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 (1166 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, Neutrophilia, Leukocytosis, Hyponatremia, ...	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	Alopecia, Erythroderma, Recurrent viral infections, Increased circulating antibody level, Increas...	ORPHA:169154
Immunodeficiency 64	Decreased lymphocyte proliferation in response to mitogen, Decreased circulating IgG level, Incre...	OMIM:618534
Proteasome-Associated Autoinflammatory Syndrome 2	Increased circulating IgA level, Elevated circulating C-reactive protein concentration, Skin rash...	OMIM:618048
Ras-Associated Autoimmune Leukoproliferative Disorder	Increased circulating antibody level, Hepatomegaly, Lymphocytosis, Splenomegaly, Monocytosis, Aut...	OMIM:614470
Thrombocytopenia, Cyclic	Cyclic neutropenia, Thrombocytopenia, Neutropenia	OMIM:188020
Immunodeficiency 14B, Autosomal Recessive	Decreased circulating IgA level, Colitis, Decreased circulating IgG level, Neutrophilia, Leukocyt...	OMIM:619281
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome	Pallor, Hepatomegaly, Splenomegaly	ORPHA:46532
Retinitis Pigmentosa 42	Pallor	OMIM:612943
Retinitis Pigmentosa 81	Pallor	OMIM:617871
Immunodeficiency 25	Recurrent candida infections, Increased circulating IgA level, Recurrent herpes, Eosinophilia, In...	OMIM:610163
Diamond-Blackfan Anemia 18	Steroid-responsive anemia, Neutropenia, Erythroid hypoplasia	OMIM:618310
Immunodeficiency With Hyper-Igm, Type 1	Hepatomegaly, Impaired memory B cell generation, Sepsis, Absence of lymph node germinal center, D...	OMIM:308230
Sting-Associated Vasculopathy, Infantile-Onset	Lymphopenia, Increased circulating IgA level, Elevated circulating C-reactive protein concentrati...	OMIM:615934
Cyclic Neutropenia	Cyclic neutropenia, Neutropenia	OMIM:162800
Immunodeficiency 89 And Autoimmunity	Crohn's disease, Reduced circulating interleukin 27 concentration, Increased circulating IgA leve...	OMIM:619632
Adult Idiopathic Neutropenia	Recurrent fungal infections, Lymphopenia, Recurrent bacterial infections, Monocytosis, Helicobact...	ORPHA:2688
Autoimmune Lymphoproliferative Syndrome	Neutropenia in presence of anti-neutropil antibodies, Increased circulating IgA level, Coombs-pos...	OMIM:601859
Immunodeficiency 102	Hepatomegaly, Partial absence of specific antibody response to unconjugated pneumococcus vaccine,...	OMIM:301082
Neutropenia, Severe Congenital, 1, Autosomal Dominant	Increased circulating antibody level, Acute monocytic leukemia, Eosinophilia, Monocytosis, Congen...	OMIM:202700
Autoimmune Lymphoproliferative Syndrome, Type Iia	Hepatomegaly, Lymphadenopathy, Splenomegaly, Follicular hyperplasia, Increased circulating IgG le...	OMIM:603909
Neutropenia, Severe Congenital, 7, Autosomal Recessive	Neutropenia	OMIM:617014
Caspase 8 Deficiency	Decreased circulating IgA level, Decreased circulating IgG level, Reduced CD95-induced lymphocyte...	OMIM:607271
Pgm3-Cdg	Abnormal proportion of CD8-positive T cells, Eczema, Sepsis, Chronic sinusitis, Bone marrow hypoc...	ORPHA:443811
Immunodeficiency 91 And Hyperinflammation	Hepatomegaly, Neutrophilia, Hemophagocytosis, Elevated circulating C-reactive protein concentrati...	OMIM:619644
Hyper-Ige Recurrent Infection Syndrome 5, Autosomal Recessive	Increased circulating interleukin 6 concentration, Decreased circulating IgG level, Recurrent ski...	OMIM:618944
Histiocytosis, Familial Lipochrome	Histiocytosis, Increased circulating antibody level, Increased alpha-globulin, Recurrent infections	OMIM:235900
Immunodeficiency 51	Chronic furunculosis, Chronic oral candidiasis, Folliculitis, Recurrent cutaneous fungal infectio...	OMIM:613953
Severe Combined Immunodeficiency, X-Linked	Decreased circulating IgA level, Recurrent fungal infections, Decreased circulating IgG level, He...	OMIM:300400
Immunodeficiency 97 With Autoinflammation	Increased circulating ferritin concentration, Hemophagocytosis, Eczema, Decreased proportion of C...	OMIM:619802
Immunodeficiency, Common Variable, 1	Decreased circulating IgA level, Neutropenia in presence of anti-neutropil antibodies, Decreased ...	OMIM:607594
Autoinflammation With Arthritis And Dyskeratosis	Increased circulating IgA level, Hepatomegaly, Elevated circulating C-reactive protein concentrat...	OMIM:617388
Chronic Myeloid Leukemia	Leukocytosis, Splenomegaly, Myeloproliferative disorder, Abnormal granulocyte morphology, Thrombo...	ORPHA:521
Immunodeficiency 105	Decreased circulating IgA level, Lymphopenia, Decreased circulating IgG level, Skin rash, Hepatos...	OMIM:619924
Immunodeficiency 50	Eczema, Lymphopenia, Neutropenia	OMIM:300988
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency	Hepatomegaly, Sepsis, Recurrent opportunistic infections, Pneumonia, Recurrent Haemophilus influe...	ORPHA:276
Autoinflammation, Panniculitis, And Dermatosis Syndrome	Joint swelling, Increased circulating IgA level, Neutrophilia, Leukocytosis, Elevated circulating...	OMIM:617099
Retinohepatoendocrinologic Syndrome	Pallor, Degenerative liver disease	OMIM:268040
Autoimmune Lymphoproliferative Syndrome, Type Iii	Hepatomegaly, Absent isohemagglutinin level, Elevated circulating C-reactive protein concentratio...	OMIM:615559
Agammaglobulinemia 2, Autosomal Recessive	Decreased circulating IgA level, Decreased circulating total IgM, Recurrent bacterial infections,...	OMIM:613500
X-Linked Lymphoproliferative Disease	Increased circulating ferritin concentration, Hemophagocytosis, Cervical lymphadenopathy, Aplasti...	ORPHA:2442
Retinitis Pigmentosa 60	Pallor	OMIM:613983
Immunodeficiency 14A, Autosomal Dominant	Recurrent sinopulmonary infections, Splenomegaly, Decreased specific pneumococcal antibody level,...	OMIM:615513
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta	Recurrent candida infections, Increased circulating antibody level, Decreased lymphocyte prolifer...	ORPHA:169160
Trichothiodystrophy 3, Photosensitive	Congenital nonbullous ichthyosiform erythroderma, Increased circulating IgA level, Lymphopenia, B...	OMIM:616395
Agammaglobulinemia 4, Autosomal Recessive	Decreased circulating IgA level, Recurrent otitis media, Decreased circulating IgG level, Decreas...	OMIM:613502
Agammaglobulinemia 6, Autosomal Recessive	Decreased circulating IgA level, Decreased circulating IgG level, Decreased circulating total IgM...	OMIM:612692
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity	Eczema, B lymphocytopenia, Erythroderma, Recurrent viral infections, Decreased proportion of CD4+...	OMIM:606367
Autoimmune Lymphoproliferative Syndrome	Abnormal proportion of CD8-positive T cells, Hepatomegaly, Gastritis, Uveitis, Bone marrow hypoce...	ORPHA:3261
Lymphoproliferative Syndrome, X-Linked, 2	Increased circulating ferritin concentration, Colitis, Hepatomegaly, Folliculitis, Hemophagocytos...	OMIM:300635
Neutropenia, Lethal Congenital, With Eosinophilia	Eosinophilia, Neutropenia	OMIM:257100
Immunodeficiency, Common Variable, 3	Decreased circulating IgA level, Reduced isohemagglutinin level, Decreased circulating total IgM,...	OMIM:613493
Immunodeficiency, Common Variable, 2	Decreased circulating IgA level, Decreased circulating IgG level, Hepatomegaly, Splenomegaly, Par...	OMIM:240500
Immunodeficiency 11B With Atopic Dermatitis	Eosinophilia, Atopic dermatitis, Pneumonia	OMIM:617638
Immunodeficiency 33	Increased circulating IgA level, Recurrent bacterial infections, Decreased circulating total IgM,...	OMIM:300636
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency	Lack of T cell function, Sinusitis, Inflammatory abnormality of the skin, Lymphopenia, Recurrent ...	ORPHA:277
Thrombocytopenia With Elevated Serum Iga And Renal Disease	Glomerulonephritis, Thrombocytopenia, Increased circulating IgA level	OMIM:314000
Neutropenia, Severe Congenital, 2, Autosomal Dominant	Monocytosis, B lymphocytopenia, Neutropenia	OMIM:613107
Immunodeficiency 72 With Autoinflammation	Herpes simplex encephalitis, Hepatosplenomegaly, Increased circulating IgG level, Increased B cel...	OMIM:618982
Immunodeficiency With Hyper-Igm, Type 3	Decreased circulating IgA level, Decreased circulating IgG level, Impaired memory B cell generati...	OMIM:606843
Neutropenia, Severe Congenital, 6, Autosomal Recessive	Neutropenia, Recurrent otitis media	OMIM:616022
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia	Decreased specific anti-polysaccharide antibody level, Splenomegaly, Persistent CMV viremia, Auto...	OMIM:300853
