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Gene: Psmb10 MGI:1096380

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Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:
proteasome (prosome, macropain) subunit, beta type 10
Synonyms:
Mecl-1,  Mecl1

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 Psmb10 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.

The table below shows human diseases associated to Psmb10 by orthology or direct annotation.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Proteasome-Associated Autoinflammatory Syndrome 5
Hypertriglyceridemia, Skin rash, Hepatomegaly, Splenomegaly OMIM:619175

The table below shows human diseases predicted to be associated to Psmb10 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Carbimazole Sensitivity
Drug-induced agranulocytosis OMIM:212060
Immunodeficiency, Partial Combined, With Absence Of Hla Determinants And Beta-2-Microglobulin From Lymphocytes
Decreased circulating IgG level, Recurrent candida infections, Recurrent bacterial infections, T ... OMIM:242870
Immunodeficiency 24
Defective T cell proliferation, Reduced proportion of mucosal-associated invariant T cells, Parti... OMIM:615897
Wiskott-Aldrich Syndrome 2
Defective T cell proliferation, Decreased proportion of CD8-positive T cells, Recurrent infection... OMIM:614493
Immunodeficiency 105
Decreased circulating total IgM, Impaired lymphocyte transformation with phytohemagglutinin, Panc... OMIM:619924
Immunodeficiency 15A
Recurrent otitis media, Decreased proportion of CD8-positive T cells, Chronic mucocutaneous candi... OMIM:618204
Combined Immunodeficiency, X-Linked
Pneumocystis carinii pneumonia, Decreased proportion of CD8-positive T cells, Abnormal natural ki... OMIM:312863
Immunodeficiency 116
Recurrent viral infections, Absence of CD8-positive T cells, Recurrent bacterial infections, Recu... OMIM:608957
Combined Cellular And Humoral Immune Defects With Granulomas
Decreased circulating IgG level, Recurrent respiratory infections, B lymphocytopenia, T lymphocyt... OMIM:233650
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation
Alopecia of scalp, Pneumonia, Hepatomegaly, Panhypogammaglobulinemia, B lymphocytopenia, Increase... OMIM:602450
Immunodeficiency 79
Decreased proportion of CD4-positive T cells, Recurrent otitis media, Recurrent upper respiratory... OMIM:619238
Immunodeficiency 18
Defective T cell proliferation, Decreased circulating total IgM, Recurrent otitis media, Decrease... OMIM:615615
Immunodeficiency, Common Variable, 5
Chronic decreased circulating total IgG, Abnormal T cell count, Abnormal B cell count, Recurrent ... OMIM:613495
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells
Decreased helper T cell proportion, Pancytopenia, Cutaneous anergy, Splenomegaly, Hypersplenism OMIM:183350
Agammaglobulinemia 7, Autosomal Recessive
Abnormal T cell morphology, Panhypogammaglobulinemia, Erythema nodosum, Agammaglobulinemia, Reduc... OMIM:615214
Immunodeficiency 102
Recurrent sinusitis, Leukopenia, Increased proportion of CD8-positive, alpha-beta TEMRA T cells, ... OMIM:301082
Immunodeficiency 112
BCGitis, Recurrent lower respiratory tract infections, Decreased proportion of gamma-delta T cell... OMIM:620449
Immunodeficiency 97 With Autoinflammation
Hypertriglyceridemia, Granuloma, Splenomegaly, Lymphopenia, Monocytopenia, Reduced natural killer... OMIM:619802
Lymphoproliferative Syndrome 3
Lymphadenopathy, Decreased circulating antibody level, Partial absence of specific antibody respo... OMIM:618261
Undritz Anomaly
Hypersegmentation of neutrophil nuclei OMIM:191500
Kerion Celsi
Lymphadenopathy, Inflammatory abnormality of the skin, Recurrent cutaneous abscess formation, Rec... ORPHA:499
Immunodeficiency 8 With Lymphoproliferation
Chronic oral candidiasis, Recurrent otitis media, Recurrent lower respiratory tract infections, C... OMIM:615401
T-Cell Immunodeficiency With Thymic Aplasia
Reduced delayed hypersensitivity, Pyoderma, Aplasia of the thymus, T lymphocytopenia, Eczematoid ... OMIM:242700
Immunodeficiency 48
Recurrent candida infections, Pneumocystis carinii pneumonia, Impaired lymphocyte transformation ... OMIM:269840
Monocyte Chemotactic Disorder
Cutaneous anergy OMIM:252250
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency
Skin rash, Sinusitis, Splenomegaly, Aplasia of the thymus, Lymphopenia, Decreased circulating IgG... OMIM:102700
Severe Combined Immunodeficiency Due To Foxn1 Deficiency
T lymphocytopenia ORPHA:169095
Immunodeficiency 15B
Chronic oral candidiasis, Decreased circulating antibody level, Agammaglobulinemia, Monocytosis, ... OMIM:615592
Immunodeficiency, Common Variable, 4
Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc... OMIM:613494
Reticular Dysgenesis
Sepsis, Congenital agranulocytosis, Lack of T cell function, Hypoplasia of the thymus, Impaired T... OMIM:267500
Immunodeficiency 11A
Recurrent respiratory infections, Pneumocystis jirovecii pneumonia, Decreased circulating antibod... OMIM:615206
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency
Decreased proportion of CD3-positive T cells, Skin rash, Recurrent bacterial skin infections, Lym... ORPHA:276
Immunodeficiency 52
Defective T cell proliferation, Lymphadenopathy, Abnormal natural killer cell count, Decreased ci... OMIM:617514
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant
Decreased proportion of class-switched memory B cells, Recurrent ear infections, Increased propor... OMIM:615513
Immunodeficiency 50
Recurrent urinary tract infections, Decreased circulating antibody level, Lymphopenia, Recurrent ... OMIM:300988
Immunodeficiency, X-Linked, With Deficiency Of 115,000 Dalton Surface Glycoprotein
Abnormality of T cell physiology, Recurrent viral infections, Recurrent protozoan infections, Rec... OMIM:308220
Immunodeficiency 57 With Autoinflammation
Perianal abscess, Gastritis, B lymphocytopenia, Skin rash, Decreased circulating antibody level, ... OMIM:618108
Immunodeficiency 103, Susceptibility To Fungal Infections
Chronic oral candidiasis, Deep dermatophytosis, Lymphadenopathy, Abnormal natural killer cell cou... OMIM:212050
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency
Neonatal sepsis, Increased circulating antibody level, Decreased proportion of CD3-positive T cel... ORPHA:169154
Immunodeficiency 85 And Autoimmunity
Decreased circulating total IgM, Decreased circulating IgE, T lymphocytopenia, Eczematoid dermati... OMIM:619510
Retinal Telangiectasia And Hypogammaglobulinemia
Reduced delayed hypersensitivity, Decreased circulating IgG level OMIM:267900
T-Cell Immunodeficiency With Thymic Aplasia
Chronic otitis media, Chronic oral candidiasis, Lymphadenopathy, Thyroiditis, Decreased proportio... ORPHA:83471
Hyper-Ige Syndrome 4A, Autosomal Dominant, With Recurrent Infections
Increased circulating IgE level, Chronic mucocutaneous candidiasis, Cutaneous abscess, Atopic der... OMIM:619752
Immunodeficiency 19
Recurrent otitis media, Abnormal B cell morphology, Abnormal natural killer cell morphology, T ly... OMIM:615617
Autoinflammation With Infantile Enterocolitis
Increased circulating ferritin concentration, Anemia, Elevated circulating C-reactive protein con... OMIM:616050
Severe Combined Immunodeficiency, X-Linked
Chronic oral candidiasis, Hepatomegaly, Impaired lymphocyte transformation with phytohemagglutini... OMIM:300400
Cernunnos-Xlf Deficiency
Anemia, B lymphocytopenia, Decreased circulating antibody level, T lymphocytopenia, Recurrent vir... ORPHA:169079
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome
Reduced delayed hypersensitivity, Decreased proportion of CD8-positive T cells, Increased circula... OMIM:617241
Immunodeficiency 104
Recurrent otitis media, Hepatomegaly, Lymphadenopathy, Chronic mucocutaneous candidiasis, T lymph... OMIM:608971
Immunodeficiency, Common Variable, 3
Recurrent otitis media, Decreased proportion of class-switched memory B cells, Chronic decreased ... OMIM:613493
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia
Decreased specific anti-polysaccharide antibody level, Recurrent otitis media, Decreased CD4:CD8 ... OMIM:300853
Immunodeficiency 51
Chronic oral candidiasis, Recurrent otitis media, Chronic mucocutaneous candidiasis, Abnormal lym... OMIM:613953
Immunodeficiency, Ovarian Dysgenesis, And Pulmonary Fibrosis
Decreased proportion of CD8-positive T cells, Decreased circulating IgG level, Decreased proporti... OMIM:611926
Hyper-Ige Syndrome 5, Autosomal Recessive, With Recurrent Infections
Recurrent otitis media, Increased circulating interleukin 6 concentration, Decreased proportion o... OMIM:618944
Autoimmune Lymphoproliferative Syndrome, Type Iii
Increased circulating antibody level, Recurrent sinusitis, Splenomegaly, Hepatosplenomegaly, Incr... OMIM:615559
Myelolymphatic Insufficiency
Recurrent viral infections, Leukopenia, Recurrent bacterial infections, Hyposegmentation of neutr... OMIM:310350
Caspase 8 Deficiency
Reduced CD95-induced lymphocyte apoptosis, Lymphadenopathy, Complete or near-complete absence of ... OMIM:607271
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency
Agammaglobulinemia, Hypoplasia of the thymus, Lymphopenia OMIM:200900
Immunodeficiency 43
Lung abscess, B lymphocytopenia, Hypoproteinemia, Bronchiectasis, Decreased circulating IgG level... OMIM:241600
Immunodeficiency 21
Aplastic anemia, Anemia, Neutropenia, B lymphocytopenia, Lymphopenia, Monocytopenia, Reduced natu... OMIM:614172
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency
Recurrent otitis media, B lymphocytopenia, Increased circulating IgE level, Lack of T cell functi... ORPHA:277
Agammaglobulinemia 2, Autosomal Recessive
Abnormal T cell morphology, Recurrent otitis media, Recurrent respiratory infections, Recurrent p... OMIM:613500
Immunodeficiency 115 With Autoinflammation
Intestinal lymphangiectasia, Anemia, Partial absence of specific antibody response to Haemophilus... OMIM:620632
T-Cell Lymphopenia, Infantile, With Or Without Nail Dystrophy, Autosomal Dominant
Abnormally low T cell receptor excision circle level, Recurrent upper respiratory tract infection... OMIM:618806
Immunodeficiency 20
Recurrent sinusitis, Reduced natural killer cell count, Reduced natural killer cell activity, Rec... OMIM:615707
Neutropenia-Monocytopenia-Deafness Syndrome
Abnormal macrophage morphology, Abnormality of neutrophils ORPHA:2690
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy
Hypertriglyceridemia, Increased circulating ferritin concentration, Impaired lymphocyte transform... OMIM:619313
Hyper-Ige Syndrome 2, Autosomal Recessive, With Recurrent Infections
Decreased circulating total IgM, Recurrent otitis media, Sclerosing cholangitis, Increased circul... OMIM:243700
Immunodeficiency, Common Variable, 1
Recurrent otitis media, Hepatomegaly, Lymphadenopathy, Decreased proportion of class-switched mem... OMIM:607594
Myeloproliferative Syndrome, Transient
Leukocytosis, Transient myeloproliferative syndrome OMIM:159595
Classic Mycosis Fungoides
Hepatomegaly, Lymphadenopathy, Abnormality of the nail, Skin rash, Abnormal lymphocyte morphology... ORPHA:2584
Agammaglobulinemia 3, Autosomal Recessive
Abnormal T cell morphology, Recurrent otitis media, Absent isohemagglutinin level, Recurrent lowe... OMIM:613501
Immunodeficiency 72 With Autoinflammation And Lymphoproliferation
Recurrent otitis media, Lymphadenopathy, Increased circulating IgG level, Herpes simplex encephal... OMIM:618982
22q11 deletion syndrome (Velocardiofacial / DiGeorge syndrome)
T lymphocytopenia DECIPHER:16
Immunodeficiency 13
Recurrent otitis media, B lymphocytopenia, T lymphocytopenia, Decreased proportion of CD4-positiv... OMIM:615518
Immunodeficiency 109 With Lymphoproliferation
Hypertriglyceridemia, Pancytopenia, Complete or near-complete absence of specific antibody respon... OMIM:620282
Immunodeficiency With Hyper-Igm, Type 3
Decreased circulating IgE, Impaired Ig class switch recombination, Decreased circulating IgG leve... OMIM:606843
Pgm3-Cdg
Chronic otitis media, Decreased proportion of CD3-positive T cells, Reduced antigen-specific T ce... ORPHA:443811
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease
Hypertriglyceridemia, Increased circulating ferritin concentration, Anemia, Acute myeloid leukemi... ORPHA:158057
T-Cell Immunodeficiency, Congenital Alopecia, And Nail Dystrophy
Decreased helper T cell proportion, T lymphocytopenia OMIM:601705
Immunodeficiency 53
Recurrent otitis media, Impaired lymphocyte transformation with phytohemagglutinin, Skin rash, Re... OMIM:617585
Omenn Syndrome
Hepatomegaly, Anemia, Lymphadenopathy, B lymphocytopenia, Hypoproteinemia, Erythroderma, Hypoplas... OMIM:603554
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency
Chronic oral candidiasis, Acute otitis media, Impaired lymphocyte transformation with phytohemagg... ORPHA:35078
Immunodeficiency, Common Variable, 2
Recurrent otitis media, Hepatomegaly, Lymphadenopathy, Partial absence of specific antibody respo... OMIM:240500
Graham Little-Piccardi-Lassueur Syndrome
Perifollicular hyperkeratosis, Sparse scalp hair, Sparse pubic hair, Sparse axillary hair, Prurit... ORPHA:505
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia
B lymphocytopenia, Decreased circulating IgG level, Abnormally low T cell receptor excision circl... OMIM:618987
Immunodeficiency 25
Autoimmune hemolytic anemia, Recurrent candida infections, Increased circulating IgG level, Compl... OMIM:610163
Immunodeficiency Due To Interleukin-1 Receptor-Associated Kinase-4 Deficiency
Recurrent staphylococcal infections, Recurrent streptococcus pneumoniae infections, Recurrent bac... ORPHA:70592
Hypohidrotic Ectodermal Dysplasia With Immunodeficiency
Nail dystrophy, Recurrent otitis media, Absent peripheral lymph nodes in presence of infection, A... ORPHA:98813
Immunodeficiency 95
Increased circulating IgG3 level, Recurrent viral upper respiratory tract infections, Recurrent v... OMIM:619773
Benign Cephalic Histiocytosis
Skin rash, Inflammatory abnormality of the skin, Histiocytosis ORPHA:157997
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative
Recurrent otitis media, Impaired lymphocyte transformation with phytohemagglutinin, Absent periph... OMIM:600802
Candidiasis, Familial, 1
Alopecia, Chronic mucocutaneous candidiasis, Cutaneous anergy, Abnormality of the endocrine system OMIM:114580
Agammaglobulinemia 4, Autosomal Recessive
Abnormal T cell morphology, Recurrent otitis media, Decreased circulating IgG level, Recurrent pn... OMIM:613502
Sézary Syndrome
Nail dystrophy, Hepatomegaly, Palmoplantar keratoderma, Abnormal immunoglobulin level, Lymphadeno... ORPHA:3162
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity
T lymphocytopenia, Enlarged tonsils, Cellulitis, Psoriasiform dermatitis, Type I diabetes mellitu... OMIM:606367
Systemic Lupus Erythematosus 17
Decreased circulating complement C3 concentration, Myelitis, Malar rash, Optic neuritis, Thromboc... OMIM:301080
Autoimmune Disease, Multisystem, Infantile-Onset, 3
Autoimmune hemolytic anemia, Decreased circulating total IgM, Increased circulating interleukin 6... OMIM:620430
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia
Recurrent otitis media, Partial absence of specific antibody response to Haemophilus influenzae t... OMIM:618986
Alpha-Heavy Chain Disease
Dysgammaglobulinemia, Hepatomegaly, Anemia, Lymphadenopathy, Hypocalcemia, Splenomegaly, Alopecia ORPHA:100025
Combined Immunodeficiency Due To Zap70 Deficiency
Autoimmune hemolytic anemia, Chronic oral candidiasis, Decreased proportion of CD8-positive T cel... ORPHA:911
Agammaglobulinemia 8A, Autosomal Dominant
Recurrent otitis media, Recurrent infections, B lymphocytopenia, Post-vaccination polio, Agammagl... OMIM:616941
B-Cell Expansion With Nfkb And T-Cell Anergy
Increased B cell count, Splenomegaly, Decreased circulating total IgM, Decreased circulating IgA ... OMIM:616452
Immunodeficiency 64 With Lymphoproliferation
Autoimmune hemolytic anemia, Defective T cell proliferation, Mediastinal lymphadenopathy, Lymphad... OMIM:618534
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency
Autoimmune hemolytic anemia, Decreased circulating total IgM, Hepatomegaly, Abnormal natural kill... ORPHA:331206
Persistent Polyclonal B-Cell Lymphocytosis
Lymphocytosis, Decreased circulating total IgM, Hepatomegaly, Splenomegaly OMIM:606445
Acne Inversa, Familial, 3
Recurrent cutaneous abscess formation, Acne inversa, Chronic furunculosis, Perifolliculitis OMIM:613737
Chilblain Lupus
Increased circulating antibody level, Malar rash, Skin rash, Discoid lupus rash, Hyperkeratosis, ... ORPHA:90280
Lymphoproliferative Syndrome, X-Linked, 2
Aplastic anemia, Hypertriglyceridemia, Hepatomegaly, Hemophagocytosis, Pancytopenia, Decreased ci... OMIM:300635
Immunodeficiency 62
Decreased circulating total IgM, Complete or near-complete absence of specific antibody response ... OMIM:618459
Immunodeficiency 76
Lymphadenopathy, B lymphocytopenia, T lymphocytopenia, Recurrent pneumonia, Splenomegaly, Lymphop... OMIM:619164
Immunodeficiency 17
Autoimmune hemolytic anemia, Chronic oral candidiasis, Recurrent otitis media, Decreased proporti... OMIM:615607
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive
Failure to thrive secondary to recurrent infections, Panhypogammaglobulinemia, B lymphocytopenia,... OMIM:601457
Hepatic Venoocclusive Disease With Immunodeficiency
Abnormality of the liver, Absence of lymph node germinal center, Decreased circulating IgG level OMIM:235550
Immunodeficiency 78 With Autoimmunity And Developmental Delay
Autoimmune hemolytic anemia, Fluctuating splenomegaly, Recurrent otitis media, Lymphadenopathy, I... OMIM:619220
Hyper-Ige Syndrome 3, Autosomal Recessive, With Recurrent Infections
Chronic oral candidiasis, Recurrent otitis media, Sterile abscess, Increased circulating IgE leve... OMIM:618282
Combined Immunodeficiency Due To Dock8 Deficiency
Recurrent candida infections, B lymphocytopenia, Increased circulating IgE level, Recurrent bacte... ORPHA:217390
Agammaglobulinemia 8B, Autosomal Recessive
Anemia, Decreased circulating IgE, Pancytopenia, B lymphocytopenia, Increased proportion of effec... OMIM:619824
Immunodeficiency Due To Selective Anti-Polysaccharide Antibody Deficiency
Decreased specific antibody response to polysaccharide vaccine, Decreased specific anti-polysacch... ORPHA:70593
Histiocytosis, Familial Lipochrome
Increased alpha-globulin, Histiocytosis, Increased circulating antibody level OMIM:235900
Immunodeficiency 99 With Hypogammaglobulinemia And Autoimmune Cytopenias
Lymphadenopathy, Decreased proportion of class-switched memory B cells, Decreased circulating ant... OMIM:619846
Immunodeficiency 54
Hepatomegaly, Lymphadenopathy, Adrenocorticotropic hormone excess, Splenomegaly, Reduced natural ... OMIM:609981
Monosomy 22
Hypochromic microcytic anemia, Seborrheic dermatitis, Synophrys, Thickened skin, Hepatosplenomega... ORPHA:96123
Agammaglobulinemia 10, Autosomal Dominant
Agammaglobulinemia, Decreased circulating IgG level, Recurrent sinusitis, Transient neutropenia, ... OMIM:619707
Immunodeficiency By Defective Expression Of Mhc Class Ii
Recurrent Staphylococcus aureus infections, Panhypogammaglobulinemia, T lymphocytopenia, Decrease... ORPHA:572
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation
Autoimmune hemolytic anemia, Hepatomegaly, Lymphadenopathy, Crohn's disease, Arthritis, Decreased... OMIM:616100
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked
Anemia, Lymphadenopathy, Alopecia, Decreased FOXP3-expressing T cell count, Increased circulating... OMIM:304790
Hidrotic Ectodermal Dysplasia
Nail dystrophy, Small nail, Thickened skin, Generalized hypotrichosis, Sparse axillary hair, Spar... ORPHA:189
Immunodeficiency 14B, Autosomal Recessive
Monocytosis, B lymphocytopenia, Leukocytosis, Decreased circulating IgG level, Inflammation of th... OMIM:619281
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 4
Agammaglobulinemia, Decreased circulating antibody level, Abnormal B cell morphology OMIM:616911
Immunodeficiency 70
Decreased circulating total IgG, B lymphocytopenia, Decreased circulating antibody level, Furuncl... OMIM:618969
Immunodeficiency 44
Abnormal circulating IgG level, Severe viral infection, Post-vaccination measles, Lymphopenia, De... OMIM:616636
Lymphoproliferative Syndrome, X-Linked, 1
Aplastic anemia, Dysgammaglobulinemia, Hepatomegaly, Lymphadenopathy, Hemophagocytosis, Pancytope... OMIM:308240
Proteasome-Associated Autoinflammatory Syndrome 2
Lymphadenopathy, Elevated circulating C-reactive protein concentration, Increased circulating IgG... OMIM:618048
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1
T lymphocytopenia, Sinusitis, Bronchiectasis, Increased circulating IgM level, Pneumonia, Reduced... OMIM:242860
Odonto-Onycho Dysplasia-Alopecia Syndrome
Abnormal fingernail morphology, Sparse body hair, Sparse eyebrow, Sparse hair, Hypoplastic toenai... ORPHA:2722
Immunodeficiency, Common Variable, 13
Pancytopenia, B lymphocytopenia, Decreased circulating antibody level, Acute lymphoblastic leukem... OMIM:616873
Hemophagocytic Lymphohistiocytosis, Familial, 4
Hypertriglyceridemia, Jaundice, Anemia, Lymphadenopathy, Hemophagocytosis, Hepatomegaly, Skin ras... OMIM:603552
Neutrophil Immunodeficiency Syndrome
Leukocytosis, Abnormality of neutrophil physiology ORPHA:183707
Immunodeficiency 27A
Anemia, Lymphadenopathy, Thrombocytosis, Increased circulating IgG level, Salmonella osteomyeliti... OMIM:209950
Immunodeficiency 81
Autoimmune hemolytic anemia, Decreased proportion of class-switched memory B cells, Decreased pro... OMIM:619374
Agammaglobulinemia 6, Autosomal Recessive
Abnormal T cell morphology, Recurrent otitis media, B lymphocytopenia, Decreased circulating IgG ... OMIM:612692
Immunodeficiency With Hyper-Igm, Type 2
Impaired Ig class switch recombination, Complete or near-complete absence of specific antibody re... OMIM:605258
Pulmonary Nodular Lymphoid Hyperplasia
Plasmacytosis, Mediastinal lymphadenopathy, Follicular hyperplasia ORPHA:60026
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta
Chronic oral candidiasis, Increased circulating antibody level, Decreased proportion of CD3-posit... ORPHA:169160
Immunodeficiency, Common Variable, 12, With Autoimmunity
Autoimmune hemolytic anemia, Decreased circulating antibody level, Recurrent pneumonia, Thrombocy... OMIM:616576
Immunodeficiency 82 With Systemic Inflammation
Crohn's disease, Skin rash, T lymphocytopenia, Splenomegaly, Decreased circulating total IgA, Red... OMIM:619381
X-Linked Agammaglobulinemia
Chronic otitis media, Anemia, Hypocalcemia, Abnormality of the tonsils, Abnormality of the lympha... ORPHA:47
Epidermodysplasia Verruciformis, Susceptibility To, 5
Persistent human papillomavirus infection, Lymphopenia, Cryptococcal meningitis, T lymphocytopenia OMIM:618309
Perifolliculitis Capitis Abscedens Et Suffodiens, Familial
Perifolliculitis, Alopecia of scalp, Alopecia OMIM:260910
Activated Pi3K-Delta Syndrome
Recurrent otitis media, Hepatomegaly, Lymphadenopathy, Recurrent tonsillitis, B lymphocytopenia, ... ORPHA:397596
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction
Contracture of the proximal interphalangeal joint of the 4th finger, Decreased response to growth... OMIM:618223
Omenn Syndrome
Hepatomegaly, Anemia, Lymphadenopathy, Thyroiditis, Abnormal lymphocyte morphology, Erythroderma,... ORPHA:39041
Selective Igm Deficiency
Decreased proportion of CD3-positive T cells, Decreased proportion of transitional B cells, Recur... ORPHA:331235
Immunodeficiency 55
Ichthyosis, Lymphadenopathy, Eczematoid dermatitis, Lymphopenia, Recurrent skin infections, Absen... OMIM:617827
Macrophage Activation Syndrome
Hypertriglyceridemia, Hepatomegaly, Anemia, Lymphadenopathy, Hemophagocytosis, Abnormal natural k... ORPHA:158061
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis
Autoimmune hemolytic anemia, Plasmacytosis, Increased circulating antibody level, Lymphopenia OMIM:247800
Immunodeficiency 67
Liver abscess, Abnormal natural killer cell count, Increased circulating IgE level, Complete or n... OMIM:607676
Familial Cold Autoinflammatory Syndrome 2
Lymphadenopathy, Elevated circulating C-reactive protein concentration, Recurrent aphthous stomat... OMIM:611762
Combined Immunodeficiency With Facio-Oculo-Skeletal Anomalies
Decreased circulating total IgG, Chronic oral candidiasis, Decreased lymphocyte proliferation in ... ORPHA:221139
Transcobalamin Deficiency
Pancytopenia, Decreased circulating antibody level, Decreased circulating IgG level, Thrombocytop... ORPHA:859
Dissecting Cellulitis Of The Scalp
Cellulitis, Recurrent skin infections, Pruritus, Abnormal hair morphology ORPHA:345
Neutropenia, Chronic Familial
Periodontitis, Increased circulating antibody level, Neutropenia OMIM:162700
Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency
Crohn's disease, Optic neuritis, Splenomegaly, Psoriasiform dermatitis, Type I diabetes mellitus,... ORPHA:436159
Immunodeficiency 37
Recurrent infections, Decreased circulating antibody level, Decreased proportion of central memor... OMIM:616098
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Hypertriglyceridemia, Anemia, Lymphadenopathy, Hemophagocytosis, Decreased circulating antibody l... OMIM:613101
Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia
Hepatomegaly, Decreased circulating IgG level, Leukopenia, Splenomegaly, Recurrent skin infection... OMIM:620210
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome
Autoimmune hemolytic anemia, Recurrent otitis media, Lymphadenopathy, Splenomegaly, Lymphopenia, ... ORPHA:444463
Erythrokeratodermia Variabilis Et Progressiva 5
Hyperkeratosis, Palmoplantar hyperkeratosis, Onychogryposis, Abnormal hair morphology OMIM:617756
Immunodeficiency 75 With Lymphoproliferation
Lymphadenopathy, Decreased proportion of class-switched memory B cells, Hepatosplenomegaly, Bronc... OMIM:619126
Neutropenia, Severe Congenital, 2, Autosomal Dominant
B lymphocytopenia, Monocytosis, Neutropenia OMIM:613107
Dyskeratosis Congenita, Autosomal Recessive 8
Nail dystrophy, Pancytopenia, Pancolitis, B lymphocytopenia, Sparse scalp hair, Bone marrow hypoc... OMIM:620133
Immunodeficiency 69
Increased circulating ferritin concentration, Anemia, Hemophagocytosis, Pancytopenia, Skin rash, ... OMIM:618963
Hermansky-Pudlak Syndrome 2
Absent platelet dense granules, Chronic oral candidiasis, Recurrent otitis media, Hepatomegaly, P... OMIM:608233
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity
Autoimmune hemolytic anemia, Recurrent otitis media, Hepatomegaly, Lymphadenopathy, Ichthyosis, I... OMIM:618495
Immunodeficiency 11B With Atopic Dermatitis
Pneumonia, Decreased circulating total IgM, Increased circulating IgE level, Atopic dermatitis, D... OMIM:617638
Neutropenia, Nonimmune Chronic Idiopathic, Of Adults
Acute myeloid leukemia, Neutropenia OMIM:607847
Pyogenic Sterile Arthritis, Pyoderma Gangrenosum, And Acne
Acne, Elevated circulating C-reactive protein concentration, Sterile abscess, Pancytopenia, Arthr... OMIM:604416
Ichthyosis Hystrix Of Curth-Macklin
Nail dystrophy, Ichthyosis, Diffuse palmoplantar hyperkeratosis, Hyperkeratosis, Flexion contract... ORPHA:79503
Palmoplantar Keratoderma, Norrbotten Recessive Type
Palmoplantar keratoderma, Hyperkeratosis, Recurrent cutaneous fungal infections OMIM:244850
Immunodeficiency 84
Perianal abscess, B lymphocytopenia, Splenomegaly OMIM:619437
Insulin-Resistance Syndrome Type A
Delayed puberty, Hyperkeratosis, Generalized hirsutism, Type II diabetes mellitus ORPHA:2297
Immunodeficiency With Hyper-Igm, Type 5
Lymphadenopathy, Impaired Ig class switch recombination, Decreased circulating IgG level, Increas... OMIM:608106
Reticular Dysgenesis
Chronic otitis media, Anemia, Skin rash, Decreased circulating antibody level, Leukopenia, Aplasi... ORPHA:33355
Anonychia With Flexural Pigmentation
Alopecia of scalp, Abnormal hair morphology, Hyperkeratosis, Anonychia, Follicular hyperkeratosis ORPHA:69125
Immunodeficiency 60 And Autoimmunity
Decreased basophil count, Decreased circulating total IgM, Decreased circulating IgE, Pancytopeni... OMIM:618394
Autoinflammatory Disease, Systemic, X-Linked
Panniculitis, B lymphocytopenia, Complete or near-complete absence of specific antibody response ... OMIM:301081
Immunodeficiency 68
Abnormal natural killer cell count, B lymphocytopenia, Lymphadenitis, T lymphocytopenia, Septic a... OMIM:612260
Immunodeficiency, Common Variable, 8, With Autoimmunity
Chronic neutropenia, Decreased specific antibody response to vaccination, Recurrent sinusitis, Sp... OMIM:614700
Hypotrichosis Simplex Of The Scalp
Slow-growing scalp hair, Alopecia of scalp, Parakeratosis, Increased circulating IgE level, Hyper... ORPHA:90368
Schnitzler Syndrome
Hepatomegaly, Anemia, Lymphadenopathy, Arthritis, Skin rash, Leukocytosis, Increased circulating ... ORPHA:37748
Immunodeficiency With Hyper-Igm, Type 1
Dysgammaglobulinemia, Decreased circulating IgE, Sclerosing cholangitis, Impaired Ig class switch... OMIM:308230
Hypotrichosis Simplex
Sparse scalp hair, Sparse eyelashes, Sparse body hair, Sparse eyebrow, Sparse hair, Alopecia ORPHA:55654
Immunodeficiency 36 With Lymphoproliferation
Chronic lymphatic leukemia, B lymphocytopenia, Increased proportion of transitional B cells, Decr... OMIM:616005
L-Ferritin Deficiency
Alopecia, Decreased circulating ferritin concentration OMIM:615604
Neutropenia, Severe Congenital, 1, Autosomal Dominant
Anemia, Increased circulating antibody level, Thrombocytosis, Congenital agranulocytosis, Acute m... OMIM:202700
Autoimmune Lymphoproliferative Syndrome, Type Iia
Splenomegaly, Decreased lymphocyte apoptosis, Increased circulating IgG level, Nephritis, Autoimm... OMIM:603909
Proteasome-Associated Autoinflammatory Syndrome 5
Hypertriglyceridemia, Skin rash, Hepatomegaly, Splenomegaly OMIM:619175
Immunodeficiency 9
Amelogenesis imperfecta, Recurrent aphthous stomatitis, Abnormal natural killer cell count, Stoma... OMIM:612782
Immunodeficiency, Common Variable, 7
Decreased circulating total IgG, Chronic partially decreased circulating IgG1, Decreased specific... OMIM:614699
Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2
Perianal abscess, Increased circulating interleukin 6 concentration, Thrombocytosis, Iron deficie... OMIM:301074
Immunodeficiency 35
Increased circulating IgE level, Recurrent viral infections, Recurrent mycobacterial infections, ... OMIM:611521
Ras-Associated Autoimmune Leukoproliferative Disorder
Hepatomegaly, Increased circulating antibody level, Pancytopenia, Lymphocytosis, Splenomegaly, De... OMIM:614470
Griscelli Syndrome, Type 2
Reduced delayed hypersensitivity, Hepatosplenomegaly, Hemophagocytosis, Recurrent bacterial infec... OMIM:607624
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome
Chronic oral candidiasis, Lymphadenopathy, Recurrent aphthous stomatitis, B lymphocytopenia, Recu... OMIM:150550
Immunodeficiency, Common Variable, 14
Decreased proportion of class-switched memory B cells, Decreased specific antibody response to va... OMIM:617765
Netherton Syndrome
Parakeratosis, Brittle hair, Increased circulating IgE level, Sparse scalp hair, Chronic rhinitis... OMIM:256500
Hypotrichosis 4
Uncombable hair, Sparse scalp hair, Sparse eyelashes, Sparse body hair, Sparse eyebrow, Alopecia OMIM:146550
Alopecia Areata 2
Alopecia totalis, Alopecia universalis, Alopecia of scalp, Patchy alopecia OMIM:610753
Alopecia Areata 1
Patchy alopecia, Nail pits, Trachyonychia, Alopecia totalis, Alopecia universalis OMIM:104000
Immunodeficiency 98 With Autoinflammation, X-Linked
Autoimmune hemolytic anemia, Chronic oral candidiasis, Recurrent otitis media, Hepatomegaly, Lymp... OMIM:301078
Tularemia
Cervical lymphadenopathy, Pneumonia, Mediastinal lymphadenopathy, Lymphadenopathy, Anemia, Increa... ORPHA:3392
Alopecia Universalis Congenita
Absent pubic hair, Absent eyelashes, Absent eyebrow, Absent axillary hair, Alopecia universalis OMIM:203655
Mirror Polydactyly-Vertebral Segmentation-Limbs Defects Syndrome
Aplasia of the thymus ORPHA:3004
Lymphoproliferative Syndrome 1
Autoimmune hemolytic anemia, Hepatomegaly, Anemia, Lymphadenopathy, Hemophagocytosis, Pancytopeni... OMIM:613011
Epidermolysis Bullosa Simplex 6, Generalized Intermediate, With Or Without Cardiomyopathy
Alopecia of scalp, Onychogryposis of toenails, Diffuse palmoplantar hyperkeratosis, Dystrophic to... OMIM:617294
Neutropenia, Lethal Congenital, With Eosinophilia
Eosinophilia, Neutropenia OMIM:257100
Familial Reactive Perforating Collagenosis
Perifolliculitis, Inflammatory abnormality of the skin, Pruritus, Hyperkeratotic papule, Crusting... ORPHA:79147
Immunodeficiency 10
Autoimmune hemolytic anemia, Increased circulating IgG3 level, Amelogenesis imperfecta, Recurrent... OMIM:612783
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Nail dystrophy, Abnormality of the endocrine system, Splenomegaly, Abnormal blood ion concentrati... ORPHA:37042
Immunodeficiency 96
Defective T cell proliferation, Recurrent otitis media, Recurrent lower respiratory tract infecti... OMIM:619774
Neutropenia, Severe Congenital, X-Linked
Monocytopenia, Decreased CD4:CD8 ratio, Recurrent bacterial infections, Neutropenia OMIM:300299
Combined Immunodeficiency Due To Partial Rag1 Deficiency
Autoimmune hemolytic anemia, Sepsis, Neutropenia in presence of anti-neutropil antibodies, B lymp... ORPHA:231154
Ichthyosis, Congenital, Autosomal Recessive 13
Hypergranulosis, Hyperkeratosis, Ichthyosis, Palmoplantar hyperkeratosis OMIM:617574
Poikiloderma With Neutropenia
Nail dystrophy, Recurrent otitis media, Skin rash, Hyperkeratosis, Elevated circulating creatine ... OMIM:604173
Palmoplantar Keratoderma, Nonepidermolytic, Focal 1
Palmoplantar keratoderma, Congenital bullous ichthyosiform erythroderma, Perioral hyperkeratosis,... OMIM:613000
Immunoglobulin A Deficiency 2
Abnormal lymphocyte morphology, Decreased circulating IgA level OMIM:609529
Proteasome-Associated Autoinflammatory Syndrome 3
Hypertriglyceridemia, Hepatomegaly, Anemia, Lymphadenopathy, Increased circulating antibody level... OMIM:617591
Immunodeficiency 61
Recurrent otitis media, Recurrent bacterial infections, Decreased circulating IgG4 level, Recurre... OMIM:300310
Mu-Heavy Chain Disease
Hepatomegaly, Anemia, Increased circulating antibody level, Lymphadenopathy, Splenomegaly, Abnorm... ORPHA:100024
Adult Idiopathic Neutropenia
Recurrent infections, Increased circulating IgM level, Helicobacter pylori infection, Lymphopenia... ORPHA:2688
Granulomatous disease with defect in neutrophil chemotaxis
Recurrent staphylococcal infections, Impaired neutrophil killing of staphylococci OMIM:233670
Immunodeficiency 92
Hepatomegaly, Abnormal B cell proliferation, Cholangitis, Sclerosing cholangitis, Decreased propo... OMIM:619652
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Hepatomegaly, Anemia, Increased circulating antibody level, Thrombocytopenia, Splenomegaly, Leuko... OMIM:615285
Immunodeficiency Due To Defect In Mapbp-Interacting Protein
Decreased circulating total IgM, Neutropenia OMIM:610798
Hypotrichosis 11
Aplasia/Hypoplasia of the eyebrow, Sparse or absent eyelashes, Sparse hair, Absent axillary hair,... OMIM:615059
Sting-Associated Vasculopathy, Infantile-Onset
Nail dystrophy, Anemia, Elevated circulating C-reactive protein concentration, Increased circulat... OMIM:615934
Ichthyosis, Lamellar, Autosomal Dominant
Hyperkeratosis, Congenital nonbullous ichthyosiform erythroderma, Pruritus OMIM:146750
Immunodeficiency 42
Chronic oral candidiasis, Hepatomegaly, Recurrent aphthous stomatitis, Hypoplasia of the thymus, ... OMIM:616622
Lymphangiectasia, Intestinal
Intestinal lymphangiectasia, Abnormal hair morphology, Neonatal hypoproteinemia, Decreased circul... OMIM:152800
Autosomal Recessive Generalized Epidermolysis Bullosa Simplex
Ridged nail, Atrophic scars, Dystrophic toenail, Hyperkeratosis, Absent toenail, Abnormal fingern... ORPHA:89838
Autoimmune Lymphoproliferative Syndrome
Autoimmune hemolytic anemia, Reduced delayed hypersensitivity, Hepatomegaly, Iron deficiency anem... OMIM:601859
Immunodeficiency 93 And Hypertrophic Cardiomyopathy
Neutropenia, Decreased proportion of class-switched memory B cells, B lymphocytopenia, Crohn's di... OMIM:619705
Bone Marrow Failure Syndrome 4
Anemia, Decreased circulating antibody level, Eczematoid dermatitis, Bone marrow hypocellularity,... OMIM:618116
Porokeratosis Of Mibelli
Hyperkeratosis, Porokeratosis, Pruritus ORPHA:735
Psoriasis 14, Pustular
Nail dystrophy, Parakeratosis, Cholangitis, Elevated circulating C-reactive protein concentration... OMIM:614204
Immunodeficiency, Common Variable, 11
Decreased proportion of class-switched memory B cells, Increased circulating IgE level, Abnormal ... OMIM:615767
Ichthyosis, Hystrix-Like, With Deafness
Ichthyosis, Palmoplantar keratoderma, Scarring alopecia of scalp, Absent eyelashes, Hyperkeratosi... OMIM:602540
Poikiloderma, Hereditary Fibrosing, With Tendon Contractures, Myopathy, And Pulmonary Fibrosis
Delayed puberty, Nail dysplasia, Hepatomegaly, Elevated circulating creatine kinase concentration... OMIM:615704
Autoimmune Disease, Multisystem, Infantile-Onset, 2
Increased CD4:CD8 ratio, Impaired lymphocyte transformation with phytohemagglutinin, Decreased sp... OMIM:617006
Autoinflammation, Panniculitis, And Dermatosis Syndrome
Panniculitis, Lymphadenopathy, Elevated circulating C-reactive protein concentration, Increased p... OMIM:617099
Wiskott-Aldrich Syndrome
Impaired lymphocyte transformation with phytohemagglutinin, Recurrent sinusitis, Lymphopenia, Rec... OMIM:301000
Parana Hard Skin Syndrome
Thickened skin, Hyperkeratosis, Generalized hirsutism ORPHA:2812
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome
Abnormal circulating interferon-gamma concentration, Jaundice, Anemia, Hepatomegaly, Abnormal nat... ORPHA:79124
Immunodeficiency 7
Autoimmune hemolytic anemia, Chronic oral candidiasis, Recurrent otitis media, Hepatomegaly, Lymp... OMIM:615387
Idiopathic Trachyonychia
Nail dystrophy, Ichthyosis, Thin nail, Ridged nail, Toenail dysplasia, Abnormality of the periung... ORPHA:79153
Autoinflammation With Arthritis And Dyskeratosis
Autoimmune hemolytic anemia, Hepatomegaly, Elevated circulating C-reactive protein concentration,... OMIM:617388
Bare Lymphocyte Syndrome, Type Ii
Recurrent lower respiratory tract infections, Panhypogammaglobulinemia, Recurrent urinary tract i... OMIM:209920
Alopecia-Epilepsy-Pyorrhea-Intellectual Disability Syndrome
Periodontitis, Abnormal eyelash morphology, Sparse scalp hair, Sparse body hair, Alopecia univers... ORPHA:1008
Agammaglobulinemia, X-Linked
Decreased circulating IgE, T lymphocytopenia, Recurrent sinusitis, Lymph node hypoplasia, Neutrop... OMIM:300755
Leishmaniasis
Hepatomegaly, Anemia, Lymphadenopathy, Increased circulating antibody level, Pancytopenia, Abnorm... ORPHA:507
Verrucous Hemangioma
Hyperkeratotic papule, Inflammatory abnormality of the skin ORPHA:464318
Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis
Parakeratosis, Jaundice, Hepatomegaly, Ichthyosis, Thick hair, Sclerosing cholangitis, Intrahepat... OMIM:607626
Ectodermal Dysplasia 6, Hair/Nail Type
Thin toenail, Dystrophic toenail, Sparse hair, Alopecia OMIM:614928
Isolated Agammaglobulinemia
Pneumonia, Anemia, Inflammatory abnormality of the eye, Abnormality of the tonsils, Abnormality o... ORPHA:229717
Kimura Disease
Abnormal salivary gland morphology, Lymphadenopathy, Increased circulating IgE level, Eosinophili... ORPHA:482
Immunodeficiency, Common Variable, 6
Recurrent respiratory infections, Complete or near-complete absence of specific antibody response... OMIM:613496
Indolent Systemic Mastocytosis
Hepatomegaly, Increased proportion of CD25+ mast cells, Lymphadenopathy, Skin rash, Mastocytosis,... ORPHA:98848
Epidermolysis Bullosa Simplex 5D, Generalized Intermediate, Autosomal Recessive
Nail dystrophy, Pruritus, Plantar hyperkeratosis, Alopecia OMIM:616487
Neonatal Lupus Erythematosus
Aplastic anemia, Parakeratosis, Hepatomegaly, Anemia, Maculopapular exanthema, Pancytopenia, Mala... ORPHA:398124
Pili Torti-Onychodysplasia Syndrome
Nail dystrophy, Palmoplantar keratoderma, Brittle hair, Absent eyelashes, Generalized keratosis f... ORPHA:2890
Immunodeficiency 32B
Hepatomegaly, Anemia, Monocytopenia, Abnormal circulating IgG level, Sinusitis, Bronchiectasis, N... OMIM:226990
Cinca Syndrome
Anemia, Lymphadenopathy, Elevated circulating C-reactive protein concentration, Arthritis, Skin r... OMIM:607115
Griscelli Syndrome
Abnormal circulating lipid concentration, Premature graying of hair, Jaundice, Hepatomegaly, Lymp... ORPHA:381
Rothmund-Thomson Syndrome, Type 1
Nail dystrophy, Recurrent otitis media, Thin nail, Absent eyelashes, Hyperkeratosis, Absent eyebr... OMIM:618625
Epidermolysis Bullosa Simplex With Anodontia/Hypodontia
Anemia, Toenail dysplasia, Abnormal dental enamel morphology, Sparse scalp hair, Abnormal fingern... ORPHA:2325
Immunodeficiency 38 With Basal Ganglia Calcification
Lymphadenopathy, Axillary lymphadenopathy, Inguinal lymphadenopathy OMIM:616126
Burkitt Lymphoma
Abnormal lymph node morphology, Hyperuricemia, Abnormality of the ovary, Decreased proportion of ... ORPHA:543
Aicardi-Goutieres Syndrome 6
Hepatomegaly, Chilblains, Thrombocytopenia, Splenomegaly, Increased circulating Interferon-alpha ... OMIM:615010
Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia
Macrocytic anemia, Pancytopenia, Hypersegmentation of neutrophil nuclei, Hyperhomocystinemia, Meg... OMIM:617780
Erythrokeratodermia Variabilis
Abnormal hair morphology, Abnormality of the nail, Skin rash, Hyperkeratosis, Abnormal testis mor... ORPHA:317
Lymphoproliferative Syndrome 2
Aplastic anemia, EBV encephalitis, Hepatomegaly, Lymphadenopathy, Hemophagocytosis, Pancytopenia,... OMIM:615122
Proteus Syndrome
Lipoma, Hyperkeratosis, Lymphangioma, Splenomegaly, Cerebriform connective tissue nevus, Multiple... OMIM:176920
Dystrophic Epidermolysis Bullosa Pruriginosa
Scarring, Nail dystrophy, Increased circulating IgE level, Atrophic scars, Hyperkeratosis, Abnorm... ORPHA:89843
Reticuloendotheliosis, X-Linked
Anemia, Jaundice, Hepatosplenomegaly, Lymphadenopathy OMIM:312500
Ichthyosis, Congenital, Autosomal Recessive 1
Nail dysplasia, Nail dystrophy, Parakeratosis, Ichthyosis, Congenital ichthyosiform erythroderma,... OMIM:242300
Boutonneuse Fever
Lymphadenopathy, Increased circulating IgG level, Skin rash, Increased circulating IgM level, Thr... ORPHA:83313
Bleeding Disorder, Platelet-Type, 21
Impaired platelet aggregation, Eczematoid dermatitis, Impaired ADP-induced platelet aggregation, ... OMIM:617443
Immunodeficiency 114, Folate-Responsive
Hypertriglyceridemia, Hepatomegaly, Megaloblastic anemia, Increased circulating IgE level, Atopic... OMIM:620603
Mantle Cell Lymphoma
Splenomegaly, Lymphadenopathy ORPHA:52416
Autoimmune Lymphoproliferative Syndrome
Increased circulating antibody level, Lymphocytosis, Reticulocytosis, Bone marrow hypocellularity... ORPHA:3261
Familial Hemophagocytic Lymphohistiocytosis
Hypertriglyceridemia, Cholestatic liver disease, Skin rash, Splenomegaly, Abnormality of tumor ne... ORPHA:540
Palmoplantar Keratoderma, Nagashima Type
Orthokeratotic hyperkeratosis, Hypergranulosis, Palmoplantar hyperkeratosis OMIM:615598
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2
B lymphocytopenia, Decreased circulating antibody level, Decreased circulating IgG level, Pneumon... OMIM:614069
Bazex Syndrome
Liposarcoma, Nail dystrophy, Yellow nails, Anemia, Parakeratosis, Acanthosis nigricans, Hyperkera... ORPHA:166113
Fragile Site, Distamycin A Type, Rare, Fra(16)(Q22.1)
Abnormal lymph node morphology OMIM:136580
Squamous Cell Carcinoma Of The Esophagus
Lymphadenopathy ORPHA:99977
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis
Hepatomegaly, Elevated circulating C-reactive protein concentration, Stomatitis, Skin rash, Hyper... OMIM:612852
Immunodeficiency With Hyper-Igm, Type 4
Autoimmune hemolytic anemia, Impaired Ig class switch recombination, Bronchiectasis, Absence of l... OMIM:608184
Alopecia-Intellectual Disability Syndrome 1
Alopecia universalis, Alopecia OMIM:203650
Autoimmune Polyendocrinopathy Type 4
Aplasia/Hypoplasia of the spleen, Central diabetes insipidus, Non-caseating epithelioid cell gran... ORPHA:227990
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome
Nail dystrophy, Decreased circulating cortisol level, Recurrent sinusitis, Psoriasiform dermatiti... ORPHA:293978
Ataxia-Pancytopenia Syndrome
Pancytopenia, Abnormal macrophage morphology, Decreased circulating antibody level, Abnormal plat... ORPHA:2585
Aquagenic Palmoplantar Keratoderma
Palmoplantar keratoderma, Orthokeratotic hyperkeratosis, Atopic dermatitis, Palmar pruritus ORPHA:498359
Cyclic Neutropenia
Perianal abscess, Lymphadenopathy, Recurrent tonsillitis, Decreased eosinophil count, Periodontit... ORPHA:2686
Pediatric Systemic Lupus Erythematosus
Decreased circulating complement C3 concentration, Lymphadenopathy, Malar rash, Arthritis, Skin r... ORPHA:93552
Palmoplantar Keratoderma And Congenital Alopecia 2
Nail dysplasia, Nail dystrophy, Hyperkeratosis, Sclerodactyly, Camptodactyly of finger, Palmoplan... OMIM:212360
Immunodeficiency 46
Chronic oral candidiasis, Anemia, Decreased circulating antibody level, Intermittent thrombocytop... OMIM:616740
Myeloproliferative/Lymphoproliferative Neoplasms, Familial (Multiple Types), Susceptibility To
Acute myeloid leukemia, Refractory anemia, Eczematoid dermatitis, Bone marrow hypocellularity, Le... OMIM:616871
Ulerythema Ophryogenesis
Contact dermatitis, Sparse lateral eyebrow, Acne, Hyperkeratotic papule, Follicular hyperkeratosis ORPHA:3406
Quinquaud Folliculitis Decalvans
Scarring, Abnormal hair morphology, Scarring alopecia of scalp, Patchy alopecia, Pustule, Recurre... ORPHA:346
Parc Syndrome
Alopecia, Absent eyelashes, Absent eyebrow OMIM:600331
Severe Combined Immunodeficiency Due To Dclre1C Deficiency
Chronic oral candidiasis, Decreased proportion of CD3-positive T cells, Decreased circulating IgG... ORPHA:275
Panniculitis-Induced Localized Lipodystrophy
Lipoatrophy, Abnormal immunoglobulin level, Reduced subcutaneous adipose tissue, Absence of subcu... ORPHA:90159
Centrifugal Lipodystrophy
Lipoatrophy, Lymphadenitis, Lack of facial subcutaneous fat, Reduced subcutaneous adipose tissue,... ORPHA:90156
Mendelian Susceptibility To Mycobacterial Diseases Due To Partial Irf8 Deficiency
Lymphadenopathy ORPHA:319600
Acne Inversa, Familial, 2, With Or Without Dowling-Degos Disease
Acne inversa, Perifolliculitis, Chronic furunculosis, Recurrent cutaneous abscess formation, Foll... OMIM:613736
Autoimmune Polyendocrinopathy Type 3
Macrocytic anemia, Biliary cirrhosis, Leukopenia, Type I diabetes mellitus, Aplasia/Hypoplasia of... ORPHA:227982
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome
Nail dystrophy, Small nail, Hypoplastic nipples, Thyroid hypoplasia, Absent nipple, Congenital hy... OMIM:620186
Hemophagocytic Syndrome Associated With An Infection
Hypertriglyceridemia, Increased circulating ferritin concentration, Hepatomegaly, Anemia, Hemopha... ORPHA:158048
Trichomegaly-Retina Pigmentary Degeneration-Dwarfism Syndrome
Decreased response to growth hormone stimulation test, Long eyelashes, Hypothyroidism, Neonatal h... ORPHA:3363
Mixed Connective Tissue Disease
Myocarditis, Hepatomegaly, Mediastinal lymphadenopathy, Lymphadenopathy, Keratoconjunctivitis sic... ORPHA:809
Aplasia Cutis Congenita-Intestinal Lymphangiectasia Syndrome
Decreased circulating antibody level, Hypoproteinemia, Abnormal hair quantity, Lymphopenia ORPHA:1116
Alopecia-Intellectual Disability-Hypergonadotropic Hypogonadism Syndrome
Alopecia totalis, Hypergonadotropic hypogonadism ORPHA:1014
Gastrointestinal Defects And Immunodeficiency Syndrome 1
Autoimmune hemolytic anemia, Impaired lymphocyte transformation with phytohemagglutinin, Decrease... OMIM:243150
Granulomatous Disease, Chronic, Autosomal Recessive, 5
Perianal abscess, Lymphadenopathy, Recurrent tonsillitis, Crohn's disease, Acute pancreatitis, Ly... OMIM:618935
Keratoderma Hereditarium Mutilans With Ichthyosis
Nail dystrophy, Parakeratosis, Generalized ichthyosis, Alopecia, Hyperkeratosis, Congenital nonbu... ORPHA:79395
Roifman Syndrome
Recurrent otitis media, Lymphadenopathy, Decreased circulating antibody level, Eczematoid dermati... ORPHA:353298
Dermatoleukodystrophy
Thickened skin, Hyperkeratosis ORPHA:1659
Ichthyosis Hystrix, Lambert Type
Orthokeratotic hyperkeratosis, Hyperkeratosis OMIM:146600
Hereditary Palmoplantar Keratoderma, Gamborg-Nielsen Type
Hyperkeratosis with erythema, Diffuse palmoplantar hyperkeratosis ORPHA:86923
Palmoplantar Keratoderma, Punctate Type Iii
Hyperkeratosis, Acrokeratosis OMIM:101850
Whim Syndrome 1
Bronchiectasis, Decreased circulating IgG level, Decreased circulating antibody level, Neutropenia OMIM:193670
Autoinflammatory-Pancytopenia Syndrome
Cholestatic liver disease, Hemophagocytosis, Intestinal inflammation, Pancytopenia, Chilblains, H... OMIM:619858
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Recessive
Cirrhosis, Ichthyosis, Palmoplantar keratoderma, Increased serum bile acid concentration, Decreas... OMIM:242150
Immunodeficiency 22
Chronic oral candidiasis, Anemia, Decreased circulating IgE, Panniculitis, Decreased circulating ... OMIM:615758
Rosaï-Dorfman Disease
Dysgammaglobulinemia, Anemia, Lymphadenopathy ORPHA:158014
Specific Granule Deficiency 1
Abnormal neutrophil count, Hyposegmentation of neutrophil nuclei, Impaired neutrophil bactericida... OMIM:245480
Griscelli Syndrome Type 2
Premature graying of hair, Jaundice, Hepatomegaly, Hemophagocytosis, Lymphadenopathy, Pancytopeni... ORPHA:79477
Agammaglobulinemia 9, Autosomal Recessive
Seborrheic dermatitis, Eczematoid dermatitis, Thrombocytopenia, Agammaglobulinemia, Absent circul... OMIM:619693
Olmsted Syndrome 2
Cheilitis, Parakeratosis, Perioral hyperkeratosis, Flexion contracture of digit, Hyperkeratosis, ... OMIM:619208
H Syndrome
Delayed puberty, Hypertriglyceridemia, Ichthyosis, Lymphadenopathy, Camptodactyly, Chronic rhinit... ORPHA:168569
Epidermolysis Bullosa Simplex With Mottled Pigmentation
Nail dysplasia, Nail dystrophy, Palmar hyperkeratosis, Hyperkeratotic papule, Plantar hyperkerato... ORPHA:79397
Porphyria Cutanea Tarda
Cirrhosis, Hepatocellular carcinoma, Onycholysis, Scleroderma, Facial hypertrichosis, Alopecia OMIM:176100
Autoinflammation, Antibody Deficiency, And Immune Dysregulation
Decreased proportion of class-switched memory B cells, Interstitial pneumonitis, Enterocolitis, C... OMIM:614878
Epidermolysis Bullosa Dystrophica, Pretibial
Hyperkeratosis, Nail dystrophy, Pruritus, Atrophic scars OMIM:131850
Dowling-Degos Disease 2
Hyperkeratotic papule, Follicular hyperkeratosis OMIM:615327
Oliver-Mcfarlane Syndrome
Delayed puberty, Decreased response to growth hormone stimulation test, Long eyebrows, Long eyela... OMIM:275400
Epidermolytic Hyperkeratosis 2A, Autosomal Dominant
Generalized hyperkeratosis, Palmoplantar keratoderma, Hyperkeratosis, Cobblestone-like hyperkerat... OMIM:620150
Ichthyosis, Congenital, Autosomal Recessive 10
Palmoplantar keratoderma, Generalized ichthyosis, Hyperkeratosis, Orthokeratotic hyperkeratosis, ... OMIM:615024
Aicardi-Goutieres Syndrome 3
Thrombocytopenia, Hepatosplenomegaly, Chilblains OMIM:610329
Ataxia-Telangiectasia
Delayed puberty, Abnormal hair morphology, Decreased circulating IgA level, Hypoplasia of the thy... OMIM:208900
Primary Intestinal Lymphangiectasia
Peritoneal effusion, Intestinal lymphangiectasia, Anemia, Decreased proportion of CD3-positive T ... ORPHA:90362
Palmoplantar Keratoderma-Deafness Syndrome
Palmoplantar keratoderma, Hyperkeratosis ORPHA:2202
Acute Erythroid Leukemia
Anemia, Erythroid hypoplasia, Pancytopenia, Bone marrow hypocellularity, Leukopenia, Monoclonal i... ORPHA:318
Immunodeficiency 40
Chronic oral candidiasis, Recurrent otitis media, Severe varicella zoster infection, Eosinophilic... OMIM:616433
Papa Syndrome
Increased circulating antibody level, Lymphadenopathy, Myositis, Arthritis, Crohn's disease, Pust... ORPHA:69126
C1Q Deficiency 2
Recurrent otitis media, Anemia, Elevated circulating C-reactive protein concentration, Malar rash... OMIM:620321
X-Linked Severe Congenital Neutropenia
Monocytopenia, Recurrent bacterial infections, Neutropenia ORPHA:86788
Leukocyte Adhesion Deficiency, Type Iii
Hepatomegaly, Anemia, Abnormal lymph node morphology, Leukocytosis, Hepatosplenomegaly, Splenomeg... OMIM:612840
Microcephalic Primordial Dwarfism, Toriello Type
Enamel hypoplasia, Decreased circulating total IgM, Decreased circulating IgG level, Neutropenia ORPHA:2643
Clouston Syndrome
Nail dysplasia, Nail dystrophy, Absent pubic hair, Brittle hair, Slow-growing hair, Small nail, P... OMIM:129500
Insulin-Resistance Syndrome Type B
Abnormal circulating lipid concentration, Hypotriglyceridemia, Skin rash, Biliary cirrhosis, Leuk... ORPHA:2298
Bathing Suit Ichthyosis
Nail dystrophy, Parakeratosis, Ichthyosis, Thickened skin, Congenital nonbullous ichthyosiform er... ORPHA:100976
Fibrodysplasia Ossificans Progressiva
Anemia, Alopecia ORPHA:337
Immunodeficiency 49
Impaired lymphocyte transformation with phytohemagglutinin, Hirsutism, T lymphocytopenia, Umbilic... OMIM:617237
Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige
Ichthyosis, Palmoplantar keratoderma, Increased circulating IgE level, Acantholysis, Erythroderma... OMIM:615508
Immunodeficiency 94 With Autoinflammation And Dysmorphic Facies
Lymphadenopathy, Elevated circulating C-reactive protein concentration, Decreased circulating ant... OMIM:619750
Majeed Syndrome
Delayed puberty, Skin rash, Anemia of inadequate production, Hepatosplenomegaly, Flexion contract... OMIM:609628
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Intermediate Form
Nail dystrophy, Hyperkeratosis, Plantar hyperkeratosis, Palmar hyperkeratosis, Pruritus ORPHA:79399
Moynahan Syndrome
Alopecia, Hyperkeratosis, Hypogonadism, Sparse hair ORPHA:2574
Holocarboxylase Synthetase Deficiency
Perioral eczema, Keratoconjunctivitis, Eczematoid dermatitis, Hyperammonemia, Thrombocytopenia, A... ORPHA:79242
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency
Hepatomegaly, Lymphadenopathy, Decreased proportion of class-switched memory B cells, Thyroiditis... OMIM:619375
Hyper-Ige Syndrome 4B, Autosomal Recessive, With Recurrent Infections
Recurrent otitis media, Increased circulating IgE level, Eczematoid dermatitis, Keratitis, Bronch... OMIM:618523
Epidermolysis Bullosa Simplex 1C, Localized
Hyperkeratosis OMIM:131800
Ataxia-Telangiectasia
Delayed puberty, Premature graying of hair, Hypopigmentation of hair, Decreased circulating antib... ORPHA:100
Immunodeficiency, Common Variable, 10
Decreased response to growth hormone stimulation test, Decreased circulating total IgM, Recurrent... OMIM:615577
Acquired Ichthyosis
Ichthyosis, Hyperkeratosis, Palmoplantar keratoderma, Recurrent skin infections, Pruritus ORPHA:454
Angioma Serpiginosum, X-Linked
Hyperkeratosis, Nail dystrophy, Fine hair, Sparse hair OMIM:300652
Ichthyosis With Erythrokeratoderma
Leukonychia, Parakeratosis, Palmoplantar keratoderma, Diffuse palmoplantar hyperkeratosis, Congen... OMIM:620507
Thumb Deformity-Alopecia-Pigmentation Anomaly Syndrome
Palmoplantar keratoderma, Onychogryposis of fingernail, Camptodactyly of finger, Ridged fingernai... ORPHA:2251
Cronkhite-Canada Syndrome
Hypoplastic toenails, Dystrophic fingernails, Hepatomegaly, Anemia, Dystrophic toenail, Patchy al... ORPHA:2930
Immune Dysregulation, Autoimmunity, And Autoinflammation
Decreased circulating complement C3 concentration, Cervical lymphadenopathy, Increased circulatin... OMIM:620514
Good Syndrome
Mediastinal lymphadenopathy, Anemia, Abnormal leukocyte morphology, Decreased circulating antibod... ORPHA:169105
Peeling Skin Syndrome 1
Nail dystrophy, Brittle hair, Increased circulating IgE level, Onycholysis, Erythroderma, Eosinop... OMIM:270300
Dyskeratosis Congenita, Autosomal Dominant 1
Aplastic anemia, Premature graying of hair, Nail dystrophy, Cirrhosis, Anemia, Ridged nail, Incre... OMIM:127550
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia
Nail dystrophy, Female hypogonadism, Type I diabetes mellitus, Adrenal insufficiency, Chronic ora... OMIM:240300
Alopecia, Familial Focal
Patchy alopecia OMIM:104110
Ichthyosis, Congenital, Autosomal Recessive 11
Curly eyelashes, Brittle hair, Abnormality of the nail, Hyperkeratosis, Curly hair, Sparse eyelas... OMIM:602400
Alopecia-Intellectual Disability Syndrome 2
Alopecia universalis OMIM:610422
Alopecia-Intellectual Disability Syndrome 3
Alopecia universalis OMIM:613930
Alopecia, Androgenetic, 1
Alopecia OMIM:109200
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 6
Premature graying of hair, Nail dystrophy, Pancytopenia, Decreased circulating antibody level, Bo... OMIM:619767
Kikuchi-Fujimoto Disease
Myocarditis, Hepatomegaly, Abnormal lymph node morphology, Lymphadenopathy, Anemia, Elevated circ... ORPHA:50918
Adult-Onset Still Disease
Abnormal circulating lipid concentration, Myocarditis, Increased circulating ferritin concentrati... ORPHA:829
Thumb Deformity And Alopecia
Alopecia OMIM:188150
Congenital Disorder Of Glycosylation, Type Iil
Decreased specific anti-polysaccharide antibody level, Cirrhosis, Hepatomegaly, Pancytopenia, Hyp... OMIM:614576
Olmsted Syndrome, X-Linked
Parakeratosis, Palmoplantar keratoderma, Palmoplantar hyperkeratosis, Hyperkeratosis, Blepharitis... OMIM:300918
Hyper-Ige Syndrome 6, Autosomal Dominant, With Recurrent Infections
Increased circulating IgE level, Atopic dermatitis, Eosinophilic infiltration of the esophagus, R... OMIM:620532
Keratoderma Hereditarium Mutilans
Ichthyosis, Abnormality of the nail, Hyperkeratosis, Abnormal toenail morphology, Honeycomb palmo... ORPHA:494
Mal De Meleda
Ichthyosis, Superficial dermal perivascular inflammatory infiltrate, Nonepidermolytic palmoplanta... ORPHA:87503
Keratosis Follicularis Spinulosa Decalvans, Autosomal Dominant
Nail dysplasia, Nail dystrophy, Scarring alopecia of scalp, Folliculitis, Sparse eyelashes, Ename... OMIM:612843
Lipoid Proteinosis Of Urbach And Wiethe
Thickened skin, Scarring, Hyperkeratosis, Patchy alopecia OMIM:247100
Congenital Panfollicular Nevus
Hyperkeratosis ORPHA:139414
Autosomal Agammaglobulinemia
Chronic otitis media, Arthritis, Skin rash, Sinusitis, Recurrent skin infections, Conjunctivitis,... ORPHA:33110
Cortisone Reductase Deficiency 1
Precocious puberty, Hirsutism, Acne, Alopecia OMIM:604931
Prolidase Deficiency
Hepatomegaly, Anemia, Increased circulating antibody level, Facial hirsutism, Low posterior hairl... OMIM:170100
Reticulate Acropigmentation Of Kitamura
Hyperkeratosis OMIM:615537
Bullous Dystrophy, Hereditary Macular Type
Alopecia totalis, Abnormality of the nail OMIM:302000
Corticosteroid-Sensitive Aseptic Abscess Syndrome
Liver abscess, Abnormal lymph node morphology, Anemia, Elevated circulating C-reactive protein co... ORPHA:54251
Cholestasis-Lymphedema Syndrome
Cirrhosis, Jaundice, Hepatomegaly, Hyperlipidemia, Erysipelas, Splenomegaly, Conjugated hyperbili... OMIM:214900
Epidermolytic Palmoplantar Keratoderma
Diffuse palmoplantar hyperkeratosis, Camptodactyly, Interphalangeal joint contracture of finger, ... ORPHA:2199
Cole Disease
Abnormal blood phosphate concentration, Abnormal hair morphology, Abnormality of the nail, Hyperk... OMIM:615522
Alopecia Universalis
Abnormal circulating lipid concentration, Abnormality of the nail, Absent eyelashes, Patchy alope... ORPHA:701
Juvenile Arthritis
Skin rash, Thrombocytosis, Leukocytosis OMIM:618795
Heme Oxygenase 1 Deficiency
Increased circulating ferritin concentration, Hepatomegaly, Increased circulating interleukin 6 c... OMIM:614034
Hyperkeratosis-Hyperpigmentation Syndrome
Hyperkeratosis ORPHA:1336
Systemic-Onset Juvenile Idiopathic Arthritis
Hepatomegaly, Lymphadenopathy, Elevated circulating C-reactive protein concentration, Arthritis, ... ORPHA:85414
Autoimmune Disease, Multisystem, Infantile-Onset, 1
Autoimmune hemolytic anemia, Delayed puberty, Neutropenia in presence of anti-neutropil antibodie... OMIM:615952
Hemophagocytic Lymphohistiocytosis, Familial, 2
Hypertriglyceridemia, Jaundice, Anemia, Lymphadenopathy, Hemophagocytosis, Pancytopenia, Hepatome... OMIM:603553
Epidermolysis Bullosa Simplex 4, Localized Or Generalized Intermediate, Autosomal Recessive
Hyperkeratosis OMIM:615028
Monilethrix
Nail dysplasia, Perifollicular hyperkeratosis, Nail dystrophy, Brittle hair, Abnormality of hair ... OMIM:158000
Schopf-Schulz-Passarge Syndrome
Narrow nail, Nail dystrophy, Thin nail, Ridged nail, Small nail, Hyperkeratosis, Poroma, Apocrine... OMIM:224750
Hyper-Igd Syndrome
Chronic oral candidiasis, Lymphadenopathy, Arthritis, Increased circulating IgA level, Skin rash,... OMIM:260920
Palmoplantar Keratoderma And Congenital Alopecia 1
Nail dysplasia, Leukonychia, Brittle hair, Sparse eyebrow, Sparse hair, Palmoplantar keratoderma,... OMIM:104100
Agammaglobulinemia 1, Autosomal Recessive
Recurrent otitis media, Panhypogammaglobulinemia, Recurrent respiratory infections, Recurrent bac... OMIM:601495
Iga Pemphigus
Increased circulating IgA level, Monoclonal elevation of circulating IgA, Eosinophilia, Pustule, ... ORPHA:555905
Olmsted Syndrome 1
Nail dysplasia, Nail dystrophy, Parakeratosis, Periorificial hyperkeratosis, Hyperparakeratosis, ... OMIM:614594
Congenital Ichthyosiform Erythroderma
Ichthyosis, Palmoplantar keratoderma, Abnormality of the nail, Keratitis, Erythroderma, Pruritus,... ORPHA:79394
Erythrokeratoderma ''En Cocardes''
Hyperkeratosis ORPHA:315
Sneddon Syndrome
Decreased circulating total IgM, Atrophic scars, Lymphopenia OMIM:182410
Hyperkeratosis Lenticularis Perstans
Hyperkeratosis lenticularis perstans OMIM:144150
Angioma Serpiginosum, Autosomal Dominant
Hyperkeratosis OMIM:106050
Papillomatosis, Confluent And Reticulated
Hyperkeratosis OMIM:167900
Ectodermal Dysplasia-Syndactyly Syndrome 1
Coarse hair, Small nail, Patchy alopecia, Sparse scalp hair, Sparse eyelashes, Enamel hypoplasia,... OMIM:613573
Dyskeratosis Congenita, Autosomal Recessive 5
Nail dystrophy, Decreased circulating antibody level, Bone marrow hypocellularity, Leukopenia, Co... OMIM:615190
Netherton Syndrome
Trichorrhexis nodosa, Ichthyosis, Acanthosis nigricans, Abnormal hair morphology, Increased circu... ORPHA:634
Familial Cold Autoinflammatory Syndrome 1
Elevated circulating C-reactive protein concentration, Arthritis, Skin rash, Leukocytosis, Conjun... OMIM:120100
Prolidase Deficiency
Hepatomegaly, Hyperkeratosis, Hirsutism, White forelock, Abnormal fingernail morphology, Generali... ORPHA:742
Flynn-Aird Syndrome
Hyperkeratosis, Alopecia of scalp, Alopecia OMIM:136300
Progressive Multifocal Leukoencephalopathy
Abnormal proportion of CD4-positive T cells, Decreased proportion of CD8-positive T cells, Mening... ORPHA:217260
Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency
Skin rash, Psoriasiform dermatitis, Cholecystitis, Allergic rhinitis, Cholangitis, Recurrent tons... ORPHA:183675
Ectodermal Dysplasia 4, Hair/Nail Type
Nail dystrophy, Brittle hair, Abnormal sweat gland morphology, Absent eyelashes, Absent eyebrow, ... OMIM:602032
Alopecia-Intellectual Disability Syndrome
Ichthyosis, Sparse scalp hair, Hypergonadotropic hypogonadism, Sparse body hair, Flexion contract... ORPHA:2850
Acute Generalized Exanthematous Pustulosis
Cheilitis, Lymphadenopathy, Cholestasis, Leukocytosis, Predominantly dermal neutrophilic infiltra... ORPHA:293173
Incontinentia Pigmenti
Nail dysplasia, Nail dystrophy, Ridged nail, Sparse hair, Fine hair, Breast hypoplasia, Hyperkera... OMIM:308300
Refractory Celiac Disease
Normocytic anemia, Iron deficiency anemia, Macrocytic anemia, Hypocalcemia, Hypoproteinemia, Incr... ORPHA:398063
Nodular Lymphocyte Predominant Hodgkin Lymphoma
Splenomegaly, Hepatomegaly, Lymphadenopathy, Pruritus ORPHA:86893
Immunodeficiency 91 And Hyperinflammation
Hepatomegaly, Lymphadenopathy, Hemophagocytosis, Elevated circulating C-reactive protein concentr... OMIM:619644
Hemochromatosis, Type 1
Increased circulating ferritin concentration, Cirrhosis, Hepatomegaly, Hepatocellular carcinoma, ... OMIM:235200
Trichodysplasia-Xeroderma Syndrome
Trichorrhexis nodosa, Coarse hair, Brittle hair, Sparse scalp hair, Sparse body hair, Sparse eyeb... ORPHA:3361
Congenital Disorder Of Glycosylation, Type Iq
Ichthyosis, Hyperkeratosis, Eczematoid dermatitis, Microcytic anemia, Hypertrichosis OMIM:612379
Trichothiodystrophy 1, Photosensitive
Trichorrhexis nodosa, Nail dystrophy, Keratoconjunctivitis sicca, Brittle hair, Small nail, Hyper... OMIM:601675
Mast Cell Sarcoma
Hepatomegaly, Mediastinal lymphadenopathy, Lymphadenopathy, Mastocytosis, Splenomegaly ORPHA:66661
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 3
Recurrent otitis media, Abnormal B cell morphology, Decreased circulating antibody level, Agammag... OMIM:616910
Porphyria, Congenital Erythropoietic
Joint contracture of the hand, Jaundice, Loss of eyelashes, Hepatomegaly, Cholelithiasis, Corneal... OMIM:263700
Aggressive Systemic Mastocytosis
Anemia, Lymphadenopathy, Increased proportion of CD25+ mast cells, Pancytopenia, Maculopapular ex... ORPHA:98850
Monilethrix
Brittle hair, Slow-growing hair, Abnormality of the nail, Abnormal eyelash morphology, Patchy alo... ORPHA:573
Felty Syndrome
Chronic otitis media, Hepatomegaly, Anemia, Lymphadenopathy, Arthritis, Abnormal lymphocyte morph... ORPHA:47612
Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia
Delayed puberty, Decreased response to growth hormone stimulation test, Pneumonia, Pyoderma, Recu... OMIM:307200
Bone Marrow Failure Syndrome 3
Aplastic anemia, Nail dystrophy, Hyperechogenic pancreas, Small nail, Bone marrow hypocellularity... OMIM:617052
Mogs-Cdg
Hepatomegaly, Alopecia, Decreased circulating antibody level, Inappropriate antidiuretic hormone ... ORPHA:79330
Nicolaides-Baraitser Syndrome
Curly eyelashes, Highly arched eyebrow, Abnormal testis morphology, Long eyelashes, Eczematoid de... ORPHA:3051
Autoinflammatory Syndrome, Familial, Behcet-Like 1
Skin rash, Lymphopenia, Thrombocytopenia, Anterior uveitis, Hemolytic anemia, Colitis OMIM:616744
Retinal Dystrophy, Iris Coloboma, And Comedogenic Acne Syndrome
Comedonal acne, Decreased retinol-binding protein level, Follicular hyperkeratosis OMIM:615147
Diffuse Cutaneous Mastocytosis
Hepatomegaly, Lymphadenopathy, Lymphocytosis, Myeloproliferative disorder, Thickened skin, Abnorm... ORPHA:79456
Majeed Syndrome
Acne, Hypochromic microcytic anemia, Hepatomegaly, Leukocytosis, Synovitis, Pustule, Osteomyeliti... ORPHA:77297
Hemophagocytic Lymphohistiocytosis, Familial, 1
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Jaundice, Anemia, Lymphadenopathy,... OMIM:267700
Biotinidase Deficiency
Hepatomegaly, Seborrheic dermatitis, Skin rash, Hyperammonemia, Splenomegaly, Conjunctivitis, Rec... OMIM:253260
Immunodeficiency, Developmental Delay, And Hypohomocysteinemia
Hypocystinemia, Decreased circulating antibody level, Decreased serum creatinine, Hypohomocystein... OMIM:617744
Immunodeficiency 12
Cheilitis, Absent isohemagglutinin level, Recurrent aphthous stomatitis, Complete or near-complet... OMIM:615468
Pityriasis Rubra Pilaris
Ichthyosis, Palmoplantar keratoderma, Abnormality of the nail, Eczematoid dermatitis, Thickened s... ORPHA:2897
Intellectual Developmental Disorder, X-Linked, Syndromic, Chudley-Schwartz Type
Hirsutism, Synophrys, Decreased circulating IgG level, Decreased circulating total IgM, Decreased... OMIM:300861
Purine Nucleoside Phosphorylase Deficiency
Autoimmune hemolytic anemia, Recurrent lower respiratory tract infections, Neutropenia in presenc... OMIM:613179
Immunodeficiency 100 With Pulmonary Alveolar Proteinosis And Hypogammaglobulinemia
Intraalveolar phospholipid accumulation, Decreased circulating antibody level, Leukocytosis, Sple... OMIM:618042
Acute Radiation Syndrome
Hyperkeratosis, Inflammatory abnormality of the skin, Thrombocytopenia, Lymphopenia, Interstitial... ORPHA:454831
Alopecia-Intellectual Disability Syndrome 4
Erythroderma, Ichthyosis, Bilateral cryptorchidism, Alopecia OMIM:618840
Cinca Syndrome
Hepatomegaly, Anemia, Lymphadenopathy, Elevated circulating C-reactive protein concentration, Inf... ORPHA:1451
Acrokeratoelastoidosis Of Costa
Hyperkeratotic papule, Palmoplantar hyperkeratosis, Hypergranulosis, Orthokeratosis, Granulomatosis ORPHA:38
Acquired Hypertrichosis Lanuginosa
Ichthyosis, Ovarian neoplasm, Lymphadenopathy, Hypopigmentation of hair, Acanthosis nigricans, Th... ORPHA:2221
Graft Versus Host Disease
Gastrointestinal inflammation, Dupuytren contracture, Jaundice, Lymphadenopathy, Hemophagocytosis... ORPHA:39812
Idiopathic Localized Lipodystrophy
Lipoatrophy, Morphea, Reduced subcutaneous adipose tissue, Absence of subcutaneous fat, Inflammat... ORPHA:90158
Pseudopelade Of Brocq
Cheilitis, Abnormal hair morphology, Abnormality of the nail, Sparse scalp hair, Aplasia/Hypoplas... ORPHA:129
Hypotrichosis 6
Brittle hair, Sparse eyelashes, Sparse eyebrow, Pruritus, Sparse hair, Pili torti, Follicular hyp... OMIM:607903
Immunodeficiency 110 With Lymphoproliferation
Autoimmune hemolytic anemia, Recurrent aphthous stomatitis, Chronic mucocutaneous candidiasis, Mo... OMIM:614868
Congenital Disorder Of Glycosylation, Type Iir
Jaundice, Hepatomegaly, Decreased circulating antibody level, Micronodular cirrhosis, Decreased p... OMIM:301045
Deafness-Lymphedema-Leukemia Syndrome
Acute leukemia, Chronic otitis media, Hepatomegaly, Lymphadenopathy, Abnormal neutrophil count, M... ORPHA:3226
Mucoepithelial Dysplasia, Hereditary
Nail dysplasia, Nail dystrophy, Follicular hyperkeratosis, Chronic monilial nail infection, Chron... OMIM:158310
Syndromic Diarrhea
Panhypogammaglobulinemia, Splenomegaly, Lymphopenia, Inguinal hernia, Brittle hair, Woolly hair, ... ORPHA:84064
Aicardi-Goutieres Syndrome 5
Increased circulating interferon-gamma concentration, Thrombocytopenia, Flexion contracture, Chil... OMIM:612952
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome
Skin rash, Bone marrow hypocellularity, Recurrent sinusitis, Leukopenia, Splenomegaly, Lymphopeni... OMIM:615688
Lichen Planopilaris
Hyperkeratosis, Onycholysis, Abnormal fingernail morphology, Hepatitis, Pruritus, Alopecia ORPHA:525
Atelis Syndrome 1
Anemia, Eczematoid dermatitis, Hypothyroidism, Thrombocytopenia, Leukopenia, Bronchiectasis, Decr... OMIM:620184
Autosomal Dominant Severe Congenital Neutropenia
Aplastic anemia, Acute myeloid leukemia, Recurrent aphthous stomatitis, Periodontitis, Acute lymp... ORPHA:486
Autoimmune Polyendocrine Syndrome, Type Ii
Cirrhosis, Iron deficiency anemia, Chronic mucocutaneous candidiasis, Keratoconjunctivitis, Asple... OMIM:269200
Autoinflammation With Episodic Fever And Lymphadenopathy
Hepatomegaly, Lymphadenopathy, Recurrent tonsillitis, Splenomegaly, Microcytic anemia OMIM:618852
Crandall Syndrome
Brittle hair, Abnormal testis morphology, Sparse body hair, Hypogonadism, Aplasia/Hypoplasia of t... ORPHA:202
Immunodeficiency 113 With Autoimmunity And Autoinflammation
Autoimmune hemolytic anemia, Hepatomegaly, Elevated circulating C-reactive protein concentration,... OMIM:620565
Generalized Pustular Psoriasis
Cheilitis, Elevated circulating C-reactive protein concentration, Hypocalcemia, Arthritis, Abnorm... ORPHA:247353
Sweet Syndrome
Anemia, Acute myeloid leukemia, Increased circulating interleukin 6 concentration, Chronic lympha... ORPHA:3243
Ichthyosis, Congenital, Autosomal Recessive 5
Parakeratosis, Palmoplantar keratoderma, Congenital nonbullous ichthyosiform erythroderma, Erythr... OMIM:604777
Erythrokeratodermia Variabilis Et Progressiva 6
Parakeratosis, Superficial dermal perivascular inflammatory infiltrate, Pruritus, Abnormal hair m... OMIM:618531
Roifman Syndrome
Recurrent otitis media, Hepatomegaly, Lymphadenopathy, Eczematoid dermatitis, Hip contracture, Re... OMIM:616651
Bloom Syndrome
Cheilitis, Skin rash, Acute myeloid leukemia, Recurrent tonsillitis, Decreased circulating antibo... ORPHA:125
Necrobiosis Lipoidica
Atrophic scars, Abnormality of neutrophil physiology, Granuloma, Inflammatory abnormality of the ... ORPHA:542592
Granulomatous Disease, Chronic, Autosomal Recessive, 1
Liver abscess, Hepatomegaly, Lymphadenopathy, Rectal abscess, Discoid lupus rash, Lymphadenitis, ... OMIM:233700
Granulomatous Disease, Chronic, Autosomal Recessive, 2
Liver abscess, Hepatomegaly, Lymphadenopathy, Rectal abscess, Discoid lupus rash, Lymphadenitis, ... OMIM:233710
Classic Hodgkin Lymphoma
Hepatomegaly, Lymphadenopathy, Skin rash, Bone marrow hypocellularity, Splenomegaly, Pruritus ORPHA:391
Cardiomyopathy, Dilated, With Woolly Hair, Keratoderma, And Tooth Agenesis
Leukonychia, Nail dystrophy, Parakeratosis, Ichthyosis, Hyperkeratosis, Woolly hair, Fragile nail... OMIM:615821
Bullous Impetigo
Septic arthritis, Abnormality of the lymphatic system, Pustule, Recurrent bacterial skin infections ORPHA:36237
Aregenerative Anemia
Erythroid hypoplasia, Lymphadenopathy, Pancytopenia, Abnormal proportion of CD8-positive T cells,... ORPHA:101096
Papillon-Lefèvre Syndrome
Nail dystrophy, Liver abscess, Severe periodontitis, Palmoplantar keratoderma, Periodontitis, Abn... ORPHA:678
Pressure-Induced Localized Lipoatrophy
Lipoatrophy, Reduced subcutaneous adipose tissue, Inflammatory abnormality of the skin, Absence o... ORPHA:90160
Celiac Disease, Susceptibility To, 1
Delayed puberty, Iron deficiency anemia, Macrocytic anemia, Recurrent aphthous stomatitis, Hypoca... OMIM:212750
Drug Reaction With Eosinophilia And Systemic Symptoms
Myocarditis, Lymphadenopathy, Lymphocytosis, Thyroiditis, Skin rash, Interstitial pneumonitis, Pu... ORPHA:139402
Muckle-Wells Syndrome
Delayed puberty, Hepatomegaly, Anemia, Recurrent aphthous stomatitis, Ichthyosis, Arthritis, Skin... ORPHA:575
Gamma-Heavy Chain Disease
Autoimmune hemolytic anemia, Hepatomegaly, Anemia, Lymphadenopathy, Skin rash, Abnormal lymphocyt... ORPHA:100026
Pfapa Syndrome
Hepatomegaly, Lymphadenopathy, Arthritis, Splenomegaly, Infectious encephalitis ORPHA:42642
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency
Nail dystrophy, Hepatomegaly, Anemia, Lymphadenopathy, Hypoproteinemia, Cholestasis, Lymphadeniti... OMIM:615895
Adenocarcinoma Of The Esophagus
Lymphadenopathy ORPHA:99976
Granulomatous Disease, Chronic, Autosomal Recessive, 4
Liver abscess, Hepatomegaly, Lymphadenopathy, Rectal abscess, Discoid lupus rash, Lymphadenitis, ... OMIM:233690
Common Variable Immunodeficiency
Chronic otitis media, Lymphadenopathy, Decreased circulating antibody level, Bronchiectasis, Abno... ORPHA:1572
Legionnaires Disease
Myocarditis, Jaundice, Pancreatitis, Lymphadenopathy, Bone marrow hypocellularity, Hyponatremia, ... ORPHA:549
Macrocephaly/Autism Syndrome
Recurrent otitis media, Hepatomegaly, Decreased circulating antibody level, Splenomegaly, Lymphop... OMIM:605309
Dracunculiasis
Arthritis, Skin rash, Flexion contracture, Recurrent cutaneous abscess formation, Cellulitis, Pru... ORPHA:231
Keratosis Follicularis Spinulosa Decalvans, X-Linked
Dystrophic fingernails, Nail dystrophy, Scarring alopecia of scalp, Folliculitis, Sparse eyelashe... OMIM:308800
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome
Decreased proportion of CD8-positive T cells, Increased circulating IgE level, Decreased circulat... ORPHA:508533
Keratosis Linearis With Ichthyosis Congenita And Sclerosing Keratoderma
Nail dystrophy, Ichthyosis, Parakeratosis, Linear arrays of macular hyperkeratoses in flexural ar... OMIM:601952
Erosive Pustular Dermatosis Of The Scalp
Pustule, Abnormal hair morphology, Scarring alopecia of scalp ORPHA:222
Ichthyosis, Congenital, Autosomal Recessive 14
Orthokeratotic hyperkeratosis, Hyperkeratosis, Congenital nonbullous ichthyosiform erythroderma, ... OMIM:617571
Dyskeratosis Congenita, Autosomal Dominant 3
Aplastic anemia, Premature graying of hair, Nail dystrophy, Nail dysplasia, Anemia, Macrocytic an... OMIM:613990
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia
Lymphadenopathy, Elevated circulating C-reactive protein concentration, Lymphocytosis, Decreased ... OMIM:617718
Immunodeficiency 47
Decreased circulating total IgG, Normocytic anemia, Hepatic steatosis, Cirrhosis, Hepatomegaly, D... OMIM:300972
Erythrokeratodermia Variabilis Et Progressiva 4
Hyperkeratosis, Congenital nonbullous ichthyosiform erythroderma, Palmoplantar hyperkeratosis OMIM:617526
Mandibuloacral Dysplasia
Hypertriglyceridemia, Lipoatrophy, Hyperinsulinemia, Hypoplastic fingernail, Acanthosis nigricans... ORPHA:2457
Mevalonic Aciduria
Morbilliform rash, Fluctuating splenomegaly, Anemia, Lymphadenopathy, Elevated circulating C-reac... OMIM:610377
Vohwinkel Syndrome, Variant Form
Parakeratosis, Abnormal hair morphology, Hyperkeratosis, Honeycomb palmoplantar hyperkeratosis, H... OMIM:604117
Ichthyosis Prematurity Syndrome
Alopecia of scalp, Generalized ichthyosis, Pruritus, Erythroderma, Allergic rhinitis, Follicular ... OMIM:608649
Syndromic Recessive X-Linked Ichthyosis
Acute leukemia, Ichthyosis, Hyperkeratosis, Testicular seminoma, Hypogonadism, Cryptorchidism ORPHA:281090
Trichothiodystrophy 7, Nonphotosensitive
Ichthyosis, Brittle hair, Tiger tail banding, Congenital nonbullous ichthyosiform erythroderma, F... OMIM:618546
Pyoderma Gangrenosum
Increased circulating antibody level, Myositis, Atrophic scars, Rheumatoid arthritis, Inflammatio... ORPHA:48104
Vici Syndrome
Hypopigmentation of hair, Chronic mucocutaneous candidiasis, Elevated circulating creatine kinase... OMIM:242840
Lamellar Ichthyosis
Chronic otitis media, Ichthyosis, Abnormality of the nail, Hyperkeratosis, Sparse hair, Aplasia/H... ORPHA:313
Kyphoscoliotic Ehlers-Danlos Syndrome Due To Fkbp22 Deficiency
Atrophic scars, Hernia, Elevated circulating creatine kinase concentration, Follicular hyperkerat... ORPHA:300179
Immunodeficiency 23
Increased circulating IgG level, Increased circulating IgE level, Chronic mucocutaneous candidias... OMIM:615816
Dyskeratosis Congenita, Digenic
Nail dystrophy, Anemia, Decreased testicular size, Decreased circulating IgG level, Sparse eyelas... OMIM:620040
Disabling Pansclerotic Morphea Of Childhood
Morphea, Elevated circulating C-reactive protein concentration, Joint contracture, Lymphopenia, N... OMIM:620443
Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis
Macrocytic anemia, Rectal abscess, Reduction of neutrophil motility, Leukocytosis, Neutrophilia, ... OMIM:608203
Immunodeficiency 26 With Or Without Neurologic Abnormalities
B lymphocytopenia, Recurrent aphthous stomatitis, Abnormal natural killer cell morphology, T lymp... OMIM:615966
Familial Benign Copper Deficiency
Early balding, Anemia, Decreased circulating copper concentration, Acne ORPHA:1551
Combined Immunodeficiency-Enteropathy Spectrum
Autoimmune hemolytic anemia, Nail dystrophy, Alopecia of scalp, Rectal abscess, Peritoneal absces... ORPHA:436252
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome
Anemia, Accessory spleen, Portal hypertension, Hypothyroidism, Decreased circulating IgG level, S... OMIM:620005
Autoinflammatory Disease, Systemic, With Vasculitis
Cholestasis, Increased T cell count, Splenomegaly, Jaundice, Increased circulating interleukin 6 ... OMIM:620376
Immunodeficiency 32A
Granuloma, Lymphadenitis, Lymphadenopathy OMIM:614893
Pachyonychia Congenita
Palmar hyperkeratosis, Nail dystrophy, Palmoplantar keratoderma, Follicular hyperkeratosis, Onych... ORPHA:2309
Hidrotic Ectodermal Dysplasia, Halal Type
Nail dysplasia, Absent eyelashes, Sparse scalp hair, Absent eyebrow, Sparse body hair, Abnormal f... ORPHA:1809
Immunodeficiency 58
Chronic otitis media, Ichthyosis, Recurrent aphthous stomatitis, Seborrheic dermatitis, Atrophic ... OMIM:618131
Systemic Lupus Erythematosus
Decreased circulating complement C3 concentration, Cheilitis, Lymphadenopathy, Lupus nephritis, M... ORPHA:536
Chediak-Higashi Syndrome
Jaundice, Anemia, Lymphadenopathy, Hemophagocytosis, Silver-gray hair, Hypopigmentation of hair, ... OMIM:214500
Ectodermal Dysplasia 12, Hypohidrotic/Hair/Tooth/Nail Type
Trichorrhexis nodosa, Nail dystrophy, Scarring alopecia of scalp, Eczematoid dermatitis, Sparse l... OMIM:617337
Immunodeficiency 59 And Hypoglycemia
High anterior hairline, Hepatomegaly, Recurrent aphthous stomatitis, Arteritis, Decreased proport... OMIM:233600
Rhizomelic Chondrodysplasia Punctata, Type 1
Elevated circulating phytanic acid concentration, Ichthyosis, Flexion contracture, Alopecia OMIM:215100
Pili Torti
Brittle hair, Abnormality of the nail, Abnormal dental enamel morphology, Abnormality of hair tex... ORPHA:2889
Poems Syndrome
Leukonychia, Hepatomegaly, Lymphadenopathy, Increased circulating antibody level, Abnormality of ... ORPHA:2905
Autosomal Dominant Epidermolytic Ichthyosis
Ichthyosis, Palmoplantar keratoderma, Hyperkeratosis, Congenital bullous ichthyosiform erythroder... ORPHA:312
Lipoid Proteinosis
Scarring, Alopecia of scalp, Hyperkeratosis, Thickened skin, Pustule, Acne ORPHA:530
Atrophoderma Vermiculata
Atrophic scars, Pruritus, Hyperkeratotic papule, Follicular hyperkeratosis ORPHA:79100
Variegate Porphyria, Childhood-Onset
Scarring, Epidermal hyperkeratosis, Increased erythrocyte protoporphyrin concentration, Atopic de... OMIM:620483
Hermansky-Pudlak Syndrome 9
Recurrent skin infections, Thrombocytopenia, Leukopenia, Abnormal platelet aggregation OMIM:614171
Hypohidrotic Ectodermal Dysplasia-Hypothyroidism-Ciliary Dyskinesia Syndrome
Dystrophic fingernails, Dystrophic toenail, Sparse scalp hair, Hypothyroidism, Sparse eyebrow, Fi... ORPHA:1882
Hepatoportal Sclerosis
Abnormal liver parenchyma morphology, Jaundice, Anemia, Periportal fibrosis, Hyperbilirubinemia, ... ORPHA:64743
Deafness, Autosomal Dominant 34, With Or Without Inflammation
Arthritis, Lymphadenopathy, Conjunctivitis OMIM:617772
Porphyria Cutanea Tarda, Type I
Hepatic fibrosis, Hypertrichosis, Eczematoid dermatitis OMIM:176090
Neutral Lipid Storage Disease With Ichthyosis
Hypertriglyceridemia, Hepatomegaly, Abnormal granulocyte morphology, Congenital nonbullous ichthy... ORPHA:98907
Tafro Syndrome
Hepatomegaly, Anemia, Lymphadenopathy, Elevated circulating C-reactive protein concentration, Inc... ORPHA:457077
Immunodeficiency 31C
Autoimmune hemolytic anemia, Delayed puberty, Chronic oral candidiasis, Hepatomegaly, Impaired ly... OMIM:614162
Neutropenia, Severe Congenital, 8, Autosomal Dominant
Exocrine pancreatic insufficiency, Abnormal immunoglobulin level, Neutropenia OMIM:618752
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay
Hypochromic microcytic anemia, Brittle hair, B lymphocytopenia, Decreased circulating antibody le... OMIM:616084
Drug-Induced Lupus Erythematosus
Decreased circulating complement C3 concentration, Anemia, Elevated circulating C-reactive protei... ORPHA:231111
Ectodermal Dysplasia-Syndactyly Syndrome 2
Enamel hypoplasia, Congenital bullous ichthyosiform erythroderma, Sparse hair, Palmoplantar kerat... OMIM:613576
Sjögren-Larsson Syndrome
Abnormal dental enamel morphology, Hyperkeratosis, Ichthyosis, Inflammatory abnormality of the eye ORPHA:816
Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome
Alopecia, Absent eyelashes, Abnormality of the lymphatic system, Sparse scalp hair, Absent eyebro... ORPHA:69735
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form
Scarring, Nail dystrophy, Anemia, Onychogryposis, Atrophic scars, Decreased circulating antibody ... ORPHA:79396
Lipodystrophy, Congenital Generalized, Type 4
Hypertriglyceridemia, Hyperinsulinemia, Hepatomegaly, Acanthosis nigricans, Hirsutism, Elevated c... OMIM:613327
Schöpf-Schulz-Passarge Syndrome
Ovarian neoplasm, Sparse hair, Aplasia/Hypoplasia of the eyebrow, Palmoplantar keratoderma, Alopecia ORPHA:50944
Autosomal Dominant Hyper-Ige Syndrome Due To Stat3 Deficiency
Chronic otitis media, Dystrophic fingernails, Abnormal hair morphology, Increased circulating IgE... ORPHA:2314
Vexas Syndrome
Nasal chondritis, Elevated circulating C-reactive protein concentration, Macrocytic anemia, Arter... OMIM:301054
Idiopathic Non-Lupus Full-House Nephropathy
Decreased circulating complement C3 concentration, Arthritis, Skin rash, Reduced circulating comp... ORPHA:567544
Dyskeratosis Congenita
Premature graying of hair, Nail dystrophy, Neoplasm of the pancreas, Aplastic/hypoplastic toenail... ORPHA:1775
Ectodermal Dysplasia 15, Hypohidrotic/Hair Type
Slow-growing hair, Sparse scalp hair, Eczematoid dermatitis, Sparse eyelashes, Blepharitis, Spars... OMIM:618535
Aplasia Cutis Congenita With Intestinal Lymphangiectasia
Intestinal lymphangiectasia, Hypoproteinemia, Lymphopenia OMIM:207731
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome
Autoimmune hemolytic anemia, Delayed puberty, Abnormal circulating interferon-gamma concentration... ORPHA:391487
Transcobalamin Ii Deficiency
Hepatomegaly, Anemia, Erythroid hypoplasia, Macrocytic anemia, Pancytopenia, Hyperhomocystinemia,... OMIM:275350
Lymphatic Filariasis
Lymphangiectasis, Lymphadenopathy, Circulating immune complexes, Knee osteoarthritis, Abnormality... ORPHA:2035
Autosomal Erythropoietic Protoporphyria
Cirrhosis, Cholelithiasis, Eczematoid dermatitis, Abnormal circulating porphyrin concentration, M... ORPHA:79278
Congenital Disorder Of Glycosylation, Type Im
Ichthyosis, Hyperkeratosis, Sparse eyelashes, Sparse eyebrow, Inflammatory abnormality of the ski... OMIM:610768
Chondroitin-6-Sulfaturia, Defective Cellular Immunity, Nephrotic Syndrome
Abnormal T cell morphology, Macronodular cirrhosis, Decreased circulating IgA level OMIM:215250
Neutropenia, Severe Congenital, 4, Autosomal Recessive
Perianal abscess, Hepatomegaly, Anemia, Erythroid hypoplasia, Inguinal hernia, Panniculitis, Hypo... OMIM:612541
Gaucher Disease Type 1
Delayed puberty, Decreased HDL cholesterol concentration, Cirrhosis, Anemia, Increased circulatin... ORPHA:77259
Glycogen Storage Disease Due To Lactate Dehydrogenase M-Subunit Deficiency
Parakeratosis, Superficial dermal perivascular inflammatory infiltrate, Predominantly dermal neut... ORPHA:284426
Amyloidosis, Familial Visceral
Skin rash, Hepatomegaly, Cholestasis, Splenomegaly OMIM:105200
Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome
Absent eyelashes, Sparse scalp hair, Absent eyebrow, Sparse eyelashes, Hydrocele testis, Reduced ... OMIM:137940
Systemic Lupus Erythematosus
Malar rash, Arthritis, Pericarditis, Nephritis, Thrombocytopenia, Leukopenia, Hemolytic anemia, L... OMIM:152700
Palmoplantar Keratoderma I, Striate, Focal, Or Diffuse
Nail dystrophy, Yellow nails, Onycholysis, Orthokeratotic hyperkeratosis, Streaks of hyperkeratos... OMIM:148700
Zika Virus Disease
Myelitis, Arthritis, Skin rash, Increased circulating IgM level, Thrombocytopenia, Pruritus, Infe... ORPHA:448237
Holocarboxylase Synthetase Deficiency
Hyperammonemia, Skin rash, Thrombocytopenia, Alopecia OMIM:253270
Dermatitis, Atopic
Ichthyosis, Atopic dermatitis, Eczematoid dermatitis, Pruritus, Conjunctivitis, Recurrent skin in... OMIM:603165
Alopecia Totalis
Alopecia of scalp, Inflammation of the large intestine, Onycholysis, Nail pits, Fragile nails, Tr... ORPHA:700
Autoimmune Disease, Multisystem, With Facial Dysmorphism
Hepatomegaly, Pancytopenia, Camptodactyly, Portal hypertension, Hypothyroidism, Hashimoto thyroid... OMIM:613385
B4Galt1-Cdg
Hepatomegaly, Elevated circulating creatine kinase concentration, Hypothyroidism, Decreased LDL c... ORPHA:79332
Rothmund-Thomson Syndrome
Aplastic anemia, Nail dysplasia, Calcinosis, Palmar hyperkeratosis, Anemia, Small nail, Malar ras... ORPHA:2909
Ichthyosis, Congenital, Autosomal Recessive 2
Thin nail, Small nail, Abnormal hair morphology, Congenital ichthyosiform erythroderma, Hyperkera... OMIM:242100
Leukodystrophy, Hypomyelinating, 24
Hypothyroidism, B lymphocytopenia, Flexion contracture OMIM:619851
Ichthyosis-Alopecia-Eclabion-Ectropion-Intellectual Disability Syndrome
Alopecia of scalp, Generalized hyperkeratosis, Absent pubic hair, Generalized ichthyosis, Sparse ... ORPHA:2269
Hydroa Vacciniforme
Scarring, Malar rash, Superficial dermal perivascular inflammatory infiltrate, Eczematoid dermati... ORPHA:330058
Proteasome-Associated Autoinflammatory Syndrome 4
Autoimmune hemolytic anemia, Generalized lipodystrophy, Panniculitis, Lymphadenopathy, Hepatomega... OMIM:619183
Primary Myelofibrosis
Hepatomegaly, Anemia, Lymphadenopathy, Thrombocytosis, Pancytopenia, Leukocytosis, Portal hyperte... ORPHA:824
Congenital Enterovirus Infection
Myocarditis, Anemia, Abnormal macrophage morphology, Skin rash, Cholestasis, Leukocytosis, Hypera... ORPHA:292
Autosomal Recessive Hypohidrotic Ectodermal Dysplasia
Abnormal hair morphology, Abnormal fingernail morphology, Abnormal toenail morphology, Fine hair,... ORPHA:248
Proteasome-Associated Autoinflammatory Syndrome 1
Hypertriglyceridemia, Premature graying of hair, Decreased HDL cholesterol concentration, Flexion... OMIM:256040
Pigmented Nodular Adrenocortical Disease, Primary, 4
Alopecia, Hirsutism, Adrenal hyperplasia, Acne, Dorsocervical fat pad, Diabetes mellitus, Primary... OMIM:615830
Tumor Necrosis Factor Receptor 1 Associated Periodic Syndrome
Lymphadenopathy, Elevated circulating C-reactive protein concentration, Myositis, Arthritis, Skin... ORPHA:32960
Follicular Lymphoma
Splenomegaly, Mediastinal lymphadenopathy, Lymphadenopathy, Abnormal peritoneum morphology ORPHA:545
Mednik Syndrome
Intrahepatic cholestasis, Ichthyosis, Decreased circulating ceruloplasmin concentration, Decrease... ORPHA:171851
Chronic Nonbacterial Osteomyelitis/Chronic Recurrent Multifocal Osteomyelitis
Anemia, Elevated circulating C-reactive protein concentration, Arthritis, Skin rash, Palmoplantar... ORPHA:324964
Mycosis Fungoides
Psoriasiform dermatitis, Lymphadenopathy, Pruritus, Eczematoid dermatitis OMIM:254400
Protoporphyria, Erythropoietic, 1
Hypertriglyceridemia, Cholelithiasis, Eczematoid dermatitis, Hemolytic anemia, Pruritus OMIM:177000
Igg4-Related Aortitis
Increased circulating antibody level, Elevated circulating C-reactive protein concentration, Incr... ORPHA:449400
Zinc Deficiency, Transient Neonatal
Alopecia, Eczematoid dermatitis, Decreased serum zinc OMIM:608118
Hypotrichosis And Recurrent Skin Vesicles
Leukonychia, Sparse scalp hair, Angular cheilitis, Sparse eyelashes, Sparse body hair, Sparse eye... OMIM:613102
Immune Deficiency, Familial Variable
Decreased circulating IgG level, Decreased circulating IgA level OMIM:146830
Hypotrichosis 5
Absent pubic hair, Abnormal sweat gland morphology, Abnormality of the nail, Sparse eyelashes, Th... OMIM:612841
Dengue Fever
Hepatomegaly, Skin rash, Hypoproteinemia, Thrombocytopenia, Leukopenia, Pruritus ORPHA:99828
Hypotrichosis With Juvenile Macular Degeneration
Brittle hair, Hyperkeratosis, Sparse scalp hair, Fine hair, Pili torti ORPHA:1573
Chromomycosis
Lymphangiectasis, Hyperparakeratosis, Hyperkeratosis, Keratitis, Pruritus, Atypical scarring of s... ORPHA:182
Kid Syndrome
Nail dystrophy, Recurrent bacterial skin infections, Sparse hair, Recurrent cutaneous abscess for... ORPHA:477
Brucellosis
Granuloma, Pericarditis, Leukopenia, Splenomegaly, Anterior uveitis, Myocarditis, Increased circu... ORPHA:1304
Pseudoprogeria Syndrome
Absent eyelashes, Absent eyebrow, Sparse eyebrow, Sparse hair, Alopecia ORPHA:2985
Secondary Intestinal Lymphangiectasia
Cirrhosis, Decreased circulating IgG1 level, Decreased circulating antibody level, Decreased circ... ORPHA:90363
Ige Responsiveness, Atopic
Increased circulating IgE level, Allergic rhinitis, Eczematoid dermatitis OMIM:147050
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Dominant
Nail dysplasia, Trichiasis, Nail dystrophy, Ichthyosis, Absent pubic hair, Hyperkeratosis, Elbow ... OMIM:148210
Facial Dysmorphism, Immunodeficiency, Livedo, And Short Stature
Bronchiectasis, Decreased circulating total IgM OMIM:615139
Ebola Hemorrhagic Fever
Increased circulating antibody level, Acute pancreatitis, Thrombocytopenia, Leukopenia, Lymphopen... ORPHA:319218
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome
Anemia, Panniculitis, B lymphocytopenia, Reticulocytopenia, Eczematoid dermatitis, Bone marrow hy... ORPHA:508542
Ichthyosis, Congenital, Autosomal Recessive 6
Parakeratosis, Palmoplantar keratoderma, Generalized ichthyosis, Hyperkeratosis, Congenital nonbu... OMIM:612281
Igg4-Related Kidney Disease
Sclerosing cholangitis, Pericarditis, Increased circulating IgG4 level, Elevated circulating crea... ORPHA:449395
Autoinflammation, Immune Dysregulation, And Eosinophilia
Eosinophilic liver infiltration, Atopic dermatitis, Hypothyroidism, Hepatosplenomegaly, Colonic e... OMIM:618999
Vulvovaginal Gingival Syndrome
Parakeratosis, Abnormality of tumor necrosis factor secretion, Pruritus, Ridged nail ORPHA:83453
Incontinentia Pigmenti
Hypoplastic fingernail, Abnormal hair morphology, Abnormality of the nail, Abnormal dental enamel... ORPHA:464
Eosinophilic Gastroenteritis
Anemia, Elevated circulating C-reactive protein concentration, Leukocytosis, Atopic dermatitis, E... ORPHA:2070
Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, And Calvarial Hyperostosis
Jaundice, Hepatomegaly, Skin rash, Anemia of inadequate production, Exocrine pancreatic insuffici... OMIM:612714
Congenital Toxoplasmosis
Jaundice, Anemia, Lymphadenopathy, Hepatomegaly, Thrombocytopenia ORPHA:858
Granulomatous Disease, Chronic, X-Linked
Liver abscess, Hepatomegaly, Lymphadenopathy, Rectal abscess, Discoid lupus rash, Lymphadenitis, ... OMIM:306400
Chédiak-Higashi Syndrome
Hypertriglyceridemia, Abnormal leukocyte morphology, Skin rash, Hypoproteinemia, Abnormal platele... ORPHA:167
Stuve-Wiedemann Syndrome 2
Thrombocytopenia, Camptodactyly, Eczematoid dermatitis OMIM:619751
Marie Unna Hereditary Hypotrichosis
Sparse or absent eyelashes, Sparse scalp hair, Aplasia/Hypoplasia of the eyebrow, Coarse hair, Al... ORPHA:444
Ectodermal Dysplasia 7, Hair/Nail Type
Dystrophic fingernails, Brittle hair, Abnormal sweat gland morphology, Dystrophic toenail, Sparse... OMIM:614929
Shwachman-Diamond Syndrome
Aplastic anemia, Macrocytic anemia, Skin rash, Chronic neutropenia, Sinusitis, Bone marrow hypoce... ORPHA:811
Pelger-Huet Anomaly
Recurrent otitis media, Giant platelets, Hyposegmentation of neutrophil nuclei, Eczematoid dermat... OMIM:169400
Acrokeratosis Verruciformis Of Hopf
Leukonychia, Nail dystrophy, Hyperkeratosis, Anonychia, Punctate palmoplantar hyperkeratosis, Hyp... ORPHA:79151
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes
Nail dysplasia, Nail dystrophy, Anemia, Hypokalemia, Hypocalcemia, Hypomagnesemia, Alopecia OMIM:175500
Ramon Syndrome
Abnormal dental enamel morphology, Hyperkeratosis, Diabetes mellitus, Generalized hirsutism ORPHA:3019
Progeria-Short Stature-Pigmented Nevi Syndrome
Delayed puberty, Neoplasm of the pancreas, Alopecia, Low posterior hairline, T lymphocytopenia, H... ORPHA:2959
Erythrokeratodermia Variabilis Et Progressiva 1
Erythroderma, Patchy palmoplantar hyperkeratosis, Hypergranulosis, Generalized hyperkeratosis OMIM:133200
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome
Parakeratosis, Hepatomegaly, Cholelithiasis, Inguinal hernia, B lymphocytopenia, Seborrheic derma... ORPHA:83617
Q Fever
Myocarditis, Hepatomegaly, Anemia, Lymphadenopathy, Increased circulating antibody level, Hepatit... ORPHA:781
Rhabdoid Tumor
Anemia, Lymphadenopathy, Hypercalcemia, Thrombocytopenia, Neoplasm of the liver ORPHA:69077
Chronic Granulomatous Disease
Liver abscess, Mediastinal lymphadenopathy, Hepatomegaly, Inflammatory abnormality of the eye, Ec... ORPHA:379
Autoimmune Hepatitis
Cirrhosis, Jaundice, Increased circulating antibody level, Sclerosing cholangitis, Increased circ... ORPHA:2137
Colchicine Poisoning
Myocarditis, Hypokalemia, Hypocalcemia, Leukocytosis, Hyponatremia, Hypomagnesemia, Hypophosphate... ORPHA:31824
Adams-Oliver Syndrome
Cirrhosis, Hypoplastic fingernail, Aplastic/hypoplastic toenail, Absent fingernail, Portal hypert... ORPHA:974
Obesity Due To Congenital Leptin Deficiency
Hypertriglyceridemia, Absence of secondary sex characteristics, Hyperinsulinemia, Hypoplasia of t... ORPHA:66628
Whim Syndrome
Severe periodontitis, Parotitis, Decreased circulating antibody level, Lymphadenitis, Abnormal ne... ORPHA:51636
Wiskott-Aldrich Syndrome
Chronic otitis media, Abnormal platelet function, Sinusitis, Abnormal platelet morphology, Lympho... ORPHA:906
Neutrophilic Dermatosis, Acute Febrile
Increased circulating interleukin 6 concentration, Panniculitis, Anemia, Elevated circulating C-r... OMIM:608068
Pigmentary Disorder, Reticulate, With Systemic Manifestations, X-Linked
Broad eyebrow, Hyperkeratosis, Corneal scarring, Recurrent pneumonia, Bronchiectasis, Frontal ups... OMIM:301220
Pruritic Urticarial Papules And Plaques Of Pregnancy
Parakeratosis, Palmar pruritus, Pruritus on foot, Eczematoid dermatitis, Pruritis on abdomen, Pru... ORPHA:64745
Bacterial Toxic-Shock Syndrome
Skin rash, Sinusitis, Cellulitis, Elevated circulating creatinine concentration, Myocarditis, Hyp... ORPHA:36234
Epidermolysis Bullosa, Junctional 1A, Intermediate
Nail dystrophy, Patchy alopecia, Camptodactyly of finger, Enamel hypoplasia, Fragile nails, Plant... OMIM:226650
Reynolds Syndrome
Calcinosis, Jaundice, Hepatomegaly, Hyperbilirubinemia, Cholestasis, Biliary cirrhosis, Sclerodac... OMIM:613471
Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease
Decreased circulating ACTH concentration, Alopecia, Macronodular adrenal hyperplasia, Hirsutism, ... ORPHA:189427
Hereditary Bullous Dystrophy, Macular Type
Nail dystrophy, Atrichia, Decreased testicular size, Congenital abnormal hair pattern, Pneumonia,... ORPHA:1867
Hypohidrotic Ectodermal Dysplasia
Trichorrhexis nodosa, Breast aplasia, Slow-growing hair, Abnormal hair quantity, Inflammatory abn... ORPHA:238468
Pachydermoperiostosis
Hepatomegaly, Anemia, Abnormal hair quantity, Seborrheic dermatitis, Arthritis, Eczematoid dermat... ORPHA:2796
Intellectual Developmental Disorder, Fra12A Type
Erythroderma, Hyperkeratosis OMIM:136630
Obesity Due To Leptin Receptor Gene Deficiency
Hypertriglyceridemia, Absence of secondary sex characteristics, Hyperinsulinemia, Hypoplasia of t... ORPHA:179494
Epidermolysis Bullosa Dystrophica, Autosomal Recessive
Nail dysplasia, Nail dystrophy, Anemia, Atrophic scars, Corneal scarring, Enamel hypoplasia, Flex... OMIM:226600
Alopecia, Neurologic Defects, And Endocrinopathy Syndrome
Delayed puberty, Small pituitary gland, Reduced subcutaneous adipose tissue, Limb joint contractu... OMIM:612079
Congenital Rubella Syndrome
Jaundice, Anemia, Hepatomegaly, Skin rash, Thrombocytopenia, Splenomegaly, Type I diabetes mellitus ORPHA:290
Systemic Mastocytosis With Associated Hematologic Neoplasm
Normocytic anemia, Hepatomegaly, Lymphadenopathy, Normochromic anemia, Acute myeloid leukemia, Ch... ORPHA:98849
Inflammatory Skin And Bowel Disease, Neonatal, 2
Pustule, Increased circulating IgE level, Recurrent pneumonia, Long eyelashes OMIM:616069
Coccidioidomycosis
Abnormality of the endocrine system, Skin rash, Granuloma, Pericarditis, Erythema nodosum, Morbil... ORPHA:228123
Ectodermal Dysplasia-Sensorineural Deafness Syndrome
Joint contracture of the 5th finger, Brittle hair, Hyperkeratosis, Camptodactyly of finger, Spars... ORPHA:1883
Kaposi Sarcoma
Abnormality of the liver, Skin rash, Generalized lymphadenopathy, Abnormality of the spleen ORPHA:33276
Thymoma
Aplastic anemia, Neoplasm of the thyroid gland, Myositis, Decreased circulating antibody level, A... ORPHA:99867
Igg4-Related Submandibular Gland Disease
Enlarged lacrimal glands, Abnormal salivary gland morphology, Prostatitis, Lymphadenopathy, Abnor... ORPHA:449432
Autoimmune Polyendocrinopathy Type 2
Hypoparathyroidism, Graves disease, Hashimoto thyroiditis, Primary adrenal insufficiency, Abnorma... ORPHA:3143
Meige Disease
Recurrent bacterial skin infections, Cobblestone-like hyperkeratosis, Cellulitis, Lymph node hypo... ORPHA:90186
Congenital Adrenal Hyperplasia Due To 11-Beta-Hydroxylase Deficiency
Increased circulating androstenedione concentration, Isosexual precocious puberty, Premature puba... ORPHA:90795
Familial Mediterranean Fever
Hepatomegaly, Elevated circulating C-reactive protein concentration, Crohn's disease, Arthritis, ... OMIM:249100
Familial Papillary Or Follicular Thyroid Carcinoma
Abnormal lymph node morphology, Papillary thyroid carcinoma, Chronic noninfectious lymphadenopath... ORPHA:319487
Hypocomplementemic Urticarial Vasculitis
Hepatomegaly, Lymphadenopathy, Inflammatory abnormality of the eye, Arthritis, Skin rash, Reduced... ORPHA:36412
Hatipoglu Immunodeficiency Syndrome
Premature graying of hair, Recurrent otitis media, Anemia, Inguinal hernia, Pancytopenia, Atopic ... OMIM:620331
Smith-Kingsmore Syndrome
Curly hair, Thrombocytopenia, Umbilical hernia, Cryptorchidism, Decreased circulating IgA level OMIM:616638
Alopecia-Contractures-Dwarfism Mental Retardation Syndrome
Generalized hypoplasia of dental enamel, Flexion contracture, Alopecia OMIM:203550
Ichthyosis, Congenital, Autosomal Recessive 9
Hyperkeratosis, Congenital nonbullous ichthyosiform erythroderma, Erythroderma, Hypergranulosis, ... OMIM:615023
Johanson-Blizzard Syndrome
Anemia, Hypoproteinemia, Abnormal hair pattern, Exocrine pancreatic insufficiency, Diabetes melli... ORPHA:2315
Cystic Echinococcosis
Cholestatic liver disease, Jaundice, Abnormality of the pancreas, Increased circulating antibody ... ORPHA:400
Spondyloenchondrodysplasia With Immune Dysregulation
Recurrent otitis media, Lymphadenopathy, Juvenile rheumatoid arthritis, T lymphocytopenia, Hypoth... OMIM:607944
Sialidosis Type 1
Hyperkeratosis, Hernia, Splenomegaly ORPHA:812
Autoimmune Polyendocrinopathy Type 1
Abnormal circulating calcium-phosphate regulating hormone concentration, Hypoparathyroidism, Alop... ORPHA:3453
Cataracts, Hearing Impairment, Nephrotic Syndrome, And Enterocolitis 1
Bone marrow hypocellularity, Hyperkeratosis, Decreased pineal volume, Enterocolitis OMIM:301108
Gamma-A-Globulin, Defect In Assembly Of
Decreased circulating IgA level OMIM:137050
Ichthyosis, Annular Epidermolytic, 1
Ichthyosis, Hyperparakeratosis, Abnormal hair morphology, Abnormality of the nail, Congenital bul... OMIM:607602
Bloom Syndrome
Malar rash, Decreased circulating IgA level, Decreased circulating IgG level, Type II diabetes me... OMIM:210900
Alstrom Syndrome
Hypertriglyceridemia, Decreased response to growth hormone stimulation test, Hyperinsulinemia, De... OMIM:203800
Ichthyosis With Alopecia, Eclabium, Ectropion, And Mental Retardation
Ichthyosis, Alopecia OMIM:242510
Neuropathy, Hereditary Sensory, Type If
Hyperkeratosis, Osteomyelitis OMIM:615632
Chronic Mucocutaneous Candidiasis
Cheilitis, Abnormality of the nail, Abnormal dental enamel morphology, Skin rash, Hyperkeratosis,... ORPHA:1334
Hereditary Mucoepithelial Dysplasia
Hyperkeratosis, Fine hair, Sparse hair, Alopecia ORPHA:1839
Donohue Syndrome
Nail dysplasia, Hyperinsulinemia, Acanthosis nigricans, Hyperkeratosis, Cholestasis, Precocious p... OMIM:246200
Primary Sjögren Syndrome
Increased circulating antibody level, Normochromic anemia, Optic neuritis, Biliary cirrhosis, Leu... ORPHA:289390
Linear Verrucous Nevus Syndrome
Hyperkeratosis, Sparse scalp hair, Hypophosphatemia ORPHA:2611
Growth Hormone Insensitivity Syndrome With Immune Dysregulation 2, Autosomal Dominant
Delayed puberty, Thyroiditis, Increased circulating IgE level, Eczematoid dermatitis, Decreased s... OMIM:618985
Scrub Typhus
Myocarditis, Lymphadenopathy, Skin rash, Splenomegaly, Anterior uveitis, Infectious encephalitis ORPHA:83317
Propionic Acidemia
Hepatomegaly, Anemia, Pancreatitis, Pancytopenia, Eczematoid dermatitis, Hyperammonemia, Thromboc... OMIM:606054
Granulomatous Slack Skin
Hypercalcemia, Abnormal lymph node morphology ORPHA:33111
Melioidosis
Lung abscess, Unusual skin infection, Pneumonia, Liver abscess, Prostatitis, Acute infectious pne... ORPHA:31202
Peeling Skin With Leukonychia, Acral Punctate Keratoses, Cheilitis, And Knuckle Pads
Leukonychia, Cheilitis, Hyperkeratosis, Angular cheilitis, Onycholysis, Punctate palmoplantar hyp... OMIM:616295
Bazex-Dupre-Christol Syndrome
Trichorrhexis nodosa, Trichoepithelioma, Atopic dermatitis, Eczematoid dermatitis, Sparse hair, P... OMIM:301845
Mandibuloacral Dysplasia With Type B Lipodystrophy
Decreased adipose tissue around neck, Hyperinsulinemia, Generalized lipodystrophy, Loss of trunca... OMIM:608612
Osteopetrosis, Autosomal Recessive 7
Hypocalcemic seizures, Anemia, Hepatomegaly, Decreased circulating IgG level, Recurrent pneumonia... OMIM:612301
Mandibuloacral Dysplasia With Type A Lipodystrophy
Calcinosis, Hyperinsulinemia, Hepatomegaly, Acanthosis nigricans, Onychogryposis, Increased facia... OMIM:248370
Acute Promyelocytic Leukemia
Anemia, Lymphadenopathy, Pancytopenia, Stomatitis, Leukocytosis, Leukopenia, Thrombocytopenia, Ne... ORPHA:520
Noonan Syndrome 8
Hyperkeratosis, Eczematoid dermatitis, Cryptorchidism, Curly hair OMIM:615355
Fish-Eye Disease
Splenomegaly, Hepatomegaly, Lymphadenopathy, Decreased HDL cholesterol concentration ORPHA:79292
Familial Papillary Thyroid Carcinoma With Renal Papillary Neoplasia
Abnormal lymph node morphology, Papillary thyroid carcinoma, Chronic noninfectious lymphadenopath... ORPHA:97290
Rhizomelic Chondrodysplasia Punctata
Sparse body hair, Ichthyosis, Alopecia ORPHA:177
Immunoglobulin A Deficiency 1
Decreased circulating IgA level OMIM:137100
Dowling-Degos Disease
Arthritis, Hyperkeratosis, Abnormal fingernail morphology, Hyperkeratotic papule, Pruritus, Acne ... ORPHA:79145
Menkes Disease
Alopecia, Decreased circulating ceruloplasmin concentration, Sparse hair, Brittle hair OMIM:309400
Icf Syndrome
Anemia, Decreased circulating antibody level, Lymphopenia, Umbilical hernia, Abnormality of neutr... ORPHA:2268
Cowden Syndrome 1
Palmoplantar hyperkeratosis, Thyroiditis, Decreased circulating antibody level, Subcutaneous lipo... OMIM:158350
Lig4 Syndrome
Acute leukemia, Hepatomegaly, Lymphadenopathy, Pancytopenia, Leukocytosis, Hypothyroidism, Low an... ORPHA:99812
Immunodeficiency 66
Recurrent skin infections, Pustule, Defective T cell proliferation OMIM:618847
Rat-Bite Fever
Morbilliform rash, Myocarditis, Anemia, Pancreatitis, Arthritis, Parotitis, Skin rash, Lymphadeni... ORPHA:31205
Satoyoshi Syndrome
Mildly elevated creatine kinase, Alopecia universalis, Alopecia OMIM:600705
Renpenning Syndrome
Decreased testicular size, Thin eyebrow, Diabetes mellitus, Abnormal hairshaft morphology, Alopecia ORPHA:3242
Pneumocystosis
Chronic oral candidiasis, Increased circulating antibody level, Abnormal neutrophil count, Acute ... ORPHA:723
Inflammatory Bowel Disease, Immunodeficiency, And Encephalopathy
Defective T cell proliferation, Perianal abscess, Increased circulating IgG level, Increased circ... OMIM:618213
Inflammatory Bowel Disease 28, Autosomal Recessive
Perianal abscess, Pyoderma, Crohn's disease, Folliculitis, Enterocolitis, Colitis OMIM:613148
Schimke Immunoosseous Dysplasia
Abnormal T cell morphology, Elevated circulating thyroid-stimulating hormone concentration, Anemi... OMIM:242900
Dyskeratosis Congenita, Autosomal Recessive 6
Bone marrow hypocellularity, Nail dystrophy, Sparse hair, Alopecia OMIM:616353
Cleft Lip/Palate-Ectodermal Dysplasia Syndrome
Aplasia/Hypoplasia of the eyebrow, Nail dystrophy, Dystrophic fingernails, Palmoplantar hyperkera... ORPHA:3253
Björnstad Syndrome
Alopecia, Hypogonadism, Brittle hair ORPHA:123
Sarcoidosis
Increased T cell count, Leukopenia, Erythema nodosum, Enlarged lacrimal glands, Diabetes insipidu... ORPHA:797
Alg12-Cdg
Partial absence of specific antibody response to Haemophilus influenzae type b (Hib) vaccine, Abn... ORPHA:79324
Lichen Planus Pemphigoides
Abnormality of the nail, Hyperkeratosis, Blepharitis, Conjunctivitis, Pruritus ORPHA:254478
Peeling Skin Syndrome 4
Nail dystrophy, Ichthyosis, Hyperkeratosis, Palmoplantar keratoderma, Orthokeratosis OMIM:607936
Congenital Muscular Dystrophy-Respiratory Failure-Skin Abnormalities-Joint Hyperlaxity Syndrome
Delayed puberty, Multiple joint contractures, Mildly elevated creatine kinase, Cryptorchidism, Fo... ORPHA:486815
Autosomal Recessive Palmoplantar Keratoderma And Congenital Alopecia
Alopecia totalis, Atypical scarring of skin, Nail dystrophy, Palmoplantar keratoderma ORPHA:1366
Hereditary Folate Malabsorption
Cheilitis, Pancytopenia, Megaloblastic anemia, Decreased circulating antibody level, Thrombocytop... ORPHA:90045
Combined Immunodeficiency Due To Crac Channel Dysfunction
Amelogenesis imperfecta, Chronic otitis media, Pneumonia, Hepatomegaly, Lymphadenopathy, Thromboc... ORPHA:169090
Say-Barber-Miller Syndrome
Abnormal T cell morphology, Panniculitis, Highly arched eyebrow, Decreased circulating antibody l... ORPHA:3132
Uncombable Hair Syndrome
Abnormal hair morphology, White hair, Patchy alopecia, Woolly hair, Trichodysplasia, Coarse hair ORPHA:1410
Erythrokeratodermia Variabilis Et Progressiva 3
Leukonychia, Hyperkeratosis, Palmoplantar keratoderma, Hypergranulosis, Orthokeratosis OMIM:617525
Harlequin Ichthyosis
Erythroderma, Congenital ichthyosiform erythroderma, Hyperkeratosis, Ichthyosis ORPHA:457
Autosomal Recessive Cerebellar Ataxia Due To Stub1 Deficiency
Pancreatitis, Delayed menarche, Hypothyroidism, Type II diabetes mellitus, Hypogonadism, Iridocyc... ORPHA:412057
American Trypanosomiasis
Myocarditis, Hepatomegaly, Lymphadenopathy, Skin rash, Splenomegaly, Infectious encephalitis ORPHA:3386
Generalized Pseudohypoaldosteronism Type 1
Hyperkalemia, Cholelithiasis, Recurrent tonsillitis, Atopic dermatitis, Glucocortocoid-insensitiv... ORPHA:171876
Pseudomyxoma Peritonei
Inflammation of the large intestine, Hernia, Lymphadenopathy, Abnormal peritoneum morphology ORPHA:26790
Periodic Fever, Familial, Autosomal Dominant
Hepatomegaly, Myositis, Skin rash, Erysipelas, Conjunctivitis, Hepatic amyloidosis, Cervical lymp... OMIM:142680
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome
Hypopigmentation of hair, Alopecia ORPHA:1067
Recessive X-Linked Ichthyosis
Hyperkeratosis, Cryptorchidism, Ichthyosis ORPHA:461
Mitochondrial Complex Iii Deficiency, Nuclear Type 10
Cholelithiasis, Normochromic anemia, Elevated circulating creatine kinase concentration, Thromboc... OMIM:618775
Orotic Aciduria
Hypochromia, Folate-unresponsive megaloblastic anemia, Pyrimidine-responsive megaloblastic anemia... OMIM:258900
Psoriasis 2
Hyperkeratosis, Psoriasiform dermatitis, Parakeratosis OMIM:602723
Sarcoidosis, Susceptibility To, 2
Hepatomegaly, Mediastinal lymphadenopathy, Bronchiectasis, Splenomegaly, Erythema nodosum, Uveitis OMIM:612387
Chanarin-Dorfman Syndrome
Hepatomegaly, Hepatic steatosis, Congenital nonbullous ichthyosiform erythroderma, Alopecia OMIM:275630
Bone Marrow Failure Syndrome 5
Nail dystrophy, Anemia, Erythroid hypoplasia, Decreased circulating antibody level, Pure red cell... OMIM:618165
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy
Intestinal lymphangiectasia, Anemia, Iron deficiency anemia, Hepatomegaly, Hypoproteinemia, Decre... OMIM:226300
Gaucher Disease, Perinatal Lethal
Hepatomegaly, Anemia, Ichthyosis, Hyperkeratosis, Congenital nonbullous ichthyosiform erythroderm... OMIM:608013
Isolated Anencephaly
Congenital diaphragmatic hernia, Maternal diabetes, Adrenal hypoplasia, Omphalocele, Thymus hyper... ORPHA:563609
Castleman Disease
Jaundice, Mediastinal lymphadenopathy, Lymphadenopathy, Anemia, Increased circulating interleukin... ORPHA:160
Lymphatic Malformation 4
Cellulitis, Hyperkeratosis, Toenail dysplasia, Hydrocele testis OMIM:615907
Eec Syndrome
Decreased response to growth hormone stimulation test, Nail dystrophy, Anterior hypopituitarism, ... ORPHA:1896
Odontoonychodermal Dysplasia
Nail dysplasia, Dystrophic fingernails, Thin nail, Ridged nail, Palmoplantar hyperkeratosis, Dyst... OMIM:257980
Niemann-Pick Disease, Type A
Sea-blue histiocytosis, Hepatomegaly, Lymphadenopathy, Bone-marrow foam cells, Prolonged neonatal... OMIM:257200
Inflammatory Skin And Bowel Disease, Neonatal, 1
Increased circulating IgE level, Blepharitis, Pustule, Erythroderma, Paronychia, Onychogryposis OMIM:614328
Hemosiderosis, Pulmonary, With Deficiency Of Gamma-A Globulin
Decreased circulating IgA level OMIM:235500
Irida Syndrome
Hyperkeratosis, Intrahepatic cholestasis, Decreased circulating copper concentration, Ichthyosis ORPHA:209981
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency
Anemia, Inguinal hernia, White hair, Lymphopenia, Agammaglobulinemia, Fine hair, Abnormality of t... ORPHA:935
Ane Syndrome
Delayed puberty, Lipoatrophy, Decreased response to growth hormone stimulation test, Reduced circ... ORPHA:157954
Hypomelanosis Of Ito
Alopecia OMIM:300337
Rapp-Hodgkin Syndrome
Nail dystrophy, Recurrent otitis media, Pili canaliculi, Decreased number of sweat glands, Small ... OMIM:129400
Hereditary Amyloidosis With Primary Renal Involvement
Decreased HDL cholesterol concentration, Hepatomegaly, Anemia, Abnormal lymph node morphology, Ly... ORPHA:85450
Cardiofaciocutaneous Syndrome 1
Ichthyosis, Slow-growing hair, Absent eyelashes, Hyperkeratosis, Low posterior hairline, Curly ha... OMIM:115150
Livedoid Vasculopathy
Abnormal circulating lipid concentration, Anemia, Pancytopenia, Hyperhomocystinemia, Atrophic sca... ORPHA:542643
Leopard Syndrome 3
Hyperkeratosis, Epidermal hyperkeratosis, Low posterior hairline, Curly hair OMIM:613707
Dyskeratosis Congenita, X-Linked
Premature graying of hair, Nail dystrophy, Cirrhosis, Anemia, Acute myeloid leukemia, Ridged nail... OMIM:305000
Bjornstad Syndrome
Hair shafts flattened at irregular intervals and twisted through 180 degrees about their axes, Dr... OMIM:262000
Leprosy
Abnormality of the adrenal glands, Iritis, Loss of eyelashes, Hyperkeratosis, Uveitis, Absent eye... ORPHA:548
Morgagni-Stewart-Morel Syndrome
Hyperuricemia, Abnormality of the endocrine system, Hirsutism, Hypothyroidism, Osteoarthritis, Ab... ORPHA:77296
Trichothiodystrophy
Panhypogammaglobulinemia, Ridged nail, Aplasia/Hypoplasia of the nails, Umbilical hernia, Concave... ORPHA:33364
Pachyonychia Congenita 2
Nail dysplasia, Nail dystrophy, Palmoplantar hyperkeratosis, Sparse scalp hair, Folliculitis, Ang... OMIM:167210
Congenital Erythropoietic Porphyria
Recurrent bacterial skin infections, Reticulocytosis, Unconjugated hyperbilirubinemia, Thickened ... ORPHA:79277
Terminal Osseous Dysplasia-Pigmentary Defects Syndrome
Flexion contracture, Camptodactyly, Alopecia ORPHA:88630
Brain Malformation-Congenital Heart Disease-Postaxial Polydactyly Syndrome
Nail dystrophy, Abnormality of the anterior pituitary, Brittle hair, Posterior pituitary hypoplas... ORPHA:75389
Zellweger-Like Syndrome Without Peroxisomal Anomalies
Alopecia, Hepatomegaly, Brittle hair ORPHA:50812
Primary Triglyceride Deposit Cardiomyovasculopathy
Hepatomegaly, Pancreatitis, Vacuolated lymphocytes, Hyperlipidemia, Elevated circulating creatine... ORPHA:565612
Immunodeficiency 33
Decreased circulating total IgM, Increased circulating IgA level OMIM:300636
Milroy Disease
Toenail dysplasia, Hyperkeratosis, Erysipelas, Cellulitis, Hydrocele testis ORPHA:79452
Mycetoma
Abnormality of the lymphatic system, Recurrent bacterial skin infections, Osteomyelitis, Cobblest... ORPHA:2583
Werner Syndrome
Premature graying of hair, Lipoatrophy, Thyroid carcinoma, Aplasia/Hypoplasia of the testes, Ovar... ORPHA:902
Idiopathic Hypereosinophilic Syndrome
Portal fibrosis, Splenomegaly, Cholangitis, Neutrophilia, Hepatosplenomegaly, Generalized lymphad... ORPHA:3260
Typhoid
Skin rash, Hepatomegaly, Splenomegaly, Infectious encephalitis ORPHA:99745
Acquired Purpura Fulminans
Skin rash, Thrombocytopenia, Elevated circulating C-reactive protein concentration ORPHA:49566
Bresek Syndrome
Decreased testicular size, Cryptorchidism, Ichthyosis, Alopecia ORPHA:85284
Macs Syndrome
Ichthyosis, Recurrent aphthous stomatitis, Hypergonadotropic hypogonadism, Sparse eyebrow, Sparse... OMIM:613075
Cold Agglutinin Disease
Splenomegaly, Hepatomegaly, Lymphadenopathy, Hemolytic anemia ORPHA:56425
Peroxisome Biogenesis Disorder 2A (Zellweger)
Jaundice, Hepatomegaly, Intrahepatic biliary dysgenesis, Elevated circulating long chain fatty ac... OMIM:214110
Cardiomyopathy, Dilated, With Woolly Hair And Keratoderma
Nail dystrophy, Woolly hair, Sparse eyelashes, Sparse eyebrow, Palmoplantar hyperkeratosis, Palmo... OMIM:605676
Aicardi-Goutieres Syndrome 7
Increased circulating ferritin concentration, Hepatomegaly, Anemia, Increased circulating antibod... OMIM:615846
Hennekam Syndrome
Lymphadenopathy, Hypocalcemia, Decreased circulating antibody level, Camptodactyly of finger, Ery... ORPHA:2136
Leigh Syndrome
Anemia, Alopecia, Hyperalaninemia, Eczematoid dermatitis, Frontal hirsutism, Multiple joint contr... ORPHA:506
Hyperimmunoglobulinemia D With Periodic Fever
Hepatomegaly, Recurrent aphthous stomatitis, Lymphadenopathy, Arthritis, Increased circulating Ig... ORPHA:343
Multiple Myeloma
Anemia, Lymphadenopathy, Increased circulating IgG level, Increased circulating IgA level, Decrea... ORPHA:29073
Rothmund-Thomson Syndrome Type 1
Aplastic anemia, Aplasia/Hypoplasia of the eyebrow, Calcinosis, Nail dysplasia, Anemia, Sparse or... ORPHA:221008
Costello Syndrome
Acanthosis nigricans, Abnormal hair morphology, Abnormal dental enamel morphology, Hyperkeratosis... ORPHA:3071
Erythema Elevatum Diutinum
Skin rash, Increased circulating antibody level ORPHA:90000
Acrokeratosis Verruciformis
Ridged nail, Hyperkeratosis, Acrokeratosis, Punctate palmoplantar hyperkeratosis, Acantholysis OMIM:101900
Riddle Syndrome
Arthritis, Chronic sinusitis, Decreased circulating IgG level, Recurrent sinusitis, Recurrent pne... ORPHA:420741
Congenital Disorder Of Glycosylation, Type Ia
Abnormal subcutaneous fat tissue distribution, Hepatomegaly, Hepatic fibrosis, Hypergonadotropic ... OMIM:212065
Marburg Hemorrhagic Fever
Increased circulating antibody level, Skin rash, Reticulocytosis, Hyperammonemia, Pericarditis, L... ORPHA:99826
Alveolar Echinococcosis
Abnormal adrenal morphology, Liver abscess, Anemia, Increased circulating antibody level, Cholang... ORPHA:284
Systemic Sclerosis
Myocarditis, Nail bed telangiectasia, Arthritis, Elevated circulating creatine kinase concentrati... ORPHA:90291
Oculocerebrocutaneous Syndrome
Cryptorchidism, Alopecia OMIM:164180
Naxos Disease
Nail dystrophy, Diffuse palmoplantar hyperkeratosis, Hyperkeratosis, Woolly hair, Curly hair, Ony... OMIM:601214
Desmoplastic Small Round Cell Tumor
Neoplasm of the pancreas, Anemia, Mediastinal lymphadenopathy, Lymphadenopathy, Ovarian neoplasm,... ORPHA:83469
Nijmegen Breakage Syndrome
Autoimmune hemolytic anemia, Dysgammaglobulinemia, Recurrent otitis media, B lymphocytopenia, T l... OMIM:251260
Pityriasis Rubra Pilaris
Parakeratosis, Subungual hyperkeratosis, Palmoplantar keratoderma, Hypergranulosis, Orthokeratosis OMIM:173200
Interstitial Granulomatous Dermatitis With Arthritis
Rheumatoid arthritis, Inflammatory abnormality of the skin, Pruritus, Elevated circulating C-reac... ORPHA:79099
Kury-Isidor Syndrome
Recurrent otitis media, Hypertrichosis, Alopecia OMIM:619762
Flynn-Aird Syndrome
Primary adrenal insufficiency, Type II diabetes mellitus, Abnormality of the thyroid gland, Alopecia ORPHA:2047
Kindler Epidermolysis Bullosa
Cheilitis, Anemia, Periodontitis, Abnormal dental enamel morphology, Hyperkeratosis, Esophagitis,... ORPHA:2908
Ichthyosis, Spastic Quadriplegia, And Impaired Intellectual Development
Ichthyosis, Inguinal hernia, Hyperkeratosis, Joint contracture, Congenital nonbullous ichthyosifo... OMIM:614457
Peeling Skin Syndrome 6
Parakeratosis, Orthokeratosis, Pruritus, Atopic dermatitis OMIM:618084
Amelo-Onycho-Hypohidrotic Syndrome
Abnormal dental enamel morphology, Hyperkeratosis, Onycholysis, Abnormal fingernail morphology, H... ORPHA:1028
Porokeratosis 3, Multiple Types
Nail dystrophy, Porokeratosis, Parakeratosis OMIM:175900
Ectodermal Dysplasia And Immunodeficiency 1
Dysgammaglobulinemia, Aplasia of the eccrine sweat glands, Increased circulating IgA level, Abnor... OMIM:300291
Cutaneous Telangiectasia And Cancer Syndrome, Familial
Nail dystrophy, Yellow nails, Ridged nail, Sparse lateral eyebrow, Enamel hypoplasia, Onycholysis... OMIM:614564
Alopecia-Contractures-Dwarfism-Intellectual Disability Syndrome
Ichthyosis, Abnormal dental enamel morphology, Hyperkeratosis, Abnormal toenail morphology, Spars... ORPHA:1005
Trichohepatoenteric Syndrome 1
Cholestasis, Splenomegaly, Sparse hair, Fine hair, Jaundice, Brittle hair, Decreased circulating ... OMIM:222470
Methylmalonic Aciduria And Homocystinuria, Cblf Type
Methylmalonic acidemia, Anemia, Hepatomegaly, Pancytopenia, Hyperhomocystinemia, Stomatitis, Mega... OMIM:277380
Brachydactyly-Short Stature-Retinitis Pigmentosa Syndrome
Ichthyosis, Inguinal hernia, Abnormality of the endocrine system, Small nail, Absent eyelashes, A... ORPHA:166035
Acrodermatitis Enteropathica
Cheilitis, Ridged nail, Abnormality of the nail, Blepharitis, Abnormal eyebrow morphology, Pustul... ORPHA:37
Lead Poisoning
Abnormal T cell morphology, Delayed puberty, Decreased HDL cholesterol concentration, Anemia, Inc... ORPHA:330015
Histiocytosis-Lymphadenopathy Plus Syndrome
Decreased response to growth hormone stimulation test, Alopecia of scalp, Flexion contracture of ... OMIM:602782
Thrombocytopenia 1
Decreased mean platelet volume, Increased circulating IgE level, Increased circulating IgA level,... OMIM:313900
Infantile Digital Fibromatosis
Hyperkeratosis, Parakeratosis ORPHA:199267
Mixed-Type Autoimmune Hemolytic Anemia
Autoimmune hemolytic anemia, Skin rash, Increased total bilirubin ORPHA:90036
Bethlem Muscular Dystrophy
Ankle flexion contracture, Hyperkeratosis, Elbow flexion contracture, Wrist flexion contracture, ... ORPHA:610
Ichthyosis, Congenital, Autosomal Recessive 8
Hyperkeratosis, Ichthyosis, Orthokeratosis, Hypergranulosis OMIM:613943
Ectodermal Dysplasia/Short Stature Syndrome
Nail dystrophy, Hyperkeratosis, Enamel hypoplasia, Anonychia, Palmoplantar keratoderma OMIM:616029
Lysinuric Protein Intolerance
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Increased circulating antibody lev... ORPHA:470
Subcorneal Pustular Dermatosis
Increased circulating antibody level, Hypothyroidism, Rheumatoid arthritis, Pustule, Hyperthyroid... ORPHA:48377
Mutilating Palmoplantar Keratoderma With Periorificial Keratotic Plaques
Thickened skin, Abnormal fingernail morphology, Sparse hair, Palmoplantar keratoderma, Alopecia ORPHA:659
Cardiofaciocutaneous Syndrome 3
Hyperkeratosis, Curly hair OMIM:615279
Hypergonadotropic Hypogonadism And Partial Alopecia
Alopecia, Streak ovary, Hypergonadotropic hypogonadism OMIM:241090
Dermatomyositis
Myocarditis, Myositis, Abnormal eosinophil morphology, Abnormal hair quantity, Skin rash, Arthrit... ORPHA:221
Acute Interstitial Pneumonia
Reduced hematocrit, Lymphadenopathy, Elevated circulating C-reactive protein concentration, Bronc... ORPHA:79126
Peeling Skin Syndrome 5
Hyperkeratosis OMIM:617115
Microsporidiosis
Adrenocortical abnormality, Sinusitis, Biliary tract abnormality, Myocarditis, Cholangitis, Thyro... ORPHA:2552
Methylmalonic Acidemia With Homocystinuria Type Cblf
Hyperhomocystinemia, Stomatitis, Megaloblastic anemia, Elevated circulating palmitoleylcarnitine ... ORPHA:79284
Hypotrichosis-Lymphedema-Telangiectasia Syndrome
Abnormal sweat gland morphology, Abnormality of the nail, Alopecia, Absent eyelashes, Sparse scal... OMIM:607823
Keutel Syndrome
Recurrent sinusitis, Recurrent otitis media, Alopecia ORPHA:85202
3-Methylcrotonyl-Coa Carboxylase 2 Deficiency
Decreased circulating carnitine concentration, Seborrheic dermatitis, Hyperleucinemia, Hyperammon... OMIM:210210
Palmoplantar Carcinoma, Multiple Self-Healing
Nail dystrophy, Parakeratosis, Chronic rhinitis, Palmoplantar keratoderma, Follicular hyperkeratosis OMIM:615225
Schimke Immuno-Osseous Dysplasia
Anemia, Abnormal proportion of naive CD4 T cells, Recurrent infections, Abnormal lymphocyte physi... ORPHA:1830
Juvenile Dermatomyositis
Calcinosis, Elevated circulating C-reactive protein concentration, Myositis, Arthritis, Skin rash... ORPHA:93672
Diabetes, Deafness, Developmental Delay, And Short Stature Syndrome
Decreased thyroid-stimulating hormone level, Decreased circulating follicle stimulating hormone c... OMIM:620651
Hypocalcemic Vitamin D-Resistant Rickets
Abnormal adipose tissue morphology, Hypocalcemia, Hypophosphatemia, Hyperparathyroidism, Alopecia ORPHA:93160
Blue Rubber Bleb Nevus
Skin rash, Microcytic anemia ORPHA:1059
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency
Hypertriglyceridemia, Abnormal circulating lipid concentration, Decreased HDL cholesterol concent... ORPHA:247598
Abnormal Hair, Joint Laxity, And Developmental Delay
Trichorrhexis nodosa, Recurrent otitis media, Small nail, Sparse lateral eyebrow, Fragile nails, ... OMIM:261990
Polyendocrine-Polyneuropathy Syndrome
Decreased circulating follicle stimulating hormone concentration, Decreased circulating luteinizi... ORPHA:453533
Adams-Oliver Syndrome 2
Small nail, Low anterior hairline, Alopecia OMIM:614219
Dubowitz Syndrome
Aplastic anemia, Inguinal hernia, Sparse scalp hair, Eczematoid dermatitis, Sparse lateral eyebro... OMIM:223370
Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects
Parakeratosis, Small nail, Hyperkeratosis, Adrenal hypoplasia, Thyroid hypoplasia, Flexion contra... OMIM:308050
Hyperkeratosis Lenticularis Perstans
Hyperkeratosis lenticularis perstans, Pruritus ORPHA:409
Rothmund-Thomson Syndrome Type 2
Aplastic anemia, Nail dysplasia, Calcinosis, Anemia, Sparse or absent eyelashes, Abnormal dental ... ORPHA:221016
Myotonic Dystrophy 2
Frontal balding, Elevated circulating creatine kinase concentration, Decreased circulating IgG le... OMIM:602668
Waldenström Macroglobulinemia
Normocytic anemia, Hepatomegaly, Lymphadenopathy, Cryoglobulinemia, Splenomegaly, Monoclonal immu... ORPHA:33226
Kawasaki Disease
Abnormality of nail color, Myocarditis, Cheilitis, Jaundice, Elevated circulating C-reactive prot... ORPHA:2331
Cancer, Alopecia, Pigment Dyscrasia, Onychodystrophy, And Keratoderma
Alopecia of scalp, Nail dystrophy, Multinodular goiter, Palmoplantar keratoderma, Alopecia OMIM:618373
Alpha-N-Acetylgalactosaminidase Deficiency Type 1
Hyperkeratosis, Hepatomegaly ORPHA:79279
Rheumatoid Factor-Negative Polyarticular Juvenile Idiopathic Arthritis
Anemia, Lymphadenopathy, Hip osteoarthritis, Knee osteoarthritis, Arthritis, Synovitis, Hepatospl... ORPHA:85408
Monosomy 18P
Hypothyroidism, Low posterior hairline, Alopecia ORPHA:1598
Adrenoleukodystrophy
Primary adrenal insufficiency, Elevated circulating long chain fatty acid concentration, Hypogona... OMIM:300100
Maternal Uniparental Disomy Of Chromosome 6
Increased serum testosterone level, Inguinal hernia, Eczematoid dermatitis, Hydrocele testis, Thr... ORPHA:96181
Giant Cell Arteritis
Mediastinal lymphadenopathy, Diabetes insipidus, Arthritis, Pericarditis, Alopecia ORPHA:397
Congenital Syphilis
Myocarditis, Anemia, Lymphadenopathy, Pancreatitis, Synovitis, Prolonged neonatal jaundice, Rhini... ORPHA:499009
Igg4-Related Ophthalmic Disease
Enlarged lacrimal glands, Prostatitis, Abnormality of the anterior pituitary, Lymphadenopathy, El... ORPHA:449563
Dermatitis Herpetiformis
Eczematoid dermatitis, Abnormality of the thyroid gland, Dental enamel pits, Microcytic anemia, P... ORPHA:1656
Subacute Cutaneous Lupus Erythematosus
Malar rash, Cheilitis, Discoid lupus rash, Hyperkeratosis ORPHA:163525
Ectodermal Dysplasia-Blindness Syndrome
Hyperkeratosis, Abnormal fingernail morphology, Sparse hair, Fine hair, Keratoconjunctivitis sicca ORPHA:1806
Hereditary Sensory And Autonomic Neuropathy Type 1
Hyperkeratosis, Osteomyelitis ORPHA:36386
Listeriosis
Pericarditis, Pustule, Cholecystitis, Granulomatosis, Myocarditis, Jaundice, Splenic abscess, Con... ORPHA:533
Johnson Neuroectodermal Syndrome
Absent eyelashes, Absent eyebrow, Hypogonadism, Sparse hair, Alopecia ORPHA:2316
Lujo Hemorrhagic Fever
Myocarditis, Elevated circulating C-reactive protein concentration, Skin rash, Fulminant hepatiti... ORPHA:319213
Hermansky-Pudlak Syndrome
Hypopigmentation of hair, Abnormal dental enamel morphology, Hyperkeratosis, Long eyelashes, Thic... ORPHA:79430
Digeorge Syndrome
Seborrheic dermatitis, Recurrent sinusitis, Ovarian cyst, Splenomegaly, Abnormal thymus morpholog... OMIM:188400
Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome
Delayed puberty, Absence of secondary sex characteristics, Breast hypoplasia, Increased circulati... ORPHA:2232
X-Linked Dominant Chondrodysplasia Punctata
Ichthyosis, Scarring alopecia of scalp, Abnormality of the nail, Patchy alopecia, Sparse eyelashe... ORPHA:35173
Crimean-Congo Hemorrhagic Fever
Inappropriate antidiuretic hormone secretion, Leukopenia, Splenomegaly, Erythema nodosum, Cholecy... ORPHA:99827
Gomez-Lopez-Hernandez Syndrome
Decreased response to growth hormone stimulation test, Alopecia OMIM:601853
Infantile Cataract, Skin Abnormalities, Glutamate Excess, And Impaired Intellectual Development
Hyperkeratosis, Parakeratosis OMIM:618339
Xq28 (MECP2) duplication
Decreased circulating IgA level DECIPHER:45
Congenital Disorder Of Glycosylation, Type If
Erythroderma, Hyperkeratosis, Flexion contracture OMIM:609180
Cardiofaciocutaneous Syndrome
Dystrophic fingernails, Ichthyosis, Sparse or absent eyelashes, Brittle hair, Slow-growing hair, ... ORPHA:1340
Distal Deletion 19P
Decreased circulating antibody level, Vaginal hernia, Thick eyebrow, Umbilical hernia, Keloids, A... ORPHA:96129
Phoar2-Enteropathy Syndrome
Thickened skin, Hypoalbuminemia, Seborrheic dermatitis, Acne OMIM:614441
Gjc2-Related Late-Onset Primary Lymphedema
Cellulitis, Abnormal lymphatic vessel morphology, Recurrent skin infections, Hypoplasia of lympha... ORPHA:568051
Frontonasal Dysplasia-Alopecia-Genital Anomalies Syndrome
Fine hair, Cryptorchidism, Hypogonadism, Alopecia ORPHA:228390
Zygomycosis
Acute infectious pneumonia, Sinusitis, Pericarditis, Pustule, Cellulitis, Neutropenia, Myocarditi... ORPHA:73263
Seborrhea-Like Dermatitis With Psoriasiform Elements
Seborrheic dermatitis, Hyperkeratosis OMIM:610227
Schimmelpenning-Feuerstein-Mims Syndrome
Precocious puberty, Hypophosphatemic rickets, Ichthyosis, Alopecia OMIM:163200
Thyroid Lymphoma
Lymphadenopathy, Hypothyroidism, Hashimoto thyroiditis, Hyperthyroidism, Goiter ORPHA:97285
Lmna-Related Cardiocutaneous Progeria Syndrome
Premature graying of hair, Lipoatrophy, Hypertriglyceridemia, Absent eyelashes, Absent eyebrow, P... ORPHA:363618
Müllerian Aplasia And Hyperandrogenism
High anterior hairline, Frontal balding, Increased serum testosterone level, Facial hirsutism, Hi... ORPHA:247768
Melkersson-Rosenthal Syndrome
Cheilitis, Inflammatory abnormality of the skin, Lymphadenopathy ORPHA:2483
Reactive Arthritis
Dystrophic fingernails, Recurrent aphthous stomatitis, Abnormality of the nail, Arthritis, Hyperk... ORPHA:29207
Uremic Pruritus
Abnormal circulating cytokine concentration, Hypermagnesemia, Increased blood urea nitrogen, Hype... ORPHA:94059
Ichthyosis, Congenital, Autosomal Recessive 3
Palmoplantar keratoderma, Hyperkeratosis, Ichthyosis, Congenital nonbullous ichthyosiform erythro... OMIM:606545
Ectodermal Dysplasia-Skin Fragility Syndrome
Scarring, Nail dystrophy, Cheilitis, Recurrent pneumonia, Recurrent skin infections, Sparse hair,... ORPHA:158668
Noonan Syndrome-Like Disorder With Loose Anagen Hair 1
Loose anagen hair, Ichthyosis, Inguinal hernia, Hyperkeratosis, Sparse scalp hair, Curly hair, Lo... OMIM:607721
Biotinidase Deficiency
Skin rash, Eczematoid dermatitis, Hyperammonemia, Conjunctivitis, Alopecia ORPHA:79241
Short Syndrome
Inguinal hernia, Abnormal dental enamel morphology, Lipodystrophy, Sparse hair, Diabetes mellitus... ORPHA:3163
Familial Mediterranean Fever
Pancreatitis, Lymphadenopathy, Arthritis, Skin rash, Leukocytosis, Pericarditis, Erysipelas, Orch... ORPHA:342
Igg4-Related Dacryoadenitis And Sialadenitis
Enlarged lacrimal glands, Abnormal salivary gland morphology, Lymphadenopathy, Myositis, Thyroidi... ORPHA:79078
Leukocyte Adhesion Deficiency
Perianal abscess, Nail dystrophy, Severe periodontitis, Impaired platelet aggregation, Sinusitis,... ORPHA:2968
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Intermediate Form
Delayed puberty, Nail dysplasia, Anemia, Decreased circulating carnitine concentration, Atypical ... ORPHA:89842
Global Developmental Delay-Alopecia-Macrocephaly-Facial Dysmorphism-Structural Brain Anomalies Syndrome
Inguinal hernia, Small nail, Absent eyelashes, Sparse scalp hair, Bilateral cryptorchidism, Absen... ORPHA:544488
Postinfectious Vasculitis
Gastrointestinal inflammation, Increased circulating antibody level, Elevated circulating C-react... ORPHA:48435
Autosomal Dominant Hypocalcemia
Hypocalcemia, Abnormality of the nail, Eczematoid dermatitis, Abnormal fingernail morphology, Hyp... ORPHA:428
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome
Cheilitis, Hyperconvex fingernails, Sparse hair, Thin fingernail, Inguinal hernia, Abnormal hair ... ORPHA:2273
Acitretin/Etretinate Embryopathy
Hypoplasia of the thymus ORPHA:40366
Hereditary Orotic Aciduria
Recurrent respiratory infections, Anemia, Splenomegaly, Impaired T cell function ORPHA:30
Muscular Dystrophy, Congenital, Davignon-Chauveau Type
Joint contracture, Follicular hyperkeratosis OMIM:617066
Mandibuloacral Dysplasia With Type B Lipodystrophy
Delayed puberty, Calcinosis, Nail dystrophy, Generalized lipodystrophy, Abnormal hair morphology,... ORPHA:90154
Pachyonychia Congenita 1
Nail dystrophy, Palmoplantar hyperkeratosis, Follicular hyperkeratosis, Onychogryposis OMIM:167200
Palmoplantar Hyperkeratosis With Squamous Cell Carcinoma Of Skin And 46,Xx Sex Reversal
Hypertriglyceridemia, Nail dystrophy, Small nail, Sclerodactyly, Decreased testicular size, Ortho... OMIM:610644
Severe Generalized Junctional Epidermolysis Bullosa
Gastrointestinal inflammation, Nail dystrophy, Pneumonia, Anemia, Pyoderma, Abnormality of the na... ORPHA:79404
Epidermolysis Bullosa, Lethal Acantholytic
Absent fingernail, Anonychia, Alopecia totalis, Alopecia universalis, Acantholysis OMIM:609638
Chondrodysplasia Punctata 2, X-Linked Dominant
Congenital ichthyosiform erythroderma, Patchy alopecia, Sparse eyelashes, Sparse eyebrow, Congeni... OMIM:302960
Complete Androgen Insensitivity Syndrome
Delayed puberty, Increased circulating antimullerian hormone concentration, Abnormal circulating ... ORPHA:99429
Spondyloepimetaphyseal Dysplasia, Krakow Type
Decreased serum insulin-like growth factor 1, Annular pancreas, Eczematoid dermatitis, Knee flexi... OMIM:618162
Blau Syndrome
Abnormal salivary gland morphology, Anemia, Lymphadenopathy, Ichthyosis, Skin rash, Posterior uve... ORPHA:90340
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies
Azotemia, Hypoplasia of the ovary, Leukocytosis, Decreased testicular size, Flexion contracture, ... OMIM:619321
Arthrogryposis And Ectodermal Dysplasia
Nail dysplasia, Trichiasis, Abnormal dental enamel morphology, Hyperkeratosis, Camptodactyly, Abs... OMIM:601701
Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor
Elevated circulating parathyroid hormone level, Alopecia OMIM:600785
Congenital Disorder Of Glycosylation, Type Ig
Hypocalcemia, Decreased circulating IgG level, Recurrent pneumonia, Decreased circulating total I... OMIM:607143
Relapsing Polychondritis
Myocarditis, Recurrent aphthous stomatitis, Inflammatory abnormality of the eye, Arthritis, Uveit... ORPHA:728
Sarcoidosis, Susceptibility To, 1
Enlarged lacrimal glands, Abnormal salivary gland morphology, Mediastinal lymphadenopathy, Increa... OMIM:181000
Mandibulofacial Dysostosis With Alopecia
Sparse eyelashes, Alopecia OMIM:616367
Trichorhinophalangeal Syndrome, Type Iii
Sparse lateral eyebrow, Fine hair, Epidermal hyperkeratosis, Sparse hair OMIM:190351
Proteus-Like Syndrome
Shagreen patch, Splenomegaly, Thymus hyperplasia, Subcutaneous lipoma, Polycystic ovaries, Abnorm... ORPHA:2969
Atypical Werner Syndrome
Delayed puberty, Hypertriglyceridemia, Premature graying of hair, Lipoatrophy, White forelock, Hy... ORPHA:79474
Deafness-Genital Anomalies-Metacarpal And Metatarsal Synostosis Syndrome
Supernumerary nipple, Alopecia ORPHA:3224
Rift Valley Fever
Jaundice, Anemia, Increased circulating IgG level, Skin rash, Increased circulating IgM level, Th... ORPHA:319251
Psoriasis-Related Juvenile Idiopathic Arthritis
Iritis, Malar rash, Skin rash, Oligoarthritis, Onycholysis, Sacroiliac arthritis, Nail pits, Enth... ORPHA:85436
Macrocephaly-Intellectual Disability-Neurodevelopmental Disorder-Small Thorax Syndrome
Cryptorchidism, Decreased circulating IgA level, Curly hair ORPHA:457485
Cushing Syndrome Due To Ectopic Acth Secretion
Pheochromocytoma, Adrenal hyperplasia, Pulmonary carcinoid tumor, Lymphopenia, Medullary thyroid ... ORPHA:99889
Rasmussen Subacute Encephalitis
Decreased circulating total IgA ORPHA:1929
Hallermann-Streiff Syndrome
Abnormality of hair texture, Uveitis, Hypothyroidism, Sparse eyelashes, Sparse body hair, Sparse ... ORPHA:2108
Ichthyotic Keratoderma, Spasticity, Hypomyelination, And Dysmorphic Facial Features
Hyperkeratosis, Ichthyosis, Acanthosis nigricans, Parakeratosis OMIM:618527
Adult Syndrome
Breast hypoplasia, Toenail dysplasia, Abnormality of the nail, Hypoplastic nipples, Absent nipple... ORPHA:978
Congenital Disorder Of Glycosylation, Type Iib
Hepatomegaly, Decreased circulating antibody level, Decreased circulating IgA level, Long eyelashes OMIM:606056
Ichthyosis, Annular Epidermolytic, 2
Palmoplantar keratoderma, Ichthyosis, Orthokeratosis, Palmoplantar hyperkeratosis OMIM:620148
Vitamin D-Dependent Rickets, Type 2A
Elevated circulating parathyroid hormone level, Hypocalcemic seizures, Enamel hypoplasia, Hypopho... OMIM:277440
Fucosidosis
Lipoatrophy, Abnormality of the gallbladder, Hepatomegaly, Generalized hyperkeratosis, Abnormalit... ORPHA:349
Glucagonoma
Neoplasm of the pancreas, Normochromic anemia, Skin rash, Pituitary adenoma, Parathyroid adenoma,... ORPHA:97280
Spinocerebellar Ataxia 34
Erythroderma, Epidermal hyperkeratosis OMIM:133190
Epidermolysis Bullosa Simplex With Muscular Dystrophy
Hyperconvex fingernails, Abnormal dental enamel morphology, Hypoplastic fingernail, Alopecia ORPHA:257
Ifap Syndrome 1, With Or Without Bresheck Syndrome
Nail dysplasia, Nail dystrophy, Ichthyosis follicularis, Periungual erythema, Umbilical hernia, I... OMIM:308205
Classical-Like Ehlers-Danlos Syndrome Type 2
Hypertriglyceridemia, Ventral hernia, Inguinal hernia, Periodontitis, Cryptorchidism, Widened atr... ORPHA:536532
Porokeratosis 7, Multiple Types
Parakeratosis, Porokeratosis OMIM:614714
Porokeratosis 1, Multiple Types
Parakeratosis, Porokeratosis OMIM:175800
Lymphatic Malformation 12
Hyperkeratosis, Inguinal hernia, Hydrocele testis OMIM:620014
Hemihyperplasia-Multiple Lipomatosis Syndrome
Lipoatrophy, Hyperparakeratosis, Seborrheic dermatitis, Abnormality of the lymphatic system, Ovar... ORPHA:276280
Premature Aging Syndrome, Penttinen Type
Elevated circulating thyroid-stimulating hormone concentration, Lipoatrophy, Hyperkeratosis, Thic... OMIM:601812
Oculocerebrocutaneous Syndrome
Congenital diaphragmatic hernia, Abnormal fingernail morphology, Cryptorchidism, Alopecia ORPHA:1647
Neuroblastoma
Anemia, Lymphadenopathy, Thrombocytopenia, Elevated circulating catecholamine level, Increased ci... ORPHA:635
Inflammatory Bowel Disease 25, Autosomal Recessive
Pancolitis, Perianal abscess, Folliculitis, Enterocolitis OMIM:612567
Reynolds Syndrome
Cirrhosis, Jaundice, Keratoconjunctivitis sicca, Hepatomegaly, Arthritis, Skin rash, Sclerodactyl... ORPHA:779
Gapo Syndrome
Sparse eyelashes, Sparse eyebrow, Hypogonadism, Umbilical hernia, Early balding, Alopecia ORPHA:2067
Chronic Graft Versus Host Disease
Nail dystrophy, Morphea, Keratoconjunctivitis sicca, Pancytopenia, Arthritis, Thickened skin, Ony... ORPHA:99921
Tangier Disease
Hypertriglyceridemia, Nail dystrophy, Anemia, Chronic noninfectious lymphadenopathy, Orange disco... ORPHA:31150
Ullrich Congenital Muscular Dystrophy 1A
Mildly elevated creatine kinase, Flexion contracture, Follicular hyperkeratosis OMIM:254090
Pachyonychia Congenita 3
Nail dystrophy, Palmoplantar keratoderma, Onychogryposis of toenails, Plantar hyperkeratosis, Pal... OMIM:615726
Leprechaunism
Hyperinsulinemia, Hepatomegaly, Acanthosis nigricans, Hypokalemia, Hyperkeratosis, Increased circ... ORPHA:508
Yao Syndrome
Arthritis, Skin rash, Pericarditis, Inflammatory abnormality of the skin, Keratoconjunctivitis si... OMIM:617321
Rothmund-Thomson Syndrome, Type 2
Premature graying of hair, Annular pancreas, Nail dystrophy, Absent eyelashes, Sparse scalp hair,... OMIM:268400
Satoyoshi Syndrome
Sparse or absent eyelashes, Abnormal hair morphology, Hypoplasia of the ovary, Abnormality of the... ORPHA:3130
22Q11.2 Deletion Syndrome
Chronic otitis media, Acne, Hypoparathyroidism, Cholelithiasis, Inguinal hernia, Hypocalcemia, Ab... ORPHA:567
Lymphoid Interstitial Pneumonia
Hepatomegaly, Mediastinal lymphadenopathy, Abnormality of connective tissue, Skin rash, Eczematoi... ORPHA:79128
Malt Lymphoma
Anemia, Mediastinal lymphadenopathy, Lymphadenopathy, Posterior uveitis, Abnormality of the thyro... ORPHA:52417
Cutis Laxa, Autosomal Recessive, Type Ic
Inguinal hernia, Accessory spleen, Morgagni diaphragmatic hernia, Adrenal hypoplasia, Hypoplasia ... OMIM:613177
Palmoplantar Keratoderma, Punctate Type Ia
Punctate palmoplantar hyperkeratosis, Hypergranulosis, Orthokeratosis OMIM:148600
Oculocutaneous Albinism Type 1A
Thickened skin, Hyperkeratosis, Albinism, Hypopigmentation of hair ORPHA:79431
Hutchinson-Gilford Progeria Syndrome
Absence of subcutaneous fat, Alopecia OMIM:176670
Pulmonary Non-Tuberculous Mycobacterial Infection
Bronchiectasis, Lymphadenopathy ORPHA:411703
Mandibuloacral Dysplasia With Type A Lipodystrophy
Breast aplasia, Absent eyelashes, Hyperlipidemia, Abnormal eyebrow morphology, Flexion contractur... ORPHA:90153
Estrogen Resistance
Delayed puberty, Increased circulating osteocalcin level, Hyperinsulinemia, Acanthosis nigricans,... OMIM:615363
African Trypanosomiasis
Abnormality of renin-angiotensin system, Myocarditis, Iritis, Jaundice, Lymphadenopathy, Myelitis... ORPHA:3385
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2
Hypertriglyceridemia, Cholestatic liver disease, Cirrhosis, Hepatomegaly, Anemia, Lymphadenopathy... OMIM:619418
Localized Scleroderma
Arthritis, Patchy alopecia, Esophagitis, Thickened skin, Hashimoto thyroiditis, Flexion contractu... ORPHA:90289
Wiedemann-Rautenstrauch Syndrome
Hypertriglyceridemia, Lipoatrophy, Alopecia of scalp, Increased serum testosterone level, Broad e... OMIM:264090
Chime Syndrome
Acute leukemia, Ichthyosis, Hyperkeratosis, Sparse hair, Fine hair ORPHA:3474
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Jaundice, Hepatomegaly, Hypocalcemia, Hypoproteinemia, Elevated circulating creatine kinase conce... ORPHA:26793
Liver Disease, Severe Congenital
Nail dystrophy, Lymphocytosis, Hypoproteinemia, Biliary hyperplasia, Hyperammonemia, Leukopenia, ... OMIM:619991
Lethal Congenital Contracture Syndrome 10
Hypoplasia of the thymus, Omphalocele OMIM:617022
Complement Factor I Deficiency
Decreased circulating complement C3 concentration, Recurrent otitis media, Decreased circulating ... OMIM:610984
Farber Disease
Anemia, Lymphadenopathy, Arthritis, Intrahepatic cholestasis with episodic jaundice, Thrombocytop... ORPHA:333
Gapo Syndrome
Nail dysplasia, Breast hypoplasia, Hepatomegaly, Hypoplastic nipples, Sparse eyelashes, Sparse ey... OMIM:230740
Estrogen Resistance Syndrome
Absence of secondary sex characteristics, Breast hypoplasia, Hyperinsulinemia, Acanthosis nigrica... ORPHA:785
Cushing Disease
Recurrent cutaneous fungal infections, Acne, Decreased eosinophil count, Increased urinary cortis... ORPHA:96253
Nestor-Guillermo Progeria Syndrome
Lipoatrophy, Nail dystrophy, Decreased serum leptin, Sparse scalp hair, Sparse eyelashes, Sparse ... OMIM:614008
Epidermolysis Bullosa Simplex With Circinate Migratory Erythema
Parakeratosis, Pruritus ORPHA:158681
Medullary Thyroid Carcinoma
Abnormal liver parenchyma morphology, Lymphadenopathy, Pheochromocytoma, Primary hyperparathyroid... ORPHA:1332
Bartsocas-Papas Syndrome
Alopecia totalis, Hypoplastic toenails, Sparse or absent eyelashes, Aplasia/Hypoplasia of the eye... ORPHA:1234
Cerebral Arteriopathy, Autosomal Recessive, With Subcortical Infarcts And Leukoencephalopathy
Alopecia OMIM:600142
Encephalocraniocutaneous Lipomatosis
Lipoma, Multiple central nervous system lipomas, Subcutaneous lipoma, Cryptorchidism, Alopecia OMIM:613001
Malakoplakia
Skin rash, Inflammatory abnormality of the skin, Orchitis, Pruritus, Follicular hyperplasia, Urin... ORPHA:556
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 3
Central diabetes insipidus, Decreased response to growth hormone stimulation test, Absence of Ste... OMIM:604292
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1
Nail dysplasia, Central diabetes insipidus, Decreased response to growth hormone stimulation test... OMIM:129900
Noonan Syndrome 2
Hyperkeratosis, Low posterior hairline, Curly hair, Arthrogryposis multiplex congenita, Acute lym... OMIM:605275
Punctate Palmoplantar Keratoderma Type 1
Nail dystrophy, Palmoplantar hyperkeratosis, Hyperkeratotic papule, Pancreatic adenocarcinoma, Pa... ORPHA:79501
Autosomal Recessive Malignant Osteopetrosis
Hepatomegaly, Anemia, Lymphadenopathy, Hypocalcemia, Abnormality of hair texture, Chronic rhiniti... ORPHA:667
Hyperpigmentation With Or Without Hypopigmentation, Familial Progressive
Hyperkeratosis OMIM:145250
Hyperzincemia With Functional Zinc Depletion
Skin rash, Hepatomegaly, Increased serum zinc OMIM:601979
Tylosis With Esophageal Cancer
Parakeratosis, Follicular hyperkeratosis, Diffuse palmoplantar hyperkeratosis OMIM:148500
Anaplastic Thyroid Carcinoma
Anaplastic thyroid carcinoma, Goiter, Nodular goiter, Lymphadenopathy ORPHA:142
Yellow Fever
Jaundice, Increased circulating interleukin 6 concentration, Hyperbilirubinemia, Skin rash, Acute... ORPHA:99829
Lethal Acantholytic Erosive Disorder
Absent hair, Absent eyelashes, Absent fingernail, Absent eyebrow, Camptodactyly of toe, Absent to... ORPHA:158687
Pemphigus Foliaceus
Pustule, Erythroderma, Acantholysis, Psoriasiform dermatitis, Crusting erythematous dermatitis, P... ORPHA:79481
Fibrodysplasia Ossificans Progressiva
Alopecia OMIM:135100
Familial Pancreatic Carcinoma
Jaundice, Lymphadenopathy, Peritoneal abscess, Neoplasm of the liver, Hepatosplenomegaly, Exocrin... ORPHA:1333
Behçet Disease
Acne, Pancreatitis, Lymphadenopathy, Recurrent aphthous stomatitis, Myositis, Optic neuritis, Art... ORPHA:117
Limb-Mammary Syndrome
Nail dysplasia, Chronic irritative conjunctivitis, Breast aplasia, Alopecia, Hypoplastic nipples,... ORPHA:69085
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate
Hyperconvex nail, Nail dystrophy, Absent eyelashes, Patchy alopecia, Sparse eyelashes, Blephariti... OMIM:106260
Xeroderma Pigmentosum
Hyperkeratosis, Decreased testicular size, Blepharitis, Thickened skin, Keratitis, Hypogonadism, ... ORPHA:910
Acrodermatitis Enteropathica, Zinc-Deficiency Type
Recurrent candida infections, Splenomegaly, Impaired T cell function OMIM:201100
Epilepsy-Telangiectasia Syndrome
Decreased circulating antibody level, Decreased circulating IgA level ORPHA:1951
Leptospirosis
Jaundice, Hepatomegaly, Lymphadenopathy, Optic neuritis, Skin rash, Pericarditis, Thrombocytopeni... ORPHA:509
Koolen-De Vries Syndrome Due To A Point Mutation
Decreased response to growth hormone stimulation test, Recurrent otitis media, Ichthyosis, Testic... ORPHA:363965
17Q21.31 Microdeletion Syndrome
Decreased response to growth hormone stimulation test, Recurrent otitis media, Ichthyosis, Testic... ORPHA:363958
Frontonasal Dysplasia 2
Bilateral cryptorchidism, Sparse eyelashes, Sparse eyebrow, Sparse hair, Alopecia totalis, Fine hair OMIM:613451
Fabry Disease
Delayed puberty, Abnormal circulating lipid concentration, Anemia, Diabetes insipidus, Arthritis,... ORPHA:324
Chikungunya
Lymphadenopathy, Arthritis, Skin rash, Synovitis, Crusting erythematous dermatitis, Enthesitis, P... ORPHA:324625
Infection-Related Hemolytic Uremic Syndrome
Increased circulating interleukin 6 concentration, Leukocytosis, Severe viral infection, Abnormal... ORPHA:544482
Focal Dermal Hypoplasia
Congenital diaphragmatic hernia, Inguinal hernia, Abnormal adipose tissue morphology, Abnormality... ORPHA:2092
Granulomatosis With Polyangiitis
Chronic otitis media, Prostatitis, Pancreatitis, Elevated circulating C-reactive protein concentr... ORPHA:900
Adult Syndrome
Breast hypoplasia, Alopecia of scalp, Hypoplastic nipples, Absent nipple, Sparse scalp hair, Ecze... OMIM:103285
Familial Tumoral Calcinosis
Skin rash, Hepatomegaly, Splenomegaly ORPHA:53715
Woodhouse-Sakati Syndrome
Elevated circulating thyroid-stimulating hormone concentration, Alopecia, Hyperlipidemia, Hypergo... OMIM:241080
Treacher-Collins Syndrome
Abnormality of the adrenal glands, Abnormal hair morphology, Abnormal dental enamel morphology, A... ORPHA:861
Igg4-Related Retroperitoneal Fibrosis
Normocytic anemia, Deep dermal perivascular inflammatory infiltrate, Elevated circulating C-react... ORPHA:49041
White Sponge Nevus 2
Hyperparakeratosis OMIM:615785
Orofaciodigital Syndrome Type 1
Chronic otitis media, Brittle hair, Abnormal dental enamel morphology, Exocrine pancreatic insuff... ORPHA:2750
Sapho Syndrome
Arthritis, Skin rash, Synovitis, Palmoplantar pustulosis, Pustule, Inflammation of the large inte... ORPHA:793
Hyper-Ige Syndrome 1, Autosomal Dominant, With Recurrent Infections
Chronic oral candidiasis, Increased circulating IgE level, Skin rash, Chronic mucocutaneous candi... OMIM:147060
Carney Triad
Anemia, Mediastinal lymphadenopathy, Lymphadenopathy, Adrenocortical adenoma, Pheochromocytoma, A... ORPHA:139411
Tyrosinemia Type 2
Abnormality of the nail, Hyperkeratosis, Palmoplantar keratoderma ORPHA:28378
Bartsocas-Papas Syndrome 1
Inguinal hernia, Small nail, Absent eyelashes, Sparse scalp hair, Bilateral cryptorchidism, Ompha... OMIM:263650
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type
Hyperkeratosis ORPHA:163966
Mosaic Variegated Aneuploidy Syndrome 7 With Inflammation And Tumor Predisposition
Hyperkeratosis, Pilomatrixoma, Multinodular goiter, Lipoma OMIM:620189
Myopathy, Epilepsy, And Progressive Cerebral Atrophy
Thymus hyperplasia, Congenital contracture OMIM:619036
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum
Gastrointestinal inflammation, Trichiasis, Nail dystrophy, Anemia, Skin rash, Conjunctivitis, Rhi... ORPHA:95455
Viss Syndrome
Inguinal hernia, Increased circulating IgG level, Chronic gastritis, Increased circulating IgE le... OMIM:619472
Tubulointerstitial Nephritis And Uveitis Syndrome
Normocytic anemia, Reduced hematocrit, Increased circulating antibody level, Normochromic anemia,... ORPHA:91500
Fraser Syndrome 2
Low anterior hairline, Hypoplasia of the thymus OMIM:617666
Noonan Syndrome 10
Hyperkeratosis, Sparse eyebrow, Cryptorchidism, Curly hair OMIM:616564
Orofaciodigital Syndrome I
Enamel hypoplasia, Ovarian cyst, Sparse hair, Hepatic cysts, Hepatic fibrosis, Pancreatic cysts, ... OMIM:311200
Okur-Chung Neurodevelopmental Syndrome
Inguinal hernia, Highly arched eyebrow, Decreased circulating antibody level, Synophrys, Decrease... OMIM:617062
Plague
Carbuncle, Hepatomegaly, Inflammatory abnormality of the eye, Acute infectious pneumonia, Arthrit... ORPHA:707
Familial Benign Chronic Pemphigus
Hyperkeratosis, Acantholysis ORPHA:2841
Nephroblastoma
Neoplasm of the liver, Lymphadenopathy ORPHA:654
Monosomy 18Q
Bilateral cryptorchidism, Hypothyroidism, Secondary growth hormone deficiency, Low anterior hairl... ORPHA:1600
Woodhouse-Sakati Syndrome
Delayed puberty, Decreased response to growth hormone stimulation test, Hyperinsulinemia, Alopeci... ORPHA:3464
Autosomal Recessive Robinow Syndrome
Chronic otitis media, Inguinal hernia, Long eyelashes, Camptodactyly of finger, Umbilical hernia,... ORPHA:1507
Behcet Syndrome
Iritis, Arthritis, Patchy alopecia, Epididymitis, Iridocyclitis, Erythema nodosum OMIM:109650
Turner Syndrome Due To Structural X Chromosome Anomalies
Delayed puberty, Cholestatic liver disease, Hyperconvex fingernails, Biliary cirrhosis, Low poste... ORPHA:99413
Mosaic Monosomy X
Delayed puberty, Cholestatic liver disease, Hyperconvex fingernails, Biliary cirrhosis, Low poste... ORPHA:99228
Monosomy X
Delayed puberty, Cholestatic liver disease, Hyperconvex fingernails, Biliary cirrhosis, Low poste... ORPHA:99226
Turner Syndrome
Delayed puberty, Cholestatic liver disease, Hyperconvex fingernails, Biliary cirrhosis, Low poste... ORPHA:881
Generalized Glucocorticoid Resistance Syndrome
Abnormal circulating testosterone concentration, Frontal balding, Hypokalemia, Increased urinary ... ORPHA:786
Chondrodysplasia Punctata, Autosomal Dominant
Hip contracture, Sparse hair, Knee flexion contracture, Hyperkeratosis with erythema, Coarse hair OMIM:118650
Hypercarotenemia And Vitamin A Deficiency, Autosomal Recessive
Follicular hyperkeratosis OMIM:277350
Alacrima, Achalasia, And Impaired Intellectual Development Syndrome
Hyperkeratosis, High anterior hairline, Adrenal insufficiency OMIM:615510
Neonatal Inflammatory Skin And Bowel Disease
Slow-growing scalp hair, Chronic monilial nail infection, Recurrent bacterial skin infections, Ho... ORPHA:294023
Klatskin Tumor
Jaundice, Hepatomegaly, Lymphadenopathy, Cholangiocarcinoma, Extrahepatic cholestasis ORPHA:99978
Steinert Myotonic Dystrophy
Decreased response to growth hormone stimulation test, Hyperinsulinemia, Abnormality of thyroid p... ORPHA:273
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome
Hypertriglyceridemia, Hypoparathyroidism, Precocious puberty, Hypercalcemia, Decreased circulatin... ORPHA:369837
Microcephalic Osteodysplastic Primordial Dwarfism, Type I
Shoulder flexion contracture, Hyperbilirubinemia, Hyperkeratosis, Elbow flexion contracture, Spar... OMIM:210710
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Severe Form
Delayed puberty, Gastrointestinal inflammation, Nail dystrophy, Anemia, Iron deficiency anemia, F... ORPHA:79408
Autosomal Dominant Robinow Syndrome
Curly eyelashes, Inguinal hernia, Femoral hernia, Long eyelashes, Onychogryposis of fingernail, C... ORPHA:3107
Proteus Syndrome
Abnormal subcutaneous fat tissue distribution, Generalized hyperkeratosis, Ovarian neoplasm, Diab... ORPHA:744
Scalp-Ear-Nipple Syndrome
Nail dysplasia, Breast aplasia, Patchy alopecia, Thickened skin, Sparse pubic hair, Sparse hair, ... OMIM:181270
Encephalocraniocutaneous Lipomatosis
Abnormal eyelash morphology, Multiple lipomas, Lipodystrophy, Alopecia ORPHA:2396
Familial Keratoacanthoma
Hyperkeratosis, Adenoma sebaceum ORPHA:493
Trichotillomania
Alopecia OMIM:613229
Ramon Syndrome
Hyperkeratosis, Juvenile rheumatoid arthritis, Hypertrichosis OMIM:266270
Singleton-Merten Syndrome 2
Hyperkeratosis OMIM:616298
De Sanctis-Cacchione Syndrome
Parakeratosis, Keratitis, Bilateral cryptorchidism, Conjunctivitis OMIM:278800
Phakomatosis Pigmentokeratotica
Hypophosphatemic rickets, Pheochromocytoma, Patchy alopecia, Precocious puberty, Cryptorchidism ORPHA:2874
Ileal Neuroendocrine Tumor
Iron deficiency anemia, Lymphadenopathy, Small intestine carcinoid, Extrahepatic cholestasis, Inc... ORPHA:100078
Linear Nevus Sebaceus Syndrome
Adenoma sebaceum, Alopecia ORPHA:2612
Pancreatoblastoma
Jaundice, Abnormal lymph node morphology, Pancreatic calcification ORPHA:677
Sympathetic Ophthalmia
Posterior uveitis, Poliosis, Alopecia ORPHA:79098
Global Developmental Delay-Osteopenia-Ectodermal Defect Syndrome
Abnormality of hair texture, Epidermal thickening, Synophrys, Thickened skin, Orthokeratotic hype... ORPHA:73223
Cowden Syndrome
Neoplasm of the thyroid gland, Adenoma sebaceum, Generalized hyperkeratosis, Lipoma, Enlarged pol... ORPHA:201
Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii
Abnormal circulating calcium-phosphate regulating hormone concentration, Loss of eyelashes, Thin ... ORPHA:2636
Restrictive Dermopathy
Generalized hyperkeratosis, Sparse or absent eyelashes, Congenital adrenal hypoplasia, Aplasia/Hy... ORPHA:1662
Hutchinson-Gilford Progeria Syndrome
Dystrophic fingernails, Loss of eyelashes, Pubertal developmental failure in females, Decreased s... ORPHA:740
6Q Terminal Deletion Syndrome
Highly arched eyebrow, Hyperkeratosis, Low anterior hairline ORPHA:75857
Warburg-Cinotti Syndrome
Ankle flexion contracture, Sterile abscess, Elbow flexion contracture, Wrist flexion contracture,... OMIM:618175
Velocardiofacial Syndrome
Recurrent infections, Impaired T cell function OMIM:192430
Kyphoscoliotic Ehlers-Danlos Syndrome
Inguinal hernia, Synophrys, Umbilical hernia, Atypical scarring of skin, Follicular hyperkeratosis ORPHA:536545
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 1
Recurrent pneumonia, Inguinal hernia, Follicular hyperkeratosis OMIM:225400
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 2
Follicular hyperkeratosis, Atrophic scars, Inguinal hernia, Umbilical hernia OMIM:614557
Ring Chromosome 13 Syndrome
Primary hypothyroidism, Hypoplasia of the gallbladder, Alopecia ORPHA:96176
Restrictive Dermopathy 1
Absent eyelashes, Adrenal hypoplasia, Sparse eyelashes, Short nail, Sparse eyebrow, Limb joint co... OMIM:275210
Vascular Ehlers-Danlos Syndrome
Aplasia/Hypoplasia of the eyebrow, Inguinal hernia, Hypokalemia, Periodontitis, Abnormal eyelash ... ORPHA:286
Adams-Oliver Syndrome 1
Small nail, Supernumerary nipple, Alopecia OMIM:100300
Progeroid Short Stature With Pigmented Nevi
Recurrent viral infections, Impaired T cell function OMIM:176690
Truncus Arteriosus
Adrenocortical abnormality, Hypoplasia of the thymus ORPHA:3384
Alpha-N-Acetylgalactosaminidase Deficiency Type 2
Hyperkeratosis ORPHA:79280
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome
Abnormality of T cell physiology ORPHA:2237
Pallister-Killian Syndrome
Congenital diaphragmatic hernia, Camptodactyly of 2nd-5th fingers, Inguinal hernia, Sparse anteri... OMIM:601803
Kanzaki Disease
Hyperkeratosis OMIM:609242

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 Psmb10

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 Psmb10.

No publications found that use IMPC mice or data for Psmb10.

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
Psmb10tm1a(EUCOMM)Hmgu KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Psmb10tm1(KOMP)Wtsi Reporter-tagged deletion allele (with selection cassette) Targeting vectors, ES Cells
Psmb10tm1e(EUCOMM)Hmgu Targeted, non-conditional allele ES Cells
Psmb10tm1(KOMP)Vlcg Reporter-tagged deletion allele (with selection cassette) ES Cells

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