinogenemia, Familial Primary	Acrocyanosis	OMIM:123540
Leptospirosis	Uveitis, Hepatitis, Pulmonary hemorrhage, Pleural effusion, Skin rash, Elevated serum transaminas...	ORPHA:509
Beta-Thalassemia Major	Hepatic fibrosis, Abnormality of iron homeostasis, Reduced hemoglobin A, Extramedullary hematopoi...	ORPHA:231214
Ichthyosis, Congenital, Autosomal Recessive 9	Congenital nonbullous ichthyosiform erythroderma, Orthokeratosis, Hyperkeratosis, Hypergranulosis	OMIM:615023
Keratoderma Hereditarium Mutilans	Self-injurious behavior, Hyperkeratosis, Ichthyosis, Honeycomb palmoplantar hyperkeratosis	ORPHA:494
Gallbladder Disease 1	Hepatic fibrosis, Cholelithiasis, Elevated circulating hepatic transaminase concentration, Portal...	OMIM:600803
Immunodeficiency 96	Decreased circulating IgG level, Increased proportion of gamma-delta T cells, Increased mean corp...	OMIM:619774
Eosinophilic Gastroenteritis	Allergic rhinitis, Atopic dermatitis, Hypoalbuminemia, Ascites, Leukocytosis, Eosinophilia, Weigh...	ORPHA:2070
Aapoaiv Amyloidosis	Atrial flutter, Hypertrophic cardiomyopathy, Elevated circulating creatinine concentration, Hyper...	ORPHA:439232
Castleman Disease	Increased circulating interleukin 6 concentration, Follicular hyperplasia, Abdominal mass, Genera...	ORPHA:160
Zygomycosis	Pustule, Acute infectious pneumonia, Neutropenia, Endocarditis, Unusual skin infection, Pleural e...	ORPHA:73263
Acrokeratoelastoidosis Of Costa	Hyperkeratotic papule, Palmoplantar hyperkeratosis, Orthokeratosis, Hypergranulosis	ORPHA:38
Lysinuric Protein Intolerance	Intraalveolar phospholipid accumulation, Hemophagocytosis, Failure to thrive, Increased circulati...	OMIM:222700
Multiple Pterygium Syndrome, Lethal Type	Akinesia	OMIM:253290
Bone Marrow Failure Syndrome 3	Bone marrow hypocellularity, Aplastic anemia, Eczematoid dermatitis, Increased mean corpuscular v...	OMIM:617052
Chronic Granulomatous Disease	Eczematoid dermatitis, Recurrent respiratory infections, Otitis media, Splenomegaly, Hepatomegaly...	ORPHA:379
Good Syndrome	Thymoma, Aplasia/Hypoplasia of the thymus, Decreased circulating antibody level, Abnormal leukocy...	ORPHA:169105
Severe X-Linked Mitochondrial Encephalomyopathy	Hypokinesia	ORPHA:238329
Familial Dilated Cardiomyopathy With Conduction Defect Due To Lmna Mutation	Atrial fibrillation, Dilated cardiomyopathy, Sinoatrial block, Atrial flutter, Congestive heart f...	ORPHA:300751
Angioedema, Hereditary, 1	Erythema, Angioedema, Laryngeal edema, Intestinal edema, Periorbital edema, Pharyngeal edema	OMIM:106100
Fusariosis	Pneumonia, Keratitis, Granuloma, Brain abscess, Fasciitis, Abnormality of the spleen, Osteomyelit...	ORPHA:228119
Amyloidosis, Hereditary Systemic 2	Cholestasis, Splenomegaly, Skin rash, Hepatomegaly	OMIM:105200
Kaposi Sarcoma	Abnormality of the spleen, Abnormality of the liver, Skin rash, Generalized lymphadenopathy, Weig...	ORPHA:33276
Immunodeficiency 61	Recurrent otitis media, Obesity, Decreased circulating IgG2 level, Recurrent sinusitis, Decreased...	OMIM:300310
Combined Malonic And Methylmalonic Acidemia	Dehydration	ORPHA:289504
Mucopolysaccharidosis Type 7	Hepatitis, Ascites, Abnormal pleura morphology, Splenomegaly, Recurrent respiratory infections	ORPHA:584
Geroderma Osteodysplasticum	Cutis laxa, Progeroid facial appearance, Neonatal wrinkled skin of hands and feet, Premature skin...	OMIM:231070
Erythrocytosis, Familial, 1	Increased circulating hemoglobin concentration, Increased hematocrit, Splenomegaly, Increased red...	OMIM:133100
Anemia, Congenital Dyserythropoietic, Type Ii	Cholelithiasis, Splenomegaly, Anemia of inadequate production, Reticulocytosis, Jaundice, Reduced...	OMIM:224100
High Altitude Pulmonary Edema	Hypoxemia, Leukocytosis, Cyanosis, Anorexia	ORPHA:330012
Transient Neonatal Diabetes Mellitus	Dehydration	ORPHA:99886
Maternal Uniparental Disomy Of Chromosome 4	Pigmentary retinopathy, Hypocholesterolemia, Abnormal erythrocyte morphology, Acanthocytosis, Abe...	ORPHA:96180
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1	Pneumonia, Reduced natural killer cell count, Failure to thrive, Decreased circulating IgA level,...	OMIM:242860
Immunodeficiency, Common Variable, 14	Decreased circulating IgG level, Defective B cell differentiation, Decreased circulating IgA leve...	OMIM:617765
Polycythemia Vera	Epistaxis, Acute leukemia, Gastrointestinal hemorrhage, Pulmonary embolism, Polycythemia, Budd-Ch...	ORPHA:729
Hepatic Veno-Occlusive Disease	Elevated circulating hepatic transaminase concentration, Increased total bilirubin, Ascites, Incr...	ORPHA:890
Osteopetrosis, Autosomal Recessive 1	Increased circulating lactate dehydrogenase concentration, Failure to thrive, Osteomyelitis, Panc...	OMIM:259700
Congenital Disorder Of Glycosylation, Type Ih	Hypoalbuminemia, Failure to thrive, Decreased liver function, Ascites, Cholestasis, Elevated circ...	OMIM:608104
Short Qt Syndrome 7	Shortened QT interval, Syncope, Ventricular fibrillation, Cardiac arrest, Sudden cardiac death	OMIM:620231
Atrial Septal Defect, Ostium Secundum Type	Right ventricular failure, Atrial flutter, Congestive heart failure, Tricuspid regurgitation, Bun...	ORPHA:99103
Postinfectious Vasculitis	Pneumonia, Bacterial endocarditis, Abnormality of humoral immunity, Inflammatory abnormality of t...	ORPHA:48435
Drug-Induced Lupus Erythematosus	Malar rash, Elevated circulating creatine kinase concentration, Serositis, Decreased circulating ...	ORPHA:231111
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 2	Hepatomegaly, Sideroblastic anemia, Elevated circulating hepatic transaminase concentration, Fail...	OMIM:613561
Cold Agglutinin Disease	Hepatomegaly, Hemolytic anemia, Splenomegaly, Lymphadenopathy	ORPHA:56425
Beta-Mercaptolactate Cysteine Disulfiduria	Dry skin	ORPHA:1035
Keratosis Follicularis Spinulosa Decalvans, Autosomal Dominant	Facial erythema, Palmoplantar keratoderma	OMIM:612843
Leopard Syndrome 3	Webbed neck, Dry skin	OMIM:613707
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts	Increased circulating iron concentration, Elevated circulating hepatic transaminase concentration...	ORPHA:300298
Cholestasis, Progressive Familial Intrahepatic, 1	Cholelithiasis, Failure to thrive, Splenomegaly, Cirrhosis, Intrahepatic cholestasis with episodi...	OMIM:211600
Cryptogenic Organizing Pneumonia	Neutrophilia, Leukocytosis, Cyanosis, Anorexia, Hypoxemia	ORPHA:1302
Immunoglobulin A Vasculitis	Erythema, Skin ulcer, Vascular skin abnormality, Angioedema, Bruising susceptibility, Anorexia, P...	ORPHA:761
Familial Renal Glucosuria	Dehydration	ORPHA:69076
Meige Disease	Facial edema, Predominantly lower limb lymphedema, Skin ulcer, Lymphedema, Cobblestone-like hyper...	ORPHA:90186
Intellectual Developmental Disorder, Fra12A Type	Hyperkeratosis	OMIM:136630
Amoebiasis Due To Entamoeba Histolytica	Hypoalbuminemia, Elevated circulating hepatic transaminase concentration, Leukocytosis, Pleural e...	ORPHA:67
Proliferative Vasculopathy And Hydranencephaly-Hydrocephaly Syndrome	Akinesia	OMIM:225790
Acute Interstitial Pneumonia	Reticulonodular pattern on pulmonary HRCT, Atelectasis, Interlobular septal thickening, Elevated ...	ORPHA:79126
Spinocerebellar Ataxia, Autosomal Recessive 21	Hepatic bridging fibrosis, Hepatic fibrosis, Hepatic failure, Splenomegaly, Hepatomegaly	OMIM:616719
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome	Dry skin	ORPHA:3085
White Sponge Nevus 2	Hyperparakeratosis, Edema	OMIM:615785
Thymoma	Rheumatoid arthritis, Aplastic anemia, Imbalanced hemoglobin synthesis, Scleroderma, Myositis, Ab...	ORPHA:99867
Brown-Vialetto-Van Laere Syndrome 2	Aggressive behavior, Dysphagia, Hypokinesia, Ataxia	OMIM:614707
Parenteral Nutrition-Associated Cholestasis	Hepatic fibrosis, Cholelithiasis, Hepatic failure, Elevated circulating hepatic transaminase conc...	ORPHA:567983
Isolated Congenital Hypoglossia/Aglossia	Weight loss, Aspiration pneumonia	ORPHA:141152
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy	Hypoalbuminemia, Intestinal lymphangiectasia, Ascites, Hepatomegaly, Iron deficiency anemia, Thro...	OMIM:226300
Shigellosis	Pneumonia, Hepatic failure, Microangiopathic hemolytic anemia, Ulcerative colitis, Cholestasis, F...	ORPHA:810
Immunodeficiency, Developmental Delay, And Hypohomocysteinemia	Hypohomocysteinemia, Failure to thrive, Hypocystinemia, Decreased circulating IgA level, Decrease...	OMIM:617744
Mercaptolactate-Cysteine Disulfiduria	Hypokinesia	OMIM:249650
Ramon Syndrome	Telangiectasia of the skin, Hyperkeratosis	ORPHA:3019
Poems Syndrome	Thickened skin, Abnormality of skin physiology, Visceromegaly, Polycythemia, Ascites, Pleural eff...	ORPHA:2905
Acrokeratosis Verruciformis Of Hopf	Hyperkeratosis, Punctate palmoplantar hyperkeratosis, Hypergranulosis	ORPHA:79151
Familial Isolated Restrictive Cardiomyopathy	Abnormal left ventricular function, Tricuspid regurgitation, Hypertrophic cardiomyopathy, Mitral ...	ORPHA:75249
Alveolar Echinococcosis	Pulmonary cyst, Biliary cirrhosis, Cutaneous abscess, Decreased liver function, Abnormal mesenter...	ORPHA:284
Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency	Spontaneous hemolytic crises, Cholelithiasis, Pigment gallstones, Decreased glucosephosphate isom...	OMIM:613470
Diffuse Neonatal Hemangiomatosis	Ascites, Hepatomegaly, Thrombocytopenia, Anemia, Hypercalcemia, Patent ductus arteriosus	ORPHA:2123
Specific Granule Deficiency 2	Recurrent pneumonia, Failure to thrive, Recurrent otitis media, Absent neutrophil specific granul...	OMIM:617475
Subacute Inflammatory Demyelinating Polyneuropathy	Increased circulating IgG level, Leukocytosis	ORPHA:206594
Subcutaneous Panniculitis-Like T-Cell Lymphoma	Hepatosplenomegaly, Panniculitis, Weight loss, Hemophagocytosis	ORPHA:86884
Idiopathic Pulmonary Arterial Hypertension	Congestive heart failure, Tricuspid regurgitation, Palpitations, Increased pulmonary vascular res...	ORPHA:275766
Immunodeficiency 93 And Hypertrophic Cardiomyopathy	Decreased circulating IgG level, Crohn's disease, Agammaglobulinemia, Absent circulating B cells,...	OMIM:619705
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)	Hypoalbuminemia, Depletion of mitochondrial DNA in liver, Hepatic failure, Periportal fibrosis, E...	OMIM:251880
Isolated Biliary Atresia	Elevated gamma-glutamyltransferase level, Periportal fibrosis, Elevated circulating hepatic trans...	ORPHA:30391
Acute Erythroid Leukemia	Bone marrow hypocellularity, Monoclonal immunoglobulin M proteinemia, Pancytopenia, Leukopenia, E...	ORPHA:318
Reynolds Syndrome	Elevated circulating hepatic transaminase concentration, Biliary cirrhosis, Cholestasis, Lymphope...	OMIM:613471
Generalized Pustular Psoriasis	Hypoalbuminemia, Elevated circulating hepatic transaminase concentration, Lymphopenia, Obesity, L...	ORPHA:247353
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency	Hepatic fibrosis, Portal fibrosis, Elevated circulating hepatic transaminase concentration, Failu...	ORPHA:264580
Neonatal Ichthyosis-Sclerosing Cholangitis Syndrome	Cholestasis, Portal hypertension, Splenomegaly, Ichthyosis, Acanthosis nigricans, Hepatomegaly, J...	ORPHA:59303
Combined Immunodeficiency-Enteropathy Spectrum	Peritoneal abscess, Thickened skin, Congenital pulmonary airway malformation, Hepatitis, Psoriasi...	ORPHA:436252
Alpha-N-Acetylgalactosaminidase Deficiency Type 1	Telangiectasia, Telangiectasia of the skin, Hyperkeratosis, Lymphedema	ORPHA:79279
Transaldolase Deficiency	Hepatic fibrosis, Small for gestational age, Micronodular cirrhosis, Decreased liver function, Fa...	OMIM:606003
Neonatal Severe Primary Hyperparathyroidism	Hepatomegaly, Splenomegaly	ORPHA:417
Adenocarcinoma Of The Esophagus	Obesity, Lymphadenopathy	ORPHA:99976
Proteasome-Associated Autoinflammatory Syndrome 4	Autoimmune hemolytic anemia, Splenomegaly, Myositis, Lymphadenopathy, Hepatomegaly, Panniculitis	OMIM:619183
Sclerosing Cholangitis, Neonatal	Hepatic bridging fibrosis, Elevated gamma-glutamyltransferase level, Hepatic failure, Portal fibr...	OMIM:617394
Congenital Disorder Of Glycosylation, Type If	Dry skin, Scaling skin, Death in infancy	OMIM:609180
Combined Oxidative Phosphorylation Deficiency 2	Hypokinesia, Neonatal death	OMIM:610498
Retinal Telangiectasia And Hypogammaglobulinemia	Reduced delayed hypersensitivity, Decreased circulating IgG level	OMIM:267900
Hyperimmunoglobulinemia D With Periodic Fever	Erythema, Acrocyanosis, Purpura, Urticaria	ORPHA:343
Hemolytic Disease Of Fetus And Newborn, Rh-Induced	Hepatomegaly, Fetal ascites, Splenomegaly	OMIM:619462
Hereditary Methemoglobinemia	Methemoglobinemia, Athetosis, Cyanosis	ORPHA:621
Combined Oxidative Phosphorylation Deficiency 53	Failure to thrive, Osteomyelitis, Hepatomegaly, Elevated circulating C-reactive protein concentra...	OMIM:619423
Beta-Ketothiolase Deficiency	Edema, Pallor, Agitation, Oral aversion, Anorexia, Dehydration	ORPHA:134
Immunodeficiency 13	Recurrent pneumonia, Recurrent upper respiratory tract infections, Recurrent otitis media, Lympho...	OMIM:615518
Chylomicron Retention Disease	Hypoalbuminemia, Hypotriglyceridemia, Failure to thrive, Hypocholesterolemia, Decreased LDL chole...	OMIM:246700
Tick-Borne Encephalitis	Myelitis, Elevated circulating hepatic transaminase concentration, Leukopenia, Leukocytosis, Abno...	ORPHA:297
Congenital Isolated Acth Deficiency	Prolonged neonatal jaundice, Decreased circulating cortisol level, Hyponatremia, Hepatitis	ORPHA:199296
Epidermolysis Bullosa, Lethal Acantholytic	Acantholysis, Neonatal death	OMIM:609638
Combined Cellular And Humoral Immune Defects With Granulomas	Decreased circulating IgG level, Recurrent respiratory infections, T lymphocytopenia, B lymphocyt...	OMIM:233650
Coproporphyria, Hereditary	Hepatomegaly, Jaundice, Splenomegaly	OMIM:121300
Atrial Septal Defect, Ostium Primum Type	Fixed splitting of the second heart sound, Atrioventricular block, Atrial flutter, Right-to-left ...	ORPHA:99106
Ddost-Cdg	Dry skin	ORPHA:300536
Staphylococcal Necrotizing Pneumonia	Pneumonia, Leukopenia, Leukocytosis, Pleural effusion, Pneumothorax, Acute infectious pneumonia, ...	ORPHA:36238
Mednik Syndrome	Intrahepatic cholestasis, Ichthyosis, Decreased circulating ceruloplasmin concentration, Decrease...	ORPHA:171851
Niemann-Pick Disease, Type C1	Fetal ascites, Sea-blue histiocytosis, Splenomegaly, Fatal liver failure in infancy, Prolonged ne...	OMIM:257220
Inflammatory Pseudotumor Of The Liver	Elevated circulating aspartate aminotransferase concentration, Biliary tract abnormality, Increas...	ORPHA:90003
Immunodeficiency 81	Abnormally low T cell receptor excision circle level, Decreased proportion of CD4-positive T cell...	OMIM:619374
Ectodermal Dysplasia 15, Hypohidrotic/Hair Type	Dry skin	OMIM:618535
Gaucher Disease Type 2	Hepatomegaly, Recurrent respiratory infections, Splenomegaly	ORPHA:77260
Pili Torti-Onychodysplasia Syndrome	Dry skin, Ectodermal dysplasia	ORPHA:2890
Caroli Syndrome	Hypersplenism, Hyperbilirubinemia, Congenital hepatic fibrosis, Elevated circulating alkaline pho...	ORPHA:480520
Congenital Muscular Dystrophy-Respiratory Failure-Skin Abnormalities-Joint Hyperlaxity Syndrome	Dry skin	ORPHA:486815
Xeroderma Pigmentosum, Complementation Group F	Erythema, Cutaneous photosensitivity	OMIM:278760
Slc35A1-Cdg	Pneumonia, Giant platelets, Pulmonary hemorrhage, Abnormal platelet granules, Thrombocytopenia, N...	ORPHA:238459
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency	Hepatic fibrosis, Portal fibrosis, Elevated circulating hepatic transaminase concentration, Failu...	ORPHA:369
Congenital Tricuspid Stenosis	Hypotension, Congestive heart failure, Tricuspid regurgitation, Pulmonary arterial hypertension, ...	ORPHA:95459
Naxos Disease	Subungual hyperkeratosis, Palmoplantar keratoderma, Diffuse palmoplantar hyperkeratosis, Fragile ...	OMIM:601214
Combined Immunodeficiency Due To Partial Rag1 Deficiency	Interstitial pneumonitis, Splenomegaly, Autoimmune hemolytic anemia, Neutropenia in presence of a...	ORPHA:231154
Mednik Syndrome	Erythema, Death in childhood, Death in infancy, Neonatal death	OMIM:609313
Fish-Eye Disease	Hepatomegaly, Decreased HDL cholesterol concentration, Splenomegaly, Lymphadenopathy	ORPHA:79292
Acetophenetidin Sensitivity	Methemoglobinemia, Hemolytic anemia	OMIM:200300
Hyper-Ige Syndrome 6, Autosomal Dominant, With Recurrent Infections	Atopic dermatitis, Increased circulating IgE level, Eosinophilic infiltration of the esophagus, E...	OMIM:620532
Glycogen Storage Disease Iii	Hepatic fibrosis, Elevated circulating hepatic transaminase concentration, Hyperlipidemia, Elevat...	OMIM:232400
Moynahan Syndrome	Hyperkeratosis	ORPHA:2574
Cardiomyopathy-Hypotonia-Lactic Acidosis Syndrome	Cyanosis	ORPHA:91130
Peripartum Cardiomyopathy	Dilated cardiomyopathy, Right ventricular failure, Cardiogenic shock, Sinus tachycardia, Congesti...	ORPHA:563
Lipoyltransferase 1 Deficiency	Pulmonary arterial hypertension, Decreased liver function, Elevated circulating hepatic transamin...	OMIM:616299
Trichothiodystrophy 6, Nonphotosensitive	Dry skin, Cutaneous photosensitivity	OMIM:616943
Autoinflammatory Syndrome, Familial, Behcet-Like 1	Lymphopenia, Skin rash, Thrombocytopenia, Colitis, Hemolytic anemia, Anterior uveitis	OMIM:616744
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Recessive	Hypoalbuminemia, Elevated gamma-glutamyltransferase level, Elevated circulating hepatic transamin...	OMIM:242150
Rhizomelic Chondrodysplasia Punctata	Dry skin	ORPHA:177
Laryngotracheoesophageal Cleft	Cyanosis, Choking episodes, Impaired oropharyngeal swallow response	ORPHA:2004
Pulmonary Fibrosis-Hepatic Hyperplasia-Bone Marrow Hypoplasia Syndrome	Bone marrow hypocellularity, Abnormality of the hepatic vasculature, Nodular regenerative hyperpl...	ORPHA:210136
Chronic Nonbacterial Osteomyelitis/Chronic Recurrent Multifocal Osteomyelitis	Inflammation of the large intestine, Osteomyelitis, Psoriasiform dermatitis, Skin rash, Palmoplan...	ORPHA:324964
Progressive Supranuclear Palsy-Corticobasal Syndrome	Dysphagia, Diminished movement	ORPHA:240103
Dengue Fever	Ascites, Leukopenia, Skin rash, Thrombocytopenia, Hepatomegaly, Pruritus, Hypoproteinemia	ORPHA:99828
Immunodeficiency 86	Decreased circulating IgG level, Impaired oxidative burst, Increased circulating IgM level	OMIM:619549
Intellectual Developmental Disorder, Autosomal Recessive 41	Hepatomegaly, Recurrent pneumonia, Splenomegaly	OMIM:615637
Lymphoma, Hodgkin, Classic	Polyclonal elevation of IgM, Impaired lymphocyte transformation with phytohemagglutinin	OMIM:236000
Insulin Autoimmune Syndrome	Acanthosis nigricans, Weight loss, Increased circulating antibody level, Arthralgia/arthritis	ORPHA:411593
Bone Marrow Failure Syndrome 6	Bone marrow hypocellularity, Increased mean corpuscular volume, Persistence of hemoglobin F, Lymp...	OMIM:618849
Macroglobulinemia, Waldenstrom, Susceptibility To, 1	Leukemia, Monoclonal immunoglobulin M proteinemia, Polyclonal elevation of IgM, Impaired lymphocy...	OMIM:153600
Mitochondrial Complex Iv Deficiency, Nuclear Type 4	Failure to thrive, Elevated circulating aspartate aminotransferase concentration, Decreased plasm...	OMIM:619048
Intermediate Nemaline Myopathy	Difficulty walking, Dysphagia, Hypokinesia	ORPHA:171433
Immunodeficiency 87 And Autoimmunity	Elevated gamma-glutamyltransferase level, Cholestasis, Lymphopenia, Decreased CD4:CD8 ratio, Hepa...	OMIM:619573
Olmsted Syndrome 1	Subungual hyperkeratosis, Orthokeratosis, Palmoplantar keratoderma, Hyperparakeratosis, Periorifi...	OMIM:614594
Eosinophilia, Familial	Leukocytosis, Recurrent bronchitis, Eosinophilia, Thrombocytopenia, Anemia	OMIM:131400
Interstitial Lung Disease 2	Pulmonary arterial hypertension, Cirrhosis	OMIM:178500
Parkinson Disease 23, Autosomal Recessive Early-Onset	Akinesia	OMIM:616840
Interstitial Lung And Liver Disease	Hepatic fibrosis, Hepatic failure, Elevated gamma-glutamyltransferase level, Intraalveolar phosph...	OMIM:615486
Noonan Syndrome 8	Eczematoid dermatitis, Failure to thrive, Large for gestational age, Pleural effusion, Left ventr...	OMIM:615355
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations	Pneumonia, Normocytic anemia, Abnormality of the hepatic vasculature, Nodular regenerative hyperp...	ORPHA:247691
Enteric Anendocrinosis	Dehydration	ORPHA:83620
Neurodevelopmental Disorder With Impaired Language And Ataxia And With Or Without Seizures	Inability to walk, Recurrent hand flapping, Gait ataxia, Cyanosis, Aggressive behavior, Attention...	OMIM:619580
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency	Unconjugated hyperbilirubinemia, Leukocytosis, Reticulocytosis, Splenomegaly, Anisocytosis, Heinz...	OMIM:300908
Lipodystrophy-Intellectual Disability-Deafness Syndrome	Progeroid facial appearance	ORPHA:50811
Rothmund-Thomson Syndrome, Type 1	Recurrent otitis media, Cafe-au-lait spot, Hyperkeratosis	OMIM:618625
Jung Syndrome	Dry skin	ORPHA:2321
Severe Hereditary Thrombophilia Due To Congenital Protein S Deficiency	Subcutaneous hemorrhage, Purpura, Skin ulcer, Thin skin	ORPHA:743
Mccune-Albright Syndrome	Bone marrow hypocellularity, Hepatitis, Increased circulating cortisol level, Cholestasis, Pancyt...	ORPHA:562
