B-Cell Expansion With Nfkb And T-Cell Anergy |
|
Decreased specific antibody response to polysaccharide vaccine, Splenomegaly, Decreased circulati... |
OMIM:616452 |
Immunodeficiency 105 |
|
Impaired lymphocyte transformation with phytohemagglutinin, Decreased circulating IgG level, Panc... |
OMIM:619924 |
Immunodeficiency 24 |
|
Lymphopenia, Decreased CD4:CD8 ratio, Decreased circulating IgG2 level, Reduced proportion of muc... |
OMIM:615897 |
Agammaglobulinemia 10, Autosomal Dominant |
|
Transient neutropenia, Agammaglobulinemia, Decreased circulating total IgM, Absent circulating B ... |
OMIM:619707 |
Agammaglobulinemia 2, Autosomal Recessive |
|
Abnormal T cell morphology, Agammaglobulinemia, Decreased circulating total IgM, Absent circulati... |
OMIM:613500 |
Immunodeficiency, Common Variable, 3 |
|
Decreased proportion of class-switched memory B cells, Decreased circulating total IgM, Reduced i... |
OMIM:613493 |
Immunodeficiency With Hyper-Igm, Type 3 |
|
Impaired Ig class switch recombination, Absence of lymph node germinal center, Impaired memory B ... |
OMIM:606843 |
Immunodeficiency 44 |
|
Decreased circulating total IgM, Lymphopenia, Decreased circulating IgA level, Abnormal circulati... |
OMIM:616636 |
Agammaglobulinemia 8B, Autosomal Recessive |
|
Pancytopenia, Splenomegaly, Decreased proportion of CD8-positive, alpha-beta TEMRA T cells, B Acu... |
OMIM:619824 |
Immunoglobulin A Deficiency 2 |
|
Abnormal lymphocyte morphology, Decreased circulating IgA level |
OMIM:609529 |
Caspase 8 Deficiency |
|
Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc... |
OMIM:607271 |
Immunodeficiency 18 |
|
Recurrent respiratory infections, Defective T cell proliferation, Recurrent gastroenteritis, Recu... |
OMIM:615615 |
Agammaglobulinemia 6, Autosomal Recessive |
|
Abnormal T cell morphology, Agammaglobulinemia, Decreased circulating total IgM, B lymphocytopeni... |
OMIM:612692 |
Immunodeficiency 70 |
|
Decreased circulating total IgG, Decreased circulating antibody level, Decreased circulating tota... |
OMIM:618969 |
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia |
|
Cervical lymphadenopathy, Decreased circulating total IgM, B lymphocytopenia, Abnormally low T ce... |
OMIM:618987 |
Combined Cellular And Humoral Immune Defects With Granulomas |
|
T lymphocytopenia, Decreased circulating IgG level, B lymphocytopenia |
OMIM:233650 |
Severe Combined Immunodeficiency, X-Linked |
|
Impaired lymphocyte transformation with phytohemagglutinin, Hepatomegaly, Reduced natural killer ... |
OMIM:300400 |
Transcobalamin Deficiency |
|
Lymphopenia, Pancytopenia, Decreased circulating antibody level, Decreased circulating total IgM,... |
ORPHA:859 |
Immunodeficiency 72 With Autoinflammation And Lymphoproliferation |
|
Increased circulating IgE level, Hepatosplenomegaly, Increased proportion of memory T cells, Incr... |
OMIM:618982 |
Immunodeficiency, Common Variable, 1 |
|
Hepatomegaly, Impaired T cell function, Splenomegaly, Neutropenia in presence of anti-neutropil a... |
OMIM:607594 |
Immunodeficiency 64 With Lymphoproliferation |
|
Increased proportion autoreactive unresponsive CD21-/low B cells, Decreased proportion of CD4-pos... |
OMIM:618534 |
Combined Immunodeficiency, X-Linked |
|
Sinusitis, Pneumonia, Decreased proportion of CD8-positive T cells, Otitis media, Decreased propo... |
OMIM:312863 |
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency |
|
Agammaglobulinemia, Lymphopenia, Hypoplasia of the thymus |
OMIM:200900 |
Immunodeficiency 14B, Autosomal Recessive |
|
Neutrophilia, Reduced natural killer cell activity, Leukocytosis, Monocytosis, Decreased circulat... |
OMIM:619281 |
Immunodeficiency, Partial Combined, With Absence Of Hla Determinants And Beta-2-Microglobulin From Lymphocytes |
|
T lymphocytopenia, Decreased circulating IgG level |
OMIM:242870 |
Immunodeficiency, Common Variable, 14 |
|
Decreased proportion of class-switched memory B cells, Decreased circulating total IgM, Decreased... |
OMIM:617765 |
Chilblain Lupus |
|
Inflammatory abnormality of the skin, Skin rash, Discoid lupus rash, Skin ulcer, Chronic myelomon... |
ORPHA:90280 |
Agammaglobulinemia 4, Autosomal Recessive |
|
Abnormal T cell morphology, Agammaglobulinemia, Decreased circulating total IgM, Neutropenia, Dec... |
OMIM:613502 |
Immunodeficiency 102 |
|
Decreased circulating IgG level, Hepatomegaly, Increased circulating interleukin 6 concentration,... |
OMIM:301082 |
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant |
|
Splenomegaly, Decreased proportion of class-switched memory B cells, Lymphadenopathy, Increased c... |
OMIM:615513 |
Autoimmune Lymphoproliferative Syndrome |
|
Hepatomegaly, Autoimmune hemolytic anemia, Chronic noninfectious lymphadenopathy, Eosinophilia, I... |
OMIM:601859 |
Immunodeficiency, Ovarian Dysgenesis, And Pulmonary Fibrosis |
|
Abnormality of the tonsils, Decreased proportion of CD8-positive T cells, Decreased circulating t... |
OMIM:611926 |
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency |
|
Failure to thrive, Psoriasiform lesion, Eosinophilia, Increased circulating IgA level, Autoimmune... |
ORPHA:169154 |
Ulerythema Ophryogenesis |
|
Acne, Dry skin, Facial erythema, Erythematous papule, Dermal atrophy, Follicular hyperkeratosis, ... |
ORPHA:3406 |
Agammaglobulinemia 8A, Autosomal Dominant |
|
Agammaglobulinemia, B lymphocytopenia |
OMIM:616941 |
Immunodeficiency 50 |
|
Decreased circulating antibody level, Lymphopenia, Neutropenia |
OMIM:300988 |
Immunodeficiency 99 With Hypogammaglobulinemia And Autoimmune Cytopenias |
|
Absent specific antibody response, Decreased proportion of CD4+CD25+ regulatory T cells, Autoimmu... |
OMIM:619846 |
Immunodeficiency Due To Selective Anti-Polysaccharide Antibody Deficiency |
|
Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc... |
ORPHA:70593 |
Immunodeficiency 48 |
|
Recurrent respiratory infections, Pneumonia, Absence of CD8-positive T cells, Splenomegaly, Recur... |
OMIM:269840 |
Classic Mycosis Fungoides |
|
Skin rash, Eczema, Pruritus, Splenomegaly, Erythema, Hypopigmented skin patches, Skin ulcer, Dry ... |
ORPHA:2584 |
Immunodeficiency 62 |
|
Autoimmune thrombocytopenia, Decreased circulating total IgM, Increased proportion of transitiona... |
OMIM:618459 |
Immunodeficiency 36 With Lymphoproliferation |
|
Decreased circulating IgG level, Splenomegaly, Enlarged tonsils, Chronic lymphatic leukemia, Incr... |
OMIM:616005 |
Immunodeficiency 8 With Lymphoproliferation |
|
Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc... |
OMIM:615401 |
Immunodeficiency 79 |
|
Decreased proportion of CD4-positive T cells, Recurrent upper respiratory tract infections, Recur... |
OMIM:619238 |
Immunodeficiency 85 And Autoimmunity |
|
Decreased circulating IgG level, T lymphocytopenia, Decreased circulating total IgM, Decreased ci... |
OMIM:619510 |
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2 |
|
Decreased circulating antibody level, Decreased circulating total IgM, B lymphocytopenia, Decreas... |
OMIM:614069 |
Immunodeficiency, Common Variable, 7 |
|
Splenomegaly, Chronic (near) absent circulating IgG4, Reduced isohemagglutinin level, Chronic par... |
OMIM:614699 |
Autoimmune Lymphoproliferative Syndrome, Type Iia |
|
Increased circulating IgG level, Iron deficiency anemia, Increased B cell count, Decreased lympho... |
OMIM:603909 |
Persistent Polyclonal B-Cell Lymphocytosis |
|
Splenomegaly, Decreased circulating total IgM, Lymphocytosis, Hepatomegaly |
OMIM:606445 |
Immunodeficiency 60 And Autoimmunity |
|
Pancytopenia, Splenomegaly, Decreased circulating total IgM, Decreased circulating IgE, Decreased... |
OMIM:618394 |
Porokeratosis Plantaris Palmaris Et Disseminata |
|
Porokeratosis, Pruritus, Palmoplantar hyperkeratosis, Skin plaque, Annular cutaneous lesion, Hype... |
ORPHA:737 |
Wiskott-Aldrich Syndrome 2 |
|
Eczema, Reduced natural killer cell activity, Decreased proportion of CD8-positive T cells, Recur... |
OMIM:614493 |
Immunodeficiency 15A |
|
Recurrent respiratory infections, Decreased proportion of CD8-positive T cells, Chronic mucocutan... |
OMIM:618204 |
Lymphoproliferative Syndrome 3 |
|
Decreased circulating antibody level, Lymphadenopathy, Hepatosplenomegaly, Partial absence of spe... |
OMIM:618261 |
Immunodeficiency 109 With Lymphoproliferation |
|
Pancytopenia, Generalized lymphadenopathy, Decreased lymphocyte proliferation in response to anti... |
OMIM:620282 |
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency |
|
Decreased circulating IgG level, Hepatomegaly, Abnormal B cell count, Abnormal T cell count, Auto... |
ORPHA:331206 |
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia |
|
Decreased proportion of CD4-positive T cells, Recurrent respiratory infections, Persistent CMV vi... |
OMIM:300853 |
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome |
|
Small for gestational age, Failure to thrive in infancy, Decreased proportion of CD8-positive T c... |
OMIM:617241 |
Hypohidrotic Ectodermal Dysplasia With Immunodeficiency |
|
Absent peripheral lymph nodes in presence of infection, Abnormal immunoglobulin level, Increased ... |
ORPHA:98813 |
Immunodeficiency 103, Susceptibility To Fungal Infections |
|
Abnormal B cell count, Increased circulating IgE level, Hypereosinophilia, Lymphadenopathy, Abnor... |
OMIM:212050 |
Cernunnos-Xlf Deficiency |
|
Decreased circulating antibody level, Anemia, T lymphocytopenia, B lymphocytopenia, Lymphopenia, ... |
ORPHA:169079 |
Agammaglobulinemia 3, Autosomal Recessive |
|
Abnormal T cell morphology, Agammaglobulinemia, Absent isohemagglutinin level, Absent circulating... |
OMIM:613501 |
Autosomal Dominant Epidermolytic Ichthyosis |
|
Erythroderma, Skin ulcer, Weight loss, Hyperkeratosis, Congenital bullous ichthyosiform erythrode... |
ORPHA:312 |
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency |
|
Failure to thrive, Absence of lymph node germinal center, Increased circulating IgE level, Lack o... |
ORPHA:277 |
Palmoplantar Keratoderma, Norrbotten Recessive Type |
|
Papule, Hyperkeratosis, Palmoplantar keratoderma, Recurrent cutaneous fungal infections |
OMIM:244850 |
Immunodeficiency 92 |
|
Hepatomegaly, Cholangitis, Leukocytosis, Decreased proportion of class-switched memory B cells, S... |
OMIM:619652 |
Acquired Ichthyosis |
|
Recurrent skin infections, Pruritus, Erythema, Hyperkeratosis, Palmoplantar keratoderma, Ichthyos... |
ORPHA:454 |
Hyper-Ige Syndrome 5, Autosomal Recessive, With Recurrent Infections |
|
Increased circulating interleukin 6 concentration, Increased circulating IgE level, Decreased pro... |
OMIM:618944 |
Non-Epidermolytic Palmoplantar Keratoderma |
|
Pruritus, Diffuse palmoplantar hyperkeratosis, Erythema, Skin ulcer, Papule |
ORPHA:2337 |
Rosaï-Dorfman Disease |
|
Erythema, Dysgammaglobulinemia, Anemia, Lymphadenopathy |
ORPHA:158014 |
Immunodeficiency 97 With Autoinflammation |
|
Decreased proportion of CD8-positive, alpha-beta TEMRA T cells, Colitis, Decreased circulating Ig... |
OMIM:619802 |
Immunodeficiency 52 |
|
Decreased proportion of CD4-positive T cells, Autoimmune thrombocytopenia, Splenomegaly, Increase... |
OMIM:617514 |
Congenital Panfollicular Nevus |
|
Pruritus, Hyperkeratosis, Skin nodule, Verrucous papule |
ORPHA:139414 |
Selective Igm Deficiency |
|
Fasciitis, Recurrent herpes, Recurrent staphylococcal infections, Lymphadenitis, Severe varicella... |
ORPHA:331235 |
Immunodeficiency, Common Variable, 13 |
|
Acute lymphoblastic leukemia, Pancytopenia, B lymphocytopenia, Decreased circulating antibody level |
OMIM:616873 |
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells |
|
Pancytopenia, Decreased helper T cell proportion, Hypersplenism, Splenomegaly, Cutaneous anergy |
OMIM:183350 |
Immunodeficiency 95 |
|
Lymphopenia, Decreased circulating IgG3 level, Increased circulating IgG3 level |
OMIM:619773 |
Immunoerythromyeloid Hypoplasia |
|
Erythroid hypoplasia, Decreased circulating IgG level |
OMIM:242880 |
Immunodeficiency 25 |
|
Autoimmune hemolytic anemia, Eosinophilia, Increased circulating IgA level, Increased circulating... |
OMIM:610163 |
Autoinflammation, Antibody Deficiency, And Immune Dysregulation |
|
Decreased circulating total IgM, Decreased circulating IgA level, Decreased proportion of class-s... |
OMIM:614878 |
Immunodeficiency 84 |
|
Perianal abscess, Splenomegaly, B lymphocytopenia |
OMIM:619437 |
Immunodeficiency, Common Variable, 11 |
|
Failure to thrive, Decreased proportion of class-switched memory B cells, Decreased circulating I... |
OMIM:615767 |
Autoimmune Lymphoproliferative Syndrome, Type Iii |
|
Increased proportion autoreactive unresponsive CD21-/low B cells, Hepatomegaly, Autoimmune hemoly... |
OMIM:615559 |
Reticular Dysgenesis |
|
Skin rash, Abnormality of neutrophils, Skin ulcer, Decreased circulating antibody level, Weight l... |
ORPHA:33355 |
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta |
|
Lymphopenia, Eosinophilia, Hepatitis, Hepatosplenomegaly, Increased circulating antibody level, D... |
ORPHA:169160 |
Immunodeficiency 11A |
|
Decreased proportion of CD4+CD25+ regulatory T cells, Decreased circulating antibody level, Agamm... |
OMIM:615206 |
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation |
|
Lymphopenia, Autoimmune hemolytic anemia, Hepatomegaly, Autoimmune thrombocytopenia, Splenomegaly... |
OMIM:616100 |
Necrobiosis Lipoidica |
|
Inflammatory abnormality of the skin, Indurated nodule, Skin nodule, Erythema, Skin ulcer, Atroph... |
ORPHA:542592 |
Autoinflammation With Arthritis And Dyskeratosis |
|
Hepatomegaly, Autoimmune hemolytic anemia, Failure to thrive, Epidermal acanthosis, Increased cir... |
OMIM:617388 |
Immunodeficiency 15B |
|
Decreased circulating antibody level, Agammaglobulinemia, Monocytosis, Decreased lymphocyte proli... |
OMIM:615592 |
Immunodeficiency With Hyper-Igm, Type 2 |
|
Impaired Ig class switch recombination, Lymphadenopathy, Increased circulating IgM level, Decreas... |
OMIM:605258 |
Severe Combined Immunodeficiency Due To Foxn1 Deficiency |
|
T lymphocytopenia |
ORPHA:169095 |
Hyperkeratosis Lenticularis Perstans |
|
Aplasia/Hypoplasia of the skin, Hyperkeratosis lenticularis perstans, Pruritus, Skin ulcer, Papule |
ORPHA:409 |
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency |
|
Decreased circulating IgG level, Lymphopenia, Hepatomegaly, Decreased proportion of naive T cells... |
ORPHA:276 |
Mu-Heavy Chain Disease |
|
Hepatomegaly, Abnormal B cell count, Splenomegaly, Lymphadenopathy, Increased circulating antibod... |
ORPHA:100024 |
Histiocytosis, Familial Lipochrome |
|
Increased circulating antibody level, Histiocytosis |
OMIM:235900 |
Neutropenia, Severe Congenital, 2, Autosomal Dominant |
|
Monocytosis, B lymphocytopenia, Neutropenia |
OMIM:613107 |
Combined Immunodeficiency Due To Zap70 Deficiency |
|
Recurrent viral infections, Lymphadenitis, Colitis, Lymphocytosis, Autoimmune thrombocytopenia, H... |
ORPHA:911 |
Porokeratosis Of Mibelli |
|
Pruritus, Hyperkeratosis, Porokeratosis, Aplasia/Hypoplasia of the skin |
ORPHA:735 |
Immunodeficiency 78 With Autoimmunity And Developmental Delay |
|
Autoimmune hemolytic anemia, Fluctuating splenomegaly, Autoimmune thrombocytopenia, Neutropenia i... |
OMIM:619220 |
Agammaglobulinemia 7, Autosomal Recessive |
|
Agammaglobulinemia, Reduced natural killer cell count, Panhypogammaglobulinemia, Neutropenia |
OMIM:615214 |
Proteasome-Associated Autoinflammatory Syndrome 2 |
|
Increased CD4:CD8 ratio, Abnormal circulating IgM level, Increased circulating IgA level, Lymphad... |
OMIM:618048 |
Immunodeficiency With Hyper-Igm, Type 1 |
|
Decreased circulating IgE, Neutropenia, Decreased circulating IgG level, Hemolytic anemia, Hepato... |
OMIM:308230 |
Epidermolysis Bullosa Simplex 1C, Localized |
|
Hyperkeratosis, Milia |
OMIM:131800 |
Aquagenic Palmoplantar Keratoderma |
|
Excessive skin wrinkling on dorsum of hands and fingers, Atopic dermatitis, Orthokeratotic hyperk... |
ORPHA:498359 |
Immunodeficiency By Defective Expression Of Mhc Class Ii |
|
Recurrent herpes, Sinusitis, Abnormal CD4:CD8 ratio, Recurrent viral infections, Acute otitis med... |
ORPHA:572 |
Autoimmune Disease, Multisystem, Infantile-Onset, 2 |
|
Impaired lymphocyte transformation with phytohemagglutinin, Increased CD4:CD8 ratio, Autoimmunity... |
OMIM:617006 |
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity |
|
Hemolytic anemia, Autoimmune hemolytic anemia, Decreased proportion of CD4+CD25+ regulatory T cel... |
OMIM:606367 |
Bone Marrow Failure Syndrome 4 |
|
Thrombocytopenia, Decreased circulating antibody level, Leukopenia, Bone marrow hypocellularity, ... |
OMIM:618116 |
Immunodeficiency, Common Variable, 2 |
|
Hepatomegaly, Impaired T cell function, Follicular hyperplasia, Splenomegaly, Lymphadenopathy, De... |
OMIM:240500 |
Isolated Agammaglobulinemia |
|
Recurrent cutaneous abscess formation, Failure to thrive, Sinusitis, Skin rash, Pneumonia, Abnorm... |
ORPHA:229717 |
Immunodeficiency With Hyper-Igm, Type 5 |
|
Impaired Ig class switch recombination, Lymphadenopathy, Increased circulating IgM level, Decreas... |
OMIM:608106 |
Acrokeratosis Verruciformis |
|
Hyperkeratosis, Punctate palmoplantar hyperkeratosis, Verrucous papule, Acrokeratosis |
OMIM:101900 |
Immunodeficiency 43 |
|
Decreased circulating IgG level, Lung abscess, Decreased specific antibody response to polysaccha... |
OMIM:241600 |
Hyper-Ige Syndrome 4A, Autosomal Dominant, With Recurrent Infections |
|
Lymphopenia, Increased circulating IgE level, Decreased circulating IgA level, Decreased circulat... |
OMIM:619752 |
Erythrokeratodermia Variabilis |
|
Macule, Skin rash, Hypermelanotic macule, Short stature, Erythema, Patchy palmoplantar hyperkerat... |
ORPHA:317 |
Kimura Disease |
|
Eosinophilia, Follicular hyperplasia, Increased circulating IgE level, Lymphadenopathy, Abnormal ... |
ORPHA:482 |
Palmoplantar Keratoderma And Congenital Alopecia 2 |
|
Palmoplantar hyperkeratosis, Facial erythema, Hyperkeratosis, Dry skin, Sclerodactyly |
OMIM:212360 |
Insulin-Resistance Syndrome Type A |
|
Hyperkeratosis, Subcutaneous nodule, Delayed puberty |
ORPHA:2297 |
Sting-Associated Vasculopathy, Infantile-Onset |
|
Failure to thrive, Cutis marmorata, Increased circulating IgA level, Follicular hyperplasia, Eryt... |
OMIM:615934 |
Leishmaniasis |
|
Pancytopenia, Abnormal macrophage morphology, Splenomegaly, Skin ulcer, Weight loss, Anemia, Leuk... |
ORPHA:507 |
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive |
|
T lymphocytopenia, Panhypogammaglobulinemia, B lymphocytopenia |
OMIM:601457 |
Immunodeficiency 96 |
|
Increased proportion of gamma-delta T cells, Decreased circulating total IgM, Defective T cell pr... |
OMIM:619774 |
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency |
|
Impaired lymphocyte transformation with phytohemagglutinin, Decreased circulating IgG level, Abse... |
ORPHA:35078 |
Immunodeficiency 57 With Autoinflammation |
|
Perianal abscess, Decreased circulating antibody level, T lymphocytopenia, B lymphocytopenia, Par... |
OMIM:618108 |
Combined Immunodeficiency Due To Dock8 Deficiency |
|
T lymphocytopenia, Increased circulating IgE level, B lymphocytopenia, Skin ulcer |
ORPHA:217390 |
Autosomal Recessive Generalized Epidermolysis Bullosa Simplex |
|
Aplasia cutis congenita on trunk or limbs, Pruritus, Palmoplantar hyperkeratosis, Hyperkeratosis,... |
ORPHA:89838 |
Cd8 Deficiency, Familial |
|
Recurrent respiratory infections, Recurrent viral infections, Absence of CD8-positive T cells, Br... |
OMIM:608957 |
Ichthyosis Hystrix, Curth-Macklin Type |
|
Hyperkeratotic papule, Palmoplantar keratoderma, Scaling skin |
OMIM:146590 |
Mastocytosis, Cutaneous |
|
Cutaneous mastocytosis, Urticaria, Erythema, Telangiectasia macularis eruptiva perstans |
OMIM:154800 |
Ichthyosis, Congenital, Autosomal Recessive 5 |
|
Parakeratosis, Acanthocytosis, Palmoplantar keratoderma, Congenital nonbullous ichthyosiform eryt... |
OMIM:604777 |
Krt1-Related Diffuse Nonepidermolytic Keratoderma |
|
Diffuse palmoplantar hyperkeratosis, Nonepidermolytic palmoplantar hyperkeratosis, Erythema, Atop... |
ORPHA:530838 |
Peeling Skin Syndrome 5 |
|
Hyperkeratosis, Epidermal acanthosis, Scaling skin |
OMIM:617115 |
Neutropenia-Monocytopenia-Deafness Syndrome |
|
Abnormal macrophage morphology, Abnormality of neutrophils |
ORPHA:2690 |
Hepatic Venoocclusive Disease With Immunodeficiency |
|
Abnormality of the liver, Decreased circulating IgG level, Absence of lymph node germinal center |
OMIM:235550 |
Ichthyosis, Congenital, Autosomal Recessive 13 |
|
Ichthyosis, Hyperkeratosis, Hypergranulosis, Palmoplantar hyperkeratosis |
OMIM:617574 |
Immunodeficiency 76 |
|
Splenomegaly, Lymphadenopathy, T lymphocytopenia, B lymphocytopenia, Lymphopenia |
OMIM:619164 |
Jessner Lymphocytic Infiltration Of The Skin |
|
Abnormal lymphocyte morphology, Cutaneous photosensitivity, Erythema |
ORPHA:33314 |
Palmoplantar Keratoderma, Nonepidermolytic, Focal 1 |
|
Perioral hyperkeratosis, Palmoplantar keratoderma, Follicular hyperkeratosis, Congenital bullous ... |
OMIM:613000 |
Immunodeficiency 27A |
|
Splenomegaly, Leukocytosis, Lymphadenopathy, Hepatosplenomegaly, Increased circulating IgG level,... |
OMIM:209950 |
Hyperkeratosis-Hyperpigmentation Syndrome |
|
Multiple cafe-au-lait spots, Hyperkeratosis, Papule |
ORPHA:1336 |
Ichthyosis, Lamellar, Autosomal Dominant |
|
Pruritus, Hyperkeratosis, Congenital nonbullous ichthyosiform erythroderma |
OMIM:146750 |
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity |
|
Hepatomegaly, Autoimmune hemolytic anemia, Failure to thrive, Splenomegaly, Lymphadenopathy, Incr... |
OMIM:618495 |
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation |
|
Hepatomegaly, Failure to thrive, Generalized lymphadenopathy, Aplasia of the thymus, Eosinophilia... |
OMIM:602450 |
Chondroitin-6-Sulfaturia, Defective Cellular Immunity, Nephrotic Syndrome |
|
Macronodular cirrhosis, Decreased circulating IgA level, Abnormal T cell morphology |
OMIM:215250 |
Severe Combined Immunodeficiency Due To Dclre1C Deficiency |
|
Skin rash, Autoimmunity, Recurrent viral infections, Recurrent mycobacterial infections, Recurren... |
ORPHA:275 |
Pityriasis Rubra Pilaris |
|
Subungual hyperkeratosis, Eczema, Pruritus, Thickened skin, Pustule, Erythroderma, Palmoplantar k... |
ORPHA:2897 |
Immunodeficiency Due To Defect In Mapbp-Interacting Protein |
|
Decreased circulating total IgM, Neutropenia |
OMIM:610798 |
Reticulate Acropigmentation Of Kitamura |
|
Macule, Hyperkeratosis |
OMIM:615537 |
Peeling Skin Syndrome 1 |
|
Eosinophilia, Increased circulating IgE level, Scaling skin |
OMIM:270300 |
Lymphoma, Hodgkin, Classic |
|
Impaired lymphocyte transformation with phytohemagglutinin, Polyclonal elevation of IgM |
OMIM:236000 |
Ras-Associated Autoimmune Leukoproliferative Disorder |
|
Hemolytic anemia, Pancytopenia, Recurrent respiratory infections, Autoimmunity, Autoimmune thromb... |
OMIM:614470 |
Iga Pemphigus |
|
Neutrophilic infiltration of the skin, Eosinophilia, Monoclonal elevation of circulating IgA, Aca... |
ORPHA:555905 |
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis |
|
Lymphopenia, Autoimmune hemolytic anemia, Plasmacytosis, Increased circulating antibody level |
OMIM:247800 |
Neutropenia, Severe Congenital, 5, Autosomal Recessive |
|
Extramedullary hematopoiesis, Splenomegaly, Thrombocytopenia, Leukopenia, Increased circulating a... |
OMIM:615285 |
Activated Pi3K-Delta Syndrome |
|
Hepatomegaly, Splenomegaly, Recurrent tonsillitis, Lymphadenopathy, Decreased circulating antibod... |
ORPHA:397596 |
Immunodeficiency 19 |
|
T lymphocytopenia, Abnormal B cell morphology, Abnormal natural killer cell morphology |
OMIM:615617 |
Neutropenia, Severe Congenital, 1, Autosomal Dominant |
|
Congenital agranulocytosis, Acute monocytic leukemia, Eosinophilia, Monocytosis, Increased circul... |
OMIM:202700 |
Ichthyosis, Congenital, Autosomal Recessive 14 |
|
Hyperkeratosis, Orthokeratotic hyperkeratosis, Erythema, Scaling skin |
OMIM:617571 |
Pyogenic Sterile Arthritis, Pyoderma Gangrenosum, And Acne |
|
Pancytopenia, Acne, Elevated circulating C-reactive protein concentration, Microcytic anemia, Pyo... |
OMIM:604416 |
Immunodeficiency 89 And Autoimmunity |
|
Reduced circulating interleukin 17A concentration, Reduced circulating interleukin 23 concentrati... |
OMIM:619632 |
Hyper-Ige Syndrome 1, Autosomal Dominant, With Recurrent Infections |
|
Erythema, Increased circulating IgE level, Eosinophilia, Cutaneous abscess |
OMIM:147060 |
Thrombocytopenia With Elevated Serum Iga And Renal Disease |
|
Thrombocytopenia, Increased circulating IgA level |
OMIM:314000 |
Panniculitis-Induced Localized Lipodystrophy |
|
Reduced subcutaneous adipose tissue, Erythema, Vasculitis in the skin, Abnormal immunoglobulin level |
ORPHA:90159 |
Ichthyosis, Congenital, Autosomal Recessive 10 |
|
Hypergranulosis, Hyperkeratosis, Orthokeratotic hyperkeratosis, Palmoplantar keratoderma, General... |
OMIM:615024 |
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency |
|
Absent specific antibody response, Autoimmune hemolytic anemia, Severe B lymphocytopenia, Aplasia... |
OMIM:102700 |
Immunodeficiency 107, Susceptibility To Invasive Staphylococcus Aureus Infection |
|
Chronic furunculosis, Pyoderma gangrenosum, Cutaneous abscess |
OMIM:619986 |
Epidermolytic Hyperkeratosis 2 |
|
Palmoplantar hyperkeratosis, Hyperkeratosis, Cobblestone-like hyperkeratosis, Palmoplantar kerato... |
OMIM:620150 |
Immunodeficiency 93 And Hypertrophic Cardiomyopathy |
|
Decreased proportion of class-switched memory B cells, Agammaglobulinemia, Decreased circulating ... |
OMIM:619705 |
Psoriasis 2 |
|
Parakeratosis, Psoriasiform dermatitis, Epidermal acanthosis, Hyperkeratosis, Scaling skin |
OMIM:602723 |
Immunodeficiency 17 |
|
Recurrent respiratory infections, Autoimmune hemolytic anemia, Eczema, Decreased proportion of CD... |
OMIM:615607 |
Immunodeficiency 37 |
|
Decreased proportion of central memory CD4-positive, alpha-beta T cells, Decreased circulating an... |
OMIM:616098 |
Dracunculiasis |
|
Recurrent cutaneous abscess formation, Skin rash, Pruritus, Subcutaneous nodule, Skin ulcer, Arth... |
ORPHA:231 |
Ichthyosis Vulgaris |
|
Eczematoid dermatitis, Dry skin, Ichthyosis |
OMIM:146700 |
X-Linked Agammaglobulinemia |
|
Recurrent cutaneous abscess formation, Sinusitis, Osteomyelitis, Skin rash, Short stature, Recurr... |
ORPHA:47 |
Dowling-Degos Disease 2 |
|
Hyperkeratotic papule, Hypomelanotic macule, Follicular hyperkeratosis |
OMIM:615327 |
Dermatitis, Atopic |
|
Recurrent skin infections, Allergic rhinitis, Eczema, Pruritus, Atopic dermatitis, Facial erythem... |
OMIM:603165 |
Palmoplantar Keratoderma, Punctate Type Iii |
|
Hyperkeratosis, Acrokeratosis |
OMIM:101850 |
Immunodeficiency 22 |
|
Abscess, Anemia, Decreased circulating total IgM, Decreased circulating IgE, Decreased proportion... |
OMIM:615758 |
Immunodeficiency 86 |
|
Impaired oxidative burst, Decreased circulating IgG level, Increased circulating IgM level |
OMIM:619549 |
Verrucous Hemangioma |
|
Inflammatory abnormality of the skin, Hyperkeratotic papule, Skin plaque |
ORPHA:464318 |
Pgm3-Cdg |
|
Abnormal CD4:CD8 ratio, Increased circulating IgG level, Leukopenia, T lymphocytopenia, Neutropen... |
ORPHA:443811 |
Reticular Dysgenesis |
|
Congenital agranulocytosis, Impaired T cell function, Lack of T cell function, Leukopenia, Hypopl... |
OMIM:267500 |
Congenital Disorder Of Glycosylation, Type Iq |
|
Failure to thrive, Eczema, Microcytic anemia, Cutis laxa, Hyperkeratosis, Ichthyosis, Dry skin |
OMIM:612379 |
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Intermediate Form |
|
Plantar hyperkeratosis, Hypermelanotic macule, Pruritus, Spotty hypopigmentation, Hyperkeratosis,... |
ORPHA:79399 |
Myeloproliferative/Lymphoproliferative Neoplasms, Familial (Multiple Types), Susceptibility To |
|
Acute myeloid leukemia, Refractory anemia, Eczema, Leukopenia, Monocytosis, Bone marrow hypocellu... |
OMIM:616871 |
Immunodeficiency, Common Variable, 8, With Autoimmunity |
|
Pancytopenia, Autoimmune hemolytic anemia, Generalized lymphadenopathy, Chronic neutropenia, Auto... |
OMIM:614700 |
Lichen Planopilaris |
|
Pruritus, Hypopigmented skin patches, Hepatitis, Skin ulcer, Hyperkeratosis, Dermal atrophy, Papule |
ORPHA:525 |
Hyper-Ige Syndrome 3, Autosomal Recessive, With Recurrent Infections |
|
Osteomyelitis, Recurrent skin infections, Eczema, Eosinophilia, Pruritus, Recurrent pneumonia, In... |
OMIM:618282 |
Elastosis Perforans Serpiginosa |
|
Skin-colored papule, Crusting erythematous dermatitis, Cutis laxa, Hyperkeratotic papule, Erythem... |
ORPHA:79148 |
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia |
|
Decreased circulating IgG level, Pancytopenia, Generalized lymphadenopathy, Decreased lymphocyte ... |
OMIM:618986 |
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1 |
|
T lymphocytopenia, Reduced natural killer cell count, Increased circulating IgM level, Decreased ... |
OMIM:242860 |
Erythrokeratoderma ''En Cocardes'' |
|
Hyperkeratosis, Papule |
ORPHA:315 |
Immunodeficiency 75 With Lymphoproliferation |
|
Decreased proportion of class-switched memory B cells, Follicular hyperplasia, Lymphadenopathy, H... |
OMIM:619126 |
Ataxia-Pancytopenia Syndrome |
|
Pancytopenia, Abnormal macrophage morphology, Abnormality of neutrophils, Splenomegaly, Acute mye... |
ORPHA:2585 |
Neutropenia, Chronic Familial |
|
Increased circulating antibody level, Neutropenia |
OMIM:162700 |
Agammaglobulinemia, X-Linked |
|
Hepatocellular carcinoma, Enteroviral hepatitis, Agammaglobulinemia, T lymphocytopenia, Decreased... |
OMIM:300755 |
Ichthyosis, Congenital, Autosomal Recessive 6 |
|
Parakeratosis, Hyperkeratosis, Palmoplantar keratoderma, Generalized ichthyosis, Congenital nonbu... |
OMIM:612281 |
Pruritic Urticarial Papules And Plaques Of Pregnancy |
|
Urticarial plaque, Parakeratosis, Pruritus, Pruritis on abdomen, Pruritus on foot, Increased body... |
ORPHA:64745 |
Immunodeficiency 11B With Atopic Dermatitis |
|
Decreased circulating total IgM, Increased circulating IgE level, Eosinophilia |
OMIM:617638 |
Aicardi-Goutieres Syndrome 5 |
|
Dry skin, Scaling skin, Thrombocytopenia, Increased circulating interferon-gamma concentration |
OMIM:612952 |
Ichthyosis With Confetti |
|
Short stature, Pruritus, Palmoplantar hyperkeratosis, Ichthyosis, Scaling skin, Congenital nonbul... |
OMIM:609165 |
Autoinflammatory Disease, Systemic, X-Linked |
|
Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc... |
OMIM:301081 |
Pemphigus Foliaceus |
|
Psoriasiform dermatitis, Acantholysis, Pruritus, Pustule, Crusting erythematous dermatitis, Eryth... |
ORPHA:79481 |
Dystrophic Epidermolysis Bullosa Pruriginosa |
|
Pruritus, Increased circulating IgE level, Subcutaneous nodule, Hyperkeratosis, Atrophic scars, D... |
ORPHA:89843 |
Primary Intestinal Lymphangiectasia |
|
Lymphopenia, Peritoneal effusion, Decreased circulating antibody level, Abnormal lymphatic vessel... |
ORPHA:90362 |
Acute Radiation Syndrome |
|
Inflammatory abnormality of the skin, Skin ulcer, Hyperkeratosis, Interstitial pneumonitis, Granu... |
ORPHA:454831 |
T-Cell Immunodeficiency With Thymic Aplasia |
|
Decreased proportion of naive T cells, Sinusitis, Sepsis, Recurrent candida infections, T lymphoc... |
ORPHA:83471 |
Benign Cephalic Histiocytosis |
|
Inflammatory abnormality of the skin, Skin rash, Papule, Histiocytosis |
ORPHA:157997 |
Agammaglobulinemia 9, Autosomal Recessive |
|
Agammaglobulinemia, Thrombocytopenia, Absent circulating B cells |
OMIM:619693 |
Sjögren-Larsson Syndrome |
|
Short stature, Erythema, Hyperkeratosis, Ichthyosis, Dry skin, Inflammatory abnormality of the eye |
ORPHA:816 |
Whim Syndrome 1 |
|
Decreased circulating antibody level, Decreased circulating IgG level, Neutropenia |
OMIM:193670 |
Lymphangiectasia, Intestinal |
|
Decreased circulating IgG level, Intestinal lymphangiectasia, Lymphopenia |
OMIM:152800 |
Undritz Anomaly |
|
Hypersegmentation of neutrophil nuclei |
OMIM:191500 |
Erythrokeratodermia Variabilis Et Progressiva 5 |
|
Hyperkeratosis, Palmoplantar hyperkeratosis |
OMIM:617756 |
Sézary Syndrome |
|
Abnormal immunoglobulin level, Pruritus, Splenomegaly, Dry skin, Palmoplantar keratoderma, Erythr... |
ORPHA:3162 |
Peeling Skin Syndrome 6 |
|
Parakeratosis, Pruritus, Atopic dermatitis, Scaling skin, Orthokeratosis, Dry skin |
OMIM:618084 |
Parana Hard Skin Syndrome |
|
Hyperkeratosis, Thickened skin, Growth delay, Short stature |
ORPHA:2812 |
Retinal Telangiectasia And Hypogammaglobulinemia |
|
Reduced delayed hypersensitivity, Decreased circulating IgG level, Retinal telangiectasia |
OMIM:267900 |
Huriez Syndrome |
|
Aplasia/Hypoplasia of the skin, Lack of skin elasticity, Palmoplantar keratoderma, Dry skin, Scle... |
ORPHA:384 |
Immunodeficiency 81 |
|
Decreased proportion of CD4-positive T cells, Recurrent cutaneous abscess formation, Autoimmune h... |
OMIM:619374 |
Atrophoderma Vermiculata |
|
Hypoplastic pilosebaceous units, Pruritus, Erythema, Periauricular skin pits, Atrophic scars, Ski... |
ORPHA:79100 |
Autosomal Dominant Severe Congenital Neutropenia |
|
Acute myeloid leukemia, Aplastic anemia, Eosinophilia, Pneumonia, Recurrent skin infections, Pyod... |
ORPHA:486 |
Hereditary Palmoplantar Keratoderma, Gamborg-Nielsen Type |
|
Hyperkeratosis with erythema, Diffuse palmoplantar hyperkeratosis |
ORPHA:86923 |
Palmoplantar Keratoderma, Nagashima Type |
|
Orthokeratotic hyperkeratosis, Hypergranulosis, Palmoplantar hyperkeratosis |
OMIM:615598 |
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease |
|
Splenomegaly, Thrombocytopenia, Hepatosplenomegaly, Decreased circulating antibody level, Abnorma... |
OMIM:613101 |
Lymphoproliferative Syndrome, X-Linked, 1 |
|
Hepatomegaly, Pancytopenia, Aplastic anemia, Dysgammaglobulinemia, Reduced natural killer cell ac... |
OMIM:308240 |
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome |
|
Hemolytic anemia, Autoimmune hemolytic anemia, Autoimmunity, Autoimmune thrombocytopenia, Splenom... |
ORPHA:444463 |
Congenital Lethal Erythroderma |
|
Congenital exfoliative erythroderma, Dry skin, Hypoalbuminemia, Ichthyosis, Failure to thrive |
ORPHA:1954 |
Dermatoleukodystrophy |
|
Hyperkeratosis, Thickened skin |
ORPHA:1659 |
Erythrokeratodermia Variabilis Et Progressiva 4 |
|
Congenital nonbullous ichthyosiform erythroderma, Hyperkeratosis, Erythema, Palmoplantar hyperker... |
OMIM:617526 |
Autoimmune Lymphoproliferative Syndrome |
|
Increased circulating IgG level, Lymphocytosis, Increased B cell count, Decreased circulating IgG... |
ORPHA:3261 |
Netherton Syndrome |
|
Parakeratosis, Failure to thrive, Recurrent skin infections, Eczema, Allergic rhinitis, Increased... |
OMIM:256500 |
Recessive X-Linked Ichthyosis |
|
Hyperkeratosis, Dry skin, Ichthyosis |
ORPHA:461 |
Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency |
|
Hepatomegaly, Autoimmune hemolytic anemia, Pure red cell aplasia, Autoimmune thrombocytopenia, Sp... |
ORPHA:436159 |
Amyloidosis, Primary Localized Cutaneous, 3 |
|
Pruritus, Hypopigmented macule, Dry skin, Hypermelanotic macule |
OMIM:617920 |
Hyperimmunoglobulinemia D With Periodic Fever |
|
Hepatomegaly, Increased circulating IgA level, Peritonitis, Erythema, Lymphadenopathy, Urticaria,... |
ORPHA:343 |
Lamellar Ichthyosis |
|
Short stature, Pruritus, Lack of skin elasticity, Hyperkeratosis, Ichthyosis, Erythroderma, Chron... |
ORPHA:313 |
Aplasia Cutis Congenita-Intestinal Lymphangiectasia Syndrome |
|
Lymphopenia, Decreased circulating antibody level |
ORPHA:1116 |
Diffuse Cutaneous Mastocytosis |
|
Hepatomegaly, Abnormality of the spleen, Lymphadenopathy, Darier's sign, Urticaria, Abnormality o... |
ORPHA:79456 |
Palmoplantar Keratoderma-Deafness Syndrome |
|
Hyperkeratosis, Palmoplantar keratoderma |
ORPHA:2202 |
Ichthyosis Hystrix, Lambert Type |
|
Hyperkeratosis, Orthokeratotic hyperkeratosis |
OMIM:146600 |
Pyoderma Gangrenosum |
|
Myositis, Pustule, Skin ulcer, Inflammation of the large intestine, Atrophic scars, Increased cir... |
ORPHA:48104 |
Autoinflammation, Panniculitis, And Dermatosis Syndrome |
|
Neutrophilia, Failure to thrive in infancy, Increased circulating IgA level, Leukocytosis, Lympha... |
OMIM:617099 |
Congenital Disorder Of Glycosylation, Type Iir |
|
Decreased proportion of CD4-positive T cells, Hepatomegaly, Jaundice, Micronodular cirrhosis, Dec... |
OMIM:301045 |
Immunodeficiency, Common Variable, 12, With Autoimmunity |
|
Autoimmune hemolytic anemia, Atrophic gastritis, Recurrent skin infections, Recurrent pneumonia, ... |
OMIM:616576 |
Immunodeficiency 104 |
|
Hepatomegaly, Splenomegaly, T lymphocytopenia, Lymphadenopathy |
OMIM:608971 |
Immunodeficiency 23 |
|
Hemolytic anemia, Failure to thrive, Eosinophilia, Abscess, Erythema, Increased circulating IgE l... |
OMIM:615816 |
Anonychia With Flexural Pigmentation |
|
Hyperkeratosis, Hypermelanotic macule, Follicular hyperkeratosis |
ORPHA:69125 |
Macroglobulinemia, Waldenstrom, Susceptibility To, 1 |
|
Impaired lymphocyte transformation with phytohemagglutinin, Monoclonal immunoglobulin M proteinem... |
OMIM:153600 |
Immunodeficiency 98 With Autoinflammation, X-Linked |
|
Hepatomegaly, Autoimmune hemolytic anemia, Splenomegaly, Lymphadenopathy, B lymphocytopenia, Hemo... |
OMIM:301078 |
Acrokeratoelastoidosis Of Costa |
|
Yellow papule, Hypergranulosis, Piezogenic pedal papules, Palmoplantar hyperkeratosis, Skin plaqu... |
ORPHA:38 |
Epidermolytic Hyperkeratosis 1 |
|
Scaling skin, Erythroderma, Palmoplantar hyperkeratosis, Congenital bullous ichthyosiform erythro... |
OMIM:113800 |
Ichthyosis Hystrix Of Curth-Macklin |
|
Hyperkeratosis, Diffuse palmoplantar hyperkeratosis, Recurrent skin infections, Ichthyosis |
ORPHA:79503 |
Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia |
|
Decreased circulating IgG level, Hepatomegaly, Splenomegaly, Leukopenia, Decreased circulating to... |
OMIM:620210 |
Immune Deficiency, Familial Variable |
|
Decreased circulating IgG level, Decreased circulating IgA level |
OMIM:146830 |
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 6 |
|
Pancytopenia, Decreased circulating antibody level, Bone marrow hypocellularity, Abnormally low T... |
OMIM:619767 |
Lymphoproliferative Syndrome 1 |
|
Pancytopenia, Autoimmune hemolytic anemia, Stomatitis, Autoimmunity, Elevated circulating C-react... |
OMIM:613011 |
Ichthyosis, Hystrix-Like, With Deafness |
|
Scarring alopecia of scalp, Erythroderma, Palmoplantar hyperkeratosis, Hyperkeratosis, Cobbleston... |
OMIM:602540 |
Dermatofibrosarcoma Protuberans |
|
Subcutaneous nodule, Thickened skin, Erythema, Skin ulcer |
ORPHA:31112 |
Omenn Syndrome |
|
Failure to thrive, Eosinophilia, Pneumonia, Pruritus, Splenomegaly, Leukocytosis, Thickened skin,... |
ORPHA:39041 |
Congenital Ichthyosis-Microcephalus-Tetraplegia Syndrome |
|
Dry skin, Ichthyosis |
ORPHA:2271 |
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked |
|
Eosinophilia, Autoimmune thrombocytopenia, Thrombocytopenia, Increased circulating IgE level, Hep... |
OMIM:304790 |
Transcobalamin Ii Deficiency |
|
Hepatomegaly, Macrocytic anemia, Pancytopenia, Erythroid hypoplasia, Reticulocytopenia, Decreased... |
OMIM:275350 |
Leukocyte Adhesion Deficiency, Type Iii |
|
Extramedullary hematopoiesis, Recurrent skin infections, Petechiae, Splenomegaly, Leukocytosis, S... |
OMIM:612840 |
Asthma, Short Stature, And Elevated Iga |
|
Increased circulating IgA level |
OMIM:208600 |
Riddle Syndrome |
|
Decreased circulating IgG level, Dry skin |
OMIM:611943 |
Keratosis Palmoplantaris Striata Ii |
|
Palmoplantar keratoderma, Epidermal acanthosis |
OMIM:612908 |
Hyper-Ige Syndrome 2, Autosomal Recessive, With Recurrent Infections |
|
Eosinophilia, Increased circulating IgE level, Increased circulating IgG level, Decreased circula... |
OMIM:243700 |
Immunodeficiency 46 |
|
Decreased circulating antibody level, Neutropenia, Anemia, Intermittent thrombocytopenia |
OMIM:616740 |
Hyper-Ige Syndrome 4B, Autosomal Recessive, With Recurrent Infections |
|
Increased circulating IgE level, Eosinophilia |
OMIM:618523 |
Prolidase Deficiency |
|
Aplasia/Hypoplasia of the skin, Pruritus, Splenomegaly, Crusting erythematous dermatitis, Erythem... |
ORPHA:742 |
Hemoglobin D Disease |
|
Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, Abnormal hemoglob... |
ORPHA:90039 |
Gamma-A-Globulin, Defect In Assembly Of |
|
Decreased circulating IgA level |
OMIM:137050 |
Bazex Syndrome |
|
Parakeratosis, Pruritus, Hyperkeratosis, Palmoplantar keratoderma, Scaling skin, Acanthosis nigri... |
ORPHA:166113 |
Boutonneuse Fever |
|
Thrombocytopenia, Cervical lymphadenopathy, Lymphadenopathy, Increased circulating IgG level, Leu... |
ORPHA:83313 |
Cutaneous Mastocytoma |
|
Telangiectasia of the skin, Angioedema, Erythema, Darier's sign, Lymphadenopathy, Flushing, Derma... |
ORPHA:79455 |
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome |
|
Chronic oral candidiasis, Abscess, Intermittent thrombocytopenia, Abnormal CD4:CD8 ratio, Splenom... |
OMIM:150550 |
Familial Reactive Perforating Collagenosis |
|
Perifolliculitis, Inflammatory abnormality of the skin, Maculopapular exanthema, Pruritus, Crusti... |
ORPHA:79147 |
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative |
|
Impaired lymphocyte transformation with phytohemagglutinin, Absent natural killer cells, Decrease... |
OMIM:600802 |
Inflammatory Skin And Bowel Disease, Neonatal, 2 |
|
Failure to thrive, Increased circulating IgE level, Epidermal acanthosis |
OMIM:616069 |
Sweet Syndrome |
|
Predominantly dermal neutrophilic infiltrate, Myositis, Increased circulating interleukin 6 conce... |
ORPHA:3243 |
Immunodeficiency 51 |
|
Recurrent skin infections, Eczema, Pneumonia, Pustule, Chronic mucocutaneous candidiasis, Recurre... |
OMIM:613953 |
Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia |
|
Macrocytic anemia, Pancytopenia, Autoimmunity, Anemia of inadequate production, Megaloblastic ane... |
OMIM:617780 |
Trichothiodystrophy 3, Photosensitive |
|
Lymphopenia, Increased circulating IgA level, Bilateral cryptorchidism, Cutaneous photosensitivit... |
OMIM:616395 |
Atelis Syndrome 1 |
|
Decreased lymphocyte proliferation in response to anti-CD3, Anemia, Leukopenia, Dry skin, Thrombo... |
OMIM:620184 |
Bathing Suit Ichthyosis |
|
Parakeratosis, Thickened skin, Erythroderma, Palmoplantar hyperkeratosis, Palmoplantar scaling sk... |
ORPHA:100976 |
Subcutaneous Panniculitis-Like T-Cell Lymphoma |
|
Skin ulcer, Hepatosplenomegaly, Weight loss, Erythematous plaque, Panniculitis, Hemophagocytosis,... |
ORPHA:86884 |
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy |
|
Impaired lymphocyte transformation with phytohemagglutinin, Decreased lymphocyte proliferation in... |
OMIM:619313 |
Inflammatory Skin And Bowel Disease, Neonatal, 1 |
|
Failure to thrive, Increased circulating IgE level, Perianal erythema, Perioral erythema |
OMIM:614328 |
Immunodeficiency 100 With Pulmonary Alveolar Proteinosis And Hypogammaglobulinemia |
|
Splenomegaly, Leukocytosis, Decreased circulating antibody level |
OMIM:618042 |
T-Cell Lymphopenia, Infantile, With Or Without Nail Dystrophy, Autosomal Dominant |
|
T lymphocytopenia, Abnormally low T cell receptor excision circle level |
OMIM:618806 |
Primary Myelofibrosis |
|
Pancytopenia, Extramedullary hematopoiesis, Petechiae, Cachexia, Thrombocytopenia, Leukocytosis, ... |
ORPHA:824 |
Acute Generalized Exanthematous Pustulosis |
|
Neutrophilia, Eosinophilia, Acantholysis, Leukocytosis, Cholestasis, Lymphadenopathy, Scaling ski... |
ORPHA:293173 |
Alpha-Heavy Chain Disease |
|
Hepatomegaly, Dysgammaglobulinemia, Splenomegaly, Lymphadenopathy, Anemia |
ORPHA:100025 |
Peeling Skin Syndrome 4 |
|
Epidermal acanthosis, Hyperkeratosis, Palmoplantar keratoderma, Scaling skin, Orthokeratosis |
OMIM:607936 |
Purine Nucleoside Phosphorylase Deficiency |
|
Sinusitis, Impaired T cell function, Pure red cell aplasia, Recurrent viral infections, Otitis me... |
OMIM:613179 |
Familial Hemophagocytic Lymphohistiocytosis |
|
Increased circulating interleukin 6 concentration, Increased circulating interferon-gamma concent... |
ORPHA:540 |
T-Cell Immunodeficiency, Congenital Alopecia, And Nail Dystrophy |
|
T lymphocytopenia, Decreased helper T cell proportion |
OMIM:601705 |
Idiopathic Chronic Eosinophilic Pneumonia |
|
Leukocytosis, Increased circulating IgE level, Hypereosinophilia, Weight loss, Generalized abnorm... |
ORPHA:2902 |
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 4 |
|
Agammaglobulinemia, Decreased circulating antibody level |
OMIM:616911 |
Keratosis Follicularis Spinulosa Decalvans, X-Linked |
|
Keratitis, Scarring alopecia of scalp, Facial erythema, Folliculitis, Palmoplantar keratoderma, C... |
OMIM:308800 |
Epidermolysis Bullosa Simplex 4, Localized Or Generalized Intermediate, Autosomal Recessive |
|
Hyperkeratosis |
OMIM:615028 |
Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige |
|
Psoriasiform dermatitis, Recurrent skin infections, Hypergranulosis, Acantholysis, Eosinophilic i... |
OMIM:615508 |
Chilblain Lupus 1 |
|
Chilblains, Skin ulcer |
OMIM:610448 |
Immunodeficiency 13 |
|
Lymphopenia, T lymphocytopenia, B lymphocytopenia, Decreased proportion of CD4-positive helper T ... |
OMIM:615518 |
Ichthyosis, Annular Epidermolytic, 2 |
|
Erythema, Palmoplantar hyperkeratosis, Palmoplantar keratoderma, Scaling skin, Orthokeratosis |
OMIM:620148 |
Combined Immunodeficiency Due To Partial Rag1 Deficiency |
|
Autoimmune hemolytic anemia, Splenomegaly, Neutropenia in presence of anti-neutropil antibodies, ... |
ORPHA:231154 |
Hypothyroidism, Congenital, Nongoitrous, 6 |
|
Increased body mass index, Increased body weight, Growth delay, Dry skin, Anemia |
OMIM:614450 |
Epidermolysis Bullosa Dystrophica, Pretibial |
|
Pruritus, Hyperkeratosis, Atrophic scars |
OMIM:131850 |
Hyperkeratosis Lenticularis Perstans |
|
Hyperkeratosis lenticularis perstans |
OMIM:144150 |
Congenital Muscular Dystrophy-Respiratory Failure-Skin Abnormalities-Joint Hyperlaxity Syndrome |
|
Overweight, Follicular hyperkeratosis, Delayed puberty, Dry skin, Mildly elevated creatine kinase |
ORPHA:486815 |
Hereditary Spherocytosis |
|
Reticulocytosis, Spontaneous hemolytic crises, Extramedullary hematopoiesis, Maculopapular exanth... |
ORPHA:822 |
Angioma Serpiginosum, Autosomal Dominant |
|
Hyperkeratosis |
OMIM:106050 |
Papillomatosis, Confluent And Reticulated |
|
Hyperkeratosis |
OMIM:167900 |
Igg4-Related Aortitis |
|
Increased circulating IgG4 level, Increased circulating IgE level, Hypereosinophilia, Weight loss... |
ORPHA:449400 |
Erythrokeratodermia Variabilis Et Progressiva 1 |
|
Generalized hyperkeratosis, Patchy palmoplantar hyperkeratosis, Hypergranulosis, Erythroderma |
OMIM:133200 |
Thrombocytopenia 1 |
|
Increased circulating IgA level, Increased circulating IgE level, Decreased mean platelet volume,... |
OMIM:313900 |
Wiskott-Aldrich Syndrome |
|
Impaired lymphocyte transformation with phytohemagglutinin, Autoimmune hemolytic anemia, Absent m... |
OMIM:301000 |
Prolidase Deficiency |
|
Petechiae, Eczema, Splenomegaly, Recurrent pneumonia, Crusting erythematous dermatitis, Skin ulce... |
OMIM:170100 |
Monocyte Chemotactic Disorder |
|
Cutaneous anergy, Chronic mucocutaneous candidiasis |
OMIM:252250 |
Simple Cryoglobulinemia |
|
Viral hepatitis, Purpura, Monoclonal elevation of circulating IgA, Monoclonal immunoglobulin M pr... |
ORPHA:91139 |
Mal De Meleda |
|
Inflammatory abnormality of the skin, Superficial dermal perivascular inflammatory infiltrate, No... |
ORPHA:87503 |
Lymphoproliferative Syndrome, X-Linked, 2 |
|
Hepatomegaly, Pancytopenia, Aplastic anemia, Splenomegaly, Hepatitis, Decreased circulating antib... |
OMIM:300635 |
Tempi Syndrome |
|
Telangiectasia, Facial erythema, Increased circulating IgG level, Increased hematocrit, Polycythemia |
ORPHA:284227 |
Ichthyosis, Spastic Quadriplegia, And Impaired Intellectual Development |
|
Erythema, Growth delay, Hyperkeratosis, Scaling skin, Congenital nonbullous ichthyosiform erythro... |
OMIM:614457 |
Peeling Skin Syndrome 2 |
|
Erythema, Scaling skin |
OMIM:609796 |
Tn Polyagglutination Syndrome |
|
Abnormal erythrocyte morphology, Autoimmunity |
OMIM:300622 |
Peeling Skin Syndrome 3 |
|
Erythema, White scaling skin |
OMIM:616265 |
Immunodeficiency 33 |
|
Decreased circulating total IgM, Increased circulating IgA level |
OMIM:300636 |
Specific Granule Deficiency 1 |
|
Impaired neutrophil bactericidal activity, Absent neutrophil specific granules, Hyposegmentation ... |
OMIM:245480 |
Palmoplantar Keratoderma, Epidermolytic, 1 |
|
Increased circulating IgE level |
OMIM:144200 |
Acute Myelomonocytic Leukemia |
|
Eosinophilia, Leukocytosis, Anemia, Pallor, Thrombocytopenia |
ORPHA:517 |
Leopard Syndrome 3 |
|
Few cafe-au-lait spots, Numerous nevi, Short stature, Epidermal hyperkeratosis, Growth delay, Hyp... |
OMIM:613707 |
Adult Idiopathic Neutropenia |
|
Abnormal neutrophil count, Monocytosis, Increased circulating IgM level, Recurrent aphthous stoma... |
ORPHA:2688 |
Immunodeficiency 35 |
|
Increased circulating IgE level |
OMIM:611521 |
Acrodermatitis Enteropathica, Zinc-Deficiency Type |
|
Hepatomegaly, Failure to thrive, Perianal erythema, Impaired T cell function, Splenomegaly, Perio... |
OMIM:201100 |
Dowling-Degos Disease |
|
Hypopigmented macule, Epidermoid cyst, Hypermelanotic macule, Pruritus, Palmar pits, Digital pitt... |
ORPHA:79145 |
Immunodeficiency 91 And Hyperinflammation |
|
Neutrophilia, Membranoproliferative glomerulonephritis, Maculopapular exanthema, Elevated circula... |
OMIM:619644 |
Intellectual Developmental Disorder, Fra12A Type |
|
Hyperkeratosis, Erythroderma |
OMIM:136630 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Chudley-Schwartz Type |
|
Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level |
OMIM:300861 |
Hereditary Sensory And Autonomic Neuropathy Type 1 |
|
Hyperkeratosis, Osteomyelitis, Penetrating foot ulcers, Skin ulcer |
ORPHA:36386 |
Congenital Disorder Of Glycosylation, Type Iil |
|
Pancytopenia, Failure to thrive, Elevated circulating creatine kinase concentration, Impaired T c... |
OMIM:614576 |
22q11 deletion syndrome (Velocardiofacial / DiGeorge syndrome) |
|
T lymphocytopenia |
DECIPHER:16 |
Immunoglobulin A Deficiency 1 |
|
Decreased circulating IgA level |
OMIM:137100 |
Deafness, Neural, With Atypical Atopic Dermatitis |
|
Increased circulating IgE level |
OMIM:221700 |
Neutrophilic Dermatosis, Acute Febrile |
|
Increased circulating interleukin 6 concentration, Elevated circulating C-reactive protein concen... |
OMIM:608068 |
Immunodeficiency, X-Linked, With Deficiency Of 115,000 Dalton Surface Glycoprotein |
|
Recurrent bacterial infections, Abnormality of T cell physiology, Recurrent protozoan infections,... |
OMIM:308220 |
Acne Inversa, Familial, 2, With Or Without Dowling-Degos Disease |
|
Recurrent cutaneous abscess formation, Perifolliculitis, Chronic furunculosis, Follicular hyperke... |
OMIM:613736 |
Congenital Ichthyosiform Erythroderma |
|
Short stature, Keratitis, Pruritus, Ichthyosis, Palmoplantar keratoderma, Erythroderma, Failure t... |
ORPHA:79394 |
Familial Keratoacanthoma |
|
Papule, Hyperkeratosis, Subcutaneous nodule, Skin ulcer |
ORPHA:493 |
Beta-Thalassemia |
|
Abnormal hemoglobin, Microcytic anemia, Splenomegaly, Hepatitis, Skin ulcer, Anemia, Pallor, Thro... |
ORPHA:848 |
Hatipoglu Immunodeficiency Syndrome |
|
Pancytopenia, Failure to thrive, Petechiae, Eczema, Proportionate short stature, Hyperpigmented/h... |
OMIM:620331 |
Ige Responsiveness, Atopic |
|
Increased circulating IgE level |
OMIM:147050 |
Lipoid Proteinosis Of Urbach And Wiethe |
|
Thickened skin, Hyperkeratosis, Skin erosion, Skin plaque, Papule |
OMIM:247100 |
Ataxia-Telangiectasia |
|
Decreased circulating IgG level, Decreased circulating IgG2 level, Acute lymphoblastic leukemia, ... |
OMIM:208900 |
Immunodeficiency 55 |
|
Absent natural killer cells, Recurrent skin infections, Eczema, Short stature, Postnatal growth r... |
OMIM:617827 |
Congenital Disorder Of Glycosylation, Type If |
|
Dry skin, Hyperkeratosis, Scaling skin, Erythroderma, Failure to thrive |
OMIM:609180 |
Combined Immunodeficiency With Facio-Oculo-Skeletal Anomalies |
|
Decreased lymphocyte proliferation in response to anti-CD3, Abnormal T cell subset distribution, ... |
ORPHA:221139 |
Papa Syndrome |
|
Increased inflammatory response, Myositis, Acne, Pustule, Skin ulcer, Arthritis, Increased circul... |
ORPHA:69126 |
Peeling Skin With Leukonychia, Acral Punctate Keratoses, Cheilitis, And Knuckle Pads |
|
Angular cheilitis, Acantholysis, Pruritus, Punctate palmoplantar hyperkeratosis, Cheilitis, Hyper... |
OMIM:616295 |
Schnitzler Syndrome |
|
Hepatomegaly, Splenomegaly, Leukocytosis, Lymphadenopathy, Urticaria, Increased circulating IgM l... |
ORPHA:37748 |
Immunodeficiency 47 |
|
Normocytic anemia, Accessory spleen, Hepatomegaly, Splenomegaly, Cholestasis, Decreased circulati... |
OMIM:300972 |
Hemosiderosis, Pulmonary, With Deficiency Of Gamma-A Globulin |
|
Decreased circulating IgA level |
OMIM:235500 |
Immunodeficiency 68 |
|
Abscess, Lymphadenitis, T lymphocytopenia, B lymphocytopenia, Abnormal natural killer cell count |
OMIM:612260 |
Immunodeficiency 58 |
|
Colitis, Scaling skin, Chronic otitis media, Recurrent cutaneous abscess formation, Psoriasiform ... |
OMIM:618131 |
Sneddon Syndrome |
|
Decreased circulating total IgM, Lymphopenia |
OMIM:182410 |
Agammaglobulinemia 5, Autosomal Dominant |
|
Agammaglobulinemia |
OMIM:613506 |
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome |
|
Hepatomegaly, Splenomegaly, Persistence of hemoglobin F, Pallor, Anemia |
ORPHA:46532 |
Microcephalic Primordial Dwarfism, Toriello Type |
|
Decreased circulating total IgM, Decreased circulating IgG level, Neutropenia |
ORPHA:2643 |
Immunodeficiency 32B |
|
Hepatomegaly, Neutrophilia, Eosinophilia, Thrombocytopenia, Splenomegaly, Impaired oxidative burs... |
OMIM:226990 |
Ichthyosis, Congenital, Autosomal Recessive 7 |
|
Palmoplantar keratoderma, Erythroderma, Hypergranulosis, Ichthyosis |
OMIM:615022 |
Lymphoproliferative Syndrome 2 |
|
Hepatomegaly, Pancytopenia, Aplastic anemia, Splenomegaly, Hepatosplenomegaly, Decreased circulat... |
OMIM:615122 |
Hypotrichosis Simplex Of The Scalp |
|
Increased circulating IgE level, Epidermal acanthosis, Scaling skin |
ORPHA:90368 |
Immunodeficiency 21 |
|
Aplastic anemia, B lymphocytopenia, Neutropenia, Monocytopenia, Myeloid leukemia, Lymphopenia, Re... |
OMIM:614172 |
Proliferating Trichilemmal Cyst |
|
Epidermoid cyst, Skin ulcer |
ORPHA:492 |
Takayasu Arteritis |
|
Increased inflammatory response, Subcutaneous nodule, Skin ulcer, Weight loss, Arthritis, Inflamm... |
ORPHA:3287 |
Glycogen Storage Disease Due To Lactate Dehydrogenase M-Subunit Deficiency |
|
Predominantly dermal neutrophilic infiltrate, Parakeratosis, Superficial dermal perivascular infl... |
ORPHA:284426 |
Agammaglobulinemia 1, Autosomal Recessive |
|
Decreased circulating antibody level, Agammaglobulinemia, B lymphocytopenia, Rectal abscess, Neut... |
OMIM:601495 |
Ichthyosis, Congenital, Autosomal Recessive 12 |
|
White scaling skin |
OMIM:617320 |
Vibratory Urticaria |
|
Urticaria, Flushing, Facial erythema |
OMIM:125630 |
Dyskeratosis Congenita, Autosomal Recessive 5 |
|
Leukopenia, Bone marrow hypocellularity, Decreased circulating antibody level |
OMIM:615190 |
Neuropathy, Hereditary Sensory, Type Iic |
|
Short stature, Acral ulceration |
OMIM:614213 |
Acral Peeling Skin Syndrome |
|
Erythema, Scaling skin, Excessive wrinkling of palmar skin |
ORPHA:263534 |
Ichthyosis, Annular Epidermolytic, 1 |
|
Hyperparakeratosis, Erythema, Palmoplantar hyperkeratosis, Scaling skin, Orthokeratosis |
OMIM:607602 |
Schopf-Schulz-Passarge Syndrome |
|
Hyperkeratosis, Palmoplantar keratoderma, Dry skin |
OMIM:224750 |
Psoriasis 14, Pustular |
|
Parakeratosis, Psoriasiform dermatitis, Neutrophilia, Cholangitis, Elevated circulating C-reactiv... |
OMIM:614204 |
Ollier Disease |
|
Subcutaneous nodule, Skin ulcer, Anemia |
ORPHA:296 |
Ectodermal Dysplasia 15, Hypohidrotic/Hair Type |
|
Eczema, Pruritus, Palmoplantar keratoderma, Dry skin, Blepharitis |
OMIM:618535 |
Griscelli Syndrome, Type 2 |
|
Reduced delayed hypersensitivity, Recurrent bacterial infections, Hemophagocytosis, Hepatosplenom... |
OMIM:607624 |
T-Cell Immunodeficiency With Thymic Aplasia |
|
Aplasia of the thymus, Hepatosplenomegaly, T lymphocytopenia, Abnormally low T cell receptor exci... |
OMIM:242700 |
Keratoderma Hereditarium Mutilans With Ichthyosis |
|
Parakeratosis, Scaling skin on fingertip, Hypergranulosis, Honeycomb palmoplantar hyperkeratosis,... |
ORPHA:79395 |
Netherton Syndrome |
|
Skin rash, Eczema, Short stature, Increased circulating IgE level, Decreased circulating antibody... |
ORPHA:634 |
Muscular Dystrophy, Congenital, Davignon-Chauveau Type |
|
Dry skin, Follicular hyperkeratosis |
OMIM:617066 |
Angiostrongyliasis |
|
Increased circulating IgA level, Hypereosinophilia, Increased circulating specific IgE antibody, ... |
ORPHA:74 |
Autosomal Dominant Hyper-Ige Syndrome |
|
Osteomyelitis, Skin rash, Eczema, Eosinophilia, Pruritus, Increased circulating IgE level, Skin u... |
ORPHA:2314 |
Chronic Mucocutaneous Candidiasis |
|
Skin rash, Pruritus, Erythema, Cheilitis, Hepatitis, Skin ulcer, Hyperkeratosis, Papule |
ORPHA:1334 |
Thrombocytopenia 2 |
|
Leukocytosis, Thrombocytopenia |
OMIM:188000 |
Ichthyosis-Alopecia-Eclabion-Ectropion-Intellectual Disability Syndrome |
|
Cutis laxa, Scaling skin, Generalized ichthyosis, Dry skin, Generalized hyperkeratosis |
ORPHA:2269 |
Immunodeficiency 67 |
|
Transient neutropenia, Increased circulating IgE level, Liver abscess |
OMIM:607676 |
Pili Torti-Onychodysplasia Syndrome |
|
Eczema, Generalized keratosis follicularis, Palmoplantar keratoderma, Keloids, Dry skin |
ORPHA:2890 |
Juvenile Hyaline Fibromatosis |
|
Subcutaneous nodule, Papule, Aplasia/Hypoplasia of the skin, Skin ulcer |
ORPHA:2028 |
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome |
|
Accessory spleen, Decreased circulating IgG level, Severe B lymphocytopenia, Portal hypertension,... |
OMIM:620005 |
Immunodeficiency, Developmental Delay, And Hypohomocysteinemia |
|
Decreased circulating IgA level, Decreased circulating antibody level |
OMIM:617744 |
Meige Disease |
|
Recurrent bacterial skin infections, Recurrent skin infections, Skin ulcer, Atypical scarring of ... |
ORPHA:90186 |
Leukodystrophy, Hypomyelinating, 24 |
|
B lymphocytopenia |
OMIM:619851 |
Multiple Myeloma |
|
Increased circulating IgA level, Splenomegaly, Lymphadenopathy, Decreased circulating antibody le... |
ORPHA:29073 |
C1Q Deficiency 2 |
|
Decreased circulating C1q concentration, Reduced hemolytic complement activity, Facial erythema, ... |
OMIM:620321 |
Hemophagocytic Lymphohistiocytosis, Familial, 3 |
|
Reduced natural killer cell activity, Hepatosplenomegaly, Hemophagocytosis, Granulocytopenia, Anemia |
OMIM:608898 |
Ichthyosis, Congenital, Autosomal Recessive 1 |
|
Parakeratosis, Erythroderma, Palmoplantar hyperkeratosis, Congenital ichthyosiform erythroderma, ... |
OMIM:242300 |
Drug Reaction With Eosinophilia And Systemic Symptoms |
|
Macule, Skin rash, Eosinophilia, Pustule, Myocarditis, Erythema, Hepatitis, Thyroiditis, Weight l... |
ORPHA:139402 |
Thyrotropin-Releasing Hormone Deficiency |
|
Dry skin, Short stature |
OMIM:275120 |
Localized Dystrophic Epidermolysis Bullosa, Pretibial Form |
|
Pruritus, Skin erosion, Localized skin lesion, Gastrointestinal inflammation, Atypical scarring o... |
ORPHA:79410 |
Ichthyosis Prematurity Syndrome |
|
Allergic rhinitis, Pruritus, Generalized ichthyosis, Follicular hyperkeratosis, Erythroderma |
OMIM:608649 |
Candidiasis, Familial, 1 |
|
Cutaneous anergy, Chronic mucocutaneous candidiasis, Recurrent viral infections |
OMIM:114580 |
Primary Erythromelalgia |
|
Leukemia, Erythema |
ORPHA:90026 |
Neutropenia, Lethal Congenital, With Eosinophilia |
|
Neonatal death, Eosinophilia, Neutropenia |
OMIM:257100 |
Hydrops, Lactic Acidosis, And Sideroblastic Anemia |
|
Sideroblastic anemia, Extramedullary hematopoiesis, Small for gestational age, Anemia, Increased ... |
OMIM:617021 |
Acrogeria |
|
Aplasia/Hypoplasia of the skin, Short stature, Skin ulcer, Excessive wrinkled skin, Thin skin |
ORPHA:2500 |
Acquired Purpura Fulminans |
|
Macule, Erythematous macule, Skin rash, Elevated circulating C-reactive protein concentration, Py... |
ORPHA:49566 |
Erythrokeratodermia Variabilis Et Progressiva 6 |
|
Pruritus, Parakeratosis, Superficial dermal perivascular inflammatory infiltrate, Erythematous pl... |
OMIM:618531 |
Hyper-Igd Syndrome |
|
Neutrophilia, Increased circulating IgA level, Lymphadenitis, Leukocytosis, Splenomegaly, Hepatos... |
OMIM:260920 |
Skeletal Dysplasia-Epilepsy-Short Stature Syndrome |
|
Increased circulating IgE level |
ORPHA:1858 |
Ataxia-Photosensitivity-Short Stature Syndrome |
|
Urticaria, Cutaneous photosensitivity, Dry skin |
ORPHA:1184 |
Mutilating Hereditary Sensory Neuropathy With Spastic Paraplegia |
|
Foot osteomyelitis, Acral ulceration, Skin ulcer |
ORPHA:139578 |
Inflammatory Bowel Disease, Immunodeficiency, And Encephalopathy |
|
Perianal abscess, Leukocytosis, Increased circulating IgE level, Increased circulating IgG level,... |
OMIM:618213 |
Eosinophil Peroxidase Deficiency |
|
Eosinophil nuclear hypersegmentation |
OMIM:261500 |
Granulomatous Slack Skin |
|
Abnormal lymph node morphology, Erythema, Redundant skin, Cutis laxa |
ORPHA:33111 |
Graham Little-Piccardi-Lassueur Syndrome |
|
Pruritus, Perifollicular hyperkeratosis |
ORPHA:505 |
Idiopathic Localized Lipodystrophy |
|
Reduced subcutaneous adipose tissue, Erythema, Scaling skin |
ORPHA:90158 |
Amyloidosis, Primary Localized Cutaneous, 1 |
|
Dry skin, Scaling skin |
OMIM:105250 |
Moynahan Syndrome |
|
Hyperkeratosis, Short stature, Cachexia |
ORPHA:2574 |
Pemphigus Vulgaris |
|
Atypical scarring of skin, Recurrent cutaneous abscess formation, Weight loss, Acantholysis |
ORPHA:704 |
Dominant Beta-Thalassemia |
|
Extramedullary hematopoiesis, Decreased mean corpuscular hemoglobin concentration, Failure to thr... |
ORPHA:231226 |
Congenital Factor Xii Deficiency |
|
Penetrating foot ulcers |
ORPHA:330 |
Angioma Serpiginosum |
|
Erythema, Vascular skin abnormality |
ORPHA:95429 |
Ichthyosis, Congenital, Autosomal Recessive 9 |
|
Hypergranulosis, Hyperkeratosis, Congenital nonbullous ichthyosiform erythroderma, Erythroderma, ... |
OMIM:615023 |
Aplasia Cutis Congenita |
|
Aplasia cutis congenita over the scalp vertex, Skin ulcer, Congenital localized absence of skin |
ORPHA:1114 |
Smith-Kingsmore Syndrome |
|
Thrombocytopenia, Decreased circulating IgA level |
OMIM:616638 |
Omenn Syndrome |
|
Hepatomegaly, Severe B lymphocytopenia, Eosinophilia, Splenomegaly, Thrombocytopenia, Lymphadenop... |
OMIM:603554 |
Ataxia-Telangiectasia |
|
Lymphopenia, Aplasia/Hypoplasia of the thymus, Decreased circulating antibody level |
ORPHA:100 |
Ectodermal Dysplasia And Immunodeficiency 1 |
|
Dysgammaglobulinemia, Reduced natural killer cell activity, Increased circulating IgA level, Incr... |
OMIM:300291 |
Bare Lymphocyte Syndrome, Type Ii |
|
Viral hepatitis, Chronic lymphocytic meningitis, Recurrent urinary tract infections, Cholangitis,... |
OMIM:209920 |
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay |
|
Sideroblastic anemia, Splenomegaly, Schistocytosis, Hypochromic microcytic anemia, Decreased circ... |
OMIM:616084 |
Neonatal Lupus Erythematosus |
|
Hemolytic anemia, Pancytopenia, Parakeratosis, Aplastic anemia, Maculopapular exanthema, Skin ras... |
ORPHA:398124 |
Autosomal Erythropoietic Protoporphyria |
|
Microcytic anemia, Erythema, Cirrhosis, Cholelithiasis, Cutaneous photosensitivity |
ORPHA:79278 |
Phenylketonuria |
|
Scleroderma, Dry skin, Eczema |
OMIM:261600 |
Macrophage Activation Syndrome |
|
Increased inflammatory response, Increased circulating interleukin 6 concentration, Hypertriglyce... |
ORPHA:158061 |
Vulvovaginal Gingival Syndrome |
|
Parakeratosis, Pruritus, Erythema, Skin erosion, Abnormality of tumor necrosis factor secretion |
ORPHA:83453 |
Immunodeficiency With Hyper-Igm, Type 4 |
|
Autoimmune hemolytic anemia, Osteomyelitis, Impaired Ig class switch recombination, Absence of ly... |
OMIM:608184 |
Osteopetrosis, Autosomal Recessive 7 |
|
Hepatomegaly, Splenomegaly, Decreased circulating total IgM, Decreased circulating IgG level, Ane... |
OMIM:612301 |
Adult-Onset Still Disease |
|
Hepatomegaly, Generalized lymphadenopathy, Neutrophilia, Splenomegaly, Leukocytosis, Erythema, He... |
ORPHA:829 |
Rothmund-Thomson Syndrome, Type 1 |
|
Recurrent otitis media, Hyperkeratosis, Cafe-au-lait spot, Short stature |
OMIM:618625 |
Anonychia With Flexural Pigmentation |
|
Dry skin |
OMIM:106750 |
Tooth Agenesis, Selective, 8 |
|
Dry skin |
OMIM:617073 |
Centrifugal Lipodystrophy |
|
Reduced subcutaneous adipose tissue, Lack of facial subcutaneous fat, Lymphadenitis, Erythema, Sc... |
ORPHA:90156 |
Fusariosis |
|
Fasciitis, Sinusitis, Myositis, Abnormality of the spleen, Subcutaneous nodule, Neutropenia, Papu... |
ORPHA:228119 |
Immunodeficiency, Common Variable, 6 |
|
Hepatomegaly, Autoimmune thrombocytopenia, Chronic decreased circulating total IgG, Complete or n... |
OMIM:613496 |
Polyarteritis Nodosa |
|
Pericarditis, Elevated circulating C-reactive protein concentration, Erythema, Subcutaneous nodul... |
ORPHA:767 |
Congenital Disorder Of Glycosylation, Type Im |
|
Inflammatory abnormality of the skin, Failure to thrive, Hyperkeratosis, Ichthyosis, Dry skin |
OMIM:610768 |
Orthostatic Hypotensive Disorder, Streeten Type |
|
Bruising susceptibility, Facial erythema |
OMIM:143850 |
Chronic Granulomatous Disease |
|
Macule, Sinusitis, Liver abscess, Eczema, Abnormality of neutrophils, Hypermelanotic macule, Sple... |
ORPHA:379 |
Darier Disease |
|
Macule, Acrokeratosis, Hypermelanotic macule, Pruritus, Thickened skin, Plantar pits, Palmoplanta... |
ORPHA:218 |
Subacute Inflammatory Demyelinating Polyneuropathy |
|
Increased circulating IgG level, Leukocytosis |
ORPHA:206594 |
Autoimmune Disease, Multisystem, With Facial Dysmorphism |
|
Hepatomegaly, Pancytopenia, Portal hypertension, Hypersplenism, Splenomegaly, Hepatitis, Decrease... |
OMIM:613385 |
Beta-Thalassemia Intermedia |
|
Increased HbA2 hemoglobin, Extramedullary hematopoiesis, Anemia of inadequate production, Splenom... |
ORPHA:231222 |
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome |
|
Hepatomegaly, Pancytopenia, Abnormal lymphocyte count, Portal hypertension, Absence of lymph node... |
ORPHA:79124 |
Riddle Syndrome |
|
Conjunctival telangiectasia, Generalized lymphadenopathy, Erythema, Weight loss, Telangiectasia, ... |
ORPHA:420741 |
Acral Self-Healing Collodion Baby |
|
Palmoplantar scaling skin, Erythema, Lack of skin elasticity |
ORPHA:281127 |
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome |
|
Short stature, Obesity, Acanthosis nigricans, Keloids, Dry skin |
ORPHA:3085 |
Trichothiodystrophy 6, Nonphotosensitive |
|
Small for gestational age, Short stature, Mild intrauterine growth retardation, Ichthyosis, Dry skin |
OMIM:616943 |
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency |
|
Recurrent respiratory infections, Glomerulonephritis, Decreased proportion of marginal zone B cel... |
OMIM:619375 |
Eosinophilia, Familial |
|
Anemia, Leukocytosis, Eosinophilia, Thrombocytopenia |
OMIM:131400 |
Spastic Ataxia-Corneal Dystrophy Syndrome |
|
Decreased circulating antibody level |
ORPHA:2572 |
Dyskeratosis Congenita, Digenic |
|
Decreased circulating total IgM, Decreased circulating IgG level, Anemia, Decreased circulating I... |
OMIM:620040 |
Toxic Epidermal Necrolysis |
|
Macule, Acantholysis, Erythema, Skin ulcer, Weight loss, Anemia, Conjunctivitis, Neutropenia, Pan... |
ORPHA:537 |
Insulin Autoimmune Syndrome |
|
Arthralgia/arthritis, Autoimmunity, Autoimmune antibody positivity, Systemic lupus erythematosus,... |
ORPHA:411593 |
Uv-Sensitive Syndrome 3 |
|
Cutaneous photosensitivity, Dry skin, Telangiectasia |
OMIM:614640 |
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome |
|
Urticarial plaque, Elevated circulating C-reactive protein concentration, Leukopenia, Hashimoto t... |
OMIM:615688 |
Intrauterine Growth Retardation With Increased Mitomycin C Sensitivity |
|
Postnatal growth retardation, Intrauterine growth retardation, Pancytopenia |
OMIM:600546 |
Systemic Lupus Erythematosus 17 |
|
Autoimmune thrombocytopenia, Antinuclear antibody positivity, Malar rash, Systemic lupus erythema... |
OMIM:301080 |
Ichthyosis, Congenital, Autosomal Recessive 8 |
|
Hypergranulosis, Erythema, Hyperkeratosis, Ichthyosis, Orthokeratosis |
OMIM:613943 |
Cutaneous Photosensitivity And Colitis, Lethal |
|
Early cutaneous photosensitivity, Erythema |
OMIM:219095 |
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome |
|
Abnormal hemoglobin, Splenomegaly, Thrombocytopenia, Abnormal platelet function, Anemia |
ORPHA:231393 |
Griscelli Syndrome |
|
Hepatomegaly, Abnormality of neutrophils, Splenomegaly, Jaundice, Hepatitis, Decreased circulatin... |
ORPHA:381 |
Recon Progeroid Syndrome |
|
Progeroid facial appearance, Livedo reticularis, Anemia, Cutaneous photosensitivity, Scaling skin... |
OMIM:620370 |
Infantile Digital Fibromatosis |
|
Hyperkeratosis, Parakeratosis, Skin nodule |
ORPHA:199267 |
Grubben-De Cock-Borghgraef Syndrome |
|
Dry skin, Eczema |
ORPHA:2101 |
Beta-Thalassemia Major |
|
Extramedullary hematopoiesis, Decreased mean corpuscular hemoglobin concentration, Failure to thr... |
ORPHA:231214 |
Epidermolytic Palmoplantar Keratoderma |
|
Hypergranulosis, Epidermal hyperkeratosis, Diffuse palmoplantar hyperkeratosis, Palmoplantar hype... |
ORPHA:2199 |
Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis |
|
Parakeratosis, Pruritus, Splenomegaly, Sclerosing cholangitis, Ichthyosis, Orthokeratosis, Dry skin |
OMIM:607626 |
Proteus Syndrome |
|
Hyperkeratosis, Splenomegaly, Epidermal nevus, Nevus |
OMIM:176920 |
Immunodeficiency 82 With Systemic Inflammation |
|
Decreased proportion of naive T cells, Follicular hyperplasia, Splenomegaly, Hepatitis, Lymphaden... |
OMIM:619381 |
Ectodermal Dysplasia-Blindness Syndrome |
|
Hyperkeratosis, Keratoconjunctivitis sicca, Short stature, Skin ulcer |
ORPHA:1806 |
Lichen Planus Pemphigoides |
|
Pruritus, Hyperkeratosis, Conjunctivitis, Skin vesicle, Blepharitis |
ORPHA:254478 |
Mogs-Cdg |
|
Hepatomegaly, Decreased circulating antibody level, Hepatosplenomegaly, Decreased circulating tot... |
ORPHA:79330 |
Progressive Symmetric Erythrokeratodermia |
|
Erythema |
ORPHA:316 |
Uv-Sensitive Syndrome 1 |
|
Cutaneous photosensitivity, Dry skin, Telangiectasia |
OMIM:600630 |
Familial Benign Chronic Pemphigus |
|
Acantholysis, Erythema, Hyperkeratosis, Skin vesicle, Skin erosion |
ORPHA:2841 |
Icf Syndrome |
|
Anemia, Lymphopenia, Abnormality of neutrophils, Decreased circulating antibody level |
ORPHA:2268 |
Sodium-Dependent Multivitamin Transporter Deficiency |
|
Decreased circulating IgG level |
OMIM:618973 |
Igg4-Related Submandibular Gland Disease |
|
Cholangitis, Increased circulating IgG4 level, Eosinophilia, Retroperitoneal fibrosis, Increased ... |
ORPHA:449432 |
Livedoid Vasculopathy |
|
Pancytopenia, Superficial dermal perivascular inflammatory infiltrate, Recurrent skin infections,... |
ORPHA:542643 |
Inclusion Body Myositis |
|
Autoimmunity, Elevated circulating creatine kinase concentration |
ORPHA:611 |
Dermatitis Herpetiformis |
|
Skin vesicle, Urticaria, Erythema, Microcytic anemia |
ORPHA:1656 |
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Recessive |
|
Decreased circulating ceruloplasmin concentration, Short stature, Ichthyosis, Palmoplantar kerato... |
OMIM:242150 |
Lupus Erythematosus Tumidus |
|
Scaling skin |
ORPHA:90283 |
Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency |
|
Chronic gastritis, Recurrent herpes, Liver abscess, Cholangitis, Sepsis, Pulmonary tuberculosis, ... |
ORPHA:183675 |
Acquired Idiopathic Sideroblastic Anemia |
|
Normocytic anemia, Hepatomegaly, Acute myeloid leukemia, Pancytopenia, Thrombocytosis, Anemia of ... |
ORPHA:75564 |
Generalized Pustular Psoriasis |
|
Elevated circulating C-reactive protein concentration, Pustule, Overweight, Leukocytosis, Cheilit... |
ORPHA:247353 |
Purine Nucleoside Phosphorylase Deficiency |
|
Recurrent respiratory infections, Autoimmune hemolytic anemia, Hypouricemia, Autoimmunity, Autoim... |
ORPHA:760 |
Dermoodontodysplasia |
|
Dry skin, Thin skin |
OMIM:125640 |
Lead Poisoning |
|
Small for gestational age, Increased circulating IgE level, Imbalanced hemoglobin synthesis, Abno... |
ORPHA:330015 |
Epidermodysplasia Verruciformis, Susceptibility To, 4 |
|
Increased proportion of exhausted T cells, Facial erythema |
OMIM:618307 |
Hydroa Vacciniforme |
|
Hydroa vacciniforme, Erythema, Telangiectasia of the skin, Cutaneous photosensitivity |
ORPHA:330058 |
Secondary Intestinal Lymphangiectasia |
|
Decreased circulating IgG1 level, Decreased circulating antibody level, Decreased circulating tot... |
ORPHA:90363 |
Ichthyotic Keratoderma, Spasticity, Hypomyelination, And Dysmorphic Facial Features |
|
Parakeratosis, Hyperkeratosis, Ichthyosis, Acanthosis nigricans, Dry skin |
OMIM:618527 |
Pressure-Induced Localized Lipoatrophy |
|
Reduced subcutaneous adipose tissue, Erythema |
ORPHA:90160 |
Harlequin Ichthyosis |
|
Hyperkeratosis, Congenital ichthyosiform erythroderma, Erythroderma, Ichthyosis |
ORPHA:457 |
Poikiloderma With Neutropenia |
|
Plantar hyperkeratosis, Skin rash, Elevated circulating creatine kinase concentration, Short stat... |
OMIM:604173 |
Glutamate Formiminotransferase Deficiency |
|
Growth delay, Hypersegmentation of neutrophil nuclei, Megaloblastic anemia |
OMIM:229100 |
Night Blindness, Congenital Stationary, Type 1C |
|
Dry skin |
OMIM:613216 |
Roifman Syndrome |
|
Eosinophilia, Lymphadenopathy, Decreased circulating antibody level, Hepatosplenomegaly, Decrease... |
ORPHA:353298 |
Trichothiodystrophy 1, Photosensitive |
|
Short stature, Small for gestational age, Dry skin, Hyperkeratosis, Keratoconjunctivitis sicca, C... |
OMIM:601675 |
Free Sialic Acid Storage Disease |
|
Splenomegaly, Failure to thrive in infancy, Skin ulcer |
ORPHA:834 |
Dowling-Degos Disease 4 |
|
Epidermal acanthosis |
OMIM:615696 |
Erythema Of Acral Regions |
|
Erythema |
OMIM:227000 |
Barth Syndrome |
|
Abnormality of neutrophils |
ORPHA:111 |
Craniosynostosis-Mental Retardation-Clefting Syndrome |
|
Dry skin |
OMIM:218650 |
Urban-Rogers-Meyer Syndrome |
|
Cryptorchidism, Increased circulating IgE level, Obesity |
ORPHA:3409 |
Autoimmune Hepatitis |
|
Viral hepatitis, Acute hepatitis, Spider hemangioma, Splenomegaly, Fulminant hepatitis, Jaundice,... |
ORPHA:2137 |
Protoporphyria, Erythropoietic, 1 |
|
Hemolytic anemia, Erythema, Cholelithiasis |
OMIM:177000 |
Erosive Pustular Dermatosis Of The Scalp |
|
Erythema |
ORPHA:222 |
Bullous Impetigo |
|
Erythema, Abnormality of the lymphatic system |
ORPHA:36237 |
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome |
|
Short stature, Eczema, Thrombocytopenia, Subcutaneous nodule, Reticulocytopenia, Dry skin, Leukop... |
ORPHA:508542 |
Mutilating Palmoplantar Keratoderma With Periorificial Keratotic Plaques |
|
Thickened skin, Erythema, Skin ulcer, Palmoplantar keratoderma, Skin fissure |
ORPHA:659 |
Cutaneous Small Vessel Vasculitis |
|
Urticaria, Erythema, Cutis marmorata, Purpura |
ORPHA:889 |
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome |
|
Autoimmune hemolytic anemia, Failure to thrive in infancy, Cachexia, Autoimmune thrombocytopenia,... |
ORPHA:37042 |
Growth Hormone Insensitivity Syndrome With Immune Dysregulation 2, Autosomal Dominant |
|
Increased circulating IgE level |
OMIM:618985 |
Xq28 (MECP2) duplication |
|
Decreased circulating IgA level |
DECIPHER:45 |
Superficial Epidermolytic Ichthyosis |
|
Acantholysis, Erythema, Palmoplantar keratoderma, Thin skin, Ichthyosis |
ORPHA:455 |
Keratolytic Winter Erythema |
|
Erythema |
OMIM:148370 |
Unclassified Myelodysplastic Syndrome |
|
Acute myeloid leukemia, Leukocytosis, Autoimmunity, Bone marrow hypocellularity |
ORPHA:98827 |
Erythrokeratodermia Variabilis Et Progressiva 2 |
|
Erythema |
OMIM:617524 |
Aplasia Cutis-Myopia Syndrome |
|
Aplasia cutis congenita, Skin ulcer |
ORPHA:1117 |
Insulin-Resistance Syndrome Type B |
|
Enlarged ovaries, Abnormality of body weight, Decreased circulating complement factor B concentra... |
ORPHA:2298 |
Pemphigus Erythematosus |
|
Focal dermal aplasia/hypoplasia, Acantholysis, Localized skin lesion, Hypopigmented skin patches,... |
ORPHA:79480 |
Buerger Disease |
|
Skin ulcer |
ORPHA:36258 |
Aspergillosis |
|
Eosinophilia, Increased circulating IgE level, Hepatitis, Neutropenia |
ORPHA:1163 |
Subacute Cutaneous Lupus Erythematosus |
|
Psoriasiform lesion, Discoid lupus rash, Cheilitis, Hyperkeratosis, Annular cutaneous lesion, Der... |
ORPHA:163525 |
Complement Component C1R/C1S Deficiency |
|
Autoimmunity, Discoid lupus rash, Arthritis, Nephritis, Recurrent bronchitis |
OMIM:216950 |
Autoimmune Disease |
|
Autoimmune antibody positivity, Autoimmunity |
OMIM:109100 |
Bullous Diffuse Cutaneous Mastocytosis |
|
Cutaneous mastocytosis, Erythroderma, Pruritus |
ORPHA:280785 |
Amelo-Onycho-Hypohidrotic Syndrome |
|
Hyperkeratosis, Dry skin |
ORPHA:1028 |
Dyskeratosis Congenita, Autosomal Recessive 8 |
|
Pancytopenia, Reduced natural killer cell count, B lymphocytopenia, Bone marrow hypocellularity |
OMIM:620133 |
Macrocephaly/Autism Syndrome |
|
Hepatomegaly, Splenomegaly, Lymphopenia, Decreased circulating antibody level |
OMIM:605309 |
Erythema Nodosum, Familial |
|
Erythema |
OMIM:132990 |
Maculopapular Cutaneous Mastocytosis |
|
Erythema, Darier's sign, Dermatographic urticaria, Generalized abnormality of skin, Flushing |
ORPHA:79457 |
Cardiomyopathy, Dilated, With Woolly Hair, Keratoderma, And Tooth Agenesis |
|
Parakeratosis, Pruritus, Erythema, Hyperkeratosis, Palmoplantar keratoderma, Ichthyosis |
OMIM:615821 |
Immunodeficiency, Common Variable, 5 |
|
Chronic decreased circulating total IgG |
OMIM:613495 |
Drug-Induced Localized Lipodystrophy |
|
Reduced subcutaneous adipose tissue, Erythema |
ORPHA:90157 |
Bloom Syndrome |
|
Decreased proportion of CD4-positive T cells, Acute myeloid leukemia, Abscess, Recurrent tonsilli... |
ORPHA:125 |
Chronic Actinic Dermatitis |
|
Late onset atopic dermatitis, Eczema, Allergic rhinitis, Pruritus, Hypopigmented skin patches, Er... |
ORPHA:330064 |
Cutaneous Collagenous Vasculopathy |
|
Prominent superficial blood vessels, Erythema, Diffuse telangiectasia, Bruising susceptibility, V... |
ORPHA:280779 |
Erythrokeratodermia Variabilis Et Progressiva 3 |
|
Hypergranulosis, Erythema, Hyperkeratosis, Palmoplantar keratoderma, Orthokeratosis |
OMIM:617525 |
Myeloproliferative Syndrome, Transient |
|
Leukocytosis, Transient myeloproliferative syndrome |
OMIM:159595 |
Hypohidrotic Ectodermal Dysplasia |
|
Failure to thrive, Sinusitis, Eczema, Hyperkeratosis, Keratoconjunctivitis sicca, Thin skin, Dry ... |
ORPHA:238468 |
Anemia, Congenital Dyserythropoietic, Type Ib |
|
Reticulocytosis, Hepatomegaly, Anisocytosis, Anemia of inadequate production, Splenomegaly, Jaund... |
OMIM:615631 |
Letterer-Siwe Disease |
|
Seborrheic dermatitis, Hepatosplenomegaly, Anemia, Pallor, Neutropenia, Stomatitis, Thrombocytopenia |
OMIM:246400 |
Eosinophilopenia |
|
Decreased eosinophil count, Autoimmunity, Allergic rhinitis |
OMIM:131430 |
Autoimmune Disease, Multisystem, Infantile-Onset, 1 |
|
Autoimmune hemolytic anemia, Autoimmunity, Eczema, Autoimmune thrombocytopenia, Recurrent upper r... |
OMIM:615952 |
Rhizomelic Chondrodysplasia Punctata |
|
Rhizomelia, Short stature, Growth delay, Ichthyosis, Dry skin |
ORPHA:177 |
Hypereosinophilic Syndrome, Idiopathic |
|
Myeloproliferative disorder, Splenomegaly, Eosinophilia, Hepatomegaly |
OMIM:607685 |
Severe Hereditary Thrombophilia Due To Congenital Protein S Deficiency |
|
Aplasia/Hypoplasia of the skin, Thin skin, Skin ulcer, Purpura |
ORPHA:743 |
Quinquaud Folliculitis Decalvans |
|
Erythema |
ORPHA:346 |
Lig4 Syndrome |
|
Hepatomegaly, Pancytopenia, Telangiectasia of the skin, Cryptorchidism, Leukocytosis, Erythema, L... |
ORPHA:99812 |
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis |
|
Neutrophilia, Osteomyelitis, Skin rash, Elevated circulating C-reactive protein concentration, Ab... |
OMIM:612852 |
Epidermolysis Bullosa Simplex 2E, With Migratory Circinate Erythema |
|
Erythema migrans |
OMIM:609352 |
Erythema Palmare Hereditarium |
|
Erythema |
OMIM:133000 |
Benign Chronic Pemphigus |
|
Erythema |
OMIM:169600 |
Annular Erythema |
|
Erythema |
OMIM:106500 |
Acrodermatitis Enteropathica |
|
Failure to thrive, Short stature, Pustule, Erythema, Cheilitis, Skin ulcer, Weight loss, Conjunct... |
ORPHA:37 |
Subcorneal Pustular Dermatosis |
|
Erythema, Increased circulating antibody level |
ORPHA:48377 |
Immunodeficiency 26 With Or Without Neurologic Abnormalities |
|
T lymphocytopenia, B lymphocytopenia, Abnormal natural killer cell morphology |
OMIM:615966 |
Keratosis Pilaris Atrophicans |
|
Erythema |
OMIM:604093 |
Dyskeratosis Congenita |
|
Macule, Aplasia/Hypoplasia of the skin, Short stature, Hypermelanotic macule, Abnormality of neut... |
ORPHA:1775 |
Erythema Elevatum Diutinum |
|
Skin vesicle, Increased circulating antibody level, Vasculitis in the skin |
ORPHA:90000 |
Hypotrichosis 6 |
|
Pruritus, Erythema, Follicular hyperkeratosis |
OMIM:607903 |
Proteasome-Associated Autoinflammatory Syndrome 1 |
|
Hepatomegaly, Increased circulating interleukin 6 concentration, Increased circulating interleuki... |
OMIM:256040 |
Idiopathic Acute Eosinophilic Pneumonia |
|
Abnormal eosinophil morphology |
ORPHA:724 |
Autoinflammation With Infantile Enterocolitis |
|
Pancytopenia, Failure to thrive, Reduced natural killer cell activity, Splenomegaly, Anemia, Urti... |
OMIM:616050 |
Immunodeficiency 12 |
|
Decreased lymphocyte proliferation in response to anti-CD3, Absent isohemagglutinin level, Comple... |
OMIM:615468 |
Tularemia |
|
Brain abscess, Abnormal nasopharyngeal adenoid morphology, Leukocytosis, Mediastinal lymphadenopa... |
ORPHA:3392 |
Neutrophil Immunodeficiency Syndrome |
|
Leukocytosis, Abnormality of neutrophil physiology |
ORPHA:183707 |
Leukocyte Adhesion Deficiency, Type I |
|
Osteomyelitis, Elevated circulating C-reactive protein concentration, Leukocytosis, Chronic mucoc... |
OMIM:116920 |
Keratoderma Hereditarium Mutilans |
|
Hyperkeratosis, Papule, Honeycomb palmoplantar hyperkeratosis, Ichthyosis |
ORPHA:494 |
Chromomycosis |
|
Erythematous macule, Pruritus, Keratitis, Hyperparakeratosis, Subcutaneous nodule, Verrucous papu... |
ORPHA:182 |
Bone Marrow Failure Syndrome 2 |
|
Anemia, Leukopenia, Bone marrow hypocellularity, Cutaneous photosensitivity, Thrombocytopenia |
OMIM:615715 |
Olmsted Syndrome, X-Linked |
|
Subungual hyperkeratosis, Parakeratosis, Posterior blepharitis, Palmoplantar hyperkeratosis, Hype... |
OMIM:300918 |
Spinocerebellar Ataxia Type 34 |
|
Macule, Dry skin, Papule |
ORPHA:1955 |
Immunoneurologic Disorder, X-Linked |
|
Neonatal death, Decreased circulating IgG2 level, Small for gestational age |
OMIM:300076 |
Gastrointestinal Defects And Immunodeficiency Syndrome 1 |
|
Impaired lymphocyte transformation with phytohemagglutinin, Autoimmune hemolytic anemia, Leukocyt... |
OMIM:243150 |
Immunodeficiency 59 And Hypoglycemia |
|
Hepatomegaly, Complete or near-complete absence of specific antibody response to unconjugated pne... |
OMIM:233600 |
Epidermolysis Bullosa Simplex With Mottled Pigmentation |
|
Plantar hyperkeratosis, Hypermelanotic macule, Spotty hypopigmentation, Hypomelanotic macule, Pal... |
ORPHA:79397 |
Retinal Dystrophy, Iris Coloboma, And Comedogenic Acne Syndrome |
|
Comedonal acne, Decreased retinol-binding protein level, Follicular hyperkeratosis |
OMIM:615147 |
Reticuloendotheliosis, X-Linked |
|
Hepatosplenomegaly, Jaundice, Anemia, Lymphadenopathy |
OMIM:312500 |
Chronic Myeloid Leukemia |
|
Splenomegaly, Leukocytosis, Abnormal granulocyte morphology, Myeloproliferative disorder, Thrombo... |
ORPHA:521 |
Felty Syndrome |
|
Sinusitis, Sepsis, Neutropenia, Chronic otitis media, Abnormal lymphocyte morphology, Recurrent p... |
ORPHA:47612 |
Cole Disease |
|
Hypopigmented macule, Hypergranulosis, Punctate palmoplantar hyperkeratosis, Hyperkeratosis, Palm... |
OMIM:615522 |
Immunodeficiency 40 |
|
Hepatomegaly, Eosinophilic granuloma, T lymphocytopenia, Macrovesicular hepatic steatosis, Reduce... |
OMIM:616433 |
Epidermodysplasia Verruciformis, Susceptibility To, 5 |
|
T lymphocytopenia, Lymphopenia |
OMIM:618309 |
Graft Versus Host Disease |
|
Jaundice, Lymphadenopathy, Chronic hepatitis, Hepatosplenomegaly, Scaling skin, Hemophagocytosis,... |
ORPHA:39812 |
Flynn-Aird Syndrome |
|
Hyperkeratosis, Dermal atrophy |
OMIM:136300 |
Acquired Partial Lipodystrophy |
|
Autoimmunity, Lymphocytosis |
ORPHA:79087 |
Acrokeratosis Verruciformis Of Hopf |
|
Parakeratosis, Hypergranulosis, Acantholysis, Skin-colored papule, Punctate palmoplantar hyperker... |
ORPHA:79151 |
Angioma Serpiginosum, X-Linked |
|
Hyperkeratosis |
OMIM:300652 |
Wiskott-Aldrich Syndrome |
|
Abnormal eosinophil morphology, Sinusitis, Microcytic anemia, Inflammation of the large intestine... |
ORPHA:906 |
Hyperpigmentation With Or Without Hypopigmentation, Familial Progressive |
|
Hypermelanotic macule, Hypopigmented skin patches, Hyperkeratosis, Multiple lentigines, Cafe-au-l... |
OMIM:145250 |
Hypothyroidism, Congenital, Nongoitrous, 4 |
|
Severe postnatal growth retardation, Dry skin |
OMIM:275100 |
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency |
|
Eczema, Elevated circulating creatine kinase concentration, Splenomegaly, Leukocytosis, Lymphaden... |
OMIM:615895 |
Bloom Syndrome |
|
Small for gestational age, Elevated hemoglobin A1c, Cryptorchidism, Facial erythema, Decreased ci... |
OMIM:210900 |
Inflammatory Bowel Disease (Infantile Ulcerative Colitis) 31, Autosomal Recessive |
|
Leukocytosis, Anemia |
OMIM:619398 |
Syndromic Diarrhea |
|
Hepatomegaly, Lymphopenia, Small for gestational age, Increased mean platelet volume, Splenomegal... |
ORPHA:84064 |
Osteopetrosis, Autosomal Recessive 2 |
|
Pancytopenia, Extramedullary hematopoiesis, Osteomyelitis, Mandibular osteomyelitis, Hepatospleno... |
OMIM:259710 |
Hemophagocytic Syndrome Associated With An Infection |
|
Opportunistic bacterial infection, Neutropenia, Abnormal cytokine signaling, Severe cytomegalovir... |
ORPHA:158048 |
Porphyria Cutanea Tarda |
|
Viral hepatitis, Poor wound healing, Hepatocellular carcinoma, Abnormal erythrocyte enzyme level,... |
ORPHA:101330 |
Flynn-Aird Syndrome |
|
Cachexia, Dermal atrophy, Skin ulcer |
ORPHA:2047 |
Immunodeficiency, Common Variable, 4 |
|
Decreased circulating total IgM, Complete or near-complete absence of specific antibody response ... |
OMIM:613494 |
Maternal Uniparental Disomy Of Chromosome 1 |
|
Hepatomegaly, Pancytopenia, Panhypogammaglobulinemia |
ORPHA:251009 |
Incontinentia Pigmenti |
|
Skin rash, Eosinophilia, Short stature, Keratitis, Erythema, Hypopigmented skin patches, Uveitis,... |
ORPHA:464 |
Immunodeficiency 69 |
|
Pancytopenia, Skin rash, Splenomegaly, Leukocytosis, Increased circulating ferritin concentration... |
OMIM:618963 |
Hereditary Folate Malabsorption |
|
Pancytopenia, Eosinophilia, Megaloblastic anemia, Decreased circulating antibody level, Thrombocy... |
ORPHA:90045 |
Vohwinkel Syndrome, Variant Form |
|
Parakeratosis, Hypergranulosis, Honeycomb palmoplantar hyperkeratosis, Hyperkeratosis, Orthokerat... |
OMIM:604117 |
Irida Syndrome |
|
Hyperkeratosis, Pallor, Ichthyosis |
ORPHA:209981 |
Common Variable Immunodeficiency |
|
Hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Decreased circulating antibody level... |
ORPHA:1572 |
Sydenham Chorea |
|
Erythema |
ORPHA:306731 |
Primary Biliary Cholangitis |
|
Portal hypertension, Increased circulating IgA level, Jaundice, Biliary cirrhosis, Hepatitis, Abn... |
ORPHA:186 |
Majeed Syndrome |
|
Inflammatory abnormality of the skin, Osteomyelitis, Skin rash, Anemia of inadequate production, ... |
OMIM:609628 |
Epidermolysis Bullosa Simplex With Circinate Migratory Erythema |
|
Parakeratosis, Pruritus, Palmoplantar hyperkeratosis, Erythema migrans, Skin vesicle |
ORPHA:158681 |
Bare Lymphocyte Syndrome, Type I |
|
Chronic otitis media, Chronic sinusitis, Bronchiectasis, Skin ulcer |
OMIM:604571 |
Immunodeficiency 7 |
|
Chronic oral candidiasis, Autoimmune hemolytic anemia, Recurrent respiratory infections, Autoimmu... |
OMIM:615387 |
Catastrophic Antiphospholipid Syndrome |
|
Myocarditis, Skin ulcer, Arthritis, Coombs-positive hemolytic anemia, Microangiopathic hemolytic ... |
ORPHA:464343 |
Neutropenia, Severe Congenital, 4, Autosomal Recessive |
|
Failure to thrive, Intermittent thrombocytopenia, Perianal abscess, Erythroid hypoplasia, Thrombo... |
OMIM:612541 |
Primary Sjögren Syndrome |
|
Normocytic anemia, Chronic active hepatitis, Leukopenia, Decreased circulating complement C4 conc... |
ORPHA:289390 |
Proteasome-Associated Autoinflammatory Syndrome 4 |
|
Hepatomegaly, Autoimmune hemolytic anemia, Splenomegaly, Erythema, Lymphadenopathy |
OMIM:619183 |
Beta-Mercaptolactate Cysteine Disulfiduria |
|
Dry skin, Short stature, Obesity |
ORPHA:1035 |
Reynolds Syndrome |
|
Skin rash, Pruritus, Skin ulcer, Arthritis, Keratoconjunctivitis sicca, Infectious encephalitis, ... |
ORPHA:779 |
Immunodeficiency 94 With Autoinflammation And Dysmorphic Facies |
|
Hepatosplenomegaly, Decreased circulating antibody level, Lymphadenopathy, Microcytic anemia |
OMIM:619750 |
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome |
|
Hepatomegaly, Lymphopenia, Decreased proportion of CD8-positive T cells, Increased circulating Ig... |
ORPHA:508533 |
Keratosis Linearis With Ichthyosis Congenita And Sclerosing Keratoderma |
|
Parakeratosis, Linear arrays of macular hyperkeratoses in flexural areas, Honeycomb palmoplantar ... |
OMIM:601952 |
Immunodeficiency 88 |
|
Eosinophilia |
OMIM:619630 |
Familial Melanoma |
|
Neoplasm of the pancreas, Dry skin, Abnormality of the lymphatic system |
ORPHA:618 |
Syndromic Recessive X-Linked Ichthyosis |
|
Hyperkeratosis, Ichthyosis, Short stature, Acute leukemia |
ORPHA:281090 |
Ectodermal Dysplasia/Skin Fragility Syndrome |
|
Scaling skin, Palmoplantar hyperkeratosis |
OMIM:604536 |
Good Syndrome |
|
Abnormal leukocyte morphology, Mediastinal lymphadenopathy, Thymoma, Decreased circulating antibo... |
ORPHA:169105 |
Cryoglobulinemic Vasculitis |
|
Viral hepatitis, Splenomegaly, Skin ulcer, Arthritis, Keratoconjunctivitis sicca, Petechiae, Purpura |
ORPHA:91138 |
Cancer, Alopecia, Pigment Dyscrasia, Onychodystrophy, And Keratoderma |
|
Dry skin, Multinodular goiter, Scaling skin, Palmoplantar keratoderma |
OMIM:618373 |
Keratolytic Winter Erythema |
|
Erythema |
ORPHA:50943 |
Werner Syndrome |
|
Aplasia/Hypoplasia of the skin, Short stature, Lack of skin elasticity, Skin ulcer, Hyperkeratosi... |
ORPHA:902 |
T-Cell Lymphoma, Subcutaneous Panniculitis-Like |
|
Pancytopenia, Hypertriglyceridemia, Autoimmunity, Splenomegaly, Increased circulating ferritin co... |
OMIM:618398 |
Ichthyosis, Congenital, Autosomal Recessive 3 |
|
Erythema, Hyperkeratosis, Palmoplantar keratoderma, Congenital nonbullous ichthyosiform erythrode... |
OMIM:606545 |
Snakebite Envenomation |
|
Angioedema, Erythema, Ecchymosis, Hypopituitarism, Thrombocytopenia |
ORPHA:449285 |
Celiac Disease, Susceptibility To, 1 |
|
Iron deficiency anemia, Macrocytic anemia, Thrombocytosis, Decreased circulating IgA level |
OMIM:212750 |
Spinocerebellar Ataxia 34 |
|
Erythroderma, Epidermal hyperkeratosis |
OMIM:133190 |
Seborrhea-Like Dermatitis With Psoriasiform Elements |
|
Hyperkeratosis, Seborrheic dermatitis |
OMIM:610227 |
Myeloproliferative Disorder, Chronic, With Eosinophilia |
|
Eosinophilia, Myeloproliferative disorder |
OMIM:131440 |
Dyskeratosis Congenita, Autosomal Dominant 3 |
|
Pancytopenia, Aplastic anemia, Cryptorchidism, Premature graying of hair, Leukopenia, Bone marrow... |
OMIM:613990 |
Rasmussen Subacute Encephalitis |
|
Decreased circulating total IgA |
ORPHA:1929 |
Lipoid Proteinosis |
|
Acne, Pustule, Thickened skin, Subcutaneous nodule, Hyperkeratosis, Papule |
ORPHA:530 |
Darier-White Disease |
|
Hypermelanotic macule, Acrokeratosis, Acantholysis, Pruritus, Palmar pits, Plantar pits, Subungua... |
OMIM:124200 |
Pityriasis Rubra Pilaris |
|
Subungual hyperkeratosis, Parakeratosis, Hypergranulosis, Erythematous plaque, Palmoplantar kerat... |
OMIM:173200 |
Bleeding Disorder, Platelet-Type, 16 |
|
Thrombocytopenia, Giant platelets, Macrothrombocytopenia, Platelet anisocytosis, Anemia, Impaired... |
OMIM:187800 |
Neutropenia, Severe Congenital, X-Linked |
|
Eczema, Recurrent bacterial infections, Neutropenia, Monocytopenia, Decreased CD4:CD8 ratio |
OMIM:300299 |
Immunodeficiency, Common Variable, 10 |
|
Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level |
OMIM:615577 |
Progressive Multifocal Leukoencephalopathy |
|
Decreased proportion of CD8-positive T cells, Meningitis, Abnormal proportion of CD4-positive T c... |
ORPHA:217260 |
Nodular Non-Suppurative Panniculitis |
|
Splenomegaly, Hepatomegaly, Erythema, Weight loss |
ORPHA:33577 |
Neuropathy, Hereditary Sensory, Type If |
|
Hyperkeratosis, Osteomyelitis |
OMIM:615632 |
Igg4-Related Dacryoadenitis And Sialadenitis |
|
Increased circulating IgG4 level, Increased circulating IgA level, Retroperitoneal fibrosis, Enla... |
ORPHA:79078 |
Microcephalic Primordial Dwarfism, Montreal Type |
|
Severe short stature, Dry skin, Shagreen patch |
ORPHA:2617 |
Limited Cutaneous Systemic Sclerosis |
|
Hypopigmented skin patches, Skin ulcer |
ORPHA:220402 |
Ddost-Cdg |
|
Failure to thrive, Dry skin, Short stature |
ORPHA:300536 |
Infantile Cataract, Skin Abnormalities, Glutamate Excess, And Impaired Intellectual Development |
|
Hyperkeratosis, Parakeratosis, Subcutaneous nodule |
OMIM:618339 |
Xeroderma Pigmentosum Variant |
|
Keratitis, Dry skin, Dermal atrophy |
ORPHA:90342 |
Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia |
|
Enteroviral hepatitis, Panhypogammaglobulinemia, Absent circulating B cells |
OMIM:307200 |
Kyphoscoliotic Ehlers-Danlos Syndrome Due To Fkbp22 Deficiency |
|
Atrophic scars, Elevated circulating creatine kinase concentration, Follicular hyperkeratosis |
ORPHA:300179 |
Epilepsy-Telangiectasia Syndrome |
|
Decreased circulating IgA level, Decreased circulating antibody level |
ORPHA:1951 |
Hereditary Acrokeratotic Poikiloderma |
|
Short stature, Eczema, Pustule, Erythema, Hypopigmented skin patches, Palmoplantar hyperkeratosis... |
ORPHA:2907 |
Brooke-Spiegler Syndrome |
|
Skin-colored papule, Skin nodule, Skin ulcer, Nodular changes affecting the eyelids |
ORPHA:79493 |
Acute Erythroid Leukemia |
|
Pancytopenia, Erythroid hypoplasia, Leukopenia, Bone marrow hypocellularity, Anemia |
ORPHA:318 |
Erythroderma, Lethal Congenital |
|
Congenital exfoliative erythroderma, Failure to thrive, Hypoalbuminemia |
OMIM:227090 |
Aicardi-Goutieres Syndrome 9 |
|
Hemolytic anemia, Acute pancreatitis, Pericarditis, Failure to thrive, Chilblains, Hepatosplenome... |
OMIM:619487 |
Oslam Syndrome |
|
Increased mean corpuscular volume, Short stature, Abnormality of neutrophils |
ORPHA:2760 |
C1Q Deficiency 1 |
|
Membranoproliferative glomerulonephritis, Recurrent infections, Autoimmunity, Systemic lupus eryt... |
OMIM:613652 |
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities |
|
Acanthosis nigricans, Dry skin, Short stature, Small for gestational age |
OMIM:262190 |
Brucellosis |
|
Hepatomegaly, Liver abscess, Small for gestational age, Lung abscess, Hypersplenism, Thrombocytop... |
ORPHA:1304 |
Aicardi-Goutieres Syndrome 1 |
|
Hepatomegaly, Thrombocytopenia, Splenomegaly, Erythema, Prolonged neonatal jaundice, Acrocyanosis... |
OMIM:225750 |
Postinfectious Vasculitis |
|
Viral hepatitis, Palpable purpura, Cutis marmorata, Increased circulating IgA level, Orchitis, We... |
ORPHA:48435 |
Congenital Bile Acid Synthesis Defect Type 2 |
|
Postnatal growth retardation, Giant cell hepatitis, Failure to thrive, Extramedullary hematopoiesis |
ORPHA:79303 |
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency |
|
Agammaglobulinemia, Abnormality of the pancreas, Lymphopenia, Anemia |
ORPHA:935 |
Noonan Syndrome 8 |
|
Short stature, Eczema, Large for gestational age, Hyperkeratosis, Palmoplantar cutis laxa, Failur... |
OMIM:615355 |
Microscopic Polyangiitis |
|
Episcleritis, Increased inflammatory response, Pericarditis, Sinusitis, Skin rash, Peritonitis, S... |
ORPHA:727 |
Granulomatosis With Polyangiitis |
|
Episcleritis, Sinusitis, Keratitis, Uveitis, Skin ulcer, Weight loss, Granulomatosis, Conjunctivi... |
OMIM:608710 |
Lipodystrophy, Congenital Generalized, Type 4 |
|
Hepatomegaly, Splenomegaly, Hepatic steatosis, Decreased circulating IgA level |
OMIM:613327 |
Immunodeficiency 61 |
|
Agammaglobulinemia, Decreased circulating total IgM, Decreased circulating IgG2 level, Decreased ... |
OMIM:300310 |
Ichthyosis, Congenital, Autosomal Recessive 2 |
|
Hypergranulosis, Erythema, Growth delay, Hyperkeratosis, Congenital ichthyosiform erythroderma, P... |
OMIM:242100 |
Systemic Lupus Erythematosus |
|
Hemolytic anemia, Pericarditis, Antiphospholipid antibody positivity, Lupus nephritis, Antinuclea... |
OMIM:152700 |
Ectodermal Dysplasia With Mental Retardation And Syndactyly |
|
Dry skin, Aplasia cutis congenita of scalp |
OMIM:600906 |
Leopard Syndrome 2 |
|
Cafe-au-lait spot, Dry skin, Multiple lentigines, Short stature |
OMIM:611554 |
Dermoodontodysplasia |
|
Dry skin, Thin skin, Melanocytic nevus |
ORPHA:1660 |
Warty Dyskeratoma |
|
Acrokeratosis, Umbilicated nodule, Skin-colored papule, Acantholysis, Localized skin lesion, Epid... |
ORPHA:69745 |
Bone Marrow Failure Syndrome 5 |
|
Anemia, Erythroid hypoplasia, Pure red cell aplasia, Decreased circulating antibody level |
OMIM:618165 |
Pearson Marrow-Pancreas Syndrome |
|
Sideroblastic anemia, Hepatomegaly, Pancytopenia, Pancreatic fibrosis, Failure to thrive, Small f... |
OMIM:557000 |
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form |
|
Erythema, Decreased circulating antibody level, Failure to thrive, Generalized abnormality of ski... |
ORPHA:79396 |
Tangier Disease |
|
Splenomegaly, Hepatomegaly, Dry skin |
OMIM:205400 |
Immunoskeletal Dysplasia With Neurodevelopmental Abnormalities |
|
Lymphopenia, Eosinophilia, Hepatic cysts, Decreased circulating antibody level |
OMIM:617425 |
Cystic Echinococcosis |
|
Abnormal peritoneum morphology, Hepatomegaly, Hepatic cysts, Eosinophilia, Abscess, Abnormality o... |
ORPHA:400 |
Olmsted Syndrome 2 |
|
Parakeratosis, Pruritus, Perioral hyperkeratosis, Cheilitis, Palmoplantar hyperkeratosis, Hyperke... |
OMIM:619208 |
Hennekam-Beemer Syndrome |
|
Telangiectasia of the skin, Erythema, Urticaria, Skin vesicle, Mastocytosis, Failure to thrive |
ORPHA:2135 |
Mycosis Fungoides |
|
Erythema, Lymphadenopathy |
OMIM:254400 |
Naegeli-Franceschetti-Jadassohn Syndrome |
|
Subungual hyperkeratosis, Punctate palmoplantar hyperkeratosis, Palmoplantar hyperkeratosis, Dry ... |
ORPHA:69087 |
Odontoonychodermal Dysplasia |
|
Plantar hyperkeratosis, Hypergranulosis, Erythema, Palmoplantar hyperkeratosis, Follicular hyperk... |
OMIM:257980 |
Trichothiodystrophy 7, Nonphotosensitive |
|
Congenital nonbullous ichthyosiform erythroderma, Follicular hyperkeratosis, Ichthyosis |
OMIM:618546 |
Familial Multiple Nevi Flammei |
|
Nevus flammeus, Skin ulcer, Hypermelanotic macule, Papule |
ORPHA:624 |
Hypercarotenemia And Vitamin A Deficiency, Autosomal Recessive |
|
Follicular hyperkeratosis |
OMIM:277350 |
Dermatoosteolysis, Kirghizian Type |
|
Keratitis, Osteoarthritis, Aplasia/Hypoplasia of the skin, Skin ulcer |
ORPHA:1657 |
Refractory Celiac Disease |
|
Normocytic anemia, Macrocytic anemia, Inflammatory abnormality of the skin, Microcytic anemia, In... |
ORPHA:398063 |
Thymoma |
|
Myositis, Aplastic anemia, Autoimmunity, Pure red cell aplasia, Abnormal lymphocyte physiology, A... |
ORPHA:99867 |
Juvenile Dermatomyositis |
|
Myositis, Pericarditis, Skin rash, Elevated circulating creatine kinase concentration, Elevated c... |
ORPHA:93672 |
Copper Deficiency, Familial Benign |
|
Failure to thrive, Anemia, Seborrheic dermatitis |
OMIM:121270 |
Generalized Eruptive Histiocytosis |
|
Leukemia, Hypereosinophilia, Lymphadenopathy, Histiocytosis |
ORPHA:157991 |
Proteasome-Associated Autoinflammatory Syndrome 3 |
|
Hepatomegaly, Failure to thrive, Thrombocytopenia, Splenomegaly, Lymphadenopathy, Increased circu... |
OMIM:617591 |
Hypotrichosis With Juvenile Macular Degeneration |
|
Hyperkeratosis, Short stature, Melanocytic nevus |
ORPHA:1573 |
Congenital Disorder Of Glycosylation, Type Ia |
|
Hepatomegaly, Hepatic fibrosis, Thrombocytosis, Decreased circulating IgG level, Hepatic steatosi... |
OMIM:212065 |
Xeroderma Pigmentosum |
|
Macule, Failure to thrive, Short stature, Hypermelanotic macule, Keratitis, Thickened skin, Eryth... |
ORPHA:910 |
Drug-Induced Lupus Erythematosus |
|
Pericarditis, Elevated circulating creatine kinase concentration, Elevated circulating C-reactive... |
ORPHA:231111 |
Noonan Syndrome 5 |
|
Short stature, Large for gestational age, Dry skin, Multiple lentigines, Nevus, Cafe-au-lait spot |
OMIM:611553 |
Mal De Meleda |
|
Perioral erythema |
OMIM:248300 |
Granulomatous Disease, Chronic, Autosomal Recessive, 5 |
|
Hemolytic anemia, Acute pancreatitis, Rheumatoid factor positive, Abscess, Eczema, Perianal absce... |
OMIM:618935 |
Blau Syndrome |
|
Pericarditis, Skin rash, Keratitis, Splenomegaly, Retrobulbar optic neuritis, Erythema nodosum, I... |
ORPHA:90340 |
Bone Marrow Failure Syndrome 3 |
|
Acute myeloid leukemia, Pancytopenia, Aplastic anemia, Eczema, Short stature, Thrombocytopenia, P... |
OMIM:617052 |
Ichthyosis-Prematurity Syndrome |
|
Eosinophilia |
ORPHA:88621 |
Adiposis Dolorosa |
|
Recurrent skin infections, Subcutaneous nodule, Obesity, Arthritis, Dry skin |
ORPHA:36397 |
Obesity Due To Congenital Leptin Deficiency |
|
Hypertriglyceridemia, Recurrent upper respiratory tract infections, Pituitary hypothyroidism, Hyp... |
ORPHA:66628 |
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia |
|
Skin rash, Elevated circulating C-reactive protein concentration, Antinuclear antibody positivity... |
OMIM:617718 |
Kid Syndrome |
|
Angular cheilitis, Posterior blepharitis, Scarring alopecia of scalp, Recurrent cutaneous fungal ... |
ORPHA:477 |
Congenital Heart Defects And Ectodermal Dysplasia |
|
Dry skin, Thin skin |
OMIM:617364 |
Focal Facial Dermal Dysplasia Type Iv |
|
Abnormal epidermal morphology, Abnormal mast cell morphology |
ORPHA:398189 |
X-Linked Dominant Chondrodysplasia Punctata |
|
Short stature, Scarring alopecia of scalp, Ichthyosis, Erythematous plaque, Severe postnatal grow... |
ORPHA:35173 |
Retinitis Pigmentosa, Deafness, Mental Retardation, And Hypogonadism |
|
Acanthosis nigricans, Dry skin, Short stature |
OMIM:268020 |
Thyroid Dyshormonogenesis 1 |
|
Growth delay, Dry skin |
OMIM:274400 |
Idiopathic Hypereosinophilic Syndrome |
|
Cholangitis, Colitis, Pallor, Papule, Neutrophilia, Leukocytosis, Hepatosplenomegaly, Chronic hep... |
ORPHA:3260 |
21Q22.11Q22.12 Microdeletion Syndrome |
|
Sacral dimple, Short stature, Failure to thrive in infancy, Postnatal growth retardation, Anemia,... |
ORPHA:261323 |
Neurodevelopmental Disorder With Hypotonia, Dysmorphic Facies, And Skin Abnormalities |
|
Dry skin, Eczema, Obesity |
OMIM:620191 |
Cardiomyopathy, Dilated, With Woolly Hair And Keratoderma |
|
Acantholysis, Palmoplantar hyperkeratosis, Palmoplantar scaling skin, Palmoplantar keratoderma, P... |
OMIM:605676 |
Hypertrophic Osteoarthropathy, Primary, Autosomal Recessive, 1 |
|
Redundant skin, Seborrheic dermatitis, Erythema, Palmoplantar hyperkeratosis, Arthritis, Eczemato... |
OMIM:259100 |
Palmoplantar Keratoderma And Congenital Alopecia 1 |
|
Palmoplantar erythema, Plantar hyperkeratosis, Palmoplantar keratoderma, Epidermal hyperkeratosis |
OMIM:104100 |
Congenital Disorder Of Glycosylation, Type Iib |
|
Hepatomegaly, Decreased circulating IgA level, Decreased circulating antibody level |
OMIM:606056 |
Nevoid Hypermelanosis, Linear And Whorled |
|
Eosinophilia |
OMIM:614323 |
Osteopetrosis, Autosomal Recessive 5 |
|
Pancytopenia, Extramedullary hematopoiesis, Short stature, Splenomegaly, Leukocytosis, Hypochromi... |
OMIM:259720 |
Infantile Systemic Hyalinosis |
|
Severe short stature, Thickened skin, Subcutaneous nodule, Skin ulcer, Growth delay, Failure to t... |
ORPHA:2176 |
Pachyonychia Congenita |
|
Epidermoid cyst, Angular cheilitis, Linear arrays of macular hyperkeratoses in flexural areas, Pa... |
ORPHA:2309 |
Familial Isolated Dilated Cardiomyopathy |
|
Abnormality of neutrophils |
ORPHA:154 |
Obesity Due To Leptin Receptor Gene Deficiency |
|
Hypertriglyceridemia, Recurrent upper respiratory tract infections, Pituitary hypothyroidism, Hyp... |
ORPHA:179494 |
Gaucher Disease, Perinatal Lethal |
|
Petechiae, Splenomegaly, Hepatosplenomegaly, Anemia, Hyperkeratosis, Congenital nonbullous ichthy... |
OMIM:608013 |
Late-Onset Isolated Acth Deficiency |
|
Normocytic anemia, Hypoparathyroidism, Macrocytic anemia, Failure to thrive, Eosinophilia, Pituit... |
ORPHA:199299 |
Myalgia-Eosinophilia Syndrome Associated With Tryptophan |
|
Lymphopenia, Eosinophilia |
ORPHA:2582 |
Granulomatosis With Polyangiitis |
|
Increased inflammatory response, Pericarditis, Sinusitis, Skin rash, Elevated circulating C-react... |
ORPHA:900 |
Gaucher Disease Type 1 |
|
Hepatomegaly, Pancytopenia, Hypersplenism, Thrombocytopenia, Splenomegaly, Leukopenia, Increased ... |
ORPHA:77259 |
Autosomal Recessive Hypohidrotic Ectodermal Dysplasia |
|
Dry skin |
ORPHA:248 |
Fucosidosis |
|
Hepatomegaly, Failure to thrive, Angiokeratoma, Splenomegaly, Vacuolated lymphocytes, Bruising su... |
OMIM:230000 |
Cervical Hypertrichosis-Peripheral Neuropathy Syndrome |
|
Osteomyelitis, Skin ulcer |
ORPHA:2218 |
Diffuse Alveolar Hemorrhage |
|
Antiphospholipid antibody positivity, Rheumatoid factor positive, Autoimmunity, Antinuclear antib... |
ORPHA:90060 |
Preeclampsia |
|
Helicobacter pylori infection, Autoimmunity, Elevated circulating creatinine concentration, Polyc... |
ORPHA:275555 |
Ectodermal Dysplasia-Syndactyly Syndrome 2 |
|
Palmoplantar keratoderma, Follicular hyperkeratosis, Congenital bullous ichthyosiform erythroderma |
OMIM:613576 |
Ramon Syndrome |
|
Hyperkeratosis, Failure to thrive |
ORPHA:3019 |
O'Sullivan-Mcleod Syndrome |
|
Increased circulating antibody level, Eosinophilia |
ORPHA:99965 |
Distal Duplication 6P |
|
Intrauterine growth retardation, Sacral dimple, Dry skin, Short stature |
ORPHA:1745 |
X-Linked Sideroblastic Anemia |
|
Splenomegaly, Pallor, Anemia |
ORPHA:75563 |
Uremic Pruritus |
|
Inflammatory abnormality of the skin, Recurrent skin infections, Pruritus, Dry skin, Abnormality ... |
ORPHA:94059 |
Ectodermal Dysplasia 10A, Hypohidrotic/Hair/Nail Type, Autosomal Dominant |
|
Ectodermal dysplasia, Dry skin |
OMIM:129490 |
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs |
|
Goiter, Dry skin, Large for gestational age, Prolonged neonatal jaundice |
ORPHA:226313 |
Elastoderma |
|
Eczema, Skin nodule, Cutis laxa, Premature skin wrinkling, Erysipelas, Papule |
ORPHA:228240 |
Kikuchi-Fujimoto Disease |
|
Hepatomegaly, Generalized lymphadenopathy, Thrombocytopenia, Cervical lymphadenopathy, Erythema, ... |
ORPHA:50918 |
Epidermodysplasia Verruciformis |
|
Recurrent skin infections, Seborrheic dermatitis, Pustule, Hypopigmented skin patches, Multiple c... |
ORPHA:302 |
Immunodeficiency 49 |
|
Impaired lymphocyte transformation with phytohemagglutinin, Psoriasiform dermatitis, Eosinophilia... |
OMIM:617237 |
Overlap Myositis |
|
Autoimmunity, Elevated circulating creatine kinase concentration, Antinuclear antibody positivity... |
ORPHA:206572 |
Congenital Disorder Of Glycosylation, Type Ig |
|
Decreased circulating total IgM, Patent ductus arteriosus, Decreased circulating IgG level, Decre... |
OMIM:607143 |
19Q13.11 Microdeletion Syndrome |
|
Failure to thrive, Cachexia, Growth delay, Thin skin, Aplasia cutis congenita, Dry skin, Intraute... |
ORPHA:217346 |
Autosomal Agammaglobulinemia |
|
Agammaglobulinemia, Hepatitis, Neutropenia |
ORPHA:33110 |
Erythroleukemia, Familial, Susceptibility To |
|
Acute myeloid leukemia, Hepatomegaly, Splenomegaly, Anemia, Erythroid hyperplasia, Leukemia, Thro... |
OMIM:133180 |
Bacterial Toxic-Shock Syndrome |
|
Abscess, Peritonitis, Increased circulating myelocyte count, Hepatitis, Scaling skin, Ecchymosis,... |
ORPHA:36234 |
Juvenile Temporal Arteritis |
|
Leukocytosis, Eosinophilia |
ORPHA:26137 |
Igg4-Related Kidney Disease |
|
Eosinophilia, Increased circulating IgG4 level, Retroperitoneal fibrosis, Lymphadenitis, Abnormal... |
ORPHA:449395 |
Wells Syndrome |
|
Skin vesicle, Eosinophilia |
ORPHA:901 |
Palmoplantar Keratoderma I, Striate, Focal, Or Diffuse |
|
Hypergranulosis, Palmoplantar hyperkeratosis, Orthokeratotic hyperkeratosis, Palmoplantar keratod... |
OMIM:148700 |
Systemic-Onset Juvenile Idiopathic Arthritis |
|
Anterior uveitis, Pericarditis, Skin rash, Autoimmunity, Elevated circulating C-reactive protein ... |
ORPHA:85414 |
Xeroderma Pigmentosum, Complementation Group F |
|
Cutaneous photosensitivity, Erythema, Decreased body weight |
OMIM:278760 |
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency |
|
Reticulocytosis, Anisocytosis, Abnormal erythrocyte morphology, Reduced red cell pyruvate kinase ... |
ORPHA:766 |
Hemophagocytic Lymphohistiocytosis, Familial, 4 |
|
Hepatomegaly, Splenomegaly, Jaundice, Lymphadenopathy, Anemia, Hemophagocytosis, Neutropenia, Thr... |
OMIM:603552 |
Congenital Hypothyroidism Due To Transplacental Passage Of Tsh-Binding Inhibitory Antibodies |
|
Goiter, Dry skin, Prolonged neonatal jaundice |
ORPHA:95715 |
Aggressive Systemic Mastocytosis |
|
Pancytopenia, Portal hypertension, Hypersplenism, Thrombocytopenia, Leukocytosis, Hepatosplenomeg... |
ORPHA:98850 |
Neuropathy, Hereditary Sensory And Autonomic, Type Ic |
|
Osteomyelitis, Skin ulcer |
OMIM:613640 |
Bullous Pemphigoid |
|
Urticaria, Erythema, Weight loss |
ORPHA:703 |
Arthrogryposis And Ectodermal Dysplasia |
|
Atypical scarring of skin, Hyperkeratosis, Dry skin, Short stature |
OMIM:601701 |
Cardiofaciocutaneous Syndrome |
|
Short stature, Redundant skin, Failure to thrive in infancy, Excessive wrinkled skin, Hyperkerato... |
ORPHA:1340 |
Schimke Immuno-Osseous Dysplasia |
|
Impaired T cell function, Autoimmunity, Abnormal lymphocyte physiology, Minimal change glomerulon... |
ORPHA:1830 |
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome |
|
Abnormal lymphocyte morphology, Decreased circulating antibody level, Severe B lymphocytopenia, A... |
ORPHA:293978 |
Gamma-Heavy Chain Disease |
|
Recurrent respiratory infections, Autoimmune hemolytic anemia, Skin rash, Autoimmunity, Autoimmun... |
ORPHA:100026 |
Myoectodermal Gonadal Dysgenesis Syndrome |
|
Accessory spleen, Small for gestational age, Elevated circulating luteinizing hormone level, Scal... |
OMIM:618419 |
Pachydermoperiostosis |
|
Osteomyelitis, Acne, Seborrheic dermatitis, Splenomegaly, Thickened skin, Arthritis, Palmoplantar... |
ORPHA:2796 |
Familial Cold Autoinflammatory Syndrome 3 |
|
Dermatographic urticaria, Angioedema, Erythema, Cold urticaria |
OMIM:614468 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Nascimento Type |
|
Increased body weight, Dry skin, Spotty hypopigmentation |
OMIM:300860 |
Aregenerative Anemia |
|
Pancytopenia, Erythroid hypoplasia, Reticulocytopenia, Lymphadenopathy, Bone marrow hypocellulari... |
ORPHA:101096 |
Dermatomyositis |
|
Pericarditis, Abnormal eosinophil morphology, Aplasia/Hypoplasia of the skin, Pruritus, Myocardit... |
ORPHA:221 |
Rat-Bite Fever |
|
Parotitis, Lymphadenitis, Weight loss, Scaling skin, Pancreatitis, Anemia |
ORPHA:31205 |
Schimke Immunoosseous Dysplasia |
|
Pancytopenia, Abnormal immunoglobulin level, Abnormal T cell morphology, Anemia, Decreased circul... |
OMIM:242900 |
Singleton-Merten Syndrome 2 |
|
Hyperkeratosis, Psoriasiform lesion, Short stature |
OMIM:616298 |
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2 |
|
Acute myeloid leukemia, Pancytopenia, Anemia, Increased mean corpuscular volume, Bone marrow hypo... |
OMIM:619041 |
Macrocephaly-Intellectual Disability-Neurodevelopmental Disorder-Small Thorax Syndrome |
|
Decreased circulating IgA level |
ORPHA:457485 |
Mednik Syndrome |
|
Hyperkeratosis, Decreased circulating ceruloplasmin concentration, Ichthyosis |
ORPHA:171851 |
Renin-Angiotensin-Aldosterone System-Blocker-Induced Angioedema |
|
Urticaria, Angioedema, Erythema |
ORPHA:100057 |
Anemia, Hypochromic Microcytic, With Iron Overload 2 |
|
Hepatomegaly, Splenomegaly, Decreased mean corpuscular volume, Pallor, Poikilocytosis, Elevated h... |
OMIM:615234 |
Chromosome 19Q13.11 Deletion Syndrome, Distal |
|
Failure to thrive, Short stature, Postnatal growth retardation, Growth delay, Intrauterine growth... |
OMIM:613026 |
Leprosy |
|
Urticarial plaque, Hypopigmented macule, Abnormality of the spleen, Skin nodule, Verrucous papule... |
ORPHA:548 |
C3 Glomerulopathy |
|
Membranoproliferative glomerulonephritis, Autoimmunity, Paraproteinemia, Elevated circulating cre... |
ORPHA:329918 |
Refsum Disease |
|
Splenomegaly, Dry skin |
ORPHA:773 |
Familial Cold Urticaria |
|
Urticaria, Erythema |
ORPHA:47045 |
Leukocyte Adhesion Deficiency |
|
Sinusitis, Severe periodontitis, Conjunctivitis, Otitis media, Vaginitis, Polycythemia, Short sta... |
ORPHA:2968 |
Lambert Syndrome |
|
Jaundice, Intrahepatic biliary atresia, Cholestasis, Decreased circulating antibody level |
ORPHA:1296 |
Neuropathy, Hereditary Sensory And Autonomic, Type Iib |
|
Osteomyelitis, Acral ulceration |
OMIM:613115 |
Olmsted Syndrome 1 |
|
Subungual hyperkeratosis, Parakeratosis, Pruritus, Hyperparakeratosis, Periorificial hyperkeratos... |
OMIM:614594 |
Alg12-Cdg |
|
Partial absence of specific antibody response to Haemophilus influenzae type b (Hib) vaccine, Abn... |
ORPHA:79324 |
Autoimmune Polyendocrinopathy Type 4 |
|
Macrocytic anemia, Antiphospholipid antibody positivity, Atrophic gastritis, Autoimmunity, Autoim... |
ORPHA:227990 |
Idiopathic Non-Lupus Full-House Nephropathy |
|
Skin rash, Autoimmunity, Glomerulonephritis, Elevated circulating creatinine concentration, Synov... |
ORPHA:567544 |
Allergic Bronchopulmonary Aspergillosis |
|
Abnormal eosinophil morphology |
ORPHA:1164 |
Chime Syndrome |
|
Erythema, Skin ulcer, Acute leukemia, Hyperkeratosis, Ichthyosis |
ORPHA:3474 |
Stevens-Johnson Syndrome |
|
Macule, Abnormality of neutrophils, Acantholysis, Thrombocytopenia, Erythema, Weight loss, Conjun... |
ORPHA:36426 |
Microcephalic Osteodysplastic Primordial Dwarfism Type Ii |
|
Disproportionate short stature, Hypopigmented skin patches, Truncal obesity, Multiple cafe-au-lai... |
ORPHA:2637 |
Igg4-Related Ophthalmic Disease |
|
Eosinophilia, Cholangitis, Increased circulating IgG4 level, Retroperitoneal fibrosis, Orchitis, ... |
ORPHA:449563 |
Trichothiodystrophy |
|
Congenital exfoliative erythroderma, Eczema, Increased mean corpuscular hemoglobin concentration,... |
ORPHA:33364 |
Dubowitz Syndrome |
|
Acute lymphoblastic leukemia, Decreased circulating IgG level, Aplastic anemia, Decreased circula... |
OMIM:223370 |
Alpha-Thalassemia |
|
Hemolytic anemia, Abnormal hemoglobin, Microcytic anemia, Hypersplenism, Splenomegaly, Jaundice, ... |
ORPHA:846 |
Cardiofaciocutaneous Syndrome 3 |
|
Hyperkeratosis, Failure to thrive, Short stature |
OMIM:615279 |
Calciphylaxis |
|
Abnormality of skin physiology, Skin ulcer |
ORPHA:280062 |
Ectodermal Dysplasia And Immunodeficiency 2 |
|
Hepatomegaly, Anhidrotic ectodermal dysplasia, Splenomegaly, Defective production of NFKB1-depend... |
OMIM:612132 |
Mpdu1-Cdg |
|
Scaling skin, Decreased response to growth hormone stimulation test |
ORPHA:79323 |
Eosinophilic Fasciitis |
|
Abnormal eosinophil morphology, Eosinophilia |
ORPHA:3165 |
White Sponge Nevus 2 |
|
Hyperparakeratosis, Epidermal acanthosis |
OMIM:615785 |
Majeed Syndrome |
|
Inflammatory abnormality of the skin, Osteomyelitis, Acne, Cachexia, Congenital hypoplastic anemi... |
ORPHA:77297 |
Squalene Synthase Deficiency |
|
Intrauterine growth retardation, Dry skin, Failure to thrive in infancy |
OMIM:618156 |
Autoimmune Polyendocrinopathy Type 3 |
|
Macrocytic anemia, Antiphospholipid antibody positivity, Atrophic gastritis, Autoimmunity, Autoim... |
ORPHA:227982 |
Deafness-Lymphedema-Leukemia Syndrome |
|
Hepatomegaly, Abnormal neutrophil count, Splenomegaly, Leukocytosis, Acute leukemia, Lymphadenopa... |
ORPHA:3226 |
Cushing Disease |
|
Acne, Leukocytosis, Increased body weight, Recurrent cutaneous fungal infections, Skin ulcer, Tru... |
ORPHA:96253 |
Thanatophoric Dysplasia, Glasgow Variant |
|
Neonatal death, Anemia, Hepatosplenomegaly |
OMIM:273680 |
Rift Valley Fever |
|
Jaundice, Hepatitis, Anemia, Increased circulating IgG level, Increased circulating IgM level, Th... |
ORPHA:319251 |
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy |
|
Hepatomegaly, Decreased circulating antibody level, Iron deficiency anemia, Thrombocytosis, Intes... |
OMIM:226300 |
Glutamine Deficiency, Congenital |
|
Neonatal death, Erythema |
OMIM:610015 |
Noonan Syndrome 14 |
|
Lymphopenia, Dry skin, Bruising susceptibility, Cryptorchidism |
OMIM:619745 |
Stormorken-Sjaastad-Langslet Syndrome |
|
Asplenia, Anemia, Purpura |
ORPHA:3204 |
Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome |
|
Granulomatous cholangitis, Cholestasis, Abnormal intrahepatic bile duct morphology, Increased cir... |
ORPHA:562639 |
Combined Immunodeficiency Due To Crac Channel Dysfunction |
|
Hemolytic anemia, Autoimmunity, Pneumonia, Recurrent viral infections, Splenomegaly, Recurrent my... |
ORPHA:169090 |
Resistance To Thyrotropin-Releasing Hormone Syndrome |
|
Reduced circulating prolactin concentration, Overweight, Pituitary hypothyroidism, Prolonged neon... |
ORPHA:99832 |
Burkitt Lymphoma |
|
Abnormality of the spleen, Abnormal lymph node morphology, Hyperuricemia, Decreased proportion of... |
ORPHA:543 |
Transaldolase Deficiency |
|
Hepatosplenomegaly, Anemia, Telangiectasia, Cirrhosis, Premature skin wrinkling, Thrombocytopenia |
ORPHA:101028 |
Localized Dystrophic Epidermolysis Bullosa, Acral Form |
|
Erythema, Crusting erythematous dermatitis, Palmoplantar hyperkeratosis, Erythematous plaque, Thi... |
ORPHA:158673 |
Whim Syndrome |
|
Lymphadenitis, Abnormal neutrophil morphology, Decreased circulating antibody level, Neutropenia,... |
ORPHA:51636 |
Mirage Syndrome |
|
Petechiae, Thrombocytopenia, Cryptorchidism, Leukopenia, Decreased body weight, Hypoplastic splee... |
OMIM:617053 |
Porokeratosis 7, Multiple Types |
|
Parakeratosis, Porokeratosis |
OMIM:614714 |
Porokeratosis 1, Multiple Types |
|
Parakeratosis, Porokeratosis |
OMIM:175800 |
Microcephaly-Lymphedema-Chorioretinopathy Syndrome |
|
Severe short stature, Thickened skin, Subcutaneous nodule, Skin ulcer, Panniculitis, Scaling skin... |
ORPHA:2526 |
Systemic Sclerosis |
|
Pericarditis, Osteomyelitis, Recurrent skin infections, Glomerulonephritis, Elevated circulating ... |
ORPHA:90291 |
Thrombocytopenia 5 |
|
Petechiae, Thrombocytopenia, B Acute Lymphoblastic Leukemia, Increased mean corpuscular volume, N... |
OMIM:616216 |
Malakoplakia |
|
Inflammatory abnormality of the skin, Skin rash, Pruritus, Orchitis, Urinary bladder inflammation... |
ORPHA:556 |
Infantile Myofibromatosis |
|
Subcutaneous nodule, Skin ulcer |
ORPHA:2591 |
Adult Polyglucosan Body Disease |
|
Skin ulcer |
ORPHA:206583 |
Epidermolysis Bullosa, Lethal Acantholytic |
|
Neonatal death, Skin erosion, Aplasia cutis congenita, Acantholysis |
OMIM:609638 |
Cyanosis, Transient Neonatal |
|
Reticulocytosis, Hepatomegaly, Cyanosis, Jaundice, Methemoglobinemia, Anemia |
OMIM:613977 |
Amed Syndrome, Digenic |
|
Acute myeloid leukemia, Anemia, Leukopenia, Bone marrow hypocellularity, Failure to thrive, Throm... |
OMIM:619151 |
Amoebiasis Due To Free-Living Amoebae |
|
Unusual skin infection, Sinusitis, Pneumonia, Pustule, Subcutaneous nodule, Skin ulcer, Granuloma... |
ORPHA:68 |
Hemochromatosis, Type 3 |
|
Cirrhosis, Neutropenia, Lymphopenia, Anemia, Purpura |
OMIM:604250 |
Alopecia-Intellectual Disability Syndrome 4 |
|
Erythroderma, Ichthyosis |
OMIM:618840 |
Hemoglobin C-Beta-Thalassemia Syndrome |
|
Splenomegaly, Abnormal hemoglobin, Anemia, Microcytic anemia |
ORPHA:231242 |
Ameloonychohypohidrotic Syndrome |
|
Dry skin, Seborrheic dermatitis |
OMIM:104570 |
Mixed-Type Autoimmune Hemolytic Anemia |
|
Autoimmune hemolytic anemia, Skin rash, Autoimmunity, Systemic lupus erythematosus, Increased tot... |
ORPHA:90036 |
Anemia, Congenital Dyserythropoietic, Type Ia |
|
Hemolytic anemia, Reticulocytosis, Mild postnatal growth retardation, Anemia of inadequate produc... |
OMIM:224120 |
Blau Syndrome |
|
Nongranulomatous uveitis, Pericarditis, Eczema, Erythema nodosum, Intermittent generalized erythe... |
OMIM:186580 |
Intellectual Developmental Disorder With Speech Delay, Dysmorphic Facies, And T-Cell Abnormalities |
|
Recurrent infections, Eosinophilia, Abnormally low T cell receptor excision circle level |
OMIM:618092 |
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum |
|
Anterior uveitis, Inflammatory abnormality of the skin, Skin rash, Pneumonia, Acantholysis, Kerat... |
ORPHA:95455 |
Agel Amyloidosis |
|
Cutis laxa, Abnormal spleen morphology, Dry skin, Dermatological manifestations of systemic disor... |
ORPHA:85448 |
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome |
|
Parakeratosis, Severe B lymphocytopenia, Superficial dermal perivascular inflammatory infiltrate,... |
ORPHA:83617 |
Eec Syndrome |
|
Aplasia/Hypoplasia of the skin, Short stature, Keratitis, Inflammatory abnormality of the eye, Hy... |
ORPHA:1896 |
X-Linked Intellectual Disability-Hypogammaglobulinemia-Progressive Neurological Deterioration Syndrome |
|
Decreased circulating antibody level |
ORPHA:85317 |
Mevalonic Aciduria |
|
Normocytic hypoplastic anemia, Failure to thrive, Failure to thrive in infancy, Fluctuating hepat... |
OMIM:610377 |
Costello Syndrome |
|
Short stature, Redundant skin, Failure to thrive in infancy, Lack of skin elasticity, Hyperkerato... |
ORPHA:3071 |
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 3 |
|
Agammaglobulinemia, Decreased circulating antibody level |
OMIM:616910 |
Hypotrichosis And Recurrent Skin Vesicles |
|
Skin vesicle, Angular cheilitis, Follicular hyperkeratosis |
OMIM:613102 |
Hidrotic Ectodermal Dysplasia |
|
Thickened skin, Palmoplantar hyperkeratosis, Cobblestone-like hyperkeratosis, Palmoplantar kerato... |
ORPHA:189 |
Neuropathy, Hereditary Sensory And Autonomic, Type Ia |
|
Foot osteomyelitis, Osteomyelitis, Acral ulceration |
OMIM:162400 |
Autoinflammation With Pulmonary And Cutaneous Vasculitis |
|
Hepatomegaly, Petechiae, Splenomegaly, Vasculitis in the skin, Anemia, Purpura |
OMIM:620296 |
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency |
|
Reticulocytosis, Anisocytosis, Splenomegaly, Leukocytosis, Jaundice, Prolonged neonatal jaundice,... |
OMIM:300908 |
Pituitary Adenoma 4, Acth-Secreting |
|
Poor wound healing, Pituitary adenoma, Obesity, Facial erythema, Abdominal obesity, Ecchymosis, B... |
OMIM:219090 |
Donohue Syndrome |
|
Hypermelanotic macule, Postnatal growth retardation, Hyperkeratosis, Severe failure to thrive, Ac... |
OMIM:246200 |
Intellectual Developmental Disorder, Autosomal Dominant 54 |
|
Short stature, Eczema, Small for gestational age, Growth delay, Neutropenia, Dry skin |
OMIM:617799 |
Immunoglobulin A Vasculitis |
|
Episcleritis, Macule, Skin rash, Orchitis, Pustule, Erythema, Skin ulcer, Arthritis, Infectious e... |
ORPHA:761 |
Peroxisome Biogenesis Disorder 14B |
|
Hydrocele testis, Dry skin |
OMIM:614920 |
Sheehan Syndrome |
|
Reduced circulating prolactin concentration, Adrenocorticotropic hormone deficiency, Gonadotropin... |
ORPHA:91355 |
Trichodysplasia-Xeroderma Syndrome |
|
Dry skin |
ORPHA:3361 |
Kindler Epidermolysis Bullosa |
|
Aplasia/Hypoplasia of the skin, Recurrent skin infections, Erythema, Cheilitis, Atypical scarring... |
ORPHA:2908 |
Tangier Disease |
|
Orange discolored tonsils, Chronic noninfectious lymphadenopathy, Thrombocytopenia, Hepatosplenom... |
ORPHA:31150 |
Q Fever |
|
Hepatomegaly, Thrombocytopenia, Splenomegaly, Hepatitis, Hepatosplenomegaly, Lymphadenopathy, Wei... |
ORPHA:781 |
Vipoma |
|
Neoplasm of the pancreas, Hepatomegaly, Subcutaneous lipoma, Elevated circulating growth hormone ... |
ORPHA:97282 |
Incontinentia Pigmenti |
|
Maculopapular exanthema, Eosinophilia, Short stature, Keratitis, Leukocytosis, Erythema, Uveitis,... |
OMIM:308300 |
Ectodermal Dysplasia 12, Hypohidrotic/Hair/Tooth/Nail Type |
|
Subungual hyperkeratosis, Eczema, Scarring alopecia of scalp, Orthokeratosis, Acne inversa |
OMIM:617337 |
Interstitial Lung Disease 2 |
|
Increased circulating antibody level, Cirrhosis |
OMIM:178500 |
Pigmentary Disorder, Reticulate, With Systemic Manifestations, X-Linked |
|
Increased circulating interleukin 8 concentration, Failure to thrive in infancy, Recurrent pneumo... |
OMIM:301220 |
Linear Verrucous Nevus Syndrome |
|
Hyperkeratosis, Verrucous papule |
ORPHA:2611 |
Palmoplantar Keratoderma, Punctate Type Ia |
|
Orthokeratosis, Punctate palmoplantar hyperkeratosis, Hypergranulosis |
OMIM:148600 |
Porokeratosis 3, Multiple Types |
|
Parakeratosis, Porokeratosis |
OMIM:175900 |
Rapp-Hodgkin Syndrome |
|
Short stature, Palmoplantar keratoderma, Thin skin, Recurrent otitis media, Dry skin |
OMIM:129400 |
Mannosidosis, Alpha B, Lysosomal |
|
Hepatomegaly, Splenomegaly, Vacuolated lymphocytes, Decreased circulating antibody level |
OMIM:248500 |
Stormorken Syndrome |
|
Howell-Jolly bodies, Asplenia, Anemia, Hypoplastic spleen, Bruising susceptibility, Thrombocytopenia |
OMIM:185070 |
X-Linked Immunoneurologic Disorder |
|
Decreased circulating IgG2 level |
ORPHA:2571 |
Crimean-Congo Hemorrhagic Fever |
|
Hepatomegaly, Acute pancreatitis, Neutrophilia, Pancytopenia, Parotitis, Orchitis, Splenomegaly, ... |
ORPHA:99827 |
Cyclic Neutropenia |
|
Cyclic neutropenia, Perianal abscess, Cervical lymphadenopathy, Peritonitis, Recurrent tonsilliti... |
ORPHA:2686 |
Igg4-Related Pachymeningitis |
|
Eosinophilia, Increased circulating IgG4 level, Lymphadenitis, Complement deficiency, Pancreatiti... |
ORPHA:449427 |
Alveolar Echinococcosis |
|
Liver abscess, Cholangitis, Portal hypertension, Hepatic cysts, Eosinophilia, Pancreatic cysts, A... |
ORPHA:284 |
Facial Dysmorphism, Immunodeficiency, Livedo, And Short Stature |
|
Decreased circulating total IgM |
OMIM:615139 |
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis |
|
Hemolytic anemia, Reticulocytosis, Hepatomegaly, Failure to thrive, Anisocytosis, Microvesicular ... |
OMIM:618278 |
Autosomal Dominant Palmoplantar Keratoderma And Congenital Alopecia |
|
Facial erythema, Palmoplantar keratoderma, Scaling skin, Skin fissure, Dry skin, Sclerodactyly |
ORPHA:1010 |
Dubowitz Syndrome |
|
Sacral dimple, Short stature, Eczema, Abnormality of neutrophils, Postnatal growth retardation, A... |
ORPHA:235 |
Noonan Syndrome 13 |
|
Recurrent otitis media, Cafe-au-lait spot, Multiple lentigines, Dry skin |
OMIM:619087 |
Xeroderma Pigmentosum-Cockayne Syndrome Complex |
|
Skin rash, Short stature, Cachexia, Dermal atrophy, Dry skin |
ORPHA:220295 |
Lymphatic Malformation 4 |
|
Hyperkeratosis |
OMIM:615907 |
Bachmann-Bupp Syndrome |
|
Cryptorchidism, Dry skin, Large for gestational age |
OMIM:619075 |
Radio-Tartaglia Syndrome |
|
Dry skin, Obesity, Striae distensae |
OMIM:619312 |
Anemia, Sideroblastic, 3, Pyridoxine-Refractory |
|
Hepatomegaly, Anisocytosis, Splenomegaly, Jaundice, Hepatosplenomegaly, Decreased mean corpuscula... |
OMIM:616860 |
Xfe Progeroid Syndrome |
|
Failure to thrive, Severe short stature, Cachexia, Hypoalbuminemia, Dermal atrophy, Dry skin |
OMIM:610965 |
Neuronal Intestinal Pseudoobstruction |
|
Patent ductus arteriosus, Decreased circulating antibody level |
ORPHA:99811 |
Anemia, Sideroblastic, 1 |
|
Sideroblastic anemia, Macrocytic anemia, Anemic pallor, Anemia of inadequate production, Hypochro... |
OMIM:300751 |
Cowden Syndrome 1 |
|
Lymphopenia, Decreased circulating antibody level |
OMIM:158350 |
Squamous Cell Carcinoma Of The Anal Canal |
|
Skin ulcer |
ORPHA:424019 |
Ebola Hemorrhagic Fever |
|
Acute pancreatitis, Hepatitis, Leukopenia, Increased circulating antibody level, Lymphopenia, Thr... |
ORPHA:319218 |
Nijmegen Breakage Syndrome |
|
Autoimmune hemolytic anemia, Dysgammaglobulinemia, T lymphocytopenia, B lymphocytopenia, Thromboc... |
OMIM:251260 |
Pneumocystosis |
|
Weight loss, Increased circulating antibody level, Abnormal neutrophil count |
ORPHA:723 |
Acute Promyelocytic Leukemia |
|
Pancytopenia, Thrombocytopenia, Leukocytosis, Lymphadenopathy, Anemia, Leukopenia, Weight loss, N... |
ORPHA:520 |
Microcephaly With Chemotactic Defect And Transient Hypogammaglobulinemia |
|
Transient hypogammaglobulinemia of infancy |
OMIM:251240 |
Gcgr-Related Hyperglucagonemia |
|
Neoplasm of the pancreas, Cholelithiasis, Abnormal biliary tract morphology, Necrolytic migratory... |
ORPHA:438274 |
Chondrodysplasia Punctata 2, X-Linked Dominant |
|
Rhizomelia, Postnatal growth retardation, Congenital ichthyosiform erythroderma, Congenital nonbu... |
OMIM:302960 |
Tick-Borne Encephalitis |
|
Leukocytosis, Increased circulating IgG level, Increased circulating IgM level, Leukopenia, Abnor... |
ORPHA:297 |
X-Linked Severe Congenital Neutropenia |
|
Monocytopenia, Neutropenia |
ORPHA:86788 |
Ectodermal Dysplasia/Short Stature Syndrome |
|
Hyperkeratosis, Palmoplantar keratoderma, Short stature |
OMIM:616029 |
Anemia, Congenital Dyserythropoietic, Type Iv |
|
Decreased hemoglobin concentration, Hemolytic anemia, Circulating nucleated red blood cells, Reti... |
OMIM:613673 |
Osteopetrosis, Autosomal Recessive 3 |
|
Extramedullary hematopoiesis, Short stature, Anemia, Hepatosplenomegaly |
OMIM:259730 |
Ichthyosis, Congenital, Autosomal Recessive 11 |
|
Pruritus, Hyperkeratosis, Congenital ichthyosiform erythroderma, Blepharitis |
OMIM:602400 |
Ectodermal Dysplasia-Sensorineural Deafness Syndrome |
|
Hyperkeratosis, Short stature |
ORPHA:1883 |
Bone Marrow Failure Syndrome 6 |
|
Persistence of hemoglobin F, Increased mean corpuscular volume, Bone marrow hypocellularity, Neut... |
OMIM:618849 |
Juvenile Arthritis |
|
Thrombocytosis, Leukocytosis |
OMIM:618795 |
Fanconi Anemia, Complementation Group T |
|
Acute myeloid leukemia, Pancytopenia, Thrombocytopenia, Bone marrow hypocellularity, Anemia |
OMIM:616435 |
Attenuated Chédiak-Higashi Syndrome |
|
Skin ulcer |
ORPHA:352723 |
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome |
|
Recurrent herpes, T lymphocytopenia, Infectious encephalitis, Autoimmune thrombocytopenia, Bronch... |
ORPHA:391487 |
Polycythemia Vera |
|
Splenomegaly, Leukocytosis, Increased hemoglobin, Increased red blood cell mass, Increased hemato... |
OMIM:263300 |
Giant Cell Arteritis |
|
Arthritis, Pericarditis, Skin ulcer, Weight loss |
ORPHA:397 |
Cinca Syndrome |
|
Eosinophilia, Leukocytosis, Lymphadenopathy, Hepatosplenomegaly, Anemia |
OMIM:607115 |
Coccidioidomycosis |
|
Eosinophilia, Abscess, Abnormality of the spleen, Mediastinal lymphadenopathy, Peritonitis, Lymph... |
ORPHA:228123 |
Sialidosis Type 1 |
|
Hyperkeratosis, Splenomegaly, Short stature |
ORPHA:812 |
Familial Tumoral Calcinosis |
|
Splenomegaly, Hepatomegaly, Erythema |
ORPHA:53715 |
Tumor Necrosis Factor Receptor 1 Associated Periodic Syndrome |
|
Orchitis, Splenomegaly, Leukocytosis, Erythema, Peritonitis, Lymphadenopathy, Bruising susceptibi... |
ORPHA:32960 |
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 1 |
|
Pancytopenia, Aplastic anemia, Mediastinal lymphadenopathy, Premature graying of hair, Bone marro... |
OMIM:614742 |
Hb Bart'S Hydrops Fetalis |
|
Hepatomegaly, Abnormal hemoglobin, Splenomegaly, Pallor, Anemia |
ORPHA:163596 |
Hereditary Elliptocytosis |
|
Hemolytic anemia, Reticulocytosis, Abnormal erythrocyte morphology, Splenomegaly, Postnatal growt... |
ORPHA:288 |
Systemic Mastocytosis With Associated Hematologic Neoplasm |
|
Normocytic anemia, Acute myeloid leukemia, Hepatomegaly, Neutrophilia, Eosinophilia, Splenomegaly... |
ORPHA:98849 |
Osteopetrosis, Autosomal Recessive 4 |
|
Reticulocytosis, Hepatomegaly, Petechiae, Splenomegaly, Anemia, Thrombocytopenia |
OMIM:611490 |
Urachal Cyst |
|
Leukocytosis, Erythema, Abscess, Peritonitis |
ORPHA:488 |
Idiopathic Aplastic Anemia |
|
Pancytopenia, Thrombocytopenia, Reticulocytopenia, Bone marrow hypocellularity, Neutropenia, Ecch... |
ORPHA:88 |
Ifap Syndrome 1, With Or Without Bresheck Syndrome |
|
Ichthyosis follicularis, Subungual hyperkeratosis, Recurrent skin infections, Eczema, Perianal er... |
OMIM:308205 |
Zika Virus Disease |
|
Increased circulating IgM level, Subcutaneous hemorrhage, Thrombocytopenia |
ORPHA:448237 |
Hoyeraal-Hreidarsson Syndrome |
|
Abnormal leukocyte morphology, Anemia, Excessive wrinkled skin, Premature graying of hair, Bone m... |
ORPHA:3322 |
Myeloma, Multiple |
|
Paraproteinemia |
OMIM:254500 |
Koolen-De Vries Syndrome |
|
Sacral dimple, Failure to thrive, Short stature, Eczema, Small for gestational age, Intrauterine ... |
OMIM:610443 |
Plague |
|
Chapped lip, Skin rash, Erythema nodosum, Splenomegaly, Lymphadenitis, Localized skin lesion, Ent... |
ORPHA:707 |
Orotic Aciduria |
|
Impaired T cell function, Anisocytosis, Folate-unresponsive megaloblastic anemia, Pyrimidine-resp... |
OMIM:258900 |
Hypertrophic Osteoarthropathy, Primary, Autosomal Recessive, 2 |
|
Thickened skin, Acne, Hypoalbuminemia, Seborrheic dermatitis |
OMIM:614441 |
Alg11-Cdg |
|
Failure to thrive, Dry skin |
ORPHA:280071 |
Complex Regional Pain Syndrome |
|
Erythema, Dry skin |
ORPHA:83452 |
Hajdu-Cheney Syndrome |
|
Failure to thrive, Short stature, Splenomegaly, Thickened skin, Skin ulcer, Periodontitis, Delaye... |
ORPHA:955 |
Angioedema, Hereditary, 1 |
|
Angioedema, Erythema, Reduced hemolytic complement activity, Decreased circulating complement C4 ... |
OMIM:106100 |
Acute Adrenal Insufficiency |
|
Normocytic anemia, Dry skin, Weight loss, Increased circulating renin level, Delayed puberty, Fai... |
ORPHA:95409 |
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome |
|
Pancytopenia, Cachexia, Abnormality of the spleen, Splenomegaly, Skin ulcer, Hepatosplenomegaly, ... |
ORPHA:2072 |
Immunodeficiency 87 And Autoimmunity |
|
Atrophic gastritis, Abnormal lymphocyte proliferation, Elevated circulating C-reactive protein co... |
OMIM:619573 |
Hydroxykynureninuria |
|
Stomatitis, Dry skin |
ORPHA:79155 |
Basan Syndrome |
|
Palmoplantar keratoderma, Epidermal acanthosis |
OMIM:129200 |
Jung Syndrome |
|
Dry skin |
ORPHA:2321 |
Adult Syndrome |
|
Dry skin, Thin skin, Skin ulcer, Melanocytic nevus |
ORPHA:978 |
Tylosis With Esophageal Cancer |
|
Diffuse palmoplantar hyperkeratosis, Parakeratosis, Follicular hyperkeratosis |
OMIM:148500 |
Mgat2-Cdg |
|
Impaired lymphocyte transformation with phytohemagglutinin, Patent ductus arteriosus, Decreased c... |
ORPHA:79329 |
Fixed Drug Eruption |
|
Erythema, Generalized abnormality of skin |
ORPHA:293812 |
Igg4-Related Thyroid Disease |
|
Pancreatic fibrosis, Increased circulating IgG4 level, Retroperitoneal fibrosis, Abnormal pituita... |
ORPHA:64744 |
Ectodermal Dysplasia-Skin Fragility Syndrome |
|
Chapped lip, Recurrent skin infections, Short stature, Pruritus, Recurrent pneumonia, Cheilitis, ... |
ORPHA:158668 |
9P13 Microdeletion Syndrome |
|
Recurrent otitis media, Cafe-au-lait spot, Dry skin, Short stature |
ORPHA:324313 |
Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2 |
|
Chronic gastritis, Increased circulating interleukin 6 concentration, Recurrent respiratory infec... |
OMIM:301074 |
Fountain Syndrome |
|
Erythema, Cutis marmorata |
ORPHA:3219 |
Diffuse Cutaneous Systemic Sclerosis |
|
Arthritis, Skin ulcer |
ORPHA:220393 |
Bernard-Soulier Syndrome, Type A2, Autosomal Dominant |
|
Hemolytic anemia, Increased mean platelet volume, Impaired ristocetin-induced platelet aggregatio... |
OMIM:153670 |
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 2 |
|
Pancytopenia, Erythema |
OMIM:618321 |
Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis |
|
Abnormally low T cell receptor excision circle level, Macrocytic anemia, Neutrophilia, Impaired n... |
OMIM:608203 |
Glucagonoma |
|
Neoplasm of the pancreas, Hepatomegaly, Subcutaneous lipoma, Elevated circulating growth hormone ... |
ORPHA:97280 |
Tooth Agenesis, Selective, 4 |
|
Dry skin, Thin skin, Palmar hyperkeratosis |
OMIM:150400 |
Lymphatic Malformation 12 |
|
Neonatal death, Hyperkeratosis |
OMIM:620014 |
Mycetoma |
|
Recurrent bacterial skin infections, Osteomyelitis, Subcutaneous nodule, Cobblestone-like hyperke... |
ORPHA:2583 |
Chronic Graft Versus Host Disease |
|
Pancytopenia, Fasciitis, Thickened skin, Urinary bladder inflammation, Erythema, Bronchiectasis, ... |
ORPHA:99921 |
Sickle Cell Anemia |
|
Hemolytic anemia, Reticulocytosis, Pigment gallstones, Microcytic anemia, Abnormality of the sple... |
ORPHA:232 |
Syndromic Multisystem Autoimmune Disease Due To Itch Deficiency |
|
Pancytopenia, Autoimmunity, Cholangitis, Hypersplenism, Anti-thyroid peroxidase antibody positivi... |
ORPHA:228426 |
Vici Syndrome |
|
Decreased circulating IgG level, Lymphopenia, Recurrent respiratory infections, Elevated circulat... |
OMIM:242840 |
Monosomy 18Q |
|
Patent ductus arteriosus, Decreased circulating IgA level |
ORPHA:1600 |
Cerebroretinal Microangiopathy With Calcifications And Cysts 2 |
|
Pancytopenia, Bone marrow hypocellularity, Abnormally low T cell receptor excision circle level |
OMIM:617341 |
Neurodevelopmental Disorder With Dysmorphic Facies And Cerebellar Hypoplasia |
|
Accessory spleen, Dry skin |
OMIM:619306 |
Alpha-N-Acetylgalactosaminidase Deficiency Type 1 |
|
Hyperkeratosis |
ORPHA:79279 |
Septo-Optic Dysplasia Spectrum |
|
Dry skin, Short stature, Obesity |
ORPHA:3157 |
Rothmund-Thomson Syndrome Type 2 |
|
Aplastic anemia, Small for gestational age, Cryptorchidism, Erythema, Facial erythema, Neutropeni... |
ORPHA:221016 |
Interstitial Granulomatous Dermatitis With Arthritis |
|
Inflammatory abnormality of the skin, Elevated circulating C-reactive protein concentration, Prur... |
ORPHA:79099 |
Palmoplantar Keratoderma, Nonepidermolytic, Focal Or Diffuse |
|
Plantar hyperkeratosis, Palmoplantar keratoderma, Epidermal acanthosis |
OMIM:615735 |
Koolen-De Vries Syndrome |
|
Dry skin, Short stature, Ichthyosis |
ORPHA:96169 |
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type |
|
Hyperkeratosis, Rhizomelia, Short stature, Intrauterine growth retardation |
ORPHA:163966 |
Hemophagocytic Lymphohistiocytosis, Familial, 2 |
|
Hepatomegaly, Pancytopenia, Reduced natural killer cell activity, Thrombocytopenia, Splenomegaly,... |
OMIM:603553 |
Neurodevelopmental Disorder With Epilepsy And Hemochromatosis |
|
Short stature, Seborrheic dermatitis, Splenomegaly, Truncal obesity, Papule, Aspiration pneumonia... |
OMIM:301072 |
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction |
|
T lymphocytopenia, Patent ductus arteriosus, Abnormal B cell morphology, Aplasia of the thymus |
OMIM:618223 |
Sepsis In Premature Infants |
|
Hepatomegaly, Increased circulating interleukin 6 concentration, Cyanosis, Small for gestational ... |
ORPHA:90051 |
Knuckle Pads-Leukonychia-Sensorineural Deafness-Palmoplantar Hyperkeratosis Syndrome |
|
Hyperkeratotic papule, Palmoplantar keratoderma, Palmoplantar hyperkeratosis |
ORPHA:2698 |
Okur-Chung Neurodevelopmental Syndrome |
|
Decreased circulating IgG level, Decreased circulating IgA level, Decreased circulating antibody ... |
OMIM:617062 |
Vexas Syndrome |
|
Inflammatory abnormality of the skin, Macrocytic anemia, Neutrophilic infiltration of the skin, C... |
OMIM:301054 |
Addison Disease |
|
Normocytic anemia, Failure to thrive, Thiamine-responsive megaloblastic anemia, Weight loss, Incr... |
ORPHA:85138 |
Spondyloenchondrodysplasia With Immune Dysregulation |
|
Recurrent respiratory infections, Autoimmunity, Pneumonia, Autoimmune thrombocytopenia, Antinucle... |
OMIM:607944 |
Simpson-Golabi-Behmel Syndrome |
|
Hepatomegaly, Supernumerary nipple, Splenomegaly, Cryptorchidism, Increased circulating IgE level... |
ORPHA:373 |
Melas |
|
Hypoparathyroidism, Erythema, Recurrent pancreatitis, Failure to thrive, Anemia |
ORPHA:550 |
Kanzaki Disease |
|
Hyperkeratosis, Dry skin, Petechiae |
OMIM:609242 |
Rabson-Mendenhall Syndrome |
|
Short stature, Severe postnatal growth retardation, Acanthosis nigricans, Intrauterine growth ret... |
ORPHA:769 |
Hidrotic Ectodermal Dysplasia, Halal Type |
|
Multiple cafe-au-lait spots, Follicular hyperkeratosis |
ORPHA:1809 |
Den Hoed-De Boer-Voisin Syndrome |
|
Overweight, Obesity, Decreased body weight, Intrauterine growth retardation, Dry skin |
OMIM:619229 |
Isolated Thyroid-Stimulating Hormone Deficiency |
|
Pituitary hypothyroidism, Dry skin, Prolonged neonatal jaundice, Macroorchidism, Failure to thriv... |
ORPHA:90674 |
Neuropathy, Hereditary Sensory, With Spastic Paraplegia, Autosomal Recessive |
|
Foot osteomyelitis, Decreased circulating apolipoprotein B concentration, Acral ulceration |
OMIM:256840 |
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome |
|
Decreased circulating total IgM, Patent ductus arteriosus, Decreased circulating IgA level |
ORPHA:369837 |
Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects |
|
Parakeratosis, Epidermal nevus, Short stature, Erythema, Hyperkeratosis, Congenital ichthyosiform... |
OMIM:308050 |
Alopecia-Contractures-Dwarfism-Intellectual Disability Syndrome |
|
Severe short stature, Moderate postnatal growth retardation, Hyperkeratosis, Ichthyosis, Intraute... |
ORPHA:1005 |
Caffey Disease |
|
Increased circulating antibody level |
ORPHA:1310 |
Adult-Onset Nemaline Myopathy |
|
Paraproteinemia |
ORPHA:171442 |
Lissencephaly Syndrome, Norman-Roberts Type |
|
Hypoplastic spleen |
ORPHA:89844 |
Hennekam Syndrome |
|
Splenomegaly, Pulmonary lymphangiectasia, Lymphadenopathy, Decreased circulating antibody level, ... |
ORPHA:2136 |
Tarp Syndrome |
|
Intrauterine growth retardation, Failure to thrive, Extramedullary hematopoiesis |
ORPHA:2886 |
Oligoarticular Juvenile Idiopathic Arthritis |
|
Autoimmunity, Antinuclear antibody positivity, Knee osteoarthritis, Oligoarthritis, Uveitis, Incr... |
ORPHA:85410 |
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies |
|
Reduced subcutaneous adipose tissue, Hemolytic anemia, Failure to thrive, Decreased response to g... |
OMIM:619503 |
Neonatal Inflammatory Skin And Bowel Disease |
|
Psoriasiform dermatitis, Erythema, Scaling skin |
ORPHA:294023 |
Rheumatic Fever |
|
Erythema, Pallor |
ORPHA:3099 |
Poems Syndrome |
|
Weight loss, Lymphadenopathy, Increased circulating antibody level, Thrombocytosis, Acrocyanosis,... |
ORPHA:2905 |
Acute Monoblastic/Monocytic Leukemia |
|
Acute monocytic leukemia, Leukocytosis, Cervical lymphadenopathy, Weight loss, Lymphocytosis, Hyp... |
ORPHA:514 |
Milroy Disease |
|
Hyperkeratosis, Erysipelas |
ORPHA:79452 |
Mucopolysaccharidosis-Plus Syndrome |
|
Hepatomegaly, Thrombocytopenia, Splenomegaly, Increased circulating IgM level, Leukopenia, Bone m... |
OMIM:617303 |
Inflammatory Pseudotumor Of The Liver |
|
Increased hepatitis B virus antibody level, Abnormal liver sonography, Biliary tract abnormality,... |
ORPHA:90003 |
Neuropathy, Hereditary Sensory And Autonomic, Type V |
|
Septic arthritis, Osteoarthritis, Osteomyelitis, Acral ulceration |
OMIM:608654 |
Al Amyloidosis |
|
Hepatomegaly, Howell-Jolly bodies, Weight loss, Abnormality of the liver, Increased circulating a... |
ORPHA:85443 |
Palmoplantar Carcinoma, Multiple Self-Healing |
|
Parakeratosis, Palmoplantar keratoderma, Chronic rhinitis, Follicular hyperkeratosis |
OMIM:615225 |
Kcnq2-Related Epileptic Encephalopathy |
|
Pallor, Facial erythema |
ORPHA:439218 |
Adult Syndrome |
|
Eczema, Conjunctivitis, Dermal atrophy, Thin skin, Dry skin |
OMIM:103285 |
Cockayne Syndrome B |
|
Reduced subcutaneous adipose tissue, Hepatomegaly, Failure to thrive, Small for gestational age, ... |
OMIM:133540 |
Aicardi-Goutières Syndrome |
|
Myositis, Short stature, Chilblains, Neonatal alloimmune thrombocytopenia, Chronic lymphatic leuk... |
ORPHA:51 |
Atypical Werner Syndrome |
|
Failure to thrive, Aplasia/Hypoplasia of the skin, Short stature, Lack of skin elasticity, Skin u... |
ORPHA:79474 |
Noonan Syndrome 2 |
|
Short stature, Hyperkeratosis, Nevus, Palmoplantar cutis laxa, Leukemia, Cafe-au-lait spot |
OMIM:605275 |
Neurodevelopmental Disorder With Hypotonia, Neonatal Respiratory Insufficiency, And Thermodysregulation |
|
Dry skin |
OMIM:618797 |
Oculocerebrorenal Syndrome Of Lowe |
|
Short stature, Thrombocytopenia, Cheilitis, Skin ulcer, Atypical scarring of skin, Arthritis, Per... |
ORPHA:534 |
Multiple Endocrine Neoplasia Type 4 |
|
Hyperparathyroidism, Pituitary null cell adenoma, Elevated circulating growth hormone concentrati... |
ORPHA:276152 |
Rothmund-Thomson Syndrome Type 1 |
|
Aplastic anemia, Small for gestational age, Cryptorchidism, Facial erythema, Telangiectasia, Neut... |
ORPHA:221008 |
Hemihyperplasia-Multiple Lipomatosis Syndrome |
|
Hyperparakeratosis, Nevus, Seborrheic dermatitis |
ORPHA:276280 |
Monilethrix |
|
Follicular hyperkeratosis |
ORPHA:573 |
Parkes Weber Syndrome |
|
Prominent superficial blood vessels, Scaling skin, Skin ulcer, Abnormal lymphatic vessel morphology |
ORPHA:90307 |
Pachyonychia Congenita 1 |
|
Follicular hyperkeratosis, Palmoplantar hyperkeratosis |
OMIM:167200 |
Erythroderma Desquamativum |
|
Failure to thrive, Seborrheic dermatitis |
ORPHA:314 |
Trichinellosis |
|
Increased circulating IgE level |
ORPHA:863 |
Say-Barber-Miller Syndrome |
|
Transient hypogammaglobulinemia of infancy, Decreased circulating antibody level, Abnormal T cell... |
ORPHA:3132 |
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts |
|
Anisopoikilocytosis, Reticulocytopenia, Hepatosplenomegaly, Decreased mean corpuscular volume, Pa... |
ORPHA:300298 |
Ullrich Congenital Muscular Dystrophy 1 |
|
Failure to thrive, Slender build, Mildly elevated creatine kinase, Follicular hyperkeratosis |
OMIM:254090 |
Neurodevelopmental Disorder With Cerebral Atrophy And Variable Facial Dysmorphism |
|
Cryptorchidism, Dry skin |
OMIM:619244 |
Sunct Syndrome |
|
Flushing, Facial erythema |
ORPHA:57145 |
Cushing Syndrome Due To Ectopic Acth Secretion |
|
Acne, Leukocytosis, Increased body weight, Recurrent cutaneous fungal infections, Skin ulcer, Wei... |
ORPHA:99889 |
Fanconi Anemia, Complementation Group V |
|
Anemia, Bone marrow hypocellularity, Thrombocytopenia, Neutropenia |
OMIM:617243 |
Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Impaired Intellectual Development, And Ear Anomalies Syndrome |
|
Large for gestational age, Palmoplantar hyperkeratosis, Acute lymphoblastic leukemia, Ichthyosis,... |
OMIM:280000 |
Anemia, Sideroblastic, 5 |
|
Thrombocytopenia, Hypochromic microcytic anemia, Reduced hematocrit, Neutropenia, Anemia |
OMIM:619523 |
Hereditary Mucoepithelial Dysplasia |
|
Hyperkeratosis |
ORPHA:1839 |
Corticosteroid-Sensitive Aseptic Abscess Syndrome |
|
Brain abscess, Neutrophilia, Liver abscess, Abnormality of the pancreas, Abnormality of the lymph... |
ORPHA:54251 |
Cockayne Syndrome A |
|
Reduced subcutaneous adipose tissue, Hepatomegaly, Failure to thrive, Prematurely aged appearance... |
OMIM:216400 |
Refractory Anemia With Excess Blasts |
|
Acute myeloid leukemia, Anemic pallor, Anemia of inadequate production, Leukocytosis, Abnormal me... |
ORPHA:86839 |
Trichothiodystrophy 5, Nonphotosensitive |
|
Cutis marmorata, Progeroid facial appearance, Chronic decreased circulating IgG1, Cutaneous photo... |
OMIM:300953 |
Zollinger-Ellison Syndrome |
|
Hyperparathyroidism, Pituitary null cell adenoma, Elevated circulating growth hormone concentrati... |
ORPHA:913 |
Monosomy 22 |
|
Aplasia of the thymus, Seborrheic dermatitis, Thickened skin, Hypochromic microcytic anemia, Hepa... |
ORPHA:96123 |
Reactive Arthritis |
|
Pericarditis, Osteomyelitis, Pustule, Enthesitis, Weight loss, Hyperkeratosis, Inflammation of th... |
ORPHA:29207 |
Ring Chromosome 21 Syndrome |
|
Decreased circulating antibody level |
ORPHA:1445 |
Spondyloenchondrodysplasia |
|
Pancytopenia, Autoimmune hemolytic anemia, Skin rash, Autoimmunity, Decreased response to growth ... |
ORPHA:1855 |
Chediak-Higashi Syndrome |
|
Impaired neutrophil bactericidal activity, Hepatomegaly, Abnormal dense granules, Thrombocytopeni... |
OMIM:214500 |
Mucoepithelial Dysplasia, Hereditary |
|
Pneumonia, Eosinophilia, Recurrent pneumonia, Chronic mucocutaneous candidiasis, Keratoconjunctiv... |
OMIM:158310 |
Fgfr2-Related Bent Bone Dysplasia |
|
Extramedullary hematopoiesis, Hepatosplenomegaly |
ORPHA:313855 |
Mixed Connective Tissue Disease |
|
Hemolytic anemia, Myositis, Pericarditis, Skin rash, Autoimmunity, Gastritis, Splenomegaly, Media... |
ORPHA:809 |
Autoimmune Hypoparathyroidism |
|
Autoimmunity, Autoimmune hypoparathyroidism, Autoimmune antibody positivity, Chronic mucocutaneou... |
ORPHA:36913 |
Cardiofaciocutaneous Syndrome 1 |
|
Numerous nevi, Short stature, Splenomegaly, Atopic dermatitis, Hyperkeratosis, Multiple lentigine... |
OMIM:115150 |
Hermansky-Pudlak Syndrome |
|
Thickened skin, Melanocytic nevus, Weight loss, Hyperkeratosis, Neutropenia |
ORPHA:79430 |
Ectodermal Dysplasia-Intellectual Disability-Central Nervous System Malformation Syndrome |
|
Cryptorchidism, Dry skin, Supernumerary nipple |
ORPHA:1812 |
Alopecia Antibody Deficiency |
|
Decreased circulating antibody level |
ORPHA:1006 |
X-Linked Intellectual Disability, Nascimento Type |
|
Preauricular pit, Recurrent cutaneous abscess formation, Dry skin, Neutropenia |
ORPHA:163956 |
Ectodermal Dysplasia 11A, Hypohidrotic/Hair/Tooth Type, Autosomal Dominant |
|
Dry skin, Hypohidrotic ectodermal dysplasia, Absent nipple |
OMIM:614940 |
Familial Mediterranean Fever |
|
Orchitis, Splenomegaly, Peritonitis, Erythema, Lymphadenopathy, Pancreatitis |
ORPHA:342 |
Primary Sclerosing Cholangitis |
|
Abnormal eosinophil morphology, Spider hemangioma, Hepatic fibrosis, Neoplasm of the gallbladder,... |
ORPHA:171 |
Hereditary Orotic Aciduria |
|
Splenomegaly, Impaired T cell function, Anemia |
ORPHA:30 |
Aicardi-Goutieres Syndrome 7 |
|
Hemolytic anemia, Hepatomegaly, Generalized lymphadenopathy, Pancytopenia, Thrombocytopenia, Sple... |
OMIM:615846 |
Biotinidase Deficiency |
|
Skin rash, Recurrent skin infections, Seborrheic dermatitis, Splenomegaly, Conjunctivitis |
OMIM:253260 |
Ectodermal Dysplasia 11B, Hypohidrotic/Hair/Tooth Type, Autosomal Recessive |
|
Absent nipple, Ectodermal dysplasia, Hypoplastic nipples, Periorbital wrinkles, Dry skin |
OMIM:614941 |
Autoinflammation, Immune Dysregulation, And Eosinophilia |
|
Eosinophilic liver infiltration, Eosinophilia, Hepatic cysts, Hepatosplenomegaly |
OMIM:618999 |
Hallermann-Streiff Syndrome |
|
Small for gestational age, Proportionate short stature, Recurrent pneumonia, Dermal atrophy, Dry ... |
OMIM:234100 |
Mednik Syndrome |
|
Erythema, Cholestasis, Hepatic fibrosis, Cirrhosis, Neonatal death |
OMIM:609313 |
Atopic Keratoconjunctivitis |
|
Keratitis, Keratoconjunctivitis sicca, Dry skin, Blepharitis |
ORPHA:163934 |
Congenital Dyserythropoietic Anemia Type Iii |
|
Anisocytosis, Abnormal erythrocyte morphology, Increased mean corpuscular volume, Pallor, Poikilo... |
ORPHA:98870 |
Pearson Syndrome |
|
Hypoparathyroidism, Reticulocytosis, Hepatomegaly, Pancytopenia, Pancreatic fibrosis, Small for g... |
ORPHA:699 |
Cinca Syndrome |
|
Abnormality of neutrophils, Splenomegaly, Leukocytosis, Growth delay, Abnormal granulocyte morpho... |
ORPHA:1451 |
Roifman Syndrome |
|
Lymphadenopathy, Splenomegaly, Eosinophilia, Hepatomegaly |
OMIM:616651 |
Naxos Disease |
|
Subungual hyperkeratosis, Acantholysis, Diffuse palmoplantar hyperkeratosis, Hyperkeratosis, Palm... |
OMIM:601214 |
Keratosis Follicularis Spinulosa Decalvans, Autosomal Dominant |
|
Facial erythema |
OMIM:612843 |
Gracile Bone Dysplasia |
|
Asplenia, Hypoplastic spleen, Failure to thrive |
OMIM:602361 |
Epidermodysplasia Verruciformis, Susceptibility To, 3 |
|
Epidermal acanthosis |
OMIM:618267 |
Autoimmune Hemolytic Anemia, Warm Type |
|
Autoimmune hemolytic anemia, Autoimmunity, Splenomegaly, Systemic lupus erythematosus, Chronic ly... |
ORPHA:90033 |
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Dominant |
|
Recurrent bacterial skin infections, Keratitis, Hyperkeratosis, Keratoconjunctivitis sicca, Ichth... |
OMIM:148210 |
Bethlem Myopathy |
|
Hyperkeratosis, Cigarette-paper scars, Elevated circulating creatine kinase concentration |
ORPHA:610 |
Restrictive Dermopathy 1 |
|
Epidermal hyperkeratosis, Stillbirth, Scaling skin, Thin skin, Neonatal death |
OMIM:275210 |
Noonan Syndrome-Like Disorder With Loose Anagen Hair 1 |
|
Failure to thrive, Short stature, Eczema, Large for gestational age, Hyperkeratosis, Multiple len... |
OMIM:607721 |
Sitosterolemia 1 |
|
Reticulocytosis, Thrombocytopenia, Splenomegaly, Giant platelets, Stomatocytosis, Episodic hemoly... |
OMIM:210250 |
Premature Aging Syndrome, Penttinen Type |
|
Thickened skin, Skin nodule, Palmoplantar hyperkeratosis, Hyperkeratosis, Thin skin, Dermal atrop... |
OMIM:601812 |
Monilethrix |
|
Perifollicular hyperkeratosis |
OMIM:158000 |
Nestor-Guillermo Progeria Syndrome |
|
Growth delay, Failure to thrive, Dry skin, Short stature |
OMIM:614008 |
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders |
|
Patent ductus arteriosus, Hepatosplenomegaly, Anemia, Leukopenia, Increased circulating IgM level... |
ORPHA:505248 |
Fanconi Anemia, Complementation Group C |
|
Pancytopenia, Anemic pallor, Small for gestational age, Thrombocytopenia, Cryptorchidism, Reticul... |
OMIM:227645 |
Cranioectodermal Dysplasia 3 |
|
Rhizomelia, Dry skin, Short stature, Cutis laxa |
OMIM:614099 |
Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome |
|
Dermal translucency, Membranoproliferative glomerulonephritis, Epidermal hyperkeratosis |
OMIM:137940 |
Thrombocytopenia-Absent Radius Syndrome |
|
Short stature, Eosinophilia, Seborrheic dermatitis, Leukocytosis, Hepatosplenomegaly, Anemia, Dec... |
OMIM:274000 |
Restrictive Dermopathy |
|
Epidermal hyperkeratosis, Aplasia/Hypoplastia of the eccrine sweat glands, Scaling skin, Webbed n... |
ORPHA:1662 |
Viss Syndrome |
|
Prominent superficial blood vessels, Increased circulating IgE level, Hypereosinophilia, Cutis la... |
OMIM:619472 |
Punctate Palmoplantar Keratoderma Type 1 |
|
Pancreatic adenocarcinoma, Epidermal acanthosis, Abnormal epidermal morphology, Palmoplantar hype... |
ORPHA:79501 |
Candidiasis, Familial, 8 |
|
Chronic oral candidiasis, Blepharitis, Cheilitis, Seborrheic dermatitis |
OMIM:615527 |
Liver Failure, Infantile, Transient |
|
Hepatomegaly, Microvesicular hepatic steatosis, Jaundice, Macrovesicular hepatic steatosis, Decre... |
OMIM:613070 |
Ectodermal Dysplasia 1, Hypohidrotic, X-Linked |
|
Eczema, Rhinitis, Periorbital wrinkles, Thin skin, Dry skin, Hypoplastic-absent sebaceous glands |
OMIM:305100 |
Esophagitis, Eosinophilic, 2 |
|
Eosinophilia |
OMIM:613412 |
Esophagitis, Eosinophilic, 1 |
|
Eosinophilia |
OMIM:610247 |
Tubulointerstitial Nephritis And Uveitis Syndrome |
|
Normocytic anemia, Weight loss, Increased circulating IgG level, Normochromic anemia, Increased c... |
ORPHA:91500 |
Gaucher Disease Type 3 |
|
Hepatomegaly, Pancytopenia, Splenomegaly, Anemia, Increased circulating antibody level, Thrombocy... |
ORPHA:77261 |
Pachyonychia Congenita 3 |
|
Chapped lip, Plantar hyperkeratosis, Palmoplantar keratoderma, Follicular hyperkeratosis, Palmar ... |
OMIM:615726 |
Noonan Syndrome 1 |
|
Amegakaryocytic thrombocytopenia, Juvenile myelomonocytic leukemia, Short stature, Failure to thr... |
OMIM:163950 |
Lymphatic Filariasis |
|
Glomerulonephritis, Orchitis, Lymphadenitis, Knee osteoarthritis, Hypereosinophilia, Epididymitis... |
ORPHA:2035 |
Cold Agglutinin Disease |
|
Splenomegaly, Hemolytic anemia, Autoimmunity, Lymphadenopathy |
ORPHA:56425 |
Lysinuric Protein Intolerance |
|
Hepatomegaly, Hepatosplenomegaly, Anemia, Leukopenia, Decreased circulating antibody level, Abnor... |
ORPHA:470 |
Antisynthetase Syndrome |
|
Recurrent respiratory infections, Myositis, Skin rash, Autoimmunity, Elevated circulating creatin... |
ORPHA:81 |
Tyrosinemia Type 2 |
|
Hyperkeratosis, Palmoplantar keratoderma |
ORPHA:28378 |
Kawasaki Disease |
|
Leukocytosis, Cervical lymphadenopathy, Jaundice, Hepatitis, Cholecystitis, Palmoplantar erythema |
ORPHA:2331 |
Trichohepatoenteric Syndrome 1 |
|
Hepatomegaly, Increased mean platelet volume, Splenomegaly, Abnormality of the pancreas, Jaundice... |
OMIM:222470 |
Menkes Disease |
|
Osteomyelitis, Thickened skin, Atypical scarring of skin, Intrauterine growth retardation, Dry skin |
ORPHA:565 |
Microcephalic Osteodysplastic Primordial Dwarfism, Type I |
|
Failure to thrive, Disproportionate short stature, Hyperkeratosis, Severe postnatal growth retard... |
OMIM:210710 |
Neuropathy, Hereditary Sensory And Autonomic, Type Iia |
|
Acral ulceration |
OMIM:201300 |
Hypertrophic Osteoarthropathy, Primary, Autosomal Dominant |
|
Thickened skin, Acne, Seborrheic dermatitis |
OMIM:167100 |
Chikungunya |
|
Cervical lymphadenopathy, Erythema, Lymphadenopathy, Skin vesicle, Cutaneous photosensitivity, Pe... |
ORPHA:324625 |
Transgrediens Et Progrediens Palmoplantar Keratoderma |
|
Facial erythema |
ORPHA:495 |
Hereditary Sensory And Autonomic Neuropathy Type 4 |
|
Fasciitis, Osteomyelitis, Abscess, Atypical scarring of skin, Growth delay, Septic arthritis, Dry... |
ORPHA:642 |
Ifap Syndrome 2 |
|
Perioral erythema |
OMIM:619016 |
Insensitivity To Pain, Congenital, With Anhidrosis |
|
Keratitis, Osteomyelitis, Acral ulceration |
OMIM:256800 |
Immunodeficiency 56 |
|
Panhypogammaglobulinemia, Cholangitis, Cirrhosis, Chronic hepatitis due to cryptosporidium infection |
OMIM:615207 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 1 |
|
Eosinophilia |
OMIM:253600 |
22Q11.2 Deletion Syndrome |
|
Acne, Short stature, Impaired T cell function, Seborrheic dermatitis, Splenomegaly, Hypopigmented... |
ORPHA:567 |
Autosomal Dominant Hypocalcemia |
|
Dry skin, Eczema |
ORPHA:428 |
Noonan Syndrome 10 |
|
Palmoplantar cutis laxa, Hyperkeratosis, Cafe-au-lait spot, Short stature |
OMIM:616564 |
Barber-Say Syndrome |
|
Absent nipple, Redundant skin, Cryptorchidism, Hypoplastic nipples, Premature skin wrinkling, Dry... |
OMIM:209885 |
Kasabach-Merritt Syndrome |
|
Reticulocytosis, Thrombocytopenia, Abnormal lymphatic vessel morphology, Anemia, Leukopenia, Hepa... |
ORPHA:2330 |
Retinitis Pigmentosa And Erythrocytic Microcytosis |
|
Anisocytosis, Decreased mean corpuscular volume, Elliptocytosis, Pallor, Poikilocytosis, Anemia |
OMIM:616959 |
Lethal Acantholytic Erosive Disorder |
|
Intrauterine growth retardation, Acantholysis |
ORPHA:158687 |
Localized Scleroderma |
|
Erythema |
ORPHA:90289 |
Dyskeratosis Congenita, Autosomal Dominant 1 |
|
Aplastic anemia, Thrombocytopenia, Hepatic necrosis, Premature graying of hair, Leukopenia, Incre... |
OMIM:127550 |
Scalp-Ear-Nipple Syndrome |
|
Short stature, Thickened skin, Pyelonephritis, Aplasia cutis congenita, Dry skin |
OMIM:181270 |
Progeria-Short Stature-Pigmented Nevi Syndrome |
|
Neoplasm of the pancreas, T lymphocytopenia, Hepatic steatosis, Microcytic anemia |
ORPHA:2959 |
Castleman Disease |
|
Increased circulating interleukin 6 concentration, Generalized lymphadenopathy, Follicular hyperp... |
ORPHA:160 |
Gaisböck Syndrome |
|
Splenomegaly, Increased mean corpuscular hemoglobin concentration, Increased hematocrit, Elevated... |
ORPHA:90041 |
Thrombocytopenia, Anemia, And Myelofibrosis |
|
Anemia, Splenomegaly, Anisopoikilocytosis, Thrombocytopenia |
OMIM:617441 |
Lipodystrophy, Familial Partial, Type 7 |
|
Reduced subcutaneous adipose tissue, Decreased adipose tissue around neck, Small for gestational ... |
OMIM:606721 |
Oculocutaneous Albinism Type 1A |
|
Hyperkeratosis, Thickened skin |
ORPHA:79431 |
Eosinophilic Gastroenteritis |
|
Leukocytosis, Eosinophilia, Anemia |
ORPHA:2070 |
Epidermolysis Bullosa, Junctional 2C, Laryngoonychocutaneous |
|
Skin ulcer |
OMIM:245660 |
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency |
|
Hepatomegaly, Jaundice, Cholestasis, Decreased circulating antibody level, Hepatosplenomegaly, He... |
ORPHA:247598 |
Helix Syndrome |
|
Hyperparathyroidism, Dry skin |
OMIM:617671 |
Sarcoidosis, Susceptibility To, 1 |
|
Hepatomegaly, Abnormality of T cell physiology, Generalized lymphadenopathy, Pancytopenia, Medias... |
OMIM:181000 |
Focal Dermal Hypoplasia |
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Erythema, Telangiectasia of the skin |
ORPHA:2092 |
Charcot-Marie-Tooth Disease Type 4B2 |
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Penetrating foot ulcers |
ORPHA:99956 |
Intrahepatic Cholestasis Of Pregnancy |
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Skin rash, Autoimmunity, Abnormal circulating interleukin concentration, Abnormal pineal melatoni... |
ORPHA:69665 |
Marburg Hemorrhagic Fever |
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Reticulocytosis, Lymphopenia, Orchitis, Thrombocytopenia, Jaundice, Neutrophilia in presence of i... |
ORPHA:99826 |
Leukocyte Adhesion Deficiency Type Ii |
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Hepatomegaly, Neutrophilia, Microcytic anemia, Leukocytosis, Anemia, Abnormal isohemagglutinin level |
ORPHA:99843 |
Vici Syndrome |
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Decreased circulating IgG2 level, Decreased circulating IgG level |
ORPHA:1493 |
Spondyloepimetaphyseal Dysplasia, Sponastrime Type |
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Decreased circulating IgG level, Neutropenia |
OMIM:271510 |
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type) |
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Short stature, Osteomyelitis leading to amputation due to slow healing fractures, Growth delay, A... |
OMIM:256810 |
Transketolase Deficiency |
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Proportionate short stature, Conjunctivitis, Uveitis, Seborrheic dermatitis |
ORPHA:488618 |
Wiedemann-Rautenstrauch Syndrome |
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Reduced subcutaneous adipose tissue, Prominent scalp veins, Small for gestational age, Prematurel... |
OMIM:264090 |
Ablepharon Macrostomia Syndrome |
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Redundant skin, Growth delay, Excessive wrinkled skin, Thin skin, Dry skin |
ORPHA:920 |
Fabry Disease |
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Short stature, Subcutaneous nodule, Hyperkeratosis, Arthritis, Delayed puberty, Anemia |
ORPHA:324 |
Fucosidosis |
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Failure to thrive, Generalized hyperkeratosis |
ORPHA:349 |
Lassa Fever |
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Increased circulating IgM level, Jaundice |
ORPHA:99824 |
Microsporidiosis |
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Myositis, Sinusitis, Cholangitis, Abnormality of the spleen, Abnormality of the parathyroid gland... |
ORPHA:2552 |
Complement Component 5 Deficiency |
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Generalized seborrheic dermatitis |
OMIM:609536 |
De Sanctis-Cacchione Syndrome |
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Parakeratosis, Severe short stature, Hypermelanotic macule, Keratitis, Conjunctivitis, Dermal atr... |
OMIM:278800 |
Mosaic Variegated Aneuploidy Syndrome 7 With Inflammation And Tumor Predisposition |
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Hyperkeratosis, Nevus |
OMIM:620189 |
Limb-Mammary Syndrome |
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Psoriasiform dermatitis, Chronic irritative conjunctivitis, Multiple cafe-au-lait spots, Dry skin... |
ORPHA:69085 |
Myotonic Dystrophy 2 |
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Decreased circulating total IgM, Decreased circulating IgG level, Elevated circulating follicle s... |
OMIM:602668 |
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome |
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Episcleritis, Severe short stature, Eczema, Keratitis, Erythema, Cheilitis, Uveitis, Scleritis, H... |
ORPHA:2273 |
Sickle Cell Disease |
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Hemolytic anemia, Hepatomegaly, Splenomegaly, Leukocytosis, Splenic infarction, Jaundice, Choleli... |
OMIM:603903 |
Ramon Syndrome |
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Hyperkeratosis, Juvenile rheumatoid arthritis, Short stature, Decreased body weight |
OMIM:266270 |
Huriez Syndrome |
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Congenital palmoplantar hyperkeratosis, Epidermal acanthosis |
OMIM:181600 |
Cartilage-Hair Hypoplasia |
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Hepatomegaly, Abnormality of the pancreas, Decreased circulating antibody level, Neutropenia, Anemia |
ORPHA:175 |
Neuropathy, Hereditary Sensory And Autonomic, Type Vi |
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Erythema |
OMIM:614653 |
3-Methylcrotonyl-Coa Carboxylase 2 Deficiency |
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Failure to thrive, Seborrheic dermatitis |
OMIM:210210 |
Woodhouse-Sakati Syndrome |
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Decreased testicular size, Streak ovary, Scaling skin, Decreased response to growth hormone stimu... |
ORPHA:3464 |
Leprechaunism |
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Postnatal growth retardation, Thickened skin, Hyperkeratosis, Increased circulating renin level, ... |
ORPHA:508 |
Mohr-Tranebjaerg Syndrome |
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Agammaglobulinemia |
ORPHA:52368 |
Psoriasis-Related Juvenile Idiopathic Arthritis |
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Anterior uveitis, Psoriasiform dermatitis, Skin rash, Autoimmunity, Antinuclear antibody positivi... |
ORPHA:85436 |
Bartsocas-Papas Syndrome 1 |
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Skin tags, Intrauterine growth retardation, Dry skin |
OMIM:263650 |
Alpha-N-Acetylgalactosaminidase Deficiency Type 2 |
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Hyperkeratosis, Subcutaneous nodule, Papule |
ORPHA:79280 |
Orofaciodigital Syndrome Type 1 |
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Chronic otitis media, Dry skin, Milia, Lip pit |
ORPHA:2750 |
Scleromyxedema |
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Paraproteinemia, Generalized abnormality of skin, Aged leonine appearance |
ORPHA:167635 |
Calcific Aortic Disease With Immunologic Abnormalities, Familial |
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Increased circulating antibody level |
OMIM:114065 |
Chondrodysplasia Punctata, Autosomal Dominant |
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Hyperkeratosis with erythema, Moderate postnatal growth retardation |
OMIM:118650 |
Cowden Syndrome |
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Macule, Short stature, Subcutaneous nodule, Hypopigmented skin patches, Melanocytic nevus, Palmop... |
ORPHA:201 |
Exercise-Induced Malignant Hyperthermia |
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Dry skin, Elevated circulating creatine kinase concentration, Thrombocytopenia |
ORPHA:466650 |
Congenital Analbuminemia |
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Small for gestational age, Increased circulating antibody level, Obesity |
ORPHA:86816 |
Hypothyroidism, Congenital, Nongoitrous, 2 |
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Growth delay, Dry skin, Increased circulating thyroglobulin level |
OMIM:218700 |
Chronic Thromboembolic Pulmonary Hypertension |
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Antiphospholipid antibody positivity, Osteomyelitis, Autoimmunity, Elevated circulating C-reactiv... |
ORPHA:70591 |
Cryptococcosis |
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Lymphoid leukemia, Osteomyelitis, Autoimmunity, Pneumonia, Mediastinal lymphadenopathy, Peritonit... |
ORPHA:1546 |
Koolen-De Vries Syndrome Due To A Point Mutation |
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Numerous nevi, Sacral dimple, Small for gestational age, Eczema, Postnatal growth retardation, Hy... |
ORPHA:363965 |
17Q21.31 Microdeletion Syndrome |
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Numerous nevi, Sacral dimple, Small for gestational age, Eczema, Postnatal growth retardation, Hy... |
ORPHA:363958 |
Intellectual Disability-Seizures-Macrocephaly-Obesity Syndrome |
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Obesity, Failure to thrive, Eczema, Seborrheic dermatitis |
ORPHA:369950 |
Corneodermatoosseous Syndrome |
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Erythema |
ORPHA:3194 |
Microphthalmia, Syndromic 9 |
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Neonatal death, Cryptorchidism, Hypoplastic spleen, Multilobulated spleen |
OMIM:601186 |
Palmoplantar Hyperkeratosis With Squamous Cell Carcinoma Of Skin And 46,Xx Sex Reversal |
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Orthokeratotic hyperkeratosis, Palmoplantar keratoderma, Sclerodactyly |
OMIM:610644 |
Digeorge Syndrome |
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Acne, Short stature, Impaired T cell function, Seborrheic dermatitis, Splenomegaly, Recurrent pne... |
OMIM:188400 |
Metaphyseal Chondromatosis With D-2-Hydroxyglutaric Aciduria |
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Failure to thrive, Short stature, Hyperpigmented papule, Recurrent pneumonia, Acute myelomonocyti... |
ORPHA:99646 |
Chand Syndrome |
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Skin erosion, Commissural lip pit, Dry skin |
ORPHA:1401 |
Combined Immunodeficiency-Enteropathy Spectrum |
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Autoimmune hemolytic anemia, Psoriasiform dermatitis, Autoimmunity, Hepatitis, Rectal abscess, Hy... |
ORPHA:436252 |
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 1 |
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Recurrent pneumonia, Excessive wrinkled skin, Thin skin, Follicular hyperkeratosis, Molluscoid ps... |
OMIM:225400 |
Japanese Encephalitis |
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Increased circulating IgM level, Neutrophilia, Increased circulating antibody level |
ORPHA:79139 |
Trichorhinophalangeal Syndrome, Type Ii |
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Chronic gastritis, Mild postnatal growth retardation, Redundant skin in infancy, Recurrent pneumo... |
OMIM:150230 |
Alzahrani-Kuwahara Syndrome |
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Dry skin, Short stature, Eczema |
OMIM:619268 |
Warburg-Cinotti Syndrome |
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Erythema, Poor wound healing, Sterile abscess |
OMIM:618175 |
Relapsing Polychondritis |
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Erythema, Hepatitis, Purpura |
ORPHA:728 |
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2 |
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Seborrheic dermatitis, Large for gestational age, Ichthyosis |
OMIM:300868 |
Scorpion Envenomation |
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Acute pancreatitis, Erythema, Purpura |
ORPHA:466677 |
Microphthalmia With Linear Skin Defects Syndrome |
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Failure to thrive, Erythema, Abnormal testis morphology |
ORPHA:2556 |
Adenocarcinoma Of The Anal Canal |
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Skin ulcer |
ORPHA:424016 |
Sjogren Syndrome |
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Tubulointerstitial nephritis, Keratoconjunctivitis sicca, Autoimmunity, Rheumatoid arthritis |
OMIM:270150 |
Gaucher Disease |
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Hepatomegaly, Pancytopenia, Splenomegaly, Hepatitis, Anemia, Increased circulating antibody level... |
ORPHA:355 |
Hereditary Chronic Pancreatitis |
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Leukocytosis, Recurrent pancreatitis, Pancreatic calcification, Jaundice |
ORPHA:676 |
Alacrima, Achalasia, And Impaired Intellectual Development Syndrome |
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Hyperkeratosis |
OMIM:615510 |
Behcet Syndrome |
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Erythema |
OMIM:109650 |
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 2 |
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Atrophic scars, Follicular hyperkeratosis, Cutis laxa |
OMIM:614557 |
Wolfram Syndrome 2 |
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Impaired collagen-induced platelet aggregation, Decreased circulating antibody level |
OMIM:604928 |
Encephalitis Lethargica |
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Increased circulating antibody level |
ORPHA:83600 |
Ablepharon-Macrostomia Syndrome |
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Premature skin wrinkling, Dry skin, Redundant skin, Thin skin |
OMIM:200110 |
Yellow Fever |
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Increased circulating interleukin 6 concentration, Neutrophilia, Acute pancreatitis, Leukocytosis... |
ORPHA:99829 |
Nk-Cell Enteropathy |
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Increased T cell count |
ORPHA:263665 |
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 2 |
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Conjunctival telangiectasia, Increased circulating antibody level |
OMIM:606002 |
Velocardiofacial Syndrome |
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Hypoparathyroidism, Impaired T cell function, Cryptorchidism, Recurrent infections, Hypocalcemia |
OMIM:192430 |
Loeffler Endocarditis |
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Eosinophilia |
ORPHA:75566 |
Spondyloepimetaphyseal Dysplasia, Krakow Type |
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Decreased circulating total IgM, Patent ductus arteriosus, Annular pancreas |
OMIM:618162 |
Aapoaiv Amyloidosis |
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Paraproteinemia |
ORPHA:439232 |
6Q Terminal Deletion Syndrome |
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Hyperkeratosis, Failure to thrive, Obesity |
ORPHA:75857 |
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome |
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Hypoparathyroidism, Abnormality of T cell physiology, Psoriasiform dermatitis, Parathyroid hypopl... |
ORPHA:2237 |
Baller-Gerold Syndrome |
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Erythema, Anomalous splenoportal venous system |
OMIM:218600 |
Distal Deletion 19P |
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Decreased circulating antibody level |
ORPHA:96129 |
Eosinophilic Granulomatosis With Polyangiitis |
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Eosinophilia, Purpura |
ORPHA:183 |
Neutral Lipid Storage Disease With Ichthyosis |
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Abnormal granulocyte morphology, Short stature |
ORPHA:98907 |
Primary Triglyceride Deposit Cardiomyovasculopathy |
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Inflammatory abnormality of the skin, Elevated circulating creatine kinase concentration, Splenom... |
ORPHA:565612 |
Sympathetic Ophthalmia |
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Erythema |
ORPHA:79098 |
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb |
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Palmoplantar erythema, Failure to thrive, Truncal obesity |
OMIM:612474 |
Pseudoxanthoma Elasticum |
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Civatte bodies, Cutis laxa |
OMIM:264800 |
Kyphoscoliotic Ehlers-Danlos Syndrome |
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Atypical scarring of skin, Short stature, Thin skin, Follicular hyperkeratosis |
ORPHA:536545 |
Sponastrime Dysplasia |
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Decreased circulating antibody level, Neutropenia |
ORPHA:93357 |
Diarrhea 10, Protein-Losing Enteropathy Type |
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Decreased circulating antibody level |
OMIM:618183 |
Epidermolysis Bullosa, Junctional 7, With Interstitial Lung Disease And Nephrotic Syndrome |
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Erythema, Fragile skin |
OMIM:614748 |
Sarcoidosis |
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Hemolytic anemia, Parotitis, Eosinophilia, Hypercalcemia, Maculopapular exanthema, Erythema nodos... |
ORPHA:797 |
Split Cord Malformation |
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Skin dimple, Penetrating foot ulcers |
ORPHA:573278 |
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1 |
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Hyperkeratosis, Blepharitis, Thin skin |
OMIM:129900 |
Proteus Syndrome |
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Thymus hyperplasia, Epidermal nevus, Cachexia, Splenomegaly, Thickened skin, Subcutaneous nodule,... |
ORPHA:744 |
Cysticercosis |
|
Increased circulating antibody level |
ORPHA:1560 |
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 3 |
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Hyperkeratosis, Blepharitis |
OMIM:604292 |
Progeroid Short Stature With Pigmented Nevi |
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Allergic rhinitis, Allergic conjunctivitis, Impaired T cell function, Recurrent viral infections |
OMIM:176690 |
Global Developmental Delay-Osteopenia-Ectodermal Defect Syndrome |
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Orthokeratotic hyperkeratosis, Epidermal thickening, Thickened skin |
ORPHA:73223 |
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome |
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Absent gallbladder, Decreased circulating IgG level, Failure to thrive in infancy, Secretory IgA ... |
ORPHA:500150 |
Mowat-Wilson Syndrome Due To Monosomy 2Q22 |
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Asplenia, Decreased circulating antibody level |
ORPHA:261537 |
Mowat-Wilson Syndrome |
|
Asplenia, Patent ductus arteriosus, Decreased circulating antibody level |
ORPHA:2152 |
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation |
|
Asplenia, Patent ductus arteriosus, Decreased circulating antibody level |
ORPHA:261552 |
Tropical Endomyocardial Fibrosis |
|
Splenomegaly, Eosinophilia, Hepatomegaly |
ORPHA:75565 |