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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	Leukocytosis, Hyponatremia, Neutrophilia, Elevated circulating C-reactive protein concentration, ...	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	Recurrent viral infections, Increased circulating IgE level, Lymphopenia, Hepatosplenomegaly, Dec...	ORPHA:169154
Immunodeficiency 64 With Lymphoproliferation	Increased proportion autoreactive unresponsive CD21-/low B cells, Decreased circulating IgG level...	OMIM:618534
Immunodeficiency 15B	Decreased lymphocyte proliferation in response to mitogen, Reduced natural killer cell count, Aga...	OMIM:615592
Ras-Associated Autoimmune Leukoproliferative Disorder	Recurrent respiratory infections, Pancytopenia, Hemolytic anemia, Follicular hyperplasia, Splenom...	OMIM:614470
Proteasome-Associated Autoinflammatory Syndrome 2	Periorbital edema, Decreased proportion of memory B cells, Recurrent viral infections, Abnormal c...	OMIM:618048
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome	Hepatomegaly, Pallor, Splenomegaly	ORPHA:46532
Immunodeficiency 14B, Autosomal Recessive	Decreased circulating IgG level, Inflammation of the large intestine, Recurrent pneumonia, Reduce...	OMIM:619281
Immunodeficiency 10	Decreased circulating IgG level, Recurrent pneumonia, Sepsis, Recurrent urinary tract infections,...	OMIM:612783
Immunodeficiency With Hyper-Igm, Type 1	Enteroviral encephalitis, Increased circulating IgA level, Cirrhosis, Neutropenia, Hepatomegaly, ...	OMIM:308230
Immunodeficiency 25	Recurrent pneumonia, Recurrent candida infections, Increased circulating IgE level, Complete or n...	OMIM:610163
Diamond-Blackfan Anemia 18	Erythroid hypoplasia, Neutropenia, Steroid-responsive anemia	OMIM:618310
Hypohidrotic Ectodermal Dysplasia With Immunodeficiency	Inflammation of the large intestine, Increased circulating IgE level, Recurrent otitis media, Abn...	ORPHA:98813
Sting-Associated Vasculopathy, Infantile-Onset	Pustular rash, Recurrent respiratory infections, Lymphopenia, Leukopenia, Malar rash, Skin rash, ...	OMIM:615934
Immunodeficiency 89 And Autoimmunity	Reduced circulating interleukin 17A concentration, Reduced circulating interleukin 27 concentrati...	OMIM:619632
Adult Idiopathic Neutropenia	Lymphopenia, Recurrent aphthous stomatitis, Helicobacter pylori infection, Recurrent fungal infec...	ORPHA:2688
Autoimmune Lymphoproliferative Syndrome, Type Iia	Follicular hyperplasia, Increased circulating IgA level, Hepatomegaly, Autoimmune thrombocytopeni...	OMIM:603909
Immunodeficiency 102	Decreased proportion of CD4-positive helper T cells, Hepatomegaly, Recurrent lower respiratory tr...	OMIM:301082
Autoimmune Lymphoproliferative Syndrome	Reduced delayed hypersensitivity, Chronic noninfectious lymphadenopathy, Follicular hyperplasia, ...	OMIM:601859
Immunodeficiency 52	Persistent CMV viremia, Recurrent pneumonia, Increased proportion of gamma-delta T cells, Lymphop...	OMIM:617514
Neutropenia, Severe Congenital, 1, Autosomal Dominant	Acute monocytic leukemia, Congenital agranulocytosis, Thrombocytosis, Increased circulating antib...	OMIM:202700
Caspase 8 Deficiency	Pneumonia, Decreased circulating IgG level, Eczematoid dermatitis, Decreased circulating IgA leve...	OMIM:607271
Pgm3-Cdg	Allergic rhinitis, Recurrent viral infections, Abnormal CD4:CD8 ratio, Increased circulating IgE ...	ORPHA:443811
Hyper-Ige Syndrome 5, Autosomal Recessive, With Recurrent Infections	Decreased circulating IgG level, Atopic dermatitis, Recurrent upper respiratory tract infections,...	OMIM:618944
Histiocytosis, Familial Lipochrome	Recurrent infections, Histiocytosis, Increased alpha-globulin, Increased circulating antibody level	OMIM:235900
Immunodeficiency 91 And Hyperinflammation	Recurrent pneumonia, Severe viral infection, Hemophagocytosis, Hepatosplenomegaly, Pleural effusi...	OMIM:619644
Severe Combined Immunodeficiency, X-Linked	Pneumonia, Decreased circulating IgG level, Recurrent pneumonia, Reduced natural killer cell acti...	OMIM:300400
Immunodeficiency 51	Pneumonia, Folliculitis, Chronic mucocutaneous candidiasis, Eczematoid dermatitis, Cutaneous absc...	OMIM:613953
Immunodeficiency 50	Lymphopenia, Eczematoid dermatitis, Neutropenia	OMIM:300988
Immunodeficiency 97 With Autoinflammation	Hemophagocytosis, Recurrent otitis media, Lymphopenia, Hepatosplenomegaly, Decreased proportion o...	OMIM:619802
Immunodeficiency 112	Decreased circulating IgG level, Reduced natural killer cell count, Recurrent viral infections, C...	OMIM:620449
Autoinflammation With Arthritis And Dyskeratosis	Hypereosinophilia, Splenomegaly, Autoimmune hemolytic anemia, Punctate keratitis, Hepatomegaly, K...	OMIM:617388
Chronic Myeloid Leukemia	Abnormal granulocyte morphology, Leukocytosis, Splenomegaly, Abnormal basophil morphology, Thromb...	ORPHA:521
Immunodeficiency, Common Variable, 2	Decreased circulating IgG level, Recurrent pneumonia, Abnormal T cell count, Impaired T cell func...	OMIM:240500
Immunodeficiency 113 With Autoimmunity And Autoinflammation	Minimal change glomerulonephritis, Recurrent viral infections, Intraalveolar phospholipid accumul...	OMIM:620565
Immunodeficiency 105	Decreased circulating IgG level, Reduced natural killer cell count, Absence of lymph node germina...	OMIM:619924
Immunodeficiency 18	Recurrent pneumonia, Reduced natural killer cell count, Recurrent otitis media, Lymphopenia, Abno...	OMIM:615615
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency	Lymphopenia, Lymph node hypoplasia, Decreased proportion of CD4-positive helper T cells, Abnormal...	ORPHA:276
Neutropenia, Severe Congenital, 7, Autosomal Recessive	Neutropenia	OMIM:617014
Immunodeficiency, Common Variable, 3	Abnormal T cell count, Chronic decreased circulating total IgG, Recurrent otitis media, Decreased...	OMIM:613493
Immunodeficiency, Common Variable, 1	Pneumonia, Decreased circulating IgG level, Recurrent pneumonia, Abnormal T cell count, Impaired ...	OMIM:607594
Autoinflammation, Panniculitis, And Dermatosis Syndrome	Leukocytosis, Skin rash, Joint swelling, Increased proportion of CD4-positive T cells, Increased ...	OMIM:617099
Autoimmune Lymphoproliferative Syndrome	Increased circulating IgE level, Lymphopenia, Hypersplenism, Decreased proportion of CD4-positive...	ORPHA:3261
Autoimmune Lymphoproliferative Syndrome, Type Iii	Increased proportion autoreactive unresponsive CD21-/low B cells, Decreased proportion of memory ...	OMIM:615559
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant	Decreased specific pneumococcal antibody level, Decreased circulating IgG2 level, Splenomegaly, T...	OMIM:615513
Trichothiodystrophy 3, Photosensitive	Congenital ichthyosiform erythroderma, Trichorrhexis nodosa, Lymphopenia, Tiger tail banding, Ich...	OMIM:616395
Immunodeficiency 115 With Autoinflammation	Hypoalbuminemia, Decreased circulating IgG level, Recurrent viral infections, Eczematoid dermatit...	OMIM:620632
Agammaglobulinemia 4, Autosomal Recessive	Decreased circulating IgG level, Recurrent pneumonia, Recurrent otitis media, Decreased circulati...	OMIM:613502
Agammaglobulinemia 2, Autosomal Recessive	Recurrent pneumonia, Recurrent otitis media, Decreased circulating IgA level, Recurrent bacterial...	OMIM:613500
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity	Recurrent viral infections, Decreased lymphocyte proliferation in response to anti-CD3, Increased...	OMIM:606367
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta	Pneumonia, Decreased circulating IgG level, Recurrent pneumonia, Recurrent infections, Decreased ...	ORPHA:169160
Lymphoproliferative Syndrome, X-Linked, 2	Inflammation of the large intestine, Folliculitis, Aplastic anemia, Hepatitis, Recurrent respirat...	OMIM:300635
Neutropenia, Lethal Congenital, With Eosinophilia	Eosinophilia, Neutropenia	OMIM:257100
Hyper-Ige Syndrome 3, Autosomal Recessive, With Recurrent Infections	Atopic dermatitis, Recurrent pneumonia, Alopecia, Eczematoid dermatitis, Cutaneous abscess, Chron...	OMIM:618282
Immunodeficiency 33	Pneumocystis jirovecii pneumonia, Disseminated nontuberculous mycobacterial infection, Recurrent ...	OMIM:300636
Iga Pemphigus	Cutaneous abscess, Neutrophilic infiltration of the skin, Pustule, Eosinophilia, Increased circul...	ORPHA:555905
Immunodeficiency 103, Susceptibility To Fungal Infections	Decreased circulating iron concentration, Abnormal natural killer cell count, Increased circulati...	OMIM:212050
Thrombocytopenia With Elevated Serum Iga And Renal Disease	Increased circulating IgA level, Glomerulonephritis, Thrombocytopenia	OMIM:314000
Immunodeficiency 72 With Autoinflammation And Lymphoproliferation	Herpes simplex encephalitis, Increased circulating IgE level, Molluscum contagiosum, Recurrent ot...	OMIM:618982
Immunodeficiency With Hyper-Igm, Type 3	Decreased circulating IgG level, Impaired memory B cell generation, Absence of lymph node germina...	OMIM:606843
Familial Hemophagocytic Lymphohistiocytosis	Hemophagocytosis, Erythroderma, Neutropenia, Reduced natural killer cell activity, Hepatomegaly, ...	ORPHA:540
Macrophage Activation Syndrome	Hypoalbuminemia, Abnormal circulating interleukin concentration, Hepatitis, Abnormality of tumor ...	ORPHA:158061
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia	Persistent CMV viremia, Recurrent viral infections, Decreased specific anti-polysaccharide antibo...	OMIM:300853
Neutropenia, Severe Congenital, 2, Autosomal Dominant	B lymphocytopenia, Neutropenia, Monocytosis	OMIM:613107
Neutropenia, Nonimmune Chronic Idiopathic, Of Adults	Acute myeloid leukemia, Neutropenia	OMIM:607847
Immunodeficiency With Hyper-Igm, Type 2	Decreased circulating IgG level, Decreased circulating IgA level, Complete or near-complete absen...	OMIM:605258
Immunodeficiency 78 With Autoimmunity And Developmental Delay	Persistent CMV viremia, Fluctuating splenomegaly, Recurrent otitis media, Autoimmune hemolytic an...	OMIM:619220
Autosomal Dominant Severe Congenital Neutropenia	Pneumonia, Recurrent viral infections, Periodontitis, Aplastic anemia, Leukemia, Lymphopenia, Rec...	ORPHA:486
Immunodeficiency, Common Variable, 7	Decreased specific pneumococcal antibody level, Decreased circulating total IgG, Recurrent respir...	OMIM:614699
B-Cell Expansion With Nfkb And T-Cell Anergy	Decreased specific antibody response to polysaccharide vaccine, Decreased circulating IgA level, ...	OMIM:616452
Immunodeficiency 32B	Pneumonia, Hypoalbuminemia, Neutrophilia, BCGitis, Recurrent respiratory infections, Impaired oxi...	OMIM:226990
Hyper-Igd Syndrome	Recurrent infections, Neutrophilia, Lymphadenitis, Molluscum contagiosum, Hepatosplenomegaly, Leu...	OMIM:260920
Chilblain Lupus	Discoid lupus rash, Inflammatory abnormality of the skin, Chronic myelomonocytic leukemia, Malar ...	ORPHA:90280
Immunodeficiency With Hyper-Igm, Type 5	Decreased circulating IgG level, Decreased circulating IgA level, Impaired Ig class switch recomb...	OMIM:608106
Netherton Syndrome	Allergic rhinitis, Decreased circulating IgG level, Brittle scalp hair, Sepsis, Sparse eyebrow, E...	OMIM:256500
Acute Peripheral Arterial Occlusion	Abnormal capillary physiology, Supraventricular tachycardia, Pallor, Abnormality of venous physio...	ORPHA:90064
Ectodermal Dysplasia And Immunodeficiency 1	Sparse hair, Lymphedema, Molluscum contagiosum, Reduced natural killer cell activity, Abnormal ci...	OMIM:300291
Agammaglobulinemia 8B, Autosomal Recessive	Decreased circulating IgG level, Partial absence of specific antibody response to tetanus vaccine...	OMIM:619824
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation	Atrophic gastritis, Decreased circulating IgG level, Recurrent upper respiratory tract infections...	OMIM:616100
Agammaglobulinemia 6, Autosomal Recessive	Decreased circulating IgG level, Recurrent pneumonia, Recurrent otitis media, Decreased circulati...	OMIM:612692
Autoimmune Disease, Multisystem, Infantile-Onset, 3	Decreased specific pneumococcal antibody level, Partial absence of specific antibody response to ...	OMIM:620430
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia	Lymphadenitis, Decreased lymphocyte proliferation in response to anti-CD3, Recurrent otitis media...	OMIM:618986
Immunodeficiency 48	Pneumonia, Pneumocystis carinii pneumonia, Eczematoid dermatitis, Recurrent candida infections, P...	OMIM:269840
Kerion Celsi	Alopecia, Inflammatory abnormality of the skin, Lymphadenopathy, Recurrent skin infections, Recur...	ORPHA:499
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency	Recurrent pneumonia, Inflammatory abnormality of the skin, Recurrent upper respiratory tract infe...	ORPHA:277
Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency	Inflammation of the large intestine, Psoriasiform dermatitis, Hepatomegaly, Recurrent lower respi...	ORPHA:436159
Dissecting Cellulitis Of The Scalp	Abnormal hair morphology, Pruritus, Recurrent skin infections, Edema	ORPHA:345
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency	Recurrent viral infections, Lymphadenitis, Recurrent enteroviral infections, Lymphopenia, Hepatos...	ORPHA:331206
Acne Inversa, Familial, 3	Chronic furunculosis, Perifolliculitis, Acne inversa, Recurrent cutaneous abscess formation	OMIM:613737
Lymphoproliferative Syndrome, X-Linked, 1	Aplastic anemia, Hemophagocytosis, Pancytopenia, Abnormal B cell count, Neutropenia, Recurrent ph...	OMIM:308240
Myeloproliferative/Lymphoproliferative Neoplasms, Familial (Multiple Types), Susceptibility To	Bone marrow hypocellularity, Eczematoid dermatitis, Leukopenia, Acute myeloid leukemia, Monocytos...	OMIM:616871
Agammaglobulinemia 10, Autosomal Dominant	Decreased circulating IgG level, Decreased circulating IgA level, Transient neutropenia, Recurren...	OMIM:619707
Immunodeficiency 11A	Decreased proportion of CD4+CD25+ regulatory T cells, Pneumocystis jirovecii pneumonia, Agammaglo...	OMIM:615206
Immunodeficiency 60 And Autoimmunity	Decreased proportion of memory B cells, Bronchiectasis, Pancytopenia, Splenomegaly, Crohn's disea...	OMIM:618394
Neutropenia, Chronic Familial	Periodontitis, Neutropenia, Increased circulating antibody level	OMIM:162700
Classic Mycosis Fungoides	Alopecia, Eczematoid dermatitis, Abnormal lymphocyte morphology, Skin rash, Splenomegaly, Lymphad...	ORPHA:2584
Neutropenia, Severe Congenital, X-Linked	Monocytopenia, Decreased CD4:CD8 ratio, Eczematoid dermatitis, Neutropenia	OMIM:300299
X-Linked Sideroblastic Anemia	Elevated circulating hepatic transaminase concentration, Pallor, Splenomegaly	ORPHA:75563
Immunodeficiency 53	Recurrent pneumonia, Recurrent upper respiratory tract infections, Recurrent urinary tract infect...	OMIM:617585
Immunodeficiency 36 With Lymphoproliferation	Persistent CMV viremia, Decreased circulating IgG level, Recurrent upper respiratory tract infect...	OMIM:616005
Immunodeficiency 85 And Autoimmunity	Decreased circulating IgG level, Decreased proportion of memory B cells, Reduced natural killer c...	OMIM:619510
Immunodeficiency 104	Pneumonia, Chronic mucocutaneous candidiasis, Eczematoid dermatitis, Failure to thrive secondary ...	OMIM:608971
Hypotrichosis Simplex Of The Scalp	Allergic rhinitis, Atopic dermatitis, Sparse scalp hair, Fine hair, Increased circulating IgE lev...	ORPHA:90368
Severe Combined Immunodeficiency Due To Dclre1C Deficiency	Decreased circulating IgG level, Recurrent mycobacterial infections, Recurrent viral infections, ...	ORPHA:275
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity	Persistent CMV viremia, Recurrent urinary tract infections, Recurrent otitis media, Decreased CD4...	OMIM:618495
Agammaglobulinemia 7, Autosomal Recessive	Recurrent infections, Reduced natural killer cell count, Panhypogammaglobulinemia, Abnormal T cel...	OMIM:615214
Immunodeficiency 70	Decreased circulating total IgG, Decreased proportion of CD4-positive helper T cells, Recurrent s...	OMIM:618969
Immunodeficiency 88	Eosinophilia	OMIM:619630
Felty Syndrome	Rheumatoid arthritis, Splenomegaly, Neutropenia	OMIM:134750
Proteasome-Associated Autoinflammatory Syndrome 1	Increased circulating interleukin 8 concentration, Premature graying of hair, Recurrent otitis me...	OMIM:256040
Immunodeficiency 95	Decreased circulating IgG3 level, Recurrent viral pneumonia, Lymphopenia, Recurrent viral upper r...	OMIM:619773
Immunodeficiency, partial combined, with absence of hla determinantsand beta-2-microglobulin from lymphocytes	Recurrent bacterial infections, Decreased circulating IgG level, T lymphocytopenia, Recurrent can...	OMIM:242870
Hypotrichosis 1	Sparse pubic hair, Sparse eyebrow, Sparse body hair, Sparse eyelashes, Sparse axillary hair, Spar...	OMIM:605389
Immunodeficiency By Defective Expression Of Mhc Class Ii	Abnormality of humoral immunity, Recurrent viral infections, Abnormal CD4:CD8 ratio, Pancytopenia...	ORPHA:572
Immunodeficiency 44	Post-vaccination measles, Severe viral infection, Lymphopenia, Decreased circulating IgA level, A...	OMIM:616636
Aquagenic Palmoplantar Keratoderma	Atopic dermatitis, Palmoplantar keratoderma, Orthokeratotic hyperkeratosis, Recurrent sinopulmona...	ORPHA:498359
Palmoplantar Keratoderma, Norrbotten Recessive Type	Recurrent cutaneous fungal infections, Palmoplantar keratoderma, Hyperkeratosis	OMIM:244850
Immunoglobulin A Deficiency 2	Abnormal lymphocyte morphology, Decreased circulating IgA level, Recurrent infection of the gastr...	OMIM:609529
Aicardi-Goutieres Syndrome 6	Splenomegaly, Chilblains, Increased circulating Interferon-alpha concentration, Thrombocytopenia,...	OMIM:615010
Activated Pi3K-Delta Syndrome	Pneumonia, Recurrent tonsillitis, Recurrent otitis media, Decreased circulating antibody level, S...	ORPHA:397596
Angiostrongyliasis	Unusual CNS infection, Hypereosinophilia, Increased circulating specific IgE antibody, Increased ...	ORPHA:74
Immunodeficiency 27A	Pneumonia, Hypoalbuminemia, Enlarged mesenteric lymph node, Hepatosplenomegaly, Leukocytosis, Spl...	OMIM:209950
Wiskott-Aldrich Syndrome	Inflammation of the large intestine, Increased circulating IgE level, Recurrent otitis media, Abn...	OMIM:301000
Hyper-Ige Syndrome 4A, Autosomal Dominant, With Recurrent Infections	Decreased circulating IgG level, Recurrent pneumonia, Atopic dermatitis, Recurrent upper respirat...	OMIM:619752
Hidrotic Ectodermal Dysplasia	Thickened skin, Small nail, Sparse eyelashes, Absent eyebrow, Absent axillary hair, Sparse hair, ...	ORPHA:189
Postinfectious Vasculitis	Abnormality of humoral immunity, Inflammatory abnormality of the skin, Increased circulating anti...	ORPHA:48435
Sweet Syndrome	Abnormal circulating interleukin concentration, Inflammation of the large intestine, Acne inversa...	ORPHA:3243
Tularemia	Pneumonia, Brain abscess, Cutaneous abscess, Cervical lymphadenopathy, Abnormal nasopharyngeal ad...	ORPHA:3392
Juvenile Temporal Arteritis	Allergic rhinitis, Conjunctivitis, Eosinophilia, Leukocytosis	ORPHA:26137
Cone-Rod Dystrophy 11	Pallor	OMIM:610381
Methylmalonic Acidemia With Homocystinuria, Type Cbld	Pallor	ORPHA:79283
Evans Syndrome	Epistaxis, Bruising susceptibility, Pallor, Petechiae, Syncope, Jaundice	ORPHA:1959
Immunodeficiency 43	Hypoalbuminemia, Decreased circulating IgG level, Reduced natural killer cell count, Decreased sp...	OMIM:241600
Ichthyosis, Congenital, Autosomal Recessive 13	Hypergranulosis, Ichthyosis, Onychomycosis, Palmoplantar hyperkeratosis, Hyperkeratosis	OMIM:617574
Asthma, Short Stature, And Elevated Iga	Increased circulating IgA level	OMIM:208600
Selective Igm Deficiency	Allergic rhinitis, Rheumatoid arthritis, Lymphadenitis, Decreased proportion of CD8-positive T ce...	ORPHA:331235
Benign Cephalic Histiocytosis	Inflammatory abnormality of the skin, Histiocytosis, Skin rash	ORPHA:157997
Combined Immunodeficiency, X-Linked	Pneumonia, Decreased circulating IgG level, Pneumocystis carinii pneumonia, Abnormal T cell count...	OMIM:312863
Immunodeficiency 109 With Lymphoproliferation	Decreased circulating IgG level, Decreased specific pneumococcal antibody level, Decreased lympho...	OMIM:620282
Immunodeficiency, Common Variable, 8, With Autoimmunity	Inflammation of the large intestine, Recurrent otitis media, Pancytopenia, Erythema nodosum, Auto...	OMIM:614700
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis	Pneumonia, Plasmacytosis, Lymphopenia, Autoimmune hemolytic anemia, Increased circulating antibod...	OMIM:247800
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2	Pneumonia, Decreased circulating IgG level, Pneumocystis jirovecii pneumonia, Recurrent upper res...	OMIM:614069
Peripheral Cone Dystrophy	Pallor	OMIM:609021
Insulin-Resistance Syndrome Type B	Pneumonia, Nephritis, Hypoalbuminemia, Alopecia, Hypotriglyceridemia, Decreased circulating compl...	ORPHA:2298
Odonto-Onycho Dysplasia-Alopecia Syndrome	Alopecia, Sparse eyebrow, Palmoplantar keratoderma, Sparse body hair, Abnormal fingernail morphol...	ORPHA:2722
Erythrokeratodermia Variabilis Et Progressiva 5	Abnormal hair morphology, Palmoplantar hyperkeratosis, Hyperkeratosis, Onychogryposis	OMIM:617756
Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency	Allergic rhinitis, Rheumatoid arthritis, Recurrent otitis media, Psoriasiform dermatitis, Recurre...	ORPHA:183675
Netherton Syndrome	Sparse eyebrow, Sparse scalp hair, Eczematoid dermatitis, Recurrent respiratory infections, Fine ...	ORPHA:634
Combined Immunodeficiency Due To Dock8 Deficiency	Pneumonia, Atopic dermatitis, Recurrent viral infections, Recurrent respiratory infections, Recur...	ORPHA:217390
Acute Lung Injury	Pneumonia, Sepsis, Abnormality of tumor necrosis factor secretion, Abnormal circulating cytokine ...	ORPHA:178320
Trimethylaminuria	Anemia, Recurrent pneumonia, Splenomegaly, Neutropenia	OMIM:602079
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome	Eczematoid dermatitis, Increased circulating IgE level, Reduced delayed hypersensitivity, Decreas...	OMIM:617241
Immunodeficiency, Common Variable, 14	Decreased circulating IgG level, Defective B cell differentiation, Decreased circulating IgA leve...	OMIM:617765
Immunodeficiency 92	Pneumonia, Decreased circulating IgG level, Partial absence of specific antibody response to teta...	OMIM:619652
Neutropenia, Severe Congenital, 5, Autosomal Recessive	Extramedullary hematopoiesis, Leukopenia, Splenomegaly, Increased circulating antibody level, Hep...	OMIM:615285
Immunodeficiency, Common Variable, 11	Decreased circulating IgG level, Inflammation of the large intestine, Abnormal T cell count, Incr...	OMIM:615767
Neutropenia, Severe Congenital, 10, Autosomal Recessive	Anorectal abscess, Monocytosis, Thrombocytopenia, Neutropenia, Anemia	OMIM:620534
Eosinophil Peroxidase Deficiency	Eosinophil nuclear hypersegmentation	OMIM:261500
Primary Biliary Cholangitis	Increased circulating IgA level, Cirrhosis, Hepatomegaly, Jaundice, Increased circulating IgM lev...	ORPHA:186
Mannose-Binding Lectin Deficiency	Recurrent Klebsiella infections, Recurrent meningococcal disease, Disseminated cryptosporidium in...	OMIM:614372
Hyper-Ige Syndrome 2, Autosomal Recessive, With Recurrent Infections	Allergic rhinitis, Recurrent viral infections, Increased circulating IgE level, Recurrent otitis ...	OMIM:243700
Immunodeficiency, Common Variable, 10	Decreased circulating IgG level, Recurrent pneumonia, Frequent Giardia lamblia infestation, Recur...	OMIM:615577
Anonychia With Flexural Pigmentation	Abnormal hair morphology, Alopecia of scalp, Follicular hyperkeratosis, Anonychia, Hyperkeratosis	ORPHA:69125
Immunodeficiency Due To Interleukin-1 Receptor-Associated Kinase-4 Deficiency	Neutropenia	ORPHA:70592
Transcobalamin Deficiency	Decreased circulating IgG level, Lymphopenia, Decreased circulating IgA level, Pancytopenia, Neut...	ORPHA:859
Breath-Holding Spells	Pallor	OMIM:607578
Hemophagocytic Lymphohistiocytosis, Familial, 4	Hemophagocytosis, Increased circulating ferritin concentration, Skin rash, Splenomegaly, Hepatome...	OMIM:603552
Graham Little-Piccardi-Lassueur Syndrome	Alopecia, Sparse pubic hair, Sparse axillary hair, Perifollicular hyperkeratosis, Pruritus, Spars...	ORPHA:505
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency	Decreased circulating IgG level, Recurrent pneumonia, Recurrent viral infections, Decreased lymph...	ORPHA:35078
Immunodeficiency 114, Folate-Responsive	Decreased circulating IgG level, Atopic dermatitis, Increased circulating ferritin concentration,...	OMIM:620603
Vulvovaginal Gingival Syndrome	Parakeratosis, Ridged nail, Pruritus, Abnormality of tumor necrosis factor secretion	ORPHA:83453
X-Linked Severe Congenital Neutropenia	Monocytopenia, Neutropenia	ORPHA:86788
Immunodeficiency 11B With Atopic Dermatitis	Pneumonia, Atopic dermatitis, Bronchiectasis, Increased circulating IgE level, Disseminated mollu...	OMIM:617638
Irida Syndrome	Intrahepatic cholestasis, Pallor	ORPHA:209981
Immunodeficiency 69	Hemophagocytosis, BCGitis, Increased circulating ferritin concentration, Hepatosplenomegaly, Panc...	OMIM:618963
Schnitzler Syndrome	Leukocytosis, Skin rash, Splenomegaly, Hepatomegaly, Lymphadenopathy, Arthritis, Anemia, Pruritus...	ORPHA:37748
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency	Inflammatory abnormality of the skin, Recurrent viral infections, Increased circulating IgE level...	OMIM:102700
Reticular Dysgenesis	Sepsis, Abnormality of neutrophils, Aplasia/Hypoplasia of the thymus, Leukopenia, Skin rash, Anem...	ORPHA:33355
Poikiloderma With Neutropenia	Recurrent pneumonia, Sparse eyebrow, Palmoplantar keratoderma, Sparse lateral eyebrow, Recurrent ...	OMIM:604173
Immunodeficiency, Developmental Delay, And Hypohomocysteinemia	Hypohomocysteinemia, Hypocystinemia, Decreased circulating IgA level, Recurrent skin infections, ...	OMIM:617744
Nevoid Hypermelanosis, Linear And Whorled	Eosinophilia	OMIM:614323
Familial Reactive Perforating Collagenosis	Hyperkeratotic papule, Inflammatory abnormality of the skin, Maculopapular exanthema, Crusting er...	ORPHA:79147
Ichthyosis Hystrix Of Curth-Macklin	Ichthyosis, Nail dystrophy, Diffuse palmoplantar hyperkeratosis, Recurrent skin infections, Hyper...	ORPHA:79503
Immunodeficiency Due To Selective Anti-Polysaccharide Antibody Deficiency	Atopic dermatitis, Decreased proportion of memory B cells, Decreased specific anti-polysaccharide...	ORPHA:70593
Acute Myelomonocytic Leukemia	Abnormal bleeding, Pallor	ORPHA:517
Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige	Hypoalbuminemia, Sparse hair, Palmoplantar keratoderma, Orthokeratosis, Hypergranulosis, Increase...	OMIM:615508
Hypotrichosis 10	Sparse eyebrow, Sparse body hair, Sparse eyelashes, Abnormality of the nail, Sparse scalp hair	OMIM:614238
Agammaglobulinemia, X-Linked	Enteroviral dermatomyositis syndrome, Recurrent otitis media, Lymph node hypoplasia, Prostatitis,...	OMIM:300755
Hyperimmunoglobulinemia D With Periodic Fever	Recurrent aphthous stomatitis, Peritonitis, Increased circulating IgA level, Lymphadenopathy, Art...	ORPHA:343
Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia	Decreased circulating IgG level, Recurrent urinary tract infections, Lymphopenia, Leukopenia, Spl...	OMIM:620210
Immunodeficiency 96	Decreased circulating IgG level, Increased mean corpuscular volume, Eczematoid dermatitis, Increa...	OMIM:619774
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation	Pneumonia, Abnormally low T cell receptor excision circle level, Recurrent upper respiratory trac...	OMIM:602450
Elliptocytosis 1	Jaundice, Pallor, Splenomegaly	OMIM:611804
Primary Intestinal Lymphangiectasia	Peritoneal effusion, Lymphopenia, Hypoproteinemia, Opportunistic infection, Ascites, Pleural effu...	ORPHA:90362
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome	Decreased proportion of memory B cells, Recurrent viral infections, Recurrent enteroviral infecti...	ORPHA:79124
Lymphoproliferative Syndrome 2	Recurrent pneumonia, Sepsis, Decreased lymphocyte proliferation in response to mitogen, Aplastic ...	OMIM:615122
Persistent Polyclonal B-Cell Lymphocytosis	Splenomegaly, Hepatomegaly, Lymphocytosis, Decreased circulating total IgM, Recurrent infections	OMIM:606445
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 2	Hepatomegaly, Elevated circulating hepatic transaminase concentration, Pallor, Hypertrophic cardi...	OMIM:613561
Dystrophic Epidermolysis Bullosa Pruriginosa	Increased circulating IgE level, Nail dystrophy, Abnormal toenail morphology, Pruritus, Hyperkera...	ORPHA:89843
Mendelian Susceptibility To Mycobacterial Diseases Due To Complete Il12Rb1 Deficiency	Pneumonia, Recurrent mycobacterial infections, Abnormal circulating interleukin concentration, Re...	ORPHA:319552
Neutropenia, Severe Congenital, 4, Autosomal Recessive	Lymphopenia, Hepatosplenomegaly, Neutropenia, Hepatomegaly, Recurrent lower respiratory tract inf...	OMIM:612541
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease	Recurrent upper respiratory tract infections, Hemophagocytosis, Increased circulating ferritin co...	OMIM:613101
Proteasome-Associated Autoinflammatory Syndrome 3	Lymphopenia, Skin rash, Splenomegaly, Increased circulating antibody level, Myositis, Hypertrigly...	OMIM:617591
Immunodeficiency, Common Variable, 12, With Autoimmunity	Atrophic gastritis, Recurrent pneumonia, Alopecia, Recurrent skin infections, Autoimmune hemolyti...	OMIM:616576
Hypotrichosis Simplex	Alopecia, Sparse eyebrow, Sparse body hair, Sparse eyelashes, Sparse hair, Sparse scalp hair	ORPHA:55654
Sézary Syndrome	Alopecia, Palmoplantar keratoderma, Abnormal lymphocyte morphology, Splenomegaly, Nail dystrophy,...	ORPHA:3162
Palmoplantar Keratoderma, Nonepidermolytic, Focal 1	Follicular hyperkeratosis, Perioral hyperkeratosis, Palmoplantar keratoderma, Congenital bullous ...	OMIM:613000
Beta-Thalassemia	Cholelithiasis, Skin ulcer, Hepatitis, Hypertrophic cardiomyopathy, Pallor, Splenomegaly, Hepatom...	ORPHA:848
Immunodeficiency, Ovarian Dysgenesis, And Pulmonary Fibrosis	Decreased circulating IgG level, Decreased proportion of CD8-positive T cells, Decreased circulat...	OMIM:611926
Anemia, Sideroblastic, 5	Reduced hematocrit, Hypochromic microcytic anemia, Thrombocytopenia, Anemia, Neutropenia	OMIM:619523
Lymphoproliferative Syndrome 1	Decreased circulating IgG level, Hemophagocytosis, Increased circulating ferritin concentration, ...	OMIM:613011
Immunoglobulin A Deficiency 1	Recurrent infections, Decreased circulating IgA level, Recurrent infection of the gastrointestina...	OMIM:137100
Hypotrichosis 11	Alopecia universalis, Aplasia/Hypoplasia of the eyebrow, Sparse or absent eyelashes, Absent axill...	OMIM:615059
Insulin-Resistance Syndrome Type A	Generalized hirsutism, Hyperkeratosis	ORPHA:2297
Ichthyosis-Hypotrichosis Syndrome	Sparse hair, Ichthyosis	ORPHA:91132
Anemia, Congenital Dyserythropoietic, Type Ib	Hepatomegaly, Jaundice, Pallor, Splenomegaly	OMIM:615631
Parana Hard Skin Syndrome	Generalized hirsutism, Thickened skin, Hyperkeratosis	ORPHA:2812
Verrucous Hemangioma	Hyperkeratotic papule, Inflammatory abnormality of the skin	ORPHA:464318
Hb Bart'S Hydrops Fetalis	Congestive heart failure, Pallor, Splenomegaly, Hepatomegaly, Pericarditis	ORPHA:163596
Immunodeficiency 22	Decreased circulating IgG level, Recurrent upper respiratory tract infections, Ascites, Decreased...	OMIM:615758
Kondoh Syndrome	Sparse hair, Atopic dermatitis, Thick eyebrow, Widow's peak	OMIM:606242
Dermatitis, Atopic	Dry skin, Facial erythema, Pallor	OMIM:603165
Adult Acute Respiratory Distress Syndrome	Pneumonia, Abnormal circulating interleukin concentration, Sepsis, Abnormality of tumor necrosis ...	ORPHA:70578
Ichthyosis, Lamellar, Autosomal Dominant	Pruritus, Hyperkeratosis, Congenital nonbullous ichthyosiform erythroderma	OMIM:146750
Immunodeficiency 57 With Autoinflammation	Inflammation of the large intestine, Partial absence of specific antibody response to tetanus vac...	OMIM:618108
Porokeratosis Of Mibelli	Pruritus, Hyperkeratosis, Porokeratosis	ORPHA:735
Palmoplantar Keratoderma, Nagashima Type	Orthokeratotic hyperkeratosis, Palmoplantar hyperhidrosis, Palmoplantar hyperkeratosis, Hypergran...	OMIM:615598
Autosomal Recessive Generalized Epidermolysis Bullosa Simplex	Dystrophic toenail, Abnormal fingernail morphology, Ridged nail, Absent toenail, Abnormal toenail...	ORPHA:89838
Benign Paroxysmal Torticollis Of Infancy	Pallor	ORPHA:71518
Multiple Myeloma	Elevated circulating creatinine concentration, Pleural effusion, Splenomegaly, Increased circulat...	ORPHA:29073
Immunodeficiency 86	Decreased circulating IgG level, Increased circulating IgM level, Impaired oxidative burst, BCGitis	OMIM:619549
Simple Cryoglobulinemia	Nephritis, Monoclonal immunoglobulin M proteinemia, Viral hepatitis, Paraproteinemia, Reduced cir...	ORPHA:91139
Leishmaniasis	Hypoalbuminemia, Pancytopenia, Leukopenia, Splenomegaly, Abnormal macrophage morphology, Increase...	ORPHA:507
Ichthyosis, Hystrix-Like, With Deafness	Sparse eyebrow, Palmoplantar keratoderma, Cobblestone-like hyperkeratosis, Ichthyosis, Sparse eye...	OMIM:602540
Lymphoma, Hodgkin, Classic	Polyclonal elevation of IgM, Impaired lymphocyte transformation with phytohemagglutinin	OMIM:236000
Rothmund-Thomson Syndrome, Type 1	Recurrent otitis media, Nail dystrophy, Absent eyelashes, Absent eyebrow, Thin nail, Sparse hair,...	OMIM:618625
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome	Inflammatory abnormality of the skin, Increased circulating IgE level, Psoriasiform dermatitis, C...	ORPHA:37042
Prolidase Deficiency	Recurrent pneumonia, Eczematoid dermatitis, Facial hirsutism, Splenomegaly, Increased circulating...	OMIM:170100
Hyperinsulinism Due To Ucp2 Deficiency	Diffuse pancreatic islet hyperplasia, Hypertrophic cardiomyopathy, Palpitations, Pallor, Syncope,...	ORPHA:276556
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency	Diffuse pancreatic islet hyperplasia, Hypertrophic cardiomyopathy, Palpitations, Pallor, Focal pa...	ORPHA:276575
Hyper-Ige Syndrome 6, Autosomal Dominant, With Recurrent Infections	Atopic dermatitis, Recurrent viral infections, Increased circulating IgE level, Eosinophilic infi...	OMIM:620532
Bone Marrow Failure Syndrome 4	Bone marrow hypocellularity, Eczematoid dermatitis, Leukopenia, Thrombocytopenia, Anemia, Recurre...	OMIM:618116
Congenital Disorder Of Glycosylation, Type Iil	Inflammation of the large intestine, Decreased specific anti-polysaccharide antibody level, Impai...	OMIM:614576
Immunodeficiency 15A	Decreased proportion of memory B cells, Acne inversa, Chronic mucocutaneous candidiasis, Cutaneou...	OMIM:618204
Palmoplantar Keratoderma, Epidermolytic, 1	Increased circulating IgE level, Palmoplantar hyperkeratosis, Palmar hyperkeratosis, Plantar hype...	OMIM:144200
Optic Atrophy 7 With Or Without Auditory Neuropathy	Hypertrophic cardiomyopathy, Pallor	OMIM:612989
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked	Alopecia, Eczematoid dermatitis, Hepatitis, Increased circulating IgE level, Decreased FOXP3-expr...	OMIM:304790
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive	Pneumonia, Failure to thrive secondary to recurrent infections, Panhypogammaglobulinemia, Otitis ...	OMIM:601457
Myelofibrosis	Hepatomegaly, Purpura, Pallor, Splenomegaly	OMIM:254450
Alpha-Heavy Chain Disease	Alopecia, Ascites, Splenomegaly, Hypocalcemia, Dysgammaglobulinemia, Hepatomegaly, Lymphadenopath...	ORPHA:100025
Mu-Heavy Chain Disease	Abnormal B cell count, Splenomegaly, Increased circulating antibody level, Hepatomegaly, Lymphade...	ORPHA:100024
Immunodeficiency 9	Decreased circulating IgG level, BCGitis, Lymphopenia, Decreased circulating IgA level, Recurrent...	OMIM:612782
Immune Deficiency, Familial Variable	Recurrent infections, Decreased circulating IgG level, Decreased circulating IgA level	OMIM:146830
Alopecia-Epilepsy-Pyorrhea-Intellectual Disability Syndrome	Alopecia universalis, Periodontitis, Sparse body hair, Abnormal eyelash morphology, Sparse scalp ...	ORPHA:1008
Inflammatory Skin And Bowel Disease, Neonatal, 2	Recurrent pneumonia, Increased circulating IgE level, Long eyelashes, Recurrent bronchiolitis, Pu...	OMIM:616069
Intellectual Developmental Disorder, X-Linked, Syndromic, Chudley-Schwartz Type	Decreased circulating IgG level, Decreased circulating IgA level, Hirsutism, Decreased circulatin...	OMIM:300861
Pyruvate Kinase Deficiency Of Red Cells	Cholelithiasis, Reduced red cell pyruvate kinase level, Pallor, Cholecystitis, Splenomegaly, Hepa...	OMIM:266200
Hyper-Ige Syndrome 4B, Autosomal Recessive, With Recurrent Infections	Keratitis, Eczematoid dermatitis, Increased circulating IgE level, Recurrent otitis media, Eosino...	OMIM:618523
Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia	Recurrent pneumonia, Eczematoid dermatitis, Hypersegmentation of neutrophil nuclei, Lymphopenia, ...	OMIM:617780
Macroglobulinemia, Waldenstrom, Susceptibility To, 1	Leukemia, Monoclonal immunoglobulin M proteinemia, Polyclonal elevation of IgM, Impaired lymphocy...	OMIM:153600
Peeling Skin Syndrome 1	Increased circulating IgE level, Nail dystrophy, Onycholysis, Eosinophilia, Erythroderma, Palmopl...	OMIM:270300
Proteasome-Associated Autoinflammatory Syndrome 5	Hepatomegaly, Splenomegaly, Skin rash, Hypertriglyceridemia	OMIM:619175
Autosomal Agammaglobulinemia	Bronchiectasis, Sepsis, Hepatitis, Recurrent respiratory infections, Osteomyelitis, Skin rash, Ag...	ORPHA:33110
Combined Immunodeficiency With Facio-Oculo-Skeletal Anomalies	Recurrent viral infections, Decreased circulating total IgG, Decreased lymphocyte proliferation i...	ORPHA:221139
Immunodeficiency 21	Reduced natural killer cell count, Recurrent viral infections, Recurrent mycobacterium avium comp...	OMIM:614172
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease	Abnormal circulating interleukin concentration, Reduced natural killer cell count, Hemophagocytos...	ORPHA:158057
C1Q Deficiency 2	Discoid lupus rash, Pneumocystis carinii pneumonia, Sepsis, Recurrent otitis media, Malar rash, C...	OMIM:620321
Hypotrichosis 4	Alopecia, Sparse eyebrow, Sparse body hair, Sparse eyelashes, Uncombable hair, Sparse scalp hair	OMIM:146550
Thrombocytopenia 1	Decreased mean platelet volume, Eczematoid dermatitis, Increased circulating IgE level, Increased...	OMIM:313900
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency	Diffuse pancreatic islet hyperplasia, Hypertrophic cardiomyopathy, Palpitations, Pallor, Syncope,...	ORPHA:276580
Combined Immunodeficiency Due To Zap70 Deficiency	Recurrent viral infections, Lymphadenitis, Abnormal lymph node morphology, Decreased proportion o...	ORPHA:911
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome	Pallor	ORPHA:2786
X-Linked Agammaglobulinemia	Recurrent pneumonia, Sepsis, Alopecia, Hepatitis, Osteomyelitis, Skin rash, Hypocalcemia, Abnorma...	ORPHA:47
Primary Myelofibrosis	Increased circulating lactate dehydrogenase concentration, Abnormal bleeding, Hepatosplenomegaly,...	ORPHA:824
Hemoglobin D Disease	Pallor, Splenomegaly	ORPHA:90039
Familial Cold Autoinflammatory Syndrome 2	Recurrent aphthous stomatitis, Leukocytosis, Skin rash, Splenomegaly, Lymphadenopathy, Arthritis,...	OMIM:611762
Immunodeficiency 35	Recurrent mycobacterial infections, Recurrent viral infections, Increased circulating IgE level, ...	OMIM:611521
Pigmentary Disorder, Reticulate, With Systemic Manifestations, X-Linked	Recurrent pneumonia, Increased circulating interleukin 8 concentration, Frontal upsweep of hair, ...	OMIM:301220
Hypotrichosis, Congenital, With Juvenile Macular Dystrophy	Reduced terminal:vellus ratio, Pili torti, Sparse hair, Abnormality of the nail, Sparse scalp hair	OMIM:601553
Gamma-A-Globulin, Defect In Assembly Of	Decreased circulating IgA level, Recurrent respiratory infections	OMIM:137050
Autoinflammation, Antibody Deficiency, And Immune Dysregulation	Bronchiolitis, Decreased circulating IgA level, Interstitial pneumonitis, Enterocolitis, Recurren...	OMIM:614878
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome	Tachycardia, Pallor, Pancreatic islet-cell hyperplasia	ORPHA:276608
Leber Congenital Amaurosis 14	Pallor	OMIM:613341
Insulin Autoimmune Syndrome	Acanthosis nigricans, Arthralgia/arthritis, Increased circulating antibody level	ORPHA:411593
Leukomelanoderma, Infantilism, Impaired Intellectual Development, Hypodontia, Hypotrichosis	Sparse hair	OMIM:246500
Drug-Induced Autoimmune Hemolytic Anemia	Tachycardia, Pallor, Splenomegaly, Congestive heart failure	ORPHA:90037
Omenn Syndrome	Pneumonia, Thickened skin, Alopecia, Recurrent viral infections, Severe B lymphocytopenia, Spleno...	OMIM:603554
Ulerythema Ophryogenesis	Hyperkeratotic papule, Sparse lateral eyebrow, Follicular hyperkeratosis, Contact dermatitis, Acne	ORPHA:3406
Erythrokeratodermia Variabilis	Alopecia, Abnormal hair morphology, Patchy palmoplantar hyperkeratosis, Skin rash, Generalized hi...	ORPHA:317
T-Cell Immunodeficiency With Thymic Aplasia	Aplasia of the thymus, Meningitis, Chronic otitis media, Decreased lymphocyte proliferation in re...	ORPHA:83471
Congenital Heart Block	Atrioventricular block, Second degree atrioventricular block, Third degree atrioventricular block...	ORPHA:60041
Immunodeficiency 67	Recurrent staphylococcal infections, Abnormal T cell count, Abnormal natural killer cell count, I...	OMIM:607676
Autoinflammation With Infantile Enterocolitis	Hypoalbuminemia, Reduced natural killer cell count, Increased circulating ferritin concentration,...	OMIM:616050
Diaph1-Related Sensorineural Hearing Loss-Thrombocytopenia Syndrome	Thrombocytopenia, Iron deficiency anemia, Neutropenia, Increased mean platelet volume	ORPHA:494444
Cernunnos-Xlf Deficiency	Recurrent viral infections, Lymphopenia, T lymphocytopenia, Anemia, Thrombocytopenia, B lymphocyt...	ORPHA:169079
Cinca Syndrome	Lymphedema, Hepatosplenomegaly, Leukocytosis, Skin rash, Anemia, Eosinophilia, Lymphadenopathy, A...	OMIM:607115
Ichthyosis, Congenital, Autosomal Recessive 11	Sparse eyebrow, Blepharitis, Congenital ichthyosiform erythroderma, Sparse body hair, Curly eyela...	OMIM:602400
Psoriasis 14, Pustular	Psoriasiform dermatitis, Leukocytosis, Nail dystrophy, Pustule, Parakeratosis, Oligoarthritis, Ne...	OMIM:614204
Ectodermal Dysplasia 6, Hair/Nail Type	Alopecia, Sparse hair, Thin toenail, Dystrophic toenail	OMIM:614928
Papa Syndrome	Crohn's disease, Increased inflammatory response, Myositis, Increased circulating antibody level,...	ORPHA:69126
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2	Increased mean corpuscular volume, Pancytopenia, Acute myeloid leukemia, Thrombocytopenia, Neutro...	OMIM:619041
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis	Osteomyelitis, Skin rash, Splenomegaly, Joint swelling, Pustule, Abscess, Hepatomegaly, Hyperkera...	OMIM:612852
Dermatoleukodystrophy	Thickened skin, Hyperkeratosis	ORPHA:1659
Ichthyosis Hystrix, Lambert Type	Orthokeratotic hyperkeratosis, Hyperkeratosis	OMIM:146600
Hereditary Palmoplantar Keratoderma, Gamborg-Nielsen Type	Diffuse palmoplantar hyperkeratosis, Hyperkeratosis with erythema	ORPHA:86923
Palmoplantar Keratoderma, Punctate Type Iii	Acrokeratosis, Hyperkeratosis	OMIM:101850
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema	Cholelithiasis, Hepatitis, Pallor, Splenomegaly, Hepatomegaly, Jaundice	OMIM:194380
Dowling-Degos Disease 2	Hyperkeratotic papule, Follicular hyperkeratosis	OMIM:615327
Beta-Thalassemia Intermedia	Cholelithiasis, Skin ulcer, Decreased liver function, Hepatosplenomegaly, Abnormality of the live...	ORPHA:231222
Atrichia With Papular Lesions	Sparse hair	OMIM:209500
Panniculitis-Induced Localized Lipodystrophy	Abnormal immunoglobulin level, Inflammatory abnormality of the skin	ORPHA:90159
Hemophagocytic Syndrome Associated With An Infection	Hemophagocytosis, Opportunistic bacterial infection, Pancytopenia, Abnormal T cell subset distrib...	ORPHA:158048
Systemic Mastocytosis With Associated Hematologic Neoplasm	Normocytic anemia, Chronic myelomonocytic leukemia, Leukocytosis, Splenomegaly, Chronic lymphatic...	ORPHA:98849
Palmoplantar Keratoderma-Deafness Syndrome	Palmoplantar keratoderma, Hyperkeratosis	ORPHA:2202
Prolidase Deficiency	Palmoplantar keratoderma, Abnormal fingernail morphology, White forelock, Splenomegaly, Recurrent...	ORPHA:742
Trichothiodystrophy 1, Photosensitive	Decreased circulating IgG level, Small nail, Fine hair, Trichorrhexis nodosa, Tiger tail banding,...	OMIM:601675
Pyogenic Sterile Arthritis, Pyoderma Gangrenosum, And Acne	Microcytic anemia, Hepatosplenomegaly, Pancytopenia, Arthritis, Thrombocytosis, Elevated circulat...	OMIM:604416
Congenital Dyserythropoietic Anemia Type Iii	Gingival bleeding, Elevated circulating hepatic transaminase concentration, Pallor, Melena, Oral ...	ORPHA:98870
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome	Recurrent pneumonia, Abnormal CD4:CD8 ratio, Recurrent aphthous stomatitis, Splenomegaly, Abscess...	OMIM:150550
Perifolliculitis Capitis Abscedens Et Suffodiens, Familial	Alopecia, Perifolliculitis, Alopecia of scalp	OMIM:260910
Epidermolysis Bullosa Simplex 6, Generalized Intermediate, With Or Without Cardiomyopathy	Alopecia, Dystrophic toenail, Sparse body hair, Onychogryposis of toenails, Alopecia of scalp, Di...	OMIM:617294
Mucopolysaccharidosis-Plus Syndrome	Thickened skin, Low posterior hairline, Neutropenia, Hepatomegaly, Macrovesicular hepatic steatos...	OMIM:617303
Griscelli Syndrome	Silver-gray hair, Bone marrow hypocellularity, Hepatitis, White hair, Premature graying of hair, ...	ORPHA:381
Immunodeficiency 82 With Systemic Inflammation	Decreased circulating total IgG, Pustular rash, Recurrent otitis media, Follicular hyperplasia, E...	OMIM:619381
Osteopenia And Sparse Hair	Sparse hair	OMIM:259690
Immunodeficiency 23	Allergic rhinitis, Recurrent staphylococcal infections, Eczematoid dermatitis, Chronic mucocutane...	OMIM:615816
Aicardi-Goutieres Syndrome 5	Thrombocytopenia, Chilblains, Increased circulating interferon-gamma concentration	OMIM:612952
Acquired Ichthyosis	Palmoplantar keratoderma, Recurrent skin infections, Ichthyosis, Pruritus, Hyperkeratosis	ORPHA:454
Lamellar Ichthyosis	Sparse hair, Abnormality of the nail, Sepsis, Ichthyosis, Erythroderma, Aplasia/Hypoplasia of the...	ORPHA:313
Secondary Intestinal Lymphangiectasia	Hypoalbuminemia, Anasarca, Decreased circulating IgG1 level, Reduced circulating transferrin conc...	ORPHA:90363
Optic Atrophy 1	Pallor	OMIM:165500
Autoinflammatory Disease, Systemic, With Vasculitis	Cholestasis, Hepatosplenomegaly, Abnormal circulating IgG level, Periorbital edema, Elevated circ...	OMIM:620376
Epidermolysis Bullosa Simplex 1C, Localized	Hyperkeratosis	OMIM:131800
Thiamine-Responsive Megaloblastic Anemia Syndrome	Paroxysmal atrial tachycardia, Cardiac arrest, Pallor, Congestive heart failure	ORPHA:49827
Alopecia Antibody Deficiency	Sparse body hair, Decreased circulating antibody level, Aplasia/Hypoplasia of the eyebrow, Abnorm...	ORPHA:1006
Ectodermal Dysplasia 15, Hypohidrotic/Hair Type	Palmoplantar keratoderma, Eczematoid dermatitis, Sparse body hair, Sparse eyelashes, Hypohidrosis...	OMIM:618535
Immunodeficiency 12	Recurrent viral infections, Decreased lymphocyte proliferation in response to anti-CD3, Recurrent...	OMIM:615468
Hyperinsulinism Due To Hnf1A Deficiency	Palpitations, Pallor, Syncope, Hepatomegaly, Tachycardia	ORPHA:324575
Mogs-Cdg	Decreased circulating IgG level, Generalized edema, Alopecia, Fair hair, Decreased circulating Ig...	ORPHA:79330
Palmoplantar Keratoderma And Congenital Alopecia 2	Alopecia totalis, Nail dystrophy, Nail dysplasia, Palmoplantar hyperkeratosis, Hyperkeratosis, Sc...	OMIM:212360
Roifman Syndrome	Recurrent pneumonia, Prominent eyelashes, Eczematoid dermatitis, Recurrent otitis media, Hepatosp...	ORPHA:353298
Immune Dysregulation, Autoimmunity, And Autoinflammation	Abnormal circulating C-reactive protein concentration, Increased circulating interleukin 8 concen...	OMIM:620514
Bloom Syndrome	Severe toxoplasmosis, Abscess, Sparse eyelashes, Abnormal proportion of CD8-positive T cells, Acu...	ORPHA:125
Wiskott-Aldrich Syndrome 2	Eczematoid dermatitis, Decreased proportion of CD8-positive T cells, Defective T cell proliferati...	OMIM:614493
Boutonneuse Fever	Cervical lymphadenopathy, Leukopenia, Skin rash, Maculopapular exanthema, Lymphadenopathy, Thromb...	ORPHA:83313
Immunodeficiency 98 With Autoinflammation, X-Linked	Decreased circulating IgG level, Pneumocystis jirovecii pneumonia, Bone marrow hypocellularity, H...	OMIM:301078
Cold Agglutinin Disease	Hepatomegaly, Pallor, Splenomegaly	ORPHA:56425
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Intermediate Form	Nail dystrophy, Palmar hyperkeratosis, Plantar hyperkeratosis, Pruritus, Hyperkeratosis	ORPHA:79399
Igg4-Related Dacryoadenitis And Sialadenitis	Facial edema, Xerostomia, Increased circulating IgG4 level, Myositis, Increased circulating IgA l...	ORPHA:79078
Acne Inversa, Familial, 2, With Or Without Dowling-Degos Disease	Acne inversa, Chronic furunculosis, Follicular hyperkeratosis, Perifolliculitis, Recurrent cutane...	OMIM:613736
Zika Virus Disease	Myelitis, Pruritus, Skin rash, Infectious encephalitis, Arthritis, Meningitis, Thrombocytopenia, ...	ORPHA:448237
Poikiloderma, Hereditary Fibrosing, With Tendon Contractures, Myopathy, And Pulmonary Fibrosis	Alopecia, Sparse eyebrow, Erysipelas, Sparse eyelashes, Elevated circulating creatine kinase conc...	OMIM:615704
Neonatal Lupus Erythematosus	Aplastic anemia, Pancytopenia, Malar rash, Abnormality of the liver, Splenomegaly, Skin rash, Par...	ORPHA:398124
Congenital Panfollicular Nevus	Hyperkeratosis	ORPHA:139414
Deafness-Lymphedema-Leukemia Syndrome	Bruising susceptibility, Pallor, Splenomegaly, Hepatomegaly, Intracranial hemorrhage, Prolonged b...	ORPHA:3226
Angioma Serpiginosum, X-Linked	Sparse hair, Hyperkeratosis, Nail dystrophy, Fine hair	OMIM:300652
Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency	Hepatomegaly, Jaundice, Increased circulating lactate dehydrogenase concentration, Pallor	OMIM:613839
Retinal Dystrophy, Iris Coloboma, And Comedogenic Acne Syndrome	Comedonal acne, Follicular hyperkeratosis, Decreased retinol-binding protein level	OMIM:615147
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Recessive	Hypoalbuminemia, Alopecia, Palmoplantar keratoderma, Ichthyosis, Increased serum bile acid concen...	OMIM:242150
Mal De Meleda	Inflammatory abnormality of the skin, Palmoplantar keratoderma, Ichthyosis, Superficial dermal pe...	ORPHA:87503
Combined Cellular And Humoral Immune Defects With Granulomas	Decreased circulating IgG level, Recurrent respiratory infections, T lymphocytopenia, B lymphocyt...	OMIM:233650
Ataxia-Telangiectasia	Decreased circulating IgG level, Defective B cell differentiation, Abnormal hair morphology, Lymp...	OMIM:208900
Reticulate Acropigmentation Of Kitamura	Hyperkeratosis	OMIM:615537
Spontaneous Periodic Hypothermia	Arrhythmia, Pallor	ORPHA:29822
Autosomal Dominant Hypohidrotic Ectodermal Dysplasia	Eczematoid dermatitis, Sparse body hair, Abnormal fingernail morphology, Hypohidrosis, Sparse hai...	ORPHA:1810
Hyperkeratosis-Hyperpigmentation Syndrome	Hyperkeratosis	ORPHA:1336
Ichthyosis, Congenital, Autosomal Recessive 1	Alopecia, Congenital ichthyosiform erythroderma, Nail dystrophy, Ichthyosis, Nail dysplasia, Para...	OMIM:242300
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1	Pneumonia, Reduced natural killer cell count, Decreased circulating IgA level, T lymphocytopenia,...	OMIM:242860
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
Erythrokeratoderma ''En Cocardes''	Hyperkeratosis	ORPHA:315
Immunodeficiency 110 With Lymphoproliferation	Recurrent pneumonia, Recurrent viral infections, Recurrent upper respiratory tract infections, Ch...	OMIM:614868
Bathing Suit Ichthyosis	Thickened skin, Alopecia, Nail dystrophy, Ichthyosis, Parakeratosis, Hypohidrosis, Erythroderma, ...	ORPHA:100976
Ichthyosis, Congenital, Autosomal Recessive 10	Palmoplantar keratoderma, Hypergranulosis, Orthokeratotic hyperkeratosis, Erythroderma, Generaliz...	OMIM:615024
Epidermolytic Hyperkeratosis 2A, Autosomal Dominant	Palmoplantar keratoderma, Generalized hyperkeratosis, Cobblestone-like hyperkeratosis, Palmoplant...	OMIM:620150
Primary Lateral Sclerosis, Juvenile	Pallor	OMIM:606353
Ige Responsiveness, Atopic	Increased circulating IgE level, Allergic rhinitis, Eczematoid dermatitis	OMIM:147050
Psoriasis-Related Juvenile Idiopathic Arthritis	Uveitis, Abnormality of tumor necrosis factor secretion, Sacroiliac arthritis, Psoriasiform derma...	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	Palmoplantar keratoderma, Small nail, Poroma, Sparse body hair, Apocrine hidrocystoma, Ridged nai...	OMIM:224750
Anemia, Hypochromic Microcytic, With Iron Overload 2	Hepatomegaly, Pallor, Splenomegaly, Elevated hepatic iron concentration	OMIM:615234
Neonatal Ichthyosis-Sclerosing Cholangitis Syndrome	Sparse eyebrow, Sparse body hair, Cholestasis, Portal hypertension, Splenomegaly, Ichthyosis, Spa...	ORPHA:59303
Immunodeficiency 58	Allergic rhinitis, Molluscum contagiosum, Esophagitis, Recurrent cutaneous abscess formation, Chr...	OMIM:618131
Familial Focal Epilepsy With Variable Foci	Pallor	ORPHA:98820
Autoimmune Hemolytic Anemia, Warm Type	Congestive heart failure, Pallor, Splenomegaly, Jaundice, Tachycardia	ORPHA:90033
Mevalonic Aciduria	Recurrent infections, Fluctuating splenomegaly, Morbilliform rash, Hepatosplenomegaly, Leukocytos...	OMIM:610377
Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis	Hepatic fibrosis, Alopecia, Sparse eyebrow, Orthokeratosis, Cholestasis, Portal hypertension, Spl...	OMIM:607626
Isolated Agammaglobulinemia	Pneumonia, Sepsis, Abnormality of neutrophils, Abnormal lymphocyte morphology, Otitis media, Skin...	ORPHA:229717
Ichthyosis With Erythrokeratoderma	Palmoplantar keratoderma, Congenital ichthyosiform erythroderma, Leukonychia, Diffuse palmoplanta...	OMIM:620507
Omenn Syndrome	Pneumonia, Thickened skin, Alopecia, Sepsis, Edema, Abnormal lymphocyte morphology, Leukocytosis,...	ORPHA:39041
Non-Functioning Paraganglioma	Sinus tachycardia, Congestive heart failure, Positive regitine blocking test, Palpitations, Pallo...	ORPHA:94080
American Trypanosomiasis	Cardiomyopathy, Congestive heart failure, Pallor, Splenomegaly, Arrhythmia, Myocarditis, Hepatome...	ORPHA:3386
Ectodermal Dysplasia-Syndactyly Syndrome 2	Palmoplantar keratoderma, Cardiomegaly, Follicular hyperkeratosis, Hyperhidrosis, Sparse hair, Co...	OMIM:613576
Agammaglobulinemia 9, Autosomal Recessive	Eczematoid dermatitis, Agammaglobulinemia, Absent circulating B cells, Seborrheic dermatitis, Thr...	OMIM:619693
Bazex Syndrome	Yellow nails, Palmoplantar keratoderma, Nail dystrophy, Parakeratosis, Acanthosis nigricans, Anem...	ORPHA:166113
Olmsted Syndrome 2	Cheilitis, Alopecia universalis, Palmoplantar keratoderma, Perioral hyperkeratosis, Woolly hair, ...	OMIM:619208
Epidermolysis Bullosa Dystrophica, Pretibial	Pruritus, Hyperkeratosis, Nail dystrophy	OMIM:131850
Growth Hormone Insensitivity Syndrome With Immune Dysregulation 2, Autosomal Dominant	Increased circulating IgE level, Recurrent infections, Eczematoid dermatitis, Thyroiditis	OMIM:618985
Hemophagocytic Lymphohistiocytosis, Familial, 2	Hemophagocytosis, Hepatosplenomegaly, Pancytopenia, Hepatomegaly, Reduced natural killer cell act...	OMIM:603553
Epidermolytic Palmoplantar Keratoderma	Hypergranulosis, Abnormal fingernail morphology, Diffuse palmoplantar hyperkeratosis, Palmoplanta...	ORPHA:2199
Ectodermal Dysplasia And Immunodeficiency 2	Recurrent infection of the gastrointestinal tract, Splenomegaly, Defective production of NFKB1-de...	OMIM:612132
Idiopathic Chronic Eosinophilic Pneumonia	Atopic dermatitis, Increased circulating IgE level, Hypereosinophilia, Pleural effusion, Leukocyt...	ORPHA:2902
Pili Torti-Onychodysplasia Syndrome	Alopecia universalis, Alopecia, Palmoplantar keratoderma, Eczematoid dermatitis, Sparse body hair...	ORPHA:2890
Autosomal Dominant Hyper-Ige Syndrome Due To Stat3 Deficiency	Eczematoid dermatitis, Recurrent respiratory infections, Increased circulating IgE level, Osteomy...	ORPHA:2314
Thrombocytopenia 5	Increased mean corpuscular volume, B Acute Lymphoblastic Leukemia, Neutropenia, Thrombocytopenia,...	OMIM:616216
Idiopathic Pulmonary Hemosiderosis	Diffuse alveolar hemorrhage, Hepatosplenomegaly, Pallor, Hepatomegaly, Heart murmur	ORPHA:99931
Keratoderma Hereditarium Mutilans With Ichthyosis	Alopecia, Orthokeratosis, Palmoplantar keratoderma, Honeycomb palmoplantar hyperkeratosis, Hyperg...	ORPHA:79395
Amegakaryocytic Thrombocytopenia, Congenital, 2	Aplastic anemia, Pancytopenia, Thrombocytopenia, Neutropenia, Anemia	OMIM:620481
Senior-Loken Syndrome 8	Pancreatic cysts, Intrahepatic bile duct dilatation, Pallor, Hepatic cysts	OMIM:616307
Lipodystrophy, Congenital Generalized, Type 4	Recurrent pneumonia, Decreased circulating IgA level, Splenomegaly, Hepatic steatosis, Elevated c...	OMIM:613327
Alg12-Cdg	Hypoalbuminemia, Recurrent pneumonia, Sepsis, Small nail, Abnormal circulating IgM level, Hypocho...	ORPHA:79324
Cholestasis-Lymphedema Syndrome	Erysipelas, Lymphedema, Hyperlipidemia, Splenomegaly, Neonatal cholestatic liver disease, Cirrhos...	OMIM:214900
Cyclic Vomiting Syndrome	Pallor, Cardiomyopathy	OMIM:500007
Cole Disease	Hyperkeratotic papule, Palmoplantar keratoderma, Orthokeratosis, Hypergranulosis, Abnormal hair m...	OMIM:615522
Autoimmune Disease, Multisystem, Infantile-Onset, 1	Recurrent upper respiratory tract infections, Eczematoid dermatitis, Exocrine pancreatic insuffic...	OMIM:615952
Moynahan Syndrome	Alopecia, Sparse hair, Hyperkeratosis	ORPHA:2574
Rheumatoid Factor-Positive Polyarticular Juvenile Idiopathic Arthritis	Abnormal circulating interleukin concentration, Joint swelling, Symmetric polyarthritis, Synoviti...	ORPHA:85435
Intellectual Developmental Disorder, Autosomal Recessive 5	Eczematoid dermatitis, Thick eyebrow, Elevated circulating creatine kinase concentration, Sparse ...	OMIM:611091
Olmsted Syndrome 1	Alopecia universalis, Subungual hyperkeratosis, Palmoplantar keratoderma, Orthokeratosis, Hyperpa...	OMIM:614594
Quinquaud Folliculitis Decalvans	Abnormal hair morphology, Pustule, Patchy alopecia, Scarring alopecia of scalp, Recurrent skin in...	ORPHA:346
Autoimmune Hepatitis	Inflammation of the large intestine, Increased total bilirubin, Ascites, Splenomegaly, Sclerosing...	ORPHA:2137
Granulomatous Disease, Chronic, Autosomal Recessive, 5	Recurrent pneumonia, Recurrent tonsillitis, Lymphadenitis, Eczematoid dermatitis, Granuloma, Lymp...	OMIM:618935
Congenital Hyperinsulinism Due To Hnf4A Deficiency	Elevated circulating hepatic transaminase concentration, Pallor, Elevated circulating alkaline ph...	ORPHA:263455
Igg4-Related Aortitis	Increased circulating IgE level, Increased circulating IgG4 level, Reduced circulating complement...	ORPHA:449400
Kimura Disease	Increased circulating IgE level, Eosinophilia, Follicular hyperplasia, Lymphadenopathy	ORPHA:482
Trichomegaly-Retina Pigmentary Degeneration-Dwarfism Syndrome	Long eyelashes, Alopecia, Sparse hair, Neonatal hyperbilirubinemia	ORPHA:3363
Proteus Syndrome	Lymphangioma, Hyperkeratosis, Splenomegaly	OMIM:176920
Bazex-Dupre-Christol Syndrome	Atopic dermatitis, Coarse hair, Acne inversa, Eczematoid dermatitis, Trichorrhexis nodosa, Pili t...	OMIM:301845
Lipoid Proteinosis Of Urbach And Wiethe	Thickened skin, Patchy alopecia, Hyperkeratosis	OMIM:247100
Thumb Deformity-Alopecia-Pigmentation Anomaly Syndrome	Onychogryposis of fingernail, Alopecia, Ridged fingernail, Palmoplantar keratoderma, Fingernail d...	ORPHA:2251
Immunodeficiency 59 And Hypoglycemia	Recurrent upper respiratory tract infections, Arteritis, Sepsis, Acne inversa, Herpes simplex enc...	OMIM:233600
Flynn-Aird Syndrome	Alopecia, Alopecia of scalp, Hyperkeratosis	OMIM:136300
Gaucher Disease Type 1	Elevated circulating CCL18 level, Splenic infarction, Cholelithiasis, Increased circulating ferri...	ORPHA:77259
Immunodeficiency 47	Hepatic bridging fibrosis, Decreased circulating total IgG, Chronic decreased circulating total I...	OMIM:300972
Pneumocystosis	Pneumocystis jirovecii pneumonia, Interstitial pneumonitis, Pleural effusion, Increased circulati...	ORPHA:723
Olmsted Syndrome, X-Linked	Subungual hyperkeratosis, Posterior blepharitis, Palmoplantar keratoderma, Alopecia totalis, Para...	OMIM:300918
Systemic-Onset Juvenile Idiopathic Arthritis	Anterior uveitis, Pleural effusion, Skin rash, Splenomegaly, Joint swelling, Hepatomegaly, Elevat...	ORPHA:85414
Trichothiodystrophy 5, Nonphotosensitive	Sparse eyebrow, Chronic decreased circulating IgG1, Reduced hair sulfur content, Tiger tail bandi...	OMIM:300953
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative	Pneumonia, Cutaneous anergy, Recurrent upper respiratory tract infections, Absent natural killer ...	OMIM:600802
Poems Syndrome	Thickened skin, Abnormality of skin physiology, Visceromegaly, Polycythemia, Hypertrichosis, Asci...	ORPHA:2905
Q Fever	Hepatosplenomegaly, Increased circulating antibody level, Hepatomegaly, Meningitis, Endocarditis,...	ORPHA:781
Acquired Idiopathic Sideroblastic Anemia	Abnormal bleeding, Congestive heart failure, Pallor, Splenomegaly, Hepatomegaly	ORPHA:75564
Papillon-Lefèvre Syndrome	Abnormality of the nail, Periodontitis, Palmoplantar keratoderma, Sparse body hair, Abnormal fing...	ORPHA:678
Kid Syndrome	Trichilemmoma, Posterior blepharitis, Psoriasiform dermatitis, Sparse eyelashes, Follicular hyper...	ORPHA:477
Monilethrix	Fine hair, Abnormal eyebrow morphology, Patchy alopecia, Follicular hyperkeratosis, Slow-growing ...	ORPHA:573
Hemosiderosis, Pulmonary, With Deficiency Of Gamma-A Globulin	Decreased circulating IgA level	OMIM:235500
Congenital Enterovirus Infection	Hypoalbuminemia, Fetal ascites, Sepsis, Hepatitis, Cholestasis, Leukopenia, Pleural effusion, Ski...	ORPHA:292
Aspergillosis	Pneumonia, Unusual CNS infection, Keratitis, Hepatitis, Increased circulating IgE level, Osteomye...	ORPHA:1163
Erythema Elevatum Diutinum	Skin rash, Increased circulating antibody level	ORPHA:90000
Hypotrichosis 6	Sparse eyebrow, Sparse eyelashes, Pili torti, Follicular hyperkeratosis, Brittle hair, Pruritus, ...	OMIM:607903
Immunodeficiency 81	Abnormally low T cell receptor excision circle level, Skin rash, Autoimmune hemolytic anemia, Abs...	OMIM:619374
Keratoderma Hereditarium Mutilans	Alopecia, Honeycomb palmoplantar hyperkeratosis, Ichthyosis, Abnormal toenail morphology, Hyperke...	ORPHA:494
Trichothiodystrophy 9, Nonphotosensitive	Sparse eyebrow, Tiger tail banding, Ichthyosis, Nail dystrophy, Sparse hair	OMIM:619692
Adult-Onset Still Disease	Neutrophilia, Bone marrow hypocellularity, Hepatitis, Abnormal circulating lipid concentration, I...	ORPHA:829
T-Cell Immunodeficiency With Thymic Aplasia	Abnormally low T cell receptor excision circle level, Recurrent pneumonia, Recurrent viral infect...	OMIM:242700
Immunodeficiency 17	Abnormal B cell morphology, Eczematoid dermatitis, Chronic decreased circulating IgG2, Recurrent ...	OMIM:615607
Autoimmune Disease, Multisystem, With Facial Dysmorphism	Hepatitis, Decreased circulating IgA level, Hypersplenism, Pancytopenia, Splenomegaly, Portal hyp...	OMIM:613385
Oliver-Mcfarlane Syndrome	Long eyelashes, Long eyebrows, Alopecia, Sparse hair	OMIM:275400
Purine Nucleoside Phosphorylase Deficiency	Hypouricemia, Recurrent viral infections, Lymphopenia, Lymph node hypoplasia, Recurrent lower res...	OMIM:613179
Congenital Disorder Of Glycosylation, Type Iq	Eczematoid dermatitis, Hypertrichosis, Microcytic anemia, Ichthyosis, Hyperkeratosis	OMIM:612379
Meige Disease	Facial edema, Predominantly lower limb lymphedema, Absence of lymph node germinal center, Lymphed...	ORPHA:90186
Granulomatous Disease, Chronic, Autosomal Recessive, 1	Discoid lupus rash, Recurrent pneumonia, Recurrent Klebsiella infections, Lymphadenitis, Eczemato...	OMIM:233700
Granulomatous Disease, Chronic, Autosomal Recessive, 2	Discoid lupus rash, Recurrent pneumonia, Recurrent Klebsiella infections, Lymphadenitis, Eczemato...	OMIM:233710
Ichthyosis Prematurity Syndrome	Allergic rhinitis, Alopecia of scalp, Erythroderma, Follicular hyperkeratosis, Polyhydramnios, Ge...	OMIM:608649
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome	Recurrent upper respiratory tract infections, Inflammatory abnormality of the skin, Eczematoid de...	ORPHA:391487
Intermediate Generalized Junctional Epidermolysis Bullosa	Palmoplantar keratoderma, Sparse body hair, Nail dystrophy, Scarring alopecia of scalp, Anonychia...	ORPHA:79402
Diamond-Blackfan Anemia 4	Erythroid hypoplasia, Reticulocytopenia, Neutropenia, Macrocytic anemia	OMIM:612527
Generalized Pustular Psoriasis	Hypoalbuminemia, Sepsis, Lymphopenia, Leukocytosis, Hypocalcemia, Palmoplantar pustulosis, Pustul...	ORPHA:247353
Good Syndrome	Thymoma, Aplasia/Hypoplasia of the thymus, Recurrent urinary tract infections, Recurrent skin inf...	ORPHA:169105
Indolent Systemic Mastocytosis	Mastocytosis, Increased proportion of CD25+ mast cells, Skin rash, Maculopapular exanthema, Splen...	ORPHA:98848
Pyoderma Gangrenosum	Inflammation of the large intestine, Rheumatoid arthritis, Increased circulating antibody level, ...	ORPHA:48104
Autoinflammatory Disease, Systemic, X-Linked	Decreased circulating IgG level, Panuveitis, Osteomyelitis, Hepatosplenomegaly, Panniculitis, Com...	OMIM:301081
Granulomatous Disease, Chronic, Autosomal Recessive, 4	Discoid lupus rash, Recurrent pneumonia, Recurrent Klebsiella infections, Lymphadenitis, Eczemato...	OMIM:233690
Idiopathic Trachyonychia	Atopic dermatitis, Toenail dysplasia, Fingernail dysplasia, Ridged nail, Nail dystrophy, Ichthyos...	ORPHA:79153
Tafro Syndrome	Anasarca, Ascites, Hepatosplenomegaly, Pleural effusion, Splenomegaly, Leukocytosis, Hepatomegaly...	ORPHA:457077
Chédiak-Higashi Syndrome	Periodontitis, Hemophagocytosis, Hepatosplenomegaly, Pancytopenia, Neutropenia, Jaundice, Recurre...	ORPHA:167
Ebola Hemorrhagic Fever	Sepsis, Hepatitis, Lymphopenia, Leukopenia, Increased circulating antibody level, Thrombocytopeni...	ORPHA:319218
Car T Cell Therapy-Associated Cytokine Release Syndrome	Abnormal circulating interleukin concentration, Increased circulating interferon-gamma concentrat...	ORPHA:542323
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency	Hepatic fibrosis, Inflammation of the large intestine, Lymphadenitis, Eczematoid dermatitis, Chol...	OMIM:615895
Hypohidrotic Ectodermal Dysplasia	Generalized hypopigmentation of hair, Xerostomia, Eczematoid dermatitis, Breast aplasia, Trichorr...	ORPHA:238468
Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2	Decreased proportion of memory B cells, Inflammation of the large intestine, Reduced natural kill...	OMIM:301074
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia	Hepatosplenomegaly, Pallor	OMIM:611590
Chromomycosis	Predominantly lower limb lymphedema, Hyperkeratotic papule, Keratitis, Hyperparakeratosis, Lymphe...	ORPHA:182
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome	Recurrent otitis media, Lymphopenia, Hepatosplenomegaly, Pancytopenia, Erythema nodosum, Elevated...	OMIM:615688
Glycogen Storage Disease Due To Lactate Dehydrogenase M-Subunit Deficiency	Predominantly dermal neutrophilic infiltrate, Superficial dermal perivascular inflammatory infilt...	ORPHA:284426
Noonan Syndrome 8	Webbed neck, Eczematoid dermatitis, Pleural effusion, Left ventricular hypertrophy, Curly hair, P...	OMIM:615355
Retinitis Pigmentosa 51	Pallor	OMIM:613464
Majeed Syndrome	Inflammatory abnormality of the skin, Microcytic anemia, Osteomyelitis, Hepatosplenomegaly, Eryth...	OMIM:609628
Lipoid Proteinosis	Thickened skin, Alopecia of scalp, Pustule, Hyperkeratosis, Recurrent respiratory infections, Acne	ORPHA:530
Pityriasis Rubra Pilaris	Thickened skin, Subungual hyperkeratosis, Palmoplantar keratoderma, Eczematoid dermatitis, Ichthy...	ORPHA:2897
Neutrophilic Dermatosis, Acute Febrile	Acne inversa, Panniculitis, Anemia, Elevated circulating C-reactive protein concentration, Increa...	OMIM:608068
Trichohepatoenteric Syndrome 2	Decreased circulating iron concentration, Trichorrhexis nodosa, Chronic hepatitis, Woolly hair, C...	OMIM:614602
Mitochondrial Complex I Deficiency, Nuclear Type 33	Aspiration pneumonia, Oligohydramnios, Hyperammonemia, Neutropenia, Sparse hair, Bronchiectasis	OMIM:618253
Even-Plus Syndrome	Atopic dermatitis, Highly arched eyebrow, Recurrent urinary tract infections, Oligohydramnios, Sp...	OMIM:616854
Xq28 (MECP2) duplication	Decreased circulating IgA level, Recurrent respiratory infections	DECIPHER:45
Bone Marrow Failure Syndrome 3	Bone marrow hypocellularity, Pancreatic steatosis, Aplastic anemia, Eczematoid dermatitis, Small ...	OMIM:617052
Leukocyte Adhesion Deficiency, Type Iii	Sepsis, Extramedullary hematopoiesis, Abnormal lymph node morphology, Hepatosplenomegaly, Leukocy...	OMIM:612840
Dyskeratosis Congenita, Digenic	Decreased circulating IgG level, Alopecia, Decreased circulating IgA level, Nail dystrophy, Spars...	OMIM:620040
Autoinflammatory-Pancytopenia Syndrome	Cholestatic liver disease, Hepatic fibrosis, Granuloma, Hemophagocytosis, Hepatosplenomegaly, Pan...	OMIM:619858
Inflammatory Skin And Bowel Disease, Neonatal, 1	Increased circulating IgE level, Pustule, Erythroderma, Onychogryposis, Blepharitis, Paronychia	OMIM:614328
Ectodermal Dysplasia, Trichoodontoonychial Type	Sparse body hair, Abnormal toenail morphology, Aplasia/Hypoplasia of the eyebrow, Abnormal eyelas...	ORPHA:1818
Dominant Beta-Thalassemia	Hepatic fibrosis, Dilated cardiomyopathy, Skin ulcer, Hepatosplenomegaly, Hypersplenism, Pallor, ...	ORPHA:231226
B4Galt1-Cdg	Inflammatory abnormality of the skin, Splenomegaly, Elevated circulating creatine kinase concentr...	ORPHA:79332
Hereditary Spherocytosis	Cholelithiasis, Restrictive cardiomyopathy, Skin ulcer, Pallor, Splenomegaly, Hepatomegaly, Jaundice	ORPHA:822
Kyphoscoliotic Ehlers-Danlos Syndrome Due To Fkbp22 Deficiency	Follicular hyperkeratosis, Elevated circulating creatine kinase concentration	ORPHA:300179
Granulomatous Disease, Chronic, X-Linked	Recurrent Klebsiella infections, Lymphadenitis, Hepatomegaly, Discoid lupus rash, Granuloma, Ecze...	OMIM:306400
Erythrokeratodermia Variabilis Et Progressiva 6	Abnormal hair morphology, Parakeratosis, Pruritus, Superficial dermal perivascular inflammatory i...	OMIM:618531
Letterer-Siwe Disease	Jaundice, Hepatosplenomegaly, Pallor	OMIM:246400
Nicolaides-Baraitser Syndrome	Highly arched eyebrow, Alopecia, Eczematoid dermatitis, Long eyelashes, Curly eyelashes, Abnormal...	ORPHA:3051
Cyclic Neutropenia	Sepsis, Periodontitis, Opportunistic infection, Recurrent tonsillitis, Cervical lymphadenopathy, ...	ORPHA:2686
Erythrokeratodermia Variabilis Et Progressiva 4	Congenital nonbullous ichthyosiform erythroderma, Palmoplantar hyperkeratosis, Hyperkeratosis	OMIM:617526
Celiac Disease, Susceptibility To, 1	Alopecia, Eczematoid dermatitis, Recurrent aphthous stomatitis, Decreased circulating IgA level, ...	OMIM:212750
Cardiomyopathy, Dilated, With Woolly Hair, Keratoderma, And Tooth Agenesis	Palmoplantar keratoderma, Leukonychia, Nail dystrophy, Ichthyosis, Parakeratosis, Pruritus, Wooll...	OMIM:615821
Cronkhite-Canada Syndrome	Alopecia, Dystrophic toenail, Sparse body hair, Lymphedema, Abnormal fingernail morphology, Splen...	ORPHA:2930
Majeed Syndrome	Inflammatory abnormality of the skin, Osteomyelitis, Leukocytosis, Splenomegaly, Synovitis, Pustu...	ORPHA:77297
Trichohepatoenteric Syndrome 1	Cholestasis, Cirrhosis, Brittle hair, Hepatomegaly, Jaundice, Curly hair, Sparse hair, Woolly hai...	OMIM:222470
Sjögren-Larsson Syndrome	Inflammatory abnormality of the eye, Hyperkeratosis, Ichthyosis	ORPHA:816
Aregenerative Anemia	Bone marrow hypocellularity, Abnormal circulating interleukin concentration, Pancytopenia, Decrea...	ORPHA:101096
Bacterial Toxic-Shock Syndrome	Abscess, Glomerulonephritis, Meningitis, Recurrent skin infections, Osteomyelitis, Elevated circu...	ORPHA:36234
Choroidal Atrophy-Alopecia Syndrome	Ridged fingernail, Fine hair, Supernumerary nipple, Abnormal fingernail morphology, Bifid nail, T...	ORPHA:1433
Hypocomplementemic Urticarial Vasculitis	Angioedema, Ascites, Reduced circulating complement concentration, Episcleritis, Skin rash, Splen...	ORPHA:36412
Familial Cold Autoinflammatory Syndrome 1	Leukocytosis, Skin rash, Arthritis, Elevated circulating C-reactive protein concentration, Conjun...	OMIM:120100
Palmoplantar Keratoderma And Congenital Alopecia 1	Alopecia, Sparse eyebrow, Palmoplantar keratoderma, Leukonychia, Nail dysplasia, Brittle hair, Pl...	OMIM:104100
Syndromic X-Linked Intellectual Disability 7	Sparse body hair	ORPHA:85274
Cystic Echinococcosis	Cholestatic liver disease, Unusual infection, Peritoneal abscess, Invasive parasitic infection, H...	ORPHA:400
Ectodermal Dysplasia 12, Hypohidrotic/Hair/Tooth/Nail Type	Subungual hyperkeratosis, Orthokeratosis, Acne inversa, Eczematoid dermatitis, Sparse lateral eye...	OMIM:617337
Monilethrix	Alopecia, Nail dystrophy, Nail dysplasia, Brittle hair, Abnormality of hair texture, Sparse hair,...	OMIM:158000
Brucellosis	Arteritis, Sacroiliac arthritis, Hypersplenism, Knee osteoarthritis, Glomerulonephritis, Elevated...	ORPHA:1304
Hypotrichosis And Recurrent Skin Vesicles	Sparse eyebrow, Sparse body hair, Leukonychia, Sparse eyelashes, Angular cheilitis, Sparse axilla...	OMIM:613102
Bloom Syndrome	Decreased circulating IgG level, Recurrent upper respiratory tract infections, Leukemia, Hypertri...	OMIM:210900
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy	Reduced natural killer cell count, Decreased lymphocyte proliferation in response to anti-CD3, In...	OMIM:619313
Idiopathic Non-Lupus Full-House Nephropathy	Elevated circulating creatinine concentration, Reduced circulating complement concentration, Skin...	ORPHA:567544
Graft Versus Host Disease	Pneumonia, Inflammatory abnormality of the skin, Hemophagocytosis, Fasciitis, Acute hepatitis, He...	ORPHA:39812
Harlequin Ichthyosis	Congenital ichthyosiform erythroderma, Ichthyosis, Erythroderma, Recurrent respiratory infections...	ORPHA:457
Chondroitin-6-Sulfaturia, Defective Cellular Immunity, Nephrotic Syndrome	Macronodular cirrhosis, Decreased circulating IgA level, Abnormal T cell morphology	OMIM:215250
Immunodeficiency 100 With Pulmonary Alveolar Proteinosis And Hypogammaglobulinemia	Intraalveolar phospholipid accumulation, Leukocytosis, Splenomegaly, Recurrent respiratory infect...	OMIM:618042
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency	Prolonged neonatal jaundice, Jaundice, Pallor, Splenomegaly	OMIM:300908
Incontinentia Pigmenti	Sparse hair, Alopecia, Coarse hair, Keratitis, Fine hair, Supernumerary nipple, Breast aplasia, B...	OMIM:308300
Fructose-1,6-Bisphosphatase Deficiency	Elevated circulating hepatic transaminase concentration, Abnormal circulating enzyme concentratio...	ORPHA:348
Transcobalamin Ii Deficiency	Decreased circulating IgG level, Decreased circulating IgA level, Pancytopenia, Macrocytic anemia...	OMIM:275350
Keratosis Follicularis Spinulosa Decalvans, X-Linked	Sparse eyebrow, Folliculitis, Keratitis, Palmoplantar keratoderma, Nail dystrophy, Sparse eyelash...	OMIM:308800
Intrahepatic Cholestasis Of Pregnancy	Pruritus on foot, Abnormal circulating interleukin concentration, Ascites, Hyperbilirubinemia, Ch...	ORPHA:69665
Focal Facial Dermal Dysplasia Type I	Sparse lateral eyebrow, Low anterior hairline, Absent eyelashes, Distichiasis, Sparse hair	ORPHA:79133
C3 Glomerulopathy	Paraproteinemia, Elevated circulating creatinine concentration, Decreased circulating complement ...	ORPHA:329918
Ichthyosis, Congenital, Autosomal Recessive 14	Orthokeratotic hyperkeratosis, Pruritus, Hyperkeratosis, Congenital nonbullous ichthyosiform eryt...	OMIM:617571
Autosomal Dominant Epidermolytic Ichthyosis	Palmoplantar keratoderma, Ichthyosis, Erythroderma, Hyperkeratosis, Congenital bullous ichthyosif...	ORPHA:312
Ichthyosis, Congenital, Autosomal Recessive 2	Alopecia, Palmoplantar keratoderma, Small nail, Congenital ichthyosiform erythroderma, Hypergranu...	OMIM:242100
Pediatric Systemic Lupus Erythematosus	Discoid lupus rash, Nephritis, Alopecia, Microangiopathic hemolytic anemia, Ascites, Lymphopenia,...	ORPHA:93552
Bleeding Disorder, Platelet-Type, 21	Alopecia, Recurrent viral infections, Eczematoid dermatitis, Psoriasiform dermatitis, Impaired AD...	OMIM:617443
Waldenström Macroglobulinemia	Gingival bleeding, Vasculitis, Gastrointestinal hemorrhage, Epistaxis, Congestive heart failure, ...	ORPHA:33226
Refractory Celiac Disease	Hypoalbuminemia, Normocytic anemia, Inflammatory abnormality of the skin, Hypomagnesemia, Microcy...	ORPHA:398063
Smith-Kingsmore Syndrome	Decreased circulating IgA level, Thrombocytopenia, Curly hair	OMIM:616638
Hidrotic Ectodermal Dysplasia, Halal Type	Supernumerary nipple, Abnormal fingernail morphology, Sparse body hair, Abnormal toenail morpholo...	ORPHA:1809
Ectodermal Dysplasia 10A, Hypohidrotic/Hair/Nail Type, Autosomal Dominant	Sparse eyebrow, Fine hair, Ridged nail, Sparse eyelashes, Hypohidrosis, Slow-growing hair, Sparse...	OMIM:129490
Rheumatic Fever	Erythema, Epistaxis, Pallor, Arrhythmia, Myocarditis, Pericarditis	ORPHA:3099
Intellectual Developmental Disorder, Fra12A Type	Recurrent lower respiratory tract infections, Erythroderma, Hyperkeratosis	OMIM:136630
Palmoplantar Keratoderma I, Striate, Focal, Or Diffuse	Yellow nails, Palmoplantar keratoderma, Hypergranulosis, Nail dystrophy, Onycholysis, Orthokerato...	OMIM:148700
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts	Hepatosplenomegaly, Elevated circulating hepatic transaminase concentration, Pallor, Elevated hep...	ORPHA:300298
Woolly Hair, Autosomal Recessive 3	Fine hair, Trichorrhexis nodosa, Sparse eyelashes, Curly hair, Sparse hair, Sparse scalp hair	OMIM:616760
Aicardi-Goutieres Syndrome 7	Pancytopenia, Chilblains, Hepatic steatosis, Increased circulating antibody level, Hepatomegaly, ...	OMIM:615846
Lichen Planopilaris	Alopecia, Hepatitis, Abnormal fingernail morphology, Onycholysis, Pruritus, Hyperkeratosis	ORPHA:525
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Dominant	Trichiasis, Sparse eyebrow, Keratitis, Nail dystrophy, Ichthyosis, Sparse eyelashes, Nail dysplas...	OMIM:148210
Mixed-Type Autoimmune Hemolytic Anemia	Tachycardia, Pallor	ORPHA:90036
Pseudoprogeria Syndrome	Alopecia, Sparse eyebrow, Absent eyelashes, Absent eyebrow, Sparse hair, Thin skin	ORPHA:2985
Variegate Porphyria, Childhood-Onset	Atopic dermatitis, Epidermal hyperkeratosis, Increased erythrocyte protoporphyrin concentration	OMIM:620483
Sepsis In Premature Infants	Hypotension, Abnormal bleeding, Decreased liver function, Pallor, Petechiae, Splenomegaly, Bradyc...	ORPHA:90051
Infection-Related Hemolytic Uremic Syndrome	Meningitis, Hyperkalemia, Pleural empyema, Abnormal circulating chemokine concentration, Hypocalc...	ORPHA:544482
Beta-Thalassemia Major	Hepatic fibrosis, Dilated cardiomyopathy, Skin ulcer, Hepatosplenomegaly, Hypersplenism, Pallor, ...	ORPHA:231214
Chronic Nonbacterial Osteomyelitis/Chronic Recurrent Multifocal Osteomyelitis	Inflammation of the large intestine, Osteomyelitis, Psoriasiform dermatitis, Skin rash, Palmoplan...	ORPHA:324964
Ichthyosis, Congenital, Autosomal Recessive 6	Orthokeratosis, Palmoplantar keratoderma, Parakeratosis, Hypohidrosis, Erythroderma, Generalized ...	OMIM:612281
Immunodeficiency 66	Sepsis, Pustule, Defective T cell proliferation, Meningitis, Recurrent skin infections	OMIM:618847
Chronic Mucocutaneous Candidiasis	Cheilitis, Hepatitis, Recurrent respiratory infections, Recurrent urinary tract infections, Abnor...	ORPHA:1334
Coccidioidomycosis	Morbilliform rash, Abnormality of the spleen, Abscess, Erythema nodosum, Pleural empyema, Increas...	ORPHA:228123
Congenital Disorder Of Glycosylation, Type Im	Increased circulating free fatty acid level, Alopecia, Inflammatory abnormality of the skin, Spar...	OMIM:610768
Mixed Connective Tissue Disease	Alopecia, Xerostomia, Hemolytic anemia, Leukopenia, Skin rash, Splenomegaly, Joint swelling, Myos...	ORPHA:809
Osteopetrosis, Autosomal Recessive 7	Decreased circulating IgG level, Recurrent pneumonia, Decreased circulating IgA level, Splenomega...	OMIM:612301
T-Cell Lymphoma, Subcutaneous Panniculitis-Like	Facial edema, Hemophagocytosis, Increased circulating ferritin concentration, Pancytopenia, Splen...	OMIM:618398
Congenital Disorder Of Glycosylation, Type Ig	Decreased circulating IgG level, Recurrent upper respiratory tract infections, Recurrent pneumoni...	OMIM:607143
Subacute Inflammatory Demyelinating Polyneuropathy	Increased circulating IgG level, Severe infection, Leukocytosis	ORPHA:206594
Hawkinsinuria	Abnormal circulating tyrosine concentration, Sparse hair, Fine hair	ORPHA:2118
Anemia, Sideroblastic, 1	Anemic pallor	OMIM:300751
Uremic Pruritus	Renal hypophosphatemia, Hypermagnesemia, Inflammatory abnormality of the skin, Abnormal circulati...	ORPHA:94059
Inflammatory Bowel Disease, Immunodeficiency, And Encephalopathy	Hypochromic anemia, Increased circulating IgE level, Leukocytosis, Pancolitis, Eosinophilic infil...	OMIM:618213
Igg4-Related Kidney Disease	Inflammatory abnormality of the skin, Lymphadenitis, Arteritis, Increased circulating IgE level, ...	ORPHA:449395
Absence Of Fingerprints-Congenital Milia Syndrome	Thickened skin, Hypohidrosis, Skin rash, Thin skin	ORPHA:1658
Trichothiodystrophy 7, Nonphotosensitive	Tiger tail banding, Ichthyosis, Follicular hyperkeratosis, Brittle hair, Congenital nonbullous ic...	OMIM:618546
Keratosis Linearis With Ichthyosis Congenita And Sclerosing Keratoderma	Honeycomb palmoplantar hyperkeratosis, Ichthyosis, Nail dystrophy, Linear arrays of macular hyper...	OMIM:601952
Amyloidosis, Hereditary Systemic 2	Cholestasis, Splenomegaly, Skin rash, Hepatomegaly, Edema	OMIM:105200
Adult-Onset Nemaline Myopathy	Paraproteinemia, Mildly elevated creatine kinase	ORPHA:171442
Hypotrichosis With Juvenile Macular Degeneration	Fine hair, Pili torti, Brittle hair, Hyperkeratosis, Sparse scalp hair	ORPHA:1573
Congenital Disorder Of Glycosylation, Type Ia	Hypoalbuminemia, Decreased circulating IgG level, Hepatic fibrosis, Hypocholesterolemia, Decrease...	OMIM:212065
Trichothiodystrophy 8, Nonphotosensitive	Sparse hair, Sparse eyebrow, Eczematoid dermatitis, Trichorrhexis nodosa, Woolly hair	OMIM:619691
Tooth Agenesis, Selective, 8	Sparse eyebrow, Sparse hair	OMIM:617073
Vohwinkel Syndrome, Variant Form	Orthokeratosis, Honeycomb palmoplantar hyperkeratosis, Hypergranulosis, Abnormal hair morphology,...	OMIM:604117
Atrophoderma Vermiculata	Hyperkeratotic papule, Pruritus, Follicular hyperkeratosis	ORPHA:79100
Dermoodontodysplasia	Toenail dysplasia, Sparse body hair, Fingernail dysplasia, Trichodysplasia, Hypohidrosis, Sparse ...	ORPHA:1660
Woolly Hair, Hypotrichosis, Everted Lower Lip, And Outstanding Ears	Woolly hair, Sparse hair	OMIM:278200
Aredyld	Generalized hypotrichosis	OMIM:207780
Rothmund-Thomson Syndrome	Facial edema, Sparse eyebrow, Aplastic anemia, Small nail, Porokeratosis, Alopecia totalis, Malar...	ORPHA:2909
Congenital Disorder Of Glycosylation, Type Iib	Generalized edema, Long eyelashes, Decreased circulating IgA level, Hepatomegaly, Decreased circu...	OMIM:606056
Rapp-Hodgkin Syndrome	Sparse hair, Sparse eyebrow, Palmoplantar keratoderma, Small nail, Decreased number of sweat glan...	OMIM:129400
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders	Hypoalbuminemia, Decreased circulating IgG level, Bone marrow hypocellularity, Sepsis, Thickened ...	ORPHA:505248
Focal Facial Dermal Dysplasia 3, Setleis Type	Distichiasis, Sparse hair, Absent lower eyelashes, Low anterior hairline	OMIM:227260
Pachydermoperiostosis	Thickened skin, Palmoplantar keratoderma, Eczematoid dermatitis, Abnormal fingernail morphology, ...	ORPHA:2796
Pachyonychia Congenita	Onychogryposis of fingernail, Alopecia, Palmoplantar keratoderma, Onychogryposis of toenails, Fin...	ORPHA:2309
Linear Verrucous Nevus Syndrome	Hypophosphatemia, Hyperkeratosis, Sparse scalp hair	ORPHA:2611
Ichthyosis, Congenital, Autosomal Recessive 9	Orthokeratosis, Hypergranulosis, Hypohidrosis, Erythroderma, Hyperkeratosis, Congenital nonbullou...	OMIM:615023
Noonan Syndrome 6	Webbed neck, Juvenile myelomonocytic leukemia, Low posterior hairline, Curly hair, Polyhydramnios...	OMIM:613224
Agammaglobulinemia 1, Autosomal Recessive	Recurrent pneumonia, Recurrent enteroviral infections, Rectal abscess, Panhypogammaglobulinemia, ...	OMIM:601495
Riddle Syndrome	Pneumonia, Decreased circulating IgG level, Recurrent pneumonia, Recurrent viral infections, Decr...	ORPHA:420741
Mucoepithelial Dysplasia, Hereditary	Pneumonia, Recurrent pneumonia, Alopecia, Coarse hair, Chronic mucocutaneous candidiasis, Chronic...	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, Elevated circulating aspartate aminotrans...	OMIM:246450
Alopecia-Intellectual Disability Syndrome	Alopecia, Sparse body hair, Ichthyosis, Aplasia/Hypoplasia of the eyebrow, Sparse scalp hair	ORPHA:2850
Trichodysplasia-Xeroderma Syndrome	Alopecia, Coarse hair, Sparse eyebrow, Sparse body hair, Trichorrhexis nodosa, Trichodysplasia, P...	ORPHA:3361
Retinitis Pigmentosa 75	Pallor	OMIM:617023
Hypotrichosis 9	Sparse eyebrow, Sparse body hair, Hypohidrosis, Abnormal eyelash morphology, Abnormality of the n...	OMIM:614237
Acrokeratoelastoidosis Of Costa	Hyperkeratotic papule, Orthokeratosis, Hypergranulosis, Palmar hyperhidrosis, Palmoplantar hyperk...	ORPHA:38
Autosomal Erythropoietic Protoporphyria	Cholelithiasis, Eczematoid dermatitis, Microcytic anemia, Abnormal circulating porphyrin concentr...	ORPHA:79278
Congenital Analbuminemia	Hypoalbuminemia, Facial edema, Edema, Oligohydramnios, Hyperlipidemia, Increased circulating anti...	ORPHA:86816
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome	Accessory spleen, Decreased circulating IgG level, Severe B lymphocytopenia, Hepatic fibrosis, Ex...	OMIM:620005
Interstitial Lung Disease 2	Cirrhosis, Increased circulating antibody level	OMIM:178500
Classic Hodgkin Lymphoma	Bone marrow hypocellularity, Skin rash, Splenomegaly, Lymphadenopathy, Hyperhidrosis, Hepatomegal...	ORPHA:391
Inflammatory Pseudotumor Of The Liver	Biliary tract abnormality, Increased hepatitis B virus antibody level, Neoplasm of the liver, Cir...	ORPHA:90003
Bullous Impetigo	Sepsis, Abnormality of the lymphatic system, Pustule, Septic arthritis, Recurrent bacterial skin ...	ORPHA:36237
Dyskeratosis Congenita, Autosomal Dominant 1	Bone marrow hypocellularity, Alopecia, Aplastic anemia, Increased mean corpuscular volume, Premat...	OMIM:127550
Kcnq2-Related Epileptic Encephalopathy	Facial erythema, Pallor	ORPHA:439218
Myopathic Ehlers-Danlos Syndrome	Pallor	ORPHA:536516
Primary Sjögren Syndrome	Arteritis, Xerostomia, Lymphopenia, Chronic hepatitis, Decreased proportion of CD4-positive helpe...	ORPHA:289390
Hereditary Mucoepithelial Dysplasia	Alopecia, Fine hair, Recurrent respiratory infections, Sparse hair, Hyperkeratosis	ORPHA:1839
Lysinuric Protein Intolerance	Abnormality of humoral immunity, Hemophagocytosis, Hepatosplenomegaly, Increased LDL cholesterol ...	ORPHA:470
Immunodeficiency 68	Sepsis, Lymphadenitis, Abscess, T lymphocytopenia, B lymphocytopenia, Septic arthritis, Abnormal ...	OMIM:612260
Interstitial Cystitis	Urinary bladder inflammation, Elevated circulating C-reactive protein concentration, Abnormality ...	ORPHA:37202
3-Hydroxy-3-Methylglutaric Aciduria	Hypotension, Elevated circulating hepatic transaminase concentration, Dilated cardiomyopathy, Pal...	ORPHA:20
Cerebellar Ataxia-Ectodermal Dysplasia Syndrome	Sparse hair, Fine hair	ORPHA:1174
Cardiofaciocutaneous Syndrome 3	Webbed neck, Hyperkeratosis, Hyperhidrosis, Curly hair	OMIM:615279
Subcorneal Pustular Dermatosis	Pustule, Pruritus, Rheumatoid arthritis, Increased circulating antibody level	ORPHA:48377
Odontoonychodermal Dysplasia	Sparse eyebrow, Dry hair, Short nail, Dystrophic toenail, Fine hair, Sparse body hair, Orthokerat...	OMIM:257980
Dravet Syndrome	Pallor	ORPHA:33069
Chondrodysplasia Punctata 2, X-Linked Dominant	Sparse eyebrow, Congenital ichthyosiform erythroderma, Elevated 8(9)-cholestenol, Sparse eyelashe...	OMIM:302960
Cardiofaciocutaneous Syndrome 1	Atopic dermatitis, Webbed neck, Splenomegaly, Ichthyosis, Absent eyelashes, Low posterior hairlin...	OMIM:115150
Hatipoglu Immunodeficiency Syndrome	Atopic dermatitis, Thickened skin, Eczematoid dermatitis, Fair hair, Premature graying of hair, R...	OMIM:620331
Leopard Syndrome 3	Webbed neck, Low posterior hairline, Curly hair, Hyperkeratosis, Epidermal hyperkeratosis	OMIM:613707
Dyskeratosis Congenita	Periodontitis, White hair, Premature graying of hair, Cirrhosis, Hepatomegaly, Sparse hair, Alope...	ORPHA:1775
Sporadic Pheochromocytoma/Secreting Paraganglioma	Sinus tachycardia, Congestive heart failure, Positive regitine blocking test, Palpitations, Pallo...	ORPHA:276621
Xq27.3Q28 Duplication Syndrome	Sparse body hair	ORPHA:261483
Lymphatic Malformation 12	Fetal ascites, Lymphedema, Nonimmune hydrops fetalis, Neonatal death, Polyhydramnios, Hyperkerato...	OMIM:620014
Hypotrichosis 7	Abnormal sweat gland morphology, Sparse eyebrow, Sparse body hair, Sparse eyelashes, Sparse axill...	OMIM:604379
Oligoarticular Juvenile Idiopathic Arthritis	Abnormal circulating interleukin concentration, Rheumatoid arthritis, Increased circulating inter...	ORPHA:85410
Lysinuric Protein Intolerance	Intraalveolar phospholipid accumulation, Hemophagocytosis, Fine hair, Increased circulating ferri...	OMIM:222700
Acute Radiation Syndrome	Inflammatory abnormality of the skin, Lymphopenia, Interstitial pneumonitis, Thrombocytopenia, Gr...	ORPHA:454831
Syndromic Recessive X-Linked Ichthyosis	Acute leukemia, Hypohidrosis, Hyperkeratosis, Ichthyosis	ORPHA:281090
Neuropathy, Hereditary Sensory, Type If	Osteomyelitis, Hyperkeratosis	OMIM:615632
Cardiofaciocutaneous Syndrome 4	Alopecia of scalp, Sparse eyelashes, Absent eyebrow, Palmoplantar hyperkeratosis, Hyperhidrosis, ...	OMIM:615280
Kikuchi-Fujimoto Disease	Abnormal lymph node morphology, Pustule, Neutropenia, Hepatomegaly, Elevated circulating C-reacti...	ORPHA:50918
Alveolar Echinococcosis	Biliary cirrhosis, Cutaneous abscess, Abnormal mesentery morphology, Portal hypertension, Hepatic...	ORPHA:284
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities	Abnormal reticulocyte morphology, Elliptocytosis, Macrocytic anemia, Anisocytosis, Neutropenia, P...	OMIM:300835
Pruritic Urticarial Papules And Plaques Of Pregnancy	Pruritus on foot, Eczematoid dermatitis, Pruritis on breast, Parakeratosis, Pruritis on hand, Pru...	ORPHA:64745
Protoporphyria, Erythropoietic, 1	Cholelithiasis, Eczematoid dermatitis, Hypertriglyceridemia, Pruritus, Hemolytic anemia, Edema	OMIM:177000
Combined Immunodeficiency-Enteropathy Spectrum	Peritoneal abscess, Thickened skin, Hepatitis, Psoriasiform dermatitis, Alopecia of scalp, Nail d...	ORPHA:436252
Ectodermal Dysplasia 4, Hair/Nail Type	Abnormal sweat gland morphology, Alopecia, Sparse body hair, Congenital onychodystrophy, Nail dys...	OMIM:602032
Hennekam Syndrome	Chylothorax, Erysipelas, Lymphedema, Ascites, Lymphopenia, Splenomegaly, Hypocalcemia, Lymphangio...	ORPHA:2136
Rasmussen Subacute Encephalitis	Decreased circulating total IgA	ORPHA:1929
Shwachman-Diamond Syndrome	Recurrent viral infections, Aplastic anemia, Pancytopenia, Increased serum bile acid concentratio...	ORPHA:811
Gaucher Disease, Perinatal Lethal	Ascites, Hepatosplenomegaly, Splenomegaly, Ichthyosis, Nonimmune hydrops fetalis, Neonatal death,...	OMIM:608013
Lymphatic Filariasis	Predominantly lower limb lymphedema, Lymphadenitis, Opportunistic infection, Lymphedema, Opportun...	ORPHA:2035
Ichthyosis-Alopecia-Eclabion-Ectropion-Intellectual Disability Syndrome	Sparse eyebrow, Congenital alopecia totalis, Generalized hyperkeratosis, Alopecia of scalp, Absen...	ORPHA:2269
Cartilage-Hair Hypoplasia	Sparse eyebrow, Fair hair, Fine hair, Lymphopenia, Susceptibility to chickenpox, Macrocytic anemi...	OMIM:250250
Acute Generalized Exanthematous Pustulosis	Facial edema, Pruritus, Cholestasis, Predominantly dermal neutrophilic infiltrate, Leukocytosis, ...	ORPHA:293173
Congenital Muscular Dystrophy-Respiratory Failure-Skin Abnormalities-Joint Hyperlaxity Syndrome	Recurrent respiratory infections, Follicular hyperkeratosis, Mildly elevated creatine kinase	ORPHA:486815
Ectodermal Dysplasia/Skin Fragility Syndrome	Alopecia of scalp, Nail dystrophy, Absent eyelashes, Dystrophic fingernails, Absent eyebrow, Palm...	OMIM:604536
Dengue Fever	Ascites, Leukopenia, Skin rash, Thrombocytopenia, Hepatomegaly, Pruritus, Hypoproteinemia	ORPHA:99828
Common Variable Immunodeficiency	Pneumonia, Recurrent respiratory infections, Lymphopenia, Abnormality of the liver, Otitis media,...	ORPHA:1572
Monosomy 22	Thickened skin, Hepatosplenomegaly, Joint swelling, Scleroderma, Aplasia of the thymus, Seborrhei...	ORPHA:96123
Immunodeficiency 31C	Chronic mucocutaneous candidiasis, Eczematoid dermatitis, Recurrent respiratory infections, Decre...	OMIM:614162
Drug Reaction With Eosinophilia And Systemic Symptoms	Hepatitis, Angioedema, Interstitial pneumonitis, Skin rash, Infectious encephalitis, Pustule, Eos...	ORPHA:139402
Idiopathic Localized Lipodystrophy	Pruritus, Scleroderma, Inflammatory abnormality of the skin, Morphea	ORPHA:90158
Gand Syndrome	Sparse hair	OMIM:615074
Incontinentia Pigmenti	Alopecia, Ridged fingernail, Keratitis, Dystrophic toenail, Supernumerary nipple, Abnormal hair m...	ORPHA:464
Igg4-Related Submandibular Gland Disease	Facial edema, Xerostomia, Abnormal pancreas morphology, Increased circulating IgE level, Increase...	ORPHA:449432
Dubowitz Syndrome	Decreased circulating IgG level, Aplastic anemia, Eczematoid dermatitis, Sparse lateral eyebrow, ...	OMIM:223370
Familial Mediterranean Fever	Neutrophilia, Erysipelas, Pleural effusion, Splenomegaly, Leukocytosis, Crohn's disease, Orchitis...	OMIM:249100
Juvenile Arthritis	Leukocytosis, Skin rash, Thrombocytosis	OMIM:618795
Erythrokeratodermia Variabilis Et Progressiva 1	Patchy palmoplantar hyperkeratosis, Hypergranulosis, Erythroderma, Generalized hyperkeratosis	OMIM:133200
Vexas Syndrome	Arteritis, Inflammatory abnormality of the skin, Neutrophilic infiltration of the skin, Macrocyti...	OMIM:301054
Palmoplantar Keratoderma And Woolly Hair	Sparse eyebrow, Palmoplantar keratoderma, Sparse body hair, Leukonychia, Sparse eyelashes, Woolly...	OMIM:616099
Ectodermal Dysplasia-Blindness Syndrome	Fine hair, Abnormal fingernail morphology, Keratoconjunctivitis sicca, Hypohidrosis, Recurrent re...	ORPHA:1806
Dowling-Degos Disease	Hyperkeratotic papule, Acne inversa, Abnormal fingernail morphology, Arthritis, Pruritus, Hyperke...	ORPHA:79145
Acrokeratosis Verruciformis Of Hopf	Hypergranulosis, Leukonychia, Nail dystrophy, Anonychia, Punctate palmoplantar hyperkeratosis, Hy...	ORPHA:79151
Keratosis Follicularis Spinulosa Decalvans, Autosomal Dominant	Alopecia, Folliculitis, Keratitis, Sparse eyebrow, Palmoplantar keratoderma, Nail dystrophy, Spar...	OMIM:612843
Milroy Disease	Predominantly lower limb lymphedema, Toenail dysplasia, Erysipelas, Lymphedema, Hyperkeratosis, P...	ORPHA:79452
Ectodermal Dysplasia 11B, Hypohidrotic/Hair/Tooth Type, Autosomal Recessive	Absent nipple, Xerostomia, Sparse lateral eyebrow, Recurrent respiratory infections, Sparse body ...	OMIM:614941
Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome	Predominantly lower limb lymphedema, Alopecia, Sparse body hair, Ascites, Pleural effusion, Abnor...	ORPHA:69735
Ichthyosis, Congenital, Autosomal Recessive 5	Orthokeratosis, Palmoplantar keratoderma, Acanthocytosis, Parakeratosis, Erythroderma, Congenital...	OMIM:604777
Ramon Syndrome	Generalized hirsutism, Hyperkeratosis	ORPHA:3019
Ectodermal Dysplasia-Sensorineural Deafness Syndrome	Sparse hair, Brittle hair, Hyperkeratosis, Coarse hair	ORPHA:1883
Parenteral Nutrition-Associated Cholestasis	Hepatic fibrosis, Cholelithiasis, Hyperlipidemia, Splenomegaly, Hepatic steatosis, Portal hyperte...	ORPHA:567983
Woolly Hair	Sparse lateral eyebrow, Fine hair, Sparse body hair, Slow-growing hair, Brittle hair, Abnormality...	ORPHA:170
Lelis Syndrome	Yellow nails, Sparse lateral eyebrow, Nail dystrophy, Abnormal toenail morphology, Acanthosis nig...	ORPHA:140936
O'Sullivan-Mcleod Syndrome	Eosinophilia, Increased circulating antibody level	ORPHA:99965
Heyn-Sproul-Jackson Syndrome	Sparse hair	OMIM:618724
Muckle-Wells Syndrome	Recurrent aphthous stomatitis, Episcleritis, Skin rash, Splenomegaly, Ichthyosis, Hepatomegaly, A...	ORPHA:575
Generalized Juvenile Polyposis/Juvenile Polyposis Coli	Hematochezia, Anemic pallor, Abnormal bleeding	ORPHA:329971
Skeletal Dysplasia-Epilepsy-Short Stature Syndrome	Increased circulating IgE level	ORPHA:1858
Tumor Necrosis Factor Receptor 1 Associated Periodic Syndrome	Periorbital edema, Uveitis, Erysipelas, Fasciitis, Leukocytosis, Skin rash, Splenomegaly, Orchiti...	ORPHA:32960
Ifap Syndrome 2	Ichthyosis follicularis, Atrichia, Posterior blepharitis, Keratitis, Nail dystrophy, Angular chei...	OMIM:619016
Holocarboxylase Synthetase Deficiency	Perioral eczema, Alopecia, Eczematoid dermatitis, Hyperammonemia, Keratoconjunctivitis, Thrombocy...	ORPHA:79242
Autoinflammatory Syndrome, Familial, Behcet-Like 1	Lymphopenia, Skin rash, Thrombocytopenia, Colitis, Hemolytic anemia, Anterior uveitis	OMIM:616744
Generalized Pseudohypoaldosteronism Type 1	Atopic dermatitis, Cholelithiasis, Recurrent tonsillitis, Osteomyelitis, Increased circulating re...	ORPHA:171876
Menkes Disease	Alopecia, Decreased circulating ceruloplasmin concentration, Sparse hair, Brittle hair	OMIM:309400
Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome	Alopecia, Lymphedema, Sparse eyelashes, Nonimmune hydrops fetalis, Absent eyelashes, Absent eyebr...	OMIM:137940
Recessive X-Linked Ichthyosis	Hypohidrosis, Hyperkeratosis, Ichthyosis	ORPHA:461
Complement Factor I Deficiency	Decreased circulating complement factor B concentration, Recurrent urinary tract infections, Recu...	OMIM:610984
Psoriasis 2	Parakeratosis, Psoriasiform dermatitis, Hyperkeratosis	OMIM:602723
Familial Benign Copper Deficiency	Early balding, Anemia, Decreased circulating copper concentration, Acne	ORPHA:1551
Myeloma, Multiple	Paraproteinemia	OMIM:254500
Bazex-Dupré-Christol Syndrome	Sparse eyebrow, Coarse hair, Trichorrhexis nodosa, Sparse or absent eyelashes, Pili torti, Sparse...	ORPHA:113
Marburg Hemorrhagic Fever	Neutrophilia in presence of infection, Lymphopenia, Increased circulating antibody level, Jaundic...	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	Hypoalbuminemia, Alopecia, Sepsis, Palmoplantar keratoderma, Recurrent skin infections, Nail dyst...	ORPHA:79396
Filippi Syndrome	Frontal hirsutism, Sparse hair, Hypertrichosis	OMIM:272440
Propionic Acidemia	Eczematoid dermatitis, Pancytopenia, Hyperglycinemia, Hyperammonemia, Hepatomegaly, Pancreatitis,...	OMIM:606054
Schöpf-Schulz-Passarge Syndrome	Alopecia, Sparse hair, Palmoplantar keratoderma, Aplasia/Hypoplasia of the eyebrow	ORPHA:50944
New-Onset Refractory Status Epilepticus	Abnormal circulating interleukin concentration, Infectious encephalitis	ORPHA:363558
Paternal 20Q13.2Q13.3 Microdeletion Syndrome	Sparse hair, Aplasia/Hypoplasia of the eyebrow, Oligohydramnios, Thin skin	ORPHA:261304
Peeling Skin With Leukonychia, Acral Punctate Keratoses, Cheilitis, And Knuckle Pads	Leukonychia, Angular cheilitis, Onycholysis, Follicular hyperkeratosis, Punctate palmoplantar hyp...	OMIM:616295
Refractory Anemia With Excess Blasts	Retinal hemorrhage, Anemic pallor, Palpitations, Abnormal bleeding	ORPHA:86839
Cleft Lip/Palate-Ectodermal Dysplasia Syndrome	Highly arched eyebrow, Alopecia, Sparse lateral eyebrow, Dystrophic toenail, Nail dystrophy, Dyst...	ORPHA:3253
Pearson Marrow-Pancreas Syndrome	Erythema, Hepatic failure, Elevated circulating hepatic transaminase concentration, Exocrine panc...	OMIM:557000
Cone-Rod Dystrophy 8	Pallor	OMIM:605549
Tempi Syndrome	Polycythemia, Ascites, Increased hematocrit, Transudative pleural effusion, Increased circulating...	ORPHA:284227
X-Linked Hypohidrotic Ectodermal Dysplasia	Aplasia/Hypoplasia of the eyebrow, Sparse hair, Hypohidrosis, Sparse body hair	ORPHA:181
Lymphatic Malformation 4	Toenail dysplasia, Hyperkeratosis, Pedal edema, Lymphedema	OMIM:615907
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia	Decreased mean platelet volume, Inflammation of the large intestine, Recurrent pneumonia, Cervica...	OMIM:617718
Alpha-N-Acetylgalactosaminidase Deficiency Type 1	Hepatomegaly, Hyperkeratosis, Lymphedema	ORPHA:79279
Donohue Syndrome	Hepatic fibrosis, Hypertrichosis, Cholestasis, Pancreatic islet-cell hyperplasia, Nail dysplasia,...	OMIM:246200
Lead Poisoning	Abnormality of humoral immunity, Imbalanced hemoglobin synthesis, Increased circulating IgE level...	ORPHA:330015
Rift Valley Fever	Macular edema, Hepatitis, Severe viral infection, Skin rash, Infectious encephalitis, Jaundice, T...	ORPHA:319251
Cutis Laxa, Autosomal Recessive, Type Iiia	Hypoornithinemia, Hyperammonemia, Low plasma citrulline, Hypoargininemia, Hypoprolinemia, Sparse ...	OMIM:219150
Beta-Ketothiolase Deficiency	Hepatomegaly, Hypotension, Pallor, Hypertension	ORPHA:134
Gamma-Heavy Chain Disease	Rheumatoid arthritis, Abnormal lymphocyte morphology, Splenomegaly, Skin rash, Autoimmune hemolyt...	ORPHA:100026
Pachyonychia Congenita 2	Subungual hyperkeratosis, Dry hair, Folliculitis, Sparse eyebrow, Nail dystrophy, Angular cheilit...	OMIM:167210
Naxos Disease	Subungual hyperkeratosis, Sparse eyebrow, Palmoplantar keratoderma, Sparse body hair, Nail dystro...	OMIM:601214
Trichothiodystrophy	Neutropenia, Brittle hair, Split nail, Eczematoid dermatitis, Panhypogammaglobulinemia, Ridged na...	ORPHA:33364
Lujo Hemorrhagic Fever	Facial edema, Periorbital edema, Generalized edema, Severe viral infection, Lymphopenia, Leukopen...	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	Abnormal hair morphology, Abnormal fingernail morphology, Hypoplastic toenails, Deep-set nails, A...	ORPHA:3071
Lichen Planus Pemphigoides	Blepharitis, Conjunctivitis, Pruritus, Hyperkeratosis, Abnormality of the nail	ORPHA:254478
Ichthyosis, Annular Epidermolytic, 1	Orthokeratosis, Hyperparakeratosis, Abnormal hair morphology, Ichthyosis, Palmoplantar hyperkerat...	OMIM:607602
Tay-Sachs Disease	Pallor	OMIM:272800
Lassa Fever	Facial edema, Sepsis, Jaundice, Conjunctivitis, Increased circulating IgM level	ORPHA:99824
Interstitial Granulomatous Dermatitis With Arthritis	Inflammatory abnormality of the skin, Pruritus, Rheumatoid arthritis, Elevated circulating C-reac...	ORPHA:79099
Histiocytoid Cardiomyopathy	Junctional ectopic tachycardia, Atrioventricular block, Atrial flutter, Congestive heart failure,...	ORPHA:137675
Say-Barber-Miller Syndrome	Decreased circulating IgG level, Sparse eyebrow, Highly arched eyebrow, Eczematoid dermatitis, Ab...	ORPHA:3132
Trichothiodystrophy 4, Nonphotosensitive	Small nail, Trichorrhexis nodosa, Concave nail, Nail dystrophy, Sparse eyelashes, Nail dysplasia,...	OMIM:234050
Necrobiosis Lipoidica	Abnormality of neutrophil physiology, Inflammatory abnormality of the skin, Granuloma	ORPHA:542592
Chronic Granulomatous Disease	Sepsis, Abnormality of neutrophils, Eczematoid dermatitis, Otitis media, Splenomegaly, Hepatomega...	ORPHA:379
Tick-Borne Encephalitis	Unusual CNS infection, Myelitis, Leukopenia, Abnormal circulating cytokine concentration, Leukocy...	ORPHA:297
Aicardi-Goutieres Syndrome 9	Hypoalbuminemia, Hepatic fibrosis, Recurrent urinary tract infections, Ascites, Hepatosplenomegal...	OMIM:619487
Hair Defect With Photosensitivity And Impaired Intellectual Development	Sparse eyebrow, Coarse hair, Sparse eyelashes, Brittle hair, Sparse hair	OMIM:234030
Hereditary Pheochromocytoma-Paraganglioma	Sinus tachycardia, Congestive heart failure, Positive regitine blocking test, Palpitations, Pallo...	ORPHA:29072
Scrub Typhus	Skin rash, Splenomegaly, Infectious encephalitis, Lymphadenopathy, Hyperhidrosis, Myocarditis, Me...	ORPHA:83317
Focal Facial Dermal Dysplasia Type Iii	Highly arched eyebrow, Sparse lateral eyebrow, Distichiasis, Abnormal hair pattern, Sparse hair, ...	ORPHA:1807
Amelo-Onycho-Hypohidrotic Syndrome	Fine hair, Abnormal fingernail morphology, Hypoplastic toenails, Onycholysis, Hypohidrosis, Hyper...	ORPHA:1028
Idiopathic Hypereosinophilic Syndrome	Portal fibrosis, Pulmonary embolism, Elevated circulating hepatic transaminase concentration, Dil...	ORPHA:3260
Neurodevelopmental Disorder With Facial Dysmorphism, Absent Language, And Pseudo-Pelger-Huet Anomaly	Sparse eyebrow, Hyposegmentation of neutrophil nuclei, Curly hair, Sparse hair, Synophrys	OMIM:620075
Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome	Cholestatic liver disease, Inflammation of the large intestine, Granuloma, Pruritus, Cholestasis,...	ORPHA:562639
Crandall Syndrome	Alopecia, Fine hair, Sparse body hair, Brittle hair, Pili torti, Aplasia/Hypoplasia of the eyebrow	ORPHA:202
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome	Decreased circulating IgG level, Recurrent pneumonia, Decreased lymphocyte proliferation in respo...	ORPHA:508533
Mandibuloacral Dysplasia	Increased circulating free fatty acid level, Alopecia, Hypoplastic fingernail, Acanthosis nigrica...	ORPHA:2457
Phoar2-Enteropathy Syndrome	Hypoalbuminemia, Thickened skin, Seborrheic dermatitis, Hyperhidrosis, Acne	OMIM:614441
6-Pyruvoyl-Tetrahydropterin Synthase Deficiency	Pallor	ORPHA:13
Trichodental Dysplasia	Sparse hair, Slow-growing hair, Fine hair, Brittle hair	OMIM:601453
Cleft Lip/Palate-Ectodermal Dysplasia Syndrome	Atopic dermatitis, Sparse eyebrow, Dry hair, Sparse eyelashes, Nail dysplasia, Pili torti, Palmop...	OMIM:225060
Acquired Purpura Fulminans	Elevated circulating C-reactive protein concentration, Sepsis, Skin rash, Thrombocytopenia	ORPHA:49566
Epilepsy-Telangiectasia Syndrome	Decreased circulating IgA level, Decreased circulating antibody level	ORPHA:1951
Scleromyxedema	Thickened skin, Paraproteinemia, Elevated circulating creatine kinase concentration, Pruritus, Sc...	ORPHA:167635
Pseudopelade Of Brocq	Alopecia, Abnormal hair morphology, Recurrent skin infections, Aplasia/Hypoplasia of the eyebrow,...	ORPHA:129
Biotinidase Deficiency	Alopecia, Skin rash, Splenomegaly, Hyperammonemia, Seborrheic dermatitis, Hepatomegaly, Conjuncti...	OMIM:253260
Immunodeficiency 55	Absent natural killer cells, Eczematoid dermatitis, Lymphopenia, Ichthyosis, Lymphadenopathy, Neu...	OMIM:617827
Inflammatory Bowel Disease 28, Autosomal Recessive	Folliculitis, Pyoderma, Crohn's disease, Perianal abscess, Enterocolitis, Colitis	OMIM:613148
Methylmalonic Aciduria And Homocystinuria, Cblc Type	Hypotension, Decreased methylmalonyl-CoA mutase activity, Decreased methionine synthase activity,...	OMIM:277400
Reactive Arthritis	Inflammation of the large intestine, Recurrent urinary tract infections, Osteomyelitis, Recurrent...	ORPHA:29207
Bryant-Li-Bhoj Neurodevelopmental Syndrome 2	Sparse hair, Eczematoid dermatitis, Hyperconvex nail	OMIM:619721
Noonan Syndrome 14	Webbed neck, Sparse eyebrow, Lymphopenia, Low posterior hairline, Hyperhidrosis, Curly hair, Poly...	OMIM:619745
Sialidosis Type 1	Hyperkeratosis, Splenomegaly	ORPHA:812
Cardiofaciocutaneous Syndrome 2	Sparse hair, Absent eyebrow, Fine hair, Curly hair	OMIM:615278
Cardiofaciocutaneous Syndrome	Webbed neck, Palmoplantar keratoderma, Fine hair, Lymphedema, Aplasia/Hypoplasia of the eyebrow, ...	ORPHA:1340
Alopecia-Contractures-Dwarfism-Intellectual Disability Syndrome	Alopecia, Ichthyosis, Abnormal toenail morphology, Hypohidrosis, Sparse hair, Hyperkeratosis	ORPHA:1005
Antisynthetase Syndrome	Xerostomia, Skin rash, Elevated circulating creatine kinase concentration, Myositis, Keratoconjun...	ORPHA:81
Anauxetic Dysplasia 2	Nail dysplasia, Sparse hair, Small nail	OMIM:617396
Ectodermal Dysplasia 9, Hair/Nail Type	Abnormal sweat gland morphology, Abnormal sebaceous gland morphology, Atrichia, Absent hair, Nail...	OMIM:614931
Mycetoma	Pelvic mass, Osteomyelitis, Cobblestone-like hyperkeratosis, Abnormality of the lymphatic system,...	ORPHA:2583
Tetraamelia With Ectodermal Dysplasia And Lacrimal Duct Abnormalities	Sparse hair	OMIM:273390
Gaucher Disease	Splenic infarction, Cholelithiasis, Hepatitis, Increased circulating ferritin concentration, Oste...	ORPHA:355
Ectodermal Dysplasia 1, Hypohidrotic, X-Linked	Sparse eyebrow, Absent nipple, Eczematoid dermatitis, Fine hair, Sparse body hair, Anhidrosis, Co...	OMIM:305100
Peeling Skin Syndrome 4	Orthokeratosis, Palmoplantar keratoderma, Nail dystrophy, Ichthyosis, Hyperkeratosis	OMIM:607936
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome	Severe B lymphocytopenia, Coarse hair, Cholelithiasis, Eczematoid dermatitis, Pancreatic hypoplas...	ORPHA:83617
Corpus Callosum, Agenesis Of, With Facial Anomalies And Cerebellar Ataxia	Long eyelashes, Upper eyelid edema, Thick eyebrow, Low anterior hairline, Hirsutism, Sparse hair	OMIM:616819
Erythrokeratodermia Variabilis Et Progressiva 3	Orthokeratosis, Palmoplantar keratoderma, Hypergranulosis, Leukonychia, Hyperkeratosis	OMIM:617525
Eec Syndrome	Sparse eyebrow, Coarse hair, Xerostomia, Keratitis, Fine hair, Thick eyebrow, Nail dystrophy, Hyp...	ORPHA:1896
Primary Sclerosing Cholangitis	Cholestasis, Hepatosplenomegaly, Abnormal biliary tract morphology, Cirrhosis, Polyclonal elevati...	ORPHA:171
Noonan Syndrome-Like Disorder With Loose Anagen Hair 1	Loose anagen hair, Webbed neck, Eczematoid dermatitis, Long eyelashes, Ichthyosis, Curly hair, Po...	OMIM:607721
Cataracts, Hearing Impairment, Nephrotic Syndrome, And Enterocolitis 1	Bone marrow hypocellularity, Enterocolitis, Hyperkeratosis	OMIM:301108
Adams-Oliver Syndrome	Alopecia, Hypoplastic fingernail, Ascites, Leukopenia, Portal hypertension, Congenital hepatic fi...	ORPHA:974
Ichthyosis, Congenital, Autosomal Recessive 3	Palmoplantar keratoderma, Ichthyosis, Hypohidrosis, Anhidrosis, Hyperkeratosis, Congenital nonbul...	OMIM:606545
Crimean-Congo Hemorrhagic Fever	Morbilliform rash, Pancytopenia, Erythema nodosum, Neutrophilia, Hepatomegaly, Jaundice, Epididym...	ORPHA:99827
Fumarase Deficiency	Decreased fumarate hydratase activity, Intrahepatic cholestasis, Hepatic failure, Pallor	OMIM:606812
Hyper-Ige Syndrome 1, Autosomal Dominant, With Recurrent Infections	Recurrent pneumonia, Recurrent upper respiratory tract infections, Eczematoid dermatitis, Cutaneo...	OMIM:147060
Cranioectodermal Dysplasia	Abnormal fingernail morphology, Sparse hair, Abnormal toenail morphology	ORPHA:1515
Periodic Fever, Familial, Autosomal Dominant	Erysipelas, Hepatic amyloidosis, Cervical lymphadenopathy, Skin rash, Myositis, Hepatomegaly, Oli...	OMIM:142680
Ullrich Congenital Muscular Dystrophy 1A	Recurrent lower respiratory tract infections, Hyperhidrosis, Follicular hyperkeratosis, Mildly el...	OMIM:254090
Imerslund-Gräsbeck Syndrome	Abnormal bleeding, Tachycardia, Pallor	ORPHA:35858
2Q32Q33 Microdeletion Syndrome	Sparse hair, Fine hair	ORPHA:251019
Hereditary Sensory And Autonomic Neuropathy Type 1	Osteomyelitis, Hyperkeratosis	ORPHA:36386
Fanconi Anemia, Complementation Group I	Pallor	OMIM:609053
Agel Amyloidosis	Sparse hair, Xerostomia, Blepharochalasis, Nail dystrophy, Abnormal spleen morphology, Keratoconj...	ORPHA:85448
Onychotrichodysplasia And Neutropenia	Sparse pubic hair, Hypoplastic fingernail, Trichorrhexis nodosa, Curly eyelashes, Concave nail, C...	OMIM:258360
Mutilating Palmoplantar Keratoderma With Periorificial Keratotic Plaques	Thickened skin, Alopecia, Palmoplantar keratoderma, Abnormal fingernail morphology, Palmoplantar ...	ORPHA:659
Rat-Bite Fever	Sepsis, Lymphadenitis, Parotitis, Morbilliform rash, Abdominal aseptic abscess, Skin rash, Pustul...	ORPHA:31205
Yellow Fever	Opportunistic infection, Pancreatic hyperplasia, Elevated circulating creatinine concentration, H...	ORPHA:99829
Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, And Calvarial Hyperostosis	Allergic rhinitis, Exocrine pancreatic insufficiency, Splenomegaly, Skin rash, Anemia of inadequa...	OMIM:612714
Plummer-Vinson Syndrome	Pallor	ORPHA:54028
Al Amyloidosis	Hypoalbuminemia, Howell-Jolly bodies, Xerostomia, Abnormality of the liver, Peripheral edema, Inc...	ORPHA:85443
Sarcoidosis, Susceptibility To, 1	Inflammation of the large intestine, Pancytopenia, Pleural effusion, Splenomegaly, Abnormality of...	OMIM:181000
Neurodevelopmental Disorder With Speech Delay And Variable Ocular Anomalies	Sparse eyebrow, Sparse hair	OMIM:619989
Gaucher Disease Type 3	Pancytopenia, Splenomegaly, Increased circulating antibody level, Hepatomegaly, Anemia, Thrombocy...	ORPHA:77261
Ectodermal Dysplasia-Skin Fragility Syndrome	Sparse hair, Alopecia universalis, Recurrent pneumonia, Sepsis, Palmoplantar keratoderma, Chapped...	ORPHA:158668
Childhood Absence Epilepsy	Pallor	ORPHA:64280
Sarcoidosis, Susceptibility To, 2	Pleural effusion, Splenomegaly, Erythema nodosum, Hepatomegaly, Mediastinal lymphadenopathy, Bron...	OMIM:612387
Progeroid Syndrome, Petty Type	Abnormal hair morphology, Thick eyebrow, Long eyelashes in irregular rows, Generalized hirsutism,...	ORPHA:2963
Peeling Skin Syndrome 5	Hyperkeratosis	OMIM:617115
19Q13.11 Microdeletion Syndrome	Sparse lateral eyebrow, Fine hair, Supernumerary nipple, Sparse or absent eyelashes, Nail dysplas...	ORPHA:217346
Mycosis Fungoides	Pruritus, Psoriasiform dermatitis, Eczematoid dermatitis, Lymphadenopathy	OMIM:254400
Igg4-Related Pachymeningitis	Nephritis, Lymphadenitis, Parotitis, Increased circulating IgG4 level, Reduced circulating comple...	ORPHA:449427
Hydrocephalus-Obesity-Hypogonadism Syndrome	Low posterior hairline, Absent facial hair, Sparse facial hair	ORPHA:2183
Palmoplantar Carcinoma, Multiple Self-Healing	Palmoplantar keratoderma, Nail dystrophy, Chronic rhinitis, Parakeratosis, Follicular hyperkeratosis	OMIM:615225
Eem Syndrome	Absent eyebrow, Sparse scalp hair, Sparse body hair	ORPHA:1897
Macs Syndrome	Alopecia, Sparse eyebrow, Recurrent aphthous stomatitis, Ichthyosis, Palpebral edema, Sparse hair...	OMIM:613075
Desbuquois Syndrome	Abnormal eyelash morphology, Sparse hair	ORPHA:1425
Blepharocheilodontic Syndrome 1	High anterior hairline, Small nail, Nail dysplasia, Distichiasis, Sparse hair	OMIM:119580
Cardiocranial Syndrome, Pfeiffer Type	Abnormal hair whorl, Sparse hair	ORPHA:2872
Witkop Syndrome	Abnormal sweat gland morphology, Fine hair, Ridged nail, Concave nail, Hypoplastic fifth toenail,...	OMIM:189500
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome	Abnormal hair morphology, Scleritis, Absent eyebrow, Sparse hair, Hyperkeratosis, Abnormality of ...	ORPHA:2273
Braddock-Carey Syndrome 1	Sparse hair, Thrombocytopenia, Curly hair	OMIM:619980
Von Hippel-Lindau Disease	Cardiomyopathy, Palpitations, Pallor, Neoplasm of the pancreas, Arrhythmia, Pancreatic islet cell...	ORPHA:892
Methylmalonic Aciduria And Homocystinuria, Cblf Type	Cystathioninemia, Elevated circulating propionylcarnitine concentration, Pancytopenia, Skin rash,...	OMIM:277380
Peeling Skin Syndrome 6	Atopic dermatitis, Pruritus, Orthokeratosis, Parakeratosis	OMIM:618084
Mucolipidosis Ii Alpha/Beta	Increased serum beta-hexosaminidase, Recurrent pneumonia, Sparse eyebrow, Recurrent otitis media,...	OMIM:252500
Short Stature, Microcephaly, And Endocrine Dysfunction	Abnormal circulating lipid concentration, Lymphopenia, Acanthosis nigricans, Anemia, Sparse hair	OMIM:616541
Infantile Digital Fibromatosis	Parakeratosis, Hyperkeratosis	ORPHA:199267
Non-Acquired Isolated Growth Hormone Deficiency	Prolonged neonatal jaundice, Sparse hair	ORPHA:631
Japanese Encephalitis	Infectious encephalitis, Pulmonary edema, Increased circulating antibody level, Hyponatremia, Cer...	ORPHA:79139
Gjc2-Related Late-Onset Primary Lymphedema	Facial edema, Predominantly lower limb lymphedema, Genital edema, Hypoplasia of lymphatic vessels...	ORPHA:568051
Igg4-Related Ophthalmic Disease	Periorbital edema, Keratitis, Increased circulating IgE level, Increased circulating IgG4 level, ...	ORPHA:449563
Subacute Cutaneous Lupus Erythematosus	Discoid lupus rash, Cheilitis, Malar rash, Hyperkeratosis	ORPHA:163525
Primary Microcephaly-Mild Intellectual Disability-Young-Onset Diabetes Syndrome	Synophrys, Sparse hair, Fine hair, Low anterior hairline	ORPHA:391408
Ifap Syndrome 1, With Or Without Bresheck Syndrome	Neonatal death, Absent eyelashes, Erythroderma, Absent eyebrow, Follicular hyperkeratosis, Recurr...	OMIM:308205
Methylmalonate Semialdehyde Dehydrogenase Deficiency	Sparse hair, Methylmalonic acidemia	OMIM:614105
Leukocyte Adhesion Deficiency	Lymphocytic interstitial pneumonia, Impaired neutrophil chemotaxis, Acute myeloid leukemia, Glome...	ORPHA:2968
Reynolds Syndrome	Biliary cirrhosis, Cholestasis, Lymphopenia, Hyperbilirubinemia, Splenomegaly, Scleroderma, Calci...	OMIM:613471
Fanconi Anemia, Complementation Group S	Anemia, Long eyelashes, Sparse hair, Low anterior hairline	OMIM:617883
Trichorhinophalangeal Syndrome, Type Iii	Sparse hair, Sparse lateral eyebrow, Fine hair, Epidermal hyperkeratosis	OMIM:190351
Hereditary Folate Malabsorption	Pallor	ORPHA:90045
Kawasaki Disease	Hypoalbuminemia, Hepatitis, Abnormality of nail color, Cervical lymphadenopathy, Thrombocytosis, ...	ORPHA:2331
Rhizomelic Chondrodysplasia Punctata	Alopecia, Ichthyosis, Sparse body hair	ORPHA:177
Reynolds Syndrome	Xerostomia, Ascites, Skin rash, Infectious encephalitis, Keratoconjunctivitis sicca, Cirrhosis, A...	ORPHA:779
Fg Syndrome 3	Sparse hair, Frontal upsweep of hair, Fine hair	OMIM:300406
Ichthyosis, Spastic Quadriplegia, And Impaired Intellectual Development	Congenital nonbullous ichthyosiform erythroderma, Hyperkeratosis, Ichthyosis	OMIM:614457
Acrokeratosis Verruciformis	Ridged nail, Acrokeratosis, Punctate palmoplantar hyperkeratosis, Acantholysis, Hyperkeratosis	OMIM:101900
Ectodermal Dysplasia/Short Stature Syndrome	Palmoplantar keratoderma, Anonychia, Nail dystrophy, Hyperkeratosis	OMIM:616029
Microcephaly, Short Stature, And Impaired Glucose Metabolism 2	Sparse hair, Fine hair	OMIM:616817
Aredyld Syndrome	Hepatomegaly, Aplasia/Hypoplasia of the eyebrow, Splenomegaly, Sparse body hair	ORPHA:1133
Intellectual Developmental Disorder, Autosomal Dominant 65	Low posterior hairline, Thin eyebrow, Sparse hair, Synophrys	OMIM:619320
Tetrasomy 12P	Sparse eyebrow, Sparse hair, Hypohidrosis	ORPHA:884
Xp22.13P22.2 Duplication Syndrome	Recurrent upper respiratory tract infections, Sparse hair, High anterior hairline	ORPHA:284180
Rothmund-Thomson Syndrome Type 1	Facial edema, Aplastic anemia, Leukemia, Porokeratosis, Alopecia totalis, Sparse or absent eyelas...	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	Pneumonia, Increased circulating free fatty acid level, Inflammatory abnormality of the skin, Hyp...	ORPHA:26793
Pityriasis Rubra Pilaris	Subungual hyperkeratosis, Orthokeratosis, Palmoplantar keratoderma, Hypergranulosis, Parakeratosis	OMIM:173200
Ichthyosis, Congenital, Autosomal Recessive 8	Orthokeratosis, Ichthyosis, Hyperkeratosis, Hypergranulosis	OMIM:613943
Okur-Chung Neurodevelopmental Syndrome	Decreased circulating IgG level, Highly arched eyebrow, Decreased circulating IgA level, Polyhydr...	OMIM:617062
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome	Bone marrow hypocellularity, Recurrent upper respiratory tract infections, Eczematoid dermatitis,...	ORPHA:508542
Werner Syndrome	Abnormal hair whorl, Premature graying of hair, White forelock, Pili torti, Hyperkeratosis, Spars...	ORPHA:902
Urban-Rogers-Meyer Syndrome	Increased circulating IgE level	ORPHA:3409
Centrifugal Lipodystrophy	Alopecia, Inflammatory abnormality of the skin, Lymphadenitis	ORPHA:90156
Noonan Syndrome-Like Disorder With Or Without Juvenile Myelomonocytic Leukemia	Webbed neck, Highly arched eyebrow, Chylothorax, Juvenile myelomonocytic leukemia, Fine hair, Lym...	OMIM:613563
Ichthyotic Keratoderma, Spasticity, Hypomyelination, And Dysmorphic Facial Features	Xerostomia, Ichthyosis, Parakeratosis, Acanthosis nigricans, Hyperkeratosis	OMIM:618527
Trichinellosis	Facial edema, Increased circulating IgE level, Skin rash, Meningitis, Periorbital edema, Conjunct...	ORPHA:863
Lipodystrophy, Generalized, With Impaired Intellectual Development, Deafness, Short Stature, And Slender Bones	Sparse axillary hair, Sparse facial hair	OMIM:608154
Infantile Cataract, Skin Abnormalities, Glutamate Excess, And Impaired Intellectual Development	Parakeratosis, Hyperkeratosis	OMIM:618339
Congenital Disorder Of Glycosylation, Type If	Erythroderma, Hyperkeratosis	OMIM:609180
Cartilage-Hair Hypoplasia	Sparse eyebrow, Decreased circulating antibody level, Hypocalcemia, Hepatomegaly, Neutropenia, An...	ORPHA:175
Acrofacial Dysostosis, Palagonia Type	Sparse lateral eyebrow, Thin eyebrow, Low anterior hairline, Sparse eyelashes, Pili torti, Sparse...	ORPHA:1787
Myopathy, Mitochondrial, And Ataxia	Pallor	OMIM:617675
Cranioectodermal Dysplasia 2	Sparse hair, Recurrent pneumonia, Sparse eyebrow, Portal fibrosis, Biliary cirrhosis, Polysplenia...	OMIM:613610
Sheehan Syndrome	Dry skin, Palpitations, Pallor, Orthostatic hypotension, Bradycardia	ORPHA:91355
Listeriosis	Arteritis, Abscess, Pustule, Meningitis, Jaundice, Endocarditis, Unusual CNS infection, Unusual s...	ORPHA:533
Zinc Deficiency, Transient Neonatal	Alopecia, Eczematoid dermatitis, Decreased serum zinc	OMIM:608118
Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects	Alopecia, Orthokeratosis, Small nail, Congenital ichthyosiform erythroderma, Elevated 8(9)-choles...	OMIM:308050
Glycosylphosphatidylinositol Biosynthesis Defect 25	Sparse hair, Coarse hair	OMIM:619985
Rothmund-Thomson Syndrome Type 2	Facial edema, Aplastic anemia, Leukemia, Porokeratosis, Alopecia totalis, Sparse or absent eyelas...	ORPHA:221016
Adenohypophysitis	Pallor, Orthostatic hypotension	ORPHA:95512
Leprosy	Alopecia, Sparse body hair, Abnormality of the spleen, Abnormality of the liver, Loss of eyelashe...	ORPHA:548
Methylmalonic Acidemia With Homocystinuria Type Cblf	Elevated circulating palmitoleylcarnitine concentration, Skin rash, Reduced number of intrahepati...	ORPHA:79284
Shukla-Vernon Syndrome	Sparse hair	OMIM:301029
Johnson Neuroectodermal Syndrome	Alopecia, Absent eyelashes, Hypohidrosis, Absent eyebrow, Sparse hair	ORPHA:2316
Congenital Short Bowel Syndrome	Sparse hair	ORPHA:2301
Primary Triglyceride Deposit Cardiomyovasculopathy	Inflammatory abnormality of the skin, Hyperlipidemia, Splenomegaly, Elevated circulating creatine...	ORPHA:565612
Joubert Syndrome 37	Hepatomegaly, Sparse hair	OMIM:619185
Cerebroretinal Microangiopathy With Calcifications And Cysts 1	Bone marrow hypocellularity, Fine hair, Premature graying of hair, Nail dystrophy, Nail dysplasia...	OMIM:612199
Pituitary Apoplexy	Hypertension, Hypotension, Pallor	ORPHA:95613
Hermansky-Pudlak Syndrome 9	Leukopenia, Recurrent skin infections, Abnormal platelet aggregation, Thrombocytopenia	OMIM:614171
Yao Syndrome	Uveitis, Inflammatory abnormality of the skin, Xerostomia, Skin rash, Keratoconjunctivitis sicca,...	OMIM:617321
Spinocerebellar Ataxia 42, Early-Onset, Severe, With Neurodevelopmental Deficits	Sparse hair, Hirsutism	OMIM:618087
Seborrhea-Like Dermatitis With Psoriasiform Elements	Seborrheic dermatitis, Hyperkeratosis	OMIM:610227
Panhypophysitis	Pallor, Orthostatic hypotension	ORPHA:95513
Retinitis Pigmentosa, Deafness, Impaired Intellectual Development, 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	Hypotension, Pallor	ORPHA:91349
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly	Sparse hair, Hepatic fibrosis, Fine hair, Ascites, Nail dysplasia, Aplasia/Hypoplasia of the eyeb...	OMIM:614091
Premature Aging Syndrome, Penttinen Type	Thickened skin, Corneal stromal edema, Palmoplantar hyperkeratosis, Sparse hair, Hyperkeratosis, ...	OMIM:601812
Tricho-Retino-Dento-Digital Syndrome	Sparse hair, Uncombable hair	ORPHA:1264
Wiskott-Aldrich Syndrome	Inflammation of the large intestine, Abnormal eosinophil morphology, Acute leukemia, Microcytic a...	ORPHA:906
Neurodevelopmental Disorder With Spasticity, Seizures, And Brain Abnormalities	Sparse hair	OMIM:620001
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate	Palmoplantar keratoderma, Supernumerary nipple, Sparse body hair, Anhidrosis, Nail dystrophy, Spa...	OMIM:106260
Alternating Hemiplegia Of Childhood	Cardiomyopathy, Abnormal T-wave, Pallor, Cardiac conduction abnormality, Arrhythmia	ORPHA:2131
Revesz Syndrome	Bone marrow hypocellularity, Ridged fingernail, Aplastic anemia, Fine hair, Nail dystrophy, Macro...	OMIM:268130
Bainbridge-Ropers Syndrome	Highly arched eyebrow, Supernumerary nipple, Thin eyebrow, Long eyelashes, Thick eyebrow, Hirsuti...	OMIM:615485
Short Stature, Hearing Loss, Retinitis Pigmentosa, And Distinctive Facies	Patchy alopecia, Sparse hair	OMIM:617763
Palmoplantar Hyperkeratosis With Squamous Cell Carcinoma Of Skin And 46,Xx Sex Reversal	Palmoplantar keratoderma, Small nail, Nail dystrophy, Orthokeratotic hyperkeratosis, Hypercholest...	OMIM:610644
Neuroblastoma	Abnormal bleeding, Anemic pallor, Increased circulating lactate dehydrogenase concentration, Hype...	ORPHA:635
Melkersson-Rosenthal Syndrome	Inflammatory abnormality of the skin, Lymphadenopathy, Periorbital edema, Cheilitis, Edema	ORPHA:2483
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1	Sparse pubic hair, Sparse eyebrow, Xerostomia, Fair hair, Sparse eyelashes, Nail dysplasia, Hypop...	OMIM:129900
White Sponge Nevus 2	Hyperparakeratosis, Edema	OMIM:615785
Dyskeratosis Congenita, Autosomal Recessive 6	Bone marrow hypocellularity, Alopecia, Sparse hair, Nail dystrophy	OMIM:616353
Autosomal Recessive Cutis Laxa Type 2, Classic Type	Abnormal circulating apolipoprotein concentration, Sparse hair, Thick hair, Coarse hair	ORPHA:357074
Tubulointerstitial Nephritis And Uveitis Syndrome	Posterior uveitis, Normocytic anemia, Nongranulomatous uveitis, Panuveitis, Macular edema, Elevat...	ORPHA:91500
Anemia, Sideroblastic, And Spinocerebellar Ataxia	Pallor	OMIM:301310
Muscular Dystrophy, Congenital, Davignon-Chauveau Type	Follicular hyperkeratosis	OMIM:617066
Jaberi-Elahi Syndrome	Sparse eyebrow, Fine hair, Sparse eyelashes, Brittle hair, Sparse hair	OMIM:617988
Chromosome 5P13 Duplication Syndrome	Low posterior hairline, Sparse hair	OMIM:613174
Intellectual Developmental Disorder, Autosomal Dominant 54	Eczematoid dermatitis, Anhidrosis, Neutropenia, Thin nail, Sparse hair	OMIM:617799
Frontonasal Dysplasia 2	Sparse eyebrow, Fine hair, Alopecia totalis, Oligohydramnios, Sparse eyelashes, Hypohidrosis, Spa...	OMIM:613451
Holocarboxylase Synthetase Deficiency	Hyperammonemia, Alopecia, Skin rash, Thrombocytopenia	OMIM:253270
Nicolaides-Baraitser Syndrome	Dry hair, Eczematoid dermatitis, Sparse medial eyebrow, Hypertrichosis, Long eyelashes, Ichthyosi...	OMIM:601358
Noonan Syndrome 10	Webbed neck, Sparse eyebrow, Increased nuchal translucency, Pleural effusion, Left ventricular hy...	OMIM:616564
Hypotrichosis-Intellectual Disability, Lopes Type	Sparse hair	ORPHA:2266
Familial Mediterranean Fever	Erysipelas, Ascites, Leukocytosis, Skin rash, Splenomegaly, Orchitis, Peritonitis, Pancreatitis, ...	ORPHA:342
Ectodermal Dysplasia 10B, Hypohidrotic/Hair/Tooth Type, Autosomal Recessive	Sparse eyebrow, Sparse eyelashes, Hypohidrosis, Anhidrosis, Sparse hair	OMIM:224900
Monosomy 18Q	Decreased circulating IgA level, Low anterior hairline	ORPHA:1600
Pachyonychia Congenita 3	Palmoplantar keratoderma, Chapped lip, Onychogryposis of toenails, Nail dystrophy, Follicular hyp...	OMIM:615726
Hypotrichosis 13	Abnormal sweat gland morphology, Sparse hair, Woolly hair, Sparse eyelashes	OMIM:615896
Liver Disease, Severe Congenital	Dry hair, Portal inflammation, Recurrent otitis media, Hyperbilirubinemia, Hepatic steatosis, Pul...	OMIM:619991
Kindler Epidermolysis Bullosa	Inflammation of the large intestine, Periodontitis, Palmoplantar keratoderma, Esophagitis, Recurr...	ORPHA:2908
Mandibuloacral Dysplasia With Type B Lipodystrophy	Alopecia, Sparse hair, Hyperlipidemia, Brittle hair	OMIM:608612
Zygomycosis	Pustule, Acute infectious pneumonia, Neutropenia, Periorbital edema, Endocarditis, Unusual skin i...	ORPHA:73263
Chromosome 19Q13.11 Deletion Syndrome, Distal	Sparse eyebrow, Sparse eyelashes, Nail dysplasia, Recurrent infections, Sparse hair	OMIM:613026
Prolactinoma	Hypotension, Pallor	ORPHA:2965
Marshall Syndrome	Sparse eyebrow, Sparse eyelashes, Hypohidrosis, Osteoarthritis, Sparse hair	ORPHA:560
Biotinidase Deficiency	Alopecia, Recurrent viral infections, Eczematoid dermatitis, Recurrent candida infections, Skin r...	ORPHA:79241
Adult Syndrome	Absent nipple, Eczematoid dermatitis, Fair hair, Breast hypoplasia, Alopecia of scalp, Sparse axi...	OMIM:103285
Fabry Disease	Abnormal circulating lipid concentration, Lymphedema, Hyperlipidemia, Left ventricular hypertroph...	ORPHA:324
Juvenile Dermatomyositis	Alopecia, Skin rash, Elevated circulating creatine kinase concentration, Myositis, Arthritis, Cal...	ORPHA:93672
Noonan Syndrome 2	Webbed neck, Sparse eyebrow, Leukemia, Increased nuchal translucency, Nonimmune hydrops fetalis, ...	OMIM:605275
Inflammatory Bowel Disease 25, Autosomal Recessive	Folliculitis, Recurrent bronchitis, Pancolitis, Perianal abscess, Enterocolitis	OMIM:612567
Pachyonychia Congenita 1	Follicular hyperkeratosis, Palmoplantar hyperkeratosis, Nail dystrophy, Onychogryposis	OMIM:167200
Scarf Syndrome	Webbed neck, Low posterior hairline, Hypoplastic nipples, Hepatocellular adenoma, Sparse hair	ORPHA:3134
Neonatal Inflammatory Skin And Bowel Disease	Blepharitis, Horizontal eyebrow, Chapped lip, Chronic monilial nail infection, Psoriasiform derma...	ORPHA:294023
Porokeratosis 7, Multiple Types	Parakeratosis, Porokeratosis	OMIM:614714
Porokeratosis 1, Multiple Types	Parakeratosis, Porokeratosis	OMIM:175800
Encephalitis Lethargica	Recurrent viral infections, Increased circulating antibody level	ORPHA:83600
Granulomatosis With Polyangiitis	Periorbital edema, Otitis media, Skin rash, Increased inflammatory response, Prostatitis, Pancrea...	ORPHA:900
Fucosidosis	Generalized hyperkeratosis, Abnormality of the gallbladder, Cardiomegaly, Hyperhidrosis, Hepatome...	ORPHA:349
Scalp-Ear-Nipple Syndrome	Thickened skin, Sparse pubic hair, Fine hair, Breast aplasia, Pyelonephritis, Nail dysplasia, Pat...	OMIM:181270
Hermansky-Pudlak Syndrome	Thickened skin, Long eyelashes, Neutropenia, Hypopigmentation of hair, Hyperkeratosis	ORPHA:79430
Ichthyosis, Annular Epidermolytic, 2	Orthokeratosis, Palmoplantar hyperkeratosis, Palmoplantar keratoderma, Ichthyosis	OMIM:620148
Sabinas Brittle Hair Syndrome	Dry hair, Nail dystrophy, Nail dysplasia, Brittle hair, Sparse hair	OMIM:211390
Basel-Vanagaite-Smirin-Yosef Syndrome	Recurrent pneumonia, Sparse hair	OMIM:616449
Oculocutaneous Albinism Type 1A	Albinism, Thickened skin, Hypopigmentation of hair, Hyperkeratosis	ORPHA:79431
Dermatomyositis	Periorbital edema, Alopecia, Abnormal eosinophil morphology, Heliotrope rash, Skin rash, Elevated...	ORPHA:221
Down Syndrome	Polycythemia, Acute megakaryocytic leukemia, Abnormality of the lymphatic system, Thrombocytopeni...	ORPHA:870
Autosomal Recessive Malignant Osteopetrosis	Bruising susceptibility, Pallor, Splenomegaly, Pulmonary arterial hypertension, Hepatomegaly	ORPHA:667
Aicardi-Goutières Syndrome	Neonatal alloimmune thrombocytopenia, Increased circulating interferon-gamma concentration, Hepat...	ORPHA:51
Trichorhinophalangeal Syndrome Type 1	Sparse eyebrow, Leukonychia, Sparse eyelashes, Sparse hair, Fragile nails	ORPHA:77258
Lmna-Related Cardiocutaneous Progeria Syndrome	Alopecia universalis, Premature graying of hair, Scleroderma, Absent eyelashes, Abnormal intrahep...	ORPHA:363618
Noonan Syndrome-Like Disorder With Loose Anagen Hair 2	Webbed neck, Highly arched eyebrow, High anterior hairline, Coarse hair, Sparse lateral eyebrow, ...	OMIM:617506
Pemphigus Foliaceus	Psoriasiform dermatitis, Crusting erythematous dermatitis, Pustule, Erythroderma, Acantholysis, P...	ORPHA:79481
Leprechaunism	Thickened skin, Facial hypertrichosis, Hypertrichosis, Hypokalemia, Acanthosis nigricans, Enlarge...	ORPHA:508
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 3	Sparse eyebrow, Sparse pubic hair, Xerostomia, Fair hair, Facial hirsutism, Nail dystrophy, Spars...	OMIM:604292
Ectodermal Dysplasia 11A, Hypohidrotic/Hair/Tooth Type, Autosomal Dominant	Absent nipple, Absent hair, Anhidrosis, Hypohidrosis, Brittle hair, Sparse hair	OMIM:614940
Arthrogryposis And Ectodermal Dysplasia	Trichiasis, Nail dysplasia, Trichodysplasia, Hypohidrosis, Absent eyebrow, Hyperkeratosis	OMIM:601701
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome	Decreased circulating total IgM, Decreased circulating IgA level, Hypercalcemia, Hypertriglycerid...	ORPHA:369837
Cerebrooculofacioskeletal Syndrome 2	Sparse hair	OMIM:610756
Intellectual Developmental Disorder, X-Linked, Syndromic 33	Toenail dysplasia, Eczematoid dermatitis, Hirsutism, Sparse hair, Chronic otitis media, Synophrys	OMIM:300966
Tooth Agenesis, Selective, 4	Sparse eyebrow, Sparse scalp hair, Dystrophic toenail, Sparse body hair, Dystrophic fingernails, ...	OMIM:150400
Garg-Mishra Progeroid Syndrome	Sparse hair, Small nail, Microvesicular hepatic steatosis	OMIM:620601
Hamamy Syndrome	Sparse eyebrow, Hypochromic anemia, Sparse lateral eyebrow, Abnormal number of hair whorls, Micro...	OMIM:611174
Auriculocondylar Syndrome 2B	Sparse hair, Synophrys	OMIM:620458
Borjeson-Forssman-Lehmann Syndrome	Sparse hair, Thick eyebrow	ORPHA:127
Multiple Endocrine Neoplasia Type 2	Hypertensive crisis, Palpitations, Pallor, Hypertension associated with pheochromocytoma, Neoplas...	ORPHA:653
Kaufman Oculocerebrofacial Syndrome	Sparse eyebrow, Hypocholesterolemia, Recurrent infections, Sparse hair, Thin skin	OMIM:244450
Phosphoribosylpyrophosphate Synthetase Superactivity	Recurrent infections, Sparse hair, Gout, Hyperuricemia	OMIM:300661
Oculodentodigital Dysplasia	Palmoplantar keratoderma, Fine hair, Abnormal fingernail morphology, Curly hair, Slow-growing hai...	ORPHA:2710
Tyrosinemia Type 2	Hyperhidrosis, Palmoplantar keratoderma, Abnormality of the nail, Hyperkeratosis	ORPHA:28378
Cranioectodermal Dysplasia 1	Malformation of the hepatic ductal plate, Hepatic fibrosis, Short nail, Fine hair, Hypocalcemia, ...	OMIM:218330
Autosomal Dominant Palmoplantar Keratoderma And Congenital Alopecia	Generalized hypotrichosis, Sparse eyebrow, Palmoplantar keratoderma, Absent hair, Trichorrhexis n...	ORPHA:1010
Hyperpigmentation With Or Without Hypopigmentation, Familial Progressive	Hyperkeratosis	OMIM:145250
Xeroderma Pigmentosum	Thickened skin, Alopecia, Keratitis, Hyperkeratosis, Blepharitis, Thin skin	ORPHA:910
ERI1-related disease	Sparse hair, Anonychia, Low anterior hairline	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
Chromosome Xq27.3-Q28 Duplication Syndrome	Sparse body hair	OMIM:300869
Calcific Aortic Disease With Immunologic Abnormalities, Familial	Increased circulating antibody level	OMIM:114065
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate Syndrome	Sparse eyebrow, Coarse hair, Palmoplantar keratoderma, Dystrophic toenail, Supernumerary nipple, ...	ORPHA:1071
Hallermann-Streiff Syndrome	Alopecia, Sparse eyebrow, Abdominal situs inversus, Sparse body hair, Sparse eyelashes, Abnormali...	ORPHA:2108
Hallermann-Streiff Syndrome	Recurrent pneumonia, Sparse eyebrow, Fine hair, Sparse eyelashes, Recurrent respiratory infection...	OMIM:234100
Palmoplantar Keratoderma, Punctate Type Ia	Orthokeratosis, Punctate palmoplantar hyperkeratosis, Hypergranulosis	OMIM:148600
Sapho Syndrome	Inflammation of the large intestine, Osteomyelitis, Psoriasiform dermatitis, Skin rash, Palmoplan...	ORPHA:793
Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Impaired Intellectual Development, And Ear Anomalies Syndrome	Webbed neck, Highly arched eyebrow, Sparse lateral eyebrow, Fine hair, Acute lymphoblastic leukem...	OMIM:280000
Tsh-Secreting Pituitary Adenoma	Hypotension, Congestive heart failure, Palpitations, Pallor, Supraventricular arrhythmia, Ventric...	ORPHA:91347
Chime Syndrome	Acute leukemia, Fine hair, Ichthyosis, Sparse hair, Hyperkeratosis	ORPHA:3474
Atypical Werner Syndrome	Abnormal hair whorl, Alopecia, Premature graying of hair, Abnormal hair morphology, Sparse body h...	ORPHA:79474
Cysticercosis	Increased anti-parasite IgE antibody level, Infectious encephalitis, Iridocyclitis, Increased cir...	ORPHA:1560
White-Sutton Syndrome	Recurrent infections, Sparse hair	OMIM:616364
Glass Syndrome	Nail dysplasia, Long eyelashes, Sparse hair, Thin skin	OMIM:612313
Fanconi Anemia, Complementation Group E	Anemic pallor, Bruising susceptibility	OMIM:600901
Koolen-De Vries Syndrome Due To A Point Mutation	Alopecia, Fair hair, Eczematoid dermatitis, Recurrent urinary tract infections, Recurrent otitis ...	ORPHA:363965
17Q21.31 Microdeletion Syndrome	Alopecia, Fair hair, Eczematoid dermatitis, Recurrent urinary tract infections, Recurrent otitis ...	ORPHA:363958
Degcags Syndrome	Cholestasis, Hepatosplenomegaly, Pallor, Pulmonary arterial hypertension, Abnormal spleen morphol...	OMIM:619488
Blau Syndrome	Posterior uveitis, Keratitis, Xerostomia, Abnormality of the liver, Skin rash, Splenomegaly, Join...	ORPHA:90340
Severe Generalized Junctional Epidermolysis Bullosa	Pneumonia, Alopecia, Sepsis, Dehydration, Recurrent urinary tract infections, Pyoderma, Nail dyst...	ORPHA:79404
Igg4-Related Thyroid Disease	Increased circulating IgG4 level, Hypocalcemia, Sclerosing cholangitis, Hashimoto thyroiditis, Pa...	ORPHA:64744
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 2	Elevated circulating alpha-fetoprotein concentration, Elevated circulating creatine kinase concen...	OMIM:606002
Cutis Laxa, Autosomal Recessive, Type Iiib	Sparse hair, Fine hair, Thin skin	OMIM:614438
Menkes Disease	Thickened skin, Sepsis, Osteomyelitis, Woolly hair, Prolonged neonatal jaundice, Hypopigmentation...	ORPHA:565
Aapoaiv Amyloidosis	Paraproteinemia, Elevated circulating creatinine concentration, Hyperlipidemia	ORPHA:439232
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type	Hyperkeratosis	ORPHA:163966
Intellectual Developmental Disorder, Autosomal Dominant 66	Sparse hair	OMIM:619910
Ruijs-Aalfs Syndrome	Hepatocellular carcinoma, Sparse hair, Premature graying of hair	OMIM:616200
Stuve-Wiedemann Syndrome 1	Oligohydramnios, Hyperhidrosis, Recurrent infections, Sparse hair, Thin skin	OMIM:601559
Fanconi Anemia, Complementation Group A	Anemic pallor, Bruising susceptibility	OMIM:227650
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome	Sparse eyebrow, Absent nipple, Small nail, Nail dystrophy, Prolonged neonatal jaundice, Aplasia o...	OMIM:620186
Scarf Syndrome	Webbed neck, Low anterior hairline, Low posterior hairline, Hypoplastic nipples, Sparse hair	OMIM:312830
Mandibuloacral Dysplasia Progeroid Syndrome	Sparse eyebrow, Nail dystrophy, Left ventricular hypertrophy, Palmoplantar hyperkeratosis, Hypert...	OMIM:619127
Congenital Disorder Of Glycosylation, Type Iia	Long eyelashes, Sparse hair, Thick eyebrow, Hirsutism	OMIM:212066
Chikungunya	Facial edema, Cervical lymphadenopathy, Skin rash, Joint swelling, Infectious encephalitis, Crust...	ORPHA:324625
Rodrigues Blindness	Sparse hair, Fine hair	OMIM:268320
Sarcoidosis	Abnormal lymph node morphology, Erythema nodosum, Hepatomegaly, Tubulointerstitial nephritis, Alo...	ORPHA:797
Viss Syndrome	Atopic dermatitis, Alopecia, Eczematoid dermatitis, Increased circulating IgE level, Chronic gast...	OMIM:619472
Short Syndrome	Alopecia, Sparse hair	ORPHA:3163
Tylosis With Esophageal Cancer	Diffuse palmoplantar hyperkeratosis, Parakeratosis, Follicular hyperkeratosis	OMIM:148500
Rothmund-Thomson Syndrome, Type 2	Alopecia, Sparse eyebrow, Annular pancreas, Premature graying of hair, Nail dystrophy, Sparse eye...	OMIM:268400
Marshall-Smith Syndrome	Highly arched eyebrow, Recurrent upper respiratory tract infections, Aspiration pneumonia, Hypert...	OMIM:602535
Gapo Syndrome	Alopecia, Sparse eyebrow, Breast hypoplasia, Sparse eyelashes, Nail dysplasia, Hypoplastic nipple...	OMIM:230740
Male Hypergonadotropic Hypogonadism-Intellectual Disability-Skeletal Anomalies Syndrome	Sparse body hair	ORPHA:2234
Simpson-Golabi-Behmel Syndrome	Webbed neck, Small nail, Polysplenia, Supernumerary nipple, Increased circulating IgE level, Sple...	ORPHA:373
Punctate Palmoplantar Keratoderma Type 1	Hyperkeratotic papule, Orthokeratosis, Palmoplantar keratoderma, Hypergranulosis, Pancreatic aden...	ORPHA:79501
Oculodentodigital Dysplasia	Dry hair, Fine hair, Fragile nails, Slow-growing hair, Sparse hair, Uveitis	OMIM:164200
Scalp-Ear-Nipple Syndrome	Recurrent urinary tract infections, Breast aplasia, Abnormal fingernail morphology, Pyelonephriti...	ORPHA:2036
Oculodentodigital Dysplasia, Autosomal Recessive	Sparse hair, Fine hair, Sparse eyelashes	OMIM:257850
Lipodystrophy, Familial Partial, Type 7	Pleural effusion, Recurrent pancreatitis, Acanthosis nigricans, Hypercholesterolemia, Hypertrigly...	OMIM:606721
Satb2-Associated Syndrome Due To A Chromosomal Rearrangement	Sparse hair, Fine hair	ORPHA:251028
Fanconi Anemia, Complementation Group C	Anemic pallor, Bruising susceptibility	OMIM:227645
Fanconi Anemia, Complementation Group D2	Anemic pallor, Annular pancreas, Bruising susceptibility	OMIM:227646
Leptospirosis	Hepatitis, Pleural effusion, Skin rash, Optic neuritis, Jaundice, Lymphadenopathy, Thrombocytopen...	ORPHA:509
Plague	Inflammation of the large intestine, Sepsis, Lymphadenitis, Chapped lip, Enlarged mesenteric lymp...	ORPHA:707
Diamond-Blackfan Anemia 1	Tricuspid stenosis, Elevated red cell adenosine deaminase activity, Pallor, Congestive heart failure	OMIM:105650
De Barsy Syndrome	Sparse hair, Recurrent sinopulmonary infections, Thin skin	ORPHA:2962
Microcephalic Osteodysplastic Primordial Dwarfism, Type I	Sparse eyebrow, Fine hair, Oligohydramnios, Hyperbilirubinemia, Sparse eyelashes, Stillbirth, Pro...	OMIM:210710
Retinitis Pigmentosa With Or Without Skeletal Anomalies	Sparse eyebrow, High anterior hairline, Small nail, Sparse eyelashes, Sparse hair	OMIM:250410
Weaver Syndrome	Fine hair, Sparse hair, Thin nail, Deep-set nails	OMIM:277590
Alacrima, Achalasia, And Impaired Intellectual Development Syndrome	High anterior hairline, Hypohidrosis, Hyperkeratosis	OMIM:615510
Nablus Mask-Like Facial Syndrome	Highly arched eyebrow, Sparse eyebrow, Frontal upsweep of hair, Sparse eyelashes, Absent eyelashe...	OMIM:608156
Esophageal Atresia	Pallor	ORPHA:1199
Cockayne Syndrome B	Dry hair, Abnormal hair morphology, Splenomegaly, Anhidrosis, Hepatomegaly, Sparse hair	OMIM:133540
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum	Pneumonia, Trichiasis, Inflammatory abnormality of the skin, Keratitis, Sepsis, Xerostomia, Acant...	ORPHA:95455
Hawkinsinuria	Sparse hair, Hypertyrosinemia	OMIM:140350
Cockayne Syndrome A	Dry hair, Splenomegaly, Thymic hormone decreased, Anhidrosis, Hepatomegaly, Sparse hair	OMIM:216400
Familial Benign Chronic Pemphigus	Acantholysis, Hyperkeratosis	ORPHA:2841
Osteogenesis Imperfecta, Type Xx	Highly arched eyebrow, Sparse hair, Sparse lateral eyebrow	OMIM:618644
Hypotrichosis 14	Sparse pubic hair, Sparse body hair, Absent axillary hair, Sparse hair, Short eyelashes	OMIM:618275
Peripartum Cardiomyopathy	Increased circulating interferon-gamma concentration	ORPHA:563
Intellectual Disability-Myopathy-Short Stature-Endocrine Defect Syndrome	Sparse body hair	ORPHA:3068
Orofaciodigital Syndrome Type 1	Alopecia, Coarse hair, Exocrine pancreatic insufficiency, Pancreatic cysts, Brittle hair, Sparse ...	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	Highly arched eyebrow, Sparse eyebrow, Sparse lateral eyebrow, Recurrent urinary tract infections...	OMIM:619841
Malakoplakia	Inflammatory abnormality of the skin, Urinary bladder inflammation, Skin rash, Follicular hyperpl...	ORPHA:556
Chondrodysplasia Punctata, Autosomal Dominant	Hyperkeratosis with erythema, Sparse hair, Coarse hair	OMIM:118650
Wiedemann-Rautenstrauch Syndrome	Aplasia/Hypoplasia of the nails, Sparse hair, Recurrent urinary tract infections, Recurrent otiti...	ORPHA:3455
Cranioectodermal Dysplasia 3	Short nail, Fine hair, Cirrhosis, Broad nail, Sparse hair	OMIM:614099
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 2	Sparse hair	OMIM:615349
Opitz-Kaveggia Syndrome	Sparse hair, Frontal upsweep of hair, Fine hair	OMIM:305450
Goldberg-Shprintzen Syndrome	Highly arched eyebrow, Sparse hair, Thick eyebrow, Synophrys	OMIM:609460
Teebi-Shaltout Syndrome	Highly arched eyebrow, Sparse hair, Slow-growing hair, Low anterior hairline	OMIM:272950
Costello Syndrome	Webbed neck, Concave nail, Deep-set nails, Acanthosis nigricans, Thin nail, Curly hair, Polyhydra...	OMIM:218040
Craniolenticulosutural Dysplasia	Sparse hair, Coarse hair, Brittle hair	ORPHA:50814
Short Stature, Onychodysplasia, Facial Dysmorphism, And Hypotrichosis	Breast hypoplasia, Sparse hair, Small nail, Nail dysplasia	OMIM:614813
Short Stature, Brachydactyly, Impaired Intellectual Development, And Seizures	Frontal hirsutism, Eczematoid dermatitis, Recurrent urinary tract infections, Polyhydramnios, Spa...	OMIM:617157
Mosaic Variegated Aneuploidy Syndrome 2	Sparse hair	OMIM:614114
Ablepharon Macrostomia Syndrome	Fine hair, Breast hypoplasia, Absent eyelashes, Abnormal hair pattern, Absent eyebrow, Sparse hai...	ORPHA:920
Orofaciodigital Syndrome I	Hepatic fibrosis, Alopecia, Dry hair, Pancreatic cysts, Hepatic cysts, Sparse hair	OMIM:311200
Cerebellar-Facial-Dental Syndrome	Sparse eyebrow, Sparse hair, Fine hair	ORPHA:444072
Microcephaly, Developmental Delay, And Brittle Hair Syndrome	Sparse hair, Fine hair, Brittle hair	OMIM:618891
Trichorhinophalangeal Syndrome, Type Ii	Recurrent pneumonia, Recurrent upper respiratory tract infections, Recurrent otitis media, Chroni...	OMIM:150230
Ramon Syndrome	Juvenile rheumatoid arthritis, Hyperkeratosis, Hypertrichosis	OMIM:266270
Singleton-Merten Syndrome 2	Hyperkeratosis	OMIM:616298
Myhre Syndrome	Thickened skin, Fine hair, Thick eyebrow, Pericardial effusion, Sparse hair	OMIM:139210
Craniolenticulosutural Dysplasia	Sparse hair, Coarse hair, Brittle hair	OMIM:607812
Restrictive Dermopathy 1	Sparse eyebrow, Short nail, Stillbirth, Epidermal hyperkeratosis, Oligohydramnios, Sparse eyelash...	OMIM:275210
Restrictive Dermopathy	Webbed neck, Sparse eyebrow, Short nail, Generalized hyperkeratosis, Sparse or absent eyelashes, ...	ORPHA:1662
Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome	Sparse pubic hair, Alopecia, Sparse eyebrow, Abnormal eyebrow morphology, Breast hypoplasia, Alop...	ORPHA:2232
De Sanctis-Cacchione Syndrome	Conjunctivitis, Keratitis, Parakeratosis	OMIM:278800
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 1	Recurrent pneumonia, Follicular hyperkeratosis, Thin skin	OMIM:225400
Intellectual Developmental Disorder, Autosomal Dominant 68	Recurrent infections, Sparse hair, Hepatic steatosis	OMIM:619934
Oligodontia-Colorectal Cancer Syndrome	Short eyelashes, Sparse body hair, Sparse axillary hair, Absent eyebrow, Sparse scalp hair	OMIM:608615
Alpha-N-Acetylgalactosaminidase Deficiency Type 2	Cardiomegaly, Hyperkeratosis, Lymphedema	ORPHA:79280
Roberts Syndrome	Polyhydramnios, Sparse hair, Thrombocytopenia	ORPHA:3103
Proteus Syndrome	Thickened skin, Thymus hyperplasia, Lymphedema, Generalized hyperkeratosis, Neoplasm of the thymu...	ORPHA:744
Congenital Total Pulmonary Venous Return Anomaly	Right ventricular failure, Tricuspid regurgitation, Pallor, Mitral regurgitation, Pulmonary arter...	ORPHA:99125
Lenz-Majewski Hyperostotic Dwarfism	Sparse hair, Thin skin	OMIM:151050
Goodpasture Syndrome	Pulmonary hemorrhage, Pallor	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
Familial Keratoacanthoma	Hyperkeratosis	ORPHA:493
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3	Pallor	OMIM:253280
Woodhouse-Sakati Syndrome	Alopecia, Sparse hair, Hyperlipidemia, Fine hair	OMIM:241080
6Q Terminal Deletion Syndrome	Highly arched eyebrow, Hyperkeratosis, Low anterior hairline	ORPHA:75857
Kyphoscoliotic Ehlers-Danlos Syndrome	Synophrys, Follicular hyperkeratosis, Thin skin	ORPHA:536545
Normosmic Congenital Hypogonadotropic Hypogonadism	Breast hypoplasia, Sparse body hair	ORPHA:432
Global Developmental Delay-Osteopenia-Ectodermal Defect Syndrome	Thickened skin, Thick eyebrow, Hypoplastic sweat glands, Orthokeratotic hyperkeratosis, Epidermal...	ORPHA:73223
Kanzaki Disease	Hyperkeratosis, Lymphedema	OMIM:609242
Warburg-Cinotti Syndrome	Follicular hyperkeratosis, Joint swelling, Sterile abscess, Thin skin	OMIM:618175
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 2	Polyhydramnios, Follicular hyperkeratosis	OMIM:614557
Focal Dermal Hypoplasia	Supernumerary nipple, Ridged nail, Absent toenail, Nail dystrophy, Nail dysplasia, Patchy alopeci...	OMIM:305600
Ablepharon-Macrostomia Syndrome	Hypoplastic fingernail, Absent eyelashes, Hypoplastic nipples, Absent eyebrow, Sparse hair, Thin ...	OMIM:200110
Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii	Loss of eyelashes, Thin eyebrow, Alopecia, Sparse hair	ORPHA:2636
Wrinkly Skin Syndrome	Sparse hair, Recurrent sinopulmonary infections, High nonceruloplasmin-bound serum copper	ORPHA:2834
Herpes Simplex Virus Encephalitis	Leukocytosis, Hyponatremia, Neutrophilia, Elevated circulating C-reactive protein concentration, ...	ORPHA:1930
Renpenning Syndrome 1	Sparse hair, Sparse lateral eyebrow, Brittle hair	OMIM:309500
Cowden Syndrome	Enlarged polycystic ovaries, Palmoplantar keratoderma, Generalized hyperkeratosis	ORPHA:201
46,Xy Difference Of Sex Development Due To Isolated 17,20-Lyase Deficiency	Enlarged polycystic ovaries, Sparse axillary hair, Sparse pubic hair, Sparse body hair	ORPHA:90796
Pallister-Killian Syndrome	Webbed neck, Sparse eyebrow, Alopecia, Supernumerary nipple, Sparse anterior scalp hair, Anhidros...	OMIM:601803
Neurocardiofaciodigital Syndrome	Sparse eyebrow, Sparse hair	OMIM:619869
Roberts-Sc Phocomelia Syndrome	Accessory spleen, Biliary tract abnormality, Stillbirth, Polyhydramnios, Sparse hair	OMIM:268300
Menke-Hennekam Syndrome 1	Long eyelashes, Recurrent upper respiratory tract infections, Sparse hair, Thick eyebrow	OMIM:618332
Branchiooculofacial Syndrome	Supernumerary nipple, Premature graying of hair, Hypoplastic fingernail, Ectopic thymus tissue, W...	OMIM:113620
Primrose Syndrome	Sparse body hair, Dystrophic fingernails, Absent axillary hair, Absent facial hair, Synophrys, Sp...	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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