Peroxisome Biogenesis Disorder 14B	Dry skin	OMIM:614920
Subacute Cutaneous Lupus Erythematosus	Psoriasiform lesion, Hyperkeratosis, Cutaneous photosensitivity, Vasculitis in the skin	ORPHA:163525
Relapsing Fever	Elevated circulating hepatic transaminase concentration, Increased circulating lactate dehydrogen...	ORPHA:91547
Poikiloderma, Hereditary Fibrosing, With Tendon Contractures, Myopathy, And Pulmonary Fibrosis	Hepatomegaly, Pulmonary fibrosis, Erysipelas, Elevated circulating creatine kinase concentration	OMIM:615704
Osteopetrosis, Autosomal Recessive 7	Decreased circulating IgG level, Recurrent pneumonia, Decreased circulating IgA level, Splenomega...	OMIM:612301
Cholestasis, Progressive Familial Intrahepatic, 9	Malformation of the hepatic ductal plate, Intrahepatic cholestasis, Micronodular cirrhosis, Porta...	OMIM:619849
Inherited Creutzfeldt-Jakob Disease	Astrocytosis	ORPHA:282166
Short Qt Syndrome 2	Shortened QT interval, Syncope, Bradycardia, Atrial fibrillation, Ventricular fibrillation, Sudde...	OMIM:609621
Hemochromatosis, Type 1	Increased circulating iron concentration, Elevated circulating hepatic transaminase concentration...	OMIM:235200
Igg4-Related Submandibular Gland Disease	Abnormal pancreas morphology, Increased circulating IgE level, Increased circulating IgG4 level, ...	ORPHA:449432
Cirrhotic Cardiomyopathy	Congestive heart failure, Fourth heart sound, Ventricular arrhythmia, Elevated pulmonary artery p...	ORPHA:57777
Hermansky-Pudlak Syndrome 2	Periodontitis, Enlarged platelet dense granules, Recurrent otitis media, Hepatosplenomegaly, Decr...	OMIM:608233
Very Long Chain Acyl-Coa Dehydrogenase Deficiency	Pneumonia, Increased circulating free fatty acid level, Inflammatory abnormality of the skin, Ele...	ORPHA:26793
Acute Monoblastic/Monocytic Leukemia	Hypochromic anemia, Increased circulating lactate dehydrogenase concentration, Acute monocytic le...	ORPHA:514
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia	Decreased mean platelet volume, Inflammation of the large intestine, Recurrent pneumonia, Failure...	OMIM:617718
Farber Disease	Hepatic fibrosis, Hepatic failure, Elevated circulating hepatic transaminase concentration, Recur...	ORPHA:333
Glycosylphosphatidylinositol Biosynthesis Defect 1	Portal vein thrombosis, Hepatomegaly, Portal hypertension, Splenomegaly	OMIM:610293
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia	Atrophic gastritis, Cholelithiasis, Pigmentary retinopathy, Chronic mucocutaneous candidiasis, Vi...	OMIM:240300
Dysplastic Cortical Hyperostosis, Kozlowski-Tsuruta Type	Hepatomegaly, Splenomegaly, Aplasia/Hypoplasia of the lungs	ORPHA:2204
Budd-Chiari Syndrome	Elevated circulating hepatic transaminase concentration, Ascites, Acute hepatic failure, Portal h...	ORPHA:131
Pityriasis Rubra Pilaris	Thickened skin, Subungual hyperkeratosis, Irregular hyperpigmentation, Palmoplantar keratoderma, ...	ORPHA:2897
Aicardi-Goutieres Syndrome 1	Erythema, Petechiae, Self-mutilation, Purpura, Prolonged neonatal jaundice, Acrocyanosis	OMIM:225750
Hypertrophic Osteoarthropathy, Primary, Autosomal Recessive, 1	Erythema, Palmoplantar hyperkeratosis, Redundant skin, Flushing	OMIM:259100
Immunodeficiency 12	Decreased lymphocyte proliferation in response to anti-CD3, Recurrent aphthous stomatitis, Comple...	OMIM:615468
Gamma-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R5	Right ventricular hypertrophy, Abnormal macrophage morphology, Elevated circulating creatine kina...	ORPHA:353
Facioscapulohumeral Muscular Dystrophy 3, Digenic	Aspiration pneumonia	OMIM:619477
Glycogen Storage Disease Ixc	Elevated circulating hepatic transaminase concentration, Splenomegaly, Increased hepatic glycogen...	OMIM:613027
Kcnq2-Related Epileptic Encephalopathy	Cerebral edema, Facial erythema, Pallor	ORPHA:439218
Glycosylphosphatidylinositol Biosynthesis Defect 17	Dry skin	OMIM:618010
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2	Accessory spleen, Cholestatic liver disease, Failure to thrive, Polysplenia, Exocrine pancreatic ...	OMIM:619418
Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome	Hepatic failure, Elevated circulating hepatic transaminase concentration, Hepatitis, Decreased li...	ORPHA:415
Niemann-Pick Disease, Type C2	Fetal ascites, Sea-blue histiocytosis, Splenomegaly, Hepatomegaly, Low cholesterol esterification...	OMIM:607625
Pontocerebellar Hypoplasia, Hypotonia, And Respiratory Insufficiency Syndrome, Neonatal Lethal	Hepatomegaly, Hypocholesterolemia, Neonatal death	OMIM:618810
Tropical Endomyocardial Fibrosis	Abnormal atrioventricular valve physiology, Restrictive cardiomyopathy, P pulmonale, Mitral regur...	ORPHA:75565
Congenital Enterocyte Heparan Sulfate Deficiency	Dehydration, Edema	ORPHA:103910
Hurler-Scheie Syndrome	Hepatomegaly, Rhinitis, Abnormality of the tonsils, Splenomegaly	ORPHA:93476
Stuve-Wiedemann Syndrome 2	Neonatal death, Eczematoid dermatitis, Thrombocytopenia, Stillbirth	OMIM:619751
Gaucher Disease, Type I	Aortic valve stenosis, Epistaxis, Pancytopenia, Hypersplenism, Splenomegaly, Mitral regurgitation...	OMIM:230800
Potocki-Lupski Syndrome	Hypocholesterolemia, Small for gestational age, Failure to thrive	OMIM:610883
Cholestasis, Progressive Familial Intrahepatic, 6	Intrahepatic cholestasis, Periportal fibrosis, Elevated circulating hepatic transaminase concentr...	OMIM:619484
Ichthyotic Keratoderma, Spasticity, Hypomyelination, And Dysmorphic Facial Features	Dry skin, Ichthyosis, Parakeratosis, Acanthosis nigricans, Hyperkeratosis	OMIM:618527
Delta-Beta-Thalassemia	Anemia, Microcytic anemia, Abnormal hemoglobin	ORPHA:231237
Pulmonary Hypertension, Primary, 5	Angina pectoris, Pulmonary arterial hypertension, Syncope, Right ventricular failure	OMIM:265400
Congenital Syphilis	Pneumonia, Keratitis, Extramedullary hematopoiesis, Hepatosplenomegaly, Synovitis, Prolonged neon...	ORPHA:499009
Noonan Syndrome 5	Webbed neck, Dry skin	OMIM:611553
Idiopathic Pulmonary Hemosiderosis	Reticular pattern on pulmonary HRCT, Diffuse alveolar hemorrhage, Failure to thrive, Hepatospleno...	ORPHA:99931
Vexas Syndrome	Arteritis, Inflammatory abnormality of the skin, Neutrophilic infiltration of the skin, Macrocyti...	OMIM:301054
Whipple Disease	Uveitis, Generalized hyperpigmentation, Pleuritis, Splenomegaly, Infectious encephalitis, Myositi...	ORPHA:3452
Papa Syndrome	Crohn's disease, Increased inflammatory response, Myositis, Pustule, Increased circulating antibo...	ORPHA:69126
Aicardi-Goutieres Syndrome 9	Hypoalbuminemia, Hepatic fibrosis, Elevated circulating hepatic transaminase concentration, Failu...	OMIM:619487
Cholestasis, Benign Recurrent Intrahepatic, 1	Intermittent jaundice, Increased serum bile acid concentration, Pancreatitis, Intrahepatic choles...	OMIM:243300
Juvenile Arthritis	Leukocytosis, Skin rash, Thrombocytosis	OMIM:618795
Mitochondrial Complex Iv Deficiency, Nuclear Type 20	Hepatomegaly, Pulmonary arterial hypertension, Elevated circulating hepatic transaminase concentr...	OMIM:619064
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 8	Nodular regenerative hyperplasia of liver, Hepatic failure, Usual interstitial pneumonia, Increas...	OMIM:620367
Generalized Pseudohypoaldosteronism Type 1	Atopic dermatitis, Cholelithiasis, Recurrent tonsillitis, Failure to thrive in infancy, Osteomyel...	ORPHA:171876
Immunodeficiency 9	Decreased circulating IgG level, Failure to thrive, Lymphopenia, Recurrent aphthous stomatitis, D...	OMIM:612782
Ataxia-Telangiectasia	Decreased circulating IgG level, Defective B cell differentiation, Failure to thrive, Lymphopenia...	OMIM:208900
Acute Promyelocytic Leukemia	Diffuse alveolar hemorrhage, Pancytopenia, Leukopenia, Leukocytosis, Weight loss, Lymphadenopathy...	ORPHA:520
Gaisböck Syndrome	Increased red blood cell count, Increased mean corpuscular hemoglobin concentration, Increased he...	ORPHA:90041
Stormorken Syndrome	Howell-Jolly bodies, Increased circulating lactate dehydrogenase concentration, Ichthyosis, Eleva...	OMIM:185070
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency	Hepatic fibrosis, Elevated circulating hepatic transaminase concentration, Abnormal circulating e...	ORPHA:79240
Cancer, Alopecia, Pigment Dyscrasia, Onychodystrophy, And Keratoderma	Conjunctival telangiectasia, Dry skin, Scaling skin	OMIM:618373
Myelofibrosis	Hemophagocytosis, Extramedullary hematopoiesis, Splenomegaly, Hepatomegaly, Myeloproliferative di...	OMIM:254450
Kimura Disease	Increased circulating IgE level, Eosinophilia, Follicular hyperplasia, Lymphadenopathy	ORPHA:482
Shwachman-Diamond Syndrome 1	Elevated circulating hepatic transaminase concentration, Failure to thrive, Persistence of hemogl...	OMIM:260400
Atrial Septal Defect 9	Pulmonary arterial hypertension	OMIM:614475
Ichthyosis, Congenital, Autosomal Recessive 1	Congenital ichthyosiform erythroderma, Ichthyosis, Parakeratosis, Palmoplantar hyperkeratosis, Co...	OMIM:242300
Chromomycosis	Predominantly lower limb lymphedema, Hyperkeratotic papule, Vascular skin abnormality, Lymphedema...	ORPHA:182
Combined Oxidative Phosphorylation Deficiency 9	Elevated gamma-glutamyltransferase level, Failure to thrive, Elevated circulating aspartate amino...	OMIM:614582
Acrodermatitis Enteropathica	Erythema, Skin ulcer, Generalized abnormality of skin, Dry skin, Anorexia	ORPHA:37
Wolcott-Rallison Syndrome	Hypoalbuminemia, Elevated circulating hepatic transaminase concentration, Acute hepatic failure, ...	ORPHA:1667
Ectodermal Dysplasia-Sensorineural Deafness Syndrome	Hidrotic ectodermal dysplasia, Hyperkeratosis	ORPHA:1883
Cardiogenic Shock	Impaired myocardial contractility, Hypotension, Right ventricular failure, Abnormal left ventricu...	ORPHA:97292
Congenital Left Ventricular Aneurysm	Arrhythmia, Congestive heart failure, Abnormal ST segment, Abnormal T-wave	ORPHA:1055
Congenital Disorder Of Glycosylation, Type Ie	Elevated circulating hepatic transaminase concentration, Failure to thrive, Splenomegaly, Elevate...	OMIM:608799
Pulmonic Stenosis, Atrial Septal Defect, And Unique Electrocardiographic Abnormalities	Pulmonic stenosis, Abnormal EKG	OMIM:178650
Porphyria Cutanea Tarda, Type I	Hepatic fibrosis, Hyperpigmentation of the skin, Eczematoid dermatitis	OMIM:176090
Immunodeficiency 58	Allergic rhinitis, Molluscum contagiosum, Esophagitis, Chronic otitis media, Recurrent cutaneous ...	OMIM:618131
Tumor Necrosis Factor Receptor 1 Associated Periodic Syndrome	Uveitis, Erysipelas, Fasciitis, Leukocytosis, Skin rash, Splenomegaly, Orchitis, Myositis, Perito...	ORPHA:32960
Short Qt Syndrome 3	Tachycardia, Palpitations, Shortened QT interval	OMIM:609622
Neutrophilic Dermatosis, Acute Febrile	Pyoderma gangrenosum, Erythema	OMIM:608068
Immunodeficiency 59 And Hypoglycemia	Recurrent upper respiratory tract infections, Arteritis, Acne inversa, Herpes simplex encephaliti...	OMIM:233600
Letterer-Siwe Disease	Hepatosplenomegaly, Seborrheic dermatitis, Neutropenia, Thrombocytopenia, Anemia, Jaundice, Stoma...	OMIM:246400
American Trypanosomiasis	Skin rash, Splenomegaly, Infectious encephalitis, Hepatomegaly, Lymphadenopathy, Myocarditis	ORPHA:3386
Sarcoidosis	Abnormal lymph node morphology, Abnormal pleura morphology, Weight loss, Erythema nodosum, Hepato...	ORPHA:797
Microcephalic Primordial Dwarfism, Toriello Type	Decreased circulating total IgM, Decreased circulating IgG level, Recurrent respiratory infection...	ORPHA:2643
Mitochondrial Myopathy, Infantile, Transient	Decreased circulating carnitine concentration, Failure to thrive, Elevated circulating creatine k...	OMIM:500009
Isolated Right Ventricular Hypoplasia	Bidirectional shunt, Abnormal atrioventricular conduction, Right ventricular failure, Right-to-le...	ORPHA:439
Free Sialic Acid Storage Disease	Iris hypopigmentation, Ascites, Failure to thrive in infancy, Splenomegaly, Abnormality of skin p...	ORPHA:834
Hereditary Sensory And Autonomic Neuropathy Type 1	Poor wound healing, Hyperkeratosis, Skin ulcer, Penetrating foot ulcers	ORPHA:36386
Zika Virus Disease	Myelitis, Retinal pigment epithelial mottling, Pruritus, Skin rash, Infectious encephalitis, Arth...	ORPHA:448237
Formiminoglutamic Aciduria	Anemia, Abnormal circulating enzyme concentration or activity, Megaloblastic anemia, Abnormal cir...	ORPHA:51208
Bloom Syndrome	Decreased circulating IgG level, Recurrent upper respiratory tract infections, Hypopigmentation o...	OMIM:210900
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency	Failure to thrive, Leukopenia, Hyperglycinemia, Hyperammonemia, Hepatomegaly, Pancreatitis, Throm...	OMIM:251000
Hsd10 Disease, Infantile Type	Cyanosis, Loss of ambulation, Dysphagia, Restlessness, Paroxysmal bursts of laughter, Choreoathet...	ORPHA:391428
Rheumatic Fever	Erythema, Pallor, Anorexia	ORPHA:3099
Progressive Microcephaly-Seizures-Cortical Blindness-Developmental Delay Syndrome	Decreased body weight, Bronchiectasis, Decreased proportion of CD4-positive T cells	ORPHA:477814
Hydrops, Lactic Acidosis, And Sideroblastic Anemia	Hypoalbuminemia, Small for gestational age, Increased mean corpuscular volume, Extramedullary hem...	OMIM:617021
Cerebrooculofacioskeletal Syndrome 1	Dehydration	OMIM:214150
Cog5-Cdg	Oligohydramnios, Premature skin wrinkling	ORPHA:263487
Sepsis In Premature Infants	Increased circulating interleukin 6 concentration, Decreased liver function, Leukocytosis, Spleno...	ORPHA:90051
Intermediate Osteopetrosis	Anemia, Osteomyelitis, Hepatosplenomegaly, Elevated circulating alkaline phosphatase concentration	ORPHA:210110
Mirage Syndrome	Aspiration pneumonia, Lymphopenia, Leukopenia, Decreased body weight, Hyponatremia, Thrombocytope...	OMIM:617053
Cirrhosis, Familial	Biliary cirrhosis, Micronodular cirrhosis, Cirrhosis, Pulmonary arterial hypertension, Jaundice, ...	OMIM:215600
Hypermanganesemia With Dystonia 1	Elevated circulating hepatic transaminase concentration, Polycythemia, Decreased liver function, ...	OMIM:613280
Adiposis Dolorosa	Dry skin, Telangiectasia of the skin, Bruising susceptibility	ORPHA:36397
Focal Facial Dermal Dysplasia 3, Setleis Type	Aged leonine appearance	OMIM:227260
Neutropenia, Severe Congenital, 4, Autosomal Recessive	Recurrent upper respiratory tract infections, Failure to thrive, Lymphopenia, Hepatosplenomegaly,...	OMIM:612541
Myopathy With Extrapyramidal Signs	Elevated circulating hepatic transaminase concentration, Extremely elevated creatine kinase, Leuk...	OMIM:615673
Subcorneal Pustular Dermatosis	Erythema	ORPHA:48377
Familial Cold Autoinflammatory Syndrome 1	Leukocytosis, Skin rash, Arthritis, Elevated circulating C-reactive protein concentration, Conjun...	OMIM:120100
Sick Sinus Syndrome 2	Aortic regurgitation, Torsade de pointes, Paroxysmal atrial fibrillation, Sinus bradycardia, Sync...	OMIM:163800
Encephalopathy, Ethylmalonic	Acrocyanosis, Petechiae, Death in infancy, Ataxia	OMIM:602473
Hydroxykynureninuria	Dry skin	ORPHA:79155
Ectodermal Dysplasia 11A, Hypohidrotic/Hair/Tooth Type, Autosomal Dominant	Dry skin, Hypohidrotic ectodermal dysplasia	OMIM:614940
Supranuclear Palsy, Progressive, 2	Falls, Gait imbalance, Dysphagia, Akinesia	OMIM:609454
Gm1-Gangliosidosis, Type Ii	Failure to thrive, Sea-blue histiocytosis, Splenomegaly, Decreased beta-galactosidase activity, H...	OMIM:230600
Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency	Increased mean corpuscular volume, Increased circulating lactate dehydrogenase concentration, Pan...	OMIM:613839
Igg4-Related Ophthalmic Disease	Neoplasm of the lung, Keratitis, Increased circulating IgE level, Increased circulating IgG4 leve...	ORPHA:449563
Angiostrongyliasis	Hypereosinophilia, Increased circulating specific IgE antibody, Increased circulating IgA level, ...	ORPHA:74
Immunodeficiency 21	Reduced natural killer cell count, Aplastic anemia, Lymphopenia, Osteomyelitis, Anemia, Neutropen...	OMIM:614172
Nodular Non-Suppurative Panniculitis	Erythema, Edema	ORPHA:33577
Darier-White Disease	Subungual hyperkeratotic fragments, Acantholysis	OMIM:124200
Brugada Syndrome 4	Atrial fibrillation, Syncope, Shortened QT interval	OMIM:611876
Liver Failure, Infantile, Transient	Hypoalbuminemia, Decreased circulating IgG level, Elevated circulating hepatic transaminase conce...	OMIM:613070
Corneodermatoosseous Syndrome	Thickened skin, Palmoplantar keratoderma, Erythema	ORPHA:3194
Sweet Syndrome	Inflammation of the large intestine, Abnormal circulating interleukin concentration, Increased ci...	ORPHA:3243
Osteopetrosis, Autosomal Dominant 3	Anemia, Hepatomegaly, Splenomegaly	OMIM:618107
Complete Atrioventricular Septal Defect	Abnormal atrioventricular valve physiology, Atrioventricular block, Right ventricular failure, Ab...	ORPHA:1329
Laryngeal Neuroendocrine Tumor	Weight loss, Chronic noninfectious lymphadenopathy, Elevated circulating carcinoembryonic antigen...	ORPHA:100083
Systemic Lupus Erythematosus	Nephritis, Leukopenia, Malar rash, Pleuritis, Lupus nephritis, Arthritis, Thrombocytopenia, Hemol...	OMIM:152700
Ataxia-Telangiectasia	Telangiectasia of the skin, Mucosal telangiectasiae, Prematurely aged appearance, Premature grayi...	ORPHA:100
Bone Marrow Failure Syndrome 2	Anemia, Bone marrow hypocellularity, Leukopenia, Thrombocytopenia	OMIM:615715
Combined Oxidative Phosphorylation Deficiency 22	Pulmonary arterial hypertension, Congestive heart failure	OMIM:616045
Ciliary Dyskinesia, Primary, 25	Recurrent pneumonia, Polysplenia, Recurrent otitis media, Recurrent sinusitis, Chronic rhinitis, ...	OMIM:615482
Autoinflammation, Immune Dysregulation, And Eosinophilia	Atopic dermatitis, Failure to thrive, Hepatosplenomegaly, Hepatic cysts, Colonic eosinophilia, Eo...	OMIM:618999
Pearson Marrow-Pancreas Syndrome	Hepatic failure, Elevated circulating hepatic transaminase concentration, Failure to thrive, Exoc...	OMIM:557000
Dpagt1-Cdg	Head-banging, Inability to walk, Stereotypical body rocking, Akinesia, Aggressive behavior, Ataxi...	ORPHA:86309
Lipodystrophy, Congenital Generalized, Type 4	Recurrent pneumonia, Elevated circulating hepatic transaminase concentration, Failure to thrive, ...	OMIM:613327
Autoinflammation, Antibody Deficiency, And Immune Dysregulation	Erythema	OMIM:614878
Methylmalonic Aciduria, Cblb Type	Decreased methylmalonyl-CoA mutase activity, Failure to thrive, Elevated circulating propionylcar...	OMIM:251110
Spherocytosis, Type 5	Abnormal leukocyte count, Splenomegaly, Reticulocytosis, Abnormal platelet count, Spherocytosis, ...	OMIM:612690
Periodic Fever, Familial, Autosomal Dominant	Erysipelas, Hepatic amyloidosis, Cervical lymphadenopathy, Skin rash, Myositis, Oligoarthritis, H...	OMIM:142680
Plectin-Related Limb-Girdle Muscular Dystrophy R17	Right bundle branch block, Elevated circulating creatine kinase concentration	ORPHA:254361
Overhydrated Hereditary Stomatocytosis	Abnormal mean corpuscular volume, Stomatocytosis, Increased circulating lactate dehydrogenase con...	ORPHA:3203
Fountain Syndrome	Facial edema, Erythema, Cutis marmorata	ORPHA:3219
Primary Triglyceride Deposit Cardiomyovasculopathy	Inflammatory abnormality of the skin, Abnormal circulating enzyme concentration or activity, Hype...	ORPHA:565612
Al Amyloidosis	Hypoalbuminemia, Howell-Jolly bodies, Abnormality of the liver, Elevated circulating alkaline pho...	ORPHA:85443
Palmoplantar Carcinoma, Multiple Self-Healing	Parakeratosis, Ectodermal dysplasia, Palmoplantar keratoderma, Follicular hyperkeratosis	OMIM:615225
Intellectual Developmental Disorder, X-Linked, Syndromic, Nascimento Type	Dry skin	OMIM:300860
Neuralgic Amyotrophy	Acrocyanosis	ORPHA:2901
Bronchial Neuroendocrine Tumor	Pneumonia, Hepatic failure, Increased circulating cortisol level, Chronic noninfectious lymphaden...	ORPHA:97287
Amelo-Onycho-Hypohidrotic Syndrome	Dry skin	ORPHA:1028
Focal Segmental Glomerulosclerosis 1	Hypoalbuminemia, Ascites, Hyperlipidemia, Pleural effusion, Anemia	OMIM:603278
Osteopetrosis, Autosomal Recessive 4	Splenomegaly, Reticulocytosis, Hepatomegaly, Thrombocytopenia, Anemia	OMIM:611490
Biliary Atresia, Extrahepatic	Portal fibrosis, Elevated circulating hepatic transaminase concentration, Atretic gallbladder, Ci...	OMIM:210500
Tako-Tsubo Cardiomyopathy	Abnormal circulating B-type natriuretic peptide concentration, Mitral regurgitation, Arrhythmia, ...	ORPHA:66529
Thrombocytopenia With Elevated Serum Iga And Renal Disease	Increased circulating IgA level, Glomerulonephritis, Thrombocytopenia	OMIM:314000
Severe Hereditary Thrombophilia Due To Congenital Protein C Deficiency	Pulmonary embolism	ORPHA:745
Lysosomal Acid Lipase Deficiency	Hepatosplenomegaly, Hypersplenism, Xanthelasma, Elevated circulating alkaline phosphatase concent...	ORPHA:275761
Respiratory Infections, Recurrent, And Failure To Thrive With Or Without Diarrhea	Failure to thrive, Atelectasis, Hilar lymph node enlargement, Recurrent otitis media, Cholestasis...	OMIM:620233
Hypercalcemia, Infantile, 1	Dehydration	OMIM:143880
Hyperlipoproteinemia, Type Id	Failure to thrive, Increased circulating chylomicron concentration, Splenomegaly, Hypertriglyceri...	OMIM:615947
Knuckle Pads-Leukonychia-Sensorineural Deafness-Palmoplantar Hyperkeratosis Syndrome	Hyperkeratotic papule, Palmoplantar hyperkeratosis, Palmoplantar keratoderma	ORPHA:2698
Retinitis Pigmentosa, Deafness, Impaired Intellectual Development, And Hypogonadism	Dry skin	OMIM:268020
Distal Duplication 6P	Dry skin	ORPHA:1745
Chronic Beryllium Disease	Reticulonodular pattern on pulmonary HRCT, Lymphocytic interstitial pneumonia, Weight loss, Abnor...	ORPHA:133
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency	Hypoalbuminemia, Hepatic failure, Elevated circulating hepatic transaminase concentration, Failur...	ORPHA:367
Dystrophic Epidermolysis Bullosa Pruriginosa	Increased circulating IgE level, Pruritus, Hyperkeratosis	ORPHA:89843
Immunodeficiency 67	Abnormal T cell count, Increased circulating IgE level, Transient neutropenia, Abnormal B cell co...	OMIM:607676
Apolipoprotein C-Ii Deficiency	Increased circulating chylomicron concentration, Splenomegaly, Pancreatitis, Hypercholesterolemia...	OMIM:207750
Stormorken-Sjaastad-Langslet Syndrome	Anemia, Asplenia, Ichthyosis	ORPHA:3204
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 2	Hepatosplenomegaly, Congenital thrombocytopenia, Neutropenia, Thrombocytopenia, Anemia	OMIM:616738
Hereditary Acrokeratotic Poikiloderma	Erythema, Thin skin, Xerostomia, Skin ulcer, Ichthyosis, Telangiectasia of the skin, Palmoplantar...	ORPHA:2907
Bloom Syndrome	Abscess, Abnormal proportion of CD8-positive T cells, Acute myeloid leukemia, Acute lymphoblastic...	ORPHA:125
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs	Prolonged neonatal jaundice, Dry skin	ORPHA:226313
Fixed Subaortic Stenosis	Aortic regurgitation, Congestive heart failure, Paroxysmal atrial fibrillation, Palpitations, Mit...	ORPHA:3092
Agammaglobulinemia 9, Autosomal Recessive	Eczematoid dermatitis, Failure to thrive, Agammaglobulinemia, Seborrheic dermatitis, Absent circu...	OMIM:619693
Renal Tubular Acidosis, Distal, 3, With Or Without Sensorineural Hearing Loss	Dehydration	OMIM:602722
Flynn-Aird Syndrome	Hyperkeratosis	OMIM:136300
Adult Idiopathic Neutropenia	Lymphopenia, Recurrent aphthous stomatitis, Neutropenia, Monocytosis, Monocytopenia, Increased ci...	ORPHA:2688
Sodium-Dependent Multivitamin Transporter Deficiency	Decreased circulating IgG level	OMIM:618973
Pemphigus Erythematosus	Acantholysis	ORPHA:79480
Lead Poisoning	Abnormality of humoral immunity, Imbalanced hemoglobin synthesis, Decreased HDL cholesterol conce...	ORPHA:330015
Familial Mediterranean Fever	Erysipelas, Leukocytosis, Splenomegaly, Pleural effusion, Crohn's disease, Orchitis, Peritonitis,...	OMIM:249100
Cystinosis	Polydipsia, Motor stereotypy, Dehydration	ORPHA:213
Squalene Synthase Deficiency	Failure to thrive in infancy, Hypocholesterolemia, Abnormality of hair pigmentation, Decreased LD...	OMIM:618156
Mitochondrial Complex I Deficiency, Nuclear Type 33	Bronchiectasis, Aspiration pneumonia, Hyperammonemia, Neutropenia, Small for gestational age	OMIM:618253
Pachyonychia Congenita 1	Follicular hyperkeratosis, Palmoplantar hyperkeratosis	OMIM:167200
Stuve-Wiedemann Syndrome 1	Oligohydramnios, Dysphagia, Thin skin, Premature skin wrinkling	OMIM:601559
Dyskeratosis Congenita, Autosomal Dominant 1	Bone marrow hypocellularity, Aplastic anemia, Increased mean corpuscular volume, Premature grayin...	OMIM:127550
Infantile Liver Failure Syndrome 3	Hepatic bridging fibrosis, Elevated circulating hepatic transaminase concentration, Cholestasis, ...	OMIM:618641
Macrocephaly, Neurodevelopmental Delay, Lymphoid Hyperplasia, And Persistent Fetal Hemoglobin	Recurrent pneumonia, Recurrent upper respiratory tract infections, Persistence of hemoglobin F, O...	OMIM:619769
Immunodeficiency 17	Abnormal B cell morphology, Eczematoid dermatitis, Failure to thrive, Recurrent otitis media, Dec...	OMIM:615607
Noonan Syndrome 13	Webbed neck, Bruising susceptibility, Dry skin	OMIM:619087
Catastrophic Antiphospholipid Syndrome	Pulmonary embolism, Arterial occlusion, Microangiopathic hemolytic anemia, Transient ischemic att...	ORPHA:464343
Acquired Purpura Fulminans	Elevated circulating C-reactive protein concentration, Hepatic failure, Skin rash, Thrombocytopenia	ORPHA:49566
Rh Deficiency Syndrome	Stomatocytosis, Increased circulating lactate dehydrogenase concentration, Hepatosplenomegaly, Hy...	ORPHA:71275
Hatipoglu Immunodeficiency Syndrome	Dry skin, Poor wound healing, Petechiae, Premature graying of hair	OMIM:620331
Dowling-Degos Disease	Hyperkeratotic papule, Hyperkeratosis, Skin vesicle, Generalized abnormality of skin	ORPHA:79145
Amed Syndrome, Digenic	Bone marrow hypocellularity, Failure to thrive, Leukopenia, Acute myeloid leukemia, Hyperpigmenta...	OMIM:619151
Familial Benign Copper Deficiency	Anemia, Decreased circulating copper concentration, Acne	ORPHA:1551
Arrhythmogenic Right Ventricular Dysplasia, Familial, 9	Right ventricular cardiomyopathy, Palpitations, Prolonged QRS complex, Premature ventricular cont...	OMIM:609040
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2	Bone marrow hypocellularity, Increased mean corpuscular volume, Pancytopenia, Acute myeloid leuke...	OMIM:619041
Isovaleric Acidemia	Dehydration	OMIM:243500
Neutral Lipid Storage Disease With Myopathy	Elevated circulating hepatic transaminase concentration, Chronic pancreatitis, Hepatic steatosis,...	OMIM:610717
Immunodeficiency 116	Recurrent respiratory infections, Bronchiectasis, Absence of CD8-positive T cells	OMIM:608957
Xerosis And Growth Failure With Immune And Pulmonary Dysfunction Syndrome	Erythema, Congenital nonbullous ichthyosiform erythroderma, Cerebral edema, Dry skin	OMIM:620510
Immunodeficiency 100 With Pulmonary Alveolar Proteinosis And Hypogammaglobulinemia	Intraalveolar phospholipid accumulation, Leukocytosis, Splenomegaly, Recurrent respiratory infect...	OMIM:618042
Listeriosis	Arteritis, Abscess, Pustule, Jaundice, Endocarditis, Unusual skin infection, Osteomyelitis, Perit...	ORPHA:533
Hennekam-Beemer Syndrome	Thickened skin, Erythema, Skin vesicle, Telangiectasia of the skin, Urticaria	ORPHA:2135
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 2	Right bundle branch block, Elevated circulating creatine kinase concentration	OMIM:616479
Symptomatic Form Of Hfe-Related Hemochromatosis	Increased circulating ferritin concentration, Portal hypertension, Splenomegaly, Cardiomegaly, Ch...	ORPHA:465508
Lethal Acantholytic Erosive Disorder	Acantholysis, Fragile skin	ORPHA:158687
Hereditary Motor And Sensory Neuropathy, Okinawa Type	Elevated circulating creatine kinase concentration, Aspiration pneumonia	ORPHA:90117
Macrocephaly/Autism Syndrome	Recurrent otitis media, Lymphopenia, Obesity, Large for gestational age, Splenomegaly, Hepatomega...	OMIM:605309
Mitochondrial Complex Iv Deficiency, Nuclear Type 19	Hypokinesia	OMIM:619063
Pachydermoperiostosis	Thickened skin, Palmoplantar keratoderma, Eczematoid dermatitis, Osteomyelitis, Splenomegaly, Hep...	ORPHA:2796
Neuroblastoma	Increased circulating lactate dehydrogenase concentration, Increased circulating ferritin concent...	ORPHA:635
Hermansky-Pudlak Syndrome 9	Hypopigmentation of the skin, Ocular albinism, Leukopenia, Abnormal platelet aggregation, Thrombo...	OMIM:614171
Anemia, Hypochromic Microcytic, With Iron Overload 1	Increased circulating iron concentration, Erythroid hyperplasia, Elevated hepatic iron concentrat...	OMIM:206100
Autosomal Dominant Palmoplantar Keratoderma And Congenital Alopecia	Poor wound healing, Palmoplantar keratoderma, Dry skin, Facial erythema, Scaling skin, Sclerodactyly	ORPHA:1010
Pulmonary Arteriovenous Malformation	Epistaxis, Pulmonary hemorrhage, Palpitations, Hemothorax, Transient ischemic attack, Ischemic st...	ORPHA:2038
Scrub Typhus	Skin rash, Splenomegaly, Infectious encephalitis, Lymphadenopathy, Myocarditis, Anterior uveitis	ORPHA:83317
Neuropathy, Hereditary Sensory, Type If	Osteomyelitis, Hyperkeratosis	OMIM:615632
Thanatophoric Dysplasia Type 1	Increased nuchal translucency, Redundant skin, Excessive wrinkled skin, Acanthosis nigricans, Pol...	ORPHA:1860
Neurodevelopmental Disorder With Hypotonia, Dysmorphic Facies, And Skin Abnormalities	Dry skin	OMIM:620191
Pseudomyxoma Peritonei	Inflammation of the large intestine, Ascites, Weight loss, Lymphadenopathy, Abnormal peritoneum m...	ORPHA:26790
Benign Recurrent Intrahepatic Cholestasis	Cholestatic liver disease, Cholelithiasis, Elevated circulating hepatic transaminase concentratio...	ORPHA:65682
Xfe Progeroid Syndrome	Death in adolescence, Prematurely aged appearance, Cutaneous photosensitivity, Dry skin	OMIM:610965
Pelger-Huet Anomaly	Giant platelets, Eczematoid dermatitis, Failure to thrive, Recurrent otitis media, Hyposegmentati...	OMIM:169400
Typhoid	Splenomegaly, Skin rash, Infectious encephalitis, Hepatomegaly, Abnormal pulmonary interstitial m...	ORPHA:99745
Congenital Disorder Of Glycosylation, Type Iu	Hypokinesia, Death in infancy	OMIM:615042
Acute Lung Injury	Pneumonia, Diffuse alveolar hemorrhage, Increased circulating interleukin 6 concentration, Abnorm...	ORPHA:178320
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities	Dry skin	OMIM:262190
Atrial Septal Defect, Coronary Sinus Type	Right ventricular failure, Bundle branch block, Transient ischemic attack, Palpitations, Left-to-...	ORPHA:99104
Nicolaides-Baraitser Syndrome	Excessive wrinkled skin	ORPHA:3051
Spherocytosis, Type 4	Hyperbilirubinemia, Splenomegaly, Reticulocytosis, Spherocytosis, Jaundice, Hemolytic anemia	OMIM:612653
Lipodystrophy, Familial Partial, Type 7	Progeroid facial appearance, Facial wrinkling, Dry skin, Cutis marmorata, Decreased adipose tissu...	OMIM:606721
Deafness, Autosomal Dominant 34, With Or Without Inflammation	Conjunctivitis, Lymphadenopathy, Arthritis	OMIM:617772
Idiopathic Non-Lupus Full-House Nephropathy	Elevated circulating creatinine concentration, Reduced circulating complement concentration, Skin...	ORPHA:567544
Cutis Laxa, Autosomal Recessive, Type Iiib	Excessive wrinkled skin, Cutis laxa, Prominent superficial veins, Dermal translucency, Thin skin	OMIM:614438
Klippel-Trénaunay Syndrome	Gastrointestinal hemorrhage, Pulmonary embolism, Congestive heart failure, Microcytic anemia, Int...	ORPHA:90308
Low Phospholipid-Associated Cholelithiasis	Intrahepatic cholestasis, Cholelithiasis, Biliary cirrhosis, Elevated circulating hepatic transam...	ORPHA:69663
Juvenile Dermatomyositis	Erythema, Skin ulcer, Dry skin, Telangiectasia of the skin, Dysphagia, Cutaneous photosensitivity...	ORPHA:93672
Tubulointerstitial Nephritis And Uveitis Syndrome	Posterior uveitis, Normocytic anemia, Nongranulomatous uveitis, Panuveitis, Elevated circulating ...	ORPHA:91500
Rheumatoid Factor-Negative Polyarticular Juvenile Idiopathic Arthritis	Hip osteoarthritis, Hepatosplenomegaly, Knee osteoarthritis, Synovitis, Oligoarthritis, Iridocycl...	ORPHA:85408
19Q13.11 Microdeletion Syndrome	Dry skin, Thin skin	ORPHA:217346
Intellectual Developmental Disorder, Autosomal Dominant 56	Broad-based gait, Hypokinesia, Inability to walk, Attention deficit hyperactivity disorder, Ataxi...	OMIM:617854
Sarcoidosis, Susceptibility To, 1	Inflammation of the large intestine, Abnormal pulmonary interstitial morphology, Emphysema, Pancy...	OMIM:181000
Cutis Laxa, Autosomal Recessive, Type Iib	Bruising susceptibility, Redundant skin, Excessive wrinkled skin, Lack of skin elasticity, Promin...	OMIM:612940
Supranuclear Palsy, Progressive, 1	Falls, Gait imbalance, Dysphagia, Akinesia	OMIM:601104
Lujo Hemorrhagic Fever	Elevated circulating hepatic transaminase concentration, Increased circulating lactate dehydrogen...	ORPHA:319213
Lig4 Syndrome	Erythema, Telangiectasia of the skin, Cutaneous photosensitivity	ORPHA:99812
Combined Oxidative Phosphorylation Deficiency 1	Hypokinesia	OMIM:609060
Celiac Disease, Susceptibility To, 1	Elevated circulating hepatic transaminase concentration, Eczematoid dermatitis, Failure to thrive...	OMIM:212750
Vici Syndrome	Albinism, Cutaneous anergy, Hypopigmentation of the skin, Decreased circulating IgG level, Chroni...	OMIM:242840
Lipodystrophy, Familial Partial, Type 1	Hepatomegaly, Acanthosis nigricans, Acute pancreatitis, Hypertriglyceridemia	OMIM:608600
Cronkhite-Canada Syndrome	Generalized hyperpigmentation, Splenomegaly, Hepatomegaly, Cachexia, Abnormality of skin pigmenta...	ORPHA:2930
Spherocytosis, Type 2	Hyperbilirubinemia, Acanthocytosis, Splenomegaly, Reticulocytosis, Spherocytosis, Jaundice, Hemol...	OMIM:616649
Chiari Malformation Type Ii	Dysphagia, Cyanosis, Ataxia	OMIM:207950
Erythrocytosis, Familial, 4	Increased circulating hemoglobin concentration, Increased hematocrit, Pruritus, Polycythemia	OMIM:611783
Neutropenia, Severe Congenital, X-Linked	Monocytopenia, Decreased CD4:CD8 ratio, Eczematoid dermatitis, Neutropenia	OMIM:300299
Tangier Disease	Dry skin	OMIM:205400
Gaucher Disease, Type Ii	Bronchiolitis, Failure to thrive, Splenomegaly, Hepatomegaly, Thrombocytopenia, Anemia, Recurrent...	OMIM:230900
Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2	Decreased proportion of memory B cells, Inflammation of the large intestine, Reduced natural kill...	OMIM:301074
Benign Familial Infantile Epilepsy	Cyanosis	ORPHA:306
Methylmalonyl-Coa Epimerase Deficiency	Dehydration	OMIM:251120
Bone Dysplasia, Lethal Holmgren Type	Failure to thrive, Hepatomegaly, Weight loss, Anemia, Recurrent respiratory infections, Patent du...	ORPHA:1842
Fanconi Anemia, Complementation Group F	Pneumonia, Bone marrow hypocellularity, Failure to thrive, Leukopenia, Hyperpigmentation of the s...	OMIM:603467
Carnitine Palmitoyltransferase Ii Deficiency, Infantile	Elevated circulating hepatic transaminase concentration, Increased circulating lactate dehydrogen...	OMIM:600649
Spherocytosis, Type 1	Cholelithiasis, Hyperbilirubinemia, Splenomegaly, Reticulocytosis, Spherocytosis, Jaundice, Hemol...	OMIM:182900
Biotinidase Deficiency	Skin rash, Splenomegaly, Hyperammonemia, Seborrheic dermatitis, Decreased circulating biotinidase...	OMIM:253260
Carnitine Deficiency, Systemic Primary	Dehydration	OMIM:212140
Acquired Partial Lipodystrophy	Progeroid facial appearance	ORPHA:79087
Infantile Osteopetrosis With Neuroaxonal Dysplasia	Pneumonia	ORPHA:85179
Adult Syndrome	Dry skin, Ectodermal dysplasia, Cutaneous photosensitivity, Thin skin	OMIM:103285
Peripheral Primitive Neuroectodermal Tumor	Increased circulating lactate dehydrogenase concentration, Pelvic mass, Ascites, Elevated carcino...	ORPHA:370348
Xeroderma Pigmentosum	Erythema, Dry skin, Telangiectasia, Conjunctival telangiectasia, Telangiectasia of the skin, Hype...	ORPHA:910
Dubowitz Syndrome	Decreased circulating IgG level, Aplastic anemia, Eczematoid dermatitis, Hypocholesterolemia, Dec...	OMIM:223370
Wiskott-Aldrich Syndrome	Inflammation of the large intestine, Recurrent otitis media, Lymphopenia, Decreased proportion of...	OMIM:301000
Immunodeficiency 55	Absent natural killer cells, Eczematoid dermatitis, Lymphopenia, Ichthyosis, Lymphadenopathy, Neu...	OMIM:617827
Pyruvate Dehydrogenase E3 Deficiency	Elevated circulating branched chain amino acid concentration, Hepatic failure, Elevated circulati...	ORPHA:2394
Xeroderma Pigmentosum-Cockayne Syndrome Complex	Dry skin, Prematurely aged appearance, Cutaneous photosensitivity, Urticaria	ORPHA:220295
Medium Chain Acyl-Coa Dehydrogenase Deficiency	Elevated circulating hepatic transaminase concentration, Decreased liver function, Abnormal circu...	ORPHA:42
Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type)	Hypoalbuminemia, Depletion of mitochondrial DNA in liver, Increased total bilirubin, Cholestasis,...	OMIM:618528
Alternating Hemiplegia Of Childhood	Oral-pharyngeal dysphagia, Flushing, Pallor, Impulsivity, Aggressive behavior, Anorexia, Dysphagi...	ORPHA:2131
Sickle Cell Disease	Splenic infarction, Cholelithiasis, Increased red cell sickling tendency, Leukocytosis, Splenomeg...	OMIM:603903
Pseudohypoaldosteronism, Type Ib2, Autosomal Recessive	Hyponatremia, Hypotension, Hyperkalemia, Increased circulating renin level	OMIM:620125
Waldenström Macroglobulinemia	Normocytic anemia, Monoclonal immunoglobulin M proteinemia, Pleural effusion, Splenomegaly, Hepat...	ORPHA:33226
Familial Partial Lipodystrophy, Köbberling Type	Hepatomegaly, Acanthosis nigricans, Pancreatitis, Hepatic steatosis	ORPHA:79084
Lmna-Related Cardiocutaneous Progeria Syndrome	Premature graying of hair, Premature skin wrinkling, Scleroderma	ORPHA:363618
Hemochromatosis, Type 5	Abnormal circulating copper concentration, Increased circulating iron concentration, Abnormal cir...	OMIM:615517
Holocarboxylase Synthetase Deficiency	Perioral eczema, Eczematoid dermatitis, Hyperammonemia, Keratoconjunctivitis, Weight loss, Thromb...	ORPHA:79242
Rigid Spine Syndrome	Pneumonia	ORPHA:97244
Pseudo-Torch Syndrome 1	Elevated circulating hepatic transaminase concentration, Failure to thrive, Decreased liver funct...	OMIM:251290
Copper Deficiency, Familial Benign	Anemia, Seborrheic dermatitis, Decreased circulating copper concentration, Failure to thrive	OMIM:121270
Porphyria, Congenital Erythropoietic	Thickened skin, Cholelithiasis, Hypopigmentation of the skin, Elevated circulating uroporphyrin c...	OMIM:263700
Seborrhea-Like Dermatitis With Psoriasiform Elements	Hyperkeratosis	OMIM:610227
Lymphoid Interstitial Pneumonia	Rheumatoid arthritis, Eczematoid dermatitis, Failure to thrive, Subpleural interstitial thickenin...	ORPHA:79128
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders	Hypoalbuminemia, Bone marrow hypocellularity, Decreased circulating IgG level, Thickened skin, He...	ORPHA:505248
Methylmalonic Acidemia With Homocystinuria Type Cblf	Elevated circulating palmitoleylcarnitine concentration, Failure to thrive, Skin rash, Reduced nu...	ORPHA:79284
Ectodermal Dysplasia 11B, Hypohidrotic/Hair/Tooth Type, Autosomal Recessive	Dry skin, Ectodermal dysplasia, Periorbital wrinkles	OMIM:614941
Huntington Disease-Like 1	Hypokinesia, Gait ataxia, Dysmetria, Gait disturbance, Restlessness	ORPHA:157941
Adult Syndrome	Dry skin, Skin ulcer, Thin skin	ORPHA:978
Lesch-Nyhan Syndrome	Anemia, Gout, Hyperuricemia	ORPHA:510
Stomatin-Deficient Cryohydrocytosis With Neurologic Defects	Elevated gamma-glutamyltransferase level, Stomatocytosis, Splenomegaly, Conjugated hyperbilirubin...	OMIM:608885
Familial Partial Lipodystrophy, Dunnigan Type	Abnormality of complement system, Hepatic steatosis, Splenomegaly, Acanthosis nigricans, Pancreat...	ORPHA:2348
Myotonic Dystrophy 2	Palpitations, Elevated circulating creatine kinase concentration, Premature ventricular contracti...	OMIM:602668
Tubulointerstitial Kidney Disease, Autosomal Dominant, 5	Elevated circulating creatinine concentration, Gout, Hyperuricemia, Neutropenia, Anemia	OMIM:617056
Congenital Dyserythropoietic Anemia Type Iii	Increased circulating iron concentration, Elevated circulating hepatic transaminase concentration...	ORPHA:98870
Riddle Syndrome	Pneumonia, Decreased circulating IgG level, Recurrent pneumonia, Bronchitis, Decreased circulatin...	ORPHA:420741
Pseudohypoaldosteronism, Type Ib3, Autosomal Recessive	Dehydration	OMIM:620126
Ebstein Malformation Of The Tricuspid Valve	Congestive heart failure, Cerebral ischemia, Arrhythmia, Atrial fibrillation, Sudden cardiac deat...	ORPHA:1880
Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects	Erythema, Orthokeratosis, Congenital ichthyosiform erythroderma, Parakeratosis, Stillbirth, Hyper...	OMIM:308050
Neurodevelopmental Disorder With Epilepsy And Hemochromatosis	Hepatic failure, Micronodular cirrhosis, Aspiration pneumonia, Ascites, Splenomegaly, Ichthyosis,...	OMIM:301072
Progressive Encephalopathy With Leukodystrophy Due To Decr Deficiency	Decreased circulating carnitine concentration, Failure to thrive, Abnormal circulating carnitine ...	ORPHA:431361
Singleton-Merten Syndrome 2	Psoriasiform lesion, Hyperkeratosis	OMIM:616298
Obesity-Hypoventilation Syndrome	Cyanosis	OMIM:257500
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 2	Erythema, Aggressive behavior, Death in childhood	OMIM:618321
Diamond-Blackfan Anemia 14 With Mandibulofacial Dysostosis	Elevated red cell adenosine deaminase activity, Increased mean corpuscular volume, Macrocytic ane...	OMIM:300946
Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome	Difficulty walking, Gait imbalance, Cyanosis, Aggressive behavior, Gait disturbance, Dysphagia	ORPHA:488627
Agammaglobulinemia 1, Autosomal Recessive	Recurrent pneumonia, Failure to thrive, Rectal abscess, Panhypogammaglobulinemia, Recurrent otiti...	OMIM:601495
Lipoid Proteinosis	Thickened skin, Pustule, Hyperkeratosis, Recurrent respiratory infections, Acne	ORPHA:530
Marburg Hemorrhagic Fever	Neutrophilia in presence of infection, Lymphopenia, Increased circulating antibody level, Jaundic...	ORPHA:99826
Citrullinemia Type Ii	Hypoalbuminemia, Hepatic fibrosis, Elevated circulating hepatic transaminase concentration, Decre...	ORPHA:247585
Acrodermatitis Enteropathica, Zinc-Deficiency Type	Perianal erythema, Dry skin, Perioral erythema	OMIM:201100
Microscopic Polyangiitis	Subcutaneous hemorrhage, Erythema, Cutis marmorata, Skin ulcer	ORPHA:727
Glycogen Storage Disease Ib	Inflammation of the large intestine, Elevated circulating hepatic transaminase concentration, Red...	OMIM:232220
Methylmalonic Aciduria, Cbla Type	Decreased methylmalonyl-CoA mutase activity, Failure to thrive, Pancytopenia, Hyperglycinemia, Hy...	OMIM:251100