Ectodermal Dysplasia And Immunodeficiency 1	Increased circulating IgA level, Sparse hair, Abnormal circulating IgG level, Aplasia of the eccr...	OMIM:300291
Agammaglobulinemia 8B, Autosomal Recessive	Decreased circulating IgA level, Decreased circulating IgG level, Decreased proportion of CD8-pos...	OMIM:619824
Immunodeficiency 103, Susceptibility To Fungal Infections	Onychomycosis, Abnormal proportion of CD8-positive T cells, Chronic oral candidiasis, Deep dermat...	OMIM:212050
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation	Crohn's disease, Decreased circulating IgA level, Lymphopenia, Decreased circulating IgG level, H...	OMIM:616100
Immunodeficiency 48	Recurrent candida infections, Eczematoid dermatitis, Hepatomegaly, Splenomegaly, Panhypogammaglob...	OMIM:269840
Macrophage Activation Syndrome	Abnormality of tumor necrosis factor secretion, Increased circulating interleukin 6 concentration...	ORPHA:158061
Familial Hemophagocytic Lymphohistiocytosis	Increased circulating ferritin concentration, Hepatomegaly, Hemophagocytosis, Maculopapular exant...	ORPHA:540
Neutropenia, Nonimmune Chronic Idiopathic, Of Adults	Acute myeloid leukemia, Neutropenia	OMIM:607847
Chilblain Lupus	Increased circulating antibody level, Discoid lupus rash, Inflammatory abnormality of the skin, P...	ORPHA:90280
Immunodeficiency With Hyper-Igm, Type 5	Decreased circulating IgA level, Recurrent upper and lower respiratory tract infections, Decrease...	OMIM:608106
Kerion Celsi	Inflammatory abnormality of the skin, Alopecia, Recurrent skin infections, Lymphadenopathy, Recur...	ORPHA:499
Acute Peripheral Arterial Occlusion	Supraventricular tachycardia, Absent ankle pulse, Pallor, Myocardial infarction, Abnormality of v...	ORPHA:90064
Immunodeficiency 78 With Autoimmunity And Developmental Delay	Recurrent otitis media, Neutropenia in presence of anti-neutropil antibodies, Recurrent oral herp...	OMIM:619220
Iga Pemphigus	Increased circulating IgA level, Pustule, Eosinophilia, Monoclonal elevation of circulating IgA, ...	ORPHA:555905
Hyper-Igd Syndrome	Increased circulating IgA level, Neutrophilia, Leukocytosis, Splenomegaly, Chronic oral candidias...	OMIM:260920
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia	Lymphadenitis, Sepsis, B lymphocytopenia, Pancytopenia, Monocytopenia, Severe varicella zoster in...	OMIM:618986
Autosomal Dominant Severe Congenital Neutropenia	Periodontitis, Lymphopenia, Rhinitis, Recurrent infection of the gastrointestinal tract, Recurren...	ORPHA:486
Agammaglobulinemia 10, Autosomal Dominant	Decreased circulating IgA level, Decreased circulating IgG level, Decreased circulating total IgM...	OMIM:619707
Immunodeficiency, Common Variable, 7	Chronic (near) absent circulating IgG4, Decreased circulating IgA level, Reduced isohemagglutinin...	OMIM:614699
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency	Hepatomegaly, Lymphadenitis, Abnormal B cell count, Recurrent viral infections, Abnormal T cell c...	ORPHA:331206
Dissecting Cellulitis Of The Scalp	Pruritus, Abnormal hair morphology, Edema, Recurrent skin infections	ORPHA:345
B-Cell Expansion With Nfkb And T-Cell Anergy	Decreased circulating IgA level, Splenomegaly, Decreased specific antibody response to polysaccha...	OMIM:616452
Acne Inversa, Familial, 3	Perifolliculitis, Acne inversa, Chronic furunculosis, Recurrent cutaneous abscess formation	OMIM:613737
Immunodeficiency With Hyper-Igm, Type 2	Decreased circulating IgA level, Recurrent upper and lower respiratory tract infections, Decrease...	OMIM:605258
Myeloproliferative/Lymphoproliferative Neoplasms, Familial (Multiple Types), Susceptibility To	Leukopenia, Monocytosis, Eczema, Bone marrow hypocellularity, Refractory anemia, Acute myeloid le...	OMIM:616871
Lymphoproliferative Syndrome, X-Linked, 1	Hepatomegaly, Elevated circulating C-reactive protein concentration, Hemophagocytosis, Aplastic a...	OMIM:308240
Immunodeficiency 36	Decreased circulating IgA level, Lymphopenia, Decreased circulating IgG level, Enlarged tonsils, ...	OMIM:616005
Immunodeficiency 60 And Autoimmunity	Crohn's disease, Colitis, Splenomegaly, Decreased basophil count, Pancytopenia, Ulcerative coliti...	OMIM:618394
Classic Mycosis Fungoides	Hepatomegaly, Skin rash, Splenomegaly, Alopecia, Eczema, Abnormality of the nail, Hyperkeratosis,...	ORPHA:2584
Severe Combined Immunodeficiency Due To Dclre1C Deficiency	Recurrent mycobacterial infections, Recurrent gastroenteritis, Decreased circulating IgA level, R...	ORPHA:275
Neutropenia, Chronic Familial	Increased circulating antibody level, Periodontitis, Neutropenia	OMIM:162700
Optic Atrophy 9	Pallor	OMIM:616289
Immunodeficiency 104	Hepatomegaly, Otitis media, Splenomegaly, Eczema, Recurrent opportunistic infections, T lymphocyt...	OMIM:608971
Neutropenia, Severe Congenital, X-Linked	Eczema, Decreased CD4:CD8 ratio, Monocytopenia, Neutropenia	OMIM:300299
Netherton Syndrome	Sparse scalp hair, Congenital nonbullous ichthyosiform erythroderma, Decreased circulating IgG le...	OMIM:256500
Immunodeficiency 95	Lymphopenia, Increased circulating IgG3 level, Recurrent viral upper respiratory tract infections...	OMIM:619773
Immunodeficiency 70	Colitis, Decreased circulating total IgA, Decreased circulating total IgM, B lymphocytopenia, Rec...	OMIM:618969
Immunodeficiency By Defective Expression Of Mhc Class Ii	Recurrent protozoan infections, Recurrent infection of the gastrointestinal tract, Chronic hepati...	ORPHA:572
Immunodeficiency 85 And Autoimmunity	Decreased circulating IgA level, Oligoarthritis, Lymphopenia, Decreased circulating IgG level, Re...	OMIM:619510
X-Linked Sideroblastic Anemia	Pallor, Elevated hepatic transaminase, Splenomegaly	ORPHA:75563
Felty Syndrome	Rheumatoid arthritis, Splenomegaly, Neutropenia	OMIM:134750
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity	Hepatomegaly, Lymphocytic interstitial pneumonia, Splenomegaly, Recurrent urinary tract infection...	OMIM:618495
Wiskott-Aldrich Syndrome, Autosomal Dominant	Decreased specific anti-polysaccharide antibody level, Sinusitis, Lymphopenia, Increased circulat...	OMIM:600903
Hypotrichosis Simplex Of The Scalp	Sparse scalp hair, Atopic dermatitis, Allergic rhinitis, Hyperkeratosis, Fine hair, Pruritus, Slo...	ORPHA:90368
Immunodeficiency 52	Increased proportion of gamma-delta T cells, Lymphopenia, Coombs-positive hemolytic anemia, Splen...	OMIM:617514
Immunodeficiency, Partial Combined, With Absence Of Hla Determinants And Beta-2-Microglobulin From Lymphocytes	Recurrent candida infections, Recurrent bacterial infections, Decreased circulating IgG level, T ...	OMIM:242870
Asthma, Short Stature, And Elevated Iga	Increased circulating IgA level	OMIM:208600
Aquagenic Palmoplantar Keratoderma	Palmoplantar hyperhidrosis, Atopic dermatitis, Palmar pruritus, Edema, Palmoplantar keratoderma, ...	ORPHA:498359
Hyper-Ige Recurrent Infection Syndrome 4A, Autosomal Dominant	Decreased circulating IgA level, Lymphopenia, Decreased circulating IgG level, Recurrent skin inf...	OMIM:619752
Neutropenia, Severe Congenital, 5, Autosomal Recessive	Increased circulating antibody level, Hepatomegaly, Splenomegaly, Extramedullary hematopoiesis, L...	OMIM:615285
Immunodeficiency 44	Decreased circulating IgA level, Lymphopenia, Abnormal circulating IgG level, Decreased circulati...	OMIM:616636
Palmoplantar Keratoderma, Norrbotten Recessive Type	Palmoplantar keratoderma, Hyperkeratosis, Recurrent cutaneous fungal infections	OMIM:244850
Agammaglobulinemia 7, Autosomal Recessive	Neutropenia	OMIM:615214
Wiskott-Aldrich Syndrome	Eczema, Sepsis, Decreased mean platelet volume, Abnormal delayed hypersensitivity skin test, Decr...	OMIM:301000
Proteasome-Associated Autoinflammatory Syndrome 1	Hypertrichosis, Increased circulating interleukin 8 concentration, Hepatomegaly, Elevated circula...	OMIM:256040
Immunodeficiency 27A	Histiocytosis, Enlarged mesenteric lymph node, Leukocytosis, Splenomegaly, Hepatosplenomegaly, In...	OMIM:209950
Postinfectious Vasculitis	Recurrent streptococcus pneumoniae infections, Elevated circulating C-reactive protein concentrat...	ORPHA:48435
Hidrotic Ectodermal Dysplasia	Sparse hair, Sparse eyebrow, Alopecia, Slow-growing nails, Generalized hypotrichosis, Anonychia, ...	ORPHA:189
Immunoglobulin A Deficiency 2	Decreased circulating IgA level, Abnormal lymphocyte morphology, Recurrent sinopulmonary infectio...	OMIM:609529
Sweet Syndrome	Abnormality of tumor necrosis factor secretion, Increased circulating interleukin 6 concentration...	ORPHA:3243
