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Gene: Mta2 MGI:1346340

Not currently registered for phenotyping at IMPC

Phenotyping is currently not planned for a knockout strain of this gene.

Gene Summary

Name:

metastasis-associated gene family, member 2

Synonyms:

Mta1l1, mmta2

Order Alleles

IMPC Data Collections

No Body Weight Data
No Embryo Imaging Data
No Viability Data

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.

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.

Phenotype associated images not available

Human diseases caused by Mta2 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 Mta2 (0 diseases)
Human diseases predicted to be associated with Mta2 (1098 diseases)

No human diseases associated to this gene by orthology or annotation.

The table below shows human diseases predicted to be associated to Mta2 by phenotypic similarity.

Disease	Matching phenotypes	Source
Idiopathic Non-Lupus Full-House Nephropathy	Glomerular C3 deposition, Renal insufficiency, Skin rash, Glomerulonephritis, Autoimmunity, Micro...	ORPHA:567544
Autoimmune Disease, Multisystem, Infantile-Onset, 2	Proteinuria, Autoimmunity, Minimal change glomerulonephritis, Nephrotic syndrome, Colitis, Podocy...	OMIM:617006
Immunodeficiency, Common Variable, 6	Hepatomegaly, Glomerulonephritis, Nephrotic range proteinuria, Autoimmune thrombocytopenia, Stage...	OMIM:613496
Autoimmune Lymphoproliferative Syndrome, Type Iii	Elevated circulating C-reactive protein concentration, Hepatomegaly, Alopecia, Elevated circulati...	OMIM:615559
Chilblain Lupus	Inflammatory abnormality of the skin, Antiphospholipid antibody positivity, Skin rash, Rheumatoid...	ORPHA:90280
C3 Glomerulopathy	Membranoproliferative glomerulonephritis, Lipodystrophy, Autoimmunity, Proteinuria, Mesangial hyp...	ORPHA:329918
Systemic Lupus Erythematosus 16	Lupus nephritis, Antinuclear antibody positivity, Systemic lupus erythematosus, Anti-dsDNA antibo...	OMIM:614420
Autoimmune Lymphoproliferative Syndrome	Rheumatoid factor positive, Uveitis, Increased circulating IgG level, Colitis, Decreased circulat...	ORPHA:3261
Acquired Generalized Lipodystrophy	Hepatomegaly, Acute pancreatitis, Hypertriglyceridemia, Proteinuria, Autoimmunity, Generalized li...	ORPHA:79086
Lipodystrophy, Partial, Acquired, Susceptibility To	Membranoproliferative glomerulonephritis, Proteinuria, Hematuria, Nephrotic syndrome, Progressive...	OMIM:608709
Neutrophilic Dermatosis, Acute Febrile	Increased circulating interleukin 6 concentration, Elevated circulating C-reactive protein concen...	OMIM:608068
Acquired Ichthyosis	Renal insufficiency, Recurrent skin infections, Autoimmunity, Pruritus, Erythema, Hyperkeratosis,...	ORPHA:454
Nephrotic Syndrome, Type 7	Membranoproliferative glomerulonephritis, Proteinuria, Hemolytic-uremic syndrome, Stage 5 chronic...	OMIM:615008
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis	Glomerulonephritis, Autoimmune hemolytic anemia, Increased circulating antibody level, Pneumonia	OMIM:247800
Autoimmune Hepatitis	Liver kidney microsome type 1 antibody positivity, Fulminant hepatitis, Increased circulating IgG...	ORPHA:2137
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome	Elevated hepatic transaminase, Hepatomegaly, Renal artery aneurysm, Skin rash, Eczema, Elevated c...	OMIM:615688
Complement Component 3 Deficiency, Autosomal Recessive	Renal insufficiency, Membranoproliferative glomerulonephritis, Recurrent pneumonia, Systemic lupu...	OMIM:613779
C1Q Deficiency 1	Membranoproliferative glomerulonephritis, Autoimmunity, Systemic lupus erythematosus	OMIM:613652
Aquagenic Palmoplantar Keratoderma	Excessive skin wrinkling on dorsum of hands and fingers, Atopic dermatitis, Systemic lupus erythe...	ORPHA:498359
Nephrotic Syndrome, Type 15	Proteinuria, Minimal change glomerulonephritis, Stage 5 chronic kidney disease, Hypoalbuminemia, ...	OMIM:617609
Proteasome-Associated Autoinflammatory Syndrome 3	Elevated hepatic transaminase, Hepatomegaly, Myositis, Sinusitis, Skin rash, Lipodystrophy, Hyper...	OMIM:617591
T-Cell Lymphoma, Subcutaneous Panniculitis-Like	Hypertriglyceridemia, Autoimmunity, Splenomegaly, Increased circulating ferritin concentration, P...	OMIM:618398
Sweet Syndrome	Predominantly dermal neutrophilic infiltrate, Myositis, Increased circulating interleukin 6 conce...	ORPHA:3243
Immunodeficiency 22	Pericarditis, Autoimmunity, Decreased circulating total IgM, Panniculitis, Decreased circulating ...	OMIM:615758
C3 Glomerulopathy 3	Glomerular C3 deposition, Renal insufficiency, Glomerulonephritis, Mesangial hypercellularity, St...	OMIM:614809
Nephrotic Syndrome, Type 23	Proteinuria, Mesangial hypercellularity, Minimal change glomerulonephritis, Focal segmental glome...	OMIM:619201
Lymphoproliferative Syndrome, X-Linked, 2	Hepatomegaly, Hypertriglyceridemia, Acne, Recurrent skin infections, Erythema nodosum, Increased ...	OMIM:300635
Autoimmune Interstitial Lung, Joint, And Kidney Disease	Elevated circulating C-reactive protein concentration, Mesangial hypercellularity, Antinuclear an...	OMIM:616414
Nodular Non-Suppurative Panniculitis	Hepatomegaly, Autoimmunity, Splenomegaly, Erythema, Panniculitis, Inflammatory abnormality of the...	ORPHA:33577
Proteasome-Associated Autoinflammatory Syndrome 1	Decreased HDL cholesterol concentration, Increased circulating interleukin 6 concentration, Eleva...	OMIM:256040
Complement Component 4A Deficiency	Purpura, Glomerulonephritis, Systemic lupus erythematosus	OMIM:614380
Netherton Syndrome	Sparse scalp hair, Skin rash, Eczema, Sparse eyelashes, Ectopic kidney, Sparse eyebrow, Abnormal ...	ORPHA:634
Porphyria Cutanea Tarda	Abnormal circulating porphyrin concentration, Scaling skin, Elevated hepatic iron concentration, ...	ORPHA:101330
Complement Component C1S Deficiency	Hepatitis, Hashimoto thyroiditis, Systemic lupus erythematosus	OMIM:613783
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome	Myositis, Anti-thyroid peroxidase antibody positivity, Abnormal blood ion concentration, Tubuloin...	ORPHA:37042
Lipodystrophy, Partial, Acquired, With Low Complement Component C3, With Or Without Glomerulonephritis	Membranoproliferative glomerulonephritis, Lipodystrophy, Proteinuria, Hematuria, Nephrotic syndro...	OMIM:613913
Primary Membranoproliferative Glomerulonephritis	Renal insufficiency, Proteinuria, Chronic kidney disease, Stage 5 chronic kidney disease, Nephrot...	ORPHA:54370
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome	Autoimmune hemolytic anemia, Autoimmunity, Autoimmune thrombocytopenia, Splenomegaly, Hepatitis, ...	ORPHA:444463
Proteasome-Associated Autoinflammatory Syndrome 4	Hepatomegaly, Myositis, Autoimmune hemolytic anemia, Splenomegaly, Flexion contracture, Erythema,...	OMIM:619183
Autoinflammatory Disease, Systemic, X-Linked	Anterior uveitis, Complete or near-complete absence of specific antibody response to unconjugated...	OMIM:301081
Autoinflammation, Panniculitis, And Dermatosis Syndrome	Lipodystrophy, Skin rash, Elevated circulating C-reactive protein concentration, Increased circul...	OMIM:617099
Palmoplantar Keratoderma, Norrbotten Recessive Type	Hyperkeratosis, Palmoplantar keratoderma, Recurrent cutaneous fungal infections	OMIM:244850
Familial Reactive Perforating Collagenosis	Perifolliculitis, Inflammatory abnormality of the skin, Maculopapular exanthema, Pruritus, Crusti...	ORPHA:79147
Focal Segmental Glomerulosclerosis 10	Renal insufficiency, Proteinuria, Minimal change glomerulonephritis, Stage 5 chronic kidney disea...	OMIM:256020
Familial Hemophagocytic Lymphohistiocytosis	Increased circulating interleukin 6 concentration, Increased circulating interferon-gamma concent...	ORPHA:540
Nephrotic Syndrome, Type 6	Proteinuria, Minimal change glomerulonephritis, Stage 5 chronic kidney disease, Focal segmental g...	OMIM:614196
Nephrotic Syndrome, Type 10	Nephrotic syndrome, Podocyte foot process effacement, Steroid-resistant nephrotic syndrome, Minim...	OMIM:615861
Immunodeficiency 91 And Hyperinflammation	Acute hepatic failure, Death in infancy, Renal insufficiency, Membranoproliferative glomeruloneph...	OMIM:619644
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency	Hepatomegaly, Glomerulonephritis, Autoimmune thrombocytopenia, Antinuclear antibody positivity, S...	OMIM:619375
Nephrotic Syndrome, Type 16	Hematuria, Nephrotic syndrome, Proteinuria, Minimal change glomerulonephritis	OMIM:617783
Glycogen Storage Disease Due To Lactate Dehydrogenase M-Subunit Deficiency	Elevated hepatic transaminase, Predominantly dermal neutrophilic infiltrate, Parakeratosis, Super...	ORPHA:284426
Ulerythema Ophryogenesis	Acne, Miscarriage, Facial erythema, Hyperkeratotic papule, Follicular hyperkeratosis, Dry skin, C...	ORPHA:3406
Systemic Lupus Erythematosus	Pericarditis, Antiphospholipid antibody positivity, Lupus nephritis, Antinuclear antibody positiv...	OMIM:152700
Fusariosis	Fasciitis, Sinusitis, Maculopapular exanthema, Myositis, Pneumonia, Osteomyelitis, Keratitis, Abn...	ORPHA:228119
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked	Alopecia, Glomerulonephritis, Eczema, Autoimmune thrombocytopenia, Increased circulating IgE leve...	OMIM:304790
Congenital Membranous Nephropathy Due To Fetomaternal Anti-Neutral Endopeptidase Alloimmunization	Nephrotic syndrome, Renal insufficiency, Glomerular deposits, Glomerulonephritis	ORPHA:69063
Igg4-Related Retroperitoneal Fibrosis	Rheumatoid factor positive, Elevated circulating C-reactive protein concentration, Anti-thyroid p...	ORPHA:49041
Cholestasis, Progressive Familial Intrahepatic, 12	Hepatomegaly, Proteinuria, Elevated circulating aspartate aminotransferase concentration, Pruritu...	OMIM:620010
Coccidioidomycosis	Abnormality of the spleen, Increased circulating IgG level, Abnormality of the liver, Morbillifor...	ORPHA:228123
Congenital Lethal Erythroderma	Congenital exfoliative erythroderma, Death in infancy, Hypoalbuminemia, Ichthyosis, Dry skin	ORPHA:1954
Acne Inversa, Familial, 3	Chronic furunculosis, Recurrent cutaneous abscess formation, Perifolliculitis, Acne inversa	OMIM:613737
X-Linked Agammaglobulinemia	Recurrent cutaneous abscess formation, Alopecia, Sinusitis, Osteomyelitis, Skin rash, Autoimmunit...	ORPHA:47
Linear Atrophoderma Of Moulin	Pruritus, Scleroderma, Inflammatory abnormality of the skin	ORPHA:140933
Arthrogryposis, Renal Dysfunction, And Cholestasis 2	Elevated hepatic transaminase, Giant cell hepatitis, Death in infancy, Hepatomegaly, Proteinuria,...	OMIM:613404
Idiopathic Steroid-Resistant Nephrotic Syndrome	Diffuse mesangial sclerosis, Hypertriglyceridemia, Foamy urine, Proteinuria, Minimal change glome...	ORPHA:567548
Systemic Sclerosis	Elevated circulating creatine kinase concentration, Flexion contracture, Acral ulceration, Alopec...	ORPHA:90291
Immunodeficiency 51	Recurrent skin infections, Eczema, Pneumonia, Abnormal lymphocyte physiology, Pustule, Chronic mu...	OMIM:613953
Immunodeficiency 25	Autoimmune hemolytic anemia, Increased circulating IgA level, Recurrent pneumonia, Increased circ...	OMIM:610163
Panniculitis-Induced Localized Lipodystrophy	Reduced subcutaneous adipose tissue, Inflammatory abnormality of the skin, Lipoatrophy, Abnormal ...	ORPHA:90159
Simple Cryoglobulinemia	Viral hepatitis, Pericarditis, Membranoproliferative glomerulonephritis, Rheumatoid factor positi...	ORPHA:91139
Macrophage Activation Syndrome	Increased inflammatory response, Increased circulating interleukin 6 concentration, Hypertriglyce...	ORPHA:158061
Dissecting Cellulitis Of The Scalp	Pruritus, Abnormal hair morphology, Recurrent skin infections, Cellulitis	ORPHA:345
Autoinflammatory-Pancytopenia Syndrome	Membranoproliferative glomerulonephritis, Lipodystrophy, Intestinal inflammation, Chilblains, Pro...	OMIM:619858
Ichthyosis Hystrix Of Curth-Macklin	Recurrent skin infections, Diffuse palmoplantar hyperkeratosis, Flexion contracture, Hyperkeratos...	ORPHA:79503
Ichthyosis, Congenital, Autosomal Recessive 10	Hypergranulosis, Hyperkeratosis, Orthokeratotic hyperkeratosis, Palmoplantar keratoderma, General...	OMIM:615024
Epidermolytic Hyperkeratosis 2	Palmoplantar hyperkeratosis, Hyperkeratosis, Cobblestone-like hyperkeratosis, Palmoplantar kerato...	OMIM:620150
Say-Barber-Miller Syndrome	Eczema, Highly arched eyebrow, Abnormality of the hairline, Erythema nodosum, Sparse eyebrow, Cry...	ORPHA:3132
Pityriasis Rubra Pilaris	Subungual hyperkeratosis, Eczema, Pruritus, Pustule, Thickened skin, Ichthyosis, Palmoplantar ker...	ORPHA:2897
Lamellar Ichthyosis	Renal insufficiency, Pruritus, Lack of skin elasticity, Ichthyosis, Hyperkeratosis, Sparse hair, ...	ORPHA:313
Ichthyosis, Hystrix-Like, With Deafness	Sparse scalp hair, Sparse eyelashes, Absent eyelashes, Scarring alopecia of scalp, Sparse eyebrow...	OMIM:602540
Postinfectious Vasculitis	Rheumatoid factor positive, Elevated circulating C-reactive protein concentration, Gastrointestin...	ORPHA:48435
Renal Failure, Progressive, With Hypertension	Renal insufficiency, Proteinuria, Elevated circulating creatinine concentration, Stage 5 chronic ...	OMIM:161900
Nephrotic Syndrome, Type 11	Diffuse mesangial sclerosis, Proteinuria, Minimal change glomerulonephritis, Stage 5 chronic kidn...	OMIM:616730
Genetic Steroid-Resistant Nephrotic Syndrome	Diffuse mesangial sclerosis, Foamy urine, Proteinuria, Minimal change glomerulonephritis, Periton...	ORPHA:656
Verrucous Hemangioma	Inflammatory abnormality of the skin, Hyperkeratotic papule	ORPHA:464318
Omenn Syndrome	Hepatomegaly, Alopecia, Autoimmunity, Pneumonia, Pruritus, Thickened skin, Splenomegaly, Thyroidi...	ORPHA:39041
Autosomal Dominant Epidermolytic Ichthyosis	Erythroderma, Skin ulcer, Hyperkeratosis, Ichthyosis, Palmoplantar keratoderma, Congenital bullou...	ORPHA:312
Bathing Suit Ichthyosis	Alopecia, Multiple joint contractures, Parakeratosis, Thickened skin, Palmoplantar hyperkeratosis...	ORPHA:100976
Thrombocytopenia With Elevated Serum Iga And Renal Disease	Hematuria, Glomerulonephritis, Increased circulating IgA level	OMIM:314000
Acquired Partial Lipodystrophy	Glomerulopathy, Lipoatrophy, Autoimmunity, Proteinuria, Microscopic hematuria, Hepatic steatosis,...	ORPHA:79087
Pauci-Immune Glomerulonephritis	Renal insufficiency, Proteinuria, Glomerulonephritis, Microscopic hematuria, Antinuclear antibody...	ORPHA:93126
Igg4-Related Kidney Disease	Rheumatoid factor positive, Elevated circulating C-reactive protein concentration, Lymphadenitis,...	ORPHA:449395
Chilblain Lupus 1	Antinuclear antibody positivity, Chilblains, Skin ulcer	OMIM:610448
Aicardi-Goutières Syndrome	Elevated hepatic transaminase, Myositis, Multiple joint contractures, Lipoatrophy, Autoimmunity, ...	ORPHA:51
Thymoma	Myositis, Glomerulonephritis, Autoimmunity, Abnormal lymphocyte proliferation, Abnormal lymphocyt...	ORPHA:99867
Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige	Psoriasiform dermatitis, Recurrent skin infections, Eosinophilic infiltration of the esophagus, H...	OMIM:615508
Complement Component C1R/C1S Deficiency	Discoid lupus rash, Arthritis, Nephritis, Autoimmunity	OMIM:216950
Idiopathic Pulmonary Hemosiderosis	Hepatomegaly, Rheumatoid factor positive, Glomerulonephritis, Antinuclear antibody positivity, Au...	ORPHA:99931
Galloway-Mowat Syndrome 7	Diffuse mesangial sclerosis, Proteinuria, Eczema, Minimal change glomerulonephritis, Stage 5 chro...	OMIM:618348
Pemphigus Foliaceus	Psoriasiform dermatitis, Autoimmunity, Acantholysis, Pruritus, Pustule, Crusting erythematous der...	ORPHA:79481
Ichthyosis, Lamellar, Autosomal Dominant	Pruritus, Hyperkeratosis, Congenital nonbullous ichthyosiform erythroderma	OMIM:146750
Bacterial Toxic-Shock Syndrome	Fasciitis, Sinusitis, Myositis, Elevated circulating creatine kinase concentration, Hypoalbuminem...	ORPHA:36234
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Recessive	Elevated hepatic transaminase, Alopecia, Decreased circulating ceruloplasmin concentration, Decre...	OMIM:242150
Lysinuric Protein Intolerance	Decreased HDL cholesterol concentration, Tubulointerstitial nephritis, Renal fibrosis, Decreased ...	ORPHA:470
Subcutaneous Panniculitis-Like T-Cell Lymphoma	Panniculitis, Skin ulcer, Hepatosplenomegaly	ORPHA:86884
Netherton Syndrome	Sparse scalp hair, Parakeratosis, Brittle hair, Recurrent skin infections, Allergic rhinitis, Ecz...	OMIM:256500
Hypotrichosis Simplex Of The Scalp	Abnormal eyebrow morphology, Sparse scalp hair, Parakeratosis, Allergic rhinitis, Absent facial h...	ORPHA:90368
Porokeratosis Of Mibelli	Pruritus, Hyperkeratosis, Porokeratosis	ORPHA:735
Subacute Cutaneous Lupus Erythematosus	Antiphospholipid antibody positivity, Rheumatoid factor positive, Psoriasiform lesion, Anti-histo...	ORPHA:163525
Hyperprolinemia Type 1	Nephropathy, Proteinuria, Hyperprolinemia, Prolinuria	ORPHA:419
Sézary Syndrome	Hepatomegaly, Alopecia, Abnormal immunoglobulin level, Pruritus, Splenomegaly, Palmoplantar kerat...	ORPHA:3162
Galloway-Mowat Syndrome 2, X-Linked	Proteinuria, Minimal change glomerulonephritis, Stage 5 chronic kidney disease, Nephrotic syndrom...	OMIM:301006
Prolidase Deficiency	Hepatomegaly, Eczema, Elevated circulating aspartate aminotransferase concentration, Hyperimidodi...	OMIM:170100
Lipoprotein Glomerulopathy	Glomerulopathy, Renal insufficiency, Proteinuria, Mesangial hypercellularity	OMIM:611771
Classic Mycosis Fungoides	Hepatomegaly, Alopecia, Skin rash, Eczema, Pruritus, Splenomegaly, Erythema, Skin ulcer, Hyperker...	ORPHA:2584
Focal Segmental Glomerulosclerosis 6	Proteinuria, Stage 5 chronic kidney disease, Hematuria, Focal segmental glomerulosclerosis, Nephr...	OMIM:614131
Ichthyosis, Congenital, Autosomal Recessive 13	Ichthyosis, Hyperkeratosis, Hypergranulosis, Palmoplantar hyperkeratosis	OMIM:617574
Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome	Liver kidney microsome type 1 antibody positivity, Granulomatous cholangitis, Abnormal intrahepat...	ORPHA:562639
Congenital Panfollicular Nevus	Pruritus, Hyperkeratosis	ORPHA:139414
Short-Rib Thoracic Dysplasia 5 With Or Without Polydactyly	Hepatomegaly, Inguinal hernia, Proteinuria, Glomerulonephritis, Supernumerary nipple, Elevated ci...	OMIM:614376
Pgm3-Cdg	Rheumatoid factor positive, Increased circulating IgG level, Chronic otitis media, Membranoprolif...	ORPHA:443811
Palmoplantar Keratoderma, Nonepidermolytic, Focal 1	Perioral hyperkeratosis, Palmoplantar keratoderma, Follicular hyperkeratosis, Congenital bullous ...	OMIM:613000
Preeclampsia	Elevated hepatic transaminase, Proteinuria, Autoimmunity, Abnormality of the kidney, Chronic kidn...	ORPHA:275555
Q Fever	Rheumatoid factor positive, Abnormality of the liver, Cholecystitis, Lupus anticoagulant, Infecti...	ORPHA:781
Ichthyosis, Congenital, Autosomal Recessive 1	Alopecia, Parakeratosis, Flexion contracture, Palmoplantar hyperkeratosis, Ichthyosis, Congenital...	OMIM:242300
Erythroderma, Lethal Congenital	Congenital exfoliative erythroderma, Hypoalbuminemia, Death in infancy	OMIM:227090
Immunodeficiency 58	Colitis, Scaling skin, Chronic otitis media, Recurrent cutaneous abscess formation, Psoriasiform ...	OMIM:618131
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta	Chronic oral candidiasis, Pneumonia, Recurrent pneumonia, Hepatitis, Hepatosplenomegaly, Increase...	ORPHA:169160