Osteopetrosis, Autosomal Recessive 2	Mandibular osteomyelitis, Extramedullary hematopoiesis, Osteomyelitis, Hepatosplenomegaly, Pancyt...	OMIM:259710
Nicolaides-Baraitser Syndrome	Periorbital wrinkles, Premature skin wrinkling, Ichthyosis, Excessive wrinkled skin, Aggressive b...	OMIM:601358
Congenital Disorder Of Glycosylation, Type Im	Dry skin, Death in infancy	OMIM:610768
Combined Oxidative Phosphorylation Deficiency 40	Decreased liver function, Elevated circulating creatine kinase concentration, Neonatal death, Dec...	OMIM:618835
Amegakaryocytic Thrombocytopenia, Congenital, 2	Bone marrow hypocellularity, Aplastic anemia, Pancytopenia, Thrombocytopenia, Neutropenia, Anemia...	OMIM:620481
Mpi-Cdg	Hypoalbuminemia, Hepatic fibrosis, Failure to thrive, Decreased liver function, Abnormal circulat...	ORPHA:79319
Alpha-N-Acetylgalactosaminidase Deficiency Type 2	Lymphedema, Telangiectasia of the skin, Telangiectasia of the oral mucosa, Angiokeratoma corporis...	ORPHA:79280
Combined Oxidative Phosphorylation Deficiency 42	Decreased liver function, Elevated circulating creatine kinase concentration, Neonatal death, Dec...	OMIM:618839
Aregenerative Anemia	Bone marrow hypocellularity, Abnormal circulating interleukin concentration, Pancytopenia, Decrea...	ORPHA:101096
Fg Syndrome Type 1	Compulsive behaviors, Attention deficit hyperactivity disorder, Facial wrinkling	ORPHA:93932
Alpha-Mannosidosis, Adult Form	Pneumonia, Hepatosplenomegaly, Pancytopenia	ORPHA:309288
Tricuspid Atresia	Cyanosis	ORPHA:1209
Liver Disease, Severe Congenital	Portal inflammation, Recurrent otitis media, Hyperbilirubinemia, Hepatic steatosis, Pulmonary ede...	OMIM:619991
Trichothiodystrophy 3, Photosensitive	Failure to thrive, Congenital ichthyosiform erythroderma, Lymphopenia, Ichthyosis, Abdominal adhe...	OMIM:616395
Ciliary Dyskinesia, Primary, 9	Pneumonia, Recurrent otitis media, Recurrent sinusitis, Chronic rhinitis, Chronic sinusitis, Chro...	OMIM:612444
Secondary Short Bowel Syndrome	Polyphagia, Dehydration	ORPHA:95427
Congenital Short Bowel Syndrome	Dehydration	OMIM:615237
Igg4-Related Dacryoadenitis And Sialadenitis	Increased circulating IgG4 level, Myositis, Keratoconjunctivitis sicca, Increased circulating IgA...	ORPHA:79078
Thrombocytopenia With Beta-Thalassemia, X-Linked	Increased RBC distribution width, Reduced platelet alpha granules, Reticulocytosis, Splenomegaly,...	OMIM:314050
Erythrokeratodermia Variabilis Et Progressiva 6	Parakeratosis, Pruritus, Superficial dermal perivascular inflammatory infiltrate	OMIM:618531
Autosomal Recessive Dopa-Responsive Dystonia	Gait ataxia, Hypokinesia, Ataxia	ORPHA:101150
Infantile Liver Failure Syndrome 2	Acute hepatic failure, Jaundice, Elevated circulating hepatic transaminase concentration, Cardiom...	OMIM:616483
Primary Familial Polycythemia	Pruritus, Polycythemia, Abnormal hemoglobin	ORPHA:90042
Sialidosis Type 1	Hyperkeratosis, Splenomegaly	ORPHA:812
Dravet Syndrome	Progressive gait ataxia, Cyanotic episode, Obsessive-compulsive trait, Impulsivity	ORPHA:33069
Histiocytosis-Lymphadenopathy Plus Syndrome	Pancreatic hypoplasia, Cervical lymphadenopathy, Hepatosplenomegaly, Episcleritis, Splenomegaly, ...	OMIM:602782
Hereditary Elliptocytosis	Cholelithiasis, Stomatocytosis, Neonatal hyperbilirubinemia, Abnormal erythrocyte morphology, Con...	ORPHA:288
Syndromic Recessive X-Linked Ichthyosis	Acute leukemia, Hyperkeratosis, Ichthyosis	ORPHA:281090
Hidrotic Ectodermal Dysplasia	Hyperkeratotic papule, Thickened skin, Palmoplantar keratoderma, Cobblestone-like hyperkeratosis,...	ORPHA:189
Radio-Tartaglia Syndrome	Dry skin, Striae distensae	OMIM:619312
Mogs-Cdg	Decreased circulating IgG level, Fair hair, Hepatosplenomegaly, Decreased circulating IgA level, ...	ORPHA:79330
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase	Cyanosis, Methemoglobinemia, Polycythemia	OMIM:250800
Resistance To Thyrotropin-Releasing Hormone Syndrome	Prolonged neonatal jaundice, Dry skin	ORPHA:99832
3-Hydroxy-3-Methylglutaric Aciduria	Edema, Pallor, Anorexia, Jaundice, Dehydration	ORPHA:20
Ciliary Dyskinesia, Primary, 14	Recurrent pneumonia, Polysplenia, Otitis media, Chronic sinusitis, Chronic bronchitis, Recurrent ...	OMIM:613807
Pseudohypoaldosteronism, Type Ib1, Autosomal Recessive	Dehydration	OMIM:264350
Neuraminidase Deficiency	Ascites, Splenomegaly, Cardiomegaly, Hepatomegaly, Vacuolated lymphocytes, Bone-marrow foam cells	OMIM:256550
Warty Dyskeratoma	Acantholysis	ORPHA:69745
Pediatric-Onset Graves Disease	Elevated circulating hepatic transaminase concentration, Keratitis, Failure to thrive, Episclerit...	ORPHA:525731
Ectodermal Dysplasia/Short Stature Syndrome	Dysphagia, Palmoplantar keratoderma, Hyperkeratosis	OMIM:616029
Glucose/Galactose Malabsorption	Hypertonic dehydration	OMIM:606824
Allergic Bronchopulmonary Aspergillosis	Emphysema, Abnormal eosinophil morphology, Weight loss, Bronchiectasis	ORPHA:1164
Cardiomyopathy, Dilated, 2D	Dilated cardiomyopathy, Cardiogenic shock, Tricuspid regurgitation, Reduced left ventricular ejec...	OMIM:619371
Corticosterone Methyloxidase Type Ii Deficiency	Dehydration	OMIM:610600
Pparg-Related Familial Partial Lipodystrophy	Hepatic steatosis, Splenomegaly, Hyperuricemia, Cirrhosis, Pancreatitis, Acanthosis nigricans, Hy...	ORPHA:79083
Corticosterone Methyloxidase Type I Deficiency	Dehydration	OMIM:203400
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 4	Arrhythmia, Ventricular bigeminy, Left bundle branch block, Elevated circulating creatine kinase ...	OMIM:610131
Pigmentary Disorder, Reticulate, With Systemic Manifestations, X-Linked	Recurrent pneumonia, Increased circulating interleukin 8 concentration, Failure to thrive in infa...	OMIM:301220
Syndromic Diarrhea	Hepatic fibrosis, Abnormality of iron homeostasis, Small for gestational age, Peripheral pulmonar...	ORPHA:84064
Spondyloenchondrodysplasia With Immune Dysregulation	Pneumonia, Rheumatoid arthritis, Hypermelanotic macule, Recurrent otitis media, Lymphopenia, Viti...	OMIM:607944
Acute Liver Failure	Elevated circulating hepatic transaminase concentration, Hepatitis, Hepatocellular necrosis, Hepa...	ORPHA:90062
Bachmann-Bupp Syndrome	Dry skin	OMIM:619075
Diffuse Alveolar Hemorrhage	Elevated circulating creatinine concentration, Leukocytosis, Decreased circulating complement C4 ...	ORPHA:90060
Chronic Visceral Acid Sphingomyelinase Deficiency	Cholelithiasis, Hepatic failure, Decreased liver function, Abnormal circulating lipid concentrati...	ORPHA:77293
Neutral Lipid Storage Disease With Ichthyosis	Elevated circulating hepatic transaminase concentration, Micronodular cirrhosis, Abnormal circula...	ORPHA:98907
Focal Facial Dermal Dysplasia Type Iii	Prematurely aged appearance, Redundant skin	ORPHA:1807
Osteopetrosis, Autosomal Recessive 5	Hepatic failure, Stillbirth, Extramedullary hematopoiesis, Ascites, Hepatosplenomegaly, Pancytope...	OMIM:259720
Peripheral Motor Neuropathy-Dysautonomia Syndrome	Acrocyanosis	ORPHA:2400
Barber-Say Syndrome	Dry skin, Dermal translucency, Redundant skin, Premature skin wrinkling	OMIM:209885
Reynolds Syndrome	Irregular hyperpigmentation, Ascites, Skin rash, Infectious encephalitis, Cirrhosis, Keratoconjun...	ORPHA:779
Mitochondrial Dna Depletion Syndrome 4A (Alpers Type)	Hepatic failure, Elevated circulating hepatic transaminase concentration, Acute hepatic failure, ...	OMIM:203700
Noonan Syndrome 14	Webbed neck, Bruising susceptibility, Dry skin	OMIM:619745
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome	Recurrent pneumonia, Recurrent upper respiratory tract infections, Failure to thrive, Recurrent o...	ORPHA:293978
Cholestasis, Benign Recurrent Intrahepatic, 2	Intrahepatic cholestasis, Cholelithiasis, Elevated circulating alkaline phosphatase concentration...	OMIM:605479
Ataxia-Telangiectasia-Like Disorder 2	Progeroid facial appearance, Cutaneous telangiectasia, Cutaneous photosensitivity, Conjunctival t...	OMIM:615919
Bleeding Disorder, Platelet-Type, 21	Eczematoid dermatitis, Psoriasiform dermatitis, Impaired ADP-induced platelet aggregation, Thromb...	OMIM:617443
Congenital Disorder Of Glycosylation, Type Ib	Hypoalbuminemia, Hepatic fibrosis, Hepatic failure, Failure to thrive, Cirrhosis, Lymphangiectasi...	OMIM:602579
Ectodermal Dysplasia-Intellectual Disability-Central Nervous System Malformation Syndrome	Dry skin, Thin skin	ORPHA:1812
Buerger Disease	Livedo reticularis, Acrocyanosis	ORPHA:36258
Pulmonary Hypertension, Primary, 1	Elevated right atrial pressure, Right ventricular failure, Increased pulmonary vascular resistanc...	OMIM:178600
Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia	Dehydration	OMIM:560000
Progeroid Syndrome, Petty Type	Prematurely aged appearance, Cutis laxa, Redundant skin, Reduced subcutaneous adipose tissue	ORPHA:2963
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome	Abnormal blood inorganic cation concentration, Elevated circulating hepatic transaminase concentr...	ORPHA:309854
Propionic Acidemia	Hepatomegaly, Propionyl-CoA carboxylase deficiency, Hyperammonemia	ORPHA:35
Coenzyme Q10 Deficiency, Primary, 2	Aortic regurgitation, Pulmonary arterial hypertension, Mitral regurgitation	OMIM:614651
Trichohepatoenteric Syndrome 1	Hypoalbuminemia, Hepatic fibrosis, Hepatic failure, Hypermethioninemia, Increased circulating iro...	OMIM:222470
Combined Oxidative Phosphorylation Deficiency 51	Small for gestational age, Aspiration pneumonia	OMIM:619057
Acquired Methemoglobinemia	Methemoglobinemia, Hypoxemia, Cyanosis	ORPHA:464453
Mucopolysaccharidosis, Type Iiib	Recurrent upper respiratory tract infections, Splenomegaly, Reduced tissue alpha-N-acetylglucosam...	OMIM:252920
Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome	Facial telangiectasia in butterfly midface distribution, Lymphedema, Palpebral edema, Telangiecta...	OMIM:137940
Ige Responsiveness, Atopic	Allergic rhinitis, Increased circulating IgE level, Eczematoid dermatitis	OMIM:147050
Idiopathic Bronchiectasis	Emphysema, Respiratory tract infection, Cachexia, Acute infectious pneumonia, Recurrent lower res...	ORPHA:60033
Coronary Arterial Fistula	Aortic valve stenosis, Continuous heart murmur, Congestive heart failure, Abnormal EKG, Palpitati...	ORPHA:2041
Cataracts, Hearing Impairment, Nephrotic Syndrome, And Enterocolitis 1	Bone marrow hypocellularity, Enterocolitis, Hyperkeratosis, Failure to thrive	OMIM:301108
Trichothiodystrophy 1, Photosensitive	Telangiectasia, Dry skin, Cutaneous photosensitivity, Death in infancy	OMIM:601675
Toxic Epidermal Necrolysis	Erythema, Acantholysis, Skin ulcer	ORPHA:537
Osteootohepatoenteric Syndrome	Hepatic fibrosis, Portal fibrosis, Failure to thrive, Cholestasis, Microvesicular hepatic steatos...	OMIM:619377
Werner Syndrome	Prematurely aged appearance, Subcutaneous calcification, Progeroid facial appearance, Scleroderma	OMIM:277700
Peeling Skin Syndrome 1	Increased circulating IgE level, Eosinophilia, Pruritus, Erythroderma	OMIM:270300
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly	Hepatic fibrosis, Hepatic failure, Cholestasis, Obesity, Splenomegaly, Hepatomegaly	OMIM:615630
Fanconi Anemia, Complementation Group V	Bone marrow hypocellularity, Thrombocytopenia, Neutropenia, Anemia, Elevated circulating alpha-fe...	OMIM:617243
Acquired Hypertrichosis Lanuginosa	Thickened skin, Ichthyosis, Weight loss, Acanthosis nigricans, Lymphadenopathy, Hypopigmentation ...	ORPHA:2221
Dermatomyositis	Erythema, Shawl sign, Skin ulcer, V-sign, Dry skin, Cutaneous photosensitivity, Facial erythema, ...	ORPHA:221
Ciliary Dyskinesia, Primary, 1	Pneumonia, Atelectasis, Recurrent bronchitis, Chronic sinusitis, Chronic rhinitis, Asplenia, Chro...	OMIM:244400
Hyperpigmentation With Or Without Hypopigmentation, Familial Progressive	Hyperkeratosis	OMIM:145250
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome	Accessory spleen, Hepatic fibrosis, Severe B lymphocytopenia, Elevated circulating hepatic transa...	OMIM:620005
Segmental Outgrowth-Lipomatosis-Arteriovenous Malformation-Epidermal Nevus Syndrome	Excessive wrinkled skin	ORPHA:137608
Ethylmalonic Encephalopathy	Acrocyanosis, Petechiae, Ataxia	ORPHA:51188
Cleft Larynx, Posterior	Cyanosis	OMIM:215800
Granulomatosis With Polyangiitis	Diffuse alveolar hemorrhage, Keratitis, Elevated bronchoalveolar lavage fluid neutrophil proporti...	OMIM:608710
Livedoid Vasculopathy	Hyperpigmented streaks, Abnormality of complement system, Polycythemia, Abnormal circulating lipi...	ORPHA:542643
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome	Recurrent aspiration pneumonia, Abnormal circulating enzyme concentration or activity	ORPHA:2590
Erythrocytosis, Familial, 2	Hypotension, Increased hematocrit, Increased red blood cell mass, Increased circulating hemoglobi...	OMIM:263400
Ziegler-Huang Syndrome	Bone marrow hypocellularity, Neutropenia, Macrocytic anemia, Persistence of hemoglobin F	OMIM:620501
Donohue Syndrome	Hepatic fibrosis, Cholestasis, Pancreatic islet-cell hyperplasia, Severe failure to thrive, Acant...	OMIM:246200
Uremic Pruritus	Dry skin, Generalized abnormality of skin	ORPHA:94059
Pseudohypoaldosteronism, Type I, Autosomal Dominant	Dehydration	OMIM:177735
Tyrosinemia, Type I	Hypermethioninemia, Elevated circulating alpha-fetoprotein concentration, Hepatic failure, Elevat...	OMIM:276700
Spastic Paraplegia Type 2	Pulmonary embolism	ORPHA:99015
Tooth Agenesis, Selective, 4	Dry skin, Thin skin	OMIM:150400
Primary Hepatic Neuroendocrine Carcinoma	Elevated gamma-glutamyltransferase level, Elevated circulating hepatic transaminase concentration...	ORPHA:100085
Pulmonary Capillary Hemangiomatosis	Diffuse alveolar hemorrhage, Right ventricular failure, Hemothorax, Lymphadenopathy, Elevated pul...	ORPHA:199241
Pyoderma Gangrenosum	Inflammation of the large intestine, Rheumatoid arthritis, Increased circulating antibody level, ...	ORPHA:48104
Mycetoma	Pelvic mass, Osteomyelitis, Cobblestone-like hyperkeratosis, Abnormality of the lymphatic system,...	ORPHA:2583
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome	Bone marrow hypocellularity, Recurrent upper respiratory tract infections, Eczematoid dermatitis,...	ORPHA:508542
Cataract-Intellectual Disability-Hypogonadism Syndrome	Prematurely aged appearance	ORPHA:1387
African Trypanosomiasis	Difficulty walking, Hepatosplenomegaly, Akinesia, Splenomegaly, Aggressive behavior, Gait disturb...	ORPHA:3385
Cardiofaciocutaneous Syndrome	Webbed neck, Palmoplantar keratoderma, Lymphedema, Dry skin, Redundant skin, Ichthyosis, Excessiv...	ORPHA:1340
Pulmonary Alveolar Proteinosis, Acquired	Cyanosis, Hypoxemia, Brain abscess, Lung abscess	OMIM:610910
Smith-Lemli-Opitz Syndrome	Cholestatic liver disease, Hypoalbuminemia, Eczematoid dermatitis, Failure to thrive, Abnormal lu...	OMIM:270400
Malt Lymphoma	Posterior uveitis, Weight loss, Lymphadenopathy, Anemia, Recurrent respiratory infections, Medias...	ORPHA:52417
Gm1 Gangliosidosis	Thickened skin, Failure to thrive, Aspiration pneumonia, Hepatosplenomegaly, Splenomegaly, Infect...	ORPHA:354
Neurodevelopmental Disorder With Hypotonia, Neonatal Respiratory Insufficiency, And Thermodysregulation	Dry skin	OMIM:618797
Familial Pancreatic Carcinoma	Peritoneal abscess, Elevated circulating hepatic transaminase concentration, Pancreatic adenocarc...	ORPHA:1333
Nephronophthisis 19	Malformation of the hepatic ductal plate, Hepatic fibrosis, Cholestasis, Splenomegaly, Hepatomega...	OMIM:616217
Refsum Disease	Dry skin	ORPHA:773
Alg11-Cdg	Dry skin	ORPHA:280071
Familial Thrombocytosis	Chronic myelogenous leukemia, Transient ischemic attack, Cerebral ischemia, Splenomegaly, Acute m...	ORPHA:71493
Glycogen Storage Disease Ii	Reduced muscle alpha-1,4-glucosidase activity, Increased circulating lactate dehydrogenase concen...	OMIM:232300
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib	Inflammation of the large intestine, Periodontitis, Xanthelasma, Hepatic steatosis, Hepatomegaly,...	ORPHA:79259
Hypercarotenemia And Vitamin A Deficiency, Autosomal Recessive	Follicular hyperkeratosis	OMIM:277350
Autosomal Recessive Cutis Laxa Type 2A	Progeroid facial appearance, Excessive wrinkled skin	ORPHA:357058
Vipoma	Erythema, Subcutaneous lipoma, Ascites, Intermittent jaundice, Anorexia, Dehydration	ORPHA:97282
Neonatal Inflammatory Skin And Bowel Disease	Erythema, Psoriasiform dermatitis, Scaling skin, Generalized abnormality of skin	ORPHA:294023
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 7	Premature graying of hair, Emphysema, Lymphopenia, Portal hypertension, Thrombocytopenia, Anemia,...	OMIM:620365
Scorpion Envenomation	Cardiogenic shock, Prominent U wave, Congestive heart failure, Bundle branch block, Cardiac condu...	ORPHA:466677
Sengers Syndrome	Hypertrophic cardiomyopathy, Pulmonary arterial hypertension, Thrombocytopenia, Cardiac arrest, S...	OMIM:212350
Ehlers-Danlos Syndrome, Classic-Like, 2	Webbed neck, Poor wound healing, Bruising susceptibility, Redundant skin, Prominent superficial v...	OMIM:618000
Familial Mediterranean Fever	Erysipelas, Acute hepatic failure, Ascites, Leukocytosis, Skin rash, Splenomegaly, Orchitis, Peri...	ORPHA:342
Combined Immunodeficiency With Facio-Oculo-Skeletal Anomalies	Reduced natural killer cell count, Decreased lymphocyte proliferation in response to mitogen, Dec...	ORPHA:221139
Papillon-Lefèvre Syndrome	Periodontitis, Hypopigmented skin patches, Palmoplantar keratoderma, Pustule, Chronic furunculosi...	ORPHA:678
Interstitial Pneumonitis, Desquamative, Familial	Cyanosis	OMIM:263000
Carnitine Palmitoyl Transferase Ii Deficiency, Severe Infantile Form	Elevated circulating acylcarnitine concentration, Hepatic failure, Elevated circulating hepatic t...	ORPHA:228305
Blue Rubber Bleb Nevus	Microcytic anemia, Skin rash	ORPHA:1059
Mitochondrial Complex I Deficiency, Nuclear Type 35	Pulmonary arterial hypertension, Cardiomyopathy	OMIM:619003
Ablepharon-Macrostomia Syndrome	Dry skin, Premature skin wrinkling, Redundant skin, Thin skin	OMIM:200110
Hypotrichosis And Recurrent Skin Vesicles	Skin vesicle, Follicular hyperkeratosis	OMIM:613102
Hypohidrotic Ectodermal Dysplasia	Dry skin, Thin skin	ORPHA:238468
Diamond-Blackfan Anemia 6	Increased mean corpuscular volume, Failure to thrive, Persistence of hemoglobin F, Macrocytic ane...	OMIM:612561
Early-Onset Familial Hypoaldosteronism	Dehydration	ORPHA:556030
Takayasu Arteritis	Vasculitis, Hypertensive crisis, Hypertrophic cardiomyopathy, Cerebral ischemia, Pulmonary arteri...	ORPHA:3287
German Syndrome	Dysphagia, Hypokinesia	ORPHA:2077
Agel Amyloidosis	Dry skin, Cutis laxa, Bruising susceptibility, Dermatological manifestations of systemic disorders	ORPHA:85448
Diamond-Blackfan Anemia 3	Increased mean corpuscular volume, Elevated red cell adenosine deaminase activity, Persistence of...	OMIM:610629
3-Hydroxy-3-Methylglutaryl-Coa Lyase Deficiency	Pallor, Dehydration	OMIM:246450
Warburg-Cinotti Syndrome	Erythema, Thin skin, Poor wound healing, Follicular hyperkeratosis	OMIM:618175
Deafness, Neural, With Atypical Atopic Dermatitis	Increased circulating IgE level, Late onset atopic dermatitis	OMIM:221700
Werner Syndrome	Subcutaneous calcification, Skin ulcer, Premature graying of hair, Lack of skin elasticity, Telan...	ORPHA:902
Erythrocytosis, Familial, 5	Increased circulating hemoglobin concentration, Increased hematocrit, Polycythemia	OMIM:617907
Stevens-Johnson Syndrome	Erythema, Acantholysis	ORPHA:36426
Familial Multiple Nevi Flammei	Arrhythmia, Pulmonary embolism, Intracranial hemorrhage	ORPHA:624
Klatskin Tumor	Weight loss, Cholangiocarcinoma, Lymphadenopathy, Hepatomegaly, Jaundice, Extrahepatic cholestasis	ORPHA:99978
Hypocalcemic Vitamin D-Dependent Rickets	Hypochromic anemia, Failure to thrive, Leukocytosis, Splenomegaly, Elevated circulating alkaline ...	ORPHA:289157
Milroy Disease	Predominantly lower limb lymphedema, Hyperkeratosis, Pedal edema, Lymphedema	ORPHA:79452
Alpha-Thalassemia Myelodysplasia Syndrome	Reduced alpha/beta synthesis ratio, HbH hemoglobin, Hypochromic microcytic anemia	OMIM:300448
Presynaptic Congenital Myasthenic Syndromes	Tip-toe gait, Difficulty walking, Cyanosis, Ataxia, Choking episodes, Dysphagia, Waddling gait	ORPHA:98914
Congenital Myasthenic Syndrome	Tip-toe gait, Difficulty walking, Cyanosis, Ataxia, Choking episodes, Dysphagia, Waddling gait	ORPHA:590
Kanzaki Disease	Lymphedema, Dry skin, Petechiae, Telangiectasia of the oral mucosa, Angiokeratoma corporis diffus...	OMIM:609242
Scedosporiosis	Pneumonia, Unusual skin infection, Bronchitis, Osteomyelitis, Sinusitis, Arthralgia/arthritis, Se...	ORPHA:449280
Eosinophilic Fasciitis	Eosinophilia, Abnormal eosinophil morphology, Acrocyanosis	ORPHA:3165
Familial Chylomicronemia Syndrome	Pulmonary embolism, Hepatosplenomegaly, Hepatic steatosis, Recurrent pancreatitis, Jaundice, Acut...	ORPHA:444490
Hereditary Hemorrhagic Telangiectasia	Nasal mucosa telangiectasia, Telangiectasia, Cirrhosis, Retinal telangiectasia, Cholelithiasis, G...	ORPHA:774
Dermatosparaxis Ehlers-Danlos Syndrome	Abnormality of subcutaneous fat tissue, Excessive wrinkled skin, Thin skin	ORPHA:1901
Choanal Atresia	Choking episodes, Cyanosis	ORPHA:137914
Hyperchlorhidrosis, Isolated	Hypernatremic dehydration	OMIM:143860
Cardiofaciocutaneous Syndrome 3	Webbed neck, Hyperkeratosis	OMIM:615279
Total Anomalous Pulmonary Venous Return 1	Pulmonary arterial hypertension	OMIM:106700
Granulomatosis With Polyangiitis	Recurrent intrapulmonary hemorrhage, Otitis media, Skin rash, Increased inflammatory response, Pr...	ORPHA:900
Cryohydrocytosis	Pseudohyperkalemia, Stomatocytosis, Splenomegaly, Reticulocytosis, Hemolytic anemia	OMIM:185020
Autosomal Dominant Hyper-Ige Syndrome Due To Stat3 Deficiency	Eczematoid dermatitis, Atelectasis, Increased circulating IgE level, Osteomyelitis, Skin rash, Eo...	ORPHA:2314
Aromatic L-Amino Acid Decarboxylase Deficiency	Dysphagia, Hypokinesia	ORPHA:35708
Erythrocytosis, Familial, 3	Increased circulating hemoglobin concentration, Increased hematocrit, Increased red blood cell mass	OMIM:609820
Mucopolysaccharidosis, Type Iiia	Hepatomegaly, Recurrent upper respiratory tract infections, Reduced leukocyte N-sulfoglucosamine ...	OMIM:252900
Diabetes Insipidus, Nephrogenic, 2, Autosomal	Polydipsia, Hypertonic dehydration	OMIM:125800
Diabetes Insipidus, Nephrogenic, 1, X-Linked	Polydipsia, Hypertonic dehydration	OMIM:304800
Adams-Oliver Syndrome 5	Hypersplenism, Splenomegaly, Portal vein thrombosis, Pulmonary arterial hypertension, Pulmonic st...	OMIM:616028
Rapp-Hodgkin Syndrome	Dry skin, Anhidrotic ectodermal dysplasia, Thin skin	OMIM:129400
Immunodeficiency, Common Variable, 10	Decreased circulating IgG level, Recurrent pneumonia, Recurrent otitis media, Decreased circulati...	OMIM:615577
Gaucher Disease Type 3	Pancytopenia, Splenomegaly, Increased circulating antibody level, Hepatomegaly, Thrombocytopenia,...	ORPHA:77261
Systemic Lupus Erythematosus	Discoid lupus rash, Decreased circulating complement C3 concentration, Leukopenia, Malar rash, De...	ORPHA:536
Pulmonary Non-Tuberculous Mycobacterial Infection	Pleural effusion, Weight loss, Pneumothorax, Lymphadenopathy, Bronchiectasis	ORPHA:411703
Incontinentia Pigmenti	Erythema, Telangiectasia of the skin, Hyperkeratosis, Skin ulcer	ORPHA:464
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form	Erythema, Palmoplantar keratoderma, Fragile skin, Generalized abnormality of skin	ORPHA:79396
Cutis Laxa, Autosomal Recessive, Type Iia	Cutis laxa, Redundant skin, Excessive wrinkled skin	OMIM:219200
Renal-Hepatic-Pancreatic Dysplasia 1	Malformation of the hepatic ductal plate, Hepatic fibrosis, Pulmonary hypoplasia, Biliary cirrhos...	OMIM:208540
Chromosome 19Q13.11 Deletion Syndrome, Distal	Dry skin, Reduced subcutaneous adipose tissue	OMIM:613026
Relapsing Polychondritis	Uveitis, Keratitis, Hepatitis, Atelectasis, Recurrent aphthous stomatitis, Chondritis, Episclerit...	ORPHA:728
Keppen-Lubinsky Syndrome	Polyhydramnios, Progeroid facial appearance, Premature skin wrinkling	ORPHA:435628
Blau Syndrome	Posterior uveitis, Keratitis, Abnormality of the liver, Skin rash, Splenomegaly, Ichthyosis, Syno...	ORPHA:90340
Hardikar Syndrome	Portal inflammation, Cholestasis, Hepatosplenomegaly, Hypersplenism, Hyperbilirubinemia, Cirrhosi...	OMIM:301068
Neurodevelopmental Disorder With Cerebral Atrophy And Variable Facial Dysmorphism	Dry skin	OMIM:619244
Limited Cutaneous Systemic Sclerosis	Telangiectasia of the skin, Pulmonary arterial hypertension, Mucosal telangiectasiae	ORPHA:220402
Dyskeratosis Congenita	Bone marrow hypocellularity, Hepatic failure, Periodontitis, Hypopigmented skin patches, White ha...	ORPHA:1775
B4Galt7-Related Spondylodysplastic Ehlers-Danlos Syndrome	Cutis laxa, Progeroid facial appearance, Thin skin	ORPHA:75496
Polymyositis	Elevated circulating creatine kinase concentration, Elevated circulating aldolase concentration, ...	ORPHA:732
Neuroleptic Malignant Syndrome	Elevated circulating hepatic transaminase concentration, Increased circulating lactate dehydrogen...	ORPHA:94093
Pancreatic Lipase Deficiency	Steatorrhea, Hypocholesterolemia	OMIM:614338
Glucagonoma	Intrahepatic cholestasis, Abnormal abdomen morphology, Increased circulating cortisol level, Asci...	ORPHA:97280
Renal-Hepatic-Pancreatic Dysplasia 2	Malformation of the hepatic ductal plate, Hepatic fibrosis, Abnormal lung lobation, Cholestasis, ...	OMIM:615415
Igg4-Related Thyroid Disease	Increased circulating IgG4 level, Hypocalcemia, Sclerosing cholangitis, Hashimoto thyroiditis, Pa...	ORPHA:64744
Senior-Boichis Syndrome	Malformation of the hepatic ductal plate, Hepatic fibrosis, Elevated circulating hepatic transami...	ORPHA:84081
Congenital Gerbode Defect	Elevated right atrial pressure, Right ventricular failure, Holosystolic murmur, Tricuspid regurgi...	ORPHA:99095
Immunoneurologic Disorder, X-Linked	Small for gestational age, Decreased circulating IgG2 level, Neonatal death	OMIM:300076
Laryngotracheal Angioma	Cyanosis	ORPHA:137935
Hyperparathyroidism, Neonatal Severe	Failure to thrive, Splenomegaly, Hepatomegaly, Hypophosphatemia, Calcinosis, Anemia, Hypercalcemia	OMIM:239200
Timothy Syndrome	Pneumonia, Bronchitis, Hypocalcemia, Cardiomegaly, Patent ductus arteriosus	OMIM:601005
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 1	Poor wound healing, Bruising susceptibility, Excessive wrinkled skin, Palmoplantar cutis laxa, Fo...	OMIM:225400
Fontaine Progeroid Syndrome	Premature skin wrinkling, Redundant skin, Reduced subcutaneous adipose tissue, Death in infancy, ...	OMIM:612289
Leukocyte Adhesion Deficiency	Lymphocytic interstitial pneumonia, Impaired neutrophil chemotaxis, Acute myeloid leukemia, Glome...	ORPHA:2968
Congenital-Onset Steinert Myotonic Dystrophy	Bundle branch block, First degree atrioventricular block	ORPHA:589821
Parkinson Disease 1, Autosomal Dominant	Shuffling gait, Hypokinesia, Loss of ambulation, Gait disturbance, Dysphagia	OMIM:168601
Chronic Thromboembolic Pulmonary Hypertension	Increased HDL cholesterol concentration, Right ventricular failure, Pulmonary embolism, Congestiv...	ORPHA:70591
Localized Scleroderma	Thickened skin, Erythema	ORPHA:90289
Chronic Myeloid Leukemia	Abnormal granulocyte morphology, Leukocytosis, Splenomegaly, Abnormal basophil morphology, Thromb...	ORPHA:521
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 1	Hepatomegaly, Failure to thrive, Anisocytosis	OMIM:604273
Geroderma Osteodysplastica	Prematurely aged appearance, Redundant skin, Thin skin	ORPHA:2078
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of	Periportal fibrosis, Decreased circulating carnitine concentration, Hepatocellular necrosis, Hepa...	OMIM:201475
Congenital Fibrinogen Deficiency	Subcutaneous hemorrhage, Cyanosis, Splenic rupture, Bruising susceptibility	ORPHA:335
Hereditary Pulmonary Alveolar Proteinosis	Crazy paving pattern, Failure to thrive in infancy, Elevated circulating carcinoembryonic antigen...	ORPHA:264675
Methemoglobinemia And Ambiguous Genitalia	Methemoglobinemia, Cyanosis	OMIM:250790
Acute Disseminated Encephalomyelitis	Optic neuritis, Myelitis, Herpes simplex encephalitis, Viral hepatitis	ORPHA:83597
Autosomal Recessive Cutis Laxa Type 2, Classic Type	Prominent veins on trunk, Redundant skin, Redundant neck skin, Excessive wrinkled skin, Abnormal ...	ORPHA:357074
Incontinentia Pigmenti	Erythema, Pallor, Hyperkeratosis	OMIM:308300
Costello Syndrome	Redundant skin, Lack of skin elasticity, Acanthosis nigricans, Polyhydramnios, Hyperkeratosis	ORPHA:3071
Hyperlipoproteinemia, Type I	Lactescent serum, Increased circulating chylomicron concentration, Hepatosplenomegaly, Hyperlipid...	OMIM:238600
Carnitine Palmitoyltransferase I Deficiency	Elevated circulating hepatic transaminase concentration, Elevated circulating aspartate aminotran...	OMIM:255120
Pearson Syndrome	Pancytopenia, Hepatic steatosis, Hypophosphatemia, Neutropenia, Hepatomegaly, Hypoplastic spleen,...	ORPHA:699
Carcinoid Syndrome	Abnormal circulating B-type natriuretic peptide concentration, Hepatic necrosis, Chronic noninfec...	ORPHA:100093
Autosomal Dominant Cutis Laxa	Premature skin wrinkling, Redundant skin, Redundant neck skin, Cutis laxa, Dermal translucency, P...	ORPHA:90348
Hereditary Orotic Aciduria	Impaired T cell function, Splenomegaly, Anemia, Recurrent respiratory infections, Patent ductus a...	ORPHA:30
Renal Hypoplasia	Polydipsia, Dehydration	ORPHA:93101
Chronic Graft Versus Host Disease	Erythema, Thickened skin, Xerostomia, Poor wound healing, Skin ulcer, Ascites, Pleural effusion, ...	ORPHA:99921
Infection-Related Hemolytic Uremic Syndrome	Pneumonia, Abnormal circulating chemokine concentration, Brain abscess, Increased circulating int...	ORPHA:544482
Hermansky-Pudlak Syndrome 10	Albinism, Ocular albinism, Splenomegaly, Neutropenia, Hepatomegaly, Abnormal pulmonary interstiti...	OMIM:617050
Complement Factor B Deficiency	Pneumonia, Decreased circulating complement factor B concentration, Peritonitis	OMIM:615561
Mixed-Type Autoimmune Hemolytic Anemia	Increased total bilirubin, Skin rash, Autoimmune hemolytic anemia	ORPHA:90036
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 5	Pneumonia, Right ventricular hypertrophy, Elevated circulating creatine kinase concentration	OMIM:253700
Hemorrhagic Fever-Renal Syndrome	Pneumonia, Elevated circulating hepatic transaminase concentration, Hyperphosphatemia, Increased ...	ORPHA:340
Infantile Dystonia-Parkinsonism	Hypokinesia	ORPHA:238455
Cholera	Palmoplantar cutis laxa, Dehydration	ORPHA:173
Autosomal Recessive Malignant Osteopetrosis	Splenomegaly, Otitis media, Chronic rhinitis, Hypocalcemia, Hepatomegaly, Pulmonary artery stenos...	ORPHA:667
Combined Oxidative Phosphorylation Deficiency 41	Anemia, Decreased circulating cortisol level, Cardiomegaly, Elevated circulating creatine kinase ...	OMIM:618838
Thrombocytopenia, Anemia, And Myelofibrosis	Anemia, Splenomegaly, Thrombocytopenia, Anisopoikilocytosis	OMIM:617441
Anemia, Sideroblastic, 5	Reduced hematocrit, Hypochromic microcytic anemia, Thrombocytopenia, Anemia, Neutropenia	OMIM:619523
De Barsy Syndrome	Progeroid facial appearance, Prominent veins on trunk, Excessive wrinkled skin, Cutis laxa, Derma...	ORPHA:2962
Hennekam Syndrome	Chylothorax, Erysipelas, Ascites, Lymphopenia, Decreased circulating antibody level, Splenomegaly...	ORPHA:2136
Mucoepithelial Dysplasia, Hereditary	Pneumonia, Recurrent pneumonia, Chronic mucocutaneous candidiasis, Keratoconjunctivitis, Eosinoph...	OMIM:158310
Mitochondrial Myopathy, Episodic, With Or Without Optic Atrophy And Reversible Leukoencephalopathy	Microcytic anemia, Elevated circulating creatine kinase concentration, Neutropenia, Hepatomegaly,...	OMIM:251900
Erythrocytosis, Familial, 7	Increased circulating hemoglobin concentration, Increased hematocrit, Polycythemia	OMIM:617981
Erythrocytosis, Familial, 6	Increased circulating hemoglobin concentration, Increased hematocrit, Polycythemia	OMIM:617980
Benign Familial Neonatal Epilepsy	Circumoral cyanosis	ORPHA:1949
Kaposiform Lymphangiomatosis	Pancreatic cysts, Hepatosplenomegaly, Pleural effusion, Splenomegaly, Abnormal lymphatic vessel m...	ORPHA:464329
Mitochondrial Complex Iii Deficiency, Nuclear Type 6	Dehydration	OMIM:615453
3-Methylglutaconic Aciduria, Type Viib	Polyhydramnios, Dehydration	OMIM:616271
Neuroendocrine Tumor Of Stomach	Hepatic failure, Elevated circulating hepatic transaminase concentration, Chronic noninfectious l...	ORPHA:100075
Cardiofaciocutaneous Syndrome 1	Atopic dermatitis, Failure to thrive, Multiple lentigines, Splenomegaly, Ichthyosis, Hyperpigment...	OMIM:115150
Pseudoxanthoma Elasticum	Bruising susceptibility, Striae distensae, Excessive wrinkled skin, Lack of skin elasticity, Tela...	ORPHA:758
Yellow Fever	Pancreatic hyperplasia, Elevated circulating aspartate aminotransferase concentration, Elevated c...	ORPHA:99829
Dysferlin-Related Limb-Girdle Muscular Dystrophy R2	Reduced left ventricular ejection fraction, Abnormal EKG, Right bundle branch block, Elevated cir...	ORPHA:268
Laron Syndrome	Prematurely aged appearance	ORPHA:633
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome	Cholelithiasis, Eczematoid dermatitis, Pancreatic hypoplasia, Failure to thrive, Superficial derm...	ORPHA:83617
Subaortic Stenosis-Short Stature Syndrome	Obesity, Acne, Abnormal circulating lipid concentration, Biliary tract abnormality	ORPHA:3191
Mandibuloacral Dysplasia With Type A Lipodystrophy	Lack of skin elasticity, Prematurely aged appearance, Progeroid facial appearance, Thin skin	ORPHA:90153
Car T Cell Therapy-Associated Cytokine Release Syndrome	Abnormal circulating interleukin concentration, Elevated circulating hepatic transaminase concent...	ORPHA:542323
Ogden Syndrome	Facial wrinkling, Lymphedema, Oligohydramnios, Redundant skin, Redundant neck skin, Pulmonary ede...	OMIM:300855
Septo-Optic Dysplasia Spectrum	Dry skin	ORPHA:3157
Neurodevelopmental Disorder With Epilepsy And Brain Atrophy	Recurrent aspiration pneumonia	OMIM:619971
Gallbladder Neuroendocrine Tumor	Biliary tract neoplasm, Elevated gamma-glutamyltransferase level, Ascites, Chronic noninfectious ...	ORPHA:100086
Cutis Laxa, Autosomal Dominant 1	Poor wound healing, Progeroid facial appearance, Redundant skin, Cutis laxa, Prematurely aged app...	OMIM:123700
Congenital Generalized Lipodystrophy	Failure to thrive, Hepatic steatosis, Cirrhosis, Hypercholesterolemia, Acanthosis nigricans, Hype...	ORPHA:528
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease	Oligohydramnios, Dehydration, Neonatal death	OMIM:263200
Kid Syndrome	Folliculitis, Posterior blepharitis, Acne inversa, Keratitis, Palmoplantar keratoderma, Failure t...	ORPHA:477
Kindler Epidermolysis Bullosa	Erythema, Palmoplantar keratoderma, Cutaneous photosensitivity, Hyperkeratosis, Dysphagia	ORPHA:2908
Scleromyxedema	Thickened skin, Generalized abnormality of skin, Dysphagia, Aged leonine appearance, Sclerodactyly	ORPHA:167635
Den Hoed-De Boer-Voisin Syndrome	Death in adolescence, Dry skin	OMIM:619229
Hypotrichosis With Juvenile Macular Degeneration	Hyperkeratosis	ORPHA:1573
Ullrich Congenital Muscular Dystrophy 1A	Failure to thrive, Slender build, Follicular hyperkeratosis, Recurrent lower respiratory tract in...	OMIM:254090
Primary Ciliary Dyskinesia	Polysplenia, Atelectasis, Recurrent otitis media, Pulmonary situs ambiguus, Respiratory tract inf...	ORPHA:244
Alpha-Thalassemia-Intellectual Disability Syndrome Linked To Chromosome 16	Microcytic anemia, HbH hemoglobin, Failure to thrive	ORPHA:98791
Hypoadrenocorticism, Familial	Cyanosis	OMIM:240200
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly	Hepatic failure, Pancreatic lymphangiectasis, Ascites, Splenomegaly, Hypocalcemia, Thyroid lympha...	OMIM:235255
Pseudo-Torch Syndrome 2	Elevated circulating hepatic transaminase concentration, Ascites, Pleural effusion, Thrombocytope...	OMIM:617397
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type	Death in infancy, Hypokinesia, Death in childhood	OMIM:613320
Congenital Heart Block	Cyanosis	ORPHA:60041
Congenital Erythropoietic Porphyria	Seborrhoeic blepharitis, Thickened skin, Hypopigmentation of the skin, Leukopenia, Erythroid hype...	ORPHA:79277
Wiskott-Aldrich Syndrome	Inflammation of the large intestine, Abnormal eosinophil morphology, Acute leukemia, Microcytic a...	ORPHA:906
Infant Acute Respiratory Distress Syndrome	Cyanosis, Hypoxemia	ORPHA:70587
Ectodermal Dysplasia 1, Hypohidrotic, X-Linked	Dry skin, Hypohidrotic ectodermal dysplasia, Periorbital wrinkles, Thin skin	OMIM:305100
Leukocyte Adhesion Deficiency Type Ii	Recurrent pneumonia, Keratitis, Failure to thrive, Recurrent otitis media, Microcytic anemia, Leu...	ORPHA:99843
Surfactant Metabolism Dysfunction, Pulmonary, 1	Cyanosis, Death in infancy, Neonatal death	OMIM:265120
Ablepharon Macrostomia Syndrome	Dry skin, Redundant skin, Excessive wrinkled skin, Thin skin	ORPHA:920
Hyperoxaluria, Primary, Type I	Cutis marmorata, Acrocyanosis, Dehydration	OMIM:259900
Phosphoserine Aminotransferase Deficiency, Infantile/Juvenile Form	Cyanotic episode	ORPHA:284417
9P13 Microdeletion Syndrome	Dry skin	ORPHA:324313
Cranioectodermal Dysplasia 3	Dry skin, Cutis laxa, Ectodermal dysplasia	OMIM:614099
Peroxisome Biogenesis Disorder 13A (Zellweger)	Intrahepatic cholestasis, Increased circulating very long-chain fatty acid concentration, Elevate...	OMIM:614887
Congenital Disorder Of Glycosylation, Type Iiaa	Hepatic fibrosis, Hepatic failure, Nodular regenerative hyperplasia of liver, Biliary cirrhosis, ...	OMIM:620454
Nephroblastoma	Neoplasm of the liver, Weight loss, Lymphadenopathy, Neoplasm of the lung	ORPHA:654
Adrenal Hypoplasia, Congenital	Dehydration	OMIM:300200
Cockayne Syndrome Type 1	Pigmentary retinopathy, Elevated circulating hepatic transaminase concentration, Failure to thriv...	ORPHA:90321
Hepatoerythropoietic Porphyria	Seborrhoeic blepharitis, Thickened skin, Hypopigmentation of the skin, Erythroid hyperplasia, Abn...	ORPHA:95159
Peroxisome Biogenesis Disorder 2A (Zellweger)	Elevated circulating long chain fatty acid concentration, Pigmentary retinopathy, Failure to thri...	OMIM:214110
Cidec-Related Familial Partial Lipodystrophy	Hepatic steatosis, Acanthosis nigricans, Pancreatitis, Hypertriglyceridemia, Hepatomegaly	ORPHA:435651
Hughes-Stovin Syndrome	Vasculitis, Pulmonary arterial hypertension, Pulmonary embolism	ORPHA:228116
Hypopigmentation, Organomegaly, And Delayed Myelination And Development	Hypopigmentation of the skin, Splenomegaly, Hepatomegaly, Hypopigmentation of hair, Cafe-au-lait ...	OMIM:618541
3-Hydroxy-3-Methylglutaryl-Coa Synthase-2 Deficiency	Increased circulating free fatty acid level, Elevated circulating hepatic transaminase concentrat...	OMIM:605911
Hermansky-Pudlak Syndrome	Iris hypopigmentation, Thickened skin, Hypopigmentation of the skin, Ocular albinism, Partial alb...	ORPHA:79430
Postsynaptic Congenital Myasthenic Syndromes	Cyanosis	ORPHA:98913
Acquired Generalized Lipodystrophy	Abnormality of complement system, Abnormal circulating lipid concentration, Generalized hyperpigm...	ORPHA:79086
Lipodystrophy, Familial Partial, Type 5	Hepatic steatosis, Acanthosis nigricans, Hypertriglyceridemia, Hepatomegaly, Increased C-peptide ...	OMIM:615238
Premature Aging Syndrome, Penttinen Type	Thickened skin, Corneal stromal edema, Palmoplantar hyperkeratosis, Prominent superficial veins, ...	OMIM:601812
Microcephaly, Cerebellar Hypoplasia, And Cardiac Conduction Defect Syndrome	Truncal ataxia, Acrocyanosis	OMIM:614407
Koolen-De Vries Syndrome	Dry skin	ORPHA:96169
Congenital Disorder Of Glycosylation, Type Ig	Decreased circulating IgG level, Recurrent pneumonia, Small for gestational age, Recurrent upper ...	OMIM:607143
Hoyeraal-Hreidarsson Syndrome	Excessive wrinkled skin, Premature graying of hair	ORPHA:3322
Non-Progressive Predominantly Posterior Cavitating Leukoencephalopathy With Peripheral Neuropathy	Pigmentary retinopathy, Failure to thrive, Decreased liver function, Hepatomegaly, Anemia, Diffus...	ORPHA:436271
Naegeli-Franceschetti-Jadassohn Syndrome	Dry skin	ORPHA:69087
Linear Verrucous Nevus Syndrome	Hypophosphatemia, Hyperkeratosis	ORPHA:2611
Cryptococcosis	Pneumonia, Osteomyelitis, Nodular pattern on pulmonary HRCT, Pleural effusion, Peritonitis, Prost...	ORPHA:1546
Chime Syndrome	Erythema, Hyperkeratosis, Ichthyosis, Skin ulcer	ORPHA:3474
Mucopolysaccharidosis, Type Ii	Recurrent pneumonia, Recurrent otitis media, Hepatosplenomegaly, Splenomegaly, Abnormality of ret...	OMIM:309900
Microvillus Inclusion Disease	Dehydration	ORPHA:2290
Developmental And Epileptic Encephalopathy 28	Hypokinesia, Ataxia	OMIM:616211
Hyperzincemia With Functional Zinc Depletion	Hepatomegaly, Increased serum zinc, Skin rash	OMIM:601979
X-Linked Centronuclear Myopathy	Pneumonia, Recurrent respiratory infections	ORPHA:596
Mitochondrial Phosphate Carrier Deficiency	Cyanosis	OMIM:610773
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy	Astrocytosis	ORPHA:258
Campomelia, Cumming Type	Oligohydramnios, Prematurely aged appearance, Hydrops fetalis, Lymphedema	ORPHA:1318
Mounier-Kühn Syndrome	Pneumonia, Recurrent respiratory infections, Bronchitis, Recurrent bronchopulmonary infections	ORPHA:3347
Rothmund-Thomson Syndrome	Hypopigmentation of the skin, Aplastic anemia, Porokeratosis, Malar rash, Skin rash, Reticular hy...	ORPHA:2909
Opitz-Kaveggia Syndrome	Attention deficit hyperactivity disorder, Facial wrinkling	OMIM:305450
Lipodystrophy, Generalized, With Impaired Intellectual Development, Deafness, Short Stature, And Slender Bones	Progeroid facial appearance	OMIM:608154
Fucosidosis	Failure to thrive, Generalized hyperkeratosis, Abnormality of the gallbladder, Cardiomegaly, Hepa...	ORPHA:349
X-Linked Immunoneurologic Disorder	Abnormal pleura morphology, Decreased circulating IgG2 level, Recurrent respiratory infections	ORPHA:2571
Coach Syndrome 1	Hepatic fibrosis, Elevated circulating hepatic transaminase concentration, Abnormal abdomen morph...	OMIM:216360
Congenital Tufting Enteropathy	Dehydration	ORPHA:92050
Chronic Actinic Dermatitis	Allergic rhinitis, Eczematoid dermatitis, Hypopigmented skin patches, Progressive hyperpigmentati...	ORPHA:330064
Ichthyosis, Congenital, Autosomal Recessive 11	Pruritus, Hyperkeratosis, Blepharitis, Congenital ichthyosiform erythroderma	OMIM:602400
Glucose-Galactose Malabsorption	Dehydration	ORPHA:35710
