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Gene: Tbk1 MGI:1929658

Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:

TANK-binding kinase 1

Synonyms:

1200008B05Rik

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 Tbk1 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 Tbk1 (5 diseases)
Human diseases predicted to be associated with Tbk1 (1160 diseases)

The table below shows human diseases associated to Tbk1 by orthology or direct annotation.

Disease	Matching phenotypes	Source
Herpes Simplex Virus Encephalitis	Elevated circulating C-reactive protein concentration, Leukocytosis, Hyponatremia, Neutrophilia, ...	ORPHA:1930
Encephalopathy, Acute, Infection-Induced (Herpes-Specific), Susceptibility To, 8	Herpes simplex encephalitis	OMIM:617900
Amyotrophic Lateral Sclerosis	Xerostomia	ORPHA:803
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 4		OMIM:616439
Frontotemporal Dementia With Motor Neuron Disease		ORPHA:275872

The table below shows human diseases predicted to be associated to Tbk1 by phenotypic similarity.

Disease	Matching phenotypes	Source
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency	Neonatal sepsis, Increased circulating antibody level, Decreased proportion of CD3-positive T cel...	ORPHA:169154
Immunodeficiency 64 With Lymphoproliferation	Autoimmune hemolytic anemia, Defective T cell proliferation, Cervical lymphadenopathy, Mediastina...	OMIM:618534
Immunodeficiency 15B	Chronic oral candidiasis, Monocytosis, Recurrent infections, Decreased circulating antibody level...	OMIM:615592
Ras-Associated Autoimmune Leukoproliferative Disorder	Hepatomegaly, Increased circulating antibody level, Recurrent respiratory infections, Pancytopeni...	OMIM:614470
Proteasome-Associated Autoinflammatory Syndrome 2	Lymphadenopathy, Elevated circulating C-reactive protein concentration, Increased circulating IgG...	OMIM:618048
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome	Pallor, Hepatomegaly, Splenomegaly	ORPHA:46532
Immunodeficiency 14B, Autosomal Recessive	Thrombocytosis, B lymphocytopenia, Leukocytosis, Decreased circulating IgG level, Inflammation of...	OMIM:619281
Immunodeficiency 10	Increased circulating IgG3 level, Autoimmune hemolytic anemia, Sepsis, Recurrent otitis media, Na...	OMIM:612783
Immunodeficiency With Hyper-Igm, Type 1	Dysgammaglobulinemia, Decreased circulating IgE, Sclerosing cholangitis, Impaired Ig class switch...	OMIM:308230
Immunodeficiency 25	Autoimmune hemolytic anemia, Recurrent candida infections, Increased circulating IgG level, Compl...	OMIM:610163
Diamond-Blackfan Anemia 18	Steroid-responsive anemia, Erythroid hypoplasia, Neutropenia	OMIM:618310
Hypohidrotic Ectodermal Dysplasia With Immunodeficiency	Nail dystrophy, Increased T cell count, Recurrent sinusitis, Sparse hair, Increased circulating I...	ORPHA:98813
Sting-Associated Vasculopathy, Infantile-Onset	Nail dystrophy, Anemia, Elevated circulating C-reactive protein concentration, Increased circulat...	OMIM:615934
Immunodeficiency 89 And Autoimmunity	Reduced circulating interleukin 23 concentration, Reduced circulating interleukin 22 concentratio...	OMIM:619632
Adult Idiopathic Neutropenia	Recurrent aphthous stomatitis, Recurrent infections, Increased circulating IgM level, Helicobacte...	ORPHA:2688
Immunodeficiency 102	Severe varicella zoster infection, Recurrent sinusitis, Leukopenia, Increased proportion of CD8-p...	OMIM:301082
Autoimmune Lymphoproliferative Syndrome, Type Iia	Splenomegaly, Decreased lymphocyte apoptosis, Increased circulating IgG level, Nephritis, Autoimm...	OMIM:603909
Autoimmune Lymphoproliferative Syndrome	Autoimmune hemolytic anemia, Reduced delayed hypersensitivity, Hepatomegaly, Iron deficiency anem...	OMIM:601859
Immunodeficiency 52	Defective T cell proliferation, Lymphadenopathy, Abnormal natural killer cell count, Persistent C...	OMIM:617514
Neutropenia, Severe Congenital, 1, Autosomal Dominant	Anemia, Increased circulating antibody level, Thrombocytosis, Congenital agranulocytosis, Acute m...	OMIM:202700
Caspase 8 Deficiency	Reduced CD95-induced lymphocyte apoptosis, Lymphadenopathy, Complete or near-complete absence of ...	OMIM:607271
Pgm3-Cdg	Chronic otitis media, Decreased proportion of CD3-positive T cells, Reduced antigen-specific T ce...	ORPHA:443811
Hyper-Ige Syndrome 5, Autosomal Recessive, With Recurrent Infections	Recurrent otitis media, Increased circulating interleukin 6 concentration, Decreased proportion o...	OMIM:618944
Histiocytosis, Familial Lipochrome	Recurrent infections, Increased alpha-globulin, Histiocytosis, Increased circulating antibody level	OMIM:235900
Severe Combined Immunodeficiency, X-Linked	Chronic oral candidiasis, Hepatomegaly, Impaired lymphocyte transformation with phytohemagglutini...	OMIM:300400
Immunodeficiency 91 And Hyperinflammation	Hepatomegaly, Hemophagocytosis, Recurrent lower respiratory tract infections, Lymphadenopathy, BC...	OMIM:619644
Immunodeficiency 51	Chronic oral candidiasis, Recurrent otitis media, Recurrent Staphylococcus aureus infections, Rec...	OMIM:613953
Immunodeficiency 50	Neutropenia, Lymphopenia, Eczematoid dermatitis	OMIM:300988
Immunodeficiency 97 With Autoinflammation	Hypertriglyceridemia, Granuloma, Splenomegaly, Lymphopenia, Monocytopenia, Reduced natural killer...	OMIM:619802
Immunodeficiency 112	BCGitis, Recurrent lower respiratory tract infections, Decreased proportion of gamma-delta T cell...	OMIM:620449
Autoinflammation With Arthritis And Dyskeratosis	Autoimmune hemolytic anemia, Hepatomegaly, Follicular hyperkeratosis, Elevated circulating C-reac...	OMIM:617388
Chronic Myeloid Leukemia	Myeloproliferative disorder, Leukocytosis, Abnormal granulocyte morphology, Thrombocytopenia, Spl...	ORPHA:521
Immunodeficiency, Common Variable, 2	Follicular hyperplasia, Recurrent otitis media, Hepatomegaly, Lymphadenopathy, Partial absence of...	OMIM:240500
Immunodeficiency 113 With Autoimmunity And Autoinflammation	Autoimmune hemolytic anemia, Hepatomegaly, Recurrent respiratory infections, Elevated circulating...	OMIM:620565
Immunodeficiency 105	Impaired lymphocyte transformation with phytohemagglutinin, Pancytopenia, B lymphocytopenia, Skin...	OMIM:619924
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency	Decreased proportion of CD3-positive T cells, Skin rash, Recurrent bacterial skin infections, Lym...	ORPHA:276
Immunodeficiency 18	Defective T cell proliferation, Recurrent otitis media, Recurrent respiratory infections, Decreas...	OMIM:615615
Neutropenia, Severe Congenital, 7, Autosomal Recessive	Neutropenia	OMIM:617014
Immunodeficiency, Common Variable, 3	Recurrent otitis media, Decreased proportion of class-switched memory B cells, Chronic decreased ...	OMIM:613493
Immunodeficiency, Common Variable, 1	Recurrent otitis media, Hepatomegaly, Lymphadenopathy, Decreased proportion of class-switched mem...	OMIM:607594
Autoinflammation, Panniculitis, And Dermatosis Syndrome	Panniculitis, Lymphadenopathy, Increased proportion of CD4-positive T cells, Elevated circulating...	OMIM:617099
Autoimmune Lymphoproliferative Syndrome	Increased circulating antibody level, Lymphocytosis, Reticulocytosis, Bone marrow hypocellularity...	ORPHA:3261
Autoimmune Lymphoproliferative Syndrome, Type Iii	Increased circulating antibody level, Recurrent sinusitis, Splenomegaly, Hepatosplenomegaly, Incr...	OMIM:615559
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant	Lymphadenopathy, Decreased proportion of class-switched memory B cells, Recurrent ear infections,...	OMIM:615513
Trichothiodystrophy 3, Photosensitive	Trichorrhexis nodosa, Ichthyosis, Brittle hair, Recurrent infections, Increased circulating IgA l...	OMIM:616395
Immunodeficiency 115 With Autoinflammation	Intestinal lymphangiectasia, Anemia, Partial absence of specific antibody response to Haemophilus...	OMIM:620632
Agammaglobulinemia 2, Autosomal Recessive	Abnormal T cell morphology, Recurrent otitis media, Recurrent respiratory infections, Recurrent p...	OMIM:613500
Agammaglobulinemia 4, Autosomal Recessive	Abnormal T cell morphology, Recurrent otitis media, Decreased circulating IgG level, Recurrent pn...	OMIM:613502
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity	Severe varicella zoster infection, T lymphocytopenia, Enlarged tonsils, Psoriasiform dermatitis, ...	OMIM:606367
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta	Recurrent abscess formation, Chronic oral candidiasis, Recurrent candida infections, Increased ci...	ORPHA:169160
Lymphoproliferative Syndrome, X-Linked, 2	Aplastic anemia, Hypertriglyceridemia, Hepatomegaly, Hemophagocytosis, Pancytopenia, Recurrent in...	OMIM:300635
Neutropenia, Lethal Congenital, With Eosinophilia	Eosinophilia, Neutropenia	OMIM:257100
Hyper-Ige Syndrome 3, Autosomal Recessive, With Recurrent Infections	Chronic oral candidiasis, Recurrent otitis media, Sterile abscess, Recurrent infections, Increase...	OMIM:618282
Immunodeficiency 33	Increased circulating IgA level, Decreased circulating total IgM, Pneumocystis jirovecii pneumoni...	OMIM:300636
Immunodeficiency 103, Susceptibility To Fungal Infections	Chronic oral candidiasis, Deep dermatophytosis, Lymphadenopathy, Abnormal natural killer cell cou...	OMIM:212050
Iga Pemphigus	Increased circulating IgA level, Monoclonal elevation of circulating IgA, Eosinophilia, Pustule, ...	ORPHA:555905
Thrombocytopenia With Elevated Serum Iga And Renal Disease	Increased circulating IgA level, Thrombocytopenia, Glomerulonephritis	OMIM:314000
Immunodeficiency 72 With Autoinflammation And Lymphoproliferation	Recurrent otitis media, Lymphadenopathy, Increased circulating IgG level, Herpes simplex encephal...	OMIM:618982
Immunodeficiency With Hyper-Igm, Type 3	Decreased circulating IgE, Impaired Ig class switch recombination, Decreased circulating IgG leve...	OMIM:606843
Familial Hemophagocytic Lymphohistiocytosis	Hypertriglyceridemia, Cholestatic liver disease, Skin rash, Splenomegaly, Abnormality of tumor ne...	ORPHA:540
Macrophage Activation Syndrome	Hypertriglyceridemia, Hepatomegaly, Increased circulating interleukin 6 concentration, Hemophagoc...	ORPHA:158061
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia	Decreased specific anti-polysaccharide antibody level, Recurrent otitis media, Mediastinal lympha...	OMIM:300853
Neutropenia, Severe Congenital, 2, Autosomal Dominant	B lymphocytopenia, Monocytosis, Neutropenia	OMIM:613107
Neutropenia, Nonimmune Chronic Idiopathic, Of Adults	Acute myeloid leukemia, Neutropenia	OMIM:607847
Immunodeficiency With Hyper-Igm, Type 2	Lymphadenopathy, Impaired Ig class switch recombination, Complete or near-complete absence of spe...	OMIM:605258
Immunodeficiency 78 With Autoimmunity And Developmental Delay	Autoimmune hemolytic anemia, Fluctuating splenomegaly, Recurrent otitis media, Recurrent lower re...	OMIM:619220
Autosomal Dominant Severe Congenital Neutropenia	Aplastic anemia, Acute myeloid leukemia, Recurrent aphthous stomatitis, Periodontitis, Recurrent ...	ORPHA:486
Immunodeficiency, Common Variable, 7	Decreased circulating total IgG, Chronic partially decreased circulating IgG1, Recurrent infectio...	OMIM:614699
B-Cell Expansion With Nfkb And T-Cell Anergy	Recurrent infections, Increased B cell count, Splenomegaly, Decreased circulating total IgM, Decr...	OMIM:616452
Hyper-Igd Syndrome	Chronic oral candidiasis, Lymphadenopathy, Recurrent infections, Arthritis, Increased circulating...	OMIM:260920
Immunodeficiency 32B	BCGitis, Hepatomegaly, Anemia, Recurrent infections, Abnormal circulating IgG level, Bronchiectas...	OMIM:226990
Chilblain Lupus	Increased circulating antibody level, Malar rash, Skin rash, Discoid lupus rash, Hyperkeratosis, ...	ORPHA:90280
Immunodeficiency With Hyper-Igm, Type 5	Lymphadenopathy, Impaired Ig class switch recombination, Decreased circulating IgG level, Increas...	OMIM:608106
Netherton Syndrome	Parakeratosis, Sepsis, Brittle hair, Increased circulating IgE level, Sparse scalp hair, Chronic ...	OMIM:256500
Acute Peripheral Arterial Occlusion	Absent ankle pulse, Supraventricular tachycardia, Abnormal capillary physiology, Abnormality of v...	ORPHA:90064
Agammaglobulinemia 8B, Autosomal Recessive	Anemia, Decreased circulating IgE, Pancytopenia, Recurrent infections, B lymphocytopenia, Increas...	OMIM:619824
Ectodermal Dysplasia And Immunodeficiency 1	Severe cytomegalovirus infection, Dysgammaglobulinemia, Aplasia of the eccrine sweat glands, Incr...	OMIM:300291
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation	Autoimmune hemolytic anemia, Sepsis, Hepatomegaly, Recurrent lower respiratory tract infections, ...	OMIM:616100
Agammaglobulinemia 6, Autosomal Recessive	Abnormal T cell morphology, Recurrent otitis media, B lymphocytopenia, Recurrent bronchitis, Decr...	OMIM:612692
Autoimmune Disease, Multisystem, Infantile-Onset, 3	Autoimmune hemolytic anemia, Recurrent otitis media, Increased circulating interleukin 6 concentr...	OMIM:620430
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia	Severe varicella zoster infection, T lymphocytopenia, Recurrent sinusitis, Leukopenia, Lymphopeni...	OMIM:618986
Immunodeficiency 48	Recurrent candida infections, Pneumocystis carinii pneumonia, Impaired lymphocyte transformation ...	OMIM:269840
Kerion Celsi	Lymphadenopathy, Inflammatory abnormality of the skin, Recurrent cutaneous abscess formation, Rec...	ORPHA:499
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency	Recurrent otitis media, B lymphocytopenia, Increased circulating IgE level, Lack of T cell functi...	ORPHA:277
Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency	Crohn's disease, Optic neuritis, Splenomegaly, Psoriasiform dermatitis, Thyroiditis, Decreased ci...	ORPHA:436159
Dissecting Cellulitis Of The Scalp	Edema, Recurrent skin infections, Pruritus, Abnormal hair morphology	ORPHA:345
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency	Decreased proportion of CD3-positive T cells, Skin rash, Reduced antigen-specific T cell prolifer...	ORPHA:331206
Lymphoproliferative Syndrome, X-Linked, 1	Aplastic anemia, Dysgammaglobulinemia, Lymphocytosis, Splenomegaly, Neutropenia, Pancytopenia, Fu...	OMIM:308240
Acne Inversa, Familial, 3	Recurrent cutaneous abscess formation, Acne inversa, Chronic furunculosis, Perifolliculitis	OMIM:613737
Myeloproliferative/Lymphoproliferative Neoplasms, Familial (Multiple Types), Susceptibility To	Acute myeloid leukemia, Monocytosis, Eczematoid dermatitis, Bone marrow hypocellularity, Leukopen...	OMIM:616871
Agammaglobulinemia 10, Autosomal Dominant	Recurrent respiratory infections, Decreased circulating IgG level, Recurrent sinusitis, Transient...	OMIM:619707
Immunodeficiency 11A	Recurrent respiratory infections, Pneumocystis jirovecii pneumonia, Decreased circulating antibod...	OMIM:615206
Immunodeficiency 60 And Autoimmunity	Decreased basophil count, Pancytopenia, Crohn's disease, Splenomegaly, Bronchiectasis, Decreased ...	OMIM:618394
Neutropenia, Chronic Familial	Periodontitis, Increased circulating antibody level, Neutropenia	OMIM:162700
Classic Mycosis Fungoides	Hepatomegaly, Lymphadenopathy, Abnormality of the nail, Hyperkeratosis, Skin rash, Abnormal lymph...	ORPHA:2584
Neutropenia, Severe Congenital, X-Linked	Monocytopenia, Neutropenia, Decreased CD4:CD8 ratio, Eczematoid dermatitis	OMIM:300299
X-Linked Sideroblastic Anemia	Pallor, Elevated circulating hepatic transaminase concentration, Splenomegaly	ORPHA:75563
Immunodeficiency 53	Recurrent otitis media, Impaired lymphocyte transformation with phytohemagglutinin, Recurrent uri...	OMIM:617585
Immunodeficiency 36 With Lymphoproliferation	Recurrent lower respiratory tract infections, Chronic lymphatic leukemia, Persistent CMV viremia,...	OMIM:616005
Immunodeficiency 85 And Autoimmunity	Decreased circulating IgE, Persistent EBV viremia, T lymphocytopenia, Decreased proportion of mem...	OMIM:619510
Immunodeficiency 104	Recurrent otitis media, Hepatomegaly, Failure to thrive secondary to recurrent infections, Lympha...	OMIM:608971
Hypotrichosis Simplex Of The Scalp	Slow-growing scalp hair, Parakeratosis, Alopecia of scalp, Hyperkeratosis, Increased circulating ...	ORPHA:90368
Severe Combined Immunodeficiency Due To Dclre1C Deficiency	Chronic oral candidiasis, Recurrent aphthous stomatitis, Decreased proportion of CD3-positive T c...	ORPHA:275
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity	Autoimmune hemolytic anemia, Recurrent otitis media, Ichthyosis, Lymphadenopathy, Hepatomegaly, P...	OMIM:618495
Immunodeficiency 70	Decreased circulating total IgG, B lymphocytopenia, Decreased circulating antibody level, Furuncl...	OMIM:618969
Agammaglobulinemia 7, Autosomal Recessive	Abnormal T cell morphology, Panhypogammaglobulinemia, Recurrent respiratory infections, Recurrent...	OMIM:615214
Immunodeficiency 88	Eosinophilia	OMIM:619630
Felty Syndrome	Rheumatoid arthritis, Splenomegaly, Neutropenia	OMIM:134750
Proteasome-Associated Autoinflammatory Syndrome 1	Premature graying of hair, Hypertriglyceridemia, Decreased HDL cholesterol concentration, Increas...	OMIM:256040
Immunodeficiency, Partial Combined, With Absence Of Hla Determinants And Beta-2-Microglobulin From Lymphocytes	Decreased circulating IgG level, Recurrent candida infections, Recurrent bacterial infections, T ...	OMIM:242870
Immunodeficiency 95	Increased circulating IgG3 level, Recurrent viral upper respiratory tract infections, Recurrent v...	OMIM:619773
Hypotrichosis 1	Abnormality of the nail, Sparse eyelashes, Sparse body hair, Sparse eyebrow, Sparse pubic hair, S...	OMIM:605389
Immunodeficiency By Defective Expression Of Mhc Class Ii	Recurrent Staphylococcus aureus infections, Panhypogammaglobulinemia, Sclerosing cholangitis, Ski...	ORPHA:572
Immunodeficiency 44	Abnormal circulating IgG level, Severe viral infection, Post-vaccination measles, Lymphopenia, De...	OMIM:616636
Aicardi-Goutieres Syndrome 6	Hepatomegaly, Chilblains, Thrombocytopenia, Splenomegaly, Increased circulating Interferon-alpha ...	OMIM:615010
Aquagenic Palmoplantar Keratoderma	Palmar pruritus, Atopic dermatitis, Orthokeratotic hyperkeratosis, Recurrent sinopulmonary infect...	ORPHA:498359
Palmoplantar Keratoderma, Norrbotten Recessive Type	Palmoplantar keratoderma, Hyperkeratosis, Recurrent cutaneous fungal infections	OMIM:244850
Immunoglobulin A Deficiency 2	Abnormal lymphocyte morphology, Decreased circulating IgA level, Recurrent infection of the gastr...	OMIM:609529
Activated Pi3K-Delta Syndrome	Severe cytomegalovirus infection, Recurrent otitis media, Severe Epstein Barr virus infection, Ly...	ORPHA:397596
Angiostrongyliasis	Increased circulating IgG level, Increased circulating IgA level, Increased circulating IgM level...	ORPHA:74
Immunodeficiency 27A	Anemia, Lymphadenopathy, Increased circulating IgG level, Salmonella osteomyelitis, Leukocytosis,...	OMIM:209950
Wiskott-Aldrich Syndrome	Impaired lymphocyte transformation with phytohemagglutinin, Recurrent sinusitis, Lymphopenia, Rec...	OMIM:301000
Hyper-Ige Syndrome 4A, Autosomal Dominant, With Recurrent Infections	Increased circulating IgE level, Chronic mucocutaneous candidiasis, Recurrent upper respiratory t...	OMIM:619752
Hidrotic Ectodermal Dysplasia	Nail dystrophy, Small nail, Thickened skin, Generalized hypotrichosis, Sparse axillary hair, Spar...	ORPHA:189