Chronic Mucocutaneous Candidiasis	Dyspareunia, Recurrent urinary tract infections, Skin rash, Abnormal dental enamel morphology, Pr...	ORPHA:1334
C1Q Deficiency 2	Anti-Sm antibody positivity, Rheumatoid factor positive, Chilblains, Elevated circulating C-react...	OMIM:620321
Immunodeficiency By Defective Expression Of Mhc Class Ii	Autoimmune hemolytic anemia, Sinusitis, Skin rash, Autoimmunity, Autoimmune thrombocytopenia, Acu...	ORPHA:572
Ichthyosis, Congenital, Autosomal Recessive 6	Parakeratosis, Hypohidrosis, Hyperkeratosis, Palmoplantar keratoderma, Scaling skin, Generalized ...	OMIM:612281
Papa Syndrome	Increased inflammatory response, Myositis, Acne, Proteinuria, Pustule, Skin ulcer, Arthritis, Inc...	ORPHA:69126
Iga Pemphigus	Neutrophilic infiltration of the skin, Monoclonal elevation of circulating IgA, Increased circula...	ORPHA:555905
Erythrokeratodermia Variabilis Et Progressiva 5	Abnormal hair morphology, Hyperkeratosis, Palmoplantar hyperkeratosis	OMIM:617756
Nephrotic Syndrome, Type 9	Proteinuria, Stage 5 chronic kidney disease, Focal segmental glomerulosclerosis, Hypoalbuminemia,...	OMIM:615573
Palmoplantar Keratoderma, Nagashima Type	Orthokeratotic hyperkeratosis, Palmoplantar hyperhidrosis, Hypergranulosis, Palmoplantar hyperker...	OMIM:615598
Congenital Disorder Of Glycosylation, Type If	Death in infancy, Flexion contracture, Renal cortical cysts, Hyperkeratosis, Scaling skin, Erythr...	OMIM:609180
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity	Autoimmune hemolytic anemia, Psoriasiform dermatitis, Eczema, Decreased lymphocyte proliferation ...	OMIM:606367
Nephrotic Syndrome, Type 2	Proteinuria, Hyperlipidemia, Stage 5 chronic kidney disease, Focal segmental glomerulosclerosis, ...	OMIM:600995
Microcephaly-Lymphedema-Chorioretinopathy Syndrome	Melanonychia, Abnormal eyelash morphology, Abnormal hair morphology, Thickened skin, Leukonychia,...	ORPHA:2526
Ichthyosis With Confetti	Pruritus, Palmoplantar hyperkeratosis, Ichthyosis, Scaling skin, Hypoplastic nipples, Erythroderm...	OMIM:609165
Immunodeficiency 23	Membranoproliferative glomerulonephritis, Rheumatoid factor positive, Allergic rhinitis, Eczema, ...	OMIM:615816
Trichothiodystrophy 1, Photosensitive	Death in infancy, Brittle hair, Trichoschisis, Flexion contracture, Absence of subcutaneous fat, ...	OMIM:601675
Erythrokeratodermia Variabilis	Alopecia, Skin rash, Abnormal testis morphology, Abnormal hair morphology, Erythema, Patchy palmo...	ORPHA:317
Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency	Chronic gastritis, Liver abscess, Cholangitis, Cholecystitis, Decreased circulating IgG level, Ps...	ORPHA:183675
Iga Nephropathy, Susceptibility To, 2	Proteinuria, Stage 5 chronic kidney disease, Hematuria, Nephritis, IgA deposition in the glomerulus	OMIM:613944
Microcephaly-Glomerulonephritis-Marfanoid Habitus Syndrome	Chronic kidney disease, Glomerulonephritis	ORPHA:2172
Schimke Immuno-Osseous Dysplasia	Proteinuria, Autoimmunity, Impaired T cell function, Minimal change glomerulonephritis, Abnormal ...	ORPHA:1830
Peeling Skin Syndrome 1	Brittle hair, Pruritus, Increased circulating IgE level, Nail dystrophy, Palmoplantar hyperhidros...	OMIM:270300
Charcot-Marie-Tooth Disease, Dominant Intermediate E	Claw hand deformity, Elevated circulating creatine kinase concentration, Proteinuria, Stage 5 chr...	OMIM:614455
Arthrogryposis, Renal Dysfunction, And Cholestasis 1	Elevated hepatic transaminase, Giant cell hepatitis, Death in infancy, Conjugated hyperbilirubine...	OMIM:208085
Mal De Meleda	Inflammatory abnormality of the skin, Superficial dermal perivascular inflammatory infiltrate, Fl...	ORPHA:87503
Anti-Glomerular Basement Membrane Disease	Glomerulopathy, Renal insufficiency, Proteinuria, Autoimmunity, Hematuria, Arthritis, Purpura	ORPHA:375
Alopecia-Intellectual Disability Syndrome 4	Alopecia, Hypospadias, Bilateral cryptorchidism, Erythroderma, Ichthyosis, Micropenis	OMIM:618840
Adult-Onset Still Disease	Elevated hepatic transaminase, Hepatomegaly, Pericarditis, Skin rash, Elevated circulating C-reac...	ORPHA:829
Galloway-Mowat Syndrome 8	Proteinuria, Stage 5 chronic kidney disease, Hematuria, Nephrotic syndrome, Focal segmental glome...	OMIM:618349
Congenital Disorder Of Glycosylation, Type Iil	Elevated hepatic transaminase, Death in infancy, Hepatomegaly, Elevated circulating creatine kina...	OMIM:614576
Glomerulopathy With Fibronectin Deposits 1	Glomerulopathy, Renal insufficiency, Proteinuria, Stage 5 chronic kidney disease, Lobular glomeru...	OMIM:137950
Anonychia With Flexural Pigmentation	Abnormal hair morphology, Hyperkeratosis, Alopecia of scalp, Follicular hyperkeratosis	ORPHA:69125
Drug Reaction With Eosinophilia And Systemic Symptoms	Acute hepatic failure, Elevated hepatic transaminase, Renal insufficiency, Skin rash, Pustule, My...	ORPHA:139402
Primary Biliary Cholangitis	Autoimmunity, Portal hypertension, Increased circulating IgA level, Pruritus, Antinuclear antibod...	ORPHA:186
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency	Alopecia, Psoriasiform lesion, Autoimmune thrombocytopenia, Increased circulating IgA level, Incr...	ORPHA:169154
Nephrotic Syndrome, Type 5, With Or Without Ocular Abnormalities	Nephrotic syndrome, Proteinuria, Stage 5 chronic kidney disease	OMIM:614199
Neutropenia, Severe Congenital, 4, Autosomal Recessive	Hepatomegaly, Inguinal hernia, Recurrent urinary tract infections, Perianal abscess, Cryptorchidi...	OMIM:612541
Oocyte/Zygote/Embryo Maturation Arrest 10	Miscarriage, Female infertility	OMIM:619176
Focal Segmental Glomerulosclerosis And Neurodevelopmental Syndrome	Hypospadias, Glomerulonephritis, Proteinuria, Synophrys, Fine hair, Nephrotic syndrome, Glomerula...	OMIM:619428
Acrokeratosis Verruciformis	Hyperkeratosis, Punctate palmoplantar hyperkeratosis, Acrokeratosis	OMIM:101900
Hyper-Ige Syndrome 5, Autosomal Recessive, With Recurrent Infections	Increased circulating interleukin 6 concentration, Recurrent skin infections, Increased circulati...	OMIM:618944
Kerion Celsi	Alopecia, Recurrent cutaneous abscess formation, Inflammatory abnormality of the skin, Recurrent ...	ORPHA:499
Amyloidosis, Familial Visceral	Hepatomegaly, Skin rash, Proteinuria, Splenomegaly, Cholestasis, Hematuria, Nephrotic syndrome, N...	OMIM:105200
Iga Nephropathy, Susceptibility To, 1	IgA deposition in the glomerulus, Proteinuria, Stage 5 chronic kidney disease, Hematuria, Nephrit...	OMIM:161950
Erythrokeratodermia Variabilis Et Progressiva 1	Generalized hyperkeratosis, Patchy palmoplantar hyperkeratosis, Hypergranulosis, Erythroderma	OMIM:133200
Glomerulopathy With Fibronectin Deposits 2	Renal insufficiency, Glomerular deposits, Proteinuria, Glomerulomegaly, Stage 5 chronic kidney di...	OMIM:601894
Immunodeficiency With Hyper-Igm, Type 1	Decreased circulating IgG level, Hepatomegaly, Dysgammaglobulinemia, Impaired Ig class switch rec...	OMIM:308230
Epidermolytic Hyperkeratosis 1	Congenital bullous ichthyosiform erythroderma, Scaling skin, Palmoplantar hyperkeratosis, Erythro...	OMIM:113800
Autosomal Recessive Generalized Epidermolysis Bullosa Simplex	Pruritus, Palmoplantar hyperkeratosis, Hyperkeratosis, Atrophic scars, Dystrophic toenail	ORPHA:89838
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome	Bone marrow hypocellularity, Panniculitis, Eczema, Dry skin	ORPHA:508542
Ichthyosis Prematurity Syndrome	Allergic rhinitis, Pruritus, Generalized ichthyosis, Follicular hyperkeratosis, Erythroderma, Alo...	OMIM:608649
Pediatric Systemic Lupus Erythematosus	Dark urine, Myositis, Antiphospholipid antibody positivity, Skin rash, Alopecia, Renal insufficie...	ORPHA:93552
Ichthyosis, Congenital, Autosomal Recessive 7	Ichthyosis, Palmoplantar keratoderma, Hypergranulosis, Erythroderma	OMIM:615022
Interstitial Nephritis, Karyomegalic	Elevated hepatic transaminase, Renal tubular cyst, Proteinuria, Elevated circulating creatinine c...	OMIM:614817
Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome	Reduced subcutaneous adipose tissue, Absent eyebrow, Alopecia, Membranoproliferative glomerulonep...	OMIM:137940
Congenital Ichthyosiform Erythroderma	Alopecia, Keratitis, Pruritus, Hypohidrosis, Ichthyosis, Palmoplantar keratoderma, Erythroderma	ORPHA:79394
Autosomal Agammaglobulinemia	Sinusitis, Osteomyelitis, Skin rash, Recurrent skin infections, Bronchiectasis, Hepatitis, Agamma...	ORPHA:33110
Alport Syndrome 3A, Autosomal Dominant	Renal insufficiency, Glomerular basement membrane lamellation, Proteinuria, Glomerulonephritis, T...	OMIM:104200
Cryoglobulinemic Vasculitis	Viral hepatitis, Glomerulopathy, Renal insufficiency, Proteinuria, Hepatomegaly, Splenomegaly, Sk...	ORPHA:91138
Parana Hard Skin Syndrome	Hyperkeratosis, Thickened skin, Generalized hirsutism	ORPHA:2812
Insulin-Resistance Syndrome Type A	Hyperkeratosis, Generalized hirsutism	ORPHA:2297
Dent Disease 2	Increased circulating lactate dehydrogenase concentration, Elevated circulating creatine kinase c...	OMIM:300555
Rothmund-Thomson Syndrome, Type 1	Absent eyebrow, Premature ovarian insufficiency, Absent eyelashes, Hyperkeratosis, Sparse hair, N...	OMIM:618625
Autoinflammation With Arthritis And Dyskeratosis	Hepatomegaly, Autoimmune hemolytic anemia, Elevated circulating C-reactive protein concentration,...	OMIM:617388
Benign Cephalic Histiocytosis	Inflammatory abnormality of the skin, Skin rash	ORPHA:157997
Lichen Planopilaris	Alopecia, Pruritus, Hepatitis, Skin ulcer, Hyperkeratosis	ORPHA:525
Dracunculiasis	Recurrent cutaneous abscess formation, Skin rash, Pruritus, Flexion contracture, Skin ulcer, Arth...	ORPHA:231
Isolated Agammaglobulinemia	Recurrent cutaneous abscess formation, Sinusitis, Skin rash, Pneumonia, Autoimmunity, Skin ulcer,...	ORPHA:229717
Inflammatory Skin And Bowel Disease, Neonatal, 1	Perianal erythema, Pustule, Increased circulating IgE level, Perioral erythema, Erythroderma, Ble...	OMIM:614328
Cystic Echinococcosis	Abnormal peritoneum morphology, Hepatomegaly, Elevated hepatic transaminase, Hepatic cysts, Abnor...	ORPHA:400
Immunodeficiency, Common Variable, 12, With Autoimmunity	Atrophic gastritis, Autoimmune hemolytic anemia, Recurrent skin infections, Alopecia, Recurrent p...	OMIM:616576
Membranoproliferative Glomerulonephritis, X-Linked	Membranoproliferative glomerulonephritis, Lipodystrophy	OMIM:305800
Preeclampsia/Eclampsia 1	Elevated hepatic transaminase, Proteinuria	OMIM:189800
Congenital Bile Acid Synthesis Defect Type 2	Dark urine, Giant cell hepatitis, Hepatomegaly, Elevated hepatic transaminase, Abnormal circulati...	ORPHA:79303
Intellectual Developmental Disorder, Fra12A Type	Hyperkeratosis, Erythroderma	OMIM:136630
Cednik Syndrome	Proteinuria, Diffuse palmoplantar hyperkeratosis, Nephrotic syndrome, Hypogonadism, Ichthyosis	ORPHA:66631
Generalized Pustular Psoriasis	Hyponatremia, Elevated hepatic transaminase, Renal insufficiency, Elevated circulating C-reactive...	ORPHA:247353
Palmoplantar Keratoderma And Congenital Alopecia 2	Alopecia totalis, Camptodactyly of finger, Palmoplantar hyperkeratosis, Facial erythema, Hyperker...	OMIM:212360
Graham Little-Piccardi-Lassueur Syndrome	Sparse scalp hair, Alopecia, Sparse axillary hair, Pruritus, Sparse pubic hair, Perifollicular hy...	ORPHA:505
Spondyloenchondrodysplasia	Autoimmune hemolytic anemia, Skin rash, Pneumonia, Autoimmunity, Autoimmune thrombocytopenia, Ant...	ORPHA:1855
Brucellosis	Liver abscess, Rheumatoid factor positive, Elevated circulating C-reactive protein concentration,...	ORPHA:1304
Ichthyosis, Congenital, Autosomal Recessive 5	Parakeratosis, Palmoplantar keratoderma, Congenital nonbullous ichthyosiform erythroderma, Erythr...	OMIM:604777
Phenylketonuria	Maternal hyperphenylalaninemia, Reduced phenylalanine hydroxylase level, Elevated urinary phenylp...	OMIM:261600
Alpha-1-Antitrypsin Deficiency	Hepatomegaly, Jaundice, Hepatitis, Nephrotic syndrome, Hepatic failure	ORPHA:60
Hereditary Palmoplantar Keratoderma, Gamborg-Nielsen Type	Hyperkeratosis with erythema, Diffuse palmoplantar hyperkeratosis	ORPHA:86923
Palmoplantar Keratoderma, Punctate Type Iii	Hyperkeratosis, Acrokeratosis	OMIM:101850
Autoimmune Polyendocrinopathy Type 4	Atrophic gastritis, Antiphospholipid antibody positivity, Alopecia, Autoimmunity, Hypergonadotrop...	ORPHA:227990
Dermatoleukodystrophy	Hyperkeratosis, Thickened skin	ORPHA:1659
Autoinflammation, Immune Dysregulation, And Eosinophilia	Eosinophilic liver infiltration, Atopic dermatitis, Hepatosplenomegaly, Membranous nephropathy, N...	OMIM:618999
Ichthyosis Hystrix, Lambert Type	Hyperkeratosis, Orthokeratotic hyperkeratosis	OMIM:146600
Congenital Disorder Of Glycosylation, Type Iih	Elevated serum transaminases during infections, Elevated circulating aspartate aminotransferase c...	OMIM:611182
Dowling-Degos Disease 2	Hyperkeratotic papule, Follicular hyperkeratosis	OMIM:615327
Pyogenic Sterile Arthritis, Pyoderma Gangrenosum, And Acne	Acne, Elevated circulating C-reactive protein concentration, Elbow flexion contracture, Pyoderma ...	OMIM:604416
Beta-Thalassemia	Hepatomegaly, Hypogonadotropic hypogonadism, Splenomegaly, Hepatitis, Skin ulcer, Pallor, Abnorma...	ORPHA:848
Spastic Paraplegia-Nephritis-Deafness Syndrome	Nephropathy, Proteinuria	ORPHA:2820
Palmoplantar Keratoderma-Deafness Syndrome	Hyperkeratosis, Palmoplantar keratoderma	ORPHA:2202
Lupus Erythematosus Tumidus	Deep dermal perivascular inflammatory infiltrate, Scarring, Antinuclear antibody positivity, Auto...	ORPHA:90283
Systemic Lupus Erythematosus	Alopecia, Proteinuria, Lupus nephritis, Pyuria, Discoid lupus rash, Antinuclear antibody positivi...	ORPHA:536
Dystrophic Epidermolysis Bullosa Pruriginosa	Scarring, Pruritus, Increased circulating IgE level, Hyperkeratosis, Atrophic scars, Nail dystrophy	ORPHA:89843
Fibronectin Glomerulopathy	Glomerulopathy, Renal insufficiency, Proteinuria, Nephrotic syndrome, Hypoalbuminemia, Abnormal g...	ORPHA:84090
Epidermolysis Bullosa Simplex 1C, Localized	Hyperkeratosis	OMIM:131800
Insulin Autoimmune Syndrome	Arthralgia/arthritis, Autoimmunity, Autoimmune antibody positivity, Systemic lupus erythematosus,...	ORPHA:411593
Retinal Dystrophy, Iris Coloboma, And Comedogenic Acne Syndrome	Comedonal acne, Decreased retinol-binding protein level, Follicular hyperkeratosis	OMIM:615147
Reni Syndrome	Diffuse mesangial sclerosis, Hypertriglyceridemia, Proteinuria, Mesangial hypercellularity, Crypt...	OMIM:617575
Oocyte/Zygote/Embryo Maturation Arrest 9	Oocyte arrest at metaphase I, Female infertility	OMIM:619011
Galactosemia I	Hepatomegaly, Premature ovarian insufficiency, Hypergonadotropic hypogonadism, Elevated circulati...	OMIM:230400
Graft Versus Host Disease	Elevated hepatic transaminase, Fasciitis, Myositis, Maculopapular exanthema, Pneumonia, Inflammat...	ORPHA:39812
Proteinuria, Low Molecular Weight, With Hypercalciuria And Nephrocalcinosis	Renal insufficiency, Hypercalciuria, Nephrocalcinosis, Focal segmental glomerulosclerosis, Glycos...	OMIM:308990
Hereditary Amyloidosis With Primary Renal Involvement	Decreased HDL cholesterol concentration, Tubulointerstitial nephritis, Nephropathy, Decreased glo...	ORPHA:85450
Autoimmune Polyendocrinopathy Type 3	Atrophic gastritis, Antiphospholipid antibody positivity, Alopecia, Autoimmunity, Hypergonadotrop...	ORPHA:227982
Hypohidrosis-Enamel Hypoplasia-Palmoplantar Keratoderma-Intellectual Disability Syndrome	Hepatitis, Palmoplantar hyperkeratosis, Hypohidrosis, Enamel hypoplasia, Sparse lateral eyebrow	ORPHA:363523
Focal Segmental Glomerulosclerosis 1	Proteinuria, Hyperlipidemia, Stage 5 chronic kidney disease, Focal segmental glomerulosclerosis, ...	OMIM:603278
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency	Inflammatory abnormality of the skin, Sinusitis, Autoimmunity, Anti-thyroid peroxidase antibody p...	ORPHA:277
Ichthyosis, Congenital, Autosomal Recessive 9	Hypergranulosis, Hypohidrosis, Hyperkeratosis, Congenital nonbullous ichthyosiform erythroderma, ...	OMIM:615023
Interstitial Granulomatous Dermatitis With Arthritis	Inflammatory abnormality of the skin, Rheumatoid factor positive, Elevated circulating C-reactive...	ORPHA:79099
Epidermolysis Bullosa Dystrophica, Pretibial	Pruritus, Hyperkeratosis, Atrophic scars, Nail dystrophy	OMIM:131850
Legionnaires Disease	Hyponatremia, Pericarditis, Renal insufficiency, Proteinuria, Myocarditis, Splenomegaly, Jaundice...	ORPHA:549
Nephrotic Syndrome, Type 17	Proteinuria, Stage 5 chronic kidney disease, Focal segmental glomerulosclerosis, Microscopic hema...	OMIM:618176
Avian Influenza	Elevated hepatic transaminase, Miscarriage, Pneumonia, Elevated circulating creatine kinase conce...	ORPHA:454836
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency	Elevated hepatic transaminase, Hepatomegaly, Eczema, Elevated circulating creatine kinase concent...	OMIM:615895
Coenzyme Q10 Deficiency, Primary, 3	Nephrotic syndrome, Hypoalbuminemia, Proteinuria	OMIM:614652
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency	Elevated hepatic transaminase, Hepatomegaly, Proteinuria, Abnormality of the kidney, Hyperlipidem...	ORPHA:369
Ichthyosis, Congenital, Autosomal Recessive 14	Pruritus, Erythema, Hyperkeratosis, Orthokeratotic hyperkeratosis, Scaling skin, Congenital nonbu...	OMIM:617571
Dietary Iron Overload Disease	Viral hepatitis, Hepatomegaly, Hepatocellular carcinoma, Increased circulating ferritin concentra...	ORPHA:139507
Hydroa Vacciniforme	Superficial dermal perivascular inflammatory infiltrate, Eczema, Scarring, Keratitis, Erythema, P...	ORPHA:330058
Syndromic Multisystem Autoimmune Disease Due To Itch Deficiency	Acute hepatic failure, Cholangitis, Autoimmunity, Portal hypertension, Hypersplenism, Anti-thyroi...	ORPHA:228426
Idiopathic Localized Lipodystrophy	Reduced subcutaneous adipose tissue, Inflammatory abnormality of the skin, Lipoatrophy, Pruritus,...	ORPHA:90158
Heme Oxygenase 1 Deficiency	Hepatomegaly, Increased circulating interleukin 6 concentration, Proteinuria, Elevated circulatin...	OMIM:614034
Immunodeficiency 50	Recurrent urinary tract infections, Eczema, Decreased circulating antibody level	OMIM:300988
Immunodeficiency 85 And Autoimmunity	Eczema, Oligoarthritis, Decreased circulating total IgM, Decreased circulating IgE, Erythroderma,...	OMIM:619510
Immunodeficiency 107, Susceptibility To Invasive Staphylococcus Aureus Infection	Chronic furunculosis, Pyoderma gangrenosum, Cutaneous abscess	OMIM:619986
Drug-Induced Lupus Erythematosus	Pericarditis, Elevated circulating creatine kinase concentration, Elevated circulating C-reactive...	ORPHA:231111
Oocyte/Zygote/Embryo Maturation Arrest 2	Oocyte arrest at metaphase I, Female infertility	OMIM:616780
Oocyte/Zygote/Embryo Maturation Arrest 4	Oocyte arrest at metaphase I, Female infertility	OMIM:617743
Mucopolysaccharidosis-Plus Syndrome	Synophrys, Flexion contracture, Low anterior hairline, Coarse hair, Hypoalbuminemia, Macrovesicul...	OMIM:617303
X-Linked Intellectual Disability-Hypogonadism-Ichthyosis-Obesity-Short Stature Syndrome	Hypoplasia of penis, Eczema, Cryptorchidism, Ichthyosis, Aplasia/Hypoplasia of the testes, Hernia...	ORPHA:3055
Hepatocellular Carcinoma	Hepatocellular carcinoma, Micronodular cirrhosis, Subacute progressive viral hepatitis	OMIM:114550
Focal Segmental Glomerulosclerosis 2	Proteinuria, Chronic kidney disease, Stage 5 chronic kidney disease, Focal segmental glomeruloscl...	OMIM:603965
Complement Factor I Deficiency	Renal insufficiency, Recurrent urinary tract infections, Recurrent skin infections, Glomeruloneph...	OMIM:610984
Oocyte/Zygote/Embryo Maturation Arrest 14	Oocyte maturation arrest, Female infertility	OMIM:620276
Oocyte/Zygote/Embryo Maturation Arrest 5	Lack of oocyte pronucleus formation, Female infertility	OMIM:617996
Autoimmune Lymphoproliferative Syndrome, Type Iia	Hepatomegaly, Autoimmune hemolytic anemia, Antiphospholipid antibody positivity, Rheumatoid facto...	OMIM:603909
Reticulate Acropigmentation Of Kitamura	Hyperkeratosis	OMIM:615537
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Intermediate Form	Plantar hyperkeratosis, Pruritus, Hyperkeratosis, Nail dystrophy, Palmar hyperkeratosis	ORPHA:79399
Focal Segmental Glomerulosclerosis 7	Proteinuria, Stage 5 chronic kidney disease, Renal hypoplasia, Focal segmental glomerulosclerosis...	OMIM:616002
Griscelli Syndrome	Abnormal eyebrow morphology, Hepatomegaly, Abnormal eyelash morphology, Silver-gray hair, Splenom...	ORPHA:381
Nephrotic Syndrome, Type 3	Diffuse mesangial sclerosis, Proteinuria, Stage 5 chronic kidney disease, Focal segmental glomeru...	OMIM:610725
Hyperkeratosis-Hyperpigmentation Syndrome	Hyperkeratosis	ORPHA:1336
Pemphigus Erythematosus	Autoimmunity, Acantholysis, Antinuclear antibody positivity, Anti-acetylcholine receptor antibody...	ORPHA:79480
Nephrotic Syndrome, Type 18	Focal segmental glomerulosclerosis, Steroid-resistant nephrotic syndrome, Proteinuria, Stage 5 ch...	OMIM:618177
Nephrotic Syndrome, Type 19	Focal segmental glomerulosclerosis, Stage 3 chronic kidney disease, Proteinuria, Steroid-resistan...	OMIM:618178
Nephrotic Syndrome, Type 20	Focal segmental glomerulosclerosis, Steroid-resistant nephrotic syndrome, Proteinuria, Stage 5 ch...	OMIM:301028
Primary Sclerosing Cholangitis	Acute hepatic failure, Uveitis, Hypoalbuminemia, Hepatic fibrosis, Neoplasm of the gallbladder, E...	ORPHA:171
Nail-Patella-Like Renal Disease	Glomerulopathy, Renal insufficiency, Microscopic hematuria, Proteinuria	ORPHA:2613
Focal Segmental Glomerulosclerosis 8	Focal segmental glomerulosclerosis, Nephrotic syndrome, Proteinuria, Stage 5 chronic kidney disease	OMIM:616032
Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome	Hepatomegaly, Hyperammonemia, Hyperornithinemia, Decreased liver function, Acute hepatitis, Homoc...	OMIM:238970
Epidermolysis Bullosa Simplex 4, Localized Or Generalized Intermediate, Autosomal Recessive	Hyperkeratosis	OMIM:615028
Alstrom Syndrome	Elevated hepatic transaminase, Decreased HDL cholesterol concentration, Alopecia, Chronic active ...	OMIM:203800
Pyoderma Gangrenosum	Myositis, Pustule, Skin ulcer, Atrophic scars, Inflammation of the large intestine, Increased cir...	ORPHA:48104
Erythrokeratoderma ''En Cocardes''	Hyperkeratosis	ORPHA:315
Sulfite Oxidase Deficiency, Isolated	Sulfocysteinuria, Death in infancy, Eczema, Elevated circulating creatine kinase concentration, I...	OMIM:272300
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema	Hepatomegaly, Increased circulating ferritin concentration, Splenomegaly, Jaundice, Hepatitis, He...	OMIM:194380
Microscopic Polyangiitis	Episcleritis, Increased inflammatory response, Pericarditis, Sinusitis, Skin rash, Autoimmunity, ...	ORPHA:727
Hypocomplementemic Urticarial Vasculitis	Episcleritis, Glomerulopathy, Renal insufficiency, Hepatomegaly, Skin rash, Autoimmunity, Protein...	ORPHA:36412
Dermatitis, Atopic	Recurrent skin infections, Allergic rhinitis, Eczema, Pruritus, Atopic dermatitis, Facial erythem...	OMIM:603165
Neonatal Lupus Erythematosus	Elevated hepatic transaminase, Hepatomegaly, Parakeratosis, Skin rash, Maculopapular exanthema, S...	ORPHA:398124
Harlequin Ichthyosis	Ichthyosis, Hyperkeratosis, Congenital ichthyosiform erythroderma, Erythroderma	ORPHA:457
Pruritic Urticarial Papules And Plaques Of Pregnancy	Parakeratosis, Pruritus, Pruritis on abdomen, Pruritus on foot, Facial erythema, Pruritis on hand...	ORPHA:64745
Non-Epidermolytic Palmoplantar Keratoderma	Pruritus, Diffuse palmoplantar hyperkeratosis, Erythema, Skin ulcer	ORPHA:2337
Sjögren-Larsson Syndrome	Abnormal dental enamel morphology, Erythema, Hyperkeratosis, Ichthyosis, Dry skin, Inflammatory a...	ORPHA:816
Proteasome-Associated Autoinflammatory Syndrome 2	Neutrophilic infiltration of the skin, Skin rash, Lipodystrophy, Elevated circulating C-reactive ...	OMIM:618048
Wilson Disease	Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Abnormality of the menstrual ...	ORPHA:905
Combined Immunodeficiency Due To Dock8 Deficiency	Recurrent bacterial skin infections, Pneumonia, Increased circulating IgE level, Atopic dermatiti...	ORPHA:217390
Gastrointestinal Defects And Immunodeficiency Syndrome 1	Omphalocele, Death in infancy, Autoimmune hemolytic anemia, Psoriasiform dermatitis, Autoimmunity...	OMIM:243150
Acne Inversa, Familial, 2, With Or Without Dowling-Degos Disease	Recurrent cutaneous abscess formation, Perifolliculitis, Chronic furunculosis, Follicular hyperke...	OMIM:613736
Carnitine Palmitoyl Transferase Ii Deficiency, Myopathic Form	Renal insufficiency, Elevated circulating creatine kinase concentration, Elevated circulating acy...	ORPHA:228302
T-Cell Immunodeficiency With Thymic Aplasia	Recurrent urinary tract infections, Sinusitis, Pneumonia, Autoimmunity, Hypocalcemic tetany, Atyp...	ORPHA:83471
Iga Nephropathy, Susceptibility To, 3	Proteinuria, Mesangial hypercellularity, Stage 5 chronic kidney disease, Hematuria, IgA depositio...	OMIM:616818
Hyperkeratosis Lenticularis Perstans	Hyperkeratosis lenticularis perstans	OMIM:144150
Premature Ovarian Failure 19	Secondary amenorrhea, Premature ovarian insufficiency, Irregular menstruation, Female infertility	OMIM:619245
Angioma Serpiginosum, Autosomal Dominant	Hyperkeratosis	OMIM:106050
Papillomatosis, Confluent And Reticulated	Hyperkeratosis	OMIM:167900
Bile Acid Synthesis Defect, Congenital, 3	Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Hepatic bridging fib...	OMIM:613812
Maternally-Inherited Diabetes And Deafness	Glomerulopathy, Renal insufficiency, Abnormal circulating lipid concentration, Proteinuria	ORPHA:225
Lecithin:Cholesterol Acyltransferase Deficiency	Decreased HDL cholesterol concentration, Renal insufficiency, Hypertriglyceridemia, Proteinuria, ...	OMIM:245900
Oocyte/Zygote/Embryo Maturation Arrest 8	Female infertility	OMIM:619009
Oocyte/Zygote/Embryo Maturation Arrest 13	Female infertility	OMIM:620154
Hematuria, Benign Familial, 2	Microscopic hematuria, Proteinuria, Abnormal glomerular basement membrane morphology	OMIM:620320
Chronic Actinic Dermatitis	Late onset atopic dermatitis, Eczema, Allergic rhinitis, Pruritus, Erythroderma	ORPHA:330064
Mixed-Type Autoimmune Hemolytic Anemia	Abnormal urinary color, Autoimmune hemolytic anemia, Skin rash, Autoimmunity, Systemic lupus eryt...	ORPHA:90036
Systemic Lupus Erythematosus, Susceptibility To, 6	Pericarditis, Miscarriage, Abnormality of the kidney, Antinuclear antibody positivity, Systemic l...	OMIM:609939
Oocyte/Zygote/Embryo Maturation Arrest 12	Female infertility	OMIM:619697
Reticular Dysgenesis	Chronic otitis media, Skin rash, Skin ulcer, Decreased circulating antibody level	ORPHA:33355
Paternal Uniparental Disomy Of Chromosome 1	Anhidrosis, Membranoproliferative glomerulonephritis, Proteinuria, Hypercalcemia, Abnormal dental...	ORPHA:251004
Bare Lymphocyte Syndrome, Type Ii	Viral hepatitis, Recurrent urinary tract infections, Cholangitis, Biliary tract abnormality, Chro...	OMIM:209920
Insulin-Resistance Syndrome Type B	Alopecia, Abnormal circulating lipid concentration, Skin rash, Autoimmunity, Pneumonia, Increased...	ORPHA:2298
Quinquaud Folliculitis Decalvans	Recurrent skin infections, Scarring, Pustule, Scarring alopecia of scalp, Abnormal hair morpholog...	ORPHA:346
X-Linked Dominant Chondrodysplasia Punctata	Sparse eyelashes, Abnormal hair pattern, Sparse eyebrow, Scarring alopecia of scalp, Flexion cont...	ORPHA:35173
Myasthenia Gravis	Myositis, Anti-acetylcholine receptor antibody positivity, Anti-muscle-specific tyrosine kinase a...	ORPHA:589
Pressure-Induced Localized Lipoatrophy	Reduced subcutaneous adipose tissue, Inflammatory abnormality of the skin, Lipoatrophy, Absence o...	ORPHA:90160
Diffuse Cutaneous Mastocytosis	Hepatomegaly, Pruritus, Thickened skin, Abnormality of the spleen, Abnormality of the liver, Scal...	ORPHA:79456
Atypical Hemolytic Uremic Syndrome	Hematuria, Abnormal lactate dehydrogenase level, Acute kidney injury, Proteinuria	ORPHA:2134
Tubulointerstitial Kidney Disease, Autosomal Dominant, 4	Proteinuria, Chronic kidney disease, Renal hypoplasia, Focal segmental glomerulosclerosis, Hyperu...	OMIM:613092
Hypohidrotic Ectodermal Dysplasia With Immunodeficiency	Eczema, Autoimmunity, Abnormal immunoglobulin level, Increased circulating IgE level, Chronic muc...	ORPHA:98813
Aicardi-Goutieres Syndrome 9	Elevated hepatic transaminase, Hepatomegaly, Acute pancreatitis, Pericarditis, Renal insufficienc...	OMIM:619487
Idiopathic Steroid-Sensitive Nephrotic Syndrome With Secondary Steroid Resistance	Minimal change glomerulonephritis, Hyperlipidemia, Chronic kidney disease, Stage 5 chronic kidney...	ORPHA:567546
Actinic Prurigo	Cheilitis, Pyoderma, Glomerulonephritis	OMIM:174770
Hypertrophic Osteoarthropathy, Primary, Autosomal Recessive, 2	Acne, Seborrheic dermatitis, Thickened skin, Hyperhidrosis, Hypoalbuminemia	OMIM:614441
Premature Ovarian Failure 2B	Premature ovarian insufficiency, Primary amenorrhea, Female infertility	OMIM:300604
Focal Segmental Glomerulosclerosis 5	Focal segmental glomerulosclerosis, Microscopic hematuria, Proteinuria, Stage 5 chronic kidney di...	OMIM:613237
Atrophoderma Vermiculata	Pruritus, Erythema, Atrophic scars, Follicular hyperkeratosis, Hyperkeratotic papule	ORPHA:79100
Focal Segmental Glomerulosclerosis 3, Susceptibility To	Hematuria, Focal segmental glomerulosclerosis, Renal insufficiency, Proteinuria	OMIM:607832
Primary Sjögren Syndrome	Myositis, Chronic active hepatitis, Tubulointerstitial nephritis, Abnormality of the kidney, Bili...	ORPHA:289390
Catastrophic Antiphospholipid Syndrome	Antiphospholipid antibody positivity, Miscarriage, Abnormality of the kidney, Anticardiolipin IgG...	ORPHA:464343
Trichohepatoenteric Syndrome 2	Hepatomegaly, Brittle hair, Decreased serum iron, Chronic hepatitis, Colitis, Uncombable hair, Ci...	OMIM:614602
Wilson Disease	Acute hepatic failure, Decreased circulating ceruloplasmin concentration, Osteoarthritis, Aminoac...	OMIM:277900
Hydatidiform Mole, Recurrent, 3	Female infertility	OMIM:618431
Hydatidiform Mole, Recurrent, 4	Female infertility	OMIM:618432
Erythrokeratodermia Variabilis Et Progressiva 4	Congenital nonbullous ichthyosiform erythroderma, Hyperkeratosis, Erythema, Palmoplantar hyperker...	OMIM:617526
Acute Generalized Exanthematous Pustulosis	Elevated hepatic transaminase, Predominantly dermal neutrophilic infiltrate, Renal insufficiency,...	ORPHA:293173
Proteasome-Associated Autoinflammatory Syndrome 5	Splenomegaly, Hepatomegaly, Hypertriglyceridemia, Skin rash	OMIM:619175
Hemorrhagic Fever-Renal Syndrome	Elevated hepatic transaminase, Increased circulating interleukin 6 concentration, Anuria, Protein...	ORPHA:340
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism	Hepatomegaly, Increased circulating thyroglobulin level, Portal hypertension, Hiatus hernia, Panc...	OMIM:610199
Congenital Disorder Of Glycosylation, Type It	Elevated hepatic transaminase, Hepatomegaly, Elevated circulating creatine kinase concentration, ...	OMIM:614921
Glycogen Storage Disease Due To Lactate Dehydrogenase Deficiency	Increased serum pyruvate, Renal insufficiency, Elevated circulating creatine kinase concentration...	ORPHA:2364
Thrombotic Thrombocytopenic Purpura	Renal insufficiency, Proteinuria, Abnormal lactate dehydrogenase level, Hematuria, Decreased seru...	ORPHA:54057
Prolidase Deficiency	Hepatomegaly, Recurrent cystitis, Pruritus, Splenomegaly, Crusting erythematous dermatitis, Low a...	ORPHA:742
Congenital Disorder Of Glycosylation, Type Iq	Elevated hepatic transaminase, Eczema, Cutis laxa, Hyperkeratosis, Ichthyosis, Dry skin, Hypertri...	OMIM:612379
Epidermolytic Palmoplantar Keratoderma	Interphalangeal joint contracture of finger, Hypergranulosis, Epidermal hyperkeratosis, Diffuse p...	ORPHA:2199
Galloway-Mowat Syndrome 6	Nephrotic syndrome, Hypoalbuminemia, Focal segmental glomerulosclerosis, Proteinuria	OMIM:618347
Biotinidase Deficiency	Hepatomegaly, Alopecia, Skin rash, Recurrent skin infections, Seborrheic dermatitis, Splenomegaly...	OMIM:253260
Autoimmune Disease, Multisystem, With Facial Dysmorphism	Hepatomegaly, Autoimmunity, Portal hypertension, Hypersplenism, Splenomegaly, Hepatitis, Camptoda...	OMIM:613385
Pemphigus Vulgaris	Atypical scarring of skin, Recurrent cutaneous abscess formation, Autoimmunity, Acantholysis	ORPHA:704
Diffuse Alveolar Hemorrhage	Antiphospholipid antibody positivity, Rheumatoid factor positive, Autoimmunity, Proteinuria, Anti...	ORPHA:90060
Renal Tubular Acidosis, Distal, With Nephrocalcinosis, Short Stature, Impaired Intellectual Development, And Distinctive Facies	Proteinuria, Renal hypoplasia, Beta 2-microglobulinuria, Renal cortical hyperechogenicity, Reduce...	OMIM:611555
Bullous Diffuse Cutaneous Mastocytosis	Pruritus, Cutaneous mastocytosis, Erythroderma	ORPHA:280785
Leishmaniasis	Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Skin ulcer, Rhinitis, Hypoalbuminemia,...	ORPHA:507
Hyperprolactinemia	Menorrhagia, Oligomenorrhea, Female infertility	OMIM:615555
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome	Inflammatory abnormality of the skin, Antiphospholipid antibody positivity, Autoimmune hemolytic ...	ORPHA:391487
Hyper-Ige Syndrome 3, Autosomal Recessive, With Recurrent Infections	Alopecia, Osteomyelitis, Recurrent skin infections, Eczema, Pruritus, Recurrent pneumonia, Increa...	OMIM:618282
Nephrotic Syndrome, Type 1	Diffuse mesangial sclerosis, Renal insufficiency, Congenital nephrotic syndrome, Proteinuria, Hyp...	OMIM:256300
Oocyte/Zygote/Embryo Maturation Arrest 11	Female infertility	OMIM:619643
Oocyte/Zygote/Embryo Maturation Arrest 7	Female infertility	OMIM:618550
Oocyte/Zygote/Embryo Maturation Arrest 6	Female infertility	OMIM:618353
Progesterone Resistance	Female infertility	OMIM:264080
Oocyte/Zygote/Embryo Maturation Arrest 18	Female infertility	OMIM:620332
Oocyte/Zygote/Embryo Maturation Arrest 19	Female infertility	OMIM:620333
Oocyte/Zygote/Embryo Maturation Arrest 15	Female infertility	OMIM:616814
Oocyte/Zygote/Embryo Maturation Arrest 1	Female infertility	OMIM:615774
Oocyte/Zygote/Embryo Maturation Arrest 3	Female infertility	OMIM:617712
Chondrodysplasia Punctata 2, X-Linked Dominant	Sparse eyelashes, Sparse eyebrow, Elevated 8-dehydrocholesterol, Elevated 8(9)-cholestenol, Conge...	OMIM:302960
3-Methylcrotonyl-Coa Carboxylase 2 Deficiency	Alopecia, Acute hyperammonemia, Ketonuria, Seborrheic dermatitis, Hyperglycinuria, Hyperammonemia...	OMIM:210210
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity	Hepatomegaly, Autoimmune hemolytic anemia, Recurrent urinary tract infections, Autoimmunity, Lymp...	OMIM:618495
Immunodeficiency, Common Variable, 2	Hepatomegaly, Autoimmunity, Impaired T cell function, Splenomegaly, Recurrent pneumonia, Bronchie...	OMIM:240500
Bazex Syndrome	Parakeratosis, Pruritus, Yellow nails, Hyperkeratosis, Palmoplantar keratoderma, Scaling skin, Na...	ORPHA:166113
Lymphatic Filariasis	Proteinuria, Glomerulonephritis, Abnormality of the kidney, Orchitis, Lymphadenitis, Knee osteoar...	ORPHA:2035
Kyphoscoliotic Ehlers-Danlos Syndrome Due To Fkbp22 Deficiency	Atrophic scars, Follicular hyperkeratosis, Elevated circulating creatine kinase concentration, He...	ORPHA:300179
Caspase 8 Deficiency	Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc...	OMIM:607271
Bile Acid Synthesis Defect, Congenital, 1	Elevated hepatic transaminase, Giant cell hepatitis, Hepatomegaly, Conjugated hyperbilirubinemia,...	OMIM:607765
Poikiloderma With Neutropenia	Plantar hyperkeratosis, Skin rash, Elevated circulating creatine kinase concentration, Sparse eye...	OMIM:604173
Psoriasis 14, Pustular	Parakeratosis, Psoriasiform dermatitis, Cholangitis, Elevated circulating C-reactive protein conc...	OMIM:614204
Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis	Parakeratosis, Hepatic fibrosis, Sparse hair, Hepatomegaly, Alopecia, Portal hypertension, Sparse...	OMIM:607626
Complement Component 4B Deficiency	Recurrent otitis media, Recurrent sinusitis, Chronic active hepatitis, Recurrent pneumonia	OMIM:614379
Nephrotic Syndrome, Type 8	Diffuse mesangial sclerosis, Proteinuria, Chronic kidney disease, Stage 5 chronic kidney disease,...	OMIM:615244
Sting-Associated Vasculopathy, Infantile-Onset	Myositis, Antiphospholipid antibody positivity, Skin rash, Rheumatoid factor positive, Elevated c...	OMIM:615934
Aspergillosis	Sinusitis, Osteomyelitis, Pneumonia, Abnormality of the kidney, Keratitis, Increased circulating ...	ORPHA:1163
Transketolase Deficiency	Increased level of ribose in urine, Hepatomegaly, Seborrheic dermatitis, Renal cyst, Uveitis, Sec...	ORPHA:488618
Ifap Syndrome 1, With Or Without Bresheck Syndrome	Ichthyosis follicularis, Atrichia, Scaling skin, Death in childhood, Neonatal death, Dystrophic f...	OMIM:308205
Fanconi-Bickel Syndrome	Elevated gamma-glutamyltransferase level, Hepatomegaly, Ketonuria, Hypouricemia, Elevated circula...	OMIM:227810
Keratosis Follicularis Spinulosa Decalvans, X-Linked	Sparse eyelashes, Keratitis, Scarring alopecia of scalp, Sparse eyebrow, Facial erythema, Follicu...	OMIM:308800
Hidrotic Ectodermal Dysplasia	Absent eyebrow, Alopecia, Hypopigmentation of hair, Sparse eyelashes, Brittle scalp hair, Sparse ...	ORPHA:189
Familial Mediterranean Fever, Autosomal Dominant	Renal insufficiency, Proteinuria, Peritonitis, Renal amyloidosis, Erysipelas	OMIM:134610
Keratoderma Hereditarium Mutilans With Ichthyosis	Scaling skin on fingertip, Alopecia, Parakeratosis, Hypergranulosis, Palmoplantar hyperkeratosis,...	ORPHA:79395
Congenital Disorder Of Glycosylation, Type Im	Death in infancy, Alopecia, Inflammatory abnormality of the skin, Sparse eyelashes, Increased cir...	OMIM:610768
Spinocerebellar Ataxia 34	Epidermal hyperkeratosis, Erythroderma	OMIM:133190
Congenital Bile Acid Synthesis Defect Type 4	Elevated hepatic transaminase, Giant cell hepatitis, Abnormal circulating enzyme concentration or...	ORPHA:79095
Omenn Syndrome	Hepatomegaly, Alopecia, Pneumonia, Thickened skin, Splenomegaly, Erythroderma, Hypoproteinemia	OMIM:603554
Porphyria Cutanea Tarda, Type I	Porphyrinuria, Hepatic fibrosis, Eczema, Hypertrichosis	OMIM:176090
Nephrotic Syndrome, Type 22	Nephrotic range proteinuria, Microscopic hematuria, Stage 5 chronic kidney disease, Thickened glo...	OMIM:619155
Eosinophilic Granulomatosis With Polyangiitis	Increased inflammatory response, Myositis, Sinusitis, Skin rash, Autoimmunity, Glomerulopathy, Re...	ORPHA:183