Nestor-Guillermo Progeria Syndrome	Dry skin, Prominent superficial veins, Progeroid facial appearance	OMIM:614008
Scheie Syndrome	Hepatomegaly, Rhinitis, Splenomegaly	ORPHA:93474
Immunodeficiency 77	Bronchiectasis, Recurrent tonsillitis, Cutaneous abscess	OMIM:619223
Congenital Disorder Of Glycosylation, Type Iiw	Elevated gamma-glutamyltransferase level, Elevated circulating hepatic transaminase concentration...	OMIM:619525
Asbestos Intoxication	Oxygen desaturation on exertion, Hypoxemia, Cyanosis	ORPHA:2302
Chronic Pneumonitis Of Infancy	Hypoxemia, Cyanosis	ORPHA:91359
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome	Decreased circulating IgG level, Recurrent pneumonia, Decreased lymphocyte proliferation in respo...	ORPHA:508533
Medullary Thyroid Carcinoma	Abnormal liver parenchyma morphology, Weight loss, Lymphadenopathy, Neoplasm of the lung	ORPHA:1332
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Intermediate Form	Hypoalbuminemia, Decreased circulating iron concentration, Decreased circulating carnitine concen...	ORPHA:89842
Dubin-Johnson Syndrome	Abnormality of the liver, Biliary tract abnormality, Hepatomegaly, Jaundice, Conjugated hyperbili...	ORPHA:234
Methylmalonic Aciduria And Homocystinuria, Cblj Type	Decreased methionine synthase activity, Pulmonary arterial hypertension, Thrombocytopenia, Neutro...	OMIM:614857
Elliptocytosis 1	Jaundice, Hemolytic anemia, Splenomegaly, Elliptocytosis	OMIM:611804
Diarrhea 1, Secretory Chloride, Congenital	Polyhydramnios, Dehydration	OMIM:214700
Trichothiodystrophy 5, Nonphotosensitive	Cutis marmorata, Cutaneous photosensitivity, Progeroid facial appearance	OMIM:300953
Carnitine-Acylcarnitine Translocase Deficiency	Reduced tissue carnitine-acylcarnitine translocase activity, Elevated circulating hepatic transam...	OMIM:212138
Adult Acute Respiratory Distress Syndrome	Pneumonia, Abnormal circulating interleukin concentration, Abnormality of tumor necrosis factor s...	ORPHA:70578
Hemolytic Uremic Syndrome, Atypical, 8, With Rhizomelic Short Stature	Lymphopenia, Leukopenia, Elevated circulating creatinine concentration, Reduced haptoglobin level...	OMIM:301110
Juvenile Neuronal Ceroid Lipofuscinosis	Pigmentary retinopathy, Abnormal circulating enzyme concentration or activity, Aspiration pneumonia	ORPHA:79264
Yellow Nail Syndrome	Biliary tract neoplasm, Recurrent respiratory infections, Hypoplasia of lymphatic vessels, Sinusi...	ORPHA:662
Rothmund-Thomson Syndrome Type 2	Facial edema, Erythema, Porokeratosis, Facial erythema, Plantar hyperkeratosis	ORPHA:221016
Argininemia	Portal fibrosis, Micronodular cirrhosis, Cholestasis, Hyperammonemia, Hyperargininemia, Hepatomeg...	OMIM:207800
Hypermanganesemia With Dystonia 2	Tip-toe gait, Hypokinesia, Inability to walk, Scissor gait, Gait disturbance	OMIM:617013
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome	Hepatic failure, Pancreatic lymphangiectasis, Ascites, Hepatosplenomegaly, Splenomegaly, Hypocalc...	ORPHA:1655
Congenital Disorder Of Glycosylation, Type Iie	Failure to thrive, Decreased liver function, Elevated circulating aspartate aminotransferase conc...	OMIM:608779
Methylmalonic Aciduria And Homocystinuria, Cblc Type	Pigmentary retinopathy, Cystathioninemia, Decreased methylmalonyl-CoA mutase activity, Failure to...	OMIM:277400
Bronchiolitis Obliterans	Pneumonia, Respiratory tract infection, Bronchiolitis obliterans, Bronchiectasis	ORPHA:1303
Lipodystrophy, Congenital Generalized, Type 2	Elevated circulating hepatic transaminase concentration, Hepatic steatosis, Splenomegaly, Cirrhos...	OMIM:269700
Holocarboxylase Synthetase Deficiency	Hyperammonemia, Skin rash, Thrombocytopenia, Reduced holocarboxylase synthetase activity in cultu...	OMIM:253270
Wiedemann-Rautenstrauch Syndrome	Premature skin wrinkling, Prominent scalp veins, Dry skin, Reduced subcutaneous adipose tissue, P...	OMIM:264090
Fucosidosis	Dry skin, Bruising susceptibility, Angiokeratoma, Petechiae	OMIM:230000
C3 Glomerulopathy	Paraproteinemia, Elevated circulating creatinine concentration, Decreased circulating complement ...	ORPHA:329918
Bronchogenic Cyst	Pneumonia, Pulmonary cyst, Bronchogenic cyst, Atelectasis, Abnormal pleura morphology, Abnormal p...	ORPHA:2357
Fanconi-Bickel Syndrome	Hepatic failure, Failure to thrive, Elevated circulating aspartate aminotransferase concentration...	ORPHA:2088
Carnitine Palmitoyltransferase Ii Deficiency	Elevated circulating acylcarnitine concentration, Hepatic failure, Decreased plasma free carnitin...	ORPHA:157
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset	Increased circulating lactate dehydrogenase concentration, Failure to thrive, Abnormal circulatin...	ORPHA:308552
Cerebellar Ataxia, Brain Abnormalities, And Cardiac Conduction Defects	Tricuspid regurgitation, Right bundle branch block, Mitral regurgitation	OMIM:619576
Histiocytoid Cardiomyopathy	Junctional ectopic tachycardia, Atrioventricular block, Atrial flutter, Congestive heart failure,...	ORPHA:137675
Pyruvate Carboxylase Deficiency	Abnormal temper tantrums, Recurrent hand flapping, Anorexia, Compulsive behaviors, Dehydration	ORPHA:3008
Mpdu1-Cdg	Ichthyosis, Abnormal circulating enzyme concentration or activity, Eczematoid dermatitis, Elevate...	ORPHA:79323
Yao Syndrome	Uveitis, Inflammatory abnormality of the skin, Skin rash, Keratoconjunctivitis sicca, Weight loss...	OMIM:617321
Mgat2-Cdg	Decreased circulating IgG level, Decreased lymphocyte proliferation in response to mitogen, Failu...	ORPHA:79329
Focal Dermal Hypoplasia	Erythema, Telangiectasia of the skin, Thin skin	ORPHA:2092
Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic	Hepatic failure, Increased hepatic echogenicity, Hepatic steatosis, Low plasma citrulline, Elevat...	OMIM:261680
Homocystinuria Due To Cystathionine Beta-Synthase Deficiency	Gastrointestinal hemorrhage, Elevated circulating hepatic transaminase concentration, Pulmonary e...	ORPHA:394
Arthrogryposis And Ectodermal Dysplasia	Dry skin, Ectodermal dysplasia	OMIM:601701
Ectodermal Dysplasia-Blindness Syndrome	Hyperkeratosis, Skin ulcer	ORPHA:1806
Nephrogenic Diabetes Insipidus	Hypernatremic dehydration, Polydipsia, Polyhydramnios, Anorexia	ORPHA:223
Adult-Onset Nemaline Myopathy	Paraproteinemia, Mildly elevated creatine kinase	ORPHA:171442
Gm1 Gangliosidosis Type 1	Thickened skin, Hepatosplenomegaly, Decreased beta-galactosidase activity, Aspiration pneumonia	ORPHA:79255
Chikungunya	Facial edema, Erythema, Petechiae, Joint swelling, Skin vesicle, Cutaneous photosensitivity, Peda...	ORPHA:324625
Reactive Arthritis	Inflammation of the large intestine, Osteomyelitis, Recurrent aphthous stomatitis, Abnormal pleur...	ORPHA:29207
Shwachman-Diamond Syndrome 2	Normocytic anemia, Failure to thrive, Exocrine pancreatic insufficiency, Hyperechogenic pancreas,...	OMIM:617941
Oculopharyngodistal Myopathy	Recurrent aspiration pneumonia, Weight loss	ORPHA:98897
Helix Syndrome	Dry skin	OMIM:617671
Combined Oxidative Phosphorylation Deficiency 19	Elevated gamma-glutamyltransferase level, Failure to thrive, Elevated circulating aspartate amino...	OMIM:615595
Hurler-Scheie Syndrome	Hepatomegaly, Thickened skin, Recurrent respiratory infections, Splenomegaly	OMIM:607015
Familial Tumoral Calcinosis	Erythema	ORPHA:53715
Cockayne Syndrome Type 3	Astrocytosis, Elevated circulating hepatic transaminase concentration	ORPHA:90324
Autosomal Recessive Polycystic Kidney Disease	Elevated gamma-glutamyltransferase level, Cholestasis, Hepatosplenomegaly, Hypersplenism, Congeni...	ORPHA:731
Dend Syndrome	Dehydration	ORPHA:79134
Mitochondrial Complex Iv Deficiency, Nuclear Type 1	Pigmentary retinopathy, Failure to thrive, Decreased liver function, Hepatomegaly, Anemia, Increa...	OMIM:220110
Mucopolysaccharidosis, Type Vi	Pneumonia, Reduced leukocyte arylsulfatase B activity, Thickened skin, Recurrent upper respirator...	OMIM:253200
Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease	Elevated gamma-glutamyltransferase level, Elevated circulating creatinine concentration, Hepatic ...	OMIM:613095
Oligomeganephronia	Polydipsia, Dehydration	ORPHA:2260
Pachyonychia Congenita	Palmoplantar keratoderma, Failure to thrive, Linear arrays of macular hyperkeratoses in flexural ...	ORPHA:2309
Dyskeratosis Congenita, Digenic	Decreased circulating IgG level, Failure to thrive, Decreased circulating IgA level, Decreased ci...	OMIM:620040
Immunodeficiency 27B	Osteomyelitis, Generalized lymphadenopathy, Salmonella osteomyelitis	OMIM:615978
Overlap Myositis	Elevated circulating hepatic transaminase concentration, Leukopenia, Pulmonary arterial hypertens...	ORPHA:206572
Cystic Fibrosis	Recurrent pneumonia, Biliary cirrhosis, Failure to thrive, Exocrine pancreatic insufficiency, Hep...	OMIM:219700
Inflammatory Bowel Disease 28, Autosomal Recessive	Folliculitis, Pyoderma, Crohn's disease, Perianal abscess, Enterocolitis, Colitis	OMIM:613148
Necrotizing Enterocolitis	Thrombocytopenia, Leukocytosis, Cyanosis, Neutropenia	ORPHA:391673
Growth Hormone Insensitivity Syndrome With Immune Dysregulation 2, Autosomal Dominant	Increased circulating IgE level, Eczematoid dermatitis, Thyroiditis	OMIM:618985
Peroxisome Biogenesis Disorder 5A (Zellweger)	Elevated gamma-glutamyltransferase level, Pigmentary retinopathy, Increased circulating very long...	OMIM:614866
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency	Pneumonia, Failure to thrive, Hyponatremia, Decreased circulating cortisol level, Hyperpigmentati...	ORPHA:90790
Ciliary Dyskinesia, Primary, 42	Pneumonia, Bronchiectasis, Recurrent sinusitis, Chronic rhinitis	OMIM:618695
Dyskeratosis Congenita, Autosomal Dominant 3	Dry skin, Premature graying of hair	OMIM:613990
Rothmund-Thomson Syndrome Type 1	Facial edema, Porokeratosis, Telangiectasia, Attention deficit hyperactivity disorder, Facial ery...	ORPHA:221008
Behçet Disease	Recurrent aphthous stomatitis, Pleuritis, Pleural effusion, Splenomegaly, Infectious encephalitis...	ORPHA:117
Ulnar Agenesis And Endocardial Fibroelastosis	Neonatal death	OMIM:276822
Cockayne Syndrome B	Progeroid facial appearance, Dry skin, Death in childhood, Reduced subcutaneous adipose tissue, P...	OMIM:133540
Alpha-2-Plasmin Inhibitor Deficiency	Joint hemorrhage, Hemothorax	OMIM:262850
Osteopetrosis With Renal Tubular Acidosis	Bone marrow hypocellularity, Failure to thrive, Pancytopenia, Leukopenia, Abnormal circulating en...	ORPHA:2785
Erythema Elevatum Diutinum	Skin rash, Increased circulating antibody level	ORPHA:90000
Eosinophilic Granulomatosis With Polyangiitis	Hypopigmented skin patches, Abnormal pleura morphology, Skin rash, Increased inflammatory respons...	ORPHA:183
Poliomyelitis	Inability to walk, Anorexia, Dysphagia, Agitation, Diminished movement	ORPHA:2912
Ciliary Dyskinesia, Primary, 53	Abdominal situs inversus, Pulmonary arterial hypertension, Hypoplastic spleen, Polysplenia	OMIM:620642
Retinitis Pigmentosa And Erythrocytic Microcytosis	Decreased circulating iron concentration, Leukopenia, Elliptocytosis, Anisocytosis, Bone spicule ...	OMIM:616959
Trichothiodystrophy	Dry skin, Prematurely aged appearance, Cutaneous photosensitivity	ORPHA:33364
Ileal Neuroendocrine Tumor	Hepatic failure, Elevated circulating hepatic transaminase concentration, Iron deficiency anemia,...	ORPHA:100078
Dysbetalipoproteinemia	Decreased HDL cholesterol concentration, Increased LDL cholesterol concentration, Xanthelasma, Go...	ORPHA:412
Thrombocytopenia 1	Decreased mean platelet volume, Eczematoid dermatitis, Increased circulating IgE level, Increased...	OMIM:313900
Behcet Syndrome	Erythema	OMIM:109650
21Q22.11Q22.12 Microdeletion Syndrome	Dry skin	ORPHA:261323
Monilethrix	Perifollicular hyperkeratosis	OMIM:158000
Parkinson Disease 2, Autosomal Recessive Juvenile	Shuffling gait, Hypokinesia, Gait ataxia, Loss of ambulation, Gait disturbance	OMIM:600116
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form	Elevated circulating acylcarnitine concentration, Hepatic failure, Decreased plasma free carnitin...	ORPHA:228308
Koolen-De Vries Syndrome	Dry skin	OMIM:610443
Atopic Keratoconjunctivitis	Dry skin	ORPHA:163934
Microcephalic Osteodysplastic Primordial Dwarfism Type Ii	Dry skin	ORPHA:2637
Restrictive Dermopathy 2	Cyanosis	OMIM:619793
Ectodermal Dysplasia 12, Hypohidrotic/Hair/Tooth/Nail Type	Orthokeratosis, Subungual hyperkeratosis, Acne inversa, Eczematoid dermatitis	OMIM:617337
Cockayne Syndrome	Cutaneous photosensitivity, Reduced subcutaneous adipose tissue, Premature skin wrinkling	ORPHA:191
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type)	Elevated gamma-glutamyltransferase level, Hepatic failure, Micronodular cirrhosis, Failure to thr...	OMIM:256810
Idiopathic Steroid-Resistant Nephrotic Syndrome	Peritonitis, Pulmonary embolism	ORPHA:567548
Familial Papillary Or Follicular Thyroid Carcinoma	Chronic noninfectious lymphadenopathy, Abnormal lymph node morphology	ORPHA:319487
Severe Congenital Nemaline Myopathy	Dysphagia, Hypokinesia	ORPHA:171430
Pediatric Hepatocellular Carcinoma	Hepatic fibrosis, Hepatic necrosis, Portal vein thrombosis, Hepatomegaly, Elevated circulating al...	ORPHA:33402
Congenital Analbuminemia	Hypoalbuminemia, Obesity, Hyperlipidemia, Increased circulating antibody level, Hypercholesterole...	ORPHA:86816
Familial Papillary Thyroid Carcinoma With Renal Papillary Neoplasia	Chronic noninfectious lymphadenopathy, Abnormal lymph node morphology	ORPHA:97290
Idiopathic Pulmonary Fibrosis	Orthodeoxia, Acrocyanosis	ORPHA:2032
Mitochondrial Complex Ii Deficiency, Nuclear Type 3	Hepatomegaly, Neonatal death, Left ventricular hypertrophy, Aspiration pneumonia	OMIM:619167
Acyl-Coa Dehydrogenase, Medium-Chain, Deficiency Of	Elevated circulating hepatic transaminase concentration, Decreased circulating carnitine concentr...	OMIM:201450
Primary Pulmonary Hypoplasia	Hypoxemia, Cyanosis	ORPHA:2257
Interatrial Communication	Atrial flutter, Congestive heart failure, Palpitations, Right axis deviation, Pulmonary arterial ...	ORPHA:1478
Neuroendocrine Tumor Of The Colon	Hepatomegaly, Elevated circulating hepatic transaminase concentration, Chronic noninfectious lymp...	ORPHA:100080
Monilethrix	Follicular hyperkeratosis	ORPHA:573
Fabry Disease	Abnormal circulating lipid concentration, Emphysema, Hyperlipidemia, Left ventricular hypertrophy...	ORPHA:324
Wiedemann-Rautenstrauch Syndrome	Increased subcutaneous truncal adipose tissue, Progeroid facial appearance, Premature skin wrinkl...	ORPHA:3455
Noonan Syndrome 10	Webbed neck, Increased nuchal translucency, Pleural effusion, Palmoplantar cutis laxa, Hyperkerat...	OMIM:616564
Aromatic L-Amino Acid Decarboxylase Deficiency	Athetosis, Tongue thrusting, Choreoathetosis, Diminished movement	OMIM:608643
Pachyonychia Congenita 3	Follicular hyperkeratosis, Palmoplantar keratoderma, Plantar hyperkeratosis, Palmar hyperkeratosis	OMIM:615726
Antisynthetase Syndrome	Skin rash, Elevated circulating creatine kinase concentration, Myositis, Keratoconjunctivitis sic...	ORPHA:81
Hereditary Mucoepithelial Dysplasia	Recurrent respiratory infections, Pulmonary fibrosis, Hyperkeratosis	ORPHA:1839
Ciliary Dyskinesia, Primary, 35	Recurrent pneumonia, Abdominal situs ambiguus, Chronic sinusitis, Chronic rhinitis, Chronic otiti...	OMIM:617092
Short Syndrome	Excessive wrinkled skin	ORPHA:3163
Spinocerebellar Ataxia 34	Erythroderma, Epidermal hyperkeratosis	OMIM:133190
Degcags Syndrome	Pneumonia, Hypopigmentation of the skin, Small for gestational age, Failure to thrive, Premature ...	OMIM:619488
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum	Pneumonia, Inflammatory abnormality of the skin, Keratitis, Elevated circulating hepatic transami...	ORPHA:95455
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy	Decreased HDL cholesterol concentration, Premature graying of hair, Hepatic steatosis, Splenomega...	ORPHA:280365
Intellectual Developmental Disorder, X-Linked, Syndromic, Chudley-Schwartz Type	Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level	OMIM:300861
Thrombocytopenia 11 With Multiple Congenital Anomalies And Dysmorphic Facies	Dry skin	OMIM:620654
Glycogen Storage Disease Ic	Inflammation of the large intestine, Recurrent upper respiratory tract infections, Cyclic neutrop...	OMIM:232240
Rabson-Mendenhall Syndrome	Dry skin, Reduced subcutaneous adipose tissue, Premature graying of hair	ORPHA:769
Linear Skin Defects With Multiple Congenital Anomalies 2	Pulmonary arterial hypertension	OMIM:300887
Mitochondrial Complex Iv Deficiency, Nuclear Type 15	Pulmonary arterial hypertension	OMIM:619059
Immunodeficiency 35	Increased circulating IgE level, Recurrent respiratory infections	OMIM:611521
Lipe-Related Familial Partial Lipodystrophy	Hepatic steatosis, Elevated circulating creatine kinase concentration, Acanthosis nigricans, Hype...	ORPHA:435660
Fanconi-Bickel Syndrome	Hypouricemia, Intrahepatic cholestasis, Elevated gamma-glutamyltransferase level, Failure to thri...	OMIM:227810
Tracheobronchopathia Osteochondroplastica	Pneumonia, Recurrent pneumonia, Bronchitis, Atelectasis, Esophagitis, Recurrent respiratory infec...	ORPHA:3348
Rajab Interstitial Lung Disease With Brain Calcifications 1	Hypoalbuminemia, Elevated circulating hepatic transaminase concentration, Small for gestational a...	OMIM:613658
Neurodevelopmental Disorder With Dysmorphic Facies And Cerebellar Hypoplasia	Dry skin	OMIM:619306
Immune Deficiency, Familial Variable	Decreased circulating IgG level, Decreased circulating IgA level	OMIM:146830
Idiopathic Aplastic Anemia	Bone marrow hypocellularity, Pancytopenia, Reticulocytopenia, Neutropenia, Thrombocytopenia, Anemia	ORPHA:88
Leprechaunism	Thickened skin, Failure to thrive, Hyperaldosteronism, Decreased body weight, Hypokalemia, Enlarg...	ORPHA:508
Eisenmenger Syndrome	Abnormal circulating B-type natriuretic peptide concentration, Elevated jugular venous pressure, ...	ORPHA:97214
Pyruvate Dehydrogenase E1-Alpha Deficiency	Recurrent aspiration pneumonia, Increased serum pyruvate, Small for gestational age	ORPHA:79243
Schimke Immuno-Osseous Dysplasia	Bone marrow hypocellularity, Abnormal proportion of naive CD4 T cells, Congestive heart failure, ...	ORPHA:1830
Neuropathy, Hereditary Sensory And Autonomic, Type Vi	Erythema	OMIM:614653
Methylmalonic Acidemia With Homocystinuria, Type Cblc	Jaundice, Hydrops fetalis, Dehydration	ORPHA:79282
Cockayne Syndrome A	Progeroid facial appearance, Dry skin, Reduced subcutaneous adipose tissue, Prematurely aged appe...	OMIM:216400
Anemia, Congenital Dyserythropoietic, Type Iiia	Increased circulating lactate dehydrogenase concentration, Macrocytic anemia, Anemia of inadequat...	OMIM:105600
Isolated Thyroid-Stimulating Hormone Deficiency	Prolonged neonatal jaundice, Dry skin	ORPHA:90674
Acrocephalopolydactylous Dysplasia	Hepatic fibrosis, Thickened skin, Polysplenia, Ascites, Pancreatic fibrosis, Hepatomegaly, Extrap...	OMIM:200995
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency	Dehydration	ORPHA:90791
Cardiomyopathy, Dilated, 1S	Dilated cardiomyopathy, Congestive heart failure, Tricuspid regurgitation, Reduced left ventricul...	OMIM:613426
Combined Oxidative Phosphorylation Defect Type 23	Cyanosis	ORPHA:444013
Diamond-Blackfan Anemia	Macrocytic dyserythropoietic anemia, Increased mean corpuscular volume, Persistence of hemoglobin...	ORPHA:124
Mitochondrial Complex Iv Deficiency, Nuclear Type 7	Hypertrophic cardiomyopathy, Tricuspid regurgitation, Pulmonary arterial hypertension	OMIM:619051
Surfactant Metabolism Dysfunction, Pulmonary, 2	Recurrent pneumonia, Intralobular septal thickening, Intraalveolar phospholipid accumulation, Fai...	OMIM:610913
Somatostatinoma	Intrahepatic cholestasis, Abnormal abdomen morphology, Increased circulating cortisol level, Asci...	ORPHA:97283
Sheehan Syndrome	Dry skin, Pallor	ORPHA:91355
Surfactant Metabolism Dysfunction, Pulmonary, 3	Hypoxemia, Cyanosis, Death in infancy, Neonatal death	OMIM:610921
Typical Nemaline Myopathy	Gait disturbance, Hypokinesia, Waddling gait	ORPHA:171436
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3	Microangiopathic hemolytic anemia, Elevated circulating creatinine concentration, Increased blood...	OMIM:612923
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2	Microangiopathic hemolytic anemia, Elevated circulating creatinine concentration, Increased blood...	OMIM:612922
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6	Microangiopathic hemolytic anemia, Elevated circulating creatinine concentration, Increased blood...	OMIM:612926
Squamous Cell Carcinoma Of The Anal Canal	Neoplasm of the liver, Lymphadenopathy, Neoplasm of the lung	ORPHA:424019
Multiple Mitochondrial Dysfunctions Syndrome 7	Cyanosis, Impulsivity, Hyperactivity, Thrombocytopenia, Agitation	OMIM:620423
Dubowitz Syndrome	Dry skin, Cutis marmorata, Cutaneous photosensitivity	ORPHA:235
Oculocerebrorenal Syndrome Of Lowe	Self-injurious behavior, Skin ulcer, Joint swelling, Attention deficit hyperactivity disorder, Co...	ORPHA:534
Lipodystrophy, Congenital Generalized, Type 1	Elevated circulating hepatic transaminase concentration, Hepatic steatosis, Splenomegaly, Cirrhos...	OMIM:608594
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies	Erythema, Fetal ascites, Dry skin, Stereotypical body rocking, Oligohydramnios, Bruxism, Reduced ...	OMIM:619503
Urachal Cyst	Erythema	ORPHA:488
Hallermann-Streiff Syndrome	Telangiectasia, Dry skin	OMIM:234100
Mandibuloacral Dysplasia With Type B Lipodystrophy	Prematurely aged appearance, Progeroid facial appearance, Thin skin	ORPHA:90154
Kaufman Oculocerebrofacial Syndrome	Hypocholesterolemia, Failure to thrive	OMIM:244450
Niemann-Pick Disease Type C	Hepatic failure, Fetal ascites, Aspiration pneumonia, Ascites, Hepatosplenomegaly, Abnormality of...	ORPHA:646
Thymic Neuroendocrine Tumor	Increased circulating cortisol level, Neoplasm of the thymus, Hypercalcemia, Chronic noninfectiou...	ORPHA:97289
Lathosterolosis	Intrahepatic cholestasis, Hepatic failure, Failure to thrive, Abnormal platelet morphology, Throm...	ORPHA:46059
Akt2-Related Familial Partial Lipodystrophy	Hepatomegaly, Acanthosis nigricans, Hepatic steatosis, Hypertriglyceridemia	ORPHA:79085
Chops Syndrome	Aspiration pneumonia, Obesity, Splenomegaly, Patent ductus arteriosus, Anomalous pulmonary venous...	OMIM:616368
Dopamine Beta-Hydroxylase Deficiency	Dehydration	ORPHA:230
Gastrointestinal Stromal Tumor	Anemia, Abnormality of the liver, Irregular hyperpigmentation, Skin rash	ORPHA:44890
Citrullinemia, Classic	Reduced tissue argininosuccinate synthetase activity, Failure to thrive, Hyperammonemia, Hyperglu...	OMIM:215700
Glycogen Storage Disease Ia	Elevated circulating hepatic transaminase concentration, Xanthelasma, Gout, Hyperlipidemia, Hyper...	OMIM:232200
Neuroendocrine Tumor Of The Rectum	Hepatomegaly, Elevated circulating hepatic transaminase concentration, Chronic noninfectious lymp...	ORPHA:100081
Neuroendocrine Tumor Of Anal Canal	Hepatomegaly, Elevated circulating hepatic transaminase concentration, Chronic noninfectious lymp...	ORPHA:100082
Infantile Nephropathic Cystinosis	Polydipsia, Dehydration	ORPHA:411629
Geleophysic Dysplasia 3	Pneumonia, Hepatomegaly, Thickened skin	OMIM:617809
Hutchinson-Gilford Progeria Syndrome	Premature skin wrinkling, Generalized abnormality of skin, Cyanosis, Lack of skin elasticity, Pro...	ORPHA:740
Fallot Complex-Intellectual Disability-Growth Delay Syndrome	Cyanosis	ORPHA:3304
Erdheim-Chester Disease	Osteomyelitis, Xanthelasma, Pleural effusion, Skin rash, Weight loss, Anemia, Abnormal pulmonary ...	ORPHA:35687
Hyper-Ige Syndrome 1, Autosomal Dominant, With Recurrent Infections	Recurrent pneumonia, Pulmonary cyst, Recurrent upper respiratory tract infections, Eczematoid der...	OMIM:147060
Congenitally Uncorrected Transposition Of The Great Arteries	Cyanosis, Hypoxemia	ORPHA:860
Nijmegen Breakage Syndrome	Recurrent pneumonia, Progressive vitiligo, Retinal pigment epithelial mottling, Recurrent otitis ...	OMIM:251260
Telangiectasia, Hereditary Hemorrhagic, Type 2	Nasal mucosa telangiectasia, Cirrhosis, Polycythemia, Facial telangiectasia, Cerebral hemorrhage,...	OMIM:600376
Tyrosinemia Type 2	Palmoplantar keratoderma, Hyperkeratosis	ORPHA:28378
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young	Hypouricemia, Elevated circulating hepatic transaminase concentration, Large for gestational age,...	OMIM:616026
Paroxysmal Nocturnal Hemoglobinuria	Pulmonary embolism, Increased circulating lactate dehydrogenase concentration, Budd-Chiari syndro...	ORPHA:447
Igg4-Related Retroperitoneal Fibrosis	Normocytic anemia, Rheumatoid arthritis, Elevated circulating creatinine concentration, Psoriasif...	ORPHA:49041
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Dominant	Keratitis, Ichthyosis, Keratoconjunctivitis sicca, Hyperkeratosis, Recurrent bacterial skin infec...	OMIM:148210
Melas	Erythema	ORPHA:550
Ifap Syndrome 1, With Or Without Bresheck Syndrome	Ichthyosis follicularis, Subungual hyperkeratosis, Hydromyelia, Dry skin, Oligohydramnios, Neonat...	OMIM:308205
Autoerythrocyte Sensitization Syndrome	Impaired platelet adhesion, Abnormal erythrocyte morphology, Superficial dermal perivascular infl...	ORPHA:324636
Alpha-Thalassemia	Reduced alpha/beta synthesis ratio, Hypochromic microcytic anemia	OMIM:604131
Beta-Thalassemia	Reduced beta/alpha synthesis ratio, Hypochromic microcytic anemia	OMIM:613985
Myoectodermal Gonadal Dysgenesis Syndrome	Dry skin, Scaling skin	OMIM:618419
Say-Barber-Miller Syndrome	Decreased circulating IgG level, Eczematoid dermatitis, Decreased circulating antibody level, Tra...	ORPHA:3132
Thyroid Ectopia	Dry skin, Jaundice	ORPHA:95712
Ectodermal Dysplasia And Immunodeficiency 2	Dry skin, Anhidrotic ectodermal dysplasia	OMIM:612132
Autosomal Recessive Cerebellar Ataxia Due To Stub1 Deficiency	Dysphagia, Progeroid facial appearance	ORPHA:412057
Intellectual Developmental Disorder With Persistence Of Fetal Hemoglobin	Persistence of hemoglobin F	OMIM:617101
Ramon Syndrome	Telangiectasia, Angiokeratoma, Hyperkeratosis	OMIM:266270
Ectodermal Dysplasia 10B, Hypohidrotic/Hair/Tooth Type, Autosomal Recessive	Hypohidrotic ectodermal dysplasia, Periorbital wrinkles	OMIM:224900
Noonan Syndrome With Multiple Lentigines	Webbed neck, Excessive wrinkled skin	ORPHA:500
Alström Syndrome	Elevated gamma-glutamyltransferase level, Hepatosplenomegaly, Hepatic steatosis, Cirrhosis, Glome...	ORPHA:64
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency	White hair, Lymphopenia, Agammaglobulinemia, Anemia, Recurrent respiratory infections, Abnormalit...	ORPHA:935
Myopathy, Centronuclear, X-Linked	Hypokinesia	OMIM:310400
Foxp1 Syndrome	Pulmonary arterial hypertension	ORPHA:391372
Limb-Mammary Syndrome	Dry skin, Psoriasiform dermatitis	ORPHA:69085
Ossification Anomalies-Psychomotor Developmental Delay Syndrome	Hepatomegaly, Recurrent aspiration pneumonia, Elevated circulating hepatic transaminase concentra...	ORPHA:73230
Phoar2-Enteropathy Syndrome	Hypoalbuminemia, Thickened skin, Seborrheic dermatitis, Acne	OMIM:614441
Alpha-Mannosidosis, Infantile Form	Pneumonia, Hepatosplenomegaly, Pancytopenia, Abnormal circulating enzyme concentration or activit...	ORPHA:309282
Autosomal Dominant Hypocalcemia	Dry skin	ORPHA:428
Intellectual Developmental Disorder, Autosomal Dominant 54	Dry skin	OMIM:617799
Mandibuloacral Dysplasia With Type B Lipodystrophy	Prominent superficial veins, Decreased adipose tissue around neck, Death in early adulthood, Prog...	OMIM:608612
Hidrotic Ectodermal Dysplasia, Halal Type	Follicular hyperkeratosis	ORPHA:1809
Neutral Lipid Storage Myopathy	Elevated circulating hepatic transaminase concentration, Increased circulating lactate dehydrogen...	ORPHA:98908
Transketolase Deficiency	Elevated circulating ribitol concentration, Seborrheic dermatitis, Hepatomegaly, Conjunctivitis, ...	ORPHA:488618
Hereditary Bullous Dystrophy, Macular Type	Pneumonia, Hyperpigmentation of the skin, Spotty hypopigmentation	ORPHA:1867
Kasabach-Merritt Phenomenon	Microangiopathic hemolytic anemia, Leukopenia, Reticulocytosis, Abnormal lymphatic vessel morphol...	ORPHA:2330
Aortic Arch Interruption	Aortic regurgitation, Congestive heart failure, Tricuspid regurgitation, Shock, Blood pressure su...	ORPHA:2299
Dementia, Lewy Body	Lewy bodies	OMIM:127750
Noonan Syndrome-Like Disorder With Loose Anagen Hair 1	Eczematoid dermatitis, Failure to thrive, Multiple lentigines, Large for gestational age, Ichthyo...	OMIM:607721
Meconium Aspiration Syndrome	Pulmonary insufficiency, Pulmonary arterial hypertension, Abnormal heart rate variability	ORPHA:70588
Progeria-Short Stature-Pigmented Nevi Syndrome	Prematurely aged appearance, Lack of facial subcutaneous fat, Progeroid facial appearance	ORPHA:2959
Orofaciodigital Syndrome Viii	Recurrent aspiration pneumonia	OMIM:300484
Amoebiasis Due To Free-Living Amoebae	Pneumonia, Increased red blood cell count, Unusual skin infection, Granuloma, Respiratory tract i...	ORPHA:68
Schimke Immunoosseous Dysplasia	Lymphopenia, Pancytopenia, Abnormal T cell morphology, Transient ischemic attack, Cerebral ischem...	OMIM:242900
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome	Pancytopenia, Leukopenia, Pulmonary arterial hypertension, Thrombocytopenia, Anemia	OMIM:613845
Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome	Anemia, Abnormal hemoglobin, Infectious encephalitis	ORPHA:847
Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Impaired Intellectual Development, And Ear Anomalies Syndrome	Webbed neck, Dry skin	OMIM:280000
Viss Syndrome	Atopic dermatitis, Pulmonary artery aneurysm, Eczematoid dermatitis, Failure to thrive, Increased...	OMIM:619472
Classic Pantothenate Kinase-Associated Neurodegeneration	Pigmentary retinopathy, Weight loss, Aspiration pneumonia	ORPHA:216866
Colchicine Poisoning	Dehydration	ORPHA:31824
Complement Factor I Deficiency	Decreased circulating complement factor B concentration, Recurrent otitis media, Decreased circul...	OMIM:610984
Tetrasomy 5P	Cyanosis	ORPHA:3309
Leprosy	Abnormality of the spleen, Abnormality of the liver, Hyperkeratosis, Iritis, Uveitis	ORPHA:548
Autoimmune Pulmonary Alveolar Proteinosis	Hypoxemia, Cyanosis	ORPHA:747
Kagami-Ogata Syndrome	Hepatomegaly, Pulmonary arterial hypertension, Splenomegaly, Pulmonic stenosis	OMIM:608149
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 3	Bruxism, Reduced subcutaneous adipose tissue, Excessive wrinkled skin, Self-mutilation, Stereotyp...	OMIM:619950
Distal Renal Tubular Acidosis	Polydipsia, Dehydration	ORPHA:18
Marbach-Rustad Progeroid Syndrome	Pulmonary insufficiency, Right bundle branch block	OMIM:619322
Digeorge Syndrome	Recurrent pneumonia, Cholelithiasis, Impaired T cell function, Atelectasis, Recurrent otitis medi...	OMIM:188400
Bethlem Muscular Dystrophy	Hyperkeratosis, Elevated circulating creatine kinase concentration	ORPHA:610
Mucopolysaccharidosis Type 3	Pigmentary retinopathy, Recurrent tonsillitis, Aspiration pneumonia, Adenoiditis, Otitis media, S...	ORPHA:581
Melkersson-Rosenthal Syndrome	Inflammatory abnormality of the skin, Cheilitis, Lymphadenopathy	ORPHA:2483
Anaplastic Thyroid Carcinoma	Weight loss, Lymphadenopathy, Neoplasm of the lung	ORPHA:142
Adams-Oliver Syndrome	Gastrointestinal hemorrhage, Leukopenia, Portal hypertension, Congenital hepatic fibrosis, Cirrho...	ORPHA:974
Bartter Syndrome, Type 3	Dehydration	OMIM:607364
Lassa Fever	Conjunctivitis, Jaundice, Increased circulating IgM level	ORPHA:99824
Telangiectasia, Hereditary Hemorrhagic, Type 1	Pulmonary hemorrhage, Nasal mucosa telangiectasia, High-output congestive heart failure, Telangie...	OMIM:187300
Pancreatoblastoma	Pancreatic calcification, Jaundice, Weight loss, Abnormal lymph node morphology	ORPHA:677
Short Stature, Hearing Loss, Retinitis Pigmentosa, And Distinctive Facies	Progeroid facial appearance	OMIM:617763
Carney Triad	Anemia, Mediastinal lymphadenopathy, Lymphadenopathy, Ascites	ORPHA:139411
Japanese Encephalitis	Increased circulating antibody level, Hyponatremia, Infectious encephalitis, Pulmonary edema, Neu...	ORPHA:79139
Ciliary Dyskinesia, Primary, 43	Recurrent upper respiratory tract infections, Abdominal situs inversus, Chronic sinusitis, Chroni...	OMIM:618699
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome	Epistaxis, Second degree atrioventricular block, Pulmonary arterial hypertension, Intracranial he...	ORPHA:369929
48,Xxxy Syndrome	Pulmonary embolism	ORPHA:96263
Waardenburg Syndrome Type 3	Acrocyanosis	ORPHA:896
Menkes Disease	Prolonged neonatal jaundice, Dry skin, Spontaneous hematomas	ORPHA:565
Oculocutaneous Albinism Type 1A	Thickened skin, Hyperkeratosis	ORPHA:79431
Occipital Horn Syndrome	Cholestasis, Jaundice, Esophagitis, Hepatitis	ORPHA:198
X-Linked Intellectual Disability, Nascimento Type	Dry skin	ORPHA:163956
Juvenile Nephropathic Cystinosis	Polydipsia, Dehydration	ORPHA:411634
Microcephaly-Lymphedema-Chorioretinopathy Syndrome	Dry skin, Skin ulcer, Scaling skin	ORPHA:2526
Eec Syndrome	Keratitis, Hypoplasia of the thymus, Generalized hypopigmentation, Inflammatory abnormality of th...	ORPHA:1896
Severe Generalized Junctional Epidermolysis Bullosa	Pneumonia, Failure to thrive, Pyoderma, Pneumothorax, Gastrointestinal inflammation, Anemia, Abno...	ORPHA:79404
49,Xxxxy Syndrome	Pulmonary embolism	ORPHA:96264
Argininosuccinic Aciduria	Hepatic fibrosis, Failure to thrive, Elevated circulating aspartate aminotransferase concentratio...	OMIM:207900
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 9	Cyanosis, Death in childhood, Death in infancy, Ataxia	OMIM:618426
Hyperekplexia 1	Hypokinesia	OMIM:149400
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type	Hyperkeratosis	ORPHA:163966
Hajdu-Cheney Syndrome	Dry skin, Skin ulcer	ORPHA:955
Cushing Syndrome Due To Ectopic Acth Secretion	Small cell lung carcinoma, Increased circulating cortisol level, Abnormal lymph node morphology, ...	ORPHA:99889
Inflammatory Bowel Disease 25, Autosomal Recessive	Folliculitis, Recurrent bronchitis, Pancolitis, Perianal abscess, Enterocolitis	OMIM:612567
O'Sullivan-Mcleod Syndrome	Eosinophilia, Increased circulating antibody level	ORPHA:99965
Cogan Syndrome	Keratitis, Episcleritis, Leukocytosis, Scleritis, Anemia, Thrombocytosis, Inflammatory abnormalit...	ORPHA:1467
Chand Syndrome	Dry skin	ORPHA:1401
Acute Adrenal Insufficiency	Dry skin	ORPHA:95409
Arterial Tortuosity Syndrome	Bruising susceptibility, Progeroid facial appearance, Cutis laxa, Telangiectases of the cheeks, T...	OMIM:208050
Mohr-Tranebjaerg Syndrome	Agammaglobulinemia, Aspiration pneumonia	ORPHA:52368
Alopecia-Contractures-Dwarfism-Intellectual Disability Syndrome	Hyperkeratosis, Ichthyosis	ORPHA:1005
Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease	Increased circulating cortisol level, Hyperaldosteronism, Hyperlipidemia, Hepatic steatosis, Incr...	ORPHA:189427
Punctate Palmoplantar Keratoderma Type 1	Hyperkeratotic papule, Orthokeratosis, Palmoplantar keratoderma, Hypergranulosis, Palmoplantar hy...	ORPHA:79501
Lipodystrophy, Familial Partial, Type 2	Decreased HDL cholesterol concentration, Hepatic steatosis, Acanthosis nigricans, Hypercholestero...	OMIM:151660
Ethylene Glycol Poisoning	Addictive alcohol use, Cyanosis, Ataxia	ORPHA:31826
Pulmonary Alveolar Microlithiasis	Bronchitis, Interlobular septal thickening, Subpleural interstitial thickening, Respiratory tract...	ORPHA:60025
Congenital Alveolar Capillary Dysplasia	Aortic valve stenosis, Annular pancreas, Absent gallbladder, Pulmonary arterial hypertension, Asp...	ORPHA:210122
Infantile Neuroaxonal Dystrophy	Increased circulating lactate dehydrogenase concentration, Aspiration pneumonia	ORPHA:35069
Camurati-Engelmann Disease	Slender build, Leukopenia, Splenomegaly, Hepatomegaly, Elevated circulating aldolase concentratio...	ORPHA:1328
Thyroid Lymphoma	Hashimoto thyroiditis, Lymphadenopathy	ORPHA:97285
Wrinkly Skin Syndrome	Palmoplantar cutis laxa, Redundant skin, Progeroid facial appearance, Neonatal wrinkled skin of h...	OMIM:278250
Diamond-Blackfan Anemia 1	Increased mean corpuscular volume, Failure to thrive, Persistence of hemoglobin F, Elevated red c...	OMIM:105650
Gaucher Disease, Type Iiic	Cardiomegaly, Hepatomegaly, Pancytopenia, Splenomegaly	OMIM:231005
Congenitally Corrected Transposition Of The Great Arteries	Arrhythmia, Heart block, Aortic regurgitation, Third degree atrioventricular block, Tricuspid reg...	ORPHA:216694
Grfoma	Intrahepatic cholestasis, Cholelithiasis, Abnormal abdomen morphology, Increased circulating cort...	ORPHA:97261
Aicardi-Goutières Syndrome	Prolonged neonatal jaundice, Dry skin, Cutis marmorata, Acrocyanosis	ORPHA:51
Noonan Syndrome 2	Webbed neck, Increased nuchal translucency, Redundant neck skin, Nonimmune hydrops fetalis, Palmo...	OMIM:605275
Carnitine-Acylcarnitine Translocase Deficiency	Cyanosis	ORPHA:159
Gapo Syndrome	Palpebral edema, Prematurely aged appearance	ORPHA:2067
Sympathetic Ophthalmia	Erythema, Macular edema	ORPHA:79098
Marfanoid-Progeroid-Lipodystrophy Syndrome	Oligohydramnios, Bruising susceptibility, Reduced subcutaneous adipose tissue, Progeroid facial a...	OMIM:616914
Arterial Tortuosity Syndrome	Telangiectasia of the skin, Prematurely aged appearance, Redundant skin, Thin skin	ORPHA:3342
Braddock Syndrome	Pulmonary arterial hypertension	ORPHA:52047
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 3	Pneumonia	OMIM:608033
Scalp-Ear-Nipple Syndrome	Dry skin, Cutaneous photosensitivity	OMIM:181270
Vici Syndrome	Decreased circulating IgG level, Hypopigmentation of the skin, Decreased circulating IgG2 level, ...	ORPHA:1493
Double Outlet Right Ventricle	Cyanosis	ORPHA:3426
Heart Block, Congenital	Atrioventricular block, Cardiomyopathy, Absent atrioventricular node, Mitral regurgitation, Atria...	OMIM:234700
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome	Bacterial endocarditis, Cholelithiasis, Hepatic fibrosis, Abnormality of the spleen, Hepatospleno...	ORPHA:2072
Neurodevelopmental Disorder With Brain Anomalies, Seizures, And Scoliosis	Right bundle branch block	OMIM:618590
Cystinosis, Nephropathic	Polydipsia, Dysphagia, Dehydration	OMIM:219800
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome	Erythema, Hyperkeratosis, Urticaria	ORPHA:2273
Congenital Tracheomalacia	Pneumonia, Abnormal pulmonary artery morphology, Recurrent upper respiratory tract infections, Br...	ORPHA:95430
46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency	Dehydration	ORPHA:168558
Mitochondrial Complex I Deficiency, Nuclear Type 1	Cyanosis, Splenomegaly, Death in infancy, Ataxia	OMIM:252010
Bartsocas-Papas Syndrome 1	Dry skin	OMIM:263650
Myasthenic Syndrome, Congenital, 21, Presynaptic	Difficulty walking, Cyanosis	OMIM:617239
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency	Dehydration	ORPHA:289548
Congenital Multicore Myopathy With External Ophthalmoplegia	Pneumonia, Recurrent respiratory infections	ORPHA:98905
Roifman-Chitayat Syndrome	Pneumonia, Arthritis	OMIM:613328
Zollinger-Ellison Syndrome	Erythema, Jaundice	ORPHA:913
Keutel Syndrome	Pulmonary arterial hypertension	ORPHA:85202
Chromosome Xp11.3 Deletion Syndrome	Progeroid facial appearance	OMIM:300578
Shiga Toxin-Associated Hemolytic Uremic Syndrome	Dehydration	ORPHA:90038
Atypical Werner Syndrome	Subcutaneous calcification, Skin ulcer, Progeroid facial appearance, Premature graying of hair, L...	ORPHA:79474
Cystic Fibrosis	Elevated circulating hepatic transaminase concentration, Decreased body mass index, Failure to th...	ORPHA:586
19P13.3 Microduplication Syndrome	Pulmonary arterial hypertension	ORPHA:447980
Paternal Uniparental Disomy Of Chromosome 6	Oligohydramnios, Dehydration	ORPHA:96191
Geleophysic Dysplasia 2	Aortic valve stenosis, Mitral regurgitation, Mitral stenosis, Pulmonary arterial hypertension, He...	OMIM:614185
Ectodermal Dysplasia-Skin Fragility Syndrome	Recurrent pneumonia, Palmoplantar keratoderma, Failure to thrive, Chapped lip, Recurrent skin inf...	ORPHA:158668
Microcephalic Osteodysplastic Primordial Dwarfism, Type I	Dry skin, Death in childhood, Death in infancy, Stillbirth, Prolonged neonatal jaundice	OMIM:210710
Structural Heart Defects And Renal Anomalies Syndrome	Cyanosis, Death in infancy	OMIM:617478
Criss-Cross Heart	Cyanosis	ORPHA:1461
Tarp Syndrome	Broad-based gait, Cyanosis, Extramedullary hematopoiesis	ORPHA:2886
Multiple Endocrine Neoplasia Type 4	Erythema, Subcutaneous lipoma	ORPHA:276152
Orofaciodigital Syndrome Type 1	Dry skin	ORPHA:2750
Isolated Permanent Neonatal Diabetes Mellitus	Dehydration	ORPHA:99885
Palmoplantar Hyperkeratosis With Squamous Cell Carcinoma Of Skin And 46,Xx Sex Reversal	Palmoplantar keratoderma, Orthokeratotic hyperkeratosis, Hypercholesterolemia, Hypertriglyceridem...	OMIM:610644
Bartter Syndrome, Type 2, Antenatal	Polyhydramnios, Polydipsia, Dehydration	OMIM:241200
Immunodeficiency 33	Decreased circulating total IgM, Increased circulating IgA level	OMIM:300636
Skeletal Dysplasia-Epilepsy-Short Stature Syndrome	Increased circulating IgE level	ORPHA:1858
Tay-Sachs Disease	Increased serum beta-hexosaminidase, Abnormal circulating enzyme concentration or activity, Aspir...	ORPHA:845
Biliary, Renal, Neurologic, And Skeletal Syndrome	Elevated gamma-glutamyltransferase level, Cholestasis, Hyperbilirubinemia, Congenital hepatic fib...	OMIM:619534
Koolen-De Vries Syndrome Due To A Point Mutation	Hypopigmentation of the skin, Fair hair, Eczematoid dermatitis, Recurrent otitis media, Slender b...	ORPHA:363965
17Q21.31 Microdeletion Syndrome	Hypopigmentation of the skin, Fair hair, Eczematoid dermatitis, Recurrent otitis media, Slender b...	ORPHA:363958
Hypothyroidism, Congenital, Nongoitrous, 2	Dry skin	OMIM:218700
Choreoacanthocytosis	Increased circulating lactate dehydrogenase concentration, Elevated circulating aspartate aminotr...	ORPHA:2388
Autosomal Dominant Progressive External Ophthalmoplegia	Hypokinesia, Gait ataxia, Gait disturbance, Ataxia, Dysphagia	ORPHA:254892
Cleft Velum	Recurrent otitis media, Aspiration pneumonia	ORPHA:99772
Mitochondrial Complex I Deficiency, Nuclear Type 37	Pulmonary arterial hypertension, Bradycardia	OMIM:619272
Saul-Wilson Syndrome	Prominent superficial veins, Progeroid facial appearance	OMIM:618150
Kallmann Syndrome-Heart Disease Syndrome	Cyanosis	ORPHA:2326
Diffuse Cutaneous Systemic Sclerosis	Telangiectasia of the skin, Hypertensive crisis, Pulmonary arterial hypertension, Congestive hear...	ORPHA:220393
Severe Acute Respiratory Syndrome	Acute infectious pneumonia	ORPHA:140896
Congenital Tricuspid Valve Dysplasia	Cyanosis, Hypoxemia	ORPHA:555874
Cockayne Syndrome Type 2	Progeroid facial appearance	ORPHA:90322
Proximal Renal Tubular Acidosis	Polydipsia, Dehydration	ORPHA:47159
Alkaptonuria	Irregular hyperpigmentation, Black pigment gallstones, Methemoglobinemia, Prostatitis, Osteoarthr...	ORPHA:56
Cornelia De Lange Syndrome 1	Pneumonia, Duplication of internal organs, Otitis media, Thrombocytopenia	OMIM:122470
Ectodermal Dysplasia And Immunodeficiency 1	Molluscum contagiosum, Abnormal circulating IgG level, Dysgammaglobulinemia, Increased circulatin...	OMIM:300291
Cutaneous Neuroendocrine Carcinoma	Lymphoid leukemia, Chronic noninfectious lymphadenopathy	ORPHA:79140
Leopard Syndrome 1	Hypertrophic cardiomyopathy, Bundle branch block, Third degree atrioventricular block, Pulmonic s...	OMIM:151100
Noonan Syndrome-Like Disorder With Loose Anagen Hair 2	Hypertrophic cardiomyopathy, Tricuspid regurgitation, Mitral regurgitation, Right bundle branch b...	OMIM:617506
Xeroderma Pigmentosum, Complementation Group B	Cutaneous photosensitivity, Progeroid facial appearance	OMIM:610651
Trichorhinophalangeal Syndrome, Type Iii	Epidermal hyperkeratosis	OMIM:190351
Addison Disease	Dry skin	ORPHA:85138
Esophageal Atresia	Dysphagia, Cyanosis, Oral aversion	ORPHA:1199
Lissencephaly Due To Lis1 Mutation	Neonatal hyperbilirubinemia, Aspiration pneumonia	ORPHA:95232
Sapho Syndrome	Inflammation of the large intestine, Osteomyelitis, Psoriasiform dermatitis, Skin rash, Palmoplan...	ORPHA:793
Ppoma	Intrahepatic cholestasis, Cholelithiasis, Abnormal abdomen morphology, Increased circulating cort...	ORPHA:97278
Meckel Syndrome 14	Cyanosis	OMIM:619879
Microphthalmia With Linear Skin Defects Syndrome	Erythema	ORPHA:2556
De Sanctis-Cacchione Syndrome	Telangiectasia, Parakeratosis, Cutaneous photosensitivity	OMIM:278800
Urban-Rogers-Meyer Syndrome	Increased circulating IgE level, Obesity	ORPHA:3409
Malakoplakia	Inflammatory abnormality of the skin, Urinary bladder inflammation, Skin rash, Follicular hyperpl...	ORPHA:556
Exercise-Induced Malignant Hyperthermia	Dry skin, Flushing	ORPHA:466650
Restrictive Dermopathy 1	Epidermal hyperkeratosis, Oligohydramnios, Neonatal death, Prominent superficial blood vessels, S...	OMIM:275210
Bartter Syndrome Type 4	Polyhydramnios, Dehydration	ORPHA:89938
Neonatal Acute Respiratory Distress Due To Sp-B Deficiency	Intraalveolar phospholipid accumulation, Spontaneous neonatal pneumothorax, Interstitial pneumoni...	ORPHA:217563
Heterotaxy, Visceral, 7, Autosomal	Cyanosis, Polysplenia	OMIM:616749
Noonan Syndrome 1	Webbed neck, Bruising susceptibility, Dry skin	OMIM:163950
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome	Self-injurious behavior, Polydipsia, Cyanosis, Polyphagia, Aggressive behavior, Compulsive behaviors	ORPHA:293987
Pitt-Hopkins Syndrome	Self-injurious behavior, Gait ataxia, Aggressive behavior, Ataxia, Acrocyanosis	ORPHA:2896
Multiple Endocrine Neoplasia Type 1	Dehydration, Anorexia	ORPHA:652
Hemihyperplasia-Multiple Lipomatosis Syndrome	Seborrheic dermatitis, Enlarged kidney, Hyperparakeratosis, Abnormality of the lymphatic system	ORPHA:276280
Alacrima, Achalasia, And Impaired Intellectual Development Syndrome	Hyperkeratosis, Dysphagia	OMIM:615510
Familial Dysautonomia	Gait disturbance, Acrocyanosis, Ataxia	ORPHA:1764
Caffey Disease	Increased circulating antibody level	ORPHA:1310
Asthma, Short Stature, And Elevated Iga	Increased circulating IgA level	OMIM:208600
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 2	Polyhydramnios, Cutis laxa, Follicular hyperkeratosis, Bruising susceptibility	OMIM:614557
Idiopathic Steroid-Sensitive Nephrotic Syndrome With Secondary Steroid Resistance	Hypertension, Pulmonary embolism	ORPHA:567546
Proteus Syndrome	Thickened skin, Pulmonary cyst, Cachexia, Pulmonary bulla, Enlarged polycystic ovaries, Lymphangi...	ORPHA:744
Fructose Intolerance, Hereditary	Elevated circulating hepatic transaminase concentration, Failure to thrive, Hyperbilirubinemia, H...	OMIM:229600
Osteogenesis Imperfecta, Type Iii	Pulmonary arterial hypertension	OMIM:259420
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked	Reduced alpha/beta synthesis ratio, HbH hemoglobin, Hypochromic microcytic anemia	OMIM:301040
Sturge-Weber Syndrome	Conjunctival telangiectasia, Pulmonary embolism	ORPHA:3205
Lymphangioleiomyomatosis	Chylothorax, Atelectasis, Ascites, Emphysema, Pulmonary lymphangiomyomatosis, Abnormality of the ...	ORPHA:538
Epidermolysis Bullosa, Junctional 7, With Interstitial Lung Disease And Nephrotic Syndrome	Erythema, Fragile skin	OMIM:614748
Bartter Syndrome, Type 1, Antenatal	Polyhydramnios, Dehydration	OMIM:601678
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 2	Bidirectional shunt, Peritonitis, Elevated pulmonary artery pressure	OMIM:619351
Cutis Laxa, Autosomal Recessive, Type Ic	Progeroid facial appearance, Redundant skin, Death in childhood, Death in infancy, Cutis laxa	OMIM:613177
Primary Aldosteronism, Seizures, And Neurologic Abnormalities	Hypertension, Pulmonary arterial hypertension, Second degree atrioventricular block	OMIM:615474
Multiple Mitochondrial Dysfunctions Syndrome 1	Pulmonary arterial hypertension	OMIM:605711
Seckel Syndrome	Prematurely aged appearance	ORPHA:808
ERI1-related disease	Tricuspid regurgitation, Pulmonary arterial hypertension	OMIM:608739
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy	Recurrent aspiration pneumonia, Elevated circulating hepatic transaminase concentration, Failure ...	ORPHA:397715
X-Linked Alport Syndrome-Diffuse Leiomyomatosis	Keratitis, Failure to thrive, Aspiration pneumonia, Tracheobronchial leiomyomatosis, Weight loss,...	ORPHA:1018
Cardiac Valvular Dysplasia 2	Central cyanosis	OMIM:620067
Cushing Disease	Increased circulating cortisol level, Lymphopenia, Leukocytosis, Increased body weight, Recurrent...	ORPHA:96253
Laubry-Pezzi Syndrome	Aortic regurgitation, Congestive heart failure, Palpitations, Mildly reduced left ventricular eje...	ORPHA:99094
Aspartylglucosaminuria	Reduced tissue aspartylglucosaminidase activity, Neutropenia, Hepatomegaly, Vacuolated lymphocyte...	OMIM:208400
Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To 5Q31.3 Microdeletion	Recurrent pneumonia, Aspiration pneumonia	ORPHA:314655
Cerebrotendinous Xanthomatosis	Aggressive behavior, Attention deficit hyperactivity disorder, Prolonged neonatal jaundice, Prema...	ORPHA:909
Systemic Sclerosis	Intestinal bleeding, Right ventricular failure, Nail bed telangiectasia, Telangiectasia, Syncope,...	ORPHA:90291
Synaptic Congenital Myasthenic Syndromes	Pulmonary arterial hypertension, Abnormal circulating enzyme concentration or activity	ORPHA:98915
Unilateral Polymicrogyria	Cyanosis, Pseudobulbar paralysis	ORPHA:268943
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb	Self-injurious behavior, Palmoplantar erythema, Motor stereotypy	OMIM:612474
Combined Oxidative Phosphorylation Deficiency 25	Failure to thrive, Aspiration pneumonia	OMIM:616430
Simpson-Golabi-Behmel Syndrome	Bundle branch block, Prolonged QT interval, Cardiomyopathy	ORPHA:373
Primary Fanconi Renotubular Syndrome	Dehydration	ORPHA:3337
Classical Ehlers-Danlos Syndrome	Poor wound healing, Bruising susceptibility, Striae distensae, Blepharochalasis, Joint swelling, ...	ORPHA:287
Kyphoscoliotic Ehlers-Danlos Syndrome	Poor wound healing, Bruising susceptibility, Follicular hyperkeratosis, Fragile skin, Thin skin	ORPHA:536545
Neuroendocrine Neoplasm Of Appendix	Hepatomegaly, Elevated circulating hepatic transaminase concentration, Chronic noninfectious lymp...	ORPHA:100079
Mercury Poisoning	Hypokalemia, Interstitial pneumonitis	ORPHA:330021
Wrinkly Skin Syndrome	Excessive skin wrinkling on dorsum of hands and fingers, Cutis laxa, Prominent veins on trunk, Ex...	ORPHA:2834
Alzahrani-Kuwahara Syndrome	Dry skin	OMIM:619268
Myeloma, Multiple	Paraproteinemia	OMIM:254500
Trichorhinophalangeal Syndrome, Type Ii	Dry skin, Redundant skin in infancy, Cutis laxa	OMIM:150230
Baller-Gerold Syndrome	Erythema	OMIM:218600
Down Syndrome	Prematurely aged appearance	ORPHA:870
Danon Disease	Hypokinesia	OMIM:300257
Corpus Callosum, Agenesis Of, With Impaired Intellectual Development, Ocular Coloboma, And Micrognathia	Recurrent aspiration pneumonia, Recurrent pneumonia, Patent ductus arteriosus	OMIM:300472
Basel-Vanagaite-Smirin-Yosef Syndrome	Pulmonary arterial hypertension	OMIM:616449
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans	Pulmonary arterial hypertension, Congestive heart failure	OMIM:616482
Johanson-Blizzard Syndrome	Intrahepatic cholestasis, Hepatic fibrosis, Hepatic failure, Elevated gamma-glutamyltransferase l...	OMIM:243800
Psoriasis-Related Juvenile Idiopathic Arthritis	Uveitis, Abnormality of tumor necrosis factor secretion, Sacroiliac arthritis, Psoriasiform derma...	ORPHA:85436
Marshall-Smith Syndrome	Recurrent upper respiratory tract infections, Failure to thrive, Aspiration pneumonia, Melanocyti...	OMIM:602535
17Q23.1Q23.2 Microdeletion Syndrome	Pulmonary arterial hypertension	ORPHA:261279
X-Linked Dystonia-Parkinsonism	Aspiration pneumonia	ORPHA:53351
Mosaic Variegated Aneuploidy Syndrome 7 With Inflammation And Tumor Predisposition	Hyperkeratosis	OMIM:620189
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1	Ectodermal dysplasia, Xerostomia, Hyperkeratosis, Thin skin	OMIM:129900
Orofaciodigital Syndrome Ix	Recurrent aspiration pneumonia	OMIM:258865
Microcephaly-Seizures-Intellectual Disability-Heart Disease Syndrome	Pulmonary arterial hypertension	ORPHA:2519
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency	Dehydration	ORPHA:90794
Glycogen Storage Disease Of Heart, Lethal Congenital	Cyanosis	OMIM:261740
Parkinson Disease, Late-Onset	Lewy bodies, Substantia nigra gliosis	OMIM:168600
Aorta Coarctation	Pulmonary arterial hypertension, Hypertension, Congestive heart failure	ORPHA:1457
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome	Hyperpigmented/hypopigmented macules, Peripheral pulmonary artery stenosis, Blepharitis, Fair hai...	ORPHA:280633
Global Developmental Delay-Osteopenia-Ectodermal Defect Syndrome	Thickened skin, Abnormal temper tantrums, Aggressive behavior, Attention deficit hyperactivity di...	ORPHA:73223
Restrictive Dermopathy	Webbed neck, Generalized hyperkeratosis, Scaling skin, Polyhydramnios, Dermal translucency, Epide...	ORPHA:1662
Basel-Vanagaite-Smirin-Yosef Syndrome	Cholelithiasis, Pulmonary arterial hypertension	ORPHA:464738
Neuropathy, Hereditary Sensory And Autonomic, Type Iii	Acrocyanosis	OMIM:223900
Cutis Laxa, Autosomal Recessive, Type Iid	Hypertrophic cardiomyopathy, Right bundle branch block, Congestive heart failure	OMIM:617403
Keppen-Lubinsky Syndrome	Polyhydramnios, Lack of facial subcutaneous fat, Progeroid facial appearance	OMIM:614098
Heterotaxy, Visceral, 1, X-Linked	Asplenia, Cyanosis, Polysplenia	OMIM:306955
Spondyloepimetaphyseal Dysplasia, Sponastrime Type	Decreased circulating IgG level, Neutropenia	OMIM:271510
Hereditary Sensory And Autonomic Neuropathy Type 4	Dry skin, Bruising susceptibility	ORPHA:642
Spondyloepimetaphyseal Dysplasia, Guo-Campeau Type	Tricuspid regurgitation, Pulmonary arterial hypertension	OMIM:620663
Telangiectasia, Hereditary Hemorrhagic, Type 4	Tongue telangiectasia, Nasal mucosa telangiectasia, Cyanosis, Conjunctival telangiectasia, Palate...	OMIM:610655
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 2	Elevated circulating creatine kinase concentration, Increased circulating antibody level, Elevate...	OMIM:606002
Lenz-Majewski Hyperostotic Dwarfism	Prematurely aged appearance, Redundant skin	ORPHA:2658
15Q Overgrowth Syndrome	Tricuspid regurgitation, Pulmonary arterial hypertension, Mitral regurgitation	ORPHA:314585
Geleophysic Dysplasia 1	Aortic valve stenosis, Congestive heart failure, Mitral stenosis, Pulmonary arterial hypertension...	OMIM:231050
Neurodevelopmental Disorder With Hypotonia, Language Delay, And Skeletal Defects With Or Without Seizures	Prolonged QT interval, Pulmonary arterial hypertension	OMIM:620029
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 3	Ectodermal dysplasia, Xerostomia, Hyperkeratosis	OMIM:604292
Absence Of The Pulmonary Artery	Atrial flutter, Congestive heart failure, Abnormal EKG, Reduced left ventricular ejection fractio...	ORPHA:980
Double Outlet Left Ventricle	Cyanosis	ORPHA:3427
Trichinellosis	Increased circulating IgE level, Conjunctivitis, Skin rash	ORPHA:863
Cowden Syndrome	Palmoplantar keratoderma, Hypopigmented skin patches, Failure to thrive, Generalized hyperkeratos...	ORPHA:201
3Q29 Microdeletion Syndrome	Pulmonary arterial hypertension	ORPHA:65286
Smooth Muscle Dysfunction Syndrome	Pulmonary arterial hypertension, Hypertension	OMIM:613834
Chondrodysplasia Punctata, Autosomal Dominant	Hyperkeratosis with erythema	OMIM:118650
Vascular Ehlers-Danlos Syndrome	Bruising susceptibility, Redundant skin, Excessive wrinkled skin, Telangiectasia of the skin, Der...	ORPHA:286
Coffin-Siris Syndrome	Hepatoblastoma, Recurrent upper respiratory tract infections, Patent ductus arteriosus, Aspiratio...	ORPHA:1465
Proximal Spinal Muscular Atrophy	Recurrent infections due to aspiration, Recurrent aspiration pneumonia	ORPHA:70
Juvenile Polyposis Syndrome	Hematochezia, Gastrointestinal hemorrhage, Epistaxis, Transient ischemic attack, Hepatic arteriov...	ORPHA:2929
Cutis Laxa, Autosomal Recessive, Type Iic	Aortic regurgitation, Tricuspid regurgitation, Right bundle branch block	OMIM:617402
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome	Anemia, Decreased circulating iron concentration, Patent ductus arteriosus, Aspiration pneumonia	ORPHA:438213
6Q Terminal Deletion Syndrome	Obesity, Hyperkeratosis, Failure to thrive	ORPHA:75857
Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta	Congestive heart failure, Pulmonary arterial hypertension, Left ventricular outflow tract obstruc...	ORPHA:99050
Cysticercosis	Increased anti-parasite IgE antibody level, Iridocyclitis, Increased circulating antibody level, ...	ORPHA:1560
Carey-Fineman-Ziter Syndrome 1	Pulmonary arterial hypertension	OMIM:254940
Isolated Posterior Meningocele	Difficulty walking, Hypokinesia	ORPHA:268810
Mandibuloacral Dysplasia Progeroid Syndrome	Palmoplantar hyperkeratosis, Progeroid facial appearance	OMIM:619127
Okur-Chung Neurodevelopmental Syndrome	Decreased circulating IgG level, Decreased circulating IgA level, Decreased circulating antibody ...	OMIM:617062
Schwartz-Jampel Syndrome	Arrhythmia, Pulmonary arterial hypertension, Elevated circulating aldolase concentration	ORPHA:800
Miller-Dieker Lissencephaly Syndrome	Recurrent aspiration pneumonia, Failure to thrive	OMIM:247200
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome	Obesity, Acanthosis nigricans, Patent ductus arteriosus, Aspiration pneumonia	ORPHA:444077
Developmental Delay With Or Without Dysmorphic Facies And Autism	Pulmonary arterial hypertension	OMIM:618454
Brain-Lung-Thyroid Syndrome	Pulmonary arterial hypertension	ORPHA:209905
Congenital Fiber-Type Disproportion Myopathy	Recurrent respiratory infections, Weight loss, Failure to thrive, Aspiration pneumonia	ORPHA:2020
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion	Pneumonia, Failure to thrive, Obesity, Otitis media, Recurrent respiratory infections, Patent duc...	ORPHA:353281
Cardiac Valvular Dysplasia 1	Cyanosis	OMIM:212093
Scimitar Syndrome	Congestive heart failure, Pulmonary arterial hypertension, Left-to-right shunt, Heart block	ORPHA:185
Williams Syndrome	Increased nuchal translucency, Redundant skin, Overfriendliness, Attention deficit hyperactivity ...	ORPHA:904
Adenocarcinoma Of The Anal Canal	Neoplasm of the liver, Lymphadenopathy, Neoplasm of the lung	ORPHA:424016
Opitz Gbbb Syndrome	Recurrent aspiration pneumonia, Enlarged ovaries, Patent ductus arteriosus	ORPHA:2745
Primary Hyperoxaluria	Cutis marmorata, Acrocyanosis	ORPHA:416
Bickerstaff Brainstem Encephalitis	Pneumonia, Respiratory tract infection	ORPHA:79138
Kabuki Syndrome 1	Recurrent otitis media, Recurrent aspiration pneumonia, Autoimmune thrombocytopenia, Hemolytic an...	OMIM:147920
Metaphyseal Chondromatosis With D-2-Hydroxyglutaric Aciduria	Dry skin	ORPHA:99646
Pmm2-Cdg	Hypoalbuminemia, Hepatic fibrosis, Elevated circulating hepatic transaminase concentration, Failu...	ORPHA:79318
Adult-Onset Autosomal Dominant Leukodystrophy	Aspiration pneumonia	ORPHA:99027
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins	Annular pancreas, Right-to-left shunt, Pulmonary arterial hypertension, Pulmonary insufficiency, ...	OMIM:265380
Congenital Tracheal Stenosis	Cyanosis	ORPHA:141127
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome	Prolonged neonatal jaundice, Aplasia of the thymus, Pulmonary arterial hypertension	OMIM:620186
Arboleda-Tham Syndrome	Recurrent respiratory infections, Recurrent otitis media, Patent ductus arteriosus, Freckling, Co...	OMIM:616268
Encephalitis Lethargica	Increased circulating antibody level	ORPHA:83600
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome	Decreased circulating IgG level, Failure to thrive in infancy, Emphysema, Secretory IgA deficienc...	ORPHA:500150
Lymphatic Malformation 13	Pulmonary arterial hypertension, Mitral regurgitation	OMIM:620244
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency	Pneumonia, Failure to thrive, Obesity, Otitis media, Recurrent respiratory infections, Patent duc...	ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations	Pneumonia, Failure to thrive, Obesity, Otitis media, Recurrent respiratory infections, Patent duc...	ORPHA:353277
Truncus Arteriosus	Hypoplasia of the thymus, Cyanosis	ORPHA:3384
Ctcf-Related Neurodevelopmental Disorder	Prolonged neonatal jaundice, Pulmonary hemorrhage, Pulmonary arterial hypertension, Mitral regurg...	ORPHA:363611
Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations	Aortic valve stenosis, Aortic regurgitation, Tricuspid regurgitation, Mitral regurgitation, Mitra...	OMIM:143095
Encephalocraniocutaneous Lipomatosis	Aortic valve stenosis, Pulmonary arterial hypertension	ORPHA:2396
Lafora Disease	Recurrent aspiration pneumonia, Hepatic failure	ORPHA:501
Branchioskeletogenital Syndrome	Blepharochalasis, Periorbital wrinkles	ORPHA:1299
Calcific Aortic Disease With Immunologic Abnormalities, Familial	Increased circulating antibody level	OMIM:114065
Tetrasomy 9P	Absent gallbladder, Biliary atresia, Pulmonary arterial hypertension, Raynaud phenomenon, Jaundic...	ORPHA:3310
Goodpasture Syndrome	Anemia, Cyanosis	OMIM:233450
Dysmorphism-Short Stature-Deafness-Difference Of Sex Development Syndrome	Pulmonary arterial hypertension	ORPHA:2282
Diaphragmatic Hernia 4, With Cardiovascular Defects	Hepatomegaly, Pulmonary arterial hypertension	OMIM:620025
Doors Syndrome	Thrombocytosis, Aspiration pneumonia	ORPHA:79500
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14	Hypertrophic cardiomyopathy, Hepatosplenomegaly, Hepatoblastoma, Pulmonary arterial hypertension,...	ORPHA:96334
Generalized Arterial Calcification Of Infancy	Transient ischemic attack, Left ventricular systolic dysfunction, Elevated alkaline phosphatase o...	ORPHA:51608
Cog1-Cdg	Hepatosplenomegaly, Pulmonary arterial hypertension	ORPHA:263508
Ciliary Dyskinesia, Primary, 20	Aortic valve stenosis, Pulmonary arterial hypertension	OMIM:615067
Adams-Oliver Syndrome 1	Aortic valve stenosis, Pulmonary arterial hypertension, Hypertension, Pulmonic stenosis	OMIM:100300
Semilobar Holoprosencephaly	Failure to thrive, Aspiration pneumonia	ORPHA:220386
Alobar Holoprosencephaly	Failure to thrive, Aspiration pneumonia	ORPHA:93925
Midline Interhemispheric Variant Of Holoprosencephaly	Failure to thrive, Aspiration pneumonia	ORPHA:93926
Lobar Holoprosencephaly	Failure to thrive, Aspiration pneumonia	ORPHA:93924
Melnick-Needles Syndrome	Pulmonary arterial hypertension	OMIM:309350
Coffin-Lowry Syndrome	Cutis marmorata, Acrocyanosis	OMIM:303600
Central Hypoventilation Syndrome, Congenital, 2, And Autonomic Dysfunction	Aspiration pneumonia	OMIM:619482
Cutis Laxa, Autosomal Recessive, Type Ib	Tricuspid regurgitation, Pulmonary insufficiency, Pulmonary arterial hypertension, Bradycardia	OMIM:614437
Yunis-Varon Syndrome	Pulmonary arterial hypertension, Renovascular hypertension, Hypertension, Cardiomyopathy	ORPHA:3472
17Q11 Microdeletion Syndrome	Hypertrophic cardiomyopathy, Pulmonary arterial hypertension, Telangiectasia of the skin, Leukemi...	ORPHA:97685
Hypermobile Ehlers-Danlos Syndrome	Acrocyanosis, Bruising susceptibility	ORPHA:285
Yunis-Varon Syndrome	Aspiration pneumonia, Failure to thrive in infancy, Severe failure to thrive, Palmoplantar hyperk...	OMIM:216340
Congenital Total Pulmonary Venous Return Anomaly	Right ventricular failure, Tricuspid regurgitation, Mitral regurgitation, Pulmonary arterial hype...	ORPHA:99125
Holt-Oram Syndrome	Abdominal situs inversus, Tricuspid regurgitation, Left ventricular noncompaction cardiomyopathy,...	OMIM:142900
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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