Hyperimmunoglobulin G1(A1) Syndrome	Increased circulating IgA level, Increased circulating IgG level	OMIM:144120
Combined Immunodeficiency Due To Dock8 Deficiency	Recurrent candida infections, Onychomycosis, Recurrent bacterial skin infections, Atopic dermatit...	ORPHA:217390
Angiostrongyliasis	Unusual CNS infection, Increased circulating IgA level, Increased circulating IgG level, Increase...	ORPHA:74
Autoimmune Hemolytic Anemia, Cold Type	Pallor, Splenomegaly	ORPHA:228312
Juvenile Temporal Arteritis	Allergic rhinitis, Eosinophilia, Conjunctivitis, Leukocytosis	ORPHA:26137
Hyper-Ige Recurrent Infection Syndrome 2, Autosomal Recessive	Recurrent fungal infections, Eosinophilic infiltration of the esophagus, Eosinophilia, Decreased ...	OMIM:243700
Selective Igm Deficiency	Keratitis, Onychomycosis, Recurrent infection of the gastrointestinal tract, Otitis media, Rheuma...	ORPHA:331235
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency	Lack of T cell function, Decreased lymphocyte proliferation in response to mitogen, Acute otitis ...	ORPHA:35078
Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency	Chronic gastritis, Rheumatoid arthritis, Sepsis, Epididymitis, Chronic sinusitis, Pneumonia, Decr...	ORPHA:183675
Benign Cephalic Histiocytosis	Histiocytosis, Inflammatory abnormality of the skin, Skin rash	ORPHA:157997
Hypotrichosis 1	Sparse hair, Sparse eyebrow, Sparse eyelashes, Sparse body hair, Sparse axillary hair, Sparse pub...	OMIM:605389
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis	Increased circulating antibody level, Lymphopenia, Glomerulonephritis, Plasmacytosis, Pneumonia, ...	OMIM:247800
Methylmalonic Acidemia With Homocystinuria, Type Cbld	Pallor	ORPHA:79283
Tularemia	Increased circulating antibody level, Conjunctivitis, Leukocytosis, Abnormal nasopharyngeal adeno...	ORPHA:3392
Insulin-Resistance Syndrome Type B	Hirsutism, Decreased serum complement factor B, Increased circulating IgA level, Abnormal circula...	ORPHA:2298
Immunodeficiency 92	Decreased circulating IgA level, Abnormal B cell proliferation, Decreased circulating IgG level, ...	OMIM:619652
Cone-Rod Dystrophy 11	Pallor	OMIM:610381
Peripheral Cone Dystrophy	Pallor	OMIM:609021
Odonto-Onycho Dysplasia-Alopecia Syndrome	Hypoplastic toenails, Sparse hair, Sparse eyebrow, Alopecia, Sparse body hair, Abnormal fingernai...	ORPHA:2722
Immunodeficiency Due To Selective Anti-Polysaccharide Antibody Deficiency	Decreased specific anti-polysaccharide antibody level, Sinusitis, Recurrent upper and lower respi...	ORPHA:70593
Immunodeficiency, Common Variable, 14	Decreased circulating IgA level, Decreased circulating IgG level, Decreased circulating total IgM...	OMIM:617765
Trimethylaminuria	Anemia, Neutropenia, Recurrent pneumonia, Splenomegaly	OMIM:602079
Immunodeficiency, Common Variable, 8, With Autoimmunity	Sepsis, B lymphocytopenia, Decreased specific antibody response to vaccination, Uveitis, Pneumoni...	OMIM:614700
Holoprosencephaly, Recurrent Infections, And Monocytosis	Monocytosis, Recurrent infections, Recurrent skin infections	OMIM:610680
Retinitis Pigmentosa 70	Pallor	OMIM:615922
Mannose-Binding Lectin Deficiency	Recurrent skin infections, Recurrent Klebsiella infections, Recurrent meningococcal disease, Diss...	OMIM:614372
Primary Biliary Cholangitis	Onychomycosis, Recurrent fungal infections, Increased circulating IgA level, Abnormal circulating...	ORPHA:186
Evans Syndrome	Petechiae, Bruising susceptibility, Pallor, Epistaxis, Syncope, Jaundice	ORPHA:1959
Anonychia With Flexural Pigmentation	Anonychia, Follicular hyperkeratosis, Hyperkeratosis, Abnormal hair morphology, Alopecia of scalp	ORPHA:69125
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency	Hepatomegaly, Absent specific antibody response, Severe B lymphocytopenia, B lymphocytopenia, Red...	OMIM:102700
Eosinophil Peroxidase Deficiency	Eosinophil nuclear hypersegmentation	OMIM:261500
Hemophagocytic Lymphohistiocytosis, Familial, 4	Increased circulating ferritin concentration, Hepatomegaly, Conjunctivitis, Hemophagocytosis, Spl...	OMIM:603552
Acute Lung Injury	Abnormality of tumor necrosis factor secretion, Increased circulating interleukin 6 concentration...	ORPHA:178320
Immunodeficiency, Common Variable, 10	Onychomycosis, Decreased circulating IgA level, Decreased circulating IgG level, Recurrent oral h...	OMIM:615577
Breath-Holding Spells	Pallor	OMIM:607578
Netherton Syndrome	Sparse scalp hair, Congenital nonbullous ichthyosiform erythroderma, Skin rash, Sparse eyebrow, S...	ORPHA:634
Transcobalamin Deficiency	Decreased circulating IgA level, Neutropenia, Lymphopenia, Decreased circulating IgG level, Decre...	ORPHA:859
Anemia, Hypochromic Microcytic, With Iron Overload 2	Pallor, Hepatomegaly, Splenomegaly	OMIM:615234
Combined Immunodeficiency, X-Linked	Sinusitis, Decreased circulating IgG level, Otitis media, Decreased proportion of CD8-positive T ...	OMIM:312863
Graham Little-Piccardi-Lassueur Syndrome	Sparse scalp hair, Alopecia, Sparse axillary hair, Sparse pubic hair, Perifollicular hyperkeratos...	ORPHA:505
Immunodeficiency Due To Interleukin-1 Receptor-Associated Kinase-4 Deficiency	Neutropenia	ORPHA:70592
Schnitzler Syndrome	Hepatomegaly, Leukocytosis, Splenomegaly, Skin rash, Arthritis, Increased circulating IgM level, ...	ORPHA:37748
Vulvovaginal Gingival Syndrome	Abnormality of tumor necrosis factor secretion, Pruritus, Ridged nail, Parakeratosis	ORPHA:83453
Reticular Dysgenesis	Skin rash, Leukopenia, Dehydration, Sepsis, Chronic otitis media, Abnormality of neutrophils, Dec...	ORPHA:33355
Ichthyosis, Congenital, Autosomal Recessive 13	Onychomycosis, Hyperkeratosis, Hypergranulosis, Palmoplantar hyperkeratosis	OMIM:617574
X-Linked Severe Congenital Neutropenia	Monocytopenia, Neutropenia	ORPHA:86788
Hyper-Ige Recurrent Infection Syndrome 1, Autosomal Dominant	Eczematoid dermatitis, Recurrent fungal infections, Skin rash, Eosinophilia, Chronic mucocutaneou...	OMIM:147060
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation	Lymphopenia, Hepatomegaly, Aplasia of the thymus, Splenomegaly, Abnormally low T cell receptor ex...	OMIM:602450
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome	Hypoplasia of the thymus, Eczema, Decreased proportion of CD8-positive T cells, Decreased proport...	OMIM:617241
Nevoid Hypermelanosis, Linear And Whorled	Eosinophilia	OMIM:614323
Agammaglobulinemia, X-Linked	Enteroviral hepatitis, Sepsis, B lymphocytopenia, Epididymitis, Decreased circulating IgE, Septic...	OMIM:300755
Familial Reactive Perforating Collagenosis	Inflammatory abnormality of the skin, Perifolliculitis, Maculopapular exanthema, Crusting erythem...	ORPHA:79147
Auditory Neuropathy And Optic Atrophy	Pallor	OMIM:617717
Poikiloderma With Neutropenia	Blepharitis, Recurrent otitis media, Recurrent bronchopulmonary infections, Skin rash, Splenomega...	OMIM:604173
Acute Myelomonocytic Leukemia	Pallor, Abnormal bleeding	ORPHA:517
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease	Increased circulating ferritin concentration, Colitis, Hemophagocytosis, Splenomegaly, Abnormal n...	OMIM:613101
Immunodeficiency, Developmental Delay, And Hypohomocysteinemia	Decreased circulating IgA level, Recurrent skin infections, Decreased serum creatinine, Recurrent...	OMIM:617744
Ichthyosis Hystrix Of Curth-Macklin	Recurrent skin infections, Diffuse palmoplantar hyperkeratosis, Ichthyosis, Hyperkeratosis, Nail ...	ORPHA:79503
Lymphoproliferative Syndrome 2	EBV meningitis, Decreased lymphocyte proliferation in response to mitogen, Hepatomegaly, Hemophag...	OMIM:615122
Elliptocytosis 1	Pallor, Jaundice, Splenomegaly	OMIM:611804
Neutropenia, Severe Congenital, 4, Autosomal Recessive	Hepatomegaly, Otitis media, Sepsis, Splenomegaly, Recurrent urinary tract infections, Erythroid h...	OMIM:612541
Immunodeficiency, Common Variable, 12, With Autoimmunity	Recurrent sinopulmonary infections, Recurrent skin infections, Alopecia, Atrophic gastritis, Recu...	OMIM:616576
Omenn Syndrome	Recurrent fungal infections, Hepatomegaly, Hypoproteinemia, Splenomegaly, Alopecia, Eosinophilia,...	OMIM:603554
Hyperimmunoglobulinemia D With Periodic Fever	Increased circulating IgA level, Hepatomegaly, Peritonitis, Arthritis, Recurrent aphthous stomati...	ORPHA:343
Immunodeficiency 69	Increased circulating ferritin concentration, Leukocytosis, Splenomegaly, Skin rash, Hepatospleno...	OMIM:618963
Proteasome-Associated Autoinflammatory Syndrome 3	Increased circulating antibody level, Sinusitis, Lymphopenia, Hepatomegaly, Panniculitis, Splenom...	OMIM:617591
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive	Otitis media, Purulent rhinitis, Recurrent opportunistic infections, B lymphocytopenia, Panhypoga...	OMIM:601457
Irida Syndrome	Pallor, Intrahepatic cholestasis	ORPHA:209981
Immunodeficiency, Common Variable, 11	Crohn's disease, Decreased circulating IgG level, Inflammation of the large intestine, Decreased ...	OMIM:615767
Persistent Polyclonal B-Cell Lymphocytosis	Hepatomegaly, Lymphocytosis, Splenomegaly, Decreased circulating total IgM, Recurrent infections	OMIM:606445
Sézary Syndrome	Hepatomegaly, Splenomegaly, Alopecia, Abnormal immunoglobulin level, Edema, Nail dystrophy, Eryth...	ORPHA:3162
Immunodeficiency 96	Increased mean corpuscular volume, Decreased circulating IgA level, Decreased circulating IgG lev...	OMIM:619774
Hypotrichosis Simplex	Sparse scalp hair, Sparse hair, Sparse eyebrow, Alopecia, Sparse body hair, Sparse eyelashes	ORPHA:55654
Dystrophic Epidermolysis Bullosa Pruriginosa	Hyperkeratosis, Pruritus, Nail dystrophy, Abnormal toenail morphology, Increased circulating IgE ...	ORPHA:89843
Anemia, Sideroblastic, 5	Hypochromic microcytic anemia, Neutropenia, Reduced hematocrit, Anemia, Thrombocytopenia	OMIM:619523
Primary Intestinal Lymphangiectasia	Peritoneal effusion, Generalized edema, Decreased circulating IgA level, Opportunistic infection,...	ORPHA:90362
Witkop Syndrome	Sparse hair, Ridged nail, Fine hair, Concave nail, Nail pits, Small nail	OMIM:189500
Immunodeficiency 57 With Autoinflammation	Gastritis, Skin rash, B lymphocytopenia, T lymphocytopenia, Inflammation of the large intestine, ...	OMIM:618108
Retinitis Pigmentosa 73	Pallor	OMIM:616544
Insulin-Resistance Syndrome Type A	Generalized hirsutism, Hyperkeratosis	ORPHA:2297
Ichthyosis-Hypotrichosis Syndrome	Ichthyosis, Sparse hair	ORPHA:91132
Parana Hard Skin Syndrome	Generalized hirsutism, Hyperkeratosis, Thickened skin	ORPHA:2812
Verrucous Hemangioma	Hyperkeratotic papule, Inflammatory abnormality of the skin	ORPHA:464318
Beta-Thalassemia	Cholelithiasis, Hepatomegaly, Splenomegaly, Pallor, Hepatitis, Skin ulcer, Hypertrophic cardiomyo...	ORPHA:848
Hypotrichosis 11	Alopecia universalis, Sparse hair, Aplasia/Hypoplasia of the eyebrow, Sparse or absent eyelashes,...	OMIM:615059
Ichthyosis, Lamellar, Autosomal Dominant	Congenital nonbullous ichthyosiform erythroderma, Hyperkeratosis, Pruritus	OMIM:146750
Autosomal Recessive Generalized Epidermolysis Bullosa Simplex	Abnormal fingernail morphology, Palmoplantar hyperkeratosis, Hyperkeratosis, Absent toenail, Ridg...	ORPHA:89838
Simple Cryoglobulinemia	Viral hepatitis, Nephritis, Complement deficiency, Monoclonal elevation of circulating IgA, Membr...	ORPHA:91139
Cernunnos-Xlf Deficiency	Lymphopenia, Recurrent bacterial infections, B lymphocytopenia, T lymphocytopenia, Decreased circ...	ORPHA:169079
Porokeratosis Of Mibelli	Hyperkeratosis, Porokeratosis, Pruritus	ORPHA:735
Myelofibrosis	Pallor, Purpura, Splenomegaly	OMIM:254450
Anemia, Congenital Dyserythropoietic, Type Ib	Pallor, Hepatomegaly, Jaundice, Splenomegaly	OMIM:615631
Lymphoproliferative Syndrome 1	Increased circulating ferritin concentration, Decreased circulating IgG level, Hepatomegaly, Elev...	OMIM:613011
Benign Paroxysmal Torticollis Of Infancy	Pallor	ORPHA:71518
Immunodeficiency 86	Increased circulating IgM level, BCGitis, Decreased circulating IgG level, Impaired oxidative burst	OMIM:619549
Adult Acute Respiratory Distress Syndrome	Abnormality of tumor necrosis factor secretion, Increased circulating interleukin 6 concentration...	ORPHA:70578
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome	Recurrent gastroenteritis, Gastritis, Alopecia, Eczema, Sepsis, Decreased prealbumin level, Pneum...	ORPHA:37042
Mental Retardation, Microcephaly, Growth Retardation, Joint Contractures, And Facial Dysmorphism	Atopic dermatitis, Thick eyebrow, Sparse hair, Widow's peak	OMIM:606242
Immunodeficiency, Ovarian Dysgenesis, And Pulmonary Fibrosis	Decreased circulating IgA level, Decreased circulating IgG level, Decreased circulating total IgM...	OMIM:611926
Hb Bart'S Hydrops Fetalis	Hepatomegaly, Splenomegaly, Pallor, Pericarditis, Congestive heart failure	ORPHA:163596
Hyperinsulinism Due To Ucp2 Deficiency	Hepatomegaly, Pallor, Diffuse pancreatic islet hyperplasia, Palpitations, Tachycardia, Syncope, H...	ORPHA:276556
Multiple Myeloma	Increased circulating IgA level, Splenomegaly, Hyperproteinemia, Increased circulating IgG level,...	ORPHA:29073
Lymphoma, Hodgkin, Classic	Impaired lymphocyte transformation with phytohemagglutinin, Polyclonal elevation of IgM	OMIM:236000
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency	Hepatomegaly, Pallor, Diffuse pancreatic islet hyperplasia, Palpitations, Tachycardia, Syncope, F...	ORPHA:276575
Loose Anagen Hair Syndrome	Loose anagen hair, Fair hair, Sparse hair	OMIM:600628
Rothmund-Thomson Syndrome, Type 1	Sparse hair, Absent eyebrow, Hyperkeratosis, Absent eyelashes, Recurrent otitis media, Nail dystr...	OMIM:618625
Leishmaniasis	Increased circulating antibody level, Hepatomegaly, Rhinitis, Splenomegaly, Leukopenia, Abnormal ...	ORPHA:507
Immunodeficiency 15A	Acne inversa, Decreased proportion of CD8-positive T cells, Recurrent sinusitis, Decreased propor...	OMIM:618204
Dermatitis, Atopic	Pallor, Dry skin, Facial erythema	OMIM:603165
Ichthyosis, Hystrix-Like, With Deafness	Sparse scalp hair, Sparse eyebrow, Sparse eyelashes, Palmoplantar hyperkeratosis, Ichthyosis, Hyp...	OMIM:602540
Congenital Disorder Of Glycosylation, Type Iil	Decreased specific anti-polysaccharide antibody level, Hepatomegaly, Splenomegaly, Cirrhosis, Imp...	OMIM:614576
Hyper-Ige Recurrent Infection Syndrome 3, Autosomal Recessive	Recurrent skin infections, Alopecia, Eosinophilia, Eczema, Atopic dermatitis, Chronic mucocutaneo...	OMIM:618282
Immunoglobulin A Deficiency 1	Decreased circulating IgA level, Recurrent infection of the gastrointestinal tract, Recurrent inf...	OMIM:137100
Palmoplantar Keratoderma, Epidermolytic	Palmar hyperkeratosis, Plantar hyperkeratosis, Localized epidermolytic hyperkeratosis, Palmoplant...	OMIM:144200
Mu-Heavy Chain Disease	Increased circulating antibody level, Hepatomegaly, Splenomegaly, Abnormal B cell count, Anemia, ...	ORPHA:100024
Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia	Megaloblastic anemia, Anemia of inadequate production, Lymphopenia, Eczema, Macrocytic anemia, Th...	OMIM:617780
Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency	Pallor, Hepatomegaly, Jaundice	OMIM:613839
Acrokeratosis Verruciformis	Hyperkeratosis, Acrokeratosis, Ridged nail	OMIM:101900
Peeling Skin Syndrome 1	Palmoplantar hyperhidrosis, Brittle hair, Eosinophilia, Nail dystrophy, Pruritus, Erythroderma, I...	OMIM:270300
Proteasome-Associated Autoinflammatory Syndrome 5	Hypertriglyceridemia, Hepatomegaly, Skin rash, Splenomegaly	OMIM:619175
Macroglobulinemia, Waldenstrom, Susceptibility To, 1	Impaired lymphocyte transformation with phytohemagglutinin, Leukemia, Polyclonal elevation of IgM...	OMIM:153600
Retinitis Pigmentosa 27	Pallor	OMIM:613750
Immune Deficiency, Familial Variable	Decreased circulating IgA level, Decreased circulating IgG level, Recurrent infections	OMIM:146830
Optic Atrophy 1	Pallor	OMIM:165500
Intellectual Developmental Disorder, X-Linked, Syndromic, Chudley-Schwartz Type	Hirsutism, Decreased circulating IgA level, Decreased circulating IgG level, Decreased circulatin...	OMIM:300861
Autosomal Agammaglobulinemia	Sinusitis, Osteomyelitis, Skin rash, Recurrent skin infections, Dehydration, Sepsis, Chronic otit...	ORPHA:33110
Combined Immunodeficiency With Faciooculoskeletal Anomalies	Hypertrichosis, B lymphocytopenia, Decreased specific antibody response to vaccination, Recurrent...	ORPHA:221139
Alopecia-Epilepsy-Pyorrhea-Intellectual Disability Syndrome	Sparse scalp hair, Alopecia universalis, Periodontitis, Sparse body hair, Abnormal eyelash morpho...	ORPHA:1008
Bone Marrow Failure Syndrome 4	Leukopenia, Eczema, Decreased circulating antibody level, Bone marrow hypocellularity, Anemia, Th...	OMIM:618116
Cole Disease	Palmoplantar keratoderma, Hyperkeratosis, Hypergranulosis	OMIM:615522
Combined Immunodeficiency Due To Zap70 Deficiency	Recurrent infection of the gastrointestinal tract, Lymphadenitis, Recurrent opportunistic infecti...	ORPHA:911
Hyper-Ige Recurrent Infection Syndrome 4B, Autosomal Recessive	Keratitis, Eosinophilia, Eczema, Recurrent otitis media, Bronchiectasis, Increased circulating Ig...	OMIM:618523
Prolidase Deficiency	Increased circulating antibody level, Hepatomegaly, Splenomegaly, Facial hirsutism, Eczema, Recur...	OMIM:170100
Pyruvate Kinase Deficiency Of Red Cells	Cholelithiasis, Hepatomegaly, Splenomegaly, Pallor, Cholecystitis, Jaundice, Reduced red cell pyr...	OMIM:266200
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency	Hepatomegaly, Pallor, Diffuse pancreatic islet hyperplasia, Palpitations, Tachycardia, Syncope, H...	ORPHA:276580
X-Linked Agammaglobulinemia	Sinusitis, Hypocalcemia, Osteomyelitis, Skin rash, Alopecia, Sepsis, Abnormality of the lymphatic...	ORPHA:47
Combined Cellular And Humoral Immune Defects With Granulomas	Recurrent respiratory infections, Decreased circulating IgG level, B lymphocytopenia, T lymphocyt...	OMIM:233650
Hypotrichosis 4	Sparse scalp hair, Sparse eyebrow, Sparse eyelashes, Sparse body hair, Alopecia, Uncombable hair	OMIM:146550
Hypotrichosis 9	Sparse scalp hair, Sparse body hair	OMIM:614237
Hypotrichosis 14	Sparse body hair, Sparse hair	OMIM:618275
Alpha-Heavy Chain Disease	Hypocalcemia, Hepatomegaly, Splenomegaly, Alopecia, Dysgammaglobulinemia, Anemia, Ascites, Lympha...	ORPHA:100025
Thrombocytopenia 1	Increased circulating IgA level, Eczema, Congenital thrombocytopenia, Decreased mean platelet vol...	OMIM:313900
Optic Atrophy 7 With Or Without Auditory Neuropathy	Pallor, Hypertrophic cardiomyopathy	OMIM:612989
Autoinflammation, Antibody Deficiency, And Immune Dysregulation	Decreased circulating IgA level, Enterocolitis, Interstitial pneumonitis, Decreased circulating t...	OMIM:614878
Hypotrichosis 10	Sparse body hair, Sparse eyebrow, Sparse eyelashes	OMIM:614238
Gamma-A-Globulin, Defect In Assembly Of	Decreased circulating IgA level, Recurrent respiratory infections	OMIM:137050
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked	Coombs-positive hemolytic anemia, Alopecia, Severe infection, Eosinophilia, Eczema, Autoimmune th...	OMIM:304790
Palmoplantar Keratoderma, Nagashima Type	Palmoplantar hyperhidrosis, Orthokeratotic hyperkeratosis, Hypergranulosis	OMIM:615598
Familial Cold Autoinflammatory Syndrome 2	Elevated circulating C-reactive protein concentration, Skin rash, Leukocytosis, Splenomegaly, Art...	OMIM:611762
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome	Pallor	ORPHA:2786
Cinca Syndrome	Elevated circulating C-reactive protein concentration, Leukocytosis, Skin rash, Eosinophilia, Hep...	OMIM:607115
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome	Pallor, Tachycardia, Pancreatic islet-cell hyperplasia	ORPHA:276608
Leukomelanoderma, Infantilism, Mental Retardation, Hypodontia, Hypotrichosis	Sparse hair	OMIM:246500
Hemoglobin D Disease	Pallor, Splenomegaly	ORPHA:90039
Drug-Induced Autoimmune Hemolytic Anemia	Pallor, Tachycardia, Congestive heart failure, Splenomegaly	ORPHA:90037
Insulin Autoimmune Syndrome	Increased circulating antibody level, Acanthosis nigricans, Arthralgia/arthritis	ORPHA:411593
Psoriasis 14, Pustular	Oligoarthritis, Elevated circulating C-reactive protein concentration, Neutrophilia, Leukocytosis...	OMIM:614204
Erythrokeratodermia Variabilis Et Progressiva 5	Hyperkeratosis, Palmoplantar hyperkeratosis	OMIM:617756
Hemophagocytic Syndrome Associated With An Infection	Increased circulating ferritin concentration, Hepatomegaly, Hemophagocytosis, Abnormal cytokine s...	ORPHA:158048
Immunodeficiency 35	Recurrent mycobacterial infections, Recurrent fungal infections, Recurrent viral infections, Incr...	OMIM:611521
Autoinflammation With Infantile Enterocolitis	Increased circulating ferritin concentration, Elevated circulating C-reactive protein concentrati...	OMIM:616050
T-Cell Lymphopenia, Infantile, With Or Without Nail Dystrophy, Autosomal Dominant	Abnormally low T cell receptor excision circle level, Atopic dermatitis, Recurrent upper respirat...	OMIM:618806
Adult-Onset Still Disease	Joint swelling, Hepatomegaly, Neutrophilia, Leukocytosis, Splenomegaly, Elevated circulating C-re...	ORPHA:829
Erythrokeratodermia Variabilis	Generalized hirsutism, Skin rash, Alopecia, Patchy palmoplantar hyperkeratosis, Hyperkeratosis, A...	ORPHA:317
Systemic Mastocytosis With Associated Hematologic Neoplasm	Abnormal mast cell morphology, Neutrophilia, Leukocytosis, Splenomegaly, Myeloproliferative disor...	ORPHA:98849
Panniculitis-Induced Localized Lipodystrophy	Inflammatory abnormality of the skin, Abnormal immunoglobulin level	ORPHA:90159
Pyogenic Sterile Arthritis, Pyoderma Gangrenosum, And Acne	Cystic acne, Colitis, Elevated circulating C-reactive protein concentration, Sterile abscess, Hep...	OMIM:604416
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome	Recurrent gastroenteritis, Hepatomegaly, Absence of lymph node germinal center, Panhypogammaglobu...	ORPHA:79124
Ulerythema Ophryogenesis	Follicular hyperkeratosis, Contact dermatitis, Acne, Hyperkeratotic papule, Sparse lateral eyebrow	ORPHA:3406
Pyogenic Arthritis-Pyoderma Gangrenosum-Acne Syndrome	Increased circulating antibody level, Crohn's disease, Pustule, Myositis, Arthritis, Increased in...	ORPHA:69126
Perifolliculitis Capitis Abscedens Et Suffodiens, Familial	Perifolliculitis, Alopecia, Alopecia of scalp	OMIM:260910
Dermatoleukodystrophy	Hyperkeratosis, Thickened skin	ORPHA:1659
Immunodeficiency 21	Lymphopenia, Abnormal natural killer cell morphology, Aplastic anemia, Myeloid leukemia, Neutrope...	OMIM:614172
Osteomyelitis, Sterile Multifocal, With Periostitis And Pustulosis	Joint swelling, Osteomyelitis, Elevated circulating C-reactive protein concentration, Hepatomegal...	OMIM:612852
Hereditary Palmoplantar Keratoderma, Gamborg-Nielsen Type	Diffuse palmoplantar hyperkeratosis, Hyperkeratosis with erythema	ORPHA:86923
Palmoplantar Keratoderma, Punctate Type Iii	Hyperkeratosis, Acrokeratosis	OMIM:101850
Sjogren-Larsson-Like Ichthyosis Without Cns Or Eye Involvement	Hyperkeratosis, Congenital ichthyosiform erythroderma	OMIM:270220
Palmoplantar Keratoderma, Nonepidermolytic, Focal 2	Palmoplantar keratoderma, Hyperkeratosis	OMIM:616400
Ectodermal Dysplasia 6, Hair/Nail Type	Thin toenail, Dystrophic toenail, Sparse hair, Alopecia	OMIM:614928
Dowling-Degos Disease 2	Hyperkeratotic papule, Follicular hyperkeratosis	OMIM:615327
Mucopolysaccharidosis-Plus Syndrome	Hepatomegaly, Sepsis, Coarse hair, Enlarged kidney, Long eyelashes, Bone marrow hypocellularity, ...	OMIM:617303
Atrichia With Papular Lesions	Sparse hair	OMIM:209500
Primary Myelofibrosis	Petechiae, Hepatomegaly, Splenomegaly, Pallor, Abnormal bleeding, Hepatosplenomegaly, Increased c...	ORPHA:824
Griscelli Syndrome	Abnormal eyebrow morphology, Hepatomegaly, Splenomegaly, Abnormal circulating lipid concentration...	ORPHA:381
Palmoplantar Keratoderma-Deafness Syndrome	Palmoplantar keratoderma, Hyperkeratosis	ORPHA:2202
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2	Increased mean corpuscular volume, Neutropenia, Pancytopenia, Anemia, Thrombocytopenia, Acute mye...	OMIM:619041
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome	Chronic oral candidiasis, Splenomegaly, Abscess, B lymphocytopenia, Intermittent thrombocytopenia...	OMIM:150550
Leber Congenital Amaurosis 14	Pallor	OMIM:613341
Epidermolysis Bullosa Simplex 6, Generalized, With Scarring And Hair Loss	Alopecia, Diffuse palmoplantar hyperkeratosis, Sparse body hair, Onychogryposis of toenails, Dyst...	OMIM:617294
Lamellar Ichthyosis	Sparse hair, Aplasia/Hypoplasia of the eyebrow, Dehydration, Sepsis, Chronic otitis media, Ichthy...	ORPHA:313
Primary Lateral Sclerosis, Juvenile	Pallor	OMIM:606353
Ataxia-Pancytopenia Syndrome	Hypoplastic anemia, Acute myelomonocytic leukemia, Splenomegaly, Abnormal platelet function, Abno...	ORPHA:2585
Prolidase Deficiency	Hirsutism, Generalized hirsutism, Hepatomegaly, Low anterior hairline, Splenomegaly, Abnormal fin...	ORPHA:742
Trichothiodystrophy 1, Photosensitive	Pili torti, Congenital nonbullous ichthyosiform erythroderma, Decreased circulating IgG level, Sp...	OMIM:601675
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema	Cholelithiasis, Hepatomegaly, Splenomegaly, Pallor, Hepatitis, Jaundice	OMIM:194380
Roifman Syndrome	Hyperconvex nail, Eosinophilia, Eczema, Hepatosplenomegaly, Prominent eyelashes, Decreased circul...	ORPHA:353298
Ichthyosis, Congenital, Autosomal Recessive 11	Pili torti, Blepharitis, Sparse hair, Brittle hair, Sparse eyelashes, Sparse body hair, Sparse ey...	OMIM:602400
Ige Responsiveness, Atopic	Allergic rhinitis, Increased circulating IgE level, Eczema	OMIM:147050
Osteopenia And Sparse Hair	Sparse hair	OMIM:259690
Congenital Dyserythropoietic Anemia Type Iii	Melena, Post-partum hemorrhage, Pallor, Oral cavity bleeding, Elevated hepatic transaminase, Ging...	ORPHA:98870
Cirrhosis, Familial	Cirrhosis, Increased circulating antibody level, Hepatitis, Chronic active hepatitis	OMIM:118900
Secondary Intestinal Lymphangiectasia	Decreased circulating IgA level, Lymphopenia, Reduced circulating transferrin concentration, Cirr...	ORPHA:90363
Wiskott-Aldrich Syndrome 2	Defective T cell proliferation, Eczema, Decreased proportion of CD8-positive T cells, Reduced nat...	OMIM:614493
Epidermolysis Bullosa Simplex 1C, Localized	Hyperkeratosis	OMIM:131800
Acquired Ichthyosis	Recurrent skin infections, Ichthyosis, Hyperkeratosis, Pruritus, Palmoplantar keratoderma	ORPHA:454
Immunodeficiency 82 With Systemic Inflammation	Elevated circulating C-reactive protein concentration, Gastritis, B lymphocytopenia, Pneumonia, D...	OMIM:619381
Beta-Thalassemia Intermedia	Cholelithiasis, Decreased liver function, High-output congestive heart failure, Hepatomegaly, Spl...	ORPHA:231222
Hyperinsulinism Due To Hnf1A Deficiency	Hepatomegaly, Pallor, Palpitations, Tachycardia, Syncope	ORPHA:324575
Immunodeficiency 98 With Autoinflammation, X-Linked	Recurrent otitis media, Decreased circulating IgG level, Hepatomegaly, Hemophagocytosis, Splenome...	OMIM:301078
Pigmentary Disorder, Reticulate, With Systemic Manifestations, X-Linked	Colitis, Increased circulating interleukin 8 concentration, Reduced circulating interferon gamma,...	OMIM:301220
Thiamine-Responsive Megaloblastic Anemia Syndrome	Pallor, Cardiac arrest, Paroxysmal atrial tachycardia, Congestive heart failure	ORPHA:49827
Alopecia Antibody Deficiency	Sparse hair, Sparse body hair, Aplasia/Hypoplasia of the eyebrow, Abnormal eyelash morphology, De...	ORPHA:1006
Cerebellar Ataxia And Ectodermal Dysplasia	Sparse hair, Alopecia	OMIM:212835
Zika Virus Disease	Skin rash, Maculopapular exanthema, Myelitis, Arthritis, Meningitis, Increased circulating IgM le...	ORPHA:448237
Acne Inversa, Familial, 2, With Or Without Dowling-Degos Disease	Chronic furunculosis, Perifolliculitis, Acne inversa, Follicular hyperkeratosis, Recurrent cutane...	OMIM:613736
Autosomal Dominant Hypohidrotic Ectodermal Dysplasia	Sparse hair, Sparse body hair, Eczema, Hypohidrosis, Abnormal fingernail morphology, Thin skin	ORPHA:1810
Thymic Aplasia	Recurrent streptococcus pneumoniae infections, Recurrent infection of the gastrointestinal tract,...	ORPHA:83471
Palmoplantar Keratoderma And Congenital Alopecia 2	Nail dysplasia, Sclerodactyly, Palmoplantar hyperkeratosis, Alopecia totalis, Hyperkeratosis, Nai...	OMIM:212360
Mal De Meleda	Inflammatory abnormality of the skin, Ichthyosis, Superficial dermal perivascular inflammatory in...	ORPHA:87503
Igg4-Related Dacryoadenitis And Sialadenitis	Increased circulating IgA level, Facial edema, Palpebral edema, Xerostomia, Myositis, Increased c...	ORPHA:79078
Immunodeficiency 23	Lymphopenia, Eosinophilia, Abscess, Eczema, Increased circulating IgG level, Membranoproliferativ...	OMIM:615816
Hypotrichosis, Congenital, With Juvenile Macular Dystrophy	Pili torti, Sparse hair, Reduced terminal:vellus ratio	OMIM:601553
Bloom Syndrome	Recurrent gastroenteritis, Cheilitis, Abnormal proportion of CD8-positive T cells, Otitis media, ...	ORPHA:125
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Intermediate Form	Palmar hyperkeratosis, Plantar hyperkeratosis, Hyperkeratosis, Pruritus, Nail dystrophy	ORPHA:79399
Cold Agglutinin Disease	Pallor, Hepatomegaly, Splenomegaly	ORPHA:56425
Ataxia-Telangiectasia	Decreased circulating IgA level, Sinusitis, Lymphopenia, Decreased circulating IgG level, Elevate...	OMIM:208900
Congenital Panfollicular Nevus	Hyperkeratosis	ORPHA:139414
Mogs-Cdg	Decreased circulating IgA level, Hirsutism, Decreased circulating IgG level, Hepatomegaly, Pulmon...	ORPHA:79330
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1	Decreased circulating IgA level, Sinusitis, T lymphocytopenia, Increased circulating IgM level, P...	OMIM:242860
Neonatal Lupus Erythematosus	Neutropenia, Hepatomegaly, Parakeratosis, Skin rash, Splenomegaly, Maculopapular exanthema, Aplas...	ORPHA:398124
Popov-Chang syndrome	Lymphopenia, Coarse hair, Hyperkeratosis, Decreased circulating antibody level, Recurrent otitis ...	OMIM:618428
Alopecia, Congenital	Sparse hair, Alopecia	OMIM:300042
Angioma Serpiginosum, X-Linked	Fine hair, Hyperkeratosis, Sparse hair, Nail dystrophy	OMIM:300652
Hyperkeratosis-Hyperpigmentation Syndrome	Hyperkeratosis	ORPHA:1336
Poikiloderma, Hereditary Fibrosing, With Tendon Contractures, Myopathy, And Pulmonary Fibrosis	Nail dysplasia, Hepatomegaly, Alopecia, Elevated circulating creatine kinase concentration, Erysi...	OMIM:615704
Deafness-Lymphedema-Leukemia Syndrome	Hepatomegaly, Bruising susceptibility, Splenomegaly, Pallor, Intracranial hemorrhage, Prolonged b...	ORPHA:3226
Immunodeficiency 58	Onychomycosis, Eczema, Helicobacter pylori infection, Decreased specific antibody response to vac...	OMIM:618131
Boutonneuse Fever	Skin rash, Cervical lymphadenopathy, Maculopapular exanthema, Leukopenia, Increased circulating I...	ORPHA:83313
Epidermolysis Bullosa Simplex 4, Localized Or Generalized Intermediate, Autosomal Recessive	Hyperkeratosis	OMIM:615028
Juvenile Idiopathic Arthritis	Joint swelling, Hepatomegaly, Skin rash, Splenomegaly, Mediastinal lymphadenopathy, Arthritis, Ab...	ORPHA:92
Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige	Orthokeratosis, Sparse hair, Recurrent skin infections, Psoriasiform dermatitis, Hypernatremia, A...	OMIM:615508
Deafness, Neural, With Atypical Atopic Dermatitis	Increased circulating IgE level, Late onset atopic dermatitis	OMIM:221700
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Recessive	Sparse hair, Alopecia, Cirrhosis, Fragile nails, Ichthyosis, Hypoalbuminemia, Decreased circulati...	OMIM:242150
Autoimmune Hemolytic Anemia	Pallor, Arrhythmia, Congestive heart failure, Splenomegaly	ORPHA:98375
Erythrokeratoderma ''En Cocardes''	Hyperkeratosis	ORPHA:315
Ichthyosis, Congenital, Autosomal Recessive 1	Nail dysplasia, Congenital nonbullous ichthyosiform erythroderma, Sparse hair, Alopecia, Palmopla...	OMIM:242300
Isolated Agammaglobulinemia	Sinusitis, Skin rash, Otitis media, Sepsis, Abnormality of the lymphatic system, Abnormal lymphoc...	ORPHA:229717
Spontaneous Periodic Hypothermia	Pallor, Arrhythmia	ORPHA:29822
Myoclonus, Intractable, Neonatal	Pallor	OMIM:617235
Ichthyosis, Congenital, Autosomal Recessive 10	Congenital nonbullous ichthyosiform erythroderma, Orthokeratotic hyperkeratosis, Hyperkeratosis, ...	OMIM:615024
Omenn Syndrome	Hepatomegaly, Leukocytosis, Splenomegaly, Alopecia, Aplasia/Hypoplasia of the eyebrow, Eosinophil...	ORPHA:39041
Hyperkeratosis Lenticularis Perstans	Hyperkeratosis lenticularis perstans	OMIM:144150
Angioma Serpiginosum, Autosomal Dominant	Hyperkeratosis	OMIM:106050
Reticulate Acropigmentation Of Kitamura	Hyperkeratosis	OMIM:615537
Papillomatosis, Confluent And Reticulated	Hyperkeratosis	OMIM:167900
Bathing Suit Ichthyosis	Congenital nonbullous ichthyosiform erythroderma, Sparse hair, Alopecia, Hypohidrosis, Palmoplant...	ORPHA:100976
Peeling Skin Syndrome 5	Hyperkeratosis	OMIM:617115
Psoriasis-Related Juvenile Idiopathic Arthritis	Abnormality of tumor necrosis factor secretion, Iridocyclitis, Oligoarthritis, Skin rash, Iritis,...	ORPHA:85436
Autoimmune Hemolytic Anemia, Warm Type	Splenomegaly, Pallor, Tachycardia, Jaundice, Congestive heart failure	ORPHA:90033
Neonatal Ichthyosis-Sclerosing Cholangitis Syndrome	Sparse scalp hair, Hepatomegaly, Sparse eyebrow, Splenomegaly, Sparse eyelashes, Sparse body hair...	ORPHA:59303
Purine Nucleoside Phosphorylase Deficiency	Otitis media, Impaired T cell function, Recurrent opportunistic infections, Pneumonia, Recurrent ...	OMIM:613179
Growth Hormone Insensitivity Syndrome With Immune Dysregulation 2, Autosomal Dominant	Increased circulating IgE level, Eczema, Recurrent infections, Thyroiditis	OMIM:618985
Ectodermal Dysplasia 9, Hair/Nail Type	Nail dysplasia, Atrichia, Absent hair, Sparse hair, Absent eyelashes, Nail dystrophy, Concave nail	OMIM:614931
Okur-Chung Neurodevelopmental Syndrome	Decreased circulating IgA level, Decreased circulating IgG level, Decreased circulating antibody ...	OMIM:617062
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative	Decreased lymphocyte proliferation in response to anti-CD3, Recurrent otitis media, Lymphopenia, ...	OMIM:600802
Ectodermal Dysplasia-Syndactyly Syndrome 2	Sparse hair, Follicular hyperkeratosis, Palmoplantar keratoderma, Hyperhidrosis, Cardiomegaly, Co...	OMIM:613576
Pili Torti-Onychodysplasia Syndrome	Alopecia universalis, Absent eyebrow, Brittle hair, Alopecia, Sparse body hair, Congenital onycho...	ORPHA:2890
Autosomal Dominant Hyper-Ige Syndrome	Osteomyelitis, Skin rash, Eosinophilia, Eczema, Paronychia, Chronic otitis media, Recurrent infec...	ORPHA:2314
American Trypanosomiasis	Hepatomegaly, Splenomegaly, Pallor, Arrhythmia, Myocarditis, Cardiomyopathy, Congestive heart fai...	ORPHA:3386
Bazex Syndrome	Yellow nails, Acanthosis nigricans, Hyperkeratosis, Edema, Nail dystrophy, Pruritus, Palmoplantar...	ORPHA:166113
Mevalonic Aciduria	Fluctuating hepatomegaly, Morbilliform rash, Elevated circulating C-reactive protein concentratio...	OMIM:610377
Epidermolytic Palmoplantar Keratoderma	Palmar hyperkeratosis, Diffuse palmoplantar hyperkeratosis, Palmoplantar hyperkeratosis, Abnormal...	ORPHA:2199
Hemophagocytic Lymphohistiocytosis, Familial, 2	Increased circulating ferritin concentration, Hepatomegaly, Hemophagocytosis, Pancytopenia, Gener...	OMIM:603553
Cholestasis-Lymphedema Syndrome	Hyperlipidemia, Hepatomegaly, Splenomegaly, Cirrhosis, Erysipelas, Conjugated hyperbilirubinemia,...	OMIM:214900
Epidermolysis Bullosa Dystrophica, Pretibial	Pruritus, Hyperkeratosis, Nail dystrophy	OMIM:131850
Bazex Syndrome	Pili torti, Sparse hair, Eczema, Acne inversa, Atopic dermatitis, Coarse hair, Trichorrhexis nodo...	OMIM:301845
Olmsted Syndrome 2	Alopecia universalis, Cheilitis, Woolly hair, Sparse hair, Palmoplantar hyperkeratosis, Perioral ...	OMIM:619208
Autoimmune Disease, Multisystem, Infantile-Onset, 1	Exocrine pancreatic insufficiency, Neutropenia in presence of anti-neutropil antibodies, Hepatosp...	OMIM:615952
Thrombocytopenia 5	Anemia, Thrombocytopenia, Neutropenia	OMIM:616216
Non-Functioning Paraganglioma	Hypertension associated with pheochromocytoma, Positive regitine blocking test, Cerebral hemorrha...	ORPHA:94080
Alg12-Cdg	Partial absence of specific antibody response to Haemophilus influenzae type b (Hib) vaccine, Abn...	ORPHA:79324
Quinquaud Folliculitis Decalvans	Pustule, Patchy alopecia, Recurrent skin infections, Scarring alopecia of scalp, Abnormal hair mo...	ORPHA:346
Hyperinsulinism Due To Hnf4A Deficiency	Hepatomegaly, Elevated circulating alkaline phosphatase concentration, Pallor, Increased hepatic ...	ORPHA:263455
Granulomatous Disease, Chronic, Autosomal Recessive, 5	Crohn's disease, Onychomycosis, Lymphopenia, Splenomegaly, Recurrent tonsillitis, Hepatosplenomeg...	OMIM:618935
Kimura Disease	Eosinophilia, Follicular hyperplasia, Increased circulating IgE level, Lymphadenopathy	ORPHA:482
Senior-Loken Syndrome 8	Pallor, Pancreatic cysts, Intrahepatic bile duct dilatation, Hepatic cysts	OMIM:616307
Intellectual Developmental Disorder, Autosomal Recessive 5	Thick eyebrow, Sparse hair, Eczema, Elevated circulating creatine kinase concentration, Synophrys	OMIM:611091
Lipodystrophy, Congenital Generalized, Type 4	Decreased circulating IgA level, Hirsutism, Hepatomegaly, Splenomegaly, Acanthosis nigricans, Ele...	OMIM:613327
Immunodeficiency 59 And Hypoglycemia	Hepatomegaly, Herpes simplex encephalitis, Recurrent skin infections, Acne inversa, Sepsis, Recur...	OMIM:233600
Moynahan Syndrome	Hyperkeratosis, Sparse hair, Alopecia	ORPHA:2574
Agammaglobulinemia 9, Autosomal Recessive	Eczematoid dermatitis, Recurrent bacterial infections, Absent circulating B cells, Seborrheic der...	OMIM:619693
Idiopathic Chronic Eosinophilic Pneumonia	Elevated circulating C-reactive protein concentration, Leukocytosis, Atopic dermatitis, Hypereosi...	ORPHA:2902
Autoimmune Hepatitis	Increased circulating antibody level, Viral hepatitis, Splenomegaly, Cirrhosis, Hepatocellular ca...	ORPHA:2137
Cyclic Vomiting Syndrome	Pallor, Cardiomyopathy	OMIM:500007
Keratoderma Hereditarium Mutilans With Ichthyosis	Congenital nonbullous ichthyosiform erythroderma, Orthokeratosis, Parakeratosis, Alopecia, Palmop...	ORPHA:79395
Proteus Syndrome	Lymphangioma, Hyperkeratosis, Splenomegaly	OMIM:176920
Familial Focal Epilepsy With Variable Foci	Pallor	ORPHA:98820
Congenital Enterovirus Infection	Leukocytosis, Hyperammonemia, Skin rash, Leukopenia, Hydrops fetalis, Sepsis, Cholestasis, Abnorm...	ORPHA:292
Immunodeficiency 47	Exocrine pancreatic insufficiency, Hepatomegaly, Cholestasis, Hepatic bridging fibrosis, Prolonge...	OMIM:300972
Igg4-Related Aortitis	Increased circulating antibody level, Elevated circulating C-reactive protein concentration, Comp...	ORPHA:449400
Systemic-Onset Juvenile Idiopathic Arthritis	Joint swelling, Elevated circulating C-reactive protein concentration, Hepatomegaly, Skin rash, S...	ORPHA:85414
Trichothiodystrophy 5, Nonphotosensitive	Sparse hair, Brittle hair, Tiger tail banding, Decreased circulating antibody level, Recurrent in...	OMIM:300953
Papillon-Lefèvre Syndrome	Periodontitis, Chronic furunculosis, Hypertrichosis, Pustule, Generalized hirsutism, Recurrent sk...	ORPHA:678
Flynn-Aird Syndrome	Hyperkeratosis, Alopecia of scalp, Alopecia	OMIM:136300
Idiopathic Pulmonary Hemosiderosis	Hepatomegaly, Pallor, Hepatosplenomegaly, Heart murmur, Diffuse alveolar hemorrhage	ORPHA:99931
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 2	Pallor	OMIM:608423
Leukoencephalopathy, Arthritis, Colitis, And Hypogammaglobulinema	Chronic gastritis, Colitis, Decreased circulating IgG level, Eczema, Inflammation of the large in...	OMIM:608809
Q Fever	Hepatomegaly, Maculopapular exanthema, Myocarditis, Pneumonia, Pericarditis, Lymphadenopathy, Inc...	ORPHA:781
Thumb Deformity-Alopecia-Pigmentation Anomaly Syndrome	Sparse hair, Alopecia, Onychogryposis of fingernail, Fingernail dysplasia, Ridged fingernail, Pal...	ORPHA:2251
Olmsted Syndrome 1	Nail dysplasia, Alopecia universalis, Sparse hair, Subungual hyperkeratosis, Nail dystrophy, Prur...	OMIM:614594
Infantile Cataract, Skin Abnormalities, Glutamate Excess, And Impaired Intellectual Development	Hyperkeratosis	OMIM:618339
Olmsted Syndrome, X-Linked	Blepharitis, Posterior blepharitis, Subungual hyperkeratosis, Palmoplantar hyperkeratosis, Alopec...	OMIM:300918
Immunodeficiency 81	Impaired collagen-induced platelet aggregation, Skin rash, Abnormally low T cell receptor excisio...	OMIM:619374
Monilethrix	Abnormal eyebrow morphology, Sparse hair, Brittle hair, Patchy alopecia, Follicular hyperkeratosi...	ORPHA:573
Trichothiodystrophy 9, Nonphotosensitive	Sparse hair, Sparse eyebrow, Tiger tail banding, Ichthyosis, Nail dystrophy	OMIM:619692
Hypotrichosis 6	Pili torti, Sparse hair, Brittle hair, Sparse eyelashes, Sparse eyebrow, Follicular hyperkeratosi...	OMIM:607903
Pneumocystosis	Increased circulating antibody level, Chronic oral candidiasis, Interstitial pneumonitis, Acute i...	ORPHA:723
Hemosiderosis, Pulmonary, With Deficiency Of Gamma-A Globulin	Decreased circulating IgA level	OMIM:235500
Keratoderma Hereditarium Mutilans	Alopecia, Hyperkeratosis, Ichthyosis, Abnormal toenail morphology, Honeycomb palmoplantar hyperke...	ORPHA:494
Lipoid Proteinosis Of Urbach And Wiethe	Hyperkeratosis, Patchy alopecia, Thickened skin	OMIM:247100
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome	Hepatomegaly, Elevated circulating C-reactive protein concentration, Eczema, Pancytopenia, Bone m...	OMIM:615688
Chédiak-Higashi Syndrome	Increased circulating ferritin concentration, Hemophagocytosis, Increased proportion of CD25+ mas...	ORPHA:167
Kid Syndrome	Keratitis, Sparse hair, Sparse eyebrow, Acne inversa, Sepsis, Punctate keratitis, Onychogryposis,...	ORPHA:477
Meige Disease	Predominantly lower limb lymphedema, Recurrent bacterial skin infections, Facial edema, Recurrent...	ORPHA:90186
Acquired Idiopathic Sideroblastic Anemia	Hepatomegaly, Splenomegaly, Pallor, Abnormal bleeding, Congestive heart failure	ORPHA:75564
Erythema Elevatum Diutinum	Increased circulating antibody level, Skin rash	ORPHA:90000
Majeed Syndrome	Anemia of inadequate production, Decreased mean corpuscular volume, Joint swelling, Osteomyelitis...	OMIM:609628
Macrocephaly/Autism Syndrome	Lymphopenia, Hepatomegaly, Splenomegaly, Decreased circulating antibody level, Recurrent infections	OMIM:605309
Autoinflammatory Disease, Systemic, X-Linked	Osteomyelitis, Decreased circulating IgG level, Panuveitis, Optic neuritis, Decreased circulating...	OMIM:301081
Indolent Systemic Mastocytosis	Abnormal mast cell morphology, Hepatomegaly, Skin rash, Splenomegaly, Maculopapular exanthema, Ma...	ORPHA:98848
Poems Syndrome	Increased circulating antibody level, Hypertrichosis, Leukonychia, Abnormality of skin physiology...	ORPHA:2905
Gaucher Disease Type 1	Increased circulating antibody level, Hepatomegaly, Splenomegaly, Cirrhosis, Leukopenia, Osteoart...	ORPHA:77259
Oliver-Mcfarlane Syndrome	Long eyebrows, Long eyelashes, Sparse hair, Alopecia	OMIM:275400
Diamond-Blackfan Anemia 4	Neutropenia, Erythroid hypoplasia, Reticulocytopenia, Macrocytic anemia	OMIM:612527
Congenital Disorder Of Glycosylation, Type Iq	Hypertrichosis, Eczema, Ichthyosis, Microcytic anemia, Hyperkeratosis	OMIM:612379
Autoimmune Disease, Multisystem, With Facial Dysmorphism	Decreased circulating IgA level, Hepatomegaly, Splenomegaly, Hepatitis, Hashimoto thyroiditis, Po...	OMIM:613385
Good Syndrome	Abnormal leukocyte morphology, Thymoma, Sinusitis, Recurrent skin infections, Recurrent urinary t...	ORPHA:169105
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency	Hepatomegaly, Leukocytosis, Splenomegaly, Hypoproteinemia, Lymphadenitis, Elevated circulating cr...	OMIM:615895
Pyoderma Gangrenosum	Increased circulating antibody level, Pustule, Rheumatoid arthritis, Myeloid leukemia, Inflammati...	ORPHA:48104
Ichthyosis Prematurity Syndrome	Follicular hyperkeratosis, Polyhydramnios, Allergic rhinitis, Pruritus, Erythroderma, Generalized...	OMIM:608649
Ectodermal Dysplasia And Immunodeficiency 2	Recurrent infection of the gastrointestinal tract, Sparse hair, Hypohidrosis, Anhidrosis, Aplasia...	OMIM:612132
Leukocyte Adhesion Deficiency, Type Iii	Hepatomegaly, Leukocytosis, Splenomegaly, Extramedullary hematopoiesis, Abnormality of the lymph ...	OMIM:612840
Dyskeratosis Congenita, Digenic	Decreased circulating IgA level, Decreased circulating IgG level, Alopecia, Sparse eyelashes, Dec...	OMIM:620040
Idiopathic Trachyonychia	Nail pits, Patchy alopecia, Toenail dysplasia, Abnormality of the periungual region, Fragile nail...	ORPHA:79153
Autoinflammatory-Pancytopenia Syndrome	Cholestatic liver disease, Hemophagocytosis, Intestinal inflammation, Hepatosplenomegaly, Membran...	OMIM:619858
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities	Abnormal reticulocyte morphology, Anisocytosis, Macrocytic anemia, Poikilocytosis, Increased hemo...	OMIM:300835
Pityriasis Rubra Pilaris	Pustule, Eczema, Subungual hyperkeratosis, Ichthyosis, Pruritus, Erythroderma, Palmoplantar kerat...	ORPHA:2897
Intermediate Generalized Junctional Epidermolysis Bullosa	Sparse body hair, Anonychia, Nail dystrophy, Palmoplantar keratoderma, Anemia, Scarring alopecia ...	ORPHA:79402
Cyclic Neutropenia	Periodontitis, Sinusitis, Lymphopenia, Enterocolitis, Recurrent tonsillitis, Cervical lymphadenop...	ORPHA:2686
Trichohepatoenteric Syndrome 2	Colitis, Hepatomegaly, Sparse hair, Woolly hair, Brittle hair, Cirrhosis, Chronic hepatitis, Tric...	OMIM:614602
Chromomycosis	Keratitis, Predominantly lower limb lymphedema, Hyperkeratotic papule, Recurrent bacterial infect...	ORPHA:182
Lipoid Proteinosis	Pustule, Alopecia of scalp, Hyperkeratosis, Acne, Recurrent respiratory infections, Thickened skin	ORPHA:530
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome	Thyroiditis, Neutropenia in presence of anti-neutropil antibodies, Lymphopenia, Inflammatory abno...	ORPHA:391487
Glycogen Storage Disease Due To Lactate Dehydrogenase M-Subunit Deficiency	Pustule, Elevated creatine kinase after exercise, Superficial dermal perivascular inflammatory in...	ORPHA:284426
Bone Marrow Failure Syndrome 3	Exocrine pancreatic insufficiency, Sparse hair, Aplasia/Hypoplasia of the eyebrow, Eczema, Aplast...	OMIM:617052
Aspergillosis	Keratitis, Bronchiectasis, Sinusitis, Osteomyelitis, Unusual CNS infection, Invasive pulmonary as...	ORPHA:1163
Familial Cold Autoinflammatory Syndrome 1	Elevated circulating C-reactive protein concentration, Skin rash, Leukocytosis, Arthritis, Uveiti...	OMIM:120100
Noonan Syndrome 8	Left ventricular hypertrophy, Eczema, Polyhydramnios, Hyperkeratosis, Pleural effusion, Webbed ne...	OMIM:615355
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome	Alopecia, Abnormality of the periungual region, Severe B lymphocytopenia, Sepsis, Autoimmune thro...	ORPHA:293978
Immunodeficiency 17	Recurrent gastroenteritis, Recurrent otitis media, Chronic oral candidiasis, Eczema, T lymphocyto...	OMIM:615607
Car T Cell Therapy-Associated Cytokine Release Syndrome	Abnormality of interleukin secretion, Increased circulating interleukin 6 concentration, Pulmonar...	ORPHA:542323
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia	Pallor, Hepatosplenomegaly	OMIM:611590
Inflammatory Skin And Bowel Disease, Neonatal, 1	Blepharitis, Pustule, Paronychia, Onychogryposis, Erythroderma, Increased circulating IgE level	OMIM:614328
Ebola Hemorrhagic Fever	Increased circulating antibody level, Lymphopenia, Maculopapular exanthema, Leukopenia, Sepsis, A...	ORPHA:319218
Retinitis Pigmentosa 51	Pallor	OMIM:613464
Ectodermal Dysplasia, Trichoodontoonychial Type	Sparse hair, Sparse body hair, Aplasia/Hypoplasia of the eyebrow, Abnormal eyelash morphology, Ab...	ORPHA:1818
Bacterial Toxic-Shock Syndrome	Sepsis, Abscess, Myocarditis, Severe viral infection, Elevated circulating creatinine concentrati...	ORPHA:36234
Kyphoscoliotic Ehlers-Danlos Syndrome Due To Fkbp22 Deficiency	Elevated circulating creatine kinase concentration, Follicular hyperkeratosis	ORPHA:300179
Schopf-Schulz-Passarge Syndrome	Sparse hair, Onycholysis, Ridged nail, Narrow nail, Poroma, Palmoplantar keratoderma, Apocrine hi...	OMIM:224750
Hypohidrotic Ectodermal Dysplasia	Sinusitis, Abnormal hair quantity, Aplasia/Hypoplasia of the eyebrow, Eczema, Xerostomia, Trichor...	ORPHA:238468
Xq28 (MECP2) duplication	Decreased circulating IgA level, Recurrent respiratory infections	DECIPHER:45
Brucellosis	Hepatomegaly, Elevated circulating C-reactive protein concentration, Myocarditis, Epididymitis, H...	ORPHA:1304
Inflammatory Skin And Bowel Disease, Neonatal, 2	Pustule, Dehydration, Long eyelashes, Recurrent pneumonia, Edema, Recurrent bronchiolitis	OMIM:616069
Hereditary Spherocytosis	Cholelithiasis, Hepatomegaly, Splenomegaly, Pallor, Restrictive cardiomyopathy, Skin ulcer, Jaundice	ORPHA:822
Granulomatous Disease, Chronic, Autosomal Recessive, 1	Discoid lupus rash, Recurrent bacterial skin infections, Eczematoid dermatitis, Hepatomegaly, Ost...	OMIM:233700
Granulomatous Disease, Chronic, Autosomal Recessive, 2	Discoid lupus rash, Recurrent bacterial skin infections, Eczematoid dermatitis, Hepatomegaly, Ost...	OMIM:233710
Aregenerative Anemia	Abnormality of interleukin secretion, Abnormal proportion of CD8-positive T cells, Neutropenia, E...	ORPHA:101096
Idiopathic Non-Lupus Full-House Nephropathy	Skin rash, Decreased serum complement C3, Complement deficiency, Decreased serum complement C4, A...	ORPHA:567544
Neutrophilic Dermatosis, Acute Febrile	Cystic acne, Increased circulating interleukin 6 concentration, Elevated circulating C-reactive p...	OMIM:608068
Cardiomyopathy, Dilated, With Woolly Hair, Keratoderma, And Tooth Agenesis	Leukonychia, Woolly hair, Fragile nails, Ichthyosis, Hyperkeratosis, Nail dystrophy, Pruritus, Pa...	OMIM:615821
Erythrokeratodermia Variabilis Et Progressiva 3	Palmoplantar keratoderma, Hyperkeratosis, Hypergranulosis	OMIM:617525
Majeed Syndrome	Osteomyelitis, Hepatomegaly, Inflammatory abnormality of the skin, Leukocytosis, Congenital hypop...	ORPHA:77297
Smith-Kingsmore Syndrome	Decreased circulating IgA level, Thrombocytopenia, Curly hair	OMIM:616638
Letterer-Siwe Disease	Pallor, Hepatosplenomegaly, Jaundice	OMIM:246400
Erythrokeratodermia Variabilis Et Progressiva 4	Congenital nonbullous ichthyosiform erythroderma, Hyperkeratosis, Palmoplantar hyperkeratosis	OMIM:617526
Retinitis Pigmentosa 75	Pallor	OMIM:617023
Cronkhite-Canada Syndrome	Hypoplastic toenails, Hepatomegaly, Patchy alopecia, Alopecia, Splenomegaly, Sparse body hair, Ap...	ORPHA:2930
Immunodeficiency 100 With Pulmonary Alveolar Proteinosis And Hypogammaglobulinemia	Leukocytosis, Splenomegaly, Intraalveolar phospholipid accumulation, Decreased circulating antibo...	OMIM:618042
Chondroitin-6-Sulfaturia, Defective Cellular Immunity, Nephrotic Syndrome

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