Livedoid Vasculopathy	Superficial dermal perivascular inflammatory infiltrate, Recurrent skin infections, Autoimmunity,...	ORPHA:542643
Severe Combined Immunodeficiency, X-Linked	Hepatomegaly, Skin rash, Pneumonia, Reduced natural killer cell activity, Recurrent pneumonia, Ag...	OMIM:300400
Congenital Enterovirus Infection	Skin rash, Myocarditis, Hepatitis, Hyperammonemia, Cholestasis, Hypoalbuminemia, Hepatic failure,...	ORPHA:292
Necrobiosis Lipoidica	Inflammatory abnormality of the skin, Erythema, Skin ulcer, Atrophic scars, Abnormality of neutro...	ORPHA:542592
Elastosis Perforans Serpiginosa	Hyperkeratotic papule, Crusting erythematous dermatitis, Cutis laxa	ORPHA:79148
Erosive Pustular Dermatosis Of The Scalp	Pustule, Scarring alopecia of scalp, Erythema, Abnormal hair morphology	ORPHA:222
Immunodeficiency 102	Hepatomegaly, Increased circulating interleukin 6 concentration, Recurrent skin infections, Parti...	OMIM:301082
Olmsted Syndrome 2	Parakeratosis, Pruritus, Perioral hyperkeratosis, Cheilitis, Palmoplantar hyperkeratosis, Hyperke...	OMIM:619208
Lipoid Proteinosis Of Urbach And Wiethe	Hyperkeratosis, Thickened skin, Patchy alopecia, Scarring	OMIM:247100
Nephronophthisis 13	Global glomerulosclerosis, Proteinuria, Glomerular subepithelial immune-complex deposits, Hepatic...	OMIM:614377
Syndromic Recessive X-Linked Ichthyosis	Renal insufficiency, Unilateral renal agenesis, Cryptorchidism, Hypohidrosis, Hyperkeratosis, Hyp...	ORPHA:281090
Bile Acid Synthesis Defect, Congenital, 4	Elevated hepatic transaminase, Giant cell hepatitis, Hepatomegaly, Elevated circulating aspartate...	OMIM:214950
Dowling-Degos Disease	Penile freckling, Pruritus, Arthritis, Hyperkeratosis, Skin vesicle, Hyperkeratotic papule, Acne ...	ORPHA:79145
Goodpasture Syndrome	Anti-glomerular basement membrane-antibody positivity, Renal insufficiency, Proteinuria, Glomerul...	OMIM:233450
Congenital Disorder Of Glycosylation, Type Ia	Elevated hepatic transaminase, Death in infancy, Pericarditis, Premature ovarian insufficiency, P...	OMIM:212065
Genetic Recurrent Myoglobinuria	Dark urine, Elevated hepatic transaminase, Myositis, Renal insufficiency, Recurrent myoglobinuria...	ORPHA:99845
Late-Onset Isolated Acth Deficiency	Hyponatremia, Premature ovarian insufficiency, Hypercalcemia, Autoimmunity, Hyperkalemia, Hepatit...	ORPHA:199299
Galloway-Mowat Syndrome 5	Focal segmental glomerulosclerosis, Steroid-resistant nephrotic syndrome, Stage 5 chronic kidney ...	OMIM:617731
Subcorneal Pustular Dermatosis	Autoimmunity, Pruritus, Pustule, Erythema, Systemic lupus erythematosus, Increased circulating an...	ORPHA:48377
Rift Valley Fever	Elevated hepatic transaminase, Skin rash, Miscarriage, Jaundice, Hepatitis, Uveitis, Hematuria, I...	ORPHA:319251
Congenital Hyperinsulinism Due To Hnf4A Deficiency	Elevated hepatic transaminase, Hepatomegaly, Proteinuria, Abnormal circulating fatty-acid concent...	ORPHA:263455
Glycogen Storage Disease Vii	Elevated circulating creatine kinase concentration, Exercise-induced myoglobinuria, Jaundice, Gou...	OMIM:232800
Dent Disease	Renal insufficiency, Hyperphosphaturia, Renal hypophosphatemia, Elevated circulating creatine kin...	ORPHA:1652
Majeed Syndrome	Glomerulopathy, Inflammatory abnormality of the skin, Osteomyelitis, Acne, Proteinuria, Hepatomeg...	ORPHA:77297
Nephrolithiasis, X-Linked Recessive, With Renal Failure	Renal insufficiency, Chronic kidney disease, Hypercalciuria, Nephrolithiasis, Nephrocalcinosis, P...	OMIM:310468
Polyarteritis Nodosa	Pericarditis, Abnormality of the kidney, Elevated circulating C-reactive protein concentration, E...	ORPHA:767
Recessive X-Linked Ichthyosis	Cryptorchidism, Hypohidrosis, Hyperkeratosis, Ichthyosis, Dry skin	ORPHA:461
Olmsted Syndrome, X-Linked	Subungual hyperkeratosis, Parakeratosis, Alopecia totalis, Posterior blepharitis, Palmoplantar hy...	OMIM:300918
Congenital Nephrotic Syndrome, Finnish Type	Elevated amniotic fluid alpha-fetoprotein, Nephrotic syndrome, Proteinuria, Abnormal renal tubule...	ORPHA:839
Hyperkeratosis Lenticularis Perstans	Pruritus, Hyperkeratosis lenticularis perstans, Skin ulcer	ORPHA:409
Ichthyosis, Congenital, Autosomal Recessive 11	Curly hair, Brittle hair, Sparse eyelashes, Curly eyelashes, Pruritus, Sparse eyebrow, Hypohidros...	OMIM:602400
Lymphoproliferative Syndrome, X-Linked, 1	Hepatomegaly, Dysgammaglobulinemia, Elevated circulating C-reactive protein concentration, Reduce...	OMIM:308240
Myh9-Related Disease	Elevated hepatic transaminase, Renal insufficiency, Proteinuria, Menorrhagia, Nephropathy, Nephritis	ORPHA:182050
Mitochondrial Trifunctional Protein Deficiency 2	Death in infancy, Increased circulating NT-proBNP concentration, Recurrent myoglobinuria, Elevate...	OMIM:620300
Mccune-Albright Syndrome	Hyperplasia of the Leydig cells, Hyperphosphaturia, Irregular menstruation, Hepatitis, Decreased ...	ORPHA:562
Coenzyme Q10 Deficiency, Primary, 1	Proteinuria, Recurrent myoglobinuria, Elevated circulating creatine kinase concentration, Hypergo...	OMIM:607426
Peeling Skin With Leukonychia, Acral Punctate Keratoses, Cheilitis, And Knuckle Pads	Angular cheilitis, Acantholysis, Pruritus, Punctate palmoplantar hyperkeratosis, Cheilitis, Leuko...	OMIM:616295
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia	Atrophic gastritis, Chronic active hepatitis, Alopecia, Premature ovarian insufficiency, Female h...	OMIM:240300
Immunodeficiency 56	Cholangitis, Recurrent pneumonia, Bronchiectasis, Recurrent sinusitis, Chronic hepatitis due to c...	OMIM:615207
Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency	Hepatomegaly, Atrophic gastritis, Psoriasiform dermatitis, Autoimmune hemolytic anemia, Eczema, P...	ORPHA:436159
Relapsing Polychondritis	Episcleritis, Glomerulopathy, Pericarditis, Alopecia, Renal insufficiency, Chondritis of pinna, P...	ORPHA:728
Granulomatosis With Polyangiitis	Increased inflammatory response, Pericarditis, Sinusitis, Skin rash, Autoimmunity, Elevated circu...	ORPHA:900
Angioma Serpiginosum, X-Linked	Sparse hair, Hyperkeratosis, Nail dystrophy, Fine hair	OMIM:300652
Proteus Syndrome	Lipoma, Multiple lipomas, Hyperkeratosis, Splenomegaly	OMIM:176920
Developmental Delay With Short Stature, Dysmorphic Facial Features, And Sparse Hair 1	Sparse scalp hair, Death in infancy, Sparse eyelashes, Proteinuria, Sparse eyebrow, Hematuria, Tu...	OMIM:616901
Juvenile Dermatomyositis	Calcinosis, Myositis, Pericarditis, Skin rash, Autoimmunity, Alopecia, Elevated circulating creat...	ORPHA:93672
Uremic Pruritus	Inflammatory abnormality of the skin, Recurrent skin infections, Hypercalcemia, Renal hypophospha...	ORPHA:94059
Moynahan Syndrome	Sparse hair, Hyperkeratosis, Alopecia, Hypogonadism	ORPHA:2574
Autosomal Dominant Hyper-Ige Syndrome	Osteomyelitis, Skin rash, Eczema, Pruritus, Abnormal hair morphology, Increased circulating IgE l...	ORPHA:2314
Hypohidrotic Ectodermal Dysplasia	Abnormal hair quantity, Sinusitis, Slow-growing hair, Eczema, Hypohidrosis, Aplasia/Hypoplasia of...	ORPHA:238468
Female Infertility Due To Oocyte Meiotic Arrest	Abnormal spermatogenesis, Oocyte arrest at metaphase I, Abnormal meiosis, Female infertility	ORPHA:488191
Cardiomyopathy, Dilated, With Woolly Hair, Keratoderma, And Tooth Agenesis	Parakeratosis, Pruritus, Erythema, Leukonychia, Hyperkeratosis, Palmoplantar keratoderma, Nail dy...	OMIM:615821
Combined Immunodeficiency-Enteropathy Spectrum	Omphalocele, Absent eyebrow, Autoimmune hemolytic anemia, Psoriasiform dermatitis, Autoimmunity, ...	ORPHA:436252
Hepatitis, Fulminant Viral, Susceptibility To	Elevated hepatic transaminase, Hepatomegaly, Fulminant hepatitis, Jaundice, Hepatic failure, Hash...	OMIM:618549
Carnitine Palmitoyltransferase Ii Deficiency	Hepatomegaly, Elevated circulating creatine kinase concentration, Elevated circulating acylcarnit...	ORPHA:157
Cholestasis-Lymphedema Syndrome	Elevated hepatic transaminase, Hepatomegaly, Conjugated hyperbilirubinemia, Splenomegaly, Hyperli...	OMIM:214900
Ichthyosis, Spastic Quadriplegia, And Impaired Intellectual Development	Inguinal hernia, Erythema, Death in childhood, Hyperkeratosis, Scaling skin, Congenital nonbullou...	OMIM:614457
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Severe Form	Urethral stricture, Renal insufficiency, Foot joint contracture, Recurrent skin infections, Glome...	ORPHA:79408
Poikiloderma, Hereditary Fibrosing, With Tendon Contractures, Myopathy, And Pulmonary Fibrosis	Hepatomegaly, Alopecia, Sparse eyelashes, Elevated circulating creatine kinase concentration, Spa...	OMIM:615704
Coenzyme Q10 Deficiency, Primary, 6	Diffuse mesangial sclerosis, Proteinuria, Stage 5 chronic kidney disease, Nephrolithiasis, Focal ...	OMIM:614650
Isolated Sedoheptulokinase Deficiency	Inguinal hernia, Renal insufficiency, Portal hypertension, Flexion contracture, Hepatitis, Choles...	ORPHA:440713
Glycogen Storage Disease Xi	Increased serum pyruvate, Myoglobinuria, Renal insufficiency, Elevated circulating creatine kinas...	OMIM:612933
Igg4-Related Aortitis	Increased inflammatory response, Autoimmunity, Elevated circulating C-reactive protein concentrat...	ORPHA:449400
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency	Elevated hepatic transaminase, Hepatomegaly, Autoimmune hemolytic anemia, Skin rash, Autoimmunity...	ORPHA:331206
Myoglobinuria, Acute Recurrent, Autosomal Recessive	Elevated circulating creatine kinase concentration, Hyperkalemia, Increased circulating lactate d...	OMIM:268200
Pseudo-Torch Syndrome 3	Death in infancy, Proteinuria, Lymphadenitis, Increased circulating ferritin concentration, Acute...	OMIM:618886
Copper Deficiency, Familial Benign	Curly hair, Decreased circulating copper concentration, Early balding, Seborrheic dermatitis	OMIM:121270
Bullous Impetigo	Recurrent bacterial skin infections, Glomerulopathy, Pustule, Erythema, Septic arthritis	ORPHA:36237
Xfe Progeroid Syndrome	Elevated hepatic transaminase, Renal insufficiency, Premature ovarian insufficiency, Proteinuria,...	OMIM:610965
Malakoplakia	Inflammatory abnormality of the skin, Skin rash, Dysuria, Proteinuria, Abnormality of the menstru...	ORPHA:556
Systemic-Onset Juvenile Idiopathic Arthritis	Anterior uveitis, Pericarditis, Hepatomegaly, Skin rash, Autoimmunity, Elevated circulating C-rea...	ORPHA:85414
Hypertrophic Osteoarthropathy, Primary, Autosomal Dominant	Acne, Seborrheic dermatitis, Thickened skin, Hyperhidrosis, Elevated urinary prostaglandin E2 level	OMIM:167100
Carnitine Palmitoyl Transferase Ii Deficiency, Severe Infantile Form	Elevated hepatic transaminase, Hepatomegaly, Elevated circulating creatine kinase concentration, ...	ORPHA:228305
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation	Hepatomegaly, Atrophic gastritis, Psoriasiform dermatitis, Autoimmune hemolytic anemia, Eczema, A...	OMIM:616100
Lcat Deficiency	Decreased circulating apolipoprotein A-I concentration, Decreased HDL cholesterol concentration, ...	ORPHA:650
Agammaglobulinemia, X-Linked	Recurrent urinary tract infections, Enteroviral hepatitis, Prostatitis, Epididymitis, Recurrent p...	OMIM:300755
Congenital Muscular Dystrophy-Respiratory Failure-Skin Abnormalities-Joint Hyperlaxity Syndrome	Multiple joint contractures, Cryptorchidism, Follicular hyperkeratosis, Dry skin, Mildly elevated...	ORPHA:486815
Hypotrichosis 6	Brittle hair, Sparse eyelashes, Pruritus, Sparse eyebrow, Erythema, Follicular hyperkeratosis, Sp...	OMIM:607903
Erythrokeratodermia Variabilis Et Progressiva 6	Pruritus, Parakeratosis, Superficial dermal perivascular inflammatory infiltrate	OMIM:618531
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of	Death in infancy, Necrotizing enterocolitis, Dicarboxylic aciduria, Hepatomegaly, Elevated circul...	OMIM:201475
Pili Torti-Onychodysplasia Syndrome	Absent eyebrow, Alopecia, Brittle hair, Eczema, Absent eyelashes, Generalized keratosis follicula...	ORPHA:2890
Hemophagocytic Lymphohistiocytosis, Familial, 4	Hepatomegaly, Hypertriglyceridemia, Skin rash, Increased circulating ferritin concentration, Sple...	OMIM:603552
Diffuse Cutaneous Systemic Sclerosis	Dyspareunia, Renal insufficiency, Autoimmunity, Flexion contracture, Oliguria, Skin ulcer, Arthritis	ORPHA:220393
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form	Hepatomegaly, Renal insufficiency, Dicarboxylic aciduria, Elevated circulating creatine kinase co...	ORPHA:228308
Immunoskeletal Dysplasia With Neurodevelopmental Abnormalities	Decreased circulating antibody level, Death in infancy, Hepatic cysts, Erythroderma	OMIM:617425
Psoriasis 2	Hyperkeratosis, Parakeratosis, Psoriasiform dermatitis, Scaling skin	OMIM:602723
Immunodeficiency 97 With Autoinflammation	Autoimmune hemolytic anemia, Hypertriglyceridemia, Recurrent skin infections, Eczema, Recurrent u...	OMIM:619802
Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia	Increased circulating lactate dehydrogenase concentration, Autoimmunity, Eczema, Recurrent pneumo...	OMIM:617780
Autosomal Dominant Polycystic Kidney Disease	Renal insufficiency, Recurrent urinary tract infections, Polycystic liver disease, Hepatic cysts,...	ORPHA:730
Lipoid Proteinosis	Acne, Scarring, Pustule, Thickened skin, Hyperkeratosis, Alopecia of scalp	ORPHA:530
Intrahepatic Cholestasis Of Pregnancy	Elevated hepatic transaminase, Skin rash, Autoimmunity, Pruritus, Abnormality of the pancreas, Pr...	ORPHA:69665
Werner Syndrome	Sparse scalp hair, Renal neoplasm, Lipoatrophy, Lipodystrophy, Miscarriage, Abnormal hair whorl, ...	ORPHA:902
Severe Combined Immunodeficiency Due To Dclre1C Deficiency	Skin rash, Autoimmunity, Recurrent aphthous stomatitis, Otitis media, Chronic oral candidiasis, D...	ORPHA:275
Agammaglobulinemia 9, Autosomal Recessive	Agammaglobulinemia, Eczematoid dermatitis, Seborrheic dermatitis	OMIM:619693
Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia	Recurrent urinary tract infections, Sinusitis, Pneumonia, Enteroviral hepatitis, Prostatitis, Epi...	OMIM:307200
Mutilating Hereditary Sensory Neuropathy With Spastic Paraplegia	Foot osteomyelitis, Acral ulceration, Skin ulcer	ORPHA:139578
Immunodeficiency, Developmental Delay, And Hypohomocysteinemia	Recurrent skin infections, Decreased circulating antibody level, Hypocystinemia, Decreased serum ...	OMIM:617744
Cocaine Intoxication	Proteinuria, Glomerulonephritis, Elevated circulating creatine kinase concentration, Hyperhidrosi...	ORPHA:90068
Hyper-Ige Syndrome 1, Autosomal Dominant, With Recurrent Infections	Skin rash, Recurrent pneumonia, Increased circulating IgE level, Erythema, Chronic mucocutaneous ...	OMIM:147060
Pigmentary Disorder, Reticulate, With Systemic Manifestations, X-Linked	Urethral stricture, Increased circulating interleukin 8 concentration, Recurrent pneumonia, Bronc...	OMIM:301220
Hypertrophic Osteoarthropathy, Primary, Autosomal Recessive, 1	Redundant skin, Seborrheic dermatitis, Erythema, Palmoplantar hyperkeratosis, Hyperhidrosis, Arth...	OMIM:259100
Free Sialic Acid Storage Disease	Hepatomegaly, Proteinuria, Splenomegaly, Skin ulcer, Nephrotic syndrome	ORPHA:834
Mednik Syndrome	Decreased circulating ceruloplasmin concentration, Decreased circulating copper concentration, In...	ORPHA:171851
Peeling Skin Syndrome 6	Parakeratosis, Pruritus, Atopic dermatitis, Scaling skin, Orthokeratosis, Dry skin	OMIM:618084
Flynn-Aird Syndrome	Hyperkeratosis, Alopecia, Alopecia of scalp	OMIM:136300
Neuropathy, Hereditary Sensory, Type If	Hyperkeratosis, Osteomyelitis	OMIM:615632
Hereditary Sensory And Autonomic Neuropathy Type 1	Hyperkeratosis, Osteomyelitis, Penetrating foot ulcers, Skin ulcer	ORPHA:36386
Pachydermoperiostosis	Abnormal hair quantity, Hepatomegaly, Osteomyelitis, Acne, Abnormal hair pattern, Seborrheic derm...	ORPHA:2796
Atherosclerosis-Deafness-Diabetes-Epilepsy-Nephropathy Syndrome	Nephropathy, Nephrotic syndrome, Proteinuria, Cryptorchidism	ORPHA:1192
Keratoderma Hereditarium Mutilans	Alopecia, Hypogonadotropic hypogonadism, Honeycomb palmoplantar hyperkeratosis, Hyperkeratosis, I...	ORPHA:494
Alport Syndrome	Glomerular C3 deposition, Renal insufficiency, Glomerular basement membrane lamellation, IgA depo...	ORPHA:63
Leukocyte Adhesion Deficiency	Sinusitis, Severe periodontitis, Conjunctivitis, Otitis media, Vaginitis, Perianal abscess, Hemol...	ORPHA:2968
Glycogen Storage Disease X	Myoglobinuria, Renal insufficiency, Elevated circulating creatine kinase concentration	OMIM:261670
Overlap Myositis	Elevated hepatic transaminase, Autoimmunity, Elevated circulating creatine kinase concentration, ...	ORPHA:206572
Olmsted Syndrome 1	Subungual hyperkeratosis, Parakeratosis, Pruritus, Flexion contracture, Periorificial hyperkerato...	OMIM:614594
Distal 16P11.2 Microdeletion Syndrome	Renal agenesis, Abnormality of the kidney, Proteinuria, Chronic kidney disease, Low anterior hair...	ORPHA:261222
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations	Skin rash, Pneumonia, Proteinuria, Nodular regenerative hyperplasia of liver, Elevated circulatin...	ORPHA:247691
Aicardi-Goutieres Syndrome 7	Hepatomegaly, Atrophic gastritis, Skin rash, Pneumonia, Chilblains, Increased circulating ferriti...	OMIM:615846
Calciphylaxis	Stage 5 chronic kidney disease, Abnormality of skin physiology, Skin ulcer, Hyperphosphatemia, Ce...	ORPHA:280062
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis	Hepatomegaly, Osteomyelitis, Skin rash, Elevated circulating C-reactive protein concentration, Pu...	OMIM:612852
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency	Elevated hepatic transaminase, Hepatomegaly, Abnormal circulating enzyme concentration or activit...	ORPHA:264580
Myoglobinuria, Autosomal Dominant	Myoglobinuria, Acute kidney injury, Elevated circulating creatine kinase concentration	OMIM:160010
Reynolds Syndrome	Hepatomegaly, Skin rash, Pruritus, Jaundice, Skin ulcer, Arthritis, Keratoconjunctivitis sicca, C...	ORPHA:779
Noonan Syndrome 8	Curly hair, Eczema, Cryptorchidism, Hyperkeratosis, Palmoplantar cutis laxa	OMIM:615355
Vexas Syndrome	Inflammatory abnormality of the skin, Neutrophilic infiltration of the skin, Chondritis of pinna,...	OMIM:301054
Melioidosis	Foot osteomyelitis, Unusual skin infection, Liver abscess, Pneumonia, Abnormality of the spleen, ...	ORPHA:31202
Seborrhea-Like Dermatitis With Psoriasiform Elements	Hyperkeratosis, Seborrheic dermatitis	OMIM:610227
Multicentric Carpotarsal Osteolysis Syndrome	Renal insufficiency, Proteinuria, Congenital diaphragmatic hernia, Stage 5 chronic kidney disease...	OMIM:166300
B4Galt1-Cdg	Elevated hepatic transaminase, Hepatomegaly, Inflammatory abnormality of the skin, Redundant neck...	ORPHA:79332
Irida Syndrome	Decreased circulating copper concentration, Intrahepatic cholestasis, Hyperkeratosis, Pallor, Ich...	ORPHA:209981
Adenine Phosphoribosyltransferase Deficiency	Abnormal circulating enzyme concentration or activity, Renal insufficiency, Recurrent urinary tra...	ORPHA:976
Selective Igm Deficiency	Fasciitis, Lymphadenitis, Paraproteinemia, Recurrent cutaneous fungal infections, Otitis media, R...	ORPHA:331235
Ectodermal Dysplasia 15, Hypohidrotic/Hair Type	Sparse scalp hair, Sparse eyelashes, Eczema, Slow-growing hair, Pruritus, Hypohidrosis, Palmoplan...	OMIM:618535
Trichothiodystrophy	Congenital exfoliative erythroderma, Sparse scalp hair, Multiple joint contractures, Brittle hair...	ORPHA:33364
Ddost-Cdg	Elevated hepatic transaminase, Lipodystrophy, Nephrotic range proteinuria, Dry skin, Hepatic stea...	ORPHA:300536
Aa Amyloidosis	Hepatomegaly, Proteinuria, Abnormality of the kidney, Chronic kidney disease, Cholestasis, Nephro...	ORPHA:85445
Ectodermal Dysplasia-Syndactyly Syndrome 2	Hyperhidrosis, Palmoplantar keratoderma, Follicular hyperkeratosis, Congenital bullous ichthyosif...	OMIM:613576
Acral Peeling Skin Syndrome	Eczema, Erythema, Scaling skin, Ichthyosis, Excessive wrinkling of palmar skin	ORPHA:263534
Oocyte/Zygote/Embryo Maturation Arrest 17	Female infertility, Amenorrhea	OMIM:620319
Oocyte/Zygote/Embryo Maturation Arrest 20	Female infertility, Amenorrhea	OMIM:620383
Acquired Purpura Fulminans	Skin rash, Elevated circulating C-reactive protein concentration, Pyoderma gangrenosum, Macular p...	ORPHA:49566
Dermatofibrosarcoma Protuberans	Thickened skin, Erythema, Skin ulcer	ORPHA:31112
Nail-Patella Syndrome	Renal insufficiency, Proteinuria, Glomerulonephritis, Hematuria, Nephrotic syndrome	OMIM:161200
Aicardi-Goutieres Syndrome 5	Chilblains, Flexion contracture, Increased circulating interferon-gamma concentration, Scaling sk...	OMIM:612952
Fanconi Renotubular Syndrome 5	Proteinuria, Stage 5 chronic kidney disease, Hypophosphatemia, Aminoaciduria, Glycosuria, Hypopho...	OMIM:618913
Linear Verrucous Nevus Syndrome	Hyperkeratosis, Sparse scalp hair, Abnormality of the kidney, Hypophosphatemia	ORPHA:2611
Ectodermal Dysplasia 12, Hypohidrotic/Hair/Tooth/Nail Type	Subungual hyperkeratosis, Eczema, Trichorrhexis nodosa, Scarring alopecia of scalp, Hypoplastic s...	OMIM:617337
Lichen Planus Pemphigoides	Pruritus, Hyperkeratosis, Conjunctivitis, Skin vesicle, Blepharitis	ORPHA:254478
Fanconi Renotubular Syndrome 1	Impaired renal tubular reabsorption of phosphate, Renal insufficiency, Hyperphosphaturia, Lactica...	OMIM:134600
Mpdu1-Cdg	Abnormal circulating enzyme concentration or activity, Eczema, Elevated circulating creatine kina...	ORPHA:79323
Ichthyosis-Alopecia-Eclabion-Ectropion-Intellectual Disability Syndrome	Congenital alopecia totalis, Sparse eyebrow, Dry skin, Absent pubic hair, Cutis laxa, Hypogonadis...	ORPHA:2269
Limited Cutaneous Systemic Sclerosis	Joint contracture of the hand, Foot joint contracture, Autoimmunity, Skin ulcer	ORPHA:220402
Chondroitin-6-Sulfaturia, Defective Cellular Immunity, Nephrotic Syndrome	Proteinuria, Macronodular cirrhosis, Nephrotic syndrome, Mucopolysacchariduria, Decreased circula...	OMIM:215250
Sporadic Pheochromocytoma/Secreting Paraganglioma	Proteinuria, Hypercalcemia, Elevated urinary norepinephrine level, Episodic hyperhidrosis, Elevat...	ORPHA:276621
Ige Responsiveness, Atopic	Increased circulating IgE level, Eczema, Allergic rhinitis	OMIM:147050
Glycogen Storage Disease Ia	Elevated hepatic transaminase, Hepatomegaly, Proteinuria, Hyperlipidemia, Nephrolithiasis, Gout, ...	OMIM:232200
Juvenile Hyaline Fibromatosis	Abnormal hair morphology, Death in infancy, Progressive flexion contractures, Skin ulcer	ORPHA:2028
Immunodeficiency 105	Skin rash, Decreased circulating antibody level, Hepatosplenomegaly, Decreased circulating total ...	OMIM:619924
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency	Diffuse mesangial sclerosis, Absent specific antibody response, Inflammatory abnormality of the s...	OMIM:102700
Familial Peripheral Male-Limited Precocious Puberty	Male infertility, Acne, Abnormal hair morphology, Long penis, Oligozoospermia, Macroorchidism	ORPHA:3000
Renal Hypoplasia, Bilateral	Hyponatremia, Proteinuria, Cryptorchidism, Chronic kidney disease, Hyperkalemia, Renal hypoplasia...	ORPHA:97362
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency	Elevated hepatic transaminase, Hepatomegaly, Abnormal circulating enzyme concentration or activit...	ORPHA:79240
Vulvovaginal Gingival Syndrome	Pruritus, Parakeratosis, Erythema, Abnormality of tumor necrosis factor secretion	ORPHA:83453
Cystinosis	Renal insufficiency, Proteinuria, Portal hypertension, Renal tubular dysfunction, Hypokalemia, Am...	ORPHA:213
Mu-Heavy Chain Disease	Hepatomegaly, Bence Jones Proteinuria, Splenomegaly, Increased circulating antibody level, Nephro...	ORPHA:100024
Glycogen Storage Disease V	Dark urine, Hyperuricemia, Myoglobinuria, Elevated circulating creatine kinase concentration	OMIM:232600
Becker Muscular Dystrophy	Elevated hepatic transaminase, Abnormal urinary color, Myoglobinuria, Elevated circulating creati...	ORPHA:98895
Beta-Thalassemia Intermedia	Hepatomegaly, Hepatocellular carcinoma, Splenomegaly, Jaundice, Skin ulcer, Hepatosplenomegaly, A...	ORPHA:231222
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders	Proteinuria, Thick hair, Heparan sulfate excretion in urine, Thickened skin, Flexion contracture,...	ORPHA:505248
Glycogen Storage Disease Ib	Elevated hepatic transaminase, Hepatomegaly, Proteinuria, Pancreatic fibrosis, Splenomegaly, Hype...	OMIM:232220
Fanconi Renotubular Syndrome 2	Renal insufficiency, Proteinuria, Generalized aminoaciduria, Hypercalciuria, Renal phosphate wast...	OMIM:613388
Schopf-Schulz-Passarge Syndrome	Hyperkeratosis, Palmoplantar keratoderma, Nail dystrophy, Sparse hair, Dry skin, Sparse body hair	OMIM:224750
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young	Elevated hepatic transaminase, Hepatomegaly, Hyperphosphaturia, Proteinuria, Hypouricemia, Nephro...	OMIM:616026
Ebola Hemorrhagic Fever	Acute pancreatitis, Maculopapular exanthema, Hepatitis, Increased circulating antibody level	ORPHA:319218
Kawasaki Disease	Pericarditis, Abnormality of nail color, Skin rash, Proteinuria, Myocarditis, Jaundice, Hepatitis...	ORPHA:2331
Neurodevelopmental Disorder With Microcephaly, Seizures, And Neonatal Cholestasis	Elevated circulating aspartate aminotransferase concentration, Bilateral cryptorchidism, Intrahep...	OMIM:619685
Cortisone Reductase Deficiency 1	Alopecia, Acne, Infertility, Oligomenorrhea, Hirsutism	OMIM:604931
Refractory Celiac Disease	Elevated hepatic transaminase, Inflammatory abnormality of the skin, Elevated alkaline phosphatas...	ORPHA:398063
Alport Syndrome 2, Autosomal Recessive	Renal insufficiency, Glomerular basement membrane lamellation, Proteinuria, Stage 5 chronic kidne...	OMIM:203780
Immunoglobulin A Vasculitis	Episcleritis, Glomerulopathy, Renal insufficiency, Skin rash, Proteinuria, Orchitis, Pustule, Ery...	ORPHA:761
Autosomal Erythropoietic Protoporphyria	Eczema, Pruritus, Abnormal circulating porphyrin concentration, Erythema, Decreased liver functio...	ORPHA:79278
Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia	Hepatomegaly, Recurrent urinary tract infections, Recurrent skin infections, Splenomegaly, Decrea...	OMIM:620210
Cole Disease	Hypergranulosis, Punctate palmoplantar hyperkeratosis, Hyperkeratosis, Palmoplantar keratoderma, ...	OMIM:615522
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency	Hypertriglyceridemia, Hepatitis, Cholestasis, Increased LDL cholesterol concentration, Acute hepa...	ORPHA:209902
Stuve-Wiedemann Syndrome 2	Eczema, Death in adolescence, Stillbirth, Camptodactyly, Neonatal death	OMIM:619751
Ichthyosis, Congenital, Autosomal Recessive 2	Anhidrosis, Alopecia, Hypergranulosis, Abnormal hair morphology, Erythema, Hypohidrosis, Hyperker...	OMIM:242100
Glycogen Storage Disease Due To Muscle Glycogen Phosphorylase Deficiency	Dark urine, Recurrent myoglobinuria, Elevated circulating creatine kinase concentration, Exercise...	ORPHA:368
Immunodeficiency 82 With Systemic Inflammation	Osteomyelitis, Skin rash, Pneumonia, Recurrent skin infections, Gastritis, Elevated circulating C...	OMIM:619381
Immunodeficiency 81	Recurrent cutaneous abscess formation, Autoimmune hemolytic anemia, Skin rash, Reduced natural ki...	OMIM:619374
Congenital Isolated Acth Deficiency	Hyponatremia, Hyperkalemia, Hepatitis, Prolonged neonatal jaundice	ORPHA:199296
Microsporidiosis	Myositis, Sinusitis, Cholangitis, Lymphadenitis, Abnormality of the spleen, Abnormality of the ur...	ORPHA:2552
Nephropathy-Deafness-Hyperparathyroidism Syndrome	Glomerulopathy, Renal insufficiency, Proteinuria, Hypercalcemia	ORPHA:2668
Renal Cysts And Diabetes Syndrome	Renal cyst, Pancreatic hypoplasia, Hypospadias, Abnormality of the kidney, Abnormality of alkalin...	OMIM:137920
Al Amyloidosis	Hepatomegaly, Renal insufficiency, Increased circulating NT-proBNP concentration, Proteinuria, Ab...	ORPHA:85443
Autosomal Dominant Severe Congenital Neutropenia	Recurrent skin infections, Pneumonia, Pyoderma gangrenosum, Rhinitis, Periodontitis, Recurrent ap...	ORPHA:486
Familial Cold Autoinflammatory Syndrome 2	Skin rash, Elevated circulating C-reactive protein concentration, Erythema nodosum, Splenomegaly,...	OMIM:611762
Autoimmune Disease, Multisystem, Infantile-Onset, 1	Autoimmune hemolytic anemia, Autoimmunity, Eczema, Autoimmune thrombocytopenia, Neutropenia in pr...	OMIM:615952
Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome	Elevated hepatic transaminase, Hepatomegaly, Hepatitis, Hyperammonemia, Hyperornithinemia, Decrea...	ORPHA:415
Gaucher Disease	Death in infancy, Hepatomegaly, Osteomyelitis, Proteinuria, Elevated circulating C-reactive prote...	ORPHA:355
Dominant Beta-Thalassemia	Hepatocellular carcinoma, Hypersplenism, Splenomegaly, Jaundice, Skin ulcer, Chronic hepatitis, H...	ORPHA:231226
Galloway-Mowat Syndrome 4	Diffuse mesangial sclerosis, Congenital nephrotic syndrome, Proteinuria, Stage 5 chronic kidney d...	OMIM:617730
Muckle-Wells Syndrome	Episcleritis, Hepatomegaly, Skin rash, Camptodactyly of finger, Splenomegaly, Uveitis, Arthritis,...	ORPHA:575
Juvenile Arthritis	Antinuclear antibody positivity, Skin rash	OMIM:618795
Frasier Syndrome	Glomerulopathy, Renal insufficiency, Streak ovary, Proteinuria, Hypergonadotropic hypogonadism, P...	ORPHA:347
Sialidosis Type 1	Urinary excretion of sialylated oligosaccharides, Increased urinary O-linked sialopeptides, Splen...	ORPHA:812
Immunodeficiency 66	Pustule, Defective T cell proliferation, Recurrent skin infections	OMIM:618847
Boutonneuse Fever	Elevated hepatic transaminase, Renal insufficiency, Skin rash, Maculopapular exanthema, Increased...	ORPHA:83313
Hypouricemia, Renal, 1	Hypouricemia, Proteinuria, Elevated circulating creatinine concentration, Urolithiasis, Renal tub...	OMIM:220150
Antisynthetase Syndrome	Myositis, Skin rash, Autoimmunity, Elevated circulating creatine kinase concentration, Pruritus, ...	ORPHA:81
Hereditary Renal Hypouricemia	Hypouricemia, Chronic kidney disease, Hypercalciuria, Hyperuricosuria, Hematuria, Mild proteinuri...	ORPHA:94088
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome	Hepatomegaly, Inguinal hernia, Superficial dermal perivascular inflammatory infiltrate, Parakerat...	ORPHA:83617
Muscular Dystrophy, Congenital Hearing Loss, And Ovarian Insufficiency Syndrome	Mitochondrial hypertrophy, Premature ovarian insufficiency, Elevated circulating creatine kinase ...	OMIM:619518
Familial Cold Autoinflammatory Syndrome 1	Skin rash, Elevated circulating C-reactive protein concentration, Uveitis, Arthritis, Conjunctivi...	OMIM:120100
Renal Hypoplasia	Renal insufficiency, Urethral valve, Proteinuria, Recurrent urinary tract infections, Unilateral ...	ORPHA:93101
Elastoderma	Premature skin wrinkling, Erysipelas, Eczema, Cutis laxa	ORPHA:228240
Autoinflammatory Syndrome, Familial, Behcet-Like 1	Anterior uveitis, Skin rash, Antinuclear antibody positivity, Colitis, Lupus anticoagulant	OMIM:616744
Centrifugal Lipodystrophy	Reduced subcutaneous adipose tissue, Inflammatory abnormality of the skin, Alopecia, Lipoatrophy,...	ORPHA:90156
Palmoplantar Keratoderma I, Striate, Focal, Or Diffuse	Hypergranulosis, Yellow nails, Palmoplantar hyperkeratosis, Hyperhidrosis, Orthokeratotic hyperke...	OMIM:148700
Glycogen Storage Disease Xii	Hepatomegaly, Elevated circulating creatine kinase concentration, Cholelithiasis, Splenomegaly, J...	OMIM:611881
Cardiomyopathy, Dilated, With Woolly Hair And Keratoderma	Death in early adulthood, Alopecia, Sparse eyelashes, Acantholysis, Sparse eyebrow, Palmoplantar ...	OMIM:605676
Dent Disease 1	Renal insufficiency, Hyperphosphaturia, Chronic kidney disease, Stage 5 chronic kidney disease, N...	OMIM:300009
Ring Chromosome Y Syndrome	Male infertility, Streak ovary, Hypospadias, Unilateral cryptorchidism, Female infertility, Crypt...	ORPHA:261529
Erythema Elevatum Diutinum	Skin vesicle, Skin rash, Increased circulating antibody level	ORPHA:90000
Hereditary Mucoepithelial Dysplasia	Alopecia, Abnormality of the bladder, Hematuria, Fine hair, Hyperkeratosis, Sparse hair	ORPHA:1839
Ichthyosis, Annular Epidermolytic, 1	Abnormal hair morphology, Hyperparakeratosis, Erythema, Palmoplantar hyperkeratosis, Congenital b...	OMIM:607602
Autoinflammation With Infantile Enterocolitis	Skin rash, Elevated circulating C-reactive protein concentration, Reduced natural killer cell act...	OMIM:616050
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome	Eczema, Increased circulating IgE level, Increased circulating IgM level, Reduced antigen-specifi...	OMIM:617241
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2	Duplicated collecting system, Hip contracture, Death in infancy, Bilateral fetal pyelectasis, Hep...	OMIM:300868
Frasier Syndrome	Proteinuria, Stage 5 chronic kidney disease, Primary amenorrhea, Focal segmental glomeruloscleros...	OMIM:136680
Schimke Immunoosseous Dysplasia	Renal insufficiency, Proteinuria, Abnormal immunoglobulin level, Bilateral cryptorchidism, Stage ...	OMIM:242900
Agammaglobulinemia 7, Autosomal Recessive	Erythema nodosum, Agammaglobulinemia, Panhypogammaglobulinemia	OMIM:615214
Kid Syndrome	Angular cheilitis, Posterior blepharitis, Scarring alopecia of scalp, Recurrent cutaneous fungal ...	ORPHA:477
Immunodeficiency, Common Variable, 8, With Autoimmunity	Atrophic gastritis, Uveitis, Inflammation of the large intestine, Colitis, Conjunctivitis, Decrea...	OMIM:614700
Aapoaiv Amyloidosis	Proteinuria, Abnormal renal medulla morphology, Renal interstitial amyloid deposits, Hyperlipidem...	ORPHA:439232
Glycogen Storage Disease Due To Aldolase A Deficiency	Elevated creatine kinase after exercise, Reduced circulating aldolase concentration, Hyperkalemia...	ORPHA:57
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome	Hyponatremia, Proteinuria, Polyuria, Renal salt wasting, Hypomagnesemia, Chronic kidney disease, ...	OMIM:613845
Letterer-Siwe Disease	Seborrheic dermatitis, Jaundice, Hepatosplenomegaly, Pallor, Stomatitis	OMIM:246400
Oligomeganephronia	Renal insufficiency, Proteinuria, Congenital diaphragmatic hernia, Unilateral renal agenesis, Glo...	ORPHA:2260
Myopathy With Myalgia, Increased Serum Creatine Kinase, And With Or Without Episodic Rhabdomyolysis	Elevated hepatic transaminase, Elevated circulating creatine kinase concentration, Elevated circu...	OMIM:620138
Neuraminidase Deficiency	Hepatomegaly, Inguinal hernia, Urinary excretion of sialylated oligosaccharides, Proteinuria, Inc...	OMIM:256550
Imerslund-Grasbeck Syndrome 1	Microscopic hematuria, Proteinuria	OMIM:261100
Juvenile Nephropathic Cystinosis	Hyponatremia, Low-molecular-weight proteinuria, Renal insufficiency, Hypouricemia, Proteinuria, E...	ORPHA:411634
Peeling Skin Syndrome 5	Hyperkeratosis, Scaling skin	OMIM:617115
Bullous Pemphigoid	Erythema, Psoriasiform dermatitis, Autoimmunity, Eczema	ORPHA:703
Acute Radiation Syndrome	Inflammatory abnormality of the skin, Skin ulcer, Hyperkeratosis, Interstitial pneumonitis, Scali...	ORPHA:454831
Proteinuria, Chronic Benign	Albuminuria, Renal insufficiency, Proteinuria	OMIM:618884
Keratosis Linearis With Ichthyosis Congenita And Sclerosing Keratoderma	Parakeratosis, Linear arrays of macular hyperkeratoses in flexural areas, Honeycomb palmoplantar ...	OMIM:601952
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib	Nephrocalcinosis, Inflammation of the large intestine, Periodontitis, Hepatic steatosis, Tubuloin...	ORPHA:79259
Alport Syndrome 1, X-Linked	Renal insufficiency, Glomerular basement membrane lamellation, Proteinuria, Thickened glomerular ...	OMIM:301050
Immune-Mediated Necrotizing Myopathy	Myositis, Skin rash, Elevated circulating creatine kinase concentration, Myocarditis, Autoimmune ...	ORPHA:206569
Osteootohepatoenteric Syndrome	Proteinuria, Pruritus, Microvesicular hepatic steatosis, Grade II vesicoureteral reflux, Cholesta...	OMIM:619377
Ameloonychohypohidrotic Syndrome	Hypohidrosis, Hypocalcification of dental enamel, Dry skin, Seborrheic dermatitis	OMIM:104570
Immunodeficiency 69	Splenomegaly, Increased circulating ferritin concentration, Skin rash, Hepatosplenomegaly	OMIM:618963
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Dominant	Recurrent bacterial skin infections, Sparse eyelashes, Trichiasis, Keratitis, Sparse eyebrow, Elb...	OMIM:148210
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency	Abnormal circulating acylcarnitine concentration, Acute hepatic failure, Elevated hepatic transam...	ORPHA:71212
Takayasu Arteritis	Increased inflammatory response, Skin ulcer, Hyperhidrosis, Arthritis, Inflammatory abnormality o...	ORPHA:3287
Keratolytic Winter Erythema	Pustule, Erythema, Hyperhidrosis	ORPHA:50943
Dermatitis Herpetiformis	Autoimmunity, Eczema, Pruritus, Erythema, Skin vesicle	ORPHA:1656
Hemihyperplasia-Multiple Lipomatosis Syndrome	Lipoatrophy, Seborrheic dermatitis, Hyperparakeratosis, Hydrocele testis, Multiple lipomas, Nephr...	ORPHA:276280
Protoporphyria, Erythropoietic, 1	Hypertriglyceridemia, Eczema, Pruritus, Erythema, Cholelithiasis, Hepatic failure	OMIM:177000
Hypotrichosis And Recurrent Skin Vesicles	Sparse scalp hair, Sparse eyelashes, Angular cheilitis, Sparse axillary hair, Sparse eyebrow, Leu...	OMIM:613102
Schnitzler Syndrome	Hepatomegaly, Skin rash, Pruritus, Splenomegaly, Arthritis, Increased circulating IgM level	ORPHA:37748
Ciliary Dyskinesia, Primary, 37	Female infertility, Bronchiectasis, Chronic rhinitis	OMIM:617577
Idiopathic Hypereosinophilic Syndrome	Elevated hepatic transaminase, Inflammatory abnormality of the skin, Eczema, Cholangitis, Pruritu...	ORPHA:3260
Infantile Myofibromatosis	Neoplasm of the pancreas, Hypercalcemia, Abnormality of the kidney, Abnormal hair morphology, Ski...	ORPHA:2591
Wiskott-Aldrich Syndrome 2	Defective T cell proliferation, Eczema, Reduced natural killer cell activity	OMIM:614493
Acrogeria	Excessive wrinkled skin, Lipoatrophy, Skin ulcer, Fine hair	ORPHA:2500
Zygomycosis	Unusual skin infection, Fasciitis, Sinusitis, Pericarditis, Gastritis, Renal insufficiency, Pustu...	ORPHA:73263
Hyper-Ige Syndrome 4B, Autosomal Recessive, With Recurrent Infections	Eczema, Keratitis, Increased circulating IgE level, Bronchiectasis, Recurrent otitis media, Joint...	OMIM:618523
Hereditary Spherocytosis	Hepatomegaly, Maculopapular exanthema, Splenomegaly, Jaundice, Skin ulcer, Gout, Pallor, Hyperbil...	ORPHA:822
Mucopolysaccharidosis Type 7	Inguinal hernia, Splenomegaly, Hepatitis, Mucopolysacchariduria, Umbilical hernia	ORPHA:584
Congenital Disorder Of Glycosylation, Type Iiw	Elevated hepatic transaminase, Hepatomegaly, Inguinal hernia, Membranoproliferative glomeruloneph...	OMIM:619525
Ichthyosis, Congenital, Autosomal Recessive 3	Anhidrosis, Erythema, Hypohidrosis, Hyperkeratosis, Palmoplantar keratoderma, Congenital nonbullo...	OMIM:606545
Cystinosis, Nephropathic	Aminoaciduria, Renal Fanconi syndrome, Low-molecular-weight proteinuria, Hypophosphatemic rickets...	OMIM:219800
Lead Poisoning	Decreased HDL cholesterol concentration, Decreased female libido, Skin rash, Miscarriage, Abnorma...	ORPHA:330015
Hereditary Pheochromocytoma-Paraganglioma	Proteinuria, Hypercalcemia, Elevated urinary norepinephrine level, Episodic hyperhidrosis, Elevat...	ORPHA:29072
Papillorenal Syndrome	Renal malrotation, Multicystic kidney dysplasia, Proteinuria, Absence of renal corticomedullary d...	OMIM:120330
Myeloproliferative/Lymphoproliferative Neoplasms, Familial (Multiple Types), Susceptibility To	Bone marrow hypocellularity, Eczema, Systemic lupus erythematosus	OMIM:616871
Combined Immunodeficiency Due To Zap70 Deficiency	Recurrent bacterial skin infections, Autoimmune hemolytic anemia, Skin rash, Pneumonia, Autoimmun...	ORPHA:911
Alagille Syndrome 2	Renal insufficiency, Proteinuria, Renal hypoplasia, Renal cyst, Cholestasis, Hematuria, Renal tub...	OMIM:610205
Epidermodysplasia Verruciformis	Pustule, Recurrent skin infections, Seborrheic dermatitis	ORPHA:302
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly	Death in infancy, Renal insufficiency, Polycystic liver disease, Proteinuria, Pancreatic fibrosis...	OMIM:208500
Epidermolysis Bullosa Simplex With Circinate Migratory Erythema	Parakeratosis, Pruritus, Palmoplantar hyperkeratosis, Nail dystrophy, Erythema migrans, Skin vesicle	ORPHA:158681
Reynolds Syndrome	Calcinosis, Hepatomegaly, Elevated hepatic transaminase, Pruritus, Antinuclear antibody positivit...	OMIM:613471
Lymphedema-Distichiasis Syndrome	Glomerulopathy, Recurrent urinary tract infections, Recurrent skin infections, Proteinuria, Tubul...	ORPHA:33001
Hyper-Ige Syndrome 4A, Autosomal Dominant, With Recurrent Infections	Recurrent skin infections, Recurrent pneumonia, Increased circulating IgE level, Atopic dermatiti...	OMIM:619752
Keratosis Follicularis Spinulosa Decalvans, Autosomal Dominant	Alopecia, Sparse eyelashes, Keratitis, Scarring alopecia of scalp, Sparse eyebrow, Facial erythem...	OMIM:612843
Gaucher Disease Type 1	Hepatomegaly, Proteinuria, Hypersplenism, Splenomegaly, Osteoarthritis, Hematuria, Increased circ...	ORPHA:77259
Granulomatous Disease, Chronic, Autosomal Recessive, 5	Acute pancreatitis, Rheumatoid factor positive, Eczema, Perianal abscess, Lymphadenitis, Splenome...	OMIM:618935
Peeling Skin Syndrome 4	Hyperkeratosis, Palmoplantar keratoderma, Scaling skin, Nail dystrophy, Ichthyosis, Orthokeratosis	OMIM:607936
Bone Marrow Failure Syndrome 4	Bone marrow hypocellularity, Dry skin, Eczema, Decreased circulating antibody level	OMIM:618116
Monosomy 22	Seborrheic dermatitis, Thickened skin, Synophrys, Hyperhidrosis, Hepatosplenomegaly, Contractures...	ORPHA:96123
Acute Disseminated Encephalomyelitis	Viral hepatitis, Anti-myelin oligodendrocyte glycoprotein antibody positivity, Herpes simplex enc...	ORPHA:83597
Proliferating Trichilemmal Cyst	Sparse scalp hair, Skin ulcer	ORPHA:492
Inflammatory Skin And Bowel Disease, Neonatal, 2	Pustule, Recurrent pneumonia, Long eyelashes, Increased circulating IgE level	OMIM:616069
Mixed Connective Tissue Disease	Hepatomegaly, Myositis, Pericarditis, Skin rash, Gastritis, Autoimmunity, Alopecia, Myocarditis, ...	ORPHA:809
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5	Anuria, Proteinuria, Hemolytic-uremic syndrome, Elevated circulating creatinine concentration, St...	OMIM:612925
Methylmalonic Aciduria And Homocystinuria, Cblc Type	Methylmalonic acidemia, Hypomethioninemia, Renal insufficiency, Decreased methionine synthase act...	OMIM:277400
Leopard Syndrome 3	Curly hair, Epidermal hyperkeratosis, Low posterior hairline, Hyperkeratosis, Dry skin	OMIM:613707
Familial Mediterranean Fever	Acute hepatic failure, Pericarditis, Skin rash, Proteinuria, Orchitis, Splenomegaly, Osteoarthrit...	ORPHA:342
Donohue Syndrome	Adipose tissue loss, Long penis, Cholestasis, Hyperkeratosis, Hepatic fibrosis, Pancreatic islet-...	OMIM:246200
Wiskott-Aldrich Syndrome	Glomerulopathy, Sinusitis, Eczema, Autoimmunity, Abnormality of the menstrual cycle, Keratitis, S...	ORPHA:906
Trichothiodystrophy 7, Nonphotosensitive	Brittle hair, Ichthyosis, Congenital nonbullous ichthyosiform erythroderma, Follicular hyperkerat...	OMIM:618546
Palmoplantar Keratoderma And Congenital Alopecia 1	Alopecia, Brittle hair, Plantar hyperkeratosis, Epidermal hyperkeratosis, Sparse eyebrow, Leukony...	OMIM:104100
Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects	Alopecia, Parakeratosis, Unilateral renal agenesis, Elevated 8-dehydrocholesterol, Flexion contra...	OMIM:308050
Meige Disease	Recurrent bacterial skin infections, Recurrent skin infections, Skin ulcer, Atypical scarring of ...	ORPHA:90186
Mitochondrial Complex Iv Deficiency, Nuclear Type 1	Hepatomegaly, Hyperphosphaturia, Proteinuria, Renal tubular dysfunction, Death in childhood, Amin...	OMIM:220110
Hereditary Acrokeratotic Poikiloderma	Camptodactyly of finger, Eczema, Abnormal preputium morphology, Pustule, Abnormality of the ureth...	ORPHA:2907
Neuroleptic Malignant Syndrome	Hyponatremia, Elevated hepatic transaminase, Proteinuria, Elevated circulating creatine kinase co...	ORPHA:94093
Galloway-Mowat Syndrome 10	Diffuse mesangial sclerosis, Podocyte foot process effacement, Proteinuria, Stage 5 chronic kidne...	OMIM:619609
Cockayne Syndrome Type 1	Elevated hepatic transaminase, Hepatomegaly, Renal insufficiency, Foot joint contracture, Scarrin...	ORPHA:90321
Lymphatic Malformation 12	Inguinal hernia, Death in adolescence, Hydrocele testis, Hyperkeratosis, Neonatal death	OMIM:620014
Hyper-Ige Syndrome 2, Autosomal Recessive, With Recurrent Infections	Eczema, Eosinophilic infiltration of the esophagus, Recurrent pneumonia, Increased circulating Ig...	OMIM:243700
Ichthyotic Keratoderma, Spasticity, Hypomyelination, And Dysmorphic Facial Features	Neurogenic bladder, Parakeratosis, Hyperkeratosis, Ichthyosis, Acanthosis nigricans, Dry skin	OMIM:618527
Zika Virus Disease	Maculopapular exanthema, Skin rash, Miscarriage, Pruritus, Arthritis, Increased circulating IgM l...	ORPHA:448237
Ramon Syndrome	Hyperkeratosis, Abnormal dental enamel morphology, Generalized hirsutism	ORPHA:3019
Donnai-Barrow Syndrome	Omphalocele, Proteinuria, Congenital diaphragmatic hernia, Widow's peak, Umbilical hernia	ORPHA:2143
Neuropathy, Hereditary Sensory And Autonomic, Type Iib	Episodic hyperhidrosis, Urinary incontinence, Osteomyelitis, Acral ulceration	OMIM:613115
Indolent Systemic Mastocytosis	Hepatomegaly, Maculopapular exanthema, Skin rash, Pruritus, Splenomegaly, Increased proportion of...	ORPHA:98848
Erythrokeratodermia Variabilis Et Progressiva 3	Hypergranulosis, Erythema, Leukonychia, Hyperkeratosis, Palmoplantar keratoderma, Orthokeratosis	OMIM:617525
Holocarboxylase Synthetase Deficiency	Alopecia, Eczema, Hyperammonemia, Keratoconjunctivitis, Organic aciduria, Perioral eczema	ORPHA:79242
Leptospirosis	Hepatomegaly, Pericarditis, Skin rash, Cellular urinary casts, Jaundice, Hepatitis, Uveitis, Hype...	ORPHA:509
Glycogen Storage Disease Ic	Hepatomegaly, Renal insufficiency, Proteinuria, Hepatoblastoma, Chronic pancreatitis, Hyperlipide...	OMIM:232240
Tubulointerstitial Nephritis And Uveitis Syndrome	Elevated circulating C-reactive protein concentration, Renal interstitial edema, Sterile pyuria, ...	ORPHA:91500
Imerslund-Grasbeck Syndrome 2	Proteinuria	OMIM:618882
Mitochondrial Trifunctional Protein Deficiency 1	Elevated hepatic transaminase, Elevated circulating aspartate aminotransferase concentration, Ele...	OMIM:609015
Candidiasis, Familial, 8	Chronic oral candidiasis, Blepharitis, Cheilitis, Seborrheic dermatitis	OMIM:615527
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3	Anuria, Proteinuria, Hemolytic-uremic syndrome, Elevated circulating creatinine concentration, He...	OMIM:612923
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2	Anuria, Proteinuria, Hemolytic-uremic syndrome, Elevated circulating creatinine concentration, He...	OMIM:612922
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6	Anuria, Proteinuria, Hemolytic-uremic syndrome, Elevated circulating creatinine concentration, He...	OMIM:612926
Psoriasis-Related Juvenile Idiopathic Arthritis	Anterior uveitis, Psoriasiform dermatitis, Skin rash, Autoimmunity, Psoriasiform lesion, Pruritus...	ORPHA:85436
22Q11.2 Deletion Syndrome	Inguinal hernia, Acne, Autoimmunity, Abnormal dental enamel morphology, Seborrheic dermatitis, Hy...	ORPHA:567
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency	Recurrent bacterial skin infections, Hepatomegaly, Skin rash, Pneumonia, Abnormal immunoglobulin ...	ORPHA:276
Thrombotic Thrombocytopenic Purpura, Hereditary	Proteinuria, Hemolytic-uremic syndrome, Jaundice, Elevated circulating creatinine concentration, ...	OMIM:274150
Primary Ciliary Dyskinesia	Male infertility, Abnormal sperm motility, Female infertility, Asplenia, Bronchiectasis, Recurren...	ORPHA:244
Stevens-Johnson Syndrome	Acute hepatic failure, Dyspareunia, Renal insufficiency, Elevated hepatic transaminase, Dysuria, ...	ORPHA:36426
Dyskeratosis Congenita	White hair, Hyperhidrosis, Premature graying of hair, Periodontitis, Skin vesicle, Sparse hair, H...	ORPHA:1775
Car T Cell Therapy-Associated Cytokine Release Syndrome	Elevated hepatic transaminase, Increased inflammatory response, Increased circulating interleukin...	ORPHA:542323
Non-Progressive Predominantly Posterior Cavitating Leukoencephalopathy With Peripheral Neuropathy	Hepatomegaly, Hyperphosphaturia, Proteinuria, Renal tubular dysfunction, Aminoaciduria, Renal Fan...	ORPHA:436271
Chromomycosis	Keratitis, Pruritus, Hyperparakeratosis, Atypical scarring of skin, Hyperkeratosis, Keratoconjunc...	ORPHA:182
Mutilating Palmoplantar Keratoderma With Periorificial Keratotic Plaques	Anhidrosis, Alopecia, Thickened skin, Erythema, Skin ulcer, Palmoplantar keratoderma, Palmoplanta...	ORPHA:659
Fanconi Renotubular Syndrome 3	Hyperphosphaturia, Elevated circulating creatinine concentration, Glycosuria, Aminoaciduria, Low-...	OMIM:615605
Ectodermal Dysplasia-Blindness Syndrome	Skin ulcer, Fine hair, Hypohidrosis, Hyperkeratosis, Keratoconjunctivitis sicca, Sparse hair	ORPHA:1806
Lujo Hemorrhagic Fever	Elevated hepatic transaminase, Renal insufficiency, Increased circulating lactate dehydrogenase c...	ORPHA:319213
Odontoonychodermal Dysplasia	Sparse scalp hair, Dry hair, Plantar hyperkeratosis, Short nail, Hypergranulosis, Sparse eyebrow,...	OMIM:257980
Agel Amyloidosis	Proteinuria, Pruritus, Stage 5 chronic kidney disease, Cutis laxa, Keratoconjunctivitis sicca, Ab...	ORPHA:85448
Ichthyosis, Congenital, Autosomal Recessive 8	Hypergranulosis, Erythema, Hyperkeratosis, Ichthyosis, Orthokeratosis	OMIM:613943
Gitelman Syndrome	Neoplasm of the pancreas, Proteinuria, Urinary incontinence, Decreased urinary potassium, Hyperma...	ORPHA:358
Buerger Disease	Skin ulcer, Hyperhidrosis	ORPHA:36258
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4	Anuria, Proteinuria, Hemolytic-uremic syndrome, Elevated circulating creatinine concentration, He...	OMIM:612924
Bare Lymphocyte Syndrome, Type I	Chronic otitis media, Chronic sinusitis, Bronchiectasis, Skin ulcer	OMIM:604571
Hatipoglu Immunodeficiency Syndrome	Anhidrosis, Inguinal hernia, Hypospadias, Eczema, Thickened skin, Cryptorchidism, Atopic dermatit...	OMIM:620331
Milroy Disease	Hydrocele testis, Hyperkeratosis, Erysipelas, Cellulitis	ORPHA:79452
Immunodeficiency 57 With Autoinflammation	Skin rash, Gastritis, Perianal abscess, Bronchiectasis, Decreased circulating antibody level, Inf...	OMIM:618108
Toxic Epidermal Necrolysis	Acute hepatic failure, Elevated hepatic transaminase, Renal insufficiency, Dysuria, Acantholysis,...	ORPHA:537
Bethlem Myopathy	Multiple joint contractures, Interphalangeal joint contracture of finger, Ankle flexion contractu...	ORPHA:610
Renal Dysplasia	Abnormal renal calyx morphology, Urinary incontinence, Functional abnormality of the bladder, Ure...	ORPHA:93108
X-Linked Alport Syndrome-Diffuse Leiomyomatosis	Proteinuria, Keratitis, Chronic kidney disease, Stage 5 chronic kidney disease, Hematuria, Smooth...	ORPHA:1018
Ispd-Related Limb-Girdle Muscular Dystrophy R20	Highly elevated creatine kinase, Exercise-induced myoglobinuria	ORPHA:352479
Hypophosphatemic Rickets, X-Linked Recessive	Renal insufficiency, Chronic kidney disease, Nephrolithiasis, Hypercalciuria, Hypophosphatemia, N...	OMIM:300554
Galloway-Mowat Syndrome 3	Diffuse mesangial sclerosis, Proteinuria, Hiatus hernia, Stage 5 chronic kidney disease, Nephroti...	OMIM:617729
Hidrotic Ectodermal Dysplasia, Halal Type	Sparse scalp hair, Absent eyebrow, Supernumerary nipple, Absent eyelashes, Irregular menstruation...	ORPHA:1809
Vohwinkel Syndrome, Variant Form	Parakeratosis, Hypergranulosis, Honeycomb palmoplantar hyperkeratosis, Hyperkeratosis, Orthokerat...	OMIM:604117
Autoimmune Polyendocrine Syndrome, Type Ii	Alopecia, Asplenia, Hepatitis, Chronic mucocutaneous candidiasis, Keratoconjunctivitis, Chronic h...	OMIM:269200
Adiposis Dolorosa	Recurrent skin infections, Autoimmunity, Sparse axillary hair, Sparse pubic hair, Arthritis, Dry ...	ORPHA:36397
Meningococcal Meningitis	Renal insufficiency, Skin rash, Elevated circulating C-reactive protein concentration, Infectious...	ORPHA:33475
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency	Splenomegaly, Jaundice, Hemoglobinuria, Pallor, Unconjugated hyperbilirubinemia, Prolonged neonat...	OMIM:300908
Malignant Hyperthermia, Susceptibility To, 1	Myoglobinuria, Hyperphosphatemia, Hyperkalemia, Elevated circulating creatine kinase concentration	OMIM:145600
Acrokeratosis Verruciformis Of Hopf	Parakeratosis, Hypergranulosis, Acantholysis, Punctate palmoplantar hyperkeratosis, Leukonychia, ...	ORPHA:79151
Mitochondrial Myopathy, Episodic, With Or Without Optic Atrophy And Reversible Leukoencephalopathy	Hepatomegaly, Ketonuria, Elevated circulating creatine kinase concentration, Highly elevated crea...	OMIM:251900
Incontinentia Pigmenti	Alopecia, Maculopapular exanthema, Scarring, Supernumerary nipple, Keratitis, Erythema, Uveitis, ...	OMIM:308300
Hypotrichosis With Juvenile Macular Degeneration	Sparse scalp hair, Brittle hair, Fine hair, Hyperkeratosis, Pili torti	ORPHA:1573
Chronic Nonbacterial Osteomyelitis/Chronic Recurrent Multifocal Osteomyelitis	Psoriasiform dermatitis, Acne, Osteomyelitis, Skin rash, Elevated circulating C-reactive protein ...	ORPHA:324964
Oculocerebrorenal Syndrome Of Lowe	Hypoammonemia, Oligosacchariduria, Nephrocalcinosis, Aminoaciduria, Periodontitis, Chronic otitis...	ORPHA:534
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome	Splenomegaly, Recurrent pneumonia, Pyoderma gangrenosum, Bronchiectasis, Recurrent aphthous stoma...	OMIM:150550
Glycogen Storage Disease Ixd	Elevated circulating creatine kinase concentration, Exercise-induced myoglobinuria	OMIM:300559
Dermatoosteolysis, Kirghizian Type	Keratitis, Osteoarthritis, Skin ulcer, Dystrophic fingernails, Dystrophic toenail	ORPHA:1657
Hypercarotenemia And Vitamin A Deficiency, Autosomal Recessive	Follicular hyperkeratosis	OMIM:277350
Costello Syndrome	Redundant skin, Abnormal dental enamel morphology, Abnormal hair morphology, Cryptorchidism, Lack...	ORPHA:3071
Congenital Factor Xii Deficiency	Penetrating foot ulcers	ORPHA:330
Muscular Dystrophy, Congenital, Davignon-Chauveau Type	Joint contracture, Dry skin, Follicular hyperkeratosis	OMIM:617066
Propionic Acidemia	Hepatomegaly, Increased level of hippuric acid in urine, Eczema, Hyperglycinuria, Hyperammonemia,...	OMIM:606054
Gaucher Disease, Perinatal Lethal	Hepatomegaly, Splenomegaly, Hepatosplenomegaly, Hyperkeratosis, Congenital nonbullous ichthyosifo...	OMIM:608013
Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure	Glomerulopathy, Renal insufficiency, Proteinuria, Nephrotic syndrome, Focal segmental glomerulosc...	OMIM:254900
Mevalonic Aciduria	Elevated hepatic transaminase, Skin rash, Elevated circulating creatine kinase concentration, Ele...	OMIM:610377
Immunodeficiency 96	Multicystic kidney dysplasia, Eczema, Decreased circulating total IgM, Defective T cell prolifera...	OMIM:619774
Crimean-Congo Hemorrhagic Fever	Elevated circulating creatine kinase concentration, Hyperhidrosis, Increased circulating IgG leve...	ORPHA:99827
Amelo-Onycho-Hypohidrotic Syndrome	Abnormal dental enamel morphology, Fine hair, Hypohidrosis, Hyperkeratosis, Dry skin	ORPHA:1028
Complement Component 5 Deficiency	Generalized seborrheic dermatitis	OMIM:609536
Monilethrix	Abnormal eyebrow morphology, Brittle hair, Slow-growing hair, Abnormal eyelash morphology, Fine h...	ORPHA:573
Congenital Disorder Of Glycosylation, Type Iif	Decreased platelet glycoprotein Ib, Aminoaciduria, Proteinuria	OMIM:603585
Immunodeficiency 110 With Lymphoproliferation	Autoimmune hemolytic anemia, Recurrent skin infections, Recurrent pneumonia, Bronchiectasis, Chro...	OMIM:614868
Yao Syndrome	Inflammatory abnormality of the skin, Pericarditis, Skin rash, Nephrolithiasis, Arthritis, Kerato...	OMIM:617321
Cryoglobulinemia, Familial Mixed	Proteinuria, Chronic kidney disease, Elevated circulating creatinine concentration, Hematuria, Ab...	OMIM:123550
Ichthyosis, Annular Epidermolytic, 2	Erythema, Palmoplantar hyperkeratosis, Palmoplantar keratoderma, Scaling skin, Ichthyosis, Orthok...	OMIM:620148
Medium Chain 3-Ketoacyl-Coa Thiolase Deficiency	Neonatal death, Myoglobinuria, Decreased liver function	OMIM:602199
American Trypanosomiasis	Hepatomegaly, Skin rash, Myocarditis, Splenomegaly, Autoimmune antibody positivity, Pallor, Infec...	ORPHA:3386
Alström Syndrome	Urinary incontinence, Functional abnormality of the bladder, Hypoplasia of the Leydig cells, Hepa...	ORPHA:64
Neuropathy, Hereditary Sensory, Type Iic	Acral ulceration	OMIM:614213
Neurodevelopmental Disorder With Epilepsy And Hemochromatosis	Hepatomegaly, Limb joint contracture, Seborrheic dermatitis, Splenomegaly, Micronodular cirrhosis...	OMIM:301072
Cardiofaciocutaneous Syndrome	Brittle hair, Slow-growing hair, Redundant skin, Abnormal eyelash morphology, Cryptorchidism, Low...	ORPHA:1340
Blau Syndrome	Clear cell renal cell carcinoma, Pericarditis, Skin rash, Camptodactyly of finger, Keratitis, Ret...	ORPHA:90340
Erythroderma Desquamativum	Seborrheic dermatitis	ORPHA:314
Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease	Increased urinary cortisol level, Alopecia, Striae distensae, Acne, Dorsocervical fat pad, Hyperl...	ORPHA:189427
Growth Hormone Insensitivity Syndrome With Immune Dysregulation 2, Autosomal Dominant	Increased circulating IgE level, Eczema, Thyroiditis	OMIM:618985
Beta-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R4	Myoglobinuria, Elevated circulating creatine kinase concentration	ORPHA:119
Incontinentia Pigmenti	Alopecia, Skin rash, Abnormal dental enamel morphology, Camptodactyly of finger, Supernumerary ni...	ORPHA:464
Wild Type Attr Amyloidosis	Hepatomegaly, Renal insufficiency, Proteinuria, Nephrotic syndrome, Elevated circulating alkaline...	ORPHA:330001
Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome	Proteinuria, Chronic kidney disease, Tubulointerstitial nephritis, Nephrotic syndrome, Decreased ...	ORPHA:488627
Acrodermatitis Enteropathica	Abnormal eyebrow morphology, Alopecia, Pustule, Erythema, Cheilitis, Skin ulcer, Conjunctivitis, ...	ORPHA:37
Bone Marrow Failure Syndrome 3	Eczema, Pancreatic steatosis, Cryptorchidism, Exocrine pancreatic insufficiency, Hyperkeratosis, ...	OMIM:617052
Papillon-Lefèvre Syndrome	Recurrent cutaneous abscess formation, Liver abscess, Severe periodontitis, Recurrent skin infect...	ORPHA:678
Ectodermal Dysplasia-Sensorineural Deafness Syndrome	Brittle hair, Camptodactyly of finger, Hyperkeratosis, Coarse hair, Joint contracture of the 5th ...	ORPHA:1883
Chronic Granulomatous Disease	Hepatomegaly, Sinusitis, Liver abscess, Eczema, Splenomegaly, Skin ulcer, Otitis media, Inflammat...	ORPHA:379
Mandibuloacral Dysplasia Progeroid Syndrome	Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Proteinuria, Elevated hemoglob...	OMIM:619127
Bazex-Dupre-Christol Syndrome	Eczema, Trichorrhexis nodosa, Atopic dermatitis, Hypohidrosis, Coarse hair, Sparse hair, Pili tor...	OMIM:301845
Giant Cell Arteritis	Alopecia, Pericarditis, Renal insufficiency, Skin ulcer, Hyperhidrosis, Hematuria, Arthritis, Hep...	ORPHA:397
Nail-Patella Syndrome	Renal insufficiency, Proteinuria, Abnormality of the kidney, Contracture of the distal interphala...	ORPHA:2614
Cardiofaciocutaneous Syndrome 3	Hyperkeratosis, Curly hair, Hyperhidrosis	OMIM:615279
Pachyonychia Congenita	Alopecia, Angular cheilitis, Linear arrays of macular hyperkeratoses in flexural areas, Palmoplan...	ORPHA:2309
Pheochromocytoma--Islet Cell Tumor Syndrome	Proteinuria, Hypercalcemia, Elevated urinary norepinephrine level, Hyperhidrosis	OMIM:171420
Ectodermal Dysplasia-Skin Fragility Syndrome	Urethral stricture, Chapped lip, Recurrent skin infections, Scarring, Pruritus, Recurrent pneumon...	ORPHA:158668
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum	Gastrointestinal inflammation, Conjunctivitis, Abnormal penis morphology, Skin ulcer, Acute kidne...	ORPHA:95455
Cirrhosis, Familial	Fulminant hepatitis, Micronodular cirrhosis, Jaundice, Biliary cirrhosis, Increased level of L-fu...	OMIM:215600
Eec Syndrome	Slow-growing hair, Abnormal dental enamel morphology, Hypospadias, Renal hypoplasia/aplasia, Kera...	ORPHA:1896
Granulomatosis With Polyangiitis	Episcleritis, Sinusitis, Keratitis, Cytoplasmic antineutrophil antibody positivity, Uveitis, Skin...	OMIM:608710
Cervical Hypertrichosis-Peripheral Neuropathy Syndrome	Osteomyelitis, Generalized hirsutism, Skin ulcer	ORPHA:2218
Fowler Urethral Sphincter Dysfunction Syndrome	Acne, Dysuria, Urinary incontinence, Abnormality of the urethra, Urinary retention, Menorrhagia, ...	ORPHA:2795
Thrombocytopenia-Absent Radius Syndrome	Ureteral duplication, Renal malrotation, Death in infancy, Seborrheic dermatitis, Pancreatic cyst...	OMIM:274000
Anoctamin-5-Related Limb-Girdle Muscular Dystrophy R12	Elevated circulating creatine kinase concentration, Ankle flexion contracture, Flexion contractur...	ORPHA:206549
Denys-Drash Syndrome	Nephrotic syndrome, Nephropathy, Proteinuria, Nephroblastoma	ORPHA:220
Premature Ovarian Failure 6	Streak ovary, Premature ovarian insufficiency, Female infertility, Secondary amenorrhea, Primary ...	OMIM:612310
Multicentric Carpo-Tarsal Osteolysis With Or Without Nephropathy	Nephropathy, Proteinuria, Camptodactyly of finger	ORPHA:2774
Galloway-Mowat Syndrome 1	Diffuse mesangial sclerosis, Renal insufficiency, Proteinuria, Hiatus hernia, Nephrotic syndrome,...	OMIM:251300
Fabry Disease	Glomerulopathy, Renal insufficiency, Proteinuria, Hyperlipidemia, Hypohidrosis, Hematuria, Arthri...	ORPHA:324
Infantile Digital Fibromatosis	Hyperkeratosis, Parakeratosis	ORPHA:199267
Alpha-N-Acetylgalactosaminidase Deficiency Type 1	Hyperkeratosis, Hepatomegaly	ORPHA:79279
Lymphatic Malformation 4	Hydrocele testis, Hyperkeratosis, Cellulitis	OMIM:615907
Aromatase Deficiency	Macroorchidism, postpubertal, Male infertility, Hypergonadotropic hypogonadism, Female infertilit...	ORPHA:91
Immunodeficiency 12	Skin rash, Decreased lymphocyte proliferation in response to anti-CD3, Cheilitis, Bronchiectasis,...	OMIM:615468
Palmoplantar Hyperkeratosis With Squamous Cell Carcinoma Of Skin And 46,Xx Sex Reversal	Hypertriglyceridemia, Hypospadias, Orthokeratotic hyperkeratosis, Palmoplantar keratoderma, Nail ...	OMIM:610644
Mucoepithelial Dysplasia, Hereditary	Alopecia, Pneumonia, Recurrent pneumonia, Chronic mucocutaneous candidiasis, Keratoconjunctivitis...	OMIM:158310
Lymphoid Interstitial Pneumonia	Hepatomegaly, Skin rash, Eczema, Autoimmunity, Autoimmune antibody positivity, Bronchiectasis, Ke...	ORPHA:79128
Acute Liver Failure	Elevated hepatic transaminase, Skin rash, Jaundice, Hepatitis, Hyperammonemia, Hepatocellular nec...	ORPHA:90062
Cardiofaciocutaneous Syndrome 1	Absent eyebrow, Curly hair, Slow-growing hair, Absent eyelashes, Splenomegaly, Atopic dermatitis,...	OMIM:115150
Hemophagocytic Lymphohistiocytosis, Familial, 2	Hyponatremia, Hypoproteinemia, Hepatomegaly, Hypertriglyceridemia, Skin rash, Elevated hepatic tr...	OMIM:603553
Neuropathy, Hereditary Sensory And Autonomic, Type Ic	Anhidrosis, Osteomyelitis, Skin ulcer	OMIM:613640
Aplasia Cutis Congenita	Skin ulcer	ORPHA:1114
Palmoplantar Carcinoma, Multiple Self-Healing	Parakeratosis, Palmoplantar keratoderma, Nail dystrophy, Follicular hyperkeratosis, Chronic rhinitis	OMIM:615225
Peroxisome Biogenesis Disorder 1A (Zellweger)	Intrahepatic biliary dysgenesis, Hepatomegaly, Redundant neck skin, Hypospadias, Cryptorchidism, ...	OMIM:214100
Premature Ovarian Failure 13	Oligomenorrhea, Female infertility, Amenorrhea	OMIM:617442
Primary Fanconi Renotubular Syndrome	Low-molecular-weight proteinuria, Hypouricemia, Increased urinary potassium, Chronic kidney disea...	ORPHA:3337
Adult Polyglucosan Body Disease	Neurogenic bladder, Urinary bladder sphincter dysfunction, Urinary incontinence, Skin ulcer	ORPHA:206583
Reactive Arthritis	Pericarditis, Osteomyelitis, Recurrent urinary tract infections, Pustule, Enthesitis, Arthritis, ...	ORPHA:29207
Leukoencephalopathy, Progressive, Infantile-Onset, With Or Without Deafness	Increased serum pyruvate, Renal insufficiency, Mild proteinuria, Death in childhood, Hyperalaninemia	OMIM:619147
Cornelia De Lange Syndrome 1	Congenital diaphragmatic hernia, Ectopic kidney, Synophrys, Renal cyst, Otitis media, Vesicourete...	OMIM:122470
3-Hydroxyacyl-Coa Dehydrogenase Deficiency	Fulminant hepatic failure, Dicarboxylic aciduria, Hepatic necrosis, Decreased 3-hydroxyacyl-CoA d...	OMIM:231530
Kindler Epidermolysis Bullosa	Urethral stricture, Recurrent skin infections, Abnormal dental enamel morphology, Camptodactyly o...	ORPHA:2908
Leukocyte Adhesion Deficiency, Type I	Osteomyelitis, Elevated circulating C-reactive protein concentration, Skin ulcer, Chronic mucocut...	OMIM:116920
Localized Dystrophic Epidermolysis Bullosa, Acral Form	Erythema, Crusting erythematous dermatitis, Palmoplantar hyperkeratosis, Dystrophic fingernails, ...	ORPHA:158673
Premature Ovarian Failure 20	Secondary amenorrhea, Female infertility	OMIM:619938
Hypoparathyroidism, Sensorineural Deafness, And Renal Dysplasia Syndrome	Proteinuria, Chronic kidney disease, Thickened glomerular basement membrane, Proximal renal tubul...	OMIM:146255
Bleeding Disorder, Platelet-Type, 21	Alopecia, Psoriasiform dermatitis, Eczema, Impaired ADP-induced platelet aggregation, Menorrhagia...	OMIM:617443
Ullrich Congenital Muscular Dystrophy 1	Flexion contracture, Mildly elevated creatine kinase, Follicular hyperkeratosis, Hyperhidrosis	OMIM:254090
Familial Benign Chronic Pemphigus	Skin vesicle, Hyperkeratosis, Erythema, Acantholysis	ORPHA:2841
Epidermolysis Bullosa, Junctional 7, With Interstitial Lung Disease And Nephrotic Syndrome	Sparse scalp hair, Renal insufficiency, Sparse eyelashes, Proteinuria, Sparse eyebrow, Erythema, ...	OMIM:614748
Turner Syndrome Due To Structural X Chromosome Anomalies	Ectopic kidney, Gastrointestinal inflammation, Inflammation of the large intestine, Hepatic fibro...	ORPHA:99413
Mosaic Monosomy X	Ectopic kidney, Gastrointestinal inflammation, Inflammation of the large intestine, Hepatic fibro...	ORPHA:99228
Monosomy X	Ectopic kidney, Gastrointestinal inflammation, Inflammation of the large intestine, Hepatic fibro...	ORPHA:99226
Turner Syndrome	Ectopic kidney, Gastrointestinal inflammation, Inflammation of the large intestine, Hepatic fibro...	ORPHA:881
Digeorge Syndrome	Renal dysplasia, Inguinal hernia, Renal insufficiency, Acne, Femoral hernia, Unilateral renal age...	OMIM:188400
Fucosidosis	Hepatomegaly, Lipoatrophy, Abnormality of the gallbladder, Hyperhidrosis, Mucopolysacchariduria, ...	ORPHA:349
Paroxysmal Nocturnal Hemoglobinuria	Hemosiderinuria, Renal insufficiency, Proteinuria, Decreased serum iron, Abnormal erythrocyte enz...	ORPHA:447
Atypical Werner Syndrome	Abnormal hair whorl, Premature graying of hair, Hepatic steatosis, Renal neoplasm, Alopecia, Prem...	ORPHA:79474
Infection-Related Hemolytic Uremic Syndrome	Hyponatremia, Increased circulating interleukin 6 concentration, Anuria, Pneumonia, Myocarditis, ...	ORPHA:544482
Acrokeratoelastoidosis Of Costa	Hypergranulosis, Palmoplantar hyperkeratosis, Orthokeratosis, Hyperkeratotic papule, Palmar hyper...	ORPHA:38
Mycosis Fungoides	Pruritus, Erythema, Psoriasiform dermatitis, Eczema	OMIM:254400
Cockayne Syndrome	Dry hair, Urinary incontinence, Congenital contracture, Hepatomegaly, Cryptorchidism, Renal hypop...	ORPHA:191
Pachyonychia Congenita 2	Sparse scalp hair, Dry hair, Subungual hyperkeratosis, Angular cheilitis, Sparse eyebrow, Palmopl...	OMIM:167210
Noonan Syndrome-Like Disorder With Loose Anagen Hair 1	Duplicated collecting system, Curly hair, Inguinal hernia, Sparse scalp hair, Eczema, Cryptorchid...	OMIM:607721
Bardet-Biedl Syndrome 20	Elevated hepatic transaminase, Proteinuria, Bilateral cryptorchidism, Male hypogonadism, Hypercho...	OMIM:619471
Familial Benign Copper Deficiency	Early balding, Decreased circulating copper concentration, Acne	ORPHA:1551
Dengue Fever	Hepatomegaly, Skin rash, Pruritus, Hypoproteinemia, Petechiae	ORPHA:99828
Infantile Cataract, Skin Abnormalities, Glutamate Excess, And Impaired Intellectual Development	Hyperkeratosis, Parakeratosis	OMIM:618339
Majeed Syndrome	Inflammatory abnormality of the skin, Osteomyelitis, Skin rash, Flexion contracture, Hepatospleno...	OMIM:609628
Familial Hypocalciuric Hypercalcemia	Hypomagnesiuria, Renal hypophosphatemia, Autoimmunity, Hypercalcemia, Parathormone-independent in...	ORPHA:405
Glycogen Storage Disease Due To Phosphoglycerate Kinase 1 Deficiency	Myoglobinuria, Renal insufficiency, Hyperbilirubinemia	ORPHA:713
Very Long Chain Acyl-Coa Dehydrogenase Deficiency	Elevated hepatic transaminase, Hepatomegaly, Inflammatory abnormality of the skin, Pneumonia, Ele...	ORPHA:26793
Melas	Proteinuria, Hypogonadotropic hypogonadism, Erythema, Focal segmental glomerulosclerosis, Proxima...	ORPHA:550
Generalized Pseudohypoaldosteronism Type 1	Hyponatremia, Osteomyelitis, Pustule, Hyperkalemia, Atopic dermatitis, Increased circulating reni...	ORPHA:171876
Holocarboxylase Synthetase Deficiency	Alopecia, Skin rash, Hyperammonemia, Organic aciduria, Elevated urinary 3-methylcrotonylglycine l...	OMIM:253270
Superficial Epidermolytic Ichthyosis	Ichthyosis, Erythema, Palmoplantar keratoderma, Acantholysis	ORPHA:455
Occipital Horn Syndrome	Inguinal hernia, Recurrent urinary tract infections, Femoral hernia, Scarring, Thick hair, Hiatus...	ORPHA:198
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 5	Achilles tendon contracture, Elevated circulating creatine kinase concentration, Exercise-induced...	OMIM:607155
Inflammatory Bowel Disease 28, Autosomal Recessive	Perianal abscess, Enterocolitis, Folliculitis, Pyoderma, Colitis, Crohn's disease	OMIM:613148
Cushing Disease	Increased urinary cortisol level, Sparse scalp hair, Striae distensae, Acne, Dorsocervical fat pa...	ORPHA:96253
Ohdo Syndrome	Sparse eyebrow, Cryptorchidism, Proteinuria	OMIM:249620
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome	Uveitis, Conjunctivitis, Sparse hair, Absent eyebrow, Alopecia, Abnormal dental enamel morphology...	ORPHA:2273
Distal Limb Deficiencies-Micrognathia Syndrome	Cryptorchidism, Renal insufficiency, Proteinuria, Renal hypoplasia	ORPHA:1307
Immunodeficiency 17	Death in infancy, Autoimmune hemolytic anemia, Eczema, Chronic decreased cirulating IgG2, Death i...	OMIM:615607
Pearson Syndrome	Renal cyst, Abnormality of the liver, Hypocalcemia, Hepatic steatosis, Hepatomegaly, Hypokalemia,...	ORPHA:699
Gamma-Heavy Chain Disease	Hepatomegaly, Autoimmune hemolytic anemia, Skin rash, Autoimmunity, Autoimmune thrombocytopenia, ...	ORPHA:100026
Neuropathy, Hereditary Sensory, With Spastic Paraplegia, Autosomal Recessive	Foot osteomyelitis, Hypotriglyceridemia, Decreased circulating apolipoprotein B concentration, Ac...	OMIM:256840
Familial Mediterranean Fever	Hepatomegaly, Pericarditis, Elevated circulating C-reactive protein concentration, Orchitis, Sple...	OMIM:249100
Epidermolysis Bullosa, Lethal Acantholytic	Neonatal death, Alopecia totalis, Alopecia universalis, Acantholysis	OMIM:609638
Xeroderma Pigmentosum	Alopecia, Keratitis, Thickened skin, Cryptorchidism, Erythema, Hyperkeratosis, Aminoaciduria, Hyp...	ORPHA:910
Naxos Disease	Curly hair, Subungual hyperkeratosis, Acantholysis, Sparse eyebrow, Diffuse palmoplantar hyperker...	OMIM:601214
Metabolic Crises, Recurrent, With Rhabdomyolysis, Cardiac Arrhythmias, And Neurodegeneration	Elevated hepatic transaminase, Ketonuria, Elevated circulating creatine kinase concentration, Ele...	OMIM:616878
Blepharophimosis-Intellectual Disability Syndrome, Ohdo Type	Recurrent otitis media, Cryptorchidism, Proteinuria, Multiple bladder diverticula	ORPHA:2728
Congenital Adrenal Hyperplasia Due To 11-Beta-Hydroxylase Deficiency	Alopecia, Acne, Renal salt wasting, Increased urinary 11-deoxycorticosterone level, Long penis, I...	ORPHA:90795
Leprechaunism	Reduced subcutaneous adipose tissue, Hepatomegaly, Thickened skin, Long penis, Hypercalciuria, Ac...	ORPHA:508
Autoerythrocyte Sensitization Syndrome	Superficial dermal perivascular inflammatory infiltrate, Autoimmune thrombocytopenia, Pruritus, H...	ORPHA:324636
Leiomyomatosis, Diffuse, With Alport Syndrome	Renal insufficiency, Glomerular basement membrane lamellation, Proteinuria, Stage 5 chronic kidne...	OMIM:308940
Renal Hypodysplasia/Aplasia 1	Bilateral renal agenesis, Proteinuria, Renal dysplasia, Primary amenorrhea	OMIM:191830
Hyper-Igd Syndrome	Skin rash, Increased circulating IgA level, Lymphadenitis, Splenomegaly, Hepatosplenomegaly, Arth...	OMIM:260920
Flynn-Aird Syndrome	Alopecia, Skin ulcer	ORPHA:2047
Müllerian Aplasia And Hyperandrogenism	Thick eyebrow, Acne, Renal agenesis, Frontal balding, Synophrys, Primary amenorrhea, Facial hirsu...	ORPHA:247768
Methylmalonic Aciduria And Homocystinuria, Cblf Type	Methylmalonic acidemia, Hepatomegaly, Decreased methionine synthase activity, Skin rash, Cystathi...	OMIM:277380
Intellectual Disability-Seizures-Macrocephaly-Obesity Syndrome	Enuresis, Eczema, Thick eyebrow, Seborrheic dermatitis	ORPHA:369950
Pityriasis Rubra Pilaris	Subungual hyperkeratosis, Parakeratosis, Hypergranulosis, Palmoplantar keratoderma, Orthokeratosis	OMIM:173200
Ollier Disease	Skin ulcer	ORPHA:296
Carnitine Palmitoyltransferase Ii Deficiency, Myopathic, Stress-Induced	Myoglobinuria, Renal insufficiency	OMIM:255110
Ectodermal Dysplasia/Short Stature Syndrome	Hyperkeratosis, Enamel hypoplasia, Palmoplantar keratoderma, Nail dystrophy	OMIM:616029
Aplasia Cutis-Myopia Syndrome	Skin ulcer	ORPHA:1117
Orofaciodigital Syndrome Type 1	Elevated hepatic transaminase, Alopecia, Brittle hair, Multicystic kidney dysplasia, Abnormal den...	ORPHA:2750
Immunodeficiency 59 And Hypoglycemia	Hepatomegaly, Complete or near-complete absence of specific antibody response to unconjugated pne...	OMIM:233600
Vasculopathy, Retinal, With Cerebral Leukoencephalopathy And Systemic Manifestations	Hematuria, Micronodular cirrhosis, Proteinuria, Elevated hepatic transaminase	OMIM:192315
Arima Syndrome	Hepatomegaly, Proteinuria, Polyuria, Stage 5 chronic kidney disease, Hematuria, Renal corticomedu...	OMIM:243910
Porokeratosis 3, Multiple Types	Parakeratosis, Porokeratosis, Nail dystrophy	OMIM:175900
Distal Renal Tubular Acidosis	Hyperphosphaturia, Hypocitraturia, Nephrolithiasis, Renal cyst, Hypercalciuria, Nephrocalcinosis,...	ORPHA:18
Fabry Disease	Renal insufficiency, Proteinuria, Hypohidrosis, Urinary mulberry cells, Lipiduria	OMIM:301500
Alopecia-Contractures-Dwarfism-Intellectual Disability Syndrome	Alopecia, Abnormal dental enamel morphology, Hypohidrosis, Hyperkeratosis, Ichthyosis, Sparse hair	ORPHA:1005
Bloom Syndrome	Male infertility, Recurrent urinary tract infections, Premature ovarian insufficiency, Skin rash,...	ORPHA:125
Autosomal Dominant Hypocalcemia	Alopecia, Eczema, Hypercalciuria, Nephrocalcinosis, Hypermagnesiuria, Hyperphosphatemia, Hypocalc...	ORPHA:428
Arthrogryposis And Ectodermal Dysplasia	Absent eyebrow, Abnormal dental enamel morphology, Trichiasis, Dry skin, Hypohidrosis, Atypical s...	OMIM:601701
Shiga Toxin-Associated Hemolytic Uremic Syndrome	Hyponatremia, Anuria, Peritonitis, Elevated circulating creatinine concentration, Hemoglobinuria,...	ORPHA:90038
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 3	Ureterocele, Vesicoureteral reflux, Micropenis, Hypogonadotropic hypogonadism, Sparse eyebrow, Cr...	OMIM:604292
Monilethrix	Alopecia, Brittle hair, Abnormality of hair texture, Perifollicular hyperkeratosis, Nail dystroph...	OMIM:158000
Lowe Oculocerebrorenal Syndrome	Renal insufficiency, Hyperphosphaturia, Hypercholesterolemia, Camptodactyly of finger, Elevated c...	OMIM:309000
Blau Syndrome	Nongranulomatous uveitis, Pericarditis, Eczema, Camptodactyly of finger, Erythema nodosum, Synovi...	OMIM:186580
Dermatomyositis	Abnormal hair quantity, Pericarditis, Autoimmunity, Pruritus, Myocarditis, Erythema, Skin ulcer, ...	ORPHA:221
Primary Triglyceride Deposit Cardiomyovasculopathy	Hepatomegaly, Inflammatory abnormality of the skin, Abnormal circulating enzyme concentration or ...	ORPHA:565612
Cockayne Syndrome A	Reduced subcutaneous adipose tissue, Hip contracture, Anhidrosis, Dry hair, Renal insufficiency, ...	OMIM:216400
Wiskott-Aldrich Syndrome	Autoimmune hemolytic anemia, Eczema, Increased circulating IgA level, Reduced natural killer cell...	OMIM:301000
Methylmalonic Acidemia With Homocystinuria Type Cblf	Hypomethioninemia, Skin rash, Unilateral renal agenesis, Methylmalonic aciduria, Elevated circula...	ORPHA:79284
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia	Skin rash, Elevated circulating C-reactive protein concentration, Antinuclear antibody positivity...	OMIM:617718
Myopathy With Lactic Acidosis, Hereditary	Myoglobinuria, Elevated circulating creatine kinase concentration	OMIM:255125
Neuropathy, Hereditary Sensory And Autonomic, Type Ia	Foot osteomyelitis, Osteomyelitis, Acral ulceration	OMIM:162400
Cockayne Syndrome B	Reduced subcutaneous adipose tissue, Anhidrosis, Dry hair, Renal insufficiency, Proteinuria, Hepa...	OMIM:133540
Celiac Disease, Susceptibility To, 1	Elevated hepatic transaminase, Alopecia, Eczema, Thyroiditis, Recurrent aphthous stomatitis, Hypo...	OMIM:212750
Sjogren Syndrome	Tubulointerstitial nephritis, Keratoconjunctivitis sicca, Autoimmunity, Rheumatoid arthritis	OMIM:270150
Severe Oculo-Renal-Cerebellar Syndrome	Glomerulopathy, Renal insufficiency, Proteinuria	ORPHA:2715
Imerslund-Gräsbeck Syndrome	Pallor, Proteinuria, Angular cheilitis	ORPHA:35858
Neuropathy, Hereditary Sensory And Autonomic, Type V	Anhidrosis, Osteomyelitis, Urinary incontinence, Osteoarthritis, Acral ulceration, Septic arthritis	OMIM:608654
Dyschondrosteosis-Nephritis Syndrome	Hematuria, Nephropathy, Proteinuria	ORPHA:1765
Mycetoma	Recurrent bacterial skin infections, Cobblestone-like hyperkeratosis, Osteomyelitis	ORPHA:2583
Paroxysmal Cold Hemoglobinuria	Abnormal urinary color, Autoimmune hemolytic anemia, Hemoglobinuria	ORPHA:90035
Malignant Hyperthermia Of Anesthesia	Acute hepatic failure, Elevated creatine kinase after exercise, Hyperkalemia, Hyperphosphatemia, ...	ORPHA:423
Darier-White Disease	Pruritus, Acrokeratosis, Subungual hyperkeratotic fragments, Acantholysis	OMIM:124200
Leprosy	Absent eyebrow, Alopecia, Abnormality of the spleen, Loss of eyelashes, Penetrating foot ulcers, ...	ORPHA:548
Renal Nutcracker Syndrome	Dyspareunia, Proteinuria, Dysmenorrhea, Hematuria, Renal artery stenosis, Infertility, Microscopi...	ORPHA:71273
Galloway-Mowat Syndrome	Proteinuria, Camptodactyly of finger, Hiatus hernia, Nephrotic syndrome, Nephropathy	ORPHA:2065
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form	Alopecia, Recurrent skin infections, Scarring, Erythema, Decreased circulating antibody level, At...	ORPHA:79396
Beta-Thalassemia Major	Hepatomegaly, Hepatocellular carcinoma, Hypersplenism, Splenomegaly, Jaundice, Skin ulcer, Hepato...	ORPHA:231214
Hajdu-Cheney Syndrome	Hepatomegaly, Inguinal hernia, Hypospadias, Thickened skin, Synophrys, Splenomegaly, Low anterior...	ORPHA:955
Donnai-Barrow Syndrome	Omphalocele, Proteinuria, Congenital diaphragmatic hernia, Non-acidotic proximal tubulopathy, Umb...	OMIM:222448
Infantile Nephropathic Cystinosis	Hyperphosphaturia, Abnormal blood ion concentration, Abnormal tubulointerstitial morphology, Rena...	ORPHA:411629
Pheochromocytoma	Proteinuria, Hypercalcemia, Elevated urinary norepinephrine level, Hyperhidrosis, Renal artery st...	OMIM:171300
Severe Hereditary Thrombophilia Due To Congenital Protein S Deficiency	Skin ulcer, Purpura	ORPHA:743
Pseudopelade Of Brocq	Sparse scalp hair, Alopecia, Recurrent skin infections, Abnormal hair morphology, Cheilitis, Apla...	ORPHA:129
Microcephalic Osteodysplastic Primordial Dwarfism, Type I	Flexion contracture, Renal cyst, Knee flexion contracture, Death in childhood, Sparse hair, Micro...	OMIM:210710
Zinc Deficiency, Transient Neonatal	Decreased serum zinc, Alopecia, Eczema	OMIM:608118
Tumor Necrosis Factor Receptor 1 Associated Periodic Syndrome	Fasciitis, Pericarditis, Myositis, Skin rash, Elevated circulating C-reactive protein concentrati...	ORPHA:32960
Proximal Renal Tubular Acidosis	Hyperphosphaturia, Enamel hypomineralization, Bicarbonaturia, Bicarbonate-wasting renal tubular a...	ORPHA:47159
Pachyonychia Congenita 3	Chapped lip, Plantar hyperkeratosis, Hyperhidrosis, Palmoplantar keratoderma, Nail dystrophy, Fol...	OMIM:615726
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1	Ureterocele, Vesicoureteral reflux, Sparse hair, Micropenis, Hypogonadotropic hypogonadism, Spars...	OMIM:129900
Porokeratosis 7, Multiple Types	Parakeratosis, Porokeratosis	OMIM:614714
Porokeratosis 1, Multiple Types	Parakeratosis, Porokeratosis	OMIM:175800
Chronic Graft Versus Host Disease	Elevated hepatic transaminase, Fasciitis, Alopecia, Phimosis, Urinary bladder inflammation, Thick...	ORPHA:99921
Melkersson-Rosenthal Syndrome	Inflammatory abnormality of the skin, Cheilitis, Oligosacchariduria	ORPHA:2483
Rat-Bite Fever	Pericarditis, Maculopapular exanthema, Skin rash, Erythema nodosum, Lymphadenitis, Pustule, Myoca...	ORPHA:31205
Liver Disease, Severe Congenital	Chronic gastritis, Dry hair, Biliary hyperplasia, Aminoaciduria, Hypocalcemia, Elevated hepatic i...	OMIM:619991
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type)	Acute hepatic failure, Hepatomegaly, Elevated circulating aspartate aminotransferase concentratio...	OMIM:256810
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type	Hyperkeratosis, Death in infancy	ORPHA:163966
Hermansky-Pudlak Syndrome	Renal insufficiency, Hypopigmentation of hair, Menometrorrhagia, Abnormal dental enamel morpholog...	ORPHA:79430
Kikuchi-Fujimoto Disease	Elevated hepatic transaminase, Hepatomegaly, Alopecia, Skin rash, Elevated circulating C-reactive...	ORPHA:50918
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency	Skin rash, Partial IgA deficiency, Pustule, Acute otitis media, Recurrent pneumonia, Lack of T ce...	ORPHA:35078
Pierson Syndrome	Diffuse mesangial sclerosis, Proteinuria, Stage 5 chronic kidney disease, Nephrotic syndrome, Dea...	OMIM:609049
Igg4-Related Submandibular Gland Disease	Renal insufficiency, Autoimmunity, Cholangitis, Increased circulating IgG4 level, Abnormality of ...	ORPHA:449432
Behcet Syndrome	Erythema nodosum, Iridocyclitis, Epididymitis, Erythema, Arthritis, Patchy alopecia, Iritis, Decr...	OMIM:109650
Chime Syndrome	Abnormality of the kidney, Erythema, Skin ulcer, Fine hair, Hyperkeratosis, Ichthyosis, Sparse ha...	ORPHA:3474
Isolated Permanent Neonatal Diabetes Mellitus	Ketonuria, Abnormality of the upper urinary tract, Autoimmune antibody positivity, Renal tubular ...	ORPHA:99885
Martin-Probst Syndrome	Renal insufficiency, Proteinuria, Cryptorchidism, Chordee, Hypoplastic nipples, Umbilical hernia,...	OMIM:300519
Myoglobinuria, Recurrent	Recurrent myoglobinuria, Exercise-induced myoglobinuria	OMIM:550500
Estrogen Resistance	Elevated alkaline phosphatase of bone origin, Acne, Primary amenorrhea, Breast aplasia, Acanthosi...	OMIM:615363
Listeriosis	Unusual skin infection, Pericarditis, Osteomyelitis, Miscarriage, Pneumonia, Liver abscess, Pustu...	ORPHA:533
Hyperzincemia With Functional Zinc Depletion	Increased serum zinc, Skin rash, Hepatomegaly	OMIM:601979
Phosphoglycerate Kinase 1 Deficiency	Renal insufficiency, Exercise-induced myoglobinuria	OMIM:300653
Warty Dyskeratoma	Acrokeratosis, Epidermal thickening, Acantholysis	ORPHA:69745
Hyperpigmentation With Or Without Hypopigmentation, Familial Progressive	Hyperkeratosis	OMIM:145250
Alport Syndrome-Intellectual Disability-Midface Hypoplasia-Elliptocytosis Syndrome	Glomerulopathy, Renal insufficiency, Proteinuria, Abnormal hair morphology, Microscopic hematuria	ORPHA:86818
Premature Aging Syndrome, Penttinen Type	Lipoatrophy, Thickened skin, Palmoplantar hyperkeratosis, Hyperkeratosis, Sparse hair, Keloids, J...	OMIM:601812
Koolen-De Vries Syndrome Due To A Point Mutation	Alopecia, Recurrent urinary tract infections, Hypospadias, Eczema, Testicular neoplasm, Cryptorch...	ORPHA:363965
17Q21.31 Microdeletion Syndrome	Alopecia, Recurrent urinary tract infections, Hypospadias, Eczema, Testicular neoplasm, Cryptorch...	ORPHA:363958
Rothmund-Thomson Syndrome	Calcinosis, Plantar hyperkeratosis, Porokeratosis, Skin rash, Abnormal dental enamel morphology, ...	ORPHA:2909
Parkes Weber Syndrome	Skin ulcer, Nephrotic syndrome, Abnormality of the urinary system, Urinary retention, Scaling ski...	ORPHA:90307
Blepharophimosis, Ptosis, And Epicanthus Inversus	Premature ovarian insufficiency, Highly arched eyebrow, Female infertility, Sparse pubic hair, Ir...	OMIM:110100
Palmoplantar Keratoderma, Punctate Type Ia	Orthokeratosis, Punctate palmoplantar hyperkeratosis, Hypergranulosis	OMIM:148600
Aymé-Gripp Syndrome	Sparse scalp hair, Pericarditis, Inguinal hernia, Proteinuria, Congenital diaphragmatic hernia, C...	ORPHA:1272
Biotinidase Deficiency	Alopecia, Skin rash, Hyperammonemia, Organic aciduria, Conjunctivitis, Eczematoid dermatitis, Dec...	ORPHA:79241
Amoebiasis Due To Free-Living Amoebae	Unusual skin infection, Sinusitis, Pneumonia, Pustule, Skin ulcer, Intrarenal abscess, Infectious...	ORPHA:68
Holoprosencephaly	Omphalocele, Hyponatremia, Hypoplasia of penis, Proteinuria, Highly arched eyebrow, Congenital di...	ORPHA:2162
Punctate Palmoplantar Keratoderma Type 1	Pancreatic adenocarcinoma, Hypergranulosis, Palmoplantar hyperkeratosis, Renal cell carcinoma, Pa...	ORPHA:79501
Generalized Glucocorticoid Resistance Syndrome	Increased urinary cortisol level, Acne, Frontal balding, Oligozoospermia, Hypokalemia, Oligomenor...	ORPHA:786
Brooke-Spiegler Syndrome	Skin ulcer	ORPHA:79493
Gaucher Disease Type 3	Hepatomegaly, Proteinuria, Splenomegaly, Hematuria, Increased circulating antibody level	ORPHA:77261
Lethal Acantholytic Erosive Disorder	Absent eyebrow, Acantholysis, Absent eyelashes, Congenital alopecia totalis, Camptodactyly of toe...	ORPHA:158687
Hellp Syndrome	Elevated hepatic transaminase, Proteinuria, Hemoglobinuria, Increased circulating lactate dehydro...	ORPHA:244242
Junctional Epidermolysis Bullosa With Pyloric Atresia	Urethral stricture, Recurrent skin infections, Urinary bladder inflammation, Hydronephrosis, Hema...	ORPHA:79403
Marburg Hemorrhagic Fever	Elevated hepatic transaminase, Pericarditis, Renal insufficiency, Skin rash, Maculopapular exanth...	ORPHA:99826
White Sponge Nevus 2	Hyperparakeratosis	OMIM:615785
Immunodeficiency 31C	Hepatomegaly, Autoimmune hemolytic anemia, Osteomyelitis, Eczema, Decreased lymphocyte proliferat...	OMIM:614162
Yellow Fever	Acute pancreatitis, Increased circulating interleukin 6 concentration, Skin rash, Elevated circul...	ORPHA:99829
Familial Keratoacanthoma	Hyperkeratosis, Skin ulcer	ORPHA:493
Tylosis With Esophageal Cancer	Diffuse palmoplantar hyperkeratosis, Parakeratosis, Follicular hyperkeratosis	OMIM:148500
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency	Hyponatremia, Acne, Hypogonadotropic hypogonadism, Frontal balding, Renal salt wasting, Abnormali...	ORPHA:90794
Williams Syndrome	Hypoplasia of penis, Elevated circulating creatine kinase concentration, Redundant skin, Abnormal...	ORPHA:904
Noonan Syndrome 2	Curly hair, Sparse eyebrow, Cryptorchidism, Low posterior hairline, Hyperkeratosis, Palmoplantar ...	OMIM:605275
Renal Agenesis	Renal insufficiency, Renal agenesis, Proteinuria, Unilateral renal agenesis, Ureteral agenesis, A...	ORPHA:411709
Pachyonychia Congenita 1	Follicular hyperkeratosis, Nail dystrophy, Palmoplantar hyperkeratosis	OMIM:167200
Plague	Chapped lip, Hepatomegaly, Skin rash, Erythema nodosum, Lymphadenitis, Splenomegaly, Enterocoliti...	ORPHA:707
Squamous Cell Carcinoma Of The Anal Canal	Neoplasm of the liver, Skin ulcer	ORPHA:424019
Atherosclerosis, Premature, With Deafness, Nephropathy, Diabetes Mellitus, Photomyoclonus, And Degenerative Neurologic Disease	Nephropathy, Proteinuria, Renal artery stenosis	OMIM:209010
Wagro Syndrome	Nephroblastoma, Proteinuria, Decreased testicular size	OMIM:612469
Severe Generalized Junctional Epidermolysis Bullosa	Urethral stricture, Abnormal blood ion concentration, Renal cyst, Gastrointestinal inflammation, ...	ORPHA:79404
Infantile Systemic Hyalinosis	Thickened skin, Camptodactyly of finger, Skin ulcer	ORPHA:2176
Good Syndrome	Recurrent urinary tract infections, Sinusitis, Recurrent skin infections, Bronchiectasis, Decreas...	ORPHA:169105
Tyrosinemia Type 2	Hyperkeratosis, Palmoplantar keratoderma, Hyperhidrosis	ORPHA:28378
Kanzaki Disease	Increased urinary O-linked sialopeptides, Hyperkeratosis, Aminoaciduria, Dry skin, Petechiae	OMIM:609242
Familial Tumoral Calcinosis	Hepatomegaly, Skin rash, Splenomegaly, Erythema, Hyperhidrosis, Nephrocalcinosis	ORPHA:53715
Singleton-Merten Syndrome 2	Hyperkeratosis, Psoriasiform lesion	OMIM:616298
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 1	Inguinal hernia, Recurrent pneumonia, Excessive wrinkled skin, Bladder diverticulum, Follicular h...	OMIM:225400
Familial Multiple Nevi Flammei	Skin ulcer	ORPHA:624
Orofaciodigital Syndrome I	Alopecia, Dry hair, Proteinuria, Pancreatic cysts, Hepatic fibrosis, Polycystic kidney dysplasia,...	OMIM:311200
Insensitivity To Pain, Congenital, With Anhidrosis	Anhidrosis, Sparse scalp hair, Osteomyelitis, Keratitis, Corneal scarring, Nail dystrophy, Acral ...	OMIM:256800
Cushing Syndrome Due To Ectopic Acth Secretion	Increased urinary cortisol level, Sparse scalp hair, Striae distensae, Pancreatic adenocarcinoma,...	ORPHA:99889
Oculocutaneous Albinism Type 1A	Hyperkeratosis, Thickened skin, Hypopigmentation of hair, Albinism	ORPHA:79431
Noonan Syndrome 10	Curly hair, Sparse eyebrow, Cryptorchidism, Hyperkeratosis, Palmoplantar cutis laxa	OMIM:616564
Sapho Syndrome	Psoriasiform dermatitis, Acne, Osteomyelitis, Skin rash, Recurrent skin infections, Pustule, Syno...	ORPHA:793
Adult Syndrome	Sparse scalp hair, Alopecia, Absent nipple, Skin ulcer, Fine hair, Hypoplastic nipples, Dry skin,...	ORPHA:978
Mullerian Aplasia And Hyperandrogenism	Primary amenorrhea, Unilateral renal agenesis, Acne, Hirsutism	OMIM:158330
Ramon Syndrome	Hyperkeratosis, Juvenile rheumatoid arthritis, Hypertrichosis	OMIM:266270
Neonatal Inflammatory Skin And Bowel Disease	Recurrent bacterial skin infections, Chapped lip, Psoriasiform dermatitis, Pustule, Erythema, Hor...	ORPHA:294023
Cystinosis, Late-Onset Juvenile Or Adolescent Nephropathic Type	Proteinuria, Stage 5 chronic kidney disease	OMIM:219900
Pure Mitochondrial Myopathy	Recurrent myoglobinuria	ORPHA:254854
Immunodeficiency 55	Dry skin, Recurrent skin infections, Eczema, Ichthyosis	OMIM:617827
Ovarian Dysgenesis 3	Primary amenorrhea, Female infertility	OMIM:614324
Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2	Chronic gastritis, Increased circulating interleukin 6 concentration, Skin rash, Elevated circula...	OMIM:301074
Alacrima, Achalasia, And Impaired Intellectual Development Syndrome	Hyperkeratosis, High anterior hairline, Hypohidrosis	OMIM:615510
De Sanctis-Cacchione Syndrome	Keratitis, Bilateral cryptorchidism, Parakeratosis, Conjunctivitis	OMIM:278800
Restrictive Dermopathy 1	Ureteral duplication, Limb joint contracture, Sparse eyelashes, Short nail, Hypospadias, Absent e...	OMIM:275210
Odontochondrodysplasia 2 With Hearing Loss And Diabetes	Pruritus, Hydronephrosis, Periodontitis, Moderate albuminuria, Dentinogenesis imperfecta	OMIM:619269
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 2	Inguinal hernia, Cutis laxa, Bladder diverticulum, Atrophic scars, Follicular hyperkeratosis, Umb...	OMIM:614557
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome	Abnormality of the spleen, Splenomegaly, Skin ulcer, Hepatosplenomegaly, Azoospermia, Hepatic fib...	ORPHA:2072
Attenuated Chédiak-Higashi Syndrome	Skin ulcer	ORPHA:352723
Thrombocytopenia 1	Increased circulating IgE level, Eczema, Petechiae, Increased circulating IgA level	OMIM:313900
Global Developmental Delay-Osteopenia-Ectodermal Defect Syndrome	Abnormality of hair texture, Hypophosphaturia, Thickened skin, Synophrys, Hypoplastic sweat gland...	ORPHA:73223
Restrictive Dermopathy	Ureteral duplication, Multiple joint contractures, Hypospadias, Camptodactyly of finger, Short na...	ORPHA:1662
Sarcoidosis	Hepatomegaly, Alopecia, Renal insufficiency, Maculopapular exanthema, Scarring, Hypercalcemia, Po...	ORPHA:797
Paroxysmal Nocturnal Hemoglobinuria 2	Paroxysmal nocturnal hemoglobinuria	OMIM:615399
Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome Plus	Streak ovary, Premature ovarian insufficiency, Hypergonadotropic hypogonadism, Highly arched eyeb...	ORPHA:572333
Hemolytic Anemia, Cd59-Mediated, With Or Without Immune-Mediated Polyneuropathy	Paroxysmal nocturnal hemoglobinuria	OMIM:612300
Pmm2-Cdg	Elevated hepatic transaminase, Pericarditis, Multiple joint contractures, Lipodystrophy, Proteinu...	ORPHA:79318
Neuropathy, Hereditary Sensory And Autonomic, Type Iia	Episodic hyperhidrosis, Acral ulceration, Anhidrosis	OMIM:201300
Mosaic Variegated Aneuploidy Syndrome 7 With Inflammation And Tumor Predisposition	Lipoma, Hyperkeratosis	OMIM:620189
Uridine 5-Prime Monophosphate Hydrolase Deficiency, Hemolytic Anemia Due To	Hemoglobinuria	OMIM:266120
6Q Terminal Deletion Syndrome	Hypospadias, Highly arched eyebrow, Phimosis, Low anterior hairline, Hyperkeratosis	ORPHA:75857
Paroxysmal Nocturnal Hemoglobinuria 1	Paroxysmal nocturnal hemoglobinuria	OMIM:300818
Chondrodysplasia Punctata, Autosomal Dominant	Hip contracture, Hyperkeratosis with erythema, Knee flexion contracture, Coarse hair, Sparse hair	OMIM:118650
Kyphoscoliotic Ehlers-Danlos Syndrome	Inguinal hernia, Synophrys, Atypical scarring of skin, Bladder diverticulum, Follicular hyperkera...	ORPHA:536545
Cowden Syndrome	Abnormal penis morphology, Abnormality of the kidney, Renal cell carcinoma, Palmoplantar keratode...	ORPHA:201
Split Cord Malformation	Neurogenic bladder, Renal duplication, Urinary incontinence, Hypospadias, Detrusor sphincter dyss...	ORPHA:573278
Microcephaly, Epilepsy, And Diabetes Syndrome 1	Elevated hepatic transaminase, Cryptorchidism, Jaundice, Hypogonadism, Moderate albuminuria	OMIM:614231
Seizures, Scoliosis, And Macrocephaly/Microcephaly Syndrome	Sparse hair, Cryptorchidism, Proteinuria, Hiatus hernia	OMIM:616682
Epidermolysis Bullosa, Junctional 2C, Laryngoonychocutaneous	Enamel hypoplasia, Nail dystrophy, Skin ulcer, Amelogenesis imperfecta	OMIM:245660
Proteus Syndrome	Macroorchidism, Abnormal dental enamel morphology, Testicular neoplasm, Thickened skin, Abnormal ...	ORPHA:744
Charcot-Marie-Tooth Disease Type 4B2	Penetrating foot ulcers	ORPHA:99956
Warburg-Cinotti Syndrome	Ankle flexion contracture, Erythema, Elbow flexion contracture, Follicular hyperkeratosis, Flexio...	OMIM:618175
Alpha-N-Acetylgalactosaminidase Deficiency Type 2	Hyperkeratosis	ORPHA:79280
Adenocarcinoma Of The Anal Canal	Neoplasm of the liver, Skin ulcer	ORPHA:424016

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 Mta2

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 Mta2.

There are 1 publication which use IMPC produced mice or data.

Title	Journal	IMPC Allele	PubMed ID
The Nucleosome Remodelling and Deacetylation complex suppresses transcriptional noise during lineage commitment.	The EMBO journal (April 2019)	Mta2^{tm1a(EUCOMM)Wtsi}	PMC6576150

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
Mta2^{tm2e(EUCOMM)Wtsi}	Targeted, non-conditional allele	ES Cells
Mta2^{tm1e(EUCOMM)Hmgu}	Targeted, non-conditional allele	ES Cells
Mta2^{tm2a(EUCOMM)Wtsi}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors, ES Cells
Mta2^{tm1a(EUCOMM)Wtsi}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors, ES Cells
Mta2^{tm45416(L1L2_Bact_P)}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors
Mta2^{tm1e(EUCOMM)Wtsi}	Targeted, non-conditional allele	ES Cells
Mta2^{tm1(KOMP)Vlcg}	Reporter-tagged deletion allele (with selection cassette)	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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