Postinfectious Vasculitis	Recurrent Staphylococcus aureus infections, Increased circulating antibody level, Abnormal circul...	ORPHA:48435
Sweet Syndrome	Increased circulating interleukin 6 concentration, Acute myeloid leukemia, Anemia, Chronic lympha...	ORPHA:3243
Tularemia	Pneumonia, Anemia, Increased circulating antibody level, Mediastinal lymphadenopathy, Inflammator...	ORPHA:3392
Juvenile Temporal Arteritis	Eosinophilia, Leukocytosis, Allergic rhinitis, Conjunctivitis	ORPHA:26137
Methylmalonic Acidemia With Homocystinuria, Type Cbld	Pallor	ORPHA:79283
Cone-Rod Dystrophy 11	Pallor	OMIM:610381
Evans Syndrome	Jaundice, Petechiae, Epistaxis, Syncope, Bruising susceptibility, Pallor	ORPHA:1959
Immunodeficiency 43	Lung abscess, B lymphocytopenia, Hypoproteinemia, Bronchiectasis, Decreased circulating IgG level...	OMIM:241600
Ichthyosis, Congenital, Autosomal Recessive 13	Ichthyosis, Hyperkeratosis, Onychomycosis, Palmoplantar hyperkeratosis, Hypergranulosis	OMIM:617574
Asthma, Short Stature, And Elevated Iga	Increased circulating IgA level	OMIM:208600
Selective Igm Deficiency	Decreased proportion of CD3-positive T cells, Crohn's disease, Decreased proportion of transition...	ORPHA:331235
Combined Immunodeficiency, X-Linked	Pneumocystis carinii pneumonia, Decreased proportion of CD8-positive T cells, Abnormal natural ki...	OMIM:312863
Immunodeficiency, Common Variable, 8, With Autoimmunity	Chronic neutropenia, Decreased specific antibody response to vaccination, Recurrent sinusitis, Sp...	OMIM:614700
Immunodeficiency 109 With Lymphoproliferation	Hypertriglyceridemia, Recurrent lower respiratory tract infections, Pancytopenia, Complete or nea...	OMIM:620282
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis	Autoimmune hemolytic anemia, Increased circulating antibody level, Plasmacytosis, Lymphopenia, Pn...	OMIM:247800
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2	Recurrent candida infections, Recurrent infections, B lymphocytopenia, Decreased circulating anti...	OMIM:614069
Benign Cephalic Histiocytosis	Skin rash, Inflammatory abnormality of the skin, Histiocytosis	ORPHA:157997
Peripheral Cone Dystrophy	Pallor	OMIM:609021
Insulin-Resistance Syndrome Type B	Abnormal circulating lipid concentration, Acanthosis nigricans, Hypotriglyceridemia, Increased ci...	ORPHA:2298
Odonto-Onycho Dysplasia-Alopecia Syndrome	Sparse body hair, Sparse eyebrow, Abnormal fingernail morphology, Sparse hair, Hypoplastic toenai...	ORPHA:2722
Erythrokeratodermia Variabilis Et Progressiva 5	Hyperkeratosis, Abnormal hair morphology, Onychogryposis, Palmoplantar hyperkeratosis	OMIM:617756
Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency	Skin rash, Psoriasiform dermatitis, Cholecystitis, Allergic rhinitis, Cholangitis, Recurrent tons...	ORPHA:183675
Combined Immunodeficiency Due To Dock8 Deficiency	Chronic otitis media, Recurrent candida infections, B lymphocytopenia, Increased circulating IgE ...	ORPHA:217390
Netherton Syndrome	Trichorrhexis nodosa, Ichthyosis, Acanthosis nigricans, Abnormal hair morphology, Recurrent infec...	ORPHA:634
Acute Lung Injury	Abnormal circulating cytokine concentration, Sepsis, Increased circulating interleukin 6 concentr...	ORPHA:178320
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome	Reduced delayed hypersensitivity, Decreased proportion of CD8-positive T cells, Increased circula...	OMIM:617241
Immunodeficiency, Common Variable, 14	Decreased proportion of class-switched memory B cells, Decreased specific antibody response to va...	OMIM:617765
Immunodeficiency 92	Recurrent oral herpes, Abnormal B cell proliferation, Thrombocytosis, Sclerosing cholangitis, Dec...	OMIM:619652
Trimethylaminuria	Recurrent pneumonia, Anemia, Splenomegaly, Neutropenia	OMIM:602079
Neutropenia, Severe Congenital, 5, Autosomal Recessive	Enlarged kidney, Hepatomegaly, Anemia, Increased circulating antibody level, Recurrent infections...	OMIM:615285
Immunodeficiency, Common Variable, 11	Decreased proportion of class-switched memory B cells, Crohn's disease, Increased circulating IgE...	OMIM:615767
Neutropenia, Severe Congenital, 10, Autosomal Recessive	Anorectal abscess, Anemia, Thrombocytopenia, Monocytosis, Neutropenia	OMIM:620534
Primary Biliary Cholangitis	Abnormal circulating lipid concentration, Ascites, Onychomycosis, Biliary cirrhosis, Splenomegaly...	ORPHA:186
Eosinophil Peroxidase Deficiency	Eosinophil nuclear hypersegmentation	OMIM:261500
Mannose-Binding Lectin Deficiency	Recurrent Klebsiella infections, Disseminated cryptosporidium infection, Recurrent meningococcal ...	OMIM:614372
Hyper-Ige Syndrome 2, Autosomal Recessive, With Recurrent Infections	Sclerosing cholangitis, Molluscum contagiosum, Recurrent sinusitis, Reduced natural killer cell c...	OMIM:243700
Immunodeficiency, Common Variable, 10	Recurrent otitis media, Recurrent oral herpes, Recurrent viral upper respiratory tract infections...	OMIM:615577
Transcobalamin Deficiency	Pancytopenia, Decreased circulating antibody level, Decreased circulating IgG level, Thrombocytop...	ORPHA:859
Anonychia With Flexural Pigmentation	Alopecia of scalp, Abnormal hair morphology, Hyperkeratosis, Anonychia, Follicular hyperkeratosis	ORPHA:69125
Immunodeficiency Due To Interleukin-1 Receptor-Associated Kinase-4 Deficiency	Neutropenia	ORPHA:70592
Breath-Holding Spells	Pallor	OMIM:607578
Hemophagocytic Lymphohistiocytosis, Familial, 4	Hypertriglyceridemia, Jaundice, Anemia, Hemophagocytosis, Lymphadenopathy, Hepatomegaly, Skin ras...	OMIM:603552
Graham Little-Piccardi-Lassueur Syndrome	Perifollicular hyperkeratosis, Sparse scalp hair, Sparse pubic hair, Sparse axillary hair, Prurit...	ORPHA:505
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency	Chronic oral candidiasis, Acute otitis media, Impaired lymphocyte transformation with phytohemagg...	ORPHA:35078
Immunodeficiency 114, Folate-Responsive	Hypertriglyceridemia, Hepatomegaly, Recurrent lower respiratory tract infections, Increased circu...	OMIM:620603
Vulvovaginal Gingival Syndrome	Parakeratosis, Abnormality of tumor necrosis factor secretion, Pruritus, Ridged nail	ORPHA:83453
Immunodeficiency 11B With Atopic Dermatitis	Severe cytomegalovirus infection, Pneumonia, Decreased circulating total IgM, Increased circulati...	OMIM:617638
X-Linked Severe Congenital Neutropenia	Monocytopenia, Neutropenia	ORPHA:86788
Immunodeficiency 69	BCGitis, Increased circulating ferritin concentration, Anemia, Hemophagocytosis, Pancytopenia, BC...	OMIM:618963
Irida Syndrome	Pallor, Intrahepatic cholestasis	ORPHA:209981
Schnitzler Syndrome	Hepatomegaly, Anemia, Lymphadenopathy, Arthritis, Skin rash, Leukocytosis, Increased circulating ...	ORPHA:37748
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency	Skin rash, Sinusitis, Splenomegaly, Aplasia of the thymus, Lymphopenia, Decreased circulating IgG...	OMIM:102700
Reticular Dysgenesis	Chronic otitis media, Sepsis, Anemia, Skin rash, Decreased circulating antibody level, Dehydratio...	ORPHA:33355
Poikiloderma With Neutropenia	Nail dystrophy, Recurrent otitis media, Skin rash, Hyperkeratosis, Elevated circulating creatine ...	OMIM:604173
Immunodeficiency, Developmental Delay, And Hypohomocysteinemia	Recurrent lower respiratory tract infections, Hypocystinemia, Decreased circulating antibody leve...	OMIM:617744
Nevoid Hypermelanosis, Linear And Whorled	Eosinophilia	OMIM:614323
Familial Reactive Perforating Collagenosis	Perifolliculitis, Inflammatory abnormality of the skin, Pruritus, Hyperkeratotic papule, Crusting...	ORPHA:79147
Immunodeficiency Due To Selective Anti-Polysaccharide Antibody Deficiency	Complete or near-complete absence of specific antibody response to Haemophilus influenzae type b ...	ORPHA:70593
Ichthyosis Hystrix Of Curth-Macklin	Nail dystrophy, Ichthyosis, Diffuse palmoplantar hyperkeratosis, Hyperkeratosis, Recurrent skin i...	ORPHA:79503
Acute Myelomonocytic Leukemia	Abnormal bleeding, Pallor	ORPHA:517
Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige	Ichthyosis, Palmoplantar keratoderma, Recurrent respiratory infections, Increased circulating IgE...	OMIM:615508
Hypotrichosis 10	Abnormality of the nail, Sparse scalp hair, Sparse eyelashes, Sparse body hair, Sparse eyebrow	OMIM:614238
Agammaglobulinemia, X-Linked	Decreased circulating IgE, T lymphocytopenia, Recurrent sinusitis, Lymph node hypoplasia, Neutrop...	OMIM:300755
Hyperimmunoglobulinemia D With Periodic Fever	Hepatomegaly, Lymphadenopathy, Recurrent aphthous stomatitis, Arthritis, Increased circulating Ig...	ORPHA:343
Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia	Hepatomegaly, Recurrent urinary tract infections, Decreased circulating IgG level, Leukopenia, Sp...	OMIM:620210
Immunodeficiency 96	Defective T cell proliferation, Recurrent otitis media, Recurrent lower respiratory tract infecti...	OMIM:619774
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation	BCGitis, Pneumonia, Sepsis, Alopecia of scalp, Hepatomegaly, Panhypogammaglobulinemia, Aplasia of...	OMIM:602450
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome	Recurrent abscess formation, Panhypogammaglobulinemia, Ascites, T lymphocytopenia, Recurrent aspi...	ORPHA:79124
Elliptocytosis 1	Pallor, Jaundice, Splenomegaly	OMIM:611804
Primary Intestinal Lymphangiectasia	Decreased proportion of CD3-positive T cells, Hypoproteinemia, Ascites, Opportunistic infection, ...	ORPHA:90362
Lymphoproliferative Syndrome 2	Aplastic anemia, EBV encephalitis, Sepsis, Hepatomegaly, Hemophagocytosis, Lymphadenopathy, Pancy...	OMIM:615122
Persistent Polyclonal B-Cell Lymphocytosis	Hepatomegaly, Lymphocytosis, Recurrent infections, Splenomegaly, Decreased circulating total IgM	OMIM:606445
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 2	Pallor, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Hypertrophic cardi...	OMIM:613561
Mendelian Susceptibility To Mycobacterial Diseases Due To Complete Il12Rb1 Deficiency	Recurrent Klebsiella infections, Recurrent candida infections, BCGosis, Salmonella osteomyelitis,...	ORPHA:319552
Dystrophic Epidermolysis Bullosa Pruriginosa	Nail dystrophy, Hyperkeratosis, Increased circulating IgE level, Abnormal toenail morphology, Pru...	ORPHA:89843
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease	Hypertriglyceridemia, Anemia, Hemophagocytosis, Lymphadenopathy, Decreased circulating antibody l...	OMIM:613101
Neutropenia, Severe Congenital, 4, Autosomal Recessive	Perianal abscess, Neonatal sepsis, Leukopenia, Splenomegaly, Lymphopenia, Neutropenia, Hepatosple...	OMIM:612541
Proteasome-Associated Autoinflammatory Syndrome 3	Hypertriglyceridemia, Hepatomegaly, Anemia, Increased circulating antibody level, Panniculitis, A...	OMIM:617591
Immunodeficiency, Common Variable, 12, With Autoimmunity	Autoimmune hemolytic anemia, Recurrent infections, Decreased circulating antibody level, Recurren...	OMIM:616576
Hypotrichosis Simplex	Sparse scalp hair, Sparse eyelashes, Sparse body hair, Sparse eyebrow, Sparse hair, Alopecia	ORPHA:55654
Sézary Syndrome	Nail dystrophy, Palmoplantar keratoderma, Hepatomegaly, Abnormal immunoglobulin level, Lymphadeno...	ORPHA:3162
Palmoplantar Keratoderma, Nonepidermolytic, Focal 1	Palmoplantar keratoderma, Congenital bullous ichthyosiform erythroderma, Perioral hyperkeratosis,...	OMIM:613000
Immunodeficiency, Ovarian Dysgenesis, And Pulmonary Fibrosis	Decreased proportion of CD8-positive T cells, Abnormality of the tonsils, Decreased circulating I...	OMIM:611926
Beta-Thalassemia	Hepatomegaly, Skin ulcer, Cholelithiasis, Hypertrophic cardiomyopathy, Splenomegaly, Pallor, Hepa...	ORPHA:848
Anemia, Sideroblastic, 5	Reduced hematocrit, Hypochromic microcytic anemia, Anemia, Thrombocytopenia, Neutropenia	OMIM:619523
Lymphoproliferative Syndrome 1	Autoimmune hemolytic anemia, Hepatomegaly, Anemia, Hemophagocytosis, Lymphadenopathy, Pancytopeni...	OMIM:613011
Hypotrichosis 11	Aplasia/Hypoplasia of the eyebrow, Sparse or absent eyelashes, Sparse hair, Absent axillary hair,...	OMIM:615059
Insulin-Resistance Syndrome Type A	Hyperkeratosis, Generalized hirsutism	ORPHA:2297
Immunoglobulin A Deficiency 1	Recurrent infections, Recurrent respiratory infections, Decreased circulating IgA level, Recurren...	OMIM:137100
Ichthyosis-Hypotrichosis Syndrome	Ichthyosis, Sparse hair	ORPHA:91132
Anemia, Congenital Dyserythropoietic, Type Ib	Pallor, Jaundice, Splenomegaly, Hepatomegaly	OMIM:615631
Verrucous Hemangioma	Hyperkeratotic papule, Inflammatory abnormality of the skin	ORPHA:464318
Parana Hard Skin Syndrome	Thickened skin, Hyperkeratosis, Generalized hirsutism	ORPHA:2812
Hb Bart'S Hydrops Fetalis	Congestive heart failure, Hepatomegaly, Pericarditis, Splenomegaly, Pallor	ORPHA:163596
Immunodeficiency 22	Chronic oral candidiasis, Anemia, Decreased circulating IgE, Panniculitis, Recurrent lower respir...	OMIM:615758
Dermatitis, Atopic	Pallor, Facial erythema, Dry skin	OMIM:603165
Mental Retardation, Microcephaly, Growth Retardation, Joint Contractures, And Facial Dysmorphism	Widow's peak, Thick eyebrow, Atopic dermatitis, Sparse hair	OMIM:606242
Adult Acute Respiratory Distress Syndrome	Pulmonary edema, Sepsis, Pancreatitis, Increased circulating interleukin 6 concentration, Abnorma...	ORPHA:70578
Ichthyosis, Lamellar, Autosomal Dominant	Hyperkeratosis, Congenital nonbullous ichthyosiform erythroderma, Pruritus	OMIM:146750
Immunodeficiency 57 With Autoinflammation	Perianal abscess, Gastritis, B lymphocytopenia, Skin rash, Decreased circulating antibody level, ...	OMIM:618108
Porokeratosis Of Mibelli	Hyperkeratosis, Porokeratosis, Pruritus	ORPHA:735
Palmoplantar Keratoderma, Nagashima Type	Orthokeratotic hyperkeratosis, Hypergranulosis, Palmoplantar hyperhidrosis, Palmoplantar hyperker...	OMIM:615598
Autosomal Recessive Generalized Epidermolysis Bullosa Simplex	Ridged nail, Hyperkeratosis, Dystrophic toenail, Absent toenail, Abnormal fingernail morphology, ...	ORPHA:89838
Benign Paroxysmal Torticollis Of Infancy	Pallor	ORPHA:71518
Multiple Myeloma	Anemia, Lymphadenopathy, Increased circulating IgG level, Increased circulating IgA level, Decrea...	ORPHA:29073
Immunodeficiency 86	Decreased circulating IgG level, Increased circulating IgM level, BCGitis, Impaired oxidative burst	OMIM:619549
Simple Cryoglobulinemia	Monoclonal elevation of IgG, Chronic lymphatic leukemia, Arthritis, Monoclonal elevation of circu...	ORPHA:91139
Leishmaniasis	Hepatomegaly, Anemia, Increased circulating antibody level, Lymphadenopathy, Pancytopenia, Abnorm...	ORPHA:507
Lymphoma, Hodgkin, Classic	Polyclonal elevation of IgM, Impaired lymphocyte transformation with phytohemagglutinin	OMIM:236000
Ichthyosis, Hystrix-Like, With Deafness	Ichthyosis, Palmoplantar keratoderma, Scarring alopecia of scalp, Hyperkeratosis, Absent eyelashe...	OMIM:602540
Rothmund-Thomson Syndrome, Type 1	Nail dystrophy, Recurrent otitis media, Thin nail, Absent eyelashes, Hyperkeratosis, Absent eyebr...	OMIM:618625
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome	Nail dystrophy, Splenomegaly, Abnormal blood ion concentration, Psoriasiform dermatitis, Neutrope...	ORPHA:37042
Prolidase Deficiency	Hepatomegaly, Anemia, Increased circulating antibody level, Facial hirsutism, Recurrent infection...	OMIM:170100
Hyper-Ige Syndrome 6, Autosomal Dominant, With Recurrent Infections	Increased circulating IgE level, Atopic dermatitis, Eosinophilic infiltration of the esophagus, R...	OMIM:620532
Hyperinsulinism Due To Ucp2 Deficiency	Hepatomegaly, Diffuse pancreatic islet hyperplasia, Tachycardia, Hypertrophic cardiomyopathy, Syn...	ORPHA:276556
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency	Hepatomegaly, Diffuse pancreatic islet hyperplasia, Tachycardia, Hypertrophic cardiomyopathy, Foc...	ORPHA:276575
Bone Marrow Failure Syndrome 4	Anemia, Decreased circulating antibody level, Eczematoid dermatitis, Bone marrow hypocellularity,...	OMIM:618116
Congenital Disorder Of Glycosylation, Type Iil	Decreased specific anti-polysaccharide antibody level, Cirrhosis, Hepatomegaly, Pancytopenia, Rec...	OMIM:614576
Palmoplantar Keratoderma, Epidermolytic, 1	Localized epidermolytic hyperkeratosis, Increased circulating IgE level, Palmoplantar hyperkerato...	OMIM:144200
Immunodeficiency 15A	Recurrent otitis media, Decreased proportion of CD8-positive T cells, Chronic mucocutaneous candi...	OMIM:618204
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked	Anemia, Lymphadenopathy, Arthritis, Increased circulating IgE level, Decreased FOXP3-expressing T...	OMIM:304790
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive	Failure to thrive secondary to recurrent infections, Panhypogammaglobulinemia, Recurrent opportun...	OMIM:601457
Optic Atrophy 7 With Or Without Auditory Neuropathy	Pallor, Hypertrophic cardiomyopathy	OMIM:612989
Immunodeficiency 9	BCGitis, Recurrent aphthous stomatitis, Abnormal natural killer cell count, Stomatitis, Recurrent...	OMIM:612782
Mu-Heavy Chain Disease	Hepatomegaly, Anemia, Lymphadenopathy, Increased circulating antibody level, Splenomegaly, Abnorm...	ORPHA:100024
Myelofibrosis	Splenomegaly, Purpura, Hepatomegaly, Pallor	OMIM:254450
Immune Deficiency, Familial Variable	Recurrent infections, Decreased circulating IgG level, Decreased circulating IgA level	OMIM:146830
Alpha-Heavy Chain Disease	Dysgammaglobulinemia, Hepatomegaly, Anemia, Lymphadenopathy, Hypocalcemia, Ascites, Splenomegaly,...	ORPHA:100025
Alopecia-Epilepsy-Pyorrhea-Intellectual Disability Syndrome	Periodontitis, Abnormal eyelash morphology, Sparse scalp hair, Sparse body hair, Alopecia univers...	ORPHA:1008
Inflammatory Skin And Bowel Disease, Neonatal, 2	Polyhydramnios, Increased circulating IgE level, Dehydration, Long eyelashes, Pustule, Recurrent ...	OMIM:616069
Intellectual Developmental Disorder, X-Linked, Syndromic, Chudley-Schwartz Type	Hirsutism, Synophrys, Decreased circulating IgG level, Decreased circulating total IgM, Decreased...	OMIM:300861
Pyruvate Kinase Deficiency Of Red Cells	Jaundice, Hepatomegaly, Reduced red cell pyruvate kinase level, Cholelithiasis, Splenomegaly, Pal...	OMIM:266200
Hyper-Ige Syndrome 4B, Autosomal Recessive, With Recurrent Infections	Recurrent otitis media, Increased circulating IgE level, Eczematoid dermatitis, Keratitis, Bronch...	OMIM:618523
Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia	Macrocytic anemia, Pancytopenia, Hypersegmentation of neutrophil nuclei, Recurrent infections, Me...	OMIM:617780
Macroglobulinemia, Waldenstrom, Susceptibility To, 1	Monoclonal immunoglobulin M proteinemia, Polyclonal elevation of IgM, Impaired lymphocyte transfo...	OMIM:153600
Proteasome-Associated Autoinflammatory Syndrome 5	Hypertriglyceridemia, Skin rash, Hepatomegaly, Splenomegaly	OMIM:619175
Peeling Skin Syndrome 1	Nail dystrophy, Brittle hair, Increased circulating IgE level, Onycholysis, Erythroderma, Eosinop...	OMIM:270300
Autosomal Agammaglobulinemia	Chronic otitis media, Sepsis, Recurrent respiratory infections, Recurrent infections, Arthritis, ...	ORPHA:33110
Combined Immunodeficiency With Facio-Oculo-Skeletal Anomalies	Palpebral edema, Decreased specific antibody response to vaccination, Low posterior hairline, Rec...	ORPHA:221139
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease	Hypertriglyceridemia, Increased circulating ferritin concentration, Anemia, Acute myeloid leukemi...	ORPHA:158057
Immunodeficiency 21	Aplastic anemia, Anemia, Neutropenia, B lymphocytopenia, Recurrent viral infections, Recurrent my...	OMIM:614172
C1Q Deficiency 2	Sepsis, Recurrent otitis media, Anemia, Pneumocystis carinii pneumonia, Recurrent lower respirato...	OMIM:620321
Hypotrichosis 4	Uncombable hair, Sparse scalp hair, Sparse eyelashes, Sparse body hair, Sparse eyebrow, Alopecia	OMIM:146550
Thrombocytopenia 1	Decreased mean platelet volume, Increased circulating IgE level, Increased circulating IgA level,...	OMIM:313900
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency	Hepatomegaly, Diffuse pancreatic islet hyperplasia, Tachycardia, Hypertrophic cardiomyopathy, Syn...	ORPHA:276580
Combined Immunodeficiency Due To Zap70 Deficiency	Lymphocytosis, Skin rash, Recurrent bacterial skin infections, Decreased lymphocyte proliferation...	ORPHA:911
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome	Pallor	ORPHA:2786
X-Linked Agammaglobulinemia	Chronic otitis media, Sepsis, Anemia, Hypocalcemia, Arthritis, Skin rash, Alopecia, Meningitis, A...	ORPHA:47
Primary Myelofibrosis	Abnormal bleeding, Purpura, Hepatomegaly, Petechiae, Portal hypertension, Increased circulating l...	ORPHA:824
Familial Cold Autoinflammatory Syndrome 2	Recurrent aphthous stomatitis, Lymphadenopathy, Elevated circulating C-reactive protein concentra...	OMIM:611762
Hemoglobin D Disease	Pallor, Splenomegaly	ORPHA:90039
Immunodeficiency 35	Increased circulating IgE level, Recurrent viral infections, Recurrent mycobacterial infections, ...	OMIM:611521
Pigmentary Disorder, Reticulate, With Systemic Manifestations, X-Linked	Broad eyebrow, Hyperkeratosis, Hypohidrosis, Recurrent pneumonia, Bronchiectasis, Frontal upsweep...	OMIM:301220
Hypotrichosis, Congenital, With Juvenile Macular Dystrophy	Abnormality of the nail, Sparse scalp hair, Reduced terminal:vellus ratio, Sparse hair, Pili torti	OMIM:601553
Gamma-A-Globulin, Defect In Assembly Of	Recurrent respiratory infections, Decreased circulating IgA level	OMIM:137050
Autoinflammation, Antibody Deficiency, And Immune Dysregulation	Decreased proportion of class-switched memory B cells, Interstitial pneumonitis, Bronchiolitis, E...	OMIM:614878
Insulin Autoimmune Syndrome	Arthralgia/arthritis, Acanthosis nigricans, Increased circulating antibody level	ORPHA:411593
Leber Congenital Amaurosis 14	Pallor	OMIM:613341
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome	Tachycardia, Pallor, Pancreatic islet-cell hyperplasia	ORPHA:276608
Leukomelanoderma, Infantilism, Mental Retardation, Hypodontia, Hypotrichosis	Sparse hair	OMIM:246500
Drug-Induced Autoimmune Hemolytic Anemia	Tachycardia, Congestive heart failure, Pallor, Splenomegaly	ORPHA:90037
Omenn Syndrome	Hepatomegaly, Anemia, Lymphadenopathy, B lymphocytopenia, Hypoproteinemia, Erythroderma, Hypoplas...	OMIM:603554
Ulerythema Ophryogenesis	Contact dermatitis, Sparse lateral eyebrow, Acne, Hyperkeratotic papule, Follicular hyperkeratosis	ORPHA:3406
Erythrokeratodermia Variabilis	Abnormal hair morphology, Abnormality of the nail, Hyperkeratosis, Skin rash, Patchy palmoplantar...	ORPHA:317
Congenital Heart Block	Congestive heart failure, Bradycardia, Prolonged QTc interval, Gallop rhythm, Abnormal heart valv...	ORPHA:60041
T-Cell Immunodeficiency With Thymic Aplasia	Chronic otitis media, Recurrent Staphylococcus aureus infections, T lymphocytopenia, Sinusitis, O...	ORPHA:83471
Immunodeficiency 67	Liver abscess, Abnormal natural killer cell count, Increased circulating IgE level, Complete or n...	OMIM:607676
Cernunnos-Xlf Deficiency	Anemia, B lymphocytopenia, Decreased circulating antibody level, T lymphocytopenia, Recurrent vir...	ORPHA:169079
Autoinflammation With Infantile Enterocolitis	Increased circulating ferritin concentration, Anemia, Elevated circulating C-reactive protein con...	OMIM:616050
Diaph1-Related Sensorineural Hearing Loss-Thrombocytopenia Syndrome	Increased mean platelet volume, Thrombocytopenia, Iron deficiency anemia, Neutropenia	ORPHA:494444
Cinca Syndrome	Anemia, Lymphadenopathy, Elevated circulating C-reactive protein concentration, Arthritis, Skin r...	OMIM:607115
Psoriasis 14, Pustular	Parakeratosis, Nail dystrophy, Cholangitis, Elevated circulating C-reactive protein concentration...	OMIM:614204
Ichthyosis, Congenital, Autosomal Recessive 11	Curly eyelashes, Brittle hair, Abnormality of the nail, Hyperkeratosis, Curly hair, Hypohidrosis,...	OMIM:602400
Ectodermal Dysplasia 6, Hair/Nail Type	Thin toenail, Dystrophic toenail, Sparse hair, Alopecia	OMIM:614928
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2	Anemia, Acute myeloid leukemia, Pancytopenia, Increased mean corpuscular volume, Thrombocytopenia...	OMIM:619041
Papa Syndrome	Increased circulating antibody level, Lymphadenopathy, Myositis, Arthritis, Crohn's disease, Pust...	ORPHA:69126
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis	Hepatomegaly, Elevated circulating C-reactive protein concentration, Stomatitis, Skin rash, Hyper...	OMIM:612852
Dermatoleukodystrophy	Thickened skin, Hyperkeratosis	ORPHA:1659
Ichthyosis Hystrix, Lambert Type	Orthokeratotic hyperkeratosis, Hyperkeratosis	OMIM:146600
Hereditary Palmoplantar Keratoderma, Gamborg-Nielsen Type	Hyperkeratosis with erythema, Diffuse palmoplantar hyperkeratosis	ORPHA:86923
Palmoplantar Keratoderma, Punctate Type Iii	Hyperkeratosis, Acrokeratosis	OMIM:101850
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema	Jaundice, Hepatomegaly, Cholelithiasis, Splenomegaly, Pallor, Hepatitis	OMIM:194380
Dowling-Degos Disease 2	Hyperkeratotic papule, Follicular hyperkeratosis	OMIM:615327
Beta-Thalassemia Intermedia	Decreased liver function, Cirrhosis, Jaundice, Hepatomegaly, Skin ulcer, Cholelithiasis, Hepatoce...	ORPHA:231222
Atrichia With Papular Lesions	Sparse hair	OMIM:209500
Panniculitis-Induced Localized Lipodystrophy	Inflammatory abnormality of the skin, Abnormal immunoglobulin level	ORPHA:90159
Hemophagocytic Syndrome Associated With An Infection	Hypertriglyceridemia, Splenomegaly, Chronic active Epstein-Barr virus infection, Hyperproteinemia...	ORPHA:158048
Systemic Mastocytosis With Associated Hematologic Neoplasm	Normocytic anemia, Acute myeloid leukemia, Normochromic anemia, Chronic lymphatic leukemia, Chron...	ORPHA:98849
Palmoplantar Keratoderma-Deafness Syndrome	Palmoplantar keratoderma, Hyperkeratosis	ORPHA:2202
Prolidase Deficiency	Hepatomegaly, Hyperkeratosis, Hirsutism, Recurrent cystitis, White forelock, Thin skin, Abnormal ...	ORPHA:742
Trichothiodystrophy 1, Photosensitive	Trichorrhexis nodosa, Nail dystrophy, Brittle hair, Recurrent infections, Small nail, Hyperkerato...	OMIM:601675
Pyogenic Sterile Arthritis, Pyoderma Gangrenosum, And Acne	Elevated circulating C-reactive protein concentration, Sterile abscess, Pancytopenia, Arthritis, ...	OMIM:604416
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome	Chronic oral candidiasis, Recurrent aphthous stomatitis, B lymphocytopenia, Recurrent pneumonia, ...	OMIM:150550
Congenital Dyserythropoietic Anemia Type Iii	Elevated circulating hepatic transaminase concentration, Melena, Post-partum hemorrhage, Gingival...	ORPHA:98870
Perifolliculitis Capitis Abscedens Et Suffodiens, Familial	Alopecia, Alopecia of scalp, Perifolliculitis	OMIM:260910
Epidermolysis Bullosa Simplex 6, Generalized Intermediate, With Or Without Cardiomyopathy	Alopecia of scalp, Diffuse palmoplantar hyperkeratosis, Onychogryposis of toenails, Dystrophic to...	OMIM:617294
Mucopolysaccharidosis-Plus Syndrome	Enlarged kidney, Recurrent bronchopulmonary infections, Low posterior hairline, Thickened skin, B...	OMIM:617303
Griscelli Syndrome	Premature graying of hair, Abnormal circulating lipid concentration, Jaundice, Hepatomegaly, Lymp...	ORPHA:381
Immunodeficiency 82 With Systemic Inflammation	Recurrent abscess formation, Crohn's disease, Skin rash, T lymphocytopenia, Splenomegaly, Decreas...	OMIM:619381
Immunodeficiency 23	Recurrent Staphylococcus aureus infections, Persistent EBV viremia, Increased circulating IgG lev...	OMIM:615816
Aicardi-Goutieres Syndrome 5	Increased circulating interferon-gamma concentration, Thrombocytopenia, Chilblains	OMIM:612952
Osteopenia And Sparse Hair	Sparse hair	OMIM:259690
Acquired Ichthyosis	Ichthyosis, Hyperkeratosis, Palmoplantar keratoderma, Recurrent skin infections, Pruritus	ORPHA:454
Secondary Intestinal Lymphangiectasia	Anasarca, Cirrhosis, Intestinal lymphedema, Recurrent infections, Decreased circulating antibody ...	ORPHA:90363
Lamellar Ichthyosis	Chronic otitis media, Sepsis, Ichthyosis, Abnormality of the nail, Hyperkeratosis, Dehydration, S...	ORPHA:313
Autoinflammatory Disease, Systemic, With Vasculitis	Cholestasis, Increased T cell count, Splenomegaly, Cardiomegaly, Hydrops fetalis, Increased circu...	OMIM:620376
Optic Atrophy 1	Pallor	OMIM:165500
Epidermolysis Bullosa Simplex 1C, Localized	Hyperkeratosis	OMIM:131800
Thiamine-Responsive Megaloblastic Anemia Syndrome	Congestive heart failure, Pallor, Paroxysmal atrial tachycardia, Cardiac arrest	ORPHA:49827
Alopecia Antibody Deficiency	Abnormal eyelash morphology, Decreased circulating antibody level, Sparse body hair, Sparse hair,...	ORPHA:1006
Ectodermal Dysplasia 15, Hypohidrotic/Hair Type	Slow-growing hair, Sparse scalp hair, Eczematoid dermatitis, Hypohidrosis, Blepharitis, Sparse ey...	OMIM:618535
Immunodeficiency 12	Cheilitis, Absent isohemagglutinin level, Recurrent aphthous stomatitis, Recurrent lower respirat...	OMIM:615468
Hyperinsulinism Due To Hnf1A Deficiency	Hepatomegaly, Tachycardia, Syncope, Palpitations, Pallor	ORPHA:324575
Mogs-Cdg	Pulmonary edema, Polyhydramnios, Hepatomegaly, Cardiomegaly, Decreased circulating antibody level...	ORPHA:79330
Roifman Syndrome	Recurrent otitis media, Lymphadenopathy, Decreased circulating antibody level, Eczematoid dermati...	ORPHA:353298
Palmoplantar Keratoderma And Congenital Alopecia 2	Nail dysplasia, Nail dystrophy, Hyperkeratosis, Sclerodactyly, Palmoplantar hyperkeratosis, Alope...	OMIM:212360
Immune Dysregulation, Autoimmunity, And Autoinflammation	Increased circulating interleukin 8 concentration, Decreased circulating complement C3 concentrat...	OMIM:620514
Bloom Syndrome	Cheilitis, Skin rash, Severe varicella zoster infection, Acute myeloid leukemia, Recurrent tonsil...	ORPHA:125
Wiskott-Aldrich Syndrome 2	Defective T cell proliferation, Decreased proportion of CD8-positive T cells, Recurrent infection...	OMIM:614493
Boutonneuse Fever	Lymphadenopathy, Increased circulating IgG level, Skin rash, Increased circulating IgM level, Leu...	ORPHA:83313
Immunodeficiency 98 With Autoinflammation, X-Linked	Autoimmune hemolytic anemia, Chronic oral candidiasis, Recurrent otitis media, Hepatomegaly, Hemo...	OMIM:301078
Cold Agglutinin Disease	Pallor, Hepatomegaly, Splenomegaly	ORPHA:56425
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Intermediate Form	Nail dystrophy, Hyperkeratosis, Plantar hyperkeratosis, Palmar hyperkeratosis, Pruritus	ORPHA:79399
Igg4-Related Dacryoadenitis And Sialadenitis	Palpebral edema, Lymphadenopathy, Myositis, Thyroiditis, Increased circulating IgA level, Xerosto...	ORPHA:79078
Zika Virus Disease	Myelitis, Arthritis, Skin rash, Increased circulating IgM level, Thrombocytopenia, Pruritus, Infe...	ORPHA:448237
Acne Inversa, Familial, 2, With Or Without Dowling-Degos Disease	Acne inversa, Perifolliculitis, Chronic furunculosis, Recurrent cutaneous abscess formation, Foll...	OMIM:613736
Poikiloderma, Hereditary Fibrosing, With Tendon Contractures, Myopathy, And Pulmonary Fibrosis	Nail dysplasia, Hepatomegaly, Elevated circulating creatine kinase concentration, Hypohidrosis, E...	OMIM:615704
Neonatal Lupus Erythematosus	Aplastic anemia, Parakeratosis, Hepatomegaly, Anemia, Maculopapular exanthema, Pancytopenia, Mala...	ORPHA:398124
Congenital Panfollicular Nevus	Hyperkeratosis	ORPHA:139414
Deafness-Lymphedema-Leukemia Syndrome	Hepatomegaly, Bruising susceptibility, Intracranial hemorrhage, Splenomegaly, Prolonged bleeding ...	ORPHA:3226
Angioma Serpiginosum, X-Linked	Hyperkeratosis, Nail dystrophy, Fine hair, Sparse hair	OMIM:300652
Mal De Meleda	Ichthyosis, Superficial dermal perivascular inflammatory infiltrate, Nonepidermolytic palmoplanta...	ORPHA:87503
Retinal Dystrophy, Iris Coloboma, And Comedogenic Acne Syndrome	Comedonal acne, Decreased retinol-binding protein level, Follicular hyperkeratosis	OMIM:615147
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Recessive	Cirrhosis, Ichthyosis, Palmoplantar keratoderma, Decreased circulating ceruloplasmin concentratio...	OMIM:242150
Combined Cellular And Humoral Immune Defects With Granulomas	Decreased circulating IgG level, Recurrent respiratory infections, B lymphocytopenia, T lymphocyt...	OMIM:233650
Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency	Increased circulating lactate dehydrogenase concentration, Pallor, Jaundice, Hepatomegaly	OMIM:613839
Ataxia-Telangiectasia	Recurrent lower respiratory tract infections, Abnormal hair morphology, Recurrent bronchitis, Hyp...	OMIM:208900
Reticulate Acropigmentation Of Kitamura	Hyperkeratosis	OMIM:615537
Spontaneous Periodic Hypothermia	Pallor, Arrhythmia	ORPHA:29822
Hyperkeratosis-Hyperpigmentation Syndrome	Hyperkeratosis	ORPHA:1336
Autosomal Dominant Hypohidrotic Ectodermal Dysplasia	Eczematoid dermatitis, Hypohidrosis, Thin skin, Sparse body hair, Abnormal fingernail morphology,...	ORPHA:1810
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1	T lymphocytopenia, Sinusitis, Bronchiectasis, Increased circulating IgM level, Pneumonia, Decreas...	OMIM:242860
Ichthyosis, Congenital, Autosomal Recessive 1	Nail dysplasia, Parakeratosis, Ichthyosis, Nail dystrophy, Congenital ichthyosiform erythroderma,...	OMIM:242300
Deafness, Neural, With Atypical Atopic Dermatitis	Increased circulating IgE level, Late onset atopic dermatitis	OMIM:221700
Epidermolysis Bullosa Simplex 4, Localized Or Generalized Intermediate, Autosomal Recessive	Hyperkeratosis	OMIM:615028
Immunodeficiency 110 With Lymphoproliferation	Autoimmune hemolytic anemia, Sepsis, Recurrent aphthous stomatitis, Recurrent lower respiratory t...	OMIM:614868
Erythrokeratoderma ''En Cocardes''	Hyperkeratosis	ORPHA:315
Bathing Suit Ichthyosis	Parakeratosis, Ichthyosis, Nail dystrophy, Thickened skin, Hypohidrosis, Congenital nonbullous ic...	ORPHA:100976
Ichthyosis, Congenital, Autosomal Recessive 10	Palmoplantar keratoderma, Generalized ichthyosis, Hyperkeratosis, Orthokeratotic hyperkeratosis, ...	OMIM:615024
Epidermolytic Hyperkeratosis 2A, Autosomal Dominant	Generalized hyperkeratosis, Palmoplantar keratoderma, Hyperkeratosis, Cobblestone-like hyperkerat...	OMIM:620150
Ige Responsiveness, Atopic	Increased circulating IgE level, Allergic rhinitis, Eczematoid dermatitis	OMIM:147050
Primary Lateral Sclerosis, Juvenile	Pallor	OMIM:606353
Psoriasis-Related Juvenile Idiopathic Arthritis	Iritis, Malar rash, Skin rash, Oligoarthritis, Onycholysis, Sacroiliac arthritis, Nail pits, Enth...	ORPHA:85436
Hyperkeratosis Lenticularis Perstans	Hyperkeratosis lenticularis perstans	OMIM:144150
Angioma Serpiginosum, Autosomal Dominant	Hyperkeratosis	OMIM:106050
Papillomatosis, Confluent And Reticulated	Hyperkeratosis	OMIM:167900
Schopf-Schulz-Passarge Syndrome	Narrow nail, Nail dystrophy, Thin nail, Ridged nail, Small nail, Hyperkeratosis, Poroma, Apocrine...	OMIM:224750
Anemia, Hypochromic Microcytic, With Iron Overload 2	Elevated hepatic iron concentration, Pallor, Hepatomegaly, Splenomegaly	OMIM:615234
Neonatal Ichthyosis-Sclerosing Cholangitis Syndrome	Ichthyosis, Acanthosis nigricans, Jaundice, Hepatomegaly, Scarring alopecia of scalp, Cholestasis...	ORPHA:59303
Immunodeficiency 58	Chronic otitis media, Seborrheic dermatitis, Decreased specific antibody response to vaccination,...	OMIM:618131
Familial Focal Epilepsy With Variable Foci	Pallor	ORPHA:98820
Autoimmune Hemolytic Anemia, Warm Type	Congestive heart failure, Jaundice, Splenomegaly, Tachycardia, Pallor	ORPHA:90033
Mevalonic Aciduria	Morbilliform rash, Fluctuating splenomegaly, Anemia, Lymphadenopathy, Elevated circulating C-reac...	OMIM:610377
Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis	Parakeratosis, Ichthyosis, Jaundice, Hepatomegaly, Sclerosing cholangitis, Thick hair, Intrahepat...	OMIM:607626
Isolated Agammaglobulinemia	Pneumonia, Sepsis, Anemia, Inflammatory abnormality of the eye, Arthritis, Skin rash, Abnormal ly...	ORPHA:229717
Ichthyosis With Erythrokeratoderma	Parakeratosis, Palmoplantar keratoderma, Leukonychia, Diffuse palmoplantar hyperkeratosis, Congen...	OMIM:620507
Omenn Syndrome	Sepsis, Hepatomegaly, Anemia, Lymphadenopathy, Thyroiditis, Abnormal lymphocyte morphology, Eryth...	ORPHA:39041
Non-Functioning Paraganglioma	Congestive heart failure, Hypertension associated with pheochromocytoma, Sinus tachycardia, Cereb...	ORPHA:94080
American Trypanosomiasis	Myocarditis, Congestive heart failure, Hepatomegaly, Cardiomyopathy, Splenomegaly, Arrhythmia, Pa...	ORPHA:3386
Ectodermal Dysplasia-Syndactyly Syndrome 2	Cardiomegaly, Congenital bullous ichthyosiform erythroderma, Hyperhidrosis, Sparse hair, Palmopla...	OMIM:613576
Agammaglobulinemia 9, Autosomal Recessive	Seborrheic dermatitis, Eczematoid dermatitis, Thrombocytopenia, Agammaglobulinemia, Recurrent bac...	OMIM:619693
Bazex Syndrome	Parakeratosis, Nail dystrophy, Acanthosis nigricans, Anemia, Yellow nails, Hyperkeratosis, Palmop...	ORPHA:166113
Olmsted Syndrome 2	Cheilitis, Parakeratosis, Perioral hyperkeratosis, Hyperkeratosis, Woolly hair, Sparse hair, Palm...	OMIM:619208
Epidermolysis Bullosa Dystrophica, Pretibial	Hyperkeratosis, Nail dystrophy, Pruritus	OMIM:131850
Growth Hormone Insensitivity Syndrome With Immune Dysregulation 2, Autosomal Dominant	Recurrent infections, Thyroiditis, Increased circulating IgE level, Eczematoid dermatitis	OMIM:618985
Hemophagocytic Lymphohistiocytosis, Familial, 2	Hypertriglyceridemia, Skin rash, Hypoproteinemia, Leukopenia, Splenomegaly, Edema, Jaundice, Panc...	OMIM:603553
Ectodermal Dysplasia And Immunodeficiency 2	Hepatomegaly, Defective production of NFKB1-dependent cytokines, Sparse scalp hair, Hypohidrosis,...	OMIM:612132
Epidermolytic Palmoplantar Keratoderma	Diffuse palmoplantar hyperkeratosis, Abnormal fingernail morphology, Hyperhidrosis, Palmoplantar ...	ORPHA:2199
Idiopathic Chronic Eosinophilic Pneumonia	Elevated circulating C-reactive protein concentration, Increased circulating IgE level, Pleural e...	ORPHA:2902
Pili Torti-Onychodysplasia Syndrome	Nail dystrophy, Trichodysplasia, Brittle hair, Generalized keratosis follicularis, Absent eyelash...	ORPHA:2890
Autosomal Dominant Hyper-Ige Syndrome Due To Stat3 Deficiency	Chronic otitis media, Dystrophic fingernails, Abnormal hair morphology, Recurrent infections, Inc...	ORPHA:2314
Thrombocytopenia 5	Anemia, Increased mean corpuscular volume, B Acute Lymphoblastic Leukemia, Thrombocytopenia, Neut...	OMIM:616216
Keratoderma Hereditarium Mutilans With Ichthyosis	Parakeratosis, Nail dystrophy, Onychogryposis, Generalized ichthyosis, Hyperkeratosis, Congenital...	ORPHA:79395
Idiopathic Pulmonary Hemosiderosis	Hepatomegaly, Hepatosplenomegaly, Heart murmur, Diffuse alveolar hemorrhage, Pallor	ORPHA:99931
Senior-Loken Syndrome 8	Hepatic cysts, Intrahepatic bile duct dilatation, Pancreatic cysts, Pallor	OMIM:616307
Lipodystrophy, Congenital Generalized, Type 4	Hypertriglyceridemia, Hepatomegaly, Acanthosis nigricans, Recurrent infections, Hirsutism, Elevat...	OMIM:613327
Cholestasis-Lymphedema Syndrome	Cirrhosis, Jaundice, Hepatomegaly, Lymphedema, Hyperlipidemia, Erysipelas, Splenomegaly, Conjugat...	OMIM:214900
Amegakaryocytic Thrombocytopenia, Congenital, 2	Aplastic anemia, Anemia, Pancytopenia, Thrombocytopenia, Neutropenia	OMIM:620481
Alg12-Cdg	Sepsis, Polyhydramnios, Recurrent pharyngitis, Partial absence of specific antibody response to H...	ORPHA:79324
Cyclic Vomiting Syndrome	Pallor, Cardiomyopathy	OMIM:500007
Autoimmune Disease, Multisystem, Infantile-Onset, 1	Autoimmune hemolytic anemia, Recurrent lower respiratory tract infections, Neutropenia in presenc...	OMIM:615952
Cole Disease	Abnormal blood phosphate concentration, Abnormal hair morphology, Abnormality of the nail, Hyperk...	OMIM:615522
Rheumatoid Factor-Positive Polyarticular Juvenile Idiopathic Arthritis	Symmetric polyarthritis, Elevated circulating C-reactive protein concentration, Arthritis, Synovi...	ORPHA:85435
Moynahan Syndrome	Hyperkeratosis, Sparse hair, Alopecia	ORPHA:2574
Intellectual Developmental Disorder, Autosomal Recessive 5	Elevated circulating creatine kinase concentration, Synophrys, Eczematoid dermatitis, Thick eyebr...	OMIM:611091
Quinquaud Folliculitis Decalvans	Abnormal hair morphology, Scarring alopecia of scalp, Patchy alopecia, Pustule, Recurrent skin in...	ORPHA:346
Olmsted Syndrome 1	Nail dysplasia, Parakeratosis, Nail dystrophy, Hyperparakeratosis, Periorificial hyperkeratosis, ...	OMIM:614594
Autoimmune Hepatitis	Cirrhosis, Jaundice, Increased circulating antibody level, Sclerosing cholangitis, Increased circ...	ORPHA:2137
Granulomatous Disease, Chronic, Autosomal Recessive, 5	Perianal abscess, Lymphadenopathy, Recurrent tonsillitis, Recurrent infections, Crohn's disease, ...	OMIM:618935
Congenital Hyperinsulinism Due To Hnf4A Deficiency	Hepatomegaly, Elevated circulating hepatic transaminase concentration, Increased hepatic glycogen...	ORPHA:263455
Igg4-Related Aortitis	Increased circulating antibody level, Elevated circulating C-reactive protein concentration, Incr...	ORPHA:449400
Kimura Disease	Follicular hyperplasia, Eosinophilia, Increased circulating IgE level, Lymphadenopathy	ORPHA:482
Trichomegaly-Retina Pigmentary Degeneration-Dwarfism Syndrome	Long eyelashes, Neonatal hyperbilirubinemia, Sparse hair, Alopecia	ORPHA:3363
Proteus Syndrome	Hyperkeratosis, Lymphangioma, Splenomegaly	OMIM:176920
Bazex-Dupre-Christol Syndrome	Trichorrhexis nodosa, Coarse hair, Trichoepithelioma, Atopic dermatitis, Eczematoid dermatitis, H...	OMIM:301845
Lipoid Proteinosis Of Urbach And Wiethe	Thickened skin, Hyperkeratosis, Patchy alopecia	OMIM:247100
Thumb Deformity-Alopecia-Pigmentation Anomaly Syndrome	Onychogryposis of fingernail, Fingernail dysplasia, Ridged fingernail, Sparse hair, Palmoplantar ...	ORPHA:2251
Immunodeficiency 59 And Hypoglycemia	Sepsis, High anterior hairline, Hepatomegaly, Recurrent aphthous stomatitis, Arteritis, Decreased...	OMIM:233600
Immunodeficiency 47	Cholestasis, Prolonged neonatal jaundice, Leukopenia, Splenomegaly, Decreased circulating total I...	OMIM:300972
Gaucher Disease Type 1	Decreased HDL cholesterol concentration, Cirrhosis, Anemia, Increased circulating antibody level,...	ORPHA:77259
Flynn-Aird Syndrome	Hyperkeratosis, Alopecia of scalp, Alopecia	OMIM:136300
Pneumocystosis	Chronic oral candidiasis, Abnormal neutrophil count, Increased circulating antibody level, Acute ...	ORPHA:723
Olmsted Syndrome, X-Linked	Parakeratosis, Palmoplantar hyperkeratosis, Hyperkeratosis, Posterior blepharitis, Blepharitis, A...	OMIM:300918
Systemic-Onset Juvenile Idiopathic Arthritis	Hepatomegaly, Lymphadenopathy, Elevated circulating C-reactive protein concentration, Arthritis, ...	ORPHA:85414
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative	Recurrent otitis media, Impaired lymphocyte transformation with phytohemagglutinin, Recurrent low...	OMIM:600802
Poems Syndrome	Leukonychia, Hepatomegaly, Increased circulating antibody level, Lymphadenopathy, Pleural effusio...	ORPHA:2905
Q Fever	Increased circulating antibody level, Granuloma, Pericarditis, Splenomegaly, Cholecystitis, Myoca...	ORPHA:781
Trichothiodystrophy 5, Nonphotosensitive	Brittle hair, Recurrent infections, Slow-growing hair, Tiger tail banding, Sparse eyebrow, Sparse...	OMIM:300953
Acquired Idiopathic Sideroblastic Anemia	Congestive heart failure, Abnormal bleeding, Hepatomegaly, Splenomegaly, Pallor	ORPHA:75564
Papillon-Lefèvre Syndrome	Nail dystrophy, Liver abscess, Severe periodontitis, Palmoplantar keratoderma, Periodontitis, Abn...	ORPHA:678
Kid Syndrome	Nail dystrophy, Recurrent bacterial skin infections, Sparse hair, Recurrent cutaneous abscess for...	ORPHA:477
Monilethrix	Brittle hair, Slow-growing hair, Abnormality of the nail, Abnormal eyelash morphology, Patchy alo...	ORPHA:573
Hemosiderosis, Pulmonary, With Deficiency Of Gamma-A Globulin	Decreased circulating IgA level	OMIM:235500
Congenital Enterovirus Infection	Myocarditis, Sepsis, Hydrops fetalis, Anemia, Polyhydramnios, Abnormal macrophage morphology, Ski...	ORPHA:292
Aspergillosis	Invasive pulmonary aspergillosis, Increased circulating IgE level, Meningitis, Pleural effusion, ...	ORPHA:1163
Erythema Elevatum Diutinum	Skin rash, Increased circulating antibody level	ORPHA:90000
Hypotrichosis 6	Brittle hair, Sparse eyelashes, Sparse eyebrow, Sparse hair, Pili torti, Pruritus, Follicular hyp...	OMIM:607903
Immunodeficiency 81	Autoimmune hemolytic anemia, Decreased proportion of class-switched memory B cells, Recurrent inf...	OMIM:619374
Keratoderma Hereditarium Mutilans	Ichthyosis, Abnormality of the nail, Hyperkeratosis, Abnormal toenail morphology, Honeycomb palmo...	ORPHA:494
Trichothiodystrophy 9, Nonphotosensitive	Nail dystrophy, Ichthyosis, Tiger tail banding, Sparse eyebrow, Sparse hair	OMIM:619692
Adult-Onset Still Disease	Myocarditis, Abnormal circulating lipid concentration, Increased circulating ferritin concentrati...	ORPHA:829
T-Cell Immunodeficiency With Thymic Aplasia	Reduced delayed hypersensitivity, Pyoderma, Aplasia of the thymus, Recurrent bronchopulmonary inf...	OMIM:242700
Immunodeficiency 17	Autoimmune hemolytic anemia, Chronic oral candidiasis, Recurrent otitis media, Decreased proporti...	OMIM:615607
Autoimmune Disease, Multisystem, With Facial Dysmorphism	Hepatomegaly, Pancytopenia, Portal hypertension, Hashimoto thyroiditis, Splenomegaly, Recurrent r...	OMIM:613385
Oliver-Mcfarlane Syndrome	Alopecia, Long eyebrows, Sparse hair, Long eyelashes	OMIM:275400
Purine Nucleoside Phosphorylase Deficiency	Sinusitis, Lymph node hypoplasia, Splenomegaly, Increased circulating guanosine concentration, Ly...	OMIM:613179
Congenital Disorder Of Glycosylation, Type Iq	Ichthyosis, Hyperkeratosis, Eczematoid dermatitis, Microcytic anemia, Hypertrichosis	OMIM:612379
Granulomatous Disease, Chronic, Autosomal Recessive, 1	Recurrent Klebsiella infections, Recurrent E. coli infections, Liver abscess, Recurrent Staphyloc...	OMIM:233700
Granulomatous Disease, Chronic, Autosomal Recessive, 2	Recurrent Klebsiella infections, Recurrent E. coli infections, Liver abscess, Recurrent Staphyloc...	OMIM:233710
Meige Disease	Edema of the dorsum of hands, Pedal edema, Predominantly lower limb lymphedema, Lymphedema, Pleur...	ORPHA:90186
Ichthyosis Prematurity Syndrome	Alopecia of scalp, Polyhydramnios, Generalized ichthyosis, Allergic rhinitis, Erythroderma, Pruri...	OMIM:608649
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome	Abnormal circulating interferon-gamma concentration, Autoimmune hemolytic anemia, Recurrent Asper...	ORPHA:391487
Diamond-Blackfan Anemia 4	Reticulocytopenia, Erythroid hypoplasia, Macrocytic anemia, Neutropenia	OMIM:612527
Intermediate Generalized Junctional Epidermolysis Bullosa	Nail dystrophy, Anemia, Scarring alopecia of scalp, Sparse body hair, Anonychia, Palmoplantar ker...	ORPHA:79402
Generalized Pustular Psoriasis	Cheilitis, Sepsis, Elevated circulating C-reactive protein concentration, Hypocalcemia, Arthritis...	ORPHA:247353
Good Syndrome	Anemia, Mediastinal lymphadenopathy, Abnormal leukocyte morphology, Recurrent urinary tract infec...	ORPHA:169105
Indolent Systemic Mastocytosis	Hepatomegaly, Increased proportion of CD25+ mast cells, Lymphadenopathy, Skin rash, Mastocytosis,...	ORPHA:98848
Pyoderma Gangrenosum	Increased circulating antibody level, Myositis, Rheumatoid arthritis, Inflammation of the large i...	ORPHA:48104
Autoinflammatory Disease, Systemic, X-Linked	Panniculitis, B lymphocytopenia, Complete or near-complete absence of specific antibody response ...	OMIM:301081
Granulomatous Disease, Chronic, Autosomal Recessive, 4	Recurrent Klebsiella infections, Recurrent E. coli infections, Liver abscess, Recurrent Staphyloc...	OMIM:233690
Car T Cell Therapy-Associated Cytokine Release Syndrome	Abnormal circulating cytokine concentration, Pulmonary edema, Increased circulating interleukin 6...	ORPHA:542323
Idiopathic Trachyonychia	Nail dystrophy, Ichthyosis, Thin nail, Ridged nail, Toenail dysplasia, Abnormality of the periung...	ORPHA:79153
Tafro Syndrome	Hepatomegaly, Increased circulating interleukin 6 concentration, Anemia, Lymphadenopathy, Elevate...	ORPHA:457077
Chédiak-Higashi Syndrome	Hypertriglyceridemia, Abnormal leukocyte morphology, Skin rash, Hypoproteinemia, Abnormal platele...	ORPHA:167
Ebola Hemorrhagic Fever	Sepsis, Increased circulating antibody level, Acute pancreatitis, Thrombocytopenia, Leukopenia, L...	ORPHA:319218
Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2	Perianal abscess, Increased circulating interleukin 6 concentration, Thrombocytosis, Iron deficie...	OMIM:301074
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency	Nail dystrophy, Hepatomegaly, Anemia, Lymphadenopathy, Hypoproteinemia, Cholestasis, Leukocytosis...	OMIM:615895
Hypohidrotic Ectodermal Dysplasia	Trichorrhexis nodosa, Inflammatory abnormality of the eye, Breast aplasia, Xerostomia, Hyperkerat...	ORPHA:238468
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia	Pallor, Hepatosplenomegaly	OMIM:611590
Chromomycosis	Lymphangiectasis, Hyperparakeratosis, Predominantly lower limb lymphedema, Hyperkeratosis, Lymphe...	ORPHA:182
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome	Skin rash, Bone marrow hypocellularity, Recurrent sinusitis, Leukopenia, Splenomegaly, Lymphopeni...	OMIM:615688
Glycogen Storage Disease Due To Lactate Dehydrogenase M-Subunit Deficiency	Parakeratosis, Superficial dermal perivascular inflammatory infiltrate, Predominantly dermal neut...	ORPHA:284426
Retinitis Pigmentosa 51	Pallor	OMIM:613464
Noonan Syndrome 8	Polyhydramnios, Webbed neck, Hyperkeratosis, Pleural effusion, Eczematoid dermatitis, Curly hair,...	OMIM:615355
Majeed Syndrome	Skin rash, Anemia of inadequate production, Hepatosplenomegaly, Inflammatory abnormality of the s...	OMIM:609628
Pityriasis Rubra Pilaris	Ichthyosis, Palmoplantar keratoderma, Abnormality of the nail, Eczematoid dermatitis, Thickened s...	ORPHA:2897
Lipoid Proteinosis	Alopecia of scalp, Hyperkeratosis, Thickened skin, Pustule, Acne, Recurrent respiratory infections	ORPHA:530
Neutrophilic Dermatosis, Acute Febrile	Panniculitis, Increased circulating interleukin 6 concentration, Anemia, Elevated circulating C-r...	OMIM:608068
Mitochondrial Complex I Deficiency, Nuclear Type 33	Aspiration pneumonia, Hyperammonemia, Sparse hair, Bronchiectasis, Oligohydramnios, Neutropenia	OMIM:618253
Trichohepatoenteric Syndrome 2	Trichorrhexis nodosa, Cirrhosis, Hepatomegaly, Brittle hair, Uncombable hair, Woolly hair, Chroni...	OMIM:614602
Even-Plus Syndrome	Highly arched eyebrow, Recurrent urinary tract infections, Atopic dermatitis, Synophrys, Sparse h...	OMIM:616854
Xq28 (MECP2) duplication	Recurrent respiratory infections, Decreased circulating IgA level	DECIPHER:45
Dyskeratosis Congenita, Digenic	Nail dystrophy, Anemia, Recurrent infections, Sparse eyelashes, Decreased circulating IgG level, ...	OMIM:620040
Bone Marrow Failure Syndrome 3	Aplastic anemia, Nail dystrophy, Hyperechogenic pancreas, Anemia, Acute myeloid leukemia, Pancyto...	OMIM:617052
Leukocyte Adhesion Deficiency, Type Iii	Sepsis, Hepatomegaly, Anemia, Abnormal lymph node morphology, Leukocytosis, Hepatosplenomegaly, S...	OMIM:612840
Autoinflammatory-Pancytopenia Syndrome	Cholestatic liver disease, Severe Epstein Barr virus infection, Hemophagocytosis, Intestinal infl...	OMIM:619858
Inflammatory Skin And Bowel Disease, Neonatal, 1	Increased circulating IgE level, Blepharitis, Pustule, Erythroderma, Paronychia, Onychogryposis	OMIM:614328
Dominant Beta-Thalassemia	Cirrhosis, Jaundice, Skin ulcer, Hepatocellular carcinoma, Hepatic fibrosis, Chronic hepatitis, P...	ORPHA:231226
Ectodermal Dysplasia, Trichoodontoonychial Type	Abnormal eyelash morphology, Sparse body hair, Abnormal toenail morphology, Sparse hair, Aplasia/...	ORPHA:1818
B4Galt1-Cdg	Hepatomegaly, Elevated circulating creatine kinase concentration, Decreased LDL cholesterol conce...	ORPHA:79332
Hereditary Spherocytosis	Jaundice, Hepatomegaly, Skin ulcer, Cholelithiasis, Restrictive cardiomyopathy, Splenomegaly, Pallor	ORPHA:822
Granulomatous Disease, Chronic, X-Linked	Recurrent Staphylococcus aureus infections, Discoid lupus rash, Recurrent bacterial skin infectio...	OMIM:306400
Kyphoscoliotic Ehlers-Danlos Syndrome Due To Fkbp22 Deficiency	Elevated circulating creatine kinase concentration, Follicular hyperkeratosis	ORPHA:300179
Erythrokeratodermia Variabilis Et Progressiva 6	Parakeratosis, Superficial dermal perivascular inflammatory infiltrate, Pruritus, Abnormal hair m...	OMIM:618531
Letterer-Siwe Disease	Pallor, Jaundice, Hepatosplenomegaly	OMIM:246400
Nicolaides-Baraitser Syndrome	Curly eyelashes, Highly arched eyebrow, Eczematoid dermatitis, Long eyelashes, Abnormal hair patt...	ORPHA:3051
Cyclic Neutropenia	Perianal abscess, Sepsis, Lymphadenopathy, Recurrent tonsillitis, Periodontitis, Lymphopenia, Too...	ORPHA:2686
Erythrokeratodermia Variabilis Et Progressiva 4	Hyperkeratosis, Congenital nonbullous ichthyosiform erythroderma, Palmoplantar hyperkeratosis	OMIM:617526
Celiac Disease, Susceptibility To, 1	Recurrent aphthous stomatitis, Iron deficiency anemia, Thrombocytosis, Macrocytic anemia, Thyroid...	OMIM:212750
Cardiomyopathy, Dilated, With Woolly Hair, Keratoderma, And Tooth Agenesis	Parakeratosis, Ichthyosis, Leukonychia, Nail dystrophy, Hyperkeratosis, Woolly hair, Fragile nail...	OMIM:615821
Cronkhite-Canada Syndrome	Hypoplastic toenails, Dystrophic fingernails, Hepatomegaly, Anemia, Lymphedema, Dystrophic toenai...	ORPHA:2930
Majeed Syndrome	Hepatomegaly, Hypochromic microcytic anemia, Leukocytosis, Synovitis, Pustule, Osteomyelitis, Spl...	ORPHA:77297
Trichohepatoenteric Syndrome 1	Cholestasis, Splenomegaly, Sparse hair, Fine hair, Jaundice, Brittle hair, Decreased circulating ...	OMIM:222470
Aregenerative Anemia	Erythroid hypoplasia, Lymphadenopathy, Pancytopenia, Abnormal proportion of CD8-positive T cells,...	ORPHA:101096
Sjögren-Larsson Syndrome	Hyperkeratosis, Ichthyosis, Inflammatory abnormality of the eye	ORPHA:816
Bacterial Toxic-Shock Syndrome	Skin rash, Severe varicella zoster infection, Sinusitis, Edema, Elevated circulating creatinine c...	ORPHA:36234
Choroidal Atrophy-Alopecia Syndrome	Sparse or absent eyelashes, Abnormal fingernail morphology, Abnormal toenail morphology, Bifid na...	ORPHA:1433
Familial Cold Autoinflammatory Syndrome 1	Elevated circulating C-reactive protein concentration, Arthritis, Skin rash, Leukocytosis, Conjun...	OMIM:120100
Hypocomplementemic Urticarial Vasculitis	Hepatomegaly, Lymphadenopathy, Inflammatory abnormality of the eye, Arthritis, Skin rash, Pleural...	ORPHA:36412
Syndromic X-Linked Intellectual Disability 7	Sparse body hair	ORPHA:85274
Cystic Echinococcosis	Cholestatic liver disease, Jaundice, Abnormality of the pancreas, Increased circulating antibody ...	ORPHA:400
Palmoplantar Keratoderma And Congenital Alopecia 1	Nail dysplasia, Leukonychia, Brittle hair, Sparse eyebrow, Sparse hair, Palmoplantar keratoderma,...	OMIM:104100
Ectodermal Dysplasia 12, Hypohidrotic/Hair/Tooth/Nail Type	Trichorrhexis nodosa, Nail dystrophy, Scarring alopecia of scalp, Eczematoid dermatitis, Hypohidr...	OMIM:617337
Brucellosis	Granuloma, Pericarditis, Hyperhidrosis, Leukopenia, Splenomegaly, Anterior uveitis, Myocarditis, ...	ORPHA:1304
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy	Hypertriglyceridemia, Severe cytomegalovirus infection, Increased circulating ferritin concentrat...	OMIM:619313
Monilethrix	Perifollicular hyperkeratosis, Nail dysplasia, Nail dystrophy, Brittle hair, Abnormality of hair ...	OMIM:158000
Bloom Syndrome	Malar rash, Decreased circulating IgG level, Elevated hemoglobin A1c, Hypertrichosis, Recurrent u...	OMIM:210900
Hypotrichosis And Recurrent Skin Vesicles	Leukonychia, Sparse scalp hair, Angular cheilitis, Sparse eyelashes, Sparse body hair, Sparse eye...	OMIM:613102
Idiopathic Non-Lupus Full-House Nephropathy	Decreased circulating complement C3 concentration, Arthritis, Skin rash, Reduced circulating comp...	ORPHA:567544
Chondroitin-6-Sulfaturia, Defective Cellular Immunity, Nephrotic Syndrome	Abnormal T cell morphology, Macronodular cirrhosis, Decreased circulating IgA level	OMIM:215250
Graft Versus Host Disease	Gastrointestinal inflammation, Jaundice, Hemophagocytosis, Lymphadenopathy, Inflammatory abnormal...	ORPHA:39812
Harlequin Ichthyosis	Ichthyosis, Congenital ichthyosiform erythroderma, Hyperkeratosis, Dehydration, Erythroderma, Rec...	ORPHA:457
Immunodeficiency 100 With Pulmonary Alveolar Proteinosis And Hypogammaglobulinemia	Intraalveolar phospholipid accumulation, Decreased circulating antibody level, Leukocytosis, Sple...	OMIM:618042
Transcobalamin Ii Deficiency	Hepatomegaly, Anemia, Erythroid hypoplasia, Macrocytic anemia, Pancytopenia, Hyperhomocystinemia,...	OMIM:275350
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency	Prolonged neonatal jaundice, Pallor, Jaundice, Splenomegaly	OMIM:300908
Incontinentia Pigmenti	Nail dysplasia, Breast hypoplasia, Nail dystrophy, Coarse hair, Ridged nail, Breast aplasia, Onyc...	OMIM:308300
Fructose-1,6-Bisphosphatase Deficiency	Hepatomegaly, Elevated circulating hepatic transaminase concentration, Abnormal circulating enzym...	ORPHA:348
Intrahepatic Cholestasis Of Pregnancy	Jaundice, Abnormality of the pancreas, Increased serum bile acid concentration, Pruritus on foot,...	ORPHA:69665
Keratosis Follicularis Spinulosa Decalvans, X-Linked	Dystrophic fingernails, Nail dystrophy, Scarring alopecia of scalp, Folliculitis, Sparse eyelashe...	OMIM:308800
C3 Glomerulopathy	Decreased circulating complement C3 concentration, Recurrent infections, Paraproteinemia, Membran...	ORPHA:329918
Focal Facial Dermal Dysplasia Type I	Absent eyelashes, Distichiasis, Sparse lateral eyebrow, Low anterior hairline, Sparse hair	ORPHA:79133
Ichthyosis, Congenital, Autosomal Recessive 14	Orthokeratotic hyperkeratosis, Hyperkeratosis, Congenital nonbullous ichthyosiform erythroderma, ...	OMIM:617571
Ichthyosis, Congenital, Autosomal Recessive 2	Palmoplantar keratoderma, Thin nail, Abnormal hair morphology, Small nail, Hyperkeratosis, Hypohi...	OMIM:242100
Autosomal Dominant Epidermolytic Ichthyosis	Ichthyosis, Palmoplantar keratoderma, Hyperkeratosis, Congenital bullous ichthyosiform erythroder...	ORPHA:312
Smith-Kingsmore Syndrome	Decreased circulating IgA level, Thrombocytopenia, Curly hair	OMIM:616638
Bleeding Disorder, Platelet-Type, 21	Impaired platelet aggregation, Eczematoid dermatitis, Impaired ADP-induced platelet aggregation, ...	OMIM:617443
Refractory Celiac Disease	Normocytic anemia, Iron deficiency anemia, Macrocytic anemia, Hypocalcemia, Hypoproteinemia, Incr...	ORPHA:398063
Waldenström Macroglobulinemia	Congestive heart failure, Gastrointestinal hemorrhage, Purpura, Hepatomegaly, Vasculitis, Gingiva...	ORPHA:33226
Pediatric Systemic Lupus Erythematosus	Decreased circulating complement C3 concentration, Lymphadenopathy, Malar rash, Arthritis, Skin r...	ORPHA:93552
Hidrotic Ectodermal Dysplasia, Halal Type	Nail dysplasia, Absent eyelashes, Sparse scalp hair, Absent eyebrow, Sparse body hair, Abnormal f...	ORPHA:1809
Ectodermal Dysplasia 10A, Hypohidrotic/Hair/Nail Type, Autosomal Dominant	Ridged nail, Slow-growing hair, Hypohidrosis, Sparse eyelashes, Sparse eyebrow, Sparse hair, Fine...	OMIM:129490
Rheumatic Fever	Myocarditis, Pericarditis, Epistaxis, Arrhythmia, Pallor, Erythema	ORPHA:3099
Intellectual Developmental Disorder, Fra12A Type	Erythroderma, Hyperkeratosis, Recurrent lower respiratory tract infections	OMIM:136630
Palmoplantar Keratoderma I, Striate, Focal, Or Diffuse	Nail dystrophy, Yellow nails, Orthokeratotic hyperkeratosis, Onycholysis, Hyperhidrosis, Streaks ...	OMIM:148700
Aicardi-Goutieres Syndrome 7	Increased circulating antibody level, Skin rash, Chilblains, Splenomegaly, Edema, Oligohydramnios...	OMIM:615846
Woolly Hair, Autosomal Recessive 3	Trichorrhexis nodosa, Sparse scalp hair, Curly hair, Sparse eyelashes, Sparse hair, Fine hair	OMIM:616760
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts	Elevated hepatic iron concentration, Pallor, Elevated circulating hepatic transaminase concentrat...	ORPHA:300298
Lichen Planopilaris	Hyperkeratosis, Onycholysis, Abnormal fingernail morphology, Hepatitis, Pruritus, Alopecia	ORPHA:525
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Dominant	Nail dysplasia, Trichiasis, Nail dystrophy, Ichthyosis, Absent pubic hair, Hyperkeratosis, Recurr...	OMIM:148210
Pseudoprogeria Syndrome	Absent eyelashes, Absent eyebrow, Thin skin, Sparse eyebrow, Sparse hair, Alopecia	ORPHA:2985
Variegate Porphyria, Childhood-Onset	Epidermal hyperkeratosis, Increased erythrocyte protoporphyrin concentration, Atopic dermatitis	OMIM:620483
Mixed-Type Autoimmune Hemolytic Anemia	Tachycardia, Pallor	ORPHA:90036
Sepsis In Premature Infants	Decreased liver function, Abnormal bleeding, Jaundice, Purpura, Hepatomegaly, Bradycardia, Petech...	ORPHA:90051
Infection-Related Hemolytic Uremic Syndrome	Edema, Myocarditis, Increased circulating interleukin 6 concentration, Hypocalcemia, Pleural empy...	ORPHA:544482
Beta-Thalassemia Major	Cirrhosis, Jaundice, Hepatomegaly, Skin ulcer, Hepatocellular carcinoma, Hepatic fibrosis, Pallor...	ORPHA:231214
Chronic Nonbacterial Osteomyelitis/Chronic Recurrent Multifocal Osteomyelitis	Anemia, Elevated circulating C-reactive protein concentration, Arthritis, Skin rash, Palmoplantar...	ORPHA:324964
Ichthyosis, Congenital, Autosomal Recessive 6	Parakeratosis, Palmoplantar keratoderma, Generalized ichthyosis, Hyperkeratosis, Hypohidrosis, Co...	OMIM:612281
Congenital Disorder Of Glycosylation, Type Im	Ichthyosis, Hyperkeratosis, Sparse eyelashes, Sparse eyebrow, Inflammatory abnormality of the ski...	OMIM:610768
Immunodeficiency 66	Defective T cell proliferation, Sepsis, Pustule, Recurrent skin infections, Meningitis	OMIM:618847
Coccidioidomycosis	Skin rash, Granuloma, Pericarditis, Unusual CNS infection, Erythema nodosum, Morbilliform rash, C...	ORPHA:228123
Chronic Mucocutaneous Candidiasis	Cheilitis, Recurrent infections, Recurrent urinary tract infections, Hyperkeratosis, Skin rash, A...	ORPHA:1334
Mixed Connective Tissue Disease	Myocarditis, Hepatomegaly, Keratoconjunctivitis sicca, Gastritis, Mediastinal lymphadenopathy, Ly...	ORPHA:809
Osteopetrosis, Autosomal Recessive 7	Hypocalcemic seizures, Anemia, Hepatomegaly, Decreased circulating IgG level, Recurrent pneumonia...	OMIM:612301
T-Cell Lymphoma, Subcutaneous Panniculitis-Like	Hypertriglyceridemia, Panniculitis, Anemia, Hemophagocytosis, Pancytopenia, Splenomegaly, Facial ...	OMIM:618398
Congenital Disorder Of Glycosylation, Type Ig	Polyhydramnios, Hypocalcemia, Decreased circulating IgG level, Recurrent pneumonia, Recurrent upp...	OMIM:607143
Subacute Inflammatory Demyelinating Polyneuropathy	Increased circulating IgG level, Leukocytosis, Severe infection	ORPHA:206594
Uremic Pruritus	Abnormal circulating cytokine concentration, Hypermagnesemia, Increased blood urea nitrogen, Infl...	ORPHA:94059
Anemia, Sideroblastic, 1	Anemic pallor	OMIM:300751
Hawkinsinuria	Fine hair, Sparse hair, Abnormal circulating tyrosine concentration	ORPHA:2118
Inflammatory Bowel Disease, Immunodeficiency, And Encephalopathy	Perianal abscess, Defective T cell proliferation, Increased circulating IgG level, Pancolitis, In...	OMIM:618213
Igg4-Related Kidney Disease	Enlarged kidney, Sclerosing cholangitis, Pericarditis, Increased circulating IgG4 level, Elevated...	ORPHA:449395
Absence Of Fingerprints-Congenital Milia Syndrome	Thickened skin, Thin skin, Skin rash, Hypohidrosis	ORPHA:1658
Trichothiodystrophy 7, Nonphotosensitive	Ichthyosis, Brittle hair, Tiger tail banding, Congenital nonbullous ichthyosiform erythroderma, F...	OMIM:618546
Keratosis Linearis With Ichthyosis Congenita And Sclerosing Keratoderma	Parakeratosis, Ichthyosis, Nail dystrophy, Linear arrays of macular hyperkeratoses in flexural ar...	OMIM:601952
Amyloidosis, Familial Visceral	Hepatomegaly, Skin rash, Cholestasis, Splenomegaly, Edema	OMIM:105200
Adult-Onset Nemaline Myopathy	Mildly elevated creatine kinase, Paraproteinemia	ORPHA:171442
Hypotrichosis With Juvenile Macular Degeneration	Brittle hair, Hyperkeratosis, Sparse scalp hair, Fine hair, Pili torti	ORPHA:1573
Congenital Disorder Of Glycosylation, Type Ia	Hepatomegaly, Thrombocytosis, Hepatic fibrosis, Decreased circulating IgG level, Pericarditis, Pe...	OMIM:212065
Trichothiodystrophy 8, Nonphotosensitive	Trichorrhexis nodosa, Woolly hair, Eczematoid dermatitis, Sparse eyebrow, Sparse hair	OMIM:619691
Tooth Agenesis, Selective, 8	Sparse eyebrow, Sparse hair	OMIM:617073
Vohwinkel Syndrome, Variant Form	Parakeratosis, Abnormal hair morphology, Hyperkeratosis, Honeycomb palmoplantar hyperkeratosis, H...	OMIM:604117
Atrophoderma Vermiculata	Hyperkeratotic papule, Pruritus, Follicular hyperkeratosis	ORPHA:79100
Dermoodontodysplasia	Toenail dysplasia, Sparse scalp hair, Hypohidrosis, Thin skin, Sparse body hair, Fingernail dyspl...	ORPHA:1660
Woolly Hair, Hypotrichosis, Everted Lower Lip, And Outstanding Ears	Woolly hair, Sparse hair	OMIM:278200
Aredyld	Generalized hypotrichosis	OMIM:207780
Congenital Disorder Of Glycosylation, Type Iib	Hepatomegaly, Decreased circulating antibody level, Long eyelashes, Generalized edema, Decreased ...	OMIM:606056
Rothmund-Thomson Syndrome	Aplastic anemia, Nail dysplasia, Calcinosis, Anemia, Small nail, Malar rash, Abnormality of the n...	ORPHA:2909
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders	Sepsis, Enlarged kidney, Anemia, Thick hair, Long eyelashes, Thickened skin, Decreased circulatin...	ORPHA:505248
Rapp-Hodgkin Syndrome	Nail dystrophy, Recurrent otitis media, Pili canaliculi, Decreased number of sweat glands, Small ...	OMIM:129400
Focal Facial Dermal Dysplasia 3, Setleis Type	Low anterior hairline, Absent lower eyelashes, Distichiasis, Sparse hair	OMIM:227260
Linear Verrucous Nevus Syndrome	Hyperkeratosis, Hypophosphatemia, Sparse scalp hair	ORPHA:2611
Pachyonychia Congenita	Nail dystrophy, Palmoplantar keratoderma, Onychogryposis of toenails, Alopecia, Linear arrays of ...	ORPHA:2309
Pachydermoperiostosis	Hepatomegaly, Anemia, Seborrheic dermatitis, Arthritis, Abnormal hair quantity, Eczematoid dermat...	ORPHA:2796
Agammaglobulinemia 1, Autosomal Recessive	Recurrent otitis media, Panhypogammaglobulinemia, Recurrent respiratory infections, Recurrent bac...	OMIM:601495
Ichthyosis, Congenital, Autosomal Recessive 9	Hyperkeratosis, Hypohidrosis, Congenital nonbullous ichthyosiform erythroderma, Erythroderma, Hyp...	OMIM:615023
Riddle Syndrome	Generalized lymphadenopathy, Arthritis, Decreased circulating IgG level, Recurrent viral infectio...	ORPHA:420741
Noonan Syndrome 6	Juvenile myelomonocytic leukemia, Polyhydramnios, Webbed neck, Long eyebrows, Low posterior hairl...	OMIM:613224
Mucoepithelial Dysplasia, Hereditary	Nail dysplasia, Nail dystrophy, Alopecia, Chronic mucocutaneous candidiasis, Chronic monilial nai...	OMIM:158310
Mednik Syndrome	Intrahepatic cholestasis, Ichthyosis, Decreased circulating ceruloplasmin concentration, Decrease...	ORPHA:171851
3-Hydroxy-3-Methylglutaryl-Coa Lyase Deficiency	Reduced HMG-CoA lyase activity in cultured fibroblasts, Hepatomegaly, Cardiac arrest, Elevated ci...	OMIM:246450
Alopecia-Intellectual Disability Syndrome	Ichthyosis, Sparse scalp hair, Sparse body hair, Aplasia/Hypoplasia of the eyebrow, Alopecia	ORPHA:2850
Retinitis Pigmentosa 75	Pallor	OMIM:617023
Hypotrichosis 9	Abnormality of the nail, Abnormal eyelash morphology, Sparse scalp hair, Hypohidrosis, Sparse bod...	OMIM:614237
Trichodysplasia-Xeroderma Syndrome	Trichorrhexis nodosa, Coarse hair, Brittle hair, Sparse scalp hair, Sparse body hair, Sparse eyeb...	ORPHA:3361
Acrokeratoelastoidosis Of Costa	Palmar hyperhidrosis, Hyperkeratotic papule, Palmoplantar hyperkeratosis, Hypergranulosis, Orthok...	ORPHA:38
Congenital Analbuminemia	Hypercholesterolemia, Recurrent lower respiratory tract infections, Increased circulating antibod...	ORPHA:86816
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome	Anemia, Accessory spleen, Recurrent infections, Portal hypertension, Decreased circulating IgG le...	OMIM:620005
Autosomal Erythropoietic Protoporphyria	Cirrhosis, Cholelithiasis, Eczematoid dermatitis, Abnormal circulating porphyrin concentration, E...	ORPHA:79278
Interstitial Lung Disease 2	Cirrhosis, Increased circulating antibody level	OMIM:178500
Classic Hodgkin Lymphoma	Hepatomegaly, Lymphadenopathy, Skin rash, Bone marrow hypocellularity, Hyperhidrosis, Splenomegal...	ORPHA:391
Inflammatory Pseudotumor Of The Liver	Cirrhosis, Increased hepatitis B virus antibody level, Abnormal liver sonography, Biliary tract a...	ORPHA:90003
Bullous Impetigo	Sepsis, Abnormality of the lymphatic system, Recurrent bacterial skin infections, Pustule, Septic...	ORPHA:36237
Kcnq2-Related Epileptic Encephalopathy	Pallor, Facial erythema	ORPHA:439218
Primary Sjögren Syndrome	Increased circulating antibody level, Normochromic anemia, Optic neuritis, Biliary cirrhosis, Leu...	ORPHA:289390
Dyskeratosis Congenita, Autosomal Dominant 1	Aplastic anemia, Premature graying of hair, Nail dystrophy, Cirrhosis, Anemia, Ridged nail, Incre...	OMIM:127550
Myopathic Ehlers-Danlos Syndrome	Pallor	ORPHA:536516
Hereditary Mucoepithelial Dysplasia	Recurrent respiratory infections, Hyperkeratosis, Sparse hair, Fine hair, Alopecia	ORPHA:1839
Immunodeficiency 68	Sepsis, Abnormal natural killer cell count, B lymphocytopenia, Recurrent meningitis, Lymphadeniti...	OMIM:612260
Lysinuric Protein Intolerance	Hypertriglyceridemia, Decreased HDL cholesterol concentration, Increased circulating antibody lev...	ORPHA:470
Interstitial Cystitis	Elevated circulating C-reactive protein concentration, Abnormality of tumor necrosis factor secre...	ORPHA:37202
Subcorneal Pustular Dermatosis	Rheumatoid arthritis, Pustule, Increased circulating antibody level, Pruritus	ORPHA:48377
3-Hydroxy-3-Methylglutaric Aciduria	Prolonged prothrombin time, Jaundice, Elevated circulating hepatic transaminase concentration, He...	ORPHA:20
Cerebellar Ataxia-Ectodermal Dysplasia Syndrome	Fine hair, Sparse hair	ORPHA:1174
Cardiofaciocutaneous Syndrome 3	Hyperkeratosis, Hyperhidrosis, Webbed neck, Curly hair	OMIM:615279
Dravet Syndrome	Pallor	ORPHA:33069
Odontoonychodermal Dysplasia	Dry hair, Nail dysplasia, Dystrophic fingernails, Thin nail, Ridged nail, Dystrophic toenail, Spa...	OMIM:257980
Chondrodysplasia Punctata 2, X-Linked Dominant	Polyhydramnios, Congenital ichthyosiform erythroderma, Patchy alopecia, Sparse eyelashes, Sparse ...	OMIM:302960
Cardiofaciocutaneous Syndrome 1	Ichthyosis, Polyhydramnios, Webbed neck, Slow-growing hair, Hyperkeratosis, Absent eyelashes, Ato...	OMIM:115150
Hatipoglu Immunodeficiency Syndrome	Premature graying of hair, Recurrent otitis media, Anemia, Pancytopenia, Recurrent infections, Re...	OMIM:620331
Leopard Syndrome 3	Webbed neck, Hyperkeratosis, Low posterior hairline, Curly hair, Epidermal hyperkeratosis	OMIM:613707
Oligoarticular Juvenile Idiopathic Arthritis	Increased circulating interferon-gamma concentration, Arthritis, Knee osteoarthritis, Uveitis, Rh...	ORPHA:85410
Dyskeratosis Congenita	Premature graying of hair, Nail dystrophy, Neoplasm of the pancreas, Aplastic/hypoplastic toenail...	ORPHA:1775
Xq27.3Q28 Duplication Syndrome	Sparse body hair	ORPHA:261483
Sporadic Pheochromocytoma/Secreting Paraganglioma	Congestive heart failure, Hypertension associated with pheochromocytoma, Sinus tachycardia, Cereb...	ORPHA:276621
Lymphatic Malformation 12	Polyhydramnios, Hyperkeratosis, Lymphedema, Recurrent upper and lower respiratory tract infection...	OMIM:620014
Hypotrichosis 7	Brittle hair, Abnormal sweat gland morphology, Abnormality of the nail, Sparse scalp hair, Woolly...	OMIM:604379
Lysinuric Protein Intolerance	Hepatomegaly, Anemia, Hemophagocytosis, Pancreatitis, Intraalveolar phospholipid accumulation, Hy...	OMIM:222700
Acute Radiation Syndrome	Hyperkeratosis, Inflammatory abnormality of the skin, Thrombocytopenia, Lymphopenia, Interstitial...	ORPHA:454831
Syndromic Recessive X-Linked Ichthyosis	Acute leukemia, Hyperkeratosis, Ichthyosis, Hypohidrosis	ORPHA:281090
Neuropathy, Hereditary Sensory, Type If	Hyperkeratosis, Osteomyelitis	OMIM:615632
Cardiofaciocutaneous Syndrome 4	Alopecia of scalp, Polyhydramnios, Curly hair, Sparse eyelashes, Absent eyebrow, Hyperhidrosis, S...	OMIM:615280
Kikuchi-Fujimoto Disease	Palpebral edema, Lymphocytosis, Skin rash, Pustule, Leukopenia, Splenomegaly, Neutropenia, Myocar...	ORPHA:50918
Protoporphyria, Erythropoietic, 1	Hypertriglyceridemia, Cholelithiasis, Eczematoid dermatitis, Edema, Hemolytic anemia, Pruritus	OMIM:177000
Alveolar Echinococcosis	Liver abscess, Anemia, Increased circulating antibody level, Cholangitis, Jaundice, Abnormal sple...	ORPHA:284
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities	Macrocytic anemia, Poikilocytosis, Elliptocytosis, Anisocytosis, Thrombocytopenia, Abnormal retic...	OMIM:300835
Pruritic Urticarial Papules And Plaques Of Pregnancy	Parakeratosis, Palmar pruritus, Pruritus on foot, Eczematoid dermatitis, Pruritis on abdomen, Pru...	ORPHA:64745
Combined Immunodeficiency-Enteropathy Spectrum	Autoimmune hemolytic anemia, Recurrent abscess formation, Nail dystrophy, Polyhydramnios, Alopeci...	ORPHA:436252
Ectodermal Dysplasia 4, Hair/Nail Type	Nail dystrophy, Brittle hair, Abnormal sweat gland morphology, Absent eyelashes, Absent eyebrow, ...	OMIM:602032
Hennekam Syndrome	Hydrops fetalis, Lymphadenopathy, Chylothorax, Hypocalcemia, Decreased circulating antibody level...	ORPHA:2136
Rasmussen Subacute Encephalitis	Decreased circulating total IgA	ORPHA:1929
Shwachman-Diamond Syndrome	Aplastic anemia, Macrocytic anemia, Skin rash, Chronic neutropenia, Sinusitis, Bone marrow hypoce...	ORPHA:811
Gaucher Disease, Perinatal Lethal	Ichthyosis, Anemia, Polyhydramnios, Cardiomegaly, Hepatomegaly, Hyperkeratosis, Ascites, Neonatal...	OMIM:608013
Lymphatic Filariasis	Lymphangiectasis, Lymphadenopathy, Circulating immune complexes, Predominantly lower limb lymphed...	ORPHA:2035
Cartilage-Hair Hypoplasia	Susceptibility to chickenpox, Impaired lymphocyte transformation with phytohemagglutinin, Anemia,...	OMIM:250250
Acute Generalized Exanthematous Pustulosis	Cheilitis, Facial edema, Lymphadenopathy, Cholestasis, Leukocytosis, Predominantly dermal neutrop...	ORPHA:293173
Ichthyosis-Alopecia-Eclabion-Ectropion-Intellectual Disability Syndrome	Alopecia of scalp, Generalized hyperkeratosis, Absent pubic hair, Generalized ichthyosis, Sparse ...	ORPHA:2269
Congenital Muscular Dystrophy-Respiratory Failure-Skin Abnormalities-Joint Hyperlaxity Syndrome	Mildly elevated creatine kinase, Recurrent respiratory infections, Follicular hyperkeratosis	ORPHA:486815
Dengue Fever	Hepatomegaly, Skin rash, Hypoproteinemia, Ascites, Thrombocytopenia, Leukopenia, Pruritus	ORPHA:99828
Ectodermal Dysplasia/Skin Fragility Syndrome	Alopecia of scalp, Nail dystrophy, Dystrophic fingernails, Absent eyelashes, Absent eyebrow, Anhi...	OMIM:604536
Common Variable Immunodeficiency	Chronic otitis media, Lymphadenopathy, Recurrent respiratory infections, Recurrent bronchitis, De...	ORPHA:1572
Immunodeficiency 31C	Autoimmune hemolytic anemia, Chronic oral candidiasis, Hepatomegaly, Impaired lymphocyte transfor...	OMIM:614162
Monosomy 22	Hypochromic microcytic anemia, Seborrheic dermatitis, Synophrys, Thickened skin, Hyperhidrosis, H...	ORPHA:96123
Drug Reaction With Eosinophilia And Systemic Symptoms	Myocarditis, Lymphadenopathy, Lymphocytosis, Thyroiditis, Skin rash, Interstitial pneumonitis, An...	ORPHA:139402
Idiopathic Localized Lipodystrophy	Morphea, Inflammatory abnormality of the skin, Pruritus, Scleroderma	ORPHA:90158
Dubowitz Syndrome	Aplastic anemia, Recurrent infections, Sparse scalp hair, Eczematoid dermatitis, Sparse lateral e...	OMIM:223370
Gand Syndrome	Sparse hair	OMIM:615074
Incontinentia Pigmenti	Hypoplastic fingernail, Abnormal hair morphology, Abnormality of the nail, Alopecia, Skin rash, H...	ORPHA:464
Igg4-Related Submandibular Gland Disease	Prostatitis, Increased circulating antibody level, Cholangitis, Lymphadenopathy, Increased circul...	ORPHA:449432
Familial Mediterranean Fever	Hepatomegaly, Elevated circulating C-reactive protein concentration, Crohn's disease, Arthritis, ...	OMIM:249100
Juvenile Arthritis	Skin rash, Thrombocytosis, Leukocytosis	OMIM:618795
Erythrokeratodermia Variabilis Et Progressiva 1	Erythroderma, Patchy palmoplantar hyperkeratosis, Hypergranulosis, Generalized hyperkeratosis	OMIM:133200
Vexas Syndrome	Nasal chondritis, Macrocytic anemia, Arteritis, Elevated circulating C-reactive protein concentra...	OMIM:301054
Palmoplantar Keratoderma And Woolly Hair	Leukonychia, Sparse scalp hair, Woolly hair, Sparse eyelashes, Sparse body hair, Sparse eyebrow, ...	OMIM:616099
Keratosis Follicularis Spinulosa Decalvans, Autosomal Dominant	Nail dysplasia, Nail dystrophy, Scarring alopecia of scalp, Folliculitis, Sparse eyelashes, Bleph...	OMIM:612843
Ectodermal Dysplasia-Blindness Syndrome	Hyperkeratosis, Hypohidrosis, Abnormal fingernail morphology, Sparse hair, Recurrent respiratory ...	ORPHA:1806
Dowling-Degos Disease	Arthritis, Hyperkeratosis, Abnormal fingernail morphology, Hyperkeratotic papule, Pruritus, Acne ...	ORPHA:79145
Acrokeratosis Verruciformis Of Hopf	Nail dystrophy, Leukonychia, Hyperkeratosis, Anonychia, Punctate palmoplantar hyperkeratosis, Hyp...	ORPHA:79151
Milroy Disease	Toenail dysplasia, Predominantly lower limb lymphedema, Hyperkeratosis, Lymphedema, Erysipelas, P...	ORPHA:79452
Ectodermal Dysplasia 11B, Hypohidrotic/Hair/Tooth Type, Autosomal Recessive	Absent eyelashes, Hypoplastic nipples, Sparse scalp hair, Absent nipple, Absent eyebrow, Anhidros...	OMIM:614941
Parenteral Nutrition-Associated Cholestasis	Cirrhosis, Jaundice, Hepatomegaly, Cholelithiasis, Hyperlipidemia, Portal hypertension, Biliary h...	ORPHA:567983
Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome	Palpebral edema, Hydrops fetalis, Predominantly lower limb lymphedema, Absent eyelashes, Abnormal...	ORPHA:69735
Ichthyosis, Congenital, Autosomal Recessive 5	Parakeratosis, Palmoplantar keratoderma, Congenital nonbullous ichthyosiform erythroderma, Erythr...	OMIM:604777
Ramon Syndrome	Hyperkeratosis, Generalized hirsutism	ORPHA:3019
Ectodermal Dysplasia-Sensorineural Deafness Syndrome	Coarse hair, Hyperkeratosis, Sparse hair, Brittle hair	ORPHA:1883
Woolly Hair	Hypopigmentation of hair, Brittle hair, Slow-growing hair, Abnormality of hair texture, Woolly ha...	ORPHA:170
O'Sullivan-Mcleod Syndrome	Eosinophilia, Increased circulating antibody level	ORPHA:99965
Lelis Syndrome	Nail dystrophy, Yellow nails, Acanthosis nigricans, Hypohidrosis, Sparse lateral eyebrow, Abnorma...	ORPHA:140936
Muckle-Wells Syndrome	Ichthyosis, Anemia, Recurrent aphthous stomatitis, Hepatomegaly, Arthritis, Skin rash, Episclerit...	ORPHA:575
Heyn-Sproul-Jackson Syndrome	Sparse hair	OMIM:618724
Generalized Juvenile Polyposis/Juvenile Polyposis Coli	Anemic pallor, Abnormal bleeding, Hematochezia	ORPHA:329971
Skeletal Dysplasia-Epilepsy-Short Stature Syndrome	Increased circulating IgE level	ORPHA:1858
Tumor Necrosis Factor Receptor 1 Associated Periodic Syndrome	Recurrent pharyngitis, Lymphadenopathy, Elevated circulating C-reactive protein concentration, My...	ORPHA:32960
Generalized Pseudohypoaldosteronism Type 1	Hyperkalemia, Recurrent tonsillitis, Cholelithiasis, Dehydration, Atopic dermatitis, Increased ci...	ORPHA:171876
Holocarboxylase Synthetase Deficiency	Perioral eczema, Keratoconjunctivitis, Eczematoid dermatitis, Hyperammonemia, Thrombocytopenia, A...	ORPHA:79242
Ifap Syndrome 2	Nail dystrophy, Ichthyosis follicularis, Atrichia, Angular cheilitis, Posterior blepharitis, Kera...	OMIM:619016
Autoinflammatory Syndrome, Familial, Behcet-Like 1	Skin rash, Lymphopenia, Thrombocytopenia, Anterior uveitis, Hemolytic anemia, Colitis	OMIM:616744
Menkes Disease	Alopecia, Decreased circulating ceruloplasmin concentration, Sparse hair, Brittle hair	OMIM:309400
Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome	Palpebral edema, Absent eyelashes, Lymphedema, Sparse scalp hair, Absent eyebrow, Sparse eyelashe...	OMIM:137940
Complement Factor I Deficiency	Decreased circulating complement C3 concentration, Recurrent otitis media, Decreased circulating ...	OMIM:610984
Recessive X-Linked Ichthyosis	Hypohidrosis, Hyperkeratosis, Ichthyosis	ORPHA:461
Myeloma, Multiple	Paraproteinemia	OMIM:254500
Familial Benign Copper Deficiency	Early balding, Anemia, Decreased circulating copper concentration, Acne	ORPHA:1551
Psoriasis 2	Hyperkeratosis, Psoriasiform dermatitis, Parakeratosis	OMIM:602723
Bazex-Dupré-Christol Syndrome	Trichorrhexis nodosa, Coarse hair, Sparse or absent eyelashes, Sparse scalp hair, Sparse eyebrow,...	ORPHA:113
Marburg Hemorrhagic Fever	Increased circulating antibody level, Skin rash, Reticulocytosis, Pericarditis, Hyperammonemia, L...	ORPHA:99826
Macrocephaly-Intellectual Disability-Neurodevelopmental Disorder-Small Thorax Syndrome	Decreased circulating IgA level, Curly hair	ORPHA:457485
Caffey Disease	Increased circulating antibody level	ORPHA:1310
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form	Sepsis, Nail dystrophy, Anemia, Onychogryposis, Recurrent infections, Decreased circulating antib...	ORPHA:79396
Filippi Syndrome	Frontal hirsutism, Hypertrichosis, Sparse hair	OMIM:272440
New-Onset Refractory Status Epilepticus	Abnormal circulating interleukin concentration, Infectious encephalitis	ORPHA:363558
Propionic Acidemia	Hepatomegaly, Pancreatitis, Anemia, Pancytopenia, Dehydration, Eczematoid dermatitis, Hyperammone...	OMIM:606054
Schöpf-Schulz-Passarge Syndrome	Palmoplantar keratoderma, Alopecia, Sparse hair, Aplasia/Hypoplasia of the eyebrow	ORPHA:50944
Paternal 20Q13.2Q13.3 Microdeletion Syndrome	Thin skin, Oligohydramnios, Sparse hair, Aplasia/Hypoplasia of the eyebrow	ORPHA:261304
Peeling Skin With Leukonychia, Acral Punctate Keratoses, Cheilitis, And Knuckle Pads	Cheilitis, Leukonychia, Hyperkeratosis, Angular cheilitis, Onycholysis, Punctate palmoplantar hyp...	OMIM:616295
Refractory Anemia With Excess Blasts	Anemic pallor, Palpitations, Abnormal bleeding, Retinal hemorrhage	ORPHA:86839
Cleft Lip/Palate-Ectodermal Dysplasia Syndrome	Aplasia/Hypoplasia of the eyebrow, Nail dystrophy, Dystrophic fingernails, Highly arched eyebrow,...	ORPHA:3253
Tempi Syndrome	Transudative pleural effusion, Increased circulating IgG level, Ascites, Polycythemia, Increased ...	ORPHA:284227
Cone-Rod Dystrophy 8	Pallor	OMIM:605549
Pearson Marrow-Pancreas Syndrome	Hepatomegaly, Elevated circulating hepatic transaminase concentration, Macronodular cirrhosis, Ex...	OMIM:557000
X-Linked Hypohidrotic Ectodermal Dysplasia	Hypohidrosis, Sparse body hair, Sparse hair, Aplasia/Hypoplasia of the eyebrow	ORPHA:181
Lymphatic Malformation 4	Hyperkeratosis, Lymphedema, Toenail dysplasia, Pedal edema	OMIM:615907
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia	Lymphadenopathy, Elevated circulating C-reactive protein concentration, Lymphocytosis, Decreased ...	OMIM:617718
Alpha-N-Acetylgalactosaminidase Deficiency Type 1	Hyperkeratosis, Lymphedema, Hepatomegaly	ORPHA:79279
Donohue Syndrome	Nail dysplasia, Acanthosis nigricans, Recurrent infections, Hyperkeratosis, Cholestasis, Hepatic ...	OMIM:246200
Lead Poisoning	Abnormal T cell morphology, Decreased HDL cholesterol concentration, Anemia, Increased circulatin...	ORPHA:330015
Rift Valley Fever	Jaundice, Anemia, Increased circulating IgG level, Skin rash, Severe viral infection, Increased c...	ORPHA:319251
Cutis Laxa, Autosomal Recessive, Type Iiia	Thin skin, Hypoornithinemia, Hyperammonemia, Sparse hair, Low plasma citrulline, Hypoprolinemia, ...	OMIM:219150
Gamma-Heavy Chain Disease	Autoimmune hemolytic anemia, Hepatomegaly, Anemia, Lymphadenopathy, Recurrent respiratory infecti...	ORPHA:100026
Beta-Ketothiolase Deficiency	Pallor, Hypertension, Hypotension, Hepatomegaly	ORPHA:134
Pachyonychia Congenita 2	Nail dysplasia, Nail dystrophy, Subungual hyperkeratosis, Folliculitis, Angular cheilitis, Sparse...	OMIM:167210
Trichothiodystrophy	Panhypogammaglobulinemia, Ridged nail, Recurrent bronchopulmonary infections, Aplasia/Hypoplasia ...	ORPHA:33364
Naxos Disease	Nail dystrophy, Cardiomegaly, Diffuse palmoplantar hyperkeratosis, Hyperkeratosis, Woolly hair, C...	OMIM:601214
Lujo Hemorrhagic Fever	Myocarditis, Elevated circulating C-reactive protein concentration, Periorbital edema, Skin rash,...	ORPHA:319213
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 1	Pallor	OMIM:600462
Pressure-Induced Localized Lipoatrophy	Inflammatory abnormality of the skin	ORPHA:90160
Costello Syndrome	Polyhydramnios, Acanthosis nigricans, Abnormal hair morphology, Hyperkeratosis, Woolly hair, Deep...	ORPHA:3071
Lichen Planus Pemphigoides	Abnormality of the nail, Hyperkeratosis, Blepharitis, Conjunctivitis, Pruritus	ORPHA:254478
Ichthyosis, Annular Epidermolytic, 1	Ichthyosis, Hyperparakeratosis, Abnormal hair morphology, Abnormality of the nail, Congenital bul...	OMIM:607602
Lassa Fever	Sepsis, Jaundice, Increased circulating IgM level, Conjunctivitis, Facial edema	ORPHA:99824
Tay-Sachs Disease	Pallor	OMIM:272800
Interstitial Granulomatous Dermatitis With Arthritis	Rheumatoid arthritis, Elevated circulating C-reactive protein concentration, Inflammatory abnorma...	ORPHA:79099
Histiocytoid Cardiomyopathy	Congestive heart failure, Wolff-Parkinson-White syndrome, Atrial flutter, Hepatomegaly, Atrial fi...	ORPHA:137675
Say-Barber-Miller Syndrome	Abnormal T cell morphology, Panniculitis, Highly arched eyebrow, Decreased circulating antibody l...	ORPHA:3132
Trichothiodystrophy 4, Nonphotosensitive	Nail dysplasia, Trichorrhexis nodosa, Nail dystrophy, Brittle hair, Small nail, Abnormality of ha...	OMIM:234050
Necrobiosis Lipoidica	Granuloma, Inflammatory abnormality of the skin, Abnormality of neutrophil physiology	ORPHA:542592
Chronic Granulomatous Disease	Sepsis, Liver abscess, Mediastinal lymphadenopathy, Hepatomegaly, Inflammatory abnormality of the...	ORPHA:379
Tick-Borne Encephalitis	Abnormal circulating cytokine concentration, Myelitis, Elevated circulating C-reactive protein co...	ORPHA:297
Aicardi-Goutieres Syndrome 9	Hepatomegaly, Anemia, Recurrent urinary tract infections, Acute pancreatitis, Chilblains, Ascites...	OMIM:619487
Hair Defect With Photosensitivity And Mental Retardation	Brittle hair, Sparse eyelashes, Sparse eyebrow, Sparse hair, Coarse hair	OMIM:234030
Hereditary Pheochromocytoma-Paraganglioma	Congestive heart failure, Hypertension associated with pheochromocytoma, Sinus tachycardia, Cereb...	ORPHA:29072
Scrub Typhus	Myocarditis, Lymphadenopathy, Skin rash, Hyperhidrosis, Splenomegaly, Anterior uveitis, Meningiti...	ORPHA:83317
Amelo-Onycho-Hypohidrotic Syndrome	Hyperkeratosis, Hypohidrosis, Onycholysis, Abnormal fingernail morphology, Hypoplastic toenails, ...	ORPHA:1028
Focal Facial Dermal Dysplasia Type Iii	Highly arched eyebrow, Distichiasis, Sparse lateral eyebrow, Abnormal hair pattern, Sparse lower ...	ORPHA:1807
Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome	Cholestatic liver disease, Cirrhosis, Sclerosing cholangitis, Increased circulating IgG level, Hy...	ORPHA:562639
Idiopathic Hypereosinophilic Syndrome	Congestive heart failure, Portal fibrosis, Elevated circulating hepatic transaminase concentratio...	ORPHA:3260
Mandibuloacral Dysplasia	Hypertriglyceridemia, Acanthosis nigricans, Hypoplastic fingernail, Thin skin, Sparse hair, Incre...	ORPHA:2457
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome	Polyhydramnios, Decreased proportion of CD8-positive T cells, Hepatomegaly, Increased circulating...	ORPHA:508533
Neurodevelopmental Disorder With Facial Dysmorphism, Absent Language, And Pseudo-Pelger-Huet Anomaly	Synophrys, Curly hair, Hyposegmentation of neutrophil nuclei, Sparse eyebrow, Sparse hair	OMIM:620075
Crandall Syndrome	Brittle hair, Sparse body hair, Aplasia/Hypoplasia of the eyebrow, Fine hair, Pili torti, Alopecia	ORPHA:202
Phoar2-Enteropathy Syndrome	Seborrheic dermatitis, Thickened skin, Hyperhidrosis, Acne, Hypoalbuminemia	OMIM:614441
6-Pyruvoyl-Tetrahydropterin Synthase Deficiency	Pallor	ORPHA:13
Epilepsy-Telangiectasia Syndrome	Decreased circulating antibody level, Decreased circulating IgA level	ORPHA:1951
Trichodental Dysplasia	Slow-growing hair, Fine hair, Sparse hair, Brittle hair	OMIM:601453
Acquired Purpura Fulminans	Skin rash, Thrombocytopenia, Elevated circulating C-reactive protein concentration, Sepsis	ORPHA:49566
Scleromyxedema	Elevated circulating creatine kinase concentration, Sclerodactyly, Thickened skin, Paraproteinemi...	ORPHA:167635
Cleft Lip/Palate-Ectodermal Dysplasia Syndrome	Dry hair, Nail dysplasia, Brittle hair, Atopic dermatitis, Progressive hypotrichosis, Sparse eyel...	OMIM:225060
Pseudopelade Of Brocq	Cheilitis, Abnormal hair morphology, Abnormality of the nail, Sparse scalp hair, Aplasia/Hypoplas...	ORPHA:129
Biotinidase Deficiency	Hepatomegaly, Seborrheic dermatitis, Skin rash, Hyperammonemia, Splenomegaly, Conjunctivitis, Rec...	OMIM:253260
Immunodeficiency 55	Ichthyosis, Lymphadenopathy, Recurrent infections, Eczematoid dermatitis, Lymphopenia, Recurrent ...	OMIM:617827
Inflammatory Bowel Disease 28, Autosomal Recessive	Perianal abscess, Pyoderma, Crohn's disease, Folliculitis, Enterocolitis, Colitis	OMIM:613148
Methylmalonic Aciduria And Homocystinuria, Cblc Type	Decreased methionine synthase activity, Decreased methylmalonyl-CoA mutase activity, Hepatomegaly...	OMIM:277400
Reactive Arthritis	Dystrophic fingernails, Recurrent aphthous stomatitis, Abnormality of the nail, Arthritis, Hyperk...	ORPHA:29207
Noonan Syndrome 14	Polyhydramnios, Webbed neck, Low posterior hairline, Curly hair, Sparse eyebrow, Hyperhidrosis, S...	OMIM:619745
Bryant-Li-Bhoj Neurodevelopmental Syndrome 2	Hyperconvex nail, Sparse hair, Eczematoid dermatitis	OMIM:619721
Sialidosis Type 1	Hyperkeratosis, Splenomegaly	ORPHA:812
Cardiofaciocutaneous Syndrome 2	Fine hair, Absent eyebrow, Sparse hair, Curly hair	OMIM:615278
Cardiofaciocutaneous Syndrome	Dystrophic fingernails, Ichthyosis, Sparse or absent eyelashes, Webbed neck, Brittle hair, Slow-g...	ORPHA:1340
Antisynthetase Syndrome	Myocarditis, Myositis, Arthritis, Skin rash, Xerostomia, Elevated circulating creatine kinase con...	ORPHA:81
Alopecia-Contractures-Dwarfism-Intellectual Disability Syndrome	Ichthyosis, Hyperkeratosis, Hypohidrosis, Abnormal toenail morphology, Sparse hair, Alopecia	ORPHA:1005
Anauxetic Dysplasia 2	Nail dysplasia, Sparse hair, Small nail	OMIM:617396
Ectodermal Dysplasia 9, Hair/Nail Type	Absent hair, Nail dystrophy, Abnormal sweat gland morphology, Abnormal sebaceous gland morphology...	OMIM:614931
Mycetoma	Pelvic mass, Abnormality of the lymphatic system, Recurrent bacterial skin infections, Cobbleston...	ORPHA:2583
Tetraamelia With Ectodermal Dysplasia And Lacrimal Duct Abnormalities	Sparse hair	OMIM:273390
Gaucher Disease	Decreased HDL cholesterol concentration, Ichthyosis, Anemia, Increased circulating antibody level...	ORPHA:355
Ectodermal Dysplasia 1, Hypohidrotic, X-Linked	Absent eyebrow, Brittle hair, Absent eyelashes, Hypoplastic nipples, Absent nipple, Eczematoid de...	OMIM:305100
Peeling Skin Syndrome 4	Nail dystrophy, Ichthyosis, Hyperkeratosis, Palmoplantar keratoderma, Orthokeratosis	OMIM:607936
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome	Coarse hair, Parakeratosis, Hepatomegaly, Cholelithiasis, B lymphocytopenia, Seborrheic dermatiti...	ORPHA:83617
Corpus Callosum, Agenesis Of, With Facial Anomalies And Cerebellar Ataxia	Hirsutism, Long eyelashes, Low anterior hairline, Thick eyebrow, Sparse hair, Upper eyelid edema	OMIM:616819
Erythrokeratodermia Variabilis Et Progressiva 3	Leukonychia, Hyperkeratosis, Palmoplantar keratoderma, Hypergranulosis, Orthokeratosis	OMIM:617525
Eec Syndrome	Coarse hair, Nail dystrophy, Inflammatory abnormality of the eye, Slow-growing hair, Hyperkeratos...	ORPHA:1896
Primary Sclerosing Cholangitis	Cholestasis, Ascites, Splenomegaly, Polyclonal elevation of IgM, Jaundice, Thyroiditis, Hepatocel...	ORPHA:171
Noonan Syndrome-Like Disorder With Loose Anagen Hair 1	Polyhydramnios, Ichthyosis, Loose anagen hair, Webbed neck, Hyperkeratosis, Sparse scalp hair, Ec...	OMIM:607721
Cataracts, Hearing Impairment, Nephrotic Syndrome, And Enterocolitis 1	Enterocolitis, Hyperkeratosis, Bone marrow hypocellularity	OMIM:301108
Adams-Oliver Syndrome	Cirrhosis, Hypoplastic fingernail, Aplastic/hypoplastic toenail, Ascites, Absent fingernail, Port...	ORPHA:974
Crimean-Congo Hemorrhagic Fever	Ascites, Hyperhidrosis, Leukopenia, Splenomegaly, Erythema nodosum, Cholecystitis, Morbilliform r...	ORPHA:99827
Ichthyosis, Congenital, Autosomal Recessive 3	Ichthyosis, Hyperkeratosis, Hypohidrosis, Anhidrosis, Congenital nonbullous ichthyosiform erythro...	OMIM:606545
Hyper-Ige Syndrome 1, Autosomal Dominant, With Recurrent Infections	Chronic oral candidiasis, Recurrent Staphylococcus aureus infections, Increased circulating IgE l...	OMIM:147060
Fumarase Deficiency	Decreased fumarate hydratase activity, Pallor, Intrahepatic cholestasis, Hepatic failure	OMIM:606812
Ullrich Congenital Muscular Dystrophy 1A	Mildly elevated creatine kinase, Hyperhidrosis, Recurrent lower respiratory tract infections, Fol...	OMIM:254090
Cranioectodermal Dysplasia	Abnormal fingernail morphology, Abnormal toenail morphology, Sparse hair	ORPHA:1515
Periodic Fever, Familial, Autosomal Dominant	Hepatomegaly, Myositis, Periorbital edema, Skin rash, Erysipelas, Conjunctivitis, Hepatic amyloid...	OMIM:142680
Imerslund-Gräsbeck Syndrome	Tachycardia, Abnormal bleeding, Pallor	ORPHA:35858
2Q32Q33 Microdeletion Syndrome	Fine hair, Sparse hair	ORPHA:251019
Hereditary Sensory And Autonomic Neuropathy Type 1	Hyperkeratosis, Osteomyelitis	ORPHA:36386
Fanconi Anemia, Complementation Group I	Pallor	OMIM:609053
Agel Amyloidosis	Nail dystrophy, Keratoconjunctivitis sicca, Xerostomia, Abnormal spleen morphology, Sparse hair, ...	ORPHA:85448
Onychotrichodysplasia And Neutropenia	Trichorrhexis nodosa, Hypoplastic fingernail, Chronic irritative conjunctivitis, Curly eyelashes,...	OMIM:258360
Mutilating Palmoplantar Keratoderma With Periorificial Keratotic Plaques	Thickened skin, Anhidrosis, Abnormal fingernail morphology, Sparse hair, Palmoplantar keratoderma...	ORPHA:659
Rat-Bite Fever	Morbilliform rash, Myocarditis, Sepsis, Abdominal aseptic abscess, Anemia, Pancreatitis, Arthriti...	ORPHA:31205
Yellow Fever	Jaundice, Increased circulating interleukin 6 concentration, Hyperbilirubinemia, Skin rash, Acute...	ORPHA:99829
Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, And Calvarial Hyperostosis	Jaundice, Hepatomegaly, Skin rash, Anemia of inadequate production, Exocrine pancreatic insuffici...	OMIM:612714
Plummer-Vinson Syndrome	Pallor	ORPHA:54028
Al Amyloidosis	Hepatomegaly, Anemia, Increased circulating NT-proBNP concentration, Increased circulating antibo...	ORPHA:85443
Sarcoidosis, Susceptibility To, 1	Hepatomegaly, Mediastinal lymphadenopathy, Increased circulating antibody level, Pancytopenia, Ar...	OMIM:181000
Gaucher Disease Type 3	Hydrops fetalis, Anemia, Increased circulating antibody level, Hepatomegaly, Pancytopenia, Perica...	ORPHA:77261
Neurodevelopmental Disorder With Speech Delay And Variable Ocular Anomalies	Sparse eyebrow, Sparse hair	OMIM:619989
Ectodermal Dysplasia-Skin Fragility Syndrome	Cheilitis, Sepsis, Nail dystrophy, Hypohidrosis, Recurrent pneumonia, Pruritus, Sparse hair, Palm...	ORPHA:158668
Childhood Absence Epilepsy	Pallor	ORPHA:64280
Sarcoidosis, Susceptibility To, 2	Hepatomegaly, Mediastinal lymphadenopathy, Pleural effusion, Bronchiectasis, Splenomegaly, Erythe...	OMIM:612387
Progeroid Syndrome, Petty Type	Brittle hair, Abnormal hair morphology, Abnormality of the nail, Generalized hirsutism, Thick eye...	ORPHA:2963
Peeling Skin Syndrome 5	Hyperkeratosis	OMIM:617115
19Q13.11 Microdeletion Syndrome	Nail dysplasia, Sparse or absent eyelashes, Sparse lateral eyebrow, Thin skin, Sparse hair, Recur...	ORPHA:217346
Mycosis Fungoides	Psoriasiform dermatitis, Lymphadenopathy, Pruritus, Eczematoid dermatitis	OMIM:254400
Igg4-Related Pachymeningitis	Pancreatitis, Elevated circulating C-reactive protein concentration, Parotitis, Lymphadenitis, Re...	ORPHA:449427
Hydrocephalus-Obesity-Hypogonadism Syndrome	Sparse facial hair, Absent facial hair, Low posterior hairline	ORPHA:2183
Palmoplantar Carcinoma, Multiple Self-Healing	Parakeratosis, Nail dystrophy, Chronic rhinitis, Palmoplantar keratoderma, Follicular hyperkeratosis	OMIM:615225
Eem Syndrome	Sparse body hair, Sparse scalp hair, Absent eyebrow	ORPHA:1897
Desbuquois Syndrome	Abnormal eyelash morphology, Sparse hair	ORPHA:1425
Macs Syndrome	Palpebral edema, Ichthyosis, Recurrent aphthous stomatitis, Sparse eyebrow, Sparse hair, Bronchie...	OMIM:613075
Blepharocheilodontic Syndrome 1	Nail dysplasia, High anterior hairline, Small nail, Distichiasis, Sparse hair	OMIM:119580
Cardiocranial Syndrome, Pfeiffer Type	Abnormal hair whorl, Sparse hair	ORPHA:2872
Witkop Syndrome	Ridged nail, Abnormal sweat gland morphology, Hypoplastic fifth toenail, Nail pits, Sparse hair, ...	OMIM:189500
Braddock-Carey Syndrome 1	Thrombocytopenia, Sparse hair, Curly hair	OMIM:619980
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome	Cheilitis, Hyperconvex fingernails, Sparse hair, Thin fingernail, Abnormal hair morphology, Abnor...	ORPHA:2273
Von Hippel-Lindau Disease	Myocarditis, Neoplasm of the pancreas, Pancreatic islet cell adenoma, Hypertension, Cardiomyopath...	ORPHA:892
Methylmalonic Aciduria And Homocystinuria, Cblf Type	Methylmalonic acidemia, Anemia, Hepatomegaly, Pancytopenia, Stomatitis, Recurrent infections, Meg...	OMIM:277380
Peeling Skin Syndrome 6	Parakeratosis, Orthokeratosis, Pruritus, Atopic dermatitis	OMIM:618084
Mucolipidosis Ii Alpha/Beta	Palpebral edema, Recurrent otitis media, Enlarged kidney, Hepatomegaly, Brittle hair, Recurrent b...	OMIM:252500
Short Stature, Microcephaly, And Endocrine Dysfunction	Abnormal circulating lipid concentration, Acanthosis nigricans, Anemia, Sparse hair, Lymphopenia	OMIM:616541
Infantile Digital Fibromatosis	Hyperkeratosis, Parakeratosis	ORPHA:199267
Non-Acquired Isolated Growth Hormone Deficiency	Prolonged neonatal jaundice, Sparse hair	ORPHA:631
Japanese Encephalitis	Pulmonary edema, Increased circulating antibody level, Hyponatremia, Increased circulating IgM le...	ORPHA:79139
Gjc2-Related Late-Onset Primary Lymphedema	Edema of the dorsum of hands, Hypoplasia of lymphatic vessels, Predominantly lower limb lymphedem...	ORPHA:568051
Igg4-Related Ophthalmic Disease	Palpebral edema, Prostatitis, Pancreatitis, Cholangitis, Lymphadenopathy, Elevated circulating C-...	ORPHA:449563
Subacute Cutaneous Lupus Erythematosus	Malar rash, Cheilitis, Discoid lupus rash, Hyperkeratosis	ORPHA:163525
Methylmalonate Semialdehyde Dehydrogenase Deficiency	Methylmalonic acidemia, Sparse hair	OMIM:614105
Ifap Syndrome 1, With Or Without Bresheck Syndrome	Nail dysplasia, Nail dystrophy, Ichthyosis follicularis, Periungual erythema, Oligohydramnios, Hy...	OMIM:308205
Primary Microcephaly-Mild Intellectual Disability-Young-Onset Diabetes Syndrome	Fine hair, Low anterior hairline, Sparse hair, Synophrys	ORPHA:391408
Leukocyte Adhesion Deficiency	Perianal abscess, Nail dystrophy, Severe periodontitis, Impaired platelet aggregation, Sinusitis,...	ORPHA:2968
Reynolds Syndrome	Calcinosis, Jaundice, Hepatomegaly, Hyperbilirubinemia, Cholestasis, Biliary cirrhosis, Sclerodac...	OMIM:613471
Fanconi Anemia, Complementation Group S	Low anterior hairline, Anemia, Sparse hair, Long eyelashes	OMIM:617883
Trichorhinophalangeal Syndrome, Type Iii	Sparse lateral eyebrow, Epidermal hyperkeratosis, Fine hair, Sparse hair	OMIM:190351
Kawasaki Disease	Myocarditis, Abnormality of nail color, Cheilitis, Cervical lymphadenopathy, Jaundice, Recurrent ...	ORPHA:2331
Hereditary Folate Malabsorption	Pallor	ORPHA:90045
Reynolds Syndrome	Cirrhosis, Jaundice, Keratoconjunctivitis sicca, Hepatomegaly, Arthritis, Skin rash, Xerostomia, ...	ORPHA:779
Rhizomelic Chondrodysplasia Punctata	Sparse body hair, Ichthyosis, Alopecia	ORPHA:177
Fg Syndrome 3	Frontal upsweep of hair, Fine hair, Sparse hair	OMIM:300406
Ichthyosis, Spastic Quadriplegia, And Impaired Intellectual Development	Hyperkeratosis, Ichthyosis, Congenital nonbullous ichthyosiform erythroderma	OMIM:614457
Xp22.13P22.2 Duplication Syndrome	High anterior hairline, Sparse hair, Recurrent upper respiratory tract infections	ORPHA:284180
Acrokeratosis Verruciformis	Ridged nail, Hyperkeratosis, Acrokeratosis, Punctate palmoplantar hyperkeratosis, Acantholysis	OMIM:101900
Ectodermal Dysplasia/Short Stature Syndrome	Palmoplantar keratoderma, Hyperkeratosis, Nail dystrophy, Anonychia	OMIM:616029
Microcephaly, Short Stature, And Impaired Glucose Metabolism 2	Fine hair, Sparse hair	OMIM:616817
Intellectual Developmental Disorder, Autosomal Dominant 65	Thin eyebrow, Synophrys, Low posterior hairline, Sparse hair	OMIM:619320
Aredyld Syndrome	Sparse body hair, Hepatomegaly, Splenomegaly, Aplasia/Hypoplasia of the eyebrow	ORPHA:1133
Tetrasomy 12P	Hypohidrosis, Sparse eyebrow, Sparse hair	ORPHA:884
Rothmund-Thomson Syndrome Type 1	Aplastic anemia, Nail dysplasia, Calcinosis, Anemia, Sparse or absent eyelashes, Leukemia, Sparse...	ORPHA:221008
Hyperkeratosis Lenticularis Perstans	Hyperkeratosis lenticularis perstans, Pruritus	ORPHA:409
Porokeratosis 3, Multiple Types	Parakeratosis, Nail dystrophy, Porokeratosis	OMIM:175900
Very Long Chain Acyl-Coa Dehydrogenase Deficiency	Jaundice, Hepatomegaly, Hypocalcemia, Hypoproteinemia, Elevated circulating creatine kinase conce...	ORPHA:26793
Pityriasis Rubra Pilaris	Parakeratosis, Subungual hyperkeratosis, Palmoplantar keratoderma, Hypergranulosis, Orthokeratosis	OMIM:173200
Okur-Chung Neurodevelopmental Syndrome	Polyhydramnios, Highly arched eyebrow, Decreased circulating antibody level, Synophrys, Decreased...	OMIM:617062
Ichthyosis, Congenital, Autosomal Recessive 8	Hyperkeratosis, Ichthyosis, Orthokeratosis, Hypergranulosis	OMIM:613943
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome	Anemia, Panniculitis, Recurrent lower respiratory tract infections, B lymphocytopenia, Reticulocy...	ORPHA:508542
Werner Syndrome	Premature graying of hair, Hyperkeratosis, Sparse scalp hair, White forelock, Abnormal hair whorl...	ORPHA:902
Urban-Rogers-Meyer Syndrome	Increased circulating IgE level	ORPHA:3409
Centrifugal Lipodystrophy	Inflammatory abnormality of the skin, Lymphadenitis, Alopecia	ORPHA:90156
Noonan Syndrome-Like Disorder With Or Without Juvenile Myelomonocytic Leukemia	Juvenile myelomonocytic leukemia, Polyhydramnios, Webbed neck, Chylothorax, Highly arched eyebrow...	OMIM:613563
Trichinellosis	Increased circulating IgE level, Skin rash, Conjunctivitis, Edema, Facial edema, Meningitis, Peri...	ORPHA:863
Ichthyotic Keratoderma, Spasticity, Hypomyelination, And Dysmorphic Facial Features	Parakeratosis, Ichthyosis, Acanthosis nigricans, Hyperkeratosis, Xerostomia	OMIM:618527
Lipodystrophy, Generalized, With Mental Retardation, Deafness, Short Stature, And Slender Bones	Sparse facial hair, Sparse axillary hair	OMIM:608154
Infantile Cataract, Skin Abnormalities, Glutamate Excess, And Impaired Intellectual Development	Hyperkeratosis, Parakeratosis	OMIM:618339
Congenital Disorder Of Glycosylation, Type If	Erythroderma, Hyperkeratosis	OMIM:609180
Cartilage-Hair Hypoplasia	Hepatomegaly, Anemia, Hypocalcemia, Decreased circulating antibody level, Sparse eyebrow, Sparse ...	ORPHA:175
Acrofacial Dysostosis, Palagonia Type	Sparse eyelashes, Sparse lateral eyebrow, Low anterior hairline, Thin eyebrow, Sparse hair, Pili ...	ORPHA:1787
Myopathy, Mitochondrial, And Ataxia	Pallor	OMIM:617675
Cranioectodermal Dysplasia 2	Hydrops fetalis, Polyhydramnios, Cholangitis, Portal fibrosis, Hepatomegaly, Hyperbilirubinemia, ...	OMIM:613610
Sheehan Syndrome	Orthostatic hypotension, Bradycardia, Dry skin, Palpitations, Pallor	ORPHA:91355
Listeriosis	Pericarditis, Pustule, Unusual CNS infection, Cholecystitis, Granulomatosis, Myocarditis, Jaundic...	ORPHA:533
Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects	Stillbirth, Parakeratosis, Small nail, Hyperkeratosis, Elevated 8(9)-cholestenol, Congenital icht...	OMIM:308050
Glycosylphosphatidylinositol Biosynthesis Defect 25	Coarse hair, Sparse hair	OMIM:619985
Adenohypophysitis	Pallor, Orthostatic hypotension	ORPHA:95512
Rothmund-Thomson Syndrome Type 2	Aplastic anemia, Nail dysplasia, Calcinosis, Anemia, Sparse or absent eyelashes, Leukemia, Sparse...	ORPHA:221016
Leprosy	Iritis, Loss of eyelashes, Alopecia, Hyperkeratosis, Absent eyebrow, Hypohidrosis, Sparse body ha...	ORPHA:548
Methylmalonic Acidemia With Homocystinuria Type Cblf	Hyperhomocystinemia, Stomatitis, Recurrent infections, Megaloblastic anemia, Skin rash, Elevated ...	ORPHA:79284
Zinc Deficiency, Transient Neonatal	Alopecia, Decreased serum zinc, Eczematoid dermatitis	OMIM:608118
Shukla-Vernon Syndrome	Sparse hair	OMIM:301029
Congenital Short Bowel Syndrome	Sparse hair	ORPHA:2301
Johnson Neuroectodermal Syndrome	Absent eyelashes, Absent eyebrow, Hypohidrosis, Sparse hair, Alopecia	ORPHA:2316
Primary Triglyceride Deposit Cardiomyovasculopathy	Hepatomegaly, Pancreatitis, Vacuolated lymphocytes, Hyperlipidemia, Elevated circulating creatine...	ORPHA:565612
Joubert Syndrome 37	Hepatomegaly, Sparse hair	OMIM:619185
Cerebroretinal Microangiopathy With Calcifications And Cysts 1	Premature graying of hair, Nail dysplasia, Nail dystrophy, Anemia, Bone marrow hypocellularity, T...	OMIM:612199
Pituitary Apoplexy	Pallor, Hypertension, Hypotension	ORPHA:95613
Hermansky-Pudlak Syndrome 9	Recurrent skin infections, Thrombocytopenia, Leukopenia, Abnormal platelet aggregation	OMIM:614171
Yao Syndrome	Arthritis, Skin rash, Xerostomia, Pericarditis, Inflammatory abnormality of the skin, Keratoconju...	OMIM:617321
Spinocerebellar Ataxia 42, Early-Onset, Severe, With Neurodevelopmental Deficits	Hirsutism, Sparse hair	OMIM:618087
Seborrhea-Like Dermatitis With Psoriasiform Elements	Seborrheic dermatitis, Hyperkeratosis	OMIM:610227
Panhypophysitis	Pallor, Orthostatic hypotension	ORPHA:95513
Retinitis Pigmentosa, Deafness, Mental Retardation, And Hypogonadism	Acanthosis nigricans, Sparse hair	OMIM:268020
Bethlem Muscular Dystrophy	Hyperkeratosis, Elevated circulating creatine kinase concentration	ORPHA:610
Spinocerebellar Ataxia 34	Erythroderma, Epidermal hyperkeratosis	OMIM:133190
Non-Functioning Pituitary Adenoma	Pallor, Hypotension	ORPHA:91349
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly	Nail dysplasia, Hydrops fetalis, Ascites, Hepatic fibrosis, Sparse hair, Aplasia/Hypoplasia of th...	OMIM:614091
Premature Aging Syndrome, Penttinen Type	Hyperkeratosis, Corneal stromal edema, Thickened skin, Thin skin, Sparse hair, Palmoplantar hyper...	OMIM:601812
Wiskott-Aldrich Syndrome	Chronic otitis media, Abnormal platelet function, Sinusitis, Abnormal platelet morphology, Lympho...	ORPHA:906
Neurodevelopmental Disorder With Spasticity, Seizures, And Brain Abnormalities	Sparse hair	OMIM:620001
Tricho-Retino-Dento-Digital Syndrome	Uncombable hair, Sparse hair	ORPHA:1264
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate	Hyperconvex nail, Nail dystrophy, Absent eyelashes, Patchy alopecia, Anhidrosis, Blepharitis, Spa...	OMIM:106260
Palmoplantar Hyperkeratosis With Squamous Cell Carcinoma Of Skin And 46,Xx Sex Reversal	Hypertriglyceridemia, Nail dystrophy, Small nail, Sclerodactyly, Orthokeratotic hyperkeratosis, P...	OMIM:610644
Alternating Hemiplegia Of Childhood	Cardiomyopathy, Cardiac conduction abnormality, Arrhythmia, Pallor, Abnormal T-wave	ORPHA:2131
Revesz Syndrome	Aplastic anemia, Nail dystrophy, Macrocytic anemia, Bone marrow hypocellularity, Nail pits, Ridge...	OMIM:268130
Bainbridge-Ropers Syndrome	Polyhydramnios, Recurrent infections, Highly arched eyebrow, Hirsutism, Synophrys, Long eyelashes...	OMIM:615485
Melkersson-Rosenthal Syndrome	Cheilitis, Lymphadenopathy, Inflammatory abnormality of the skin, Periorbital edema, Edema	ORPHA:2483
Short Stature, Hearing Loss, Retinitis Pigmentosa, And Distinctive Facies	Patchy alopecia, Sparse hair	OMIM:617763
Neuroblastoma	Increased circulating lactate dehydrogenase concentration, Abnormal bleeding, Hypertension, Anemi...	ORPHA:635
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1	Nail dysplasia, Hyperkeratosis, Hypoplastic nipples, Sparse scalp hair, Sparse eyelashes, Blephar...	OMIM:129900
White Sponge Nevus 2	Edema, Hyperparakeratosis	OMIM:615785
Tubulointerstitial Nephritis And Uveitis Syndrome	Normocytic anemia, Reduced hematocrit, Macular edema, Increased circulating antibody level, Normo...	ORPHA:91500
Dyskeratosis Congenita, Autosomal Recessive 6	Bone marrow hypocellularity, Nail dystrophy, Sparse hair, Alopecia	OMIM:616353
Autosomal Recessive Cutis Laxa Type 2, Classic Type	Coarse hair, Thick hair, Abnormal circulating apolipoprotein concentration, Sparse hair	ORPHA:357074
Anemia, Sideroblastic, And Spinocerebellar Ataxia	Pallor	OMIM:301310
Muscular Dystrophy, Congenital, Davignon-Chauveau Type	Follicular hyperkeratosis	OMIM:617066
Chromosome 5P13 Duplication Syndrome	Low posterior hairline, Sparse hair	OMIM:613174
Jaberi-Elahi Syndrome	Brittle hair, Sparse eyelashes, Sparse eyebrow, Sparse hair, Fine hair	OMIM:617988
Intellectual Developmental Disorder, Autosomal Dominant 54	Thin nail, Eczematoid dermatitis, Anhidrosis, Sparse hair, Neutropenia	OMIM:617799
Frontonasal Dysplasia 2	Hypohidrosis, Sparse eyelashes, Sparse eyebrow, Sparse hair, Alopecia totalis, Fine hair, Oligohy...	OMIM:613451
Holocarboxylase Synthetase Deficiency	Hyperammonemia, Skin rash, Thrombocytopenia, Alopecia	OMIM:253270
Nicolaides-Baraitser Syndrome	Ichthyosis, Sparse scalp hair, Low posterior hairline, Eczematoid dermatitis, Long eyelashes, Abs...	OMIM:601358
Noonan Syndrome 10	Webbed neck, Hyperkeratosis, Pleural effusion, Curly hair, Increased nuchal translucency, Sparse ...	OMIM:616564
Hypotrichosis-Intellectual Disability, Lopes Type	Sparse hair	ORPHA:2266
Familial Mediterranean Fever	Pancreatitis, Lymphadenopathy, Arthritis, Skin rash, Leukocytosis, Ascites, Pericarditis, Erysipe...	ORPHA:342
Monosomy 18Q	Decreased circulating IgA level, Low anterior hairline	ORPHA:1600
Ectodermal Dysplasia 10B, Hypohidrotic/Hair/Tooth Type, Autosomal Recessive	Hypohidrosis, Sparse eyelashes, Sparse eyebrow, Anhidrosis, Sparse hair	OMIM:224900
Pachyonychia Congenita 3	Nail dystrophy, Palmoplantar keratoderma, Onychogryposis of toenails, Hyperhidrosis, Plantar hype...	OMIM:615726
Hypotrichosis 13	Sparse eyelashes, Sparse hair, Woolly hair, Abnormal sweat gland morphology	OMIM:615896
Liver Disease, Severe Congenital	Nail dystrophy, Lymphocytosis, Hypoproteinemia, Ascites, Biliary hyperplasia, Hyperammonemia, Leu...	OMIM:619991
Mandibuloacral Dysplasia With Type B Lipodystrophy	Alopecia, Hyperlipidemia, Sparse hair, Brittle hair	OMIM:608612
Kindler Epidermolysis Bullosa	Cheilitis, Anemia, Periodontitis, Hyperkeratosis, Esophagitis, Inflammation of the large intestin...	ORPHA:2908
Zygomycosis	Acute infectious pneumonia, Sinusitis, Pericarditis, Pustule, Neutropenia, Myocarditis, Splenic a...	ORPHA:73263
Chromosome 19Q13.11 Deletion Syndrome, Distal	Nail dysplasia, Recurrent infections, Sparse eyelashes, Sparse eyebrow, Sparse hair	OMIM:613026
Prolactinoma	Pallor, Hypotension	ORPHA:2965
Marshall Syndrome	Hypohidrosis, Sparse eyelashes, Sparse eyebrow, Osteoarthritis, Sparse hair	ORPHA:560
Biotinidase Deficiency	Recurrent candida infections, Skin rash, Eczematoid dermatitis, Hyperammonemia, Recurrent viral i...	ORPHA:79241
Adult Syndrome	Breast hypoplasia, Alopecia of scalp, Hypoplastic nipples, Sparse scalp hair, Absent nipple, Ecze...	OMIM:103285
Fabry Disease	Abnormal circulating lipid concentration, Anemia, Arthritis, Hyperkeratosis, Lymphedema, Hyperlip...	ORPHA:324
Juvenile Dermatomyositis	Palpebral edema, Calcinosis, Elevated circulating C-reactive protein concentration, Myositis, Art...	ORPHA:93672
Noonan Syndrome 2	Polyhydramnios, Webbed neck, Hyperkeratosis, Low posterior hairline, Increased nuchal translucenc...	OMIM:605275
Inflammatory Bowel Disease 25, Autosomal Recessive	Perianal abscess, Pancolitis, Recurrent bronchitis, Folliculitis, Enterocolitis	OMIM:612567
Pachyonychia Congenita 1	Nail dystrophy, Onychogryposis, Follicular hyperkeratosis, Palmoplantar hyperkeratosis	OMIM:167200
Scarf Syndrome	Hepatocellular adenoma, Webbed neck, Hypoplastic nipples, Low posterior hairline, Sparse hair	ORPHA:3134
Neonatal Inflammatory Skin And Bowel Disease	Slow-growing scalp hair, Chronic monilial nail infection, Recurrent bacterial skin infections, Ho...	ORPHA:294023
Encephalitis Lethargica	Recurrent viral infections, Increased circulating antibody level	ORPHA:83600
Porokeratosis 7, Multiple Types	Parakeratosis, Porokeratosis	OMIM:614714
Porokeratosis 1, Multiple Types	Parakeratosis, Porokeratosis	OMIM:175800
Granulomatosis With Polyangiitis	Chronic otitis media, Prostatitis, Pancreatitis, Elevated circulating C-reactive protein concentr...	ORPHA:900
Fucosidosis	Generalized hyperkeratosis, Abnormality of the gallbladder, Hepatomegaly, Abnormality of the nail...	ORPHA:349
Scalp-Ear-Nipple Syndrome	Nail dysplasia, Palpebral edema, Breast aplasia, Patchy alopecia, Thickened skin, Hypohidrosis, S...	OMIM:181270
Ichthyosis, Annular Epidermolytic, 2	Palmoplantar keratoderma, Ichthyosis, Orthokeratosis, Palmoplantar hyperkeratosis	OMIM:620148
Hermansky-Pudlak Syndrome	Hypopigmentation of hair, Hyperkeratosis, Long eyelashes, Thickened skin, Neutropenia	ORPHA:79430
Sabinas Brittle Hair Syndrome	Nail dysplasia, Nail dystrophy, Brittle hair, Sparse hair, Dry hair	OMIM:211390
Basel-Vanagaite-Smirin-Yosef Syndrome	Recurrent pneumonia, Sparse hair	OMIM:616449
Oculocutaneous Albinism Type 1A	Thickened skin, Hyperkeratosis, Albinism, Hypopigmentation of hair	ORPHA:79431
Dermatomyositis	Myocarditis, Myositis, Abnormal eosinophil morphology, Skin rash, Arthritis, Abnormal hair quanti...	ORPHA:221
Down Syndrome	Leukemia, Abnormality of the lymphatic system, Blepharitis, Polycythemia, Neutrophilia, Thrombocy...	ORPHA:870
Aicardi-Goutières Syndrome	Panniculitis, Chronic lymphatic leukemia, Increased circulating interferon-gamma concentration, A...	ORPHA:51
Autosomal Recessive Malignant Osteopetrosis	Hepatomegaly, Pulmonary arterial hypertension, Splenomegaly, Bruising susceptibility, Pallor	ORPHA:667
Lmna-Related Cardiocutaneous Progeria Syndrome	Premature graying of hair, Hypertriglyceridemia, Absent eyelashes, Absent eyebrow, Sparse hair, A...	ORPHA:363618
Trichorhinophalangeal Syndrome Type 1	Leukonychia, Sparse eyelashes, Sparse eyebrow, Fragile nails, Sparse hair	ORPHA:77258
Noonan Syndrome-Like Disorder With Loose Anagen Hair 2	High anterior hairline, Polyhydramnios, Webbed neck, Highly arched eyebrow, Slow-growing hair, Lo...	OMIM:617506
Leprechaunism	Enlarged kidney, Hepatomegaly, Acanthosis nigricans, Hypokalemia, Hyperkeratosis, Thickened skin,...	ORPHA:508
Pemphigus Foliaceus	Pustule, Erythroderma, Acantholysis, Psoriasiform dermatitis, Crusting erythematous dermatitis, P...	ORPHA:79481
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 3	Nail dystrophy, Facial hirsutism, Hyperkeratosis, Hypoplastic nipples, Sparse scalp hair, Sparse ...	OMIM:604292
Ectodermal Dysplasia 11A, Hypohidrotic/Hair/Tooth Type, Autosomal Dominant	Absent hair, Brittle hair, Absent nipple, Hypohidrosis, Anhidrosis, Sparse hair	OMIM:614940
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome	Hypertriglyceridemia, Decreased circulating total IgM, Decreased circulating IgA level, Hypercalc...	ORPHA:369837
Arthrogryposis And Ectodermal Dysplasia	Nail dysplasia, Trichiasis, Hyperkeratosis, Absent eyebrow, Hypohidrosis, Trichodysplasia	OMIM:601701
Cerebrooculofacioskeletal Syndrome 2	Sparse hair	OMIM:610756
Intellectual Developmental Disorder, X-Linked, Syndromic 33	Chronic otitis media, Toenail dysplasia, Hirsutism, Synophrys, Eczematoid dermatitis, Sparse hair	OMIM:300966
Tooth Agenesis, Selective, 4	Dystrophic fingernails, Dystrophic toenail, Sparse scalp hair, Hypohidrosis, Thin skin, Sparse bo...	OMIM:150400
Garg-Mishra Progeroid Syndrome	Microvesicular hepatic steatosis, Sparse hair, Small nail	OMIM:620601
Hamamy Syndrome	Abnormal number of hair whorls, Low posterior hairline, Sparse eyelashes, Sparse lateral eyebrow,...	OMIM:611174
Auriculocondylar Syndrome 2B	Sparse hair, Synophrys	OMIM:620458
Borjeson-Forssman-Lehmann Syndrome	Thick eyebrow, Sparse hair	ORPHA:127
Kaufman Oculocerebrofacial Syndrome	Recurrent infections, Thin skin, Sparse eyebrow, Sparse hair, Hypocholesterolemia	OMIM:244450
Multiple Endocrine Neoplasia Type 2	Hypertension associated with pheochromocytoma, Hypertensive crisis, Pallor, Palpitations, Neoplas...	ORPHA:653
Phosphoribosylpyrophosphate Synthetase Superactivity	Recurrent infections, Hyperuricemia, Sparse hair, Gout	OMIM:300661
Oculodentodigital Dysplasia	Brittle hair, Slow-growing hair, Abnormality of the nail, Curly hair, Abnormal fingernail morphol...	ORPHA:2710
Tyrosinemia Type 2	Palmoplantar keratoderma, Hyperkeratosis, Hyperhidrosis, Abnormality of the nail	ORPHA:28378
Cranioectodermal Dysplasia 1	Hepatomegaly, Thin nail, Slow-growing hair, Hypocalcemia, Hepatic fibrosis, Short nail, Sparse ha...	OMIM:218330
Hyperpigmentation With Or Without Hypopigmentation, Familial Progressive	Hyperkeratosis	OMIM:145250
Autosomal Dominant Palmoplantar Keratoderma And Congenital Alopecia	Absent hair, Nail dystrophy, Trichorrhexis nodosa, Ridged nail, Abnormality of the nail, Sparse s...	ORPHA:1010
Xeroderma Pigmentosum	Hyperkeratosis, Thickened skin, Blepharitis, Thin skin, Keratitis, Alopecia	ORPHA:910
ERI1-related disease	Anonychia, Low anterior hairline, Sparse hair	OMIM:608739
Tetramelic Deficiencies, Ectodermal Dysplasia, Deformed Ears, And Other Abnormalities	Hypoplastic nipples, Sparse hair, Small nail	OMIM:273400
Epidermolysis Bullosa Simplex With Circinate Migratory Erythema	Parakeratosis, Pruritus	ORPHA:158681
Calcific Aortic Disease With Immunologic Abnormalities, Familial	Increased circulating antibody level	OMIM:114065
Chromosome Xq27.3-Q28 Duplication Syndrome	Sparse body hair	OMIM:300869
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate Syndrome	Dystrophic fingernails, Hyperconvex fingernails, Dystrophic toenail, Sparse eyelashes, Hypohidros...	ORPHA:1071
Hallermann-Streiff Syndrome	Abnormality of hair texture, Uveitis, Sparse eyelashes, Sparse body hair, Sparse eyebrow, Sparse ...	ORPHA:2108
Hallermann-Streiff Syndrome	Sparse scalp hair, Sparse eyelashes, Sparse eyebrow, Recurrent pneumonia, Sparse hair, Recurrent ...	OMIM:234100
Palmoplantar Keratoderma, Punctate Type Ia	Punctate palmoplantar hyperkeratosis, Hypergranulosis, Orthokeratosis	OMIM:148600
Sapho Syndrome	Arthritis, Skin rash, Synovitis, Palmoplantar pustulosis, Pustule, Inflammation of the large inte...	ORPHA:793
Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Impaired Intellectual Development, And Ear Anomalies Syndrome	Ichthyosis, Hepatomegaly, Webbed neck, Highly arched eyebrow, Hypoplastic nipples, Sparse lateral...	OMIM:280000
Tsh-Secreting Pituitary Adenoma	Congestive heart failure, Supraventricular arrhythmia, Hypertension, Hypotension, Ventricular arr...	ORPHA:91347
Chime Syndrome	Acute leukemia, Ichthyosis, Hyperkeratosis, Sparse hair, Fine hair	ORPHA:3474
Atypical Werner Syndrome	Premature graying of hair, Hypertriglyceridemia, Abnormal hair morphology, Abnormal hair quantity...	ORPHA:79474
Cysticercosis	Infectious encephalitis, Increased anti-parasite IgE antibody level, Increased circulating antibo...	ORPHA:1560
White-Sutton Syndrome	Recurrent infections, Sparse hair	OMIM:616364
Glass Syndrome	Nail dysplasia, Thin skin, Sparse hair, Long eyelashes	OMIM:612313
Fanconi Anemia, Complementation Group E	Bruising susceptibility, Anemic pallor	OMIM:600901
Degcags Syndrome	Hepatomegaly, Cholestasis, Abnormal spleen morphology, Pulmonary arterial hypertension, Pulmonic ...	OMIM:619488
Koolen-De Vries Syndrome Due To A Point Mutation	Recurrent otitis media, Ichthyosis, Recurrent urinary tract infections, Hyperkeratosis, Eczematoi...	ORPHA:363965
17Q21.31 Microdeletion Syndrome	Recurrent otitis media, Ichthyosis, Recurrent urinary tract infections, Hyperkeratosis, Eczematoi...	ORPHA:363958
Blau Syndrome	Ichthyosis, Anemia, Lymphadenopathy, Xerostomia, Skin rash, Posterior uveitis, Synovitis, Pericar...	ORPHA:90340
Igg4-Related Thyroid Disease	Sclerosing cholangitis, Hypocalcemia, Thyroiditis, Hashimoto thyroiditis, Increased circulating I...	ORPHA:64744
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 2	Elevated circulating creatine kinase concentration, Increased circulating antibody level, Elevate...	OMIM:606002
Severe Generalized Junctional Epidermolysis Bullosa	Gastrointestinal inflammation, Abnormal blood ion concentration, Sepsis, Nail dystrophy, Pyoderma...	ORPHA:79404
Cutis Laxa, Autosomal Recessive, Type Iiib	Thin skin, Fine hair, Sparse hair	OMIM:614438
Menkes Disease	Sepsis, Hypopigmentation of hair, Woolly hair, Thickened skin, Prolonged neonatal jaundice, Spars...	ORPHA:565
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type	Hyperkeratosis	ORPHA:163966
Intellectual Developmental Disorder, Autosomal Dominant 66	Sparse hair	OMIM:619910
Ruijs-Aalfs Syndrome	Premature graying of hair, Hepatocellular carcinoma, Sparse hair	OMIM:616200
Stuve-Wiedemann Syndrome 1	Recurrent infections, Thin skin, Hyperhidrosis, Sparse hair, Oligohydramnios	OMIM:601559
Fanconi Anemia, Complementation Group A	Bruising susceptibility, Anemic pallor	OMIM:227650
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome	Nail dystrophy, Polyhydramnios, Small nail, Hypoplastic nipples, Absent nipple, Unconjugated hype...	OMIM:620186
Scarf Syndrome	Webbed neck, Hypoplastic nipples, Low posterior hairline, Low anterior hairline, Sparse hair	OMIM:312830
Aapoaiv Amyloidosis	Elevated circulating creatinine concentration, Hyperlipidemia, Paraproteinemia	ORPHA:439232
Mandibuloacral Dysplasia Progeroid Syndrome	Hypertriglyceridemia, Nail dystrophy, Hepatomegaly, Macrovesicular hepatic steatosis, Left ventri...	OMIM:619127
Congenital Disorder Of Glycosylation, Type Iia	Hirsutism, Thick eyebrow, Sparse hair, Long eyelashes	OMIM:212066
Chikungunya	Cervical lymphadenopathy, Lymphadenopathy, Pedal edema, Arthritis, Skin rash, Synovitis, Enthesit...	ORPHA:324625
Sarcoidosis	Increased T cell count, Leukopenia, Erythema nodosum, Portal hypertension, Keratoconjunctivitis s...	ORPHA:797
Rodrigues Blindness	Fine hair, Sparse hair	OMIM:268320
Viss Syndrome	Polyhydramnios, Increased circulating IgG level, Chronic gastritis, Increased circulating IgE lev...	OMIM:619472
Short Syndrome	Sparse hair, Alopecia	ORPHA:3163
Tylosis With Esophageal Cancer	Parakeratosis, Follicular hyperkeratosis, Diffuse palmoplantar hyperkeratosis	OMIM:148500
Rothmund-Thomson Syndrome, Type 2	Premature graying of hair, Nail dystrophy, Annular pancreas, Absent eyelashes, Sparse scalp hair,...	OMIM:268400
Marshall-Smith Syndrome	Brittle hair, Highly arched eyebrow, Aspiration pneumonia, Synophrys, Thick eyebrow, Recurrent as...	OMIM:602535
Gapo Syndrome	Nail dysplasia, Breast hypoplasia, Hepatomegaly, Hypoplastic nipples, Sparse eyelashes, Sparse ey...	OMIM:230740
Male Hypergonadotropic Hypogonadism-Intellectual Disability-Skeletal Anomalies Syndrome	Sparse body hair	ORPHA:2234
Simpson-Golabi-Behmel Syndrome	Nail dysplasia, Polyhydramnios, Hepatomegaly, Webbed neck, Small nail, Increased circulating IgE ...	ORPHA:373
Lipodystrophy, Familial Partial, Type 7	Hypertriglyceridemia, Acanthosis nigricans, Pleural effusion, Sparse scalp hair, Thin skin, Spars...	OMIM:606721
Punctate Palmoplantar Keratoderma Type 1	Nail dystrophy, Pancreatic adenocarcinoma, Hyperkeratotic papule, Palmoplantar hyperkeratosis, Pa...	ORPHA:79501
Oculodentodigital Dysplasia, Autosomal Recessive	Sparse eyelashes, Fine hair, Sparse hair	OMIM:257850
Scalp-Ear-Nipple Syndrome	Palpebral edema, Breast aplasia, Recurrent urinary tract infections, Hypohidrosis, Abnormal finge...	ORPHA:2036
Oculodentodigital Dysplasia	Slow-growing hair, Fragile nails, Sparse hair, Fine hair, Dry hair, Uveitis	OMIM:164200
Satb2-Associated Syndrome Due To A Chromosomal Rearrangement	Fine hair, Sparse hair	ORPHA:251028
Fanconi Anemia, Complementation Group C	Bruising susceptibility, Anemic pallor	OMIM:227645
Leptospirosis	Jaundice, Hepatomegaly, Lymphadenopathy, Optic neuritis, Skin rash, Meningitis, Pleural effusion,...	ORPHA:509
Plague	Carbuncle, Sepsis, Hepatomegaly, Inflammatory abnormality of the eye, Acute infectious pneumonia,...	ORPHA:707
Fanconi Anemia, Complementation Group D2	Bruising susceptibility, Anemic pallor, Annular pancreas	OMIM:227646
Diamond-Blackfan Anemia 1	Congestive heart failure, Pallor, Elevated red cell adenosine deaminase activity, Tricuspid stenosis	OMIM:105650
De Barsy Syndrome	Thin skin, Recurrent sinopulmonary infections, Sparse hair	ORPHA:2962
Microcephalic Osteodysplastic Primordial Dwarfism, Type I	Stillbirth, Hyperbilirubinemia, Hyperkeratosis, Sparse scalp hair, Sparse eyelashes, Prolonged ne...	OMIM:210710
Retinitis Pigmentosa With Or Without Skeletal Anomalies	High anterior hairline, Small nail, Sparse eyelashes, Sparse eyebrow, Sparse hair	OMIM:250410
Weaver Syndrome	Deep-set nails, Fine hair, Thin nail, Sparse hair	OMIM:277590
Alacrima, Achalasia, And Impaired Intellectual Development Syndrome	Hypohidrosis, Hyperkeratosis, High anterior hairline	OMIM:615510
Nablus Mask-Like Facial Syndrome	Highly arched eyebrow, Absent eyelashes, Hypoplastic nipples, Sparse eyelashes, Sparse eyebrow, L...	OMIM:608156
Esophageal Atresia	Pallor	ORPHA:1199
Cockayne Syndrome B	Hepatomegaly, Abnormal hair morphology, Anhidrosis, Splenomegaly, Sparse hair, Dry hair	OMIM:133540
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum	Gastrointestinal inflammation, Trichiasis, Sepsis, Nail dystrophy, Anemia, Xerostomia, Skin rash,...	ORPHA:95455
Hawkinsinuria	Sparse hair, Hypertyrosinemia	OMIM:140350
Cockayne Syndrome A	Hepatomegaly, Thymic hormone decreased, Anhidrosis, Splenomegaly, Sparse hair, Dry hair	OMIM:216400
Familial Benign Chronic Pemphigus	Hyperkeratosis, Acantholysis	ORPHA:2841
Peripartum Cardiomyopathy	Increased circulating interferon-gamma concentration	ORPHA:563
Osteogenesis Imperfecta, Type Xx	Highly arched eyebrow, Sparse lateral eyebrow, Sparse hair	OMIM:618644
Hypotrichosis 14	Sparse body hair, Short eyelashes, Sparse pubic hair, Sparse hair, Absent axillary hair	OMIM:618275
Intellectual Disability-Myopathy-Short Stature-Endocrine Defect Syndrome	Sparse body hair	ORPHA:3068
Orofaciodigital Syndrome Type 1	Chronic otitis media, Brittle hair, Exocrine pancreatic insufficiency, Sparse hair, Pancreatic cy...	ORPHA:2750
Hypercarotenemia And Vitamin A Deficiency, Autosomal Recessive	Follicular hyperkeratosis	OMIM:277350
Diamond-Blackfan Anemia	Pallor, Elevated red cell adenosine deaminase activity	ORPHA:124
Chilton-Okur-Chung Neurodevelopmental Syndrome	Polyhydramnios, Recurrent otitis media, Highly arched eyebrow, Recurrent urinary tract infections...	OMIM:619841
Malakoplakia	Skin rash, Inflammatory abnormality of the skin, Orchitis, Urinary bladder inflammation, Follicul...	ORPHA:556
Chondrodysplasia Punctata, Autosomal Dominant	Coarse hair, Hyperkeratosis with erythema, Sparse hair	OMIM:118650
Wiedemann-Rautenstrauch Syndrome	Hypertriglyceridemia, Recurrent otitis media, Acanthosis nigricans, Recurrent urinary tract infec...	ORPHA:3455
Cranioectodermal Dysplasia 3	Cirrhosis, Broad nail, Short nail, Sparse hair, Fine hair	OMIM:614099
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 2	Sparse hair	OMIM:615349
Opitz-Kaveggia Syndrome	Frontal upsweep of hair, Fine hair, Sparse hair	OMIM:305450
Goldberg-Shprintzen Syndrome	Highly arched eyebrow, Thick eyebrow, Sparse hair, Synophrys	OMIM:609460
Teebi-Shaltout Syndrome	Highly arched eyebrow, Slow-growing hair, Low anterior hairline, Sparse hair	OMIM:272950
Costello Syndrome	Polyhydramnios, Acanthosis nigricans, Thin nail, Webbed neck, Lymphangiectasis, Curly hair, Deep-...	OMIM:218040
Craniolenticulosutural Dysplasia	Coarse hair, Sparse hair, Brittle hair	ORPHA:50814
Short Stature, Onychodysplasia, Facial Dysmorphism, And Hypotrichosis	Nail dysplasia, Breast hypoplasia, Sparse hair, Small nail	OMIM:614813
Short Stature, Brachydactyly, Impaired Intellectual Development, And Seizures	Polyhydramnios, Recurrent urinary tract infections, Eczematoid dermatitis, Frontal hirsutism, Spa...	OMIM:617157
Mosaic Variegated Aneuploidy Syndrome 2	Sparse hair	OMIM:614114
Ablepharon Macrostomia Syndrome	Breast hypoplasia, Absent eyelashes, Absent eyebrow, Thin skin, Abnormal hair pattern, Sparse hai...	ORPHA:920
Orofaciodigital Syndrome I	Sparse hair, Hepatic cysts, Hepatic fibrosis, Pancreatic cysts, Dry hair, Alopecia	OMIM:311200
Cerebellar-Facial-Dental Syndrome	Fine hair, Sparse eyebrow, Sparse hair	ORPHA:444072
Microcephaly, Developmental Delay, And Brittle Hair Syndrome	Fine hair, Sparse hair, Brittle hair	OMIM:618891
Trichorhinophalangeal Syndrome, Type Ii	Alopecia of scalp, Recurrent otitis media, Chronic gastritis, Sparse scalp hair, Hypohidrosis, Fr...	OMIM:150230
Ramon Syndrome	Hyperkeratosis, Juvenile rheumatoid arthritis, Hypertrichosis	OMIM:266270
Singleton-Merten Syndrome 2	Hyperkeratosis	OMIM:616298
Myhre Syndrome	Thickened skin, Pericardial effusion, Thick eyebrow, Sparse hair, Fine hair	OMIM:139210
Craniolenticulosutural Dysplasia	Coarse hair, Sparse hair, Brittle hair	OMIM:607812
Restrictive Dermopathy 1	Stillbirth, Polyhydramnios, Absent eyelashes, Sparse eyelashes, Thin skin, Short nail, Neonatal d...	OMIM:275210
Restrictive Dermopathy	Polyhydramnios, Generalized hyperkeratosis, Sparse or absent eyelashes, Webbed neck, Aplasia/Hypo...	ORPHA:1662
De Sanctis-Cacchione Syndrome	Parakeratosis, Keratitis, Conjunctivitis	OMIM:278800
Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome	Breast hypoplasia, Alopecia of scalp, Abnormal eyebrow morphology, Sparse eyebrow, Sparse pubic h...	ORPHA:2232
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 1	Thin skin, Recurrent pneumonia, Follicular hyperkeratosis	OMIM:225400
Intellectual Developmental Disorder, Autosomal Dominant 68	Recurrent infections, Hepatic steatosis, Sparse hair	OMIM:619934
Oligodontia-Colorectal Cancer Syndrome	Sparse scalp hair, Absent eyebrow, Sparse body hair, Short eyelashes, Sparse axillary hair	OMIM:608615
Alpha-N-Acetylgalactosaminidase Deficiency Type 2	Cardiomegaly, Hyperkeratosis, Lymphedema	ORPHA:79280
Roberts Syndrome	Polyhydramnios, Thrombocytopenia, Sparse hair	ORPHA:3103
Proteus Syndrome	Enlarged kidney, Generalized hyperkeratosis, Recurrent infections, Abnormality of the nail, Lymph...	ORPHA:744
Congenital Total Pulmonary Venous Return Anomaly	Hepatomegaly, Low-output congestive heart failure, Pulmonary arterial hypertension, Tricuspid reg...	ORPHA:99125
Lenz-Majewski Hyperostotic Dwarfism	Thin skin, Sparse hair	OMIM:151050
Goodpasture Syndrome	Pallor, Pulmonary hemorrhage	OMIM:233450
Hemihyperplasia-Multiple Lipomatosis Syndrome	Seborrheic dermatitis, Enlarged kidney, Hyperparakeratosis, Abnormality of the lymphatic system	ORPHA:276280
Mosaic Variegated Aneuploidy Syndrome 7 With Inflammation And Tumor Predisposition	Hyperkeratosis, Pilomatrixoma	OMIM:620189
Woodhouse-Sakati Syndrome	Fine hair, Hyperlipidemia, Sparse hair, Alopecia	OMIM:241080
Familial Keratoacanthoma	Hyperkeratosis	ORPHA:493
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3	Pallor	OMIM:253280
6Q Terminal Deletion Syndrome	Highly arched eyebrow, Hyperkeratosis, Low anterior hairline	ORPHA:75857
Kyphoscoliotic Ehlers-Danlos Syndrome	Thin skin, Synophrys, Follicular hyperkeratosis	ORPHA:536545
Normosmic Congenital Hypogonadotropic Hypogonadism	Breast hypoplasia, Sparse body hair	ORPHA:432
Global Developmental Delay-Osteopenia-Ectodermal Defect Syndrome	Abnormality of hair texture, Epidermal thickening, Synophrys, Thickened skin, Orthokeratotic hype...	ORPHA:73223
Kanzaki Disease	Hyperkeratosis, Lymphedema	OMIM:609242
Warburg-Cinotti Syndrome	Joint swelling, Thin skin, Follicular hyperkeratosis, Sterile abscess	OMIM:618175
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 2	Polyhydramnios, Follicular hyperkeratosis	OMIM:614557
Focal Dermal Hypoplasia	Nail dysplasia, Nail dystrophy, Ridged nail, Brittle hair, Hypoplastic nipples, Patchy alopecia, ...	OMIM:305600
Ablepharon-Macrostomia Syndrome	Hypoplastic fingernail, Absent eyelashes, Hypoplastic nipples, Absent eyebrow, Thin skin, Sparse ...	OMIM:200110
Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii	Thin eyebrow, Loss of eyelashes, Sparse hair, Alopecia	ORPHA:2636
Wrinkly Skin Syndrome	Recurrent sinopulmonary infections, Sparse hair, High nonceruloplasmin-bound serum copper	ORPHA:2834
Herpes Simplex Virus Encephalitis	Elevated circulating C-reactive protein concentration, Leukocytosis, Hyponatremia, Neutrophilia, ...	ORPHA:1930
Renpenning Syndrome 1	Sparse lateral eyebrow, Sparse hair, Brittle hair	OMIM:309500
Cowden Syndrome	Palmoplantar keratoderma, Generalized hyperkeratosis, Enlarged polycystic ovaries	ORPHA:201
46,Xy Difference Of Sex Development Due To Isolated 17,20-Lyase Deficiency	Sparse body hair, Sparse pubic hair, Enlarged polycystic ovaries, Sparse axillary hair	ORPHA:90796
Pallister-Killian Syndrome	Stillbirth, Polyhydramnios, Webbed neck, Sparse anterior scalp hair, Sparse scalp hair, Anhidrosi...	OMIM:601803
Neurocardiofaciodigital Syndrome	Sparse eyebrow, Sparse hair	OMIM:619869
Roberts-Sc Phocomelia Syndrome	Stillbirth, Polyhydramnios, Accessory spleen, Biliary tract abnormality, Sparse hair	OMIM:268300
Menke-Hennekam Syndrome 1	Thick eyebrow, Long eyelashes, Sparse hair, Recurrent upper respiratory tract infections	OMIM:618332
Branchiooculofacial Syndrome	Premature graying of hair, Hypoplastic fingernail, Duplication of internal organs, Low posterior ...	OMIM:113620
Primrose Syndrome	Dystrophic fingernails, Sparse scalp hair, Synophrys, Sparse body hair, Elevated circulating alph...	OMIM:259050
Seizures, Scoliosis, And Macrocephaly/Microcephaly Syndrome	Nail dysplasia, Sparse hair	OMIM:616682
Wrinkly Skin Syndrome	Short nail, Sparse hair, Fragile nails	OMIM:278250
Encephalopathy, Acute, Infection-Induced (Herpes-Specific), Susceptibility To, 8	Herpes simplex encephalitis	OMIM:617900
Amyotrophic Lateral Sclerosis	Xerostomia	ORPHA:803
Frontotemporal Dementia With Motor Neuron Disease		ORPHA:275872
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 4		OMIM:616439

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 Tbk1

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 Tbk1.

No publications found that use IMPC mice or data for Tbk1.

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
Tbk1^{em1(IMPC)Ccpcz}	Exon Deletion	Mice
Tbk1^{tm1e(KOMP)Wtsi}	Targeted, non-conditional allele	ES Cells
Tbk1^{tm213168(L1L2_Bact_P)}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors

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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