Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency |
|
Agammaglobulinemia, Hypoplasia of the thymus, Lymphopenia |
OMIM:200900 |
Immunodeficiency 24 |
|
Reduced proportion of mucosal-associated invariant T cells, Decreased CD4:CD8 ratio, Decreased ci... |
OMIM:615897 |
Reticular Dysgenesis |
|
Leukopenia, Hypoplasia of the thymus, Lack of T cell function, Lymphopenia, Impaired T cell funct... |
OMIM:267500 |
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome |
|
Hypoplasia of the thymus, Small for gestational age, Decreased proportion of CD8-positive T cells... |
OMIM:617241 |
Immunodeficiency 18 |
|
Defective T cell proliferation, Lymphopenia, Decreased proportion of CD3-positive T cells |
OMIM:615615 |
Severe Combined Immunodeficiency, X-Linked |
|
Hypoplasia of the thymus, T lymphocytopenia, Decreased circulating total IgM, Reduced natural kil... |
OMIM:300400 |
Immunodeficiency 48 |
|
Panhypogammaglobulinemia, Failure to thrive, Absence of CD8-positive T cells, Hepatomegaly, Splen... |
OMIM:269840 |
Severe Combined Immunodeficiency Due To Foxn1 Deficiency |
|
Congenital alopecia totalis, Ridged nail, T lymphocytopenia, Nail pits |
ORPHA:169095 |
Microphthalmia-Ankyloblepharon-Intellectual Disability Syndrome |
|
Microphthalmia, Anophthalmia |
ORPHA:85275 |
Immunodeficiency, Partial Combined, With Absence Of Hla Determinants And Beta-2-Microglobulin From Lymphocytes |
|
T lymphocytopenia, Decreased circulating IgG level |
OMIM:242870 |
Combined Immunodeficiency, X-Linked |
|
Decreased proportion of CD8-positive T cells, Decreased circulating IgG level, Decreased proporti... |
OMIM:312863 |
Immunodeficiency 15A |
|
Decreased proportion of CD8-positive T cells, Cutaneous abscess, Decreased proportion of memory B... |
OMIM:618204 |
Immunodeficiency 64 With Lymphoproliferation |
|
Decreased lymphocyte proliferation in response to mitogen, Defective T cell proliferation, Decrea... |
OMIM:618534 |
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency |
|
Alopecia, T lymphocytopenia, Decreased lymphocyte proliferation in response to mitogen, Increased... |
ORPHA:169154 |
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant |
|
T lymphocytopenia, Increased proportion of transitional B cells, Decreased circulating IgG2 level... |
OMIM:615513 |
Wiskott-Aldrich Syndrome 2 |
|
Defective T cell proliferation, Thrombocytopenia, Decreased proportion of CD8-positive T cells, R... |
OMIM:614493 |
Immunodeficiency 95 |
|
Decreased circulating IgG3 level, Lymphopenia, Increased circulating IgG3 level |
OMIM:619773 |
Immunodeficiency, Ovarian Dysgenesis, And Pulmonary Fibrosis |
|
Decreased circulating total IgM, Decreased proportion of CD8-positive T cells, Abnormality of the... |
OMIM:611926 |
Immunodeficiency 72 With Autoinflammation And Lymphoproliferation |
|
Increased B cell count, Increased proportion of memory T cells, Hepatosplenomegaly, Increased cir... |
OMIM:618982 |
Immunodeficiency 105 |
|
Increased B cell count, Reduced natural killer cell count, T lymphocytopenia, B lymphocytopenia, ... |
OMIM:619924 |
Microphthalmia, Isolated 1 |
|
Microphthalmia, Anophthalmia |
OMIM:251600 |
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia |
|
Decreased circulating total IgM, B lymphocytopenia, Abnormally low T cell receptor excision circl... |
OMIM:618987 |
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency |
|
T lymphocytopenia, B lymphocytopenia, Lack of T cell function, Lymphopenia, Failure to thrive, Ab... |
ORPHA:277 |
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome |
|
T lymphocytopenia, Hepatosplenomegaly, Hepatomegaly, Abnormal circulating interferon-gamma concen... |
ORPHA:79124 |
Cernunnos-Xlf Deficiency |
|
Anemia, T lymphocytopenia, B lymphocytopenia, Decreased circulating antibody level, Lymphopenia, ... |
ORPHA:169079 |
Combined Cellular And Humoral Immune Defects With Granulomas |
|
T lymphocytopenia, B lymphocytopenia, Decreased circulating IgG level |
OMIM:233650 |
Immunodeficiency 97 With Autoinflammation |
|
Decreased proportion of CD8-positive, alpha-beta TEMRA T cells, Hepatosplenomegaly, Eosinophilia,... |
OMIM:619802 |
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells |
|
Hypersplenism, Pancytopenia, Cutaneous anergy, Decreased helper T cell proportion, Splenomegaly |
OMIM:183350 |
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity |
|
Decreased CD4:CD8 ratio, Ichthyosis, Recurrent urinary tract infections, Autoimmune hemolytic ane... |
OMIM:618495 |
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy |
|
Reduced natural killer cell count, Hypoplasia of the thymus, T lymphocytopenia, B lymphocytopenia... |
OMIM:619313 |
Immunodeficiency 104 |
|
T lymphocytopenia, Lymphadenopathy, Failure to thrive secondary to recurrent infections, Hepatome... |
OMIM:608971 |
Ataxia-Telangiectasia |
|
Hypoplasia of the thymus, T lymphocytopenia, Choreoathetosis, Acute lymphoblastic leukemia, Decre... |
OMIM:208900 |
Caspase 8 Deficiency |
|
Decreased CD4:CD8 ratio, Decreased circulating total IgM, Decreased T cell activation, Short stat... |
OMIM:607271 |
Mu-Heavy Chain Disease |
|
Anemia, Weight loss, Increased circulating antibody level, Abnormal B cell count, Lymphadenopathy... |
ORPHA:100024 |
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia |
|
Decreased CD4:CD8 ratio, Decreased T cell activation, Decreased proportion of CD4-positive T cell... |
OMIM:300853 |
Autoimmune Lymphoproliferative Syndrome |
|
Chronic noninfectious lymphadenopathy, Coombs-positive hemolytic anemia, Neutropenia in presence ... |
OMIM:601859 |
Agammaglobulinemia 3, Autosomal Recessive |
|
Abnormal T cell morphology, Absent isohemagglutinin level, Absent circulating B cells, Failure to... |
OMIM:613501 |
Immunodeficiency 76 |
|
T lymphocytopenia, B lymphocytopenia, Lymphopenia, Lymphadenopathy, Growth delay, Splenomegaly |
OMIM:619164 |
Agammaglobulinemia 8B, Autosomal Recessive |
|
Anemia, Decreased circulating total IgM, B lymphocytopenia, Decreased proportion of CD8-positive,... |
OMIM:619824 |
Proteasome-Associated Autoinflammatory Syndrome 2 |
|
Increased CD4:CD8 ratio, B lymphocytopenia, Failure to thrive, Lymphadenopathy, Increased circula... |
OMIM:618048 |
Griscelli Syndrome, Type 2 |
|
Spasticity, Hepatosplenomegaly, Silver-gray hair, Melanin pigment aggregation in hair shafts, Hem... |
OMIM:607624 |
Vitamin B12-Unresponsive Methylmalonic Acidemia |
|
Leukopenia, Anemia, Paraparesis, Choreoathetosis, Ataxia, Thrombocytopenia, Tetraparesis, Macrocy... |
ORPHA:27 |
T-Cell Immunodeficiency, Congenital Alopecia, And Nail Dystrophy |
|
Alopecia, T lymphocytopenia, Nail pits, Decreased helper T cell proportion, Ridged nail, Nail dys... |
OMIM:601705 |
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive |
|
Panhypogammaglobulinemia, T lymphocytopenia, B lymphocytopenia, Failure to thrive, Failure to thr... |
OMIM:601457 |
Immunodeficiency 62 |
|
Complete or near-complete absence of specific antibody response to tetanus vaccine, Decreased cir... |
OMIM:618459 |
Autoimmune Lymphoproliferative Syndrome, Type Iia |
|
Coombs-positive hemolytic anemia, Eosinophilia, Hepatomegaly, Elevated proportion of CD4-negative... |
OMIM:603909 |
Immunodeficiency 19 |
|
Failure to thrive, Abnormal natural killer cell morphology, T lymphocytopenia, Abnormal B cell mo... |
OMIM:615617 |
Histiocytosis, Familial Lipochrome |
|
Increased circulating antibody level, Histiocytosis |
OMIM:235900 |
Omenn Syndrome |
|
Alopecia, Anemia, Thickened skin, Hypoplasia of the thymus, B lymphocytopenia, Severe B lymphocyt... |
OMIM:603554 |
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation |
|
Genital ulcers, Panhypogammaglobulinemia, B lymphocytopenia, Generalized lymphadenopathy, Lymphop... |
OMIM:602450 |
Immunodeficiency 78 With Autoimmunity And Developmental Delay |
|
Neutropenia in presence of anti-neutropil antibodies, Increased circulating IgG level, Autoimmune... |
OMIM:619220 |
Microphthalmia, Isolated, With Coloboma 10 |
|
Microphthalmia, Anophthalmia |
OMIM:616428 |
Immunodeficiency 8 With Lymphoproliferation |
|
Complete or near-complete absence of specific antibody response to tetanus vaccine, Lymphopenia, ... |
OMIM:615401 |
Immunodeficiency 103, Susceptibility To Fungal Infections |
|
Hypereosinophilia, Abnormal natural killer cell count, Abnormal proportion of CD8-positive T cell... |
OMIM:212050 |
Combined Immunodeficiency Due To Zap70 Deficiency |
|
Abnormal lymph node morphology, Lymphadenitis, Decreased lymphocyte proliferation in response to ... |
ORPHA:911 |
Immunodeficiency 102 |
|
Leukopenia, Anemia, Reduced natural killer cell count, Nodular regenerative hyperplasia of liver,... |
OMIM:301082 |
Microphthalmia, Isolated, With Coloboma 5 |
|
Microphthalmia, Bilateral microphthalmos, Anophthalmia |
OMIM:611638 |
Smith-Kingsmore Syndrome |
|
Diastasis recti, Curly hair, Rhizomelia, Large for gestational age, Decreased circulating IgA lev... |
OMIM:616638 |
Agammaglobulinemia 8A, Autosomal Dominant |
|
Agammaglobulinemia, B lymphocytopenia |
OMIM:616941 |
T-Cell Lymphopenia, Infantile, With Or Without Nail Dystrophy, Autosomal Dominant |
|
Nail dystrophy, T lymphocytopenia, Abnormally low T cell receptor excision circle level |
OMIM:618806 |
Immunodeficiency Due To Selective Anti-Polysaccharide Antibody Deficiency |
|
Abnormal circulating IgG level, Complete or near-complete absence of specific antibody response t... |
ORPHA:70593 |
Autoimmune Lymphoproliferative Syndrome, Type Iii |
|
Generalized lymphadenopathy, Hepatosplenomegaly, Hepatomegaly, Splenomegaly, Increased B cell cou... |
OMIM:615559 |
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency |
|
Reduced natural killer cell count, Decreased proportion of CD4-positive helper T cells, Decreased... |
ORPHA:276 |
Immunodeficiency, Common Variable, 1 |
|
Decreased circulating total IgM, B lymphocytopenia, Neutropenia in presence of anti-neutropil ant... |
OMIM:607594 |
Immunodeficiency 85 And Autoimmunity |
|
Reduced natural killer cell count, T lymphocytopenia, Decreased circulating total IgM, Lymphopeni... |
OMIM:619510 |
Agammaglobulinemia 2, Autosomal Recessive |
|
Abnormal T cell morphology, Decreased circulating total IgM, Absent circulating B cells, Decrease... |
OMIM:613500 |
Cd8 Deficiency, Familial |
|
Absence of CD8-positive T cells |
OMIM:608957 |
Agammaglobulinemia 10, Autosomal Dominant |
|
Decreased circulating total IgM, Type I diabetes mellitus, Absent circulating B cells, Decreased ... |
OMIM:619707 |
Immunodeficiency 70 |
|
Decreased circulating total IgM, B lymphocytopenia, Decreased circulating antibody level, Decreas... |
OMIM:618969 |
Immunodeficiency 27A |
|
Anemia, Weight loss, Increased circulating IgG level, Hepatosplenomegaly, Lymphadenopathy, Thromb... |
OMIM:209950 |
Immunodeficiency 17 |
|
Chronic decreased cirulating IgG2, T lymphocytopenia, Abnormal B cell morphology, Decreased propo... |
OMIM:615607 |
Immunodeficiency 25 |
|
Complete or near-complete absence of specific antibody response to tetanus vaccine, T lymphocytop... |
OMIM:610163 |
Immunodeficiency 57 With Autoinflammation |
|
Reduced natural killer cell count, T lymphocytopenia, B lymphocytopenia, Perianal abscess, Decrea... |
OMIM:618108 |
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis |
|
Increased circulating antibody level, Lymphopenia, Autoimmune hemolytic anemia, Glomerulonephriti... |
OMIM:247800 |
Immunodeficiency 36 With Lymphoproliferation |
|
Chronic lymphatic leukemia, Increased proportion of transitional B cells, B lymphocytopenia, Shor... |
OMIM:616005 |
Immunodeficiency, Common Variable, 11 |
|
Failure to thrive, Decreased proportion of class-switched memory B cells, Growth delay, Increased... |
OMIM:615767 |
Immunodeficiency 84 |
|
Splenomegaly, Perianal abscess, B lymphocytopenia |
OMIM:619437 |
Immunodeficiency 52 |
|
Increased proportion of gamma-delta T cells, Decreased circulating antibody level, Coombs-positiv... |
OMIM:617514 |
Agammaglobulinemia 6, Autosomal Recessive |
|
Abnormal T cell morphology, Decreased circulating total IgM, B lymphocytopenia, Decreased circula... |
OMIM:612692 |
T-Cell Immunodeficiency With Thymic Aplasia |
|
T lymphocytopenia, Abnormally low T cell receptor excision circle level, Lymphopenia, Hepatosplen... |
OMIM:242700 |
Syndromic Diarrhea |
|
Hypothyroidism, Hypoplasia of the thymus, Hepatoblastoma, Hepatomegaly, Splenomegaly, Hepatic fib... |
ORPHA:84064 |
Immunoerythromyeloid Hypoplasia |
|
Erythroid hypoplasia, Decreased circulating IgG level |
OMIM:242880 |
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity |
|
Hypothyroidism, Decreased CD4:CD8 ratio, Hemolytic anemia, T lymphocytopenia, B lymphocytopenia, ... |
OMIM:606367 |
Immunodeficiency 44 |
|
Abnormal circulating IgG level, Decreased circulating IgA level, Decreased circulating total IgM,... |
OMIM:616636 |
Immunodeficiency 50 |
|
Recurrent urinary tract infections, Neutropenia, Lymphopenia, Decreased circulating antibody level |
OMIM:300988 |
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia |
|
Lymphadenitis, Leukopenia, T lymphocytopenia, Monocytopenia, B lymphocytopenia, Impaired neutroph... |
OMIM:618986 |
Immunodeficiency, Common Variable, 6 |
|
Nephrotic range proteinuria, Hydronephrosis, Chronic decreased circulating total IgG, Complete or... |
OMIM:613496 |
Immunodeficiency 99 With Hypogammaglobulinemia And Autoimmune Cytopenias |
|
Decreased proportion of CD4+CD25+ regulatory T cells, Decreased circulating antibody level, Absen... |
OMIM:619846 |
Gastrointestinal Defects And Immunodeficiency Syndrome 1 |
|
Hypoplasia of the thymus, Decreased circulating antibody level, Interface hepatitis, Lymphopenia,... |
OMIM:243150 |
Immunodeficiency 14B, Autosomal Recessive |
|
Decreased circulating total IgM, B lymphocytopenia, Reduced natural killer cell activity, Neutrop... |
OMIM:619281 |
Noonan Syndrome 14 |
|
Hyperhidrosis, Sparse eyebrow, Curly hair, Short stature, Low posterior hairline, Lymphopenia, Cr... |
OMIM:619745 |
Fryns Microphthalmia Syndrome |
|
Microphthalmia, Anophthalmia, Neural tube defect |
OMIM:600776 |
Lymphoma, Hodgkin, Classic |
|
Impaired lymphocyte transformation with phytohemagglutinin, Polyclonal elevation of IgM |
OMIM:236000 |
Hyper-Ige Recurrent Infection Syndrome 5, Autosomal Recessive |
|
Decreased circulating total IgM, Increased circulating interleukin 6 concentration, Cutaneous abs... |
OMIM:618944 |
Combined Immunodeficiency Due To Dock8 Deficiency |
|
Increased circulating IgE level, T lymphocytopenia, B lymphocytopenia |
ORPHA:217390 |
Trichothiodystrophy 3, Photosensitive |
|
Ichthyosis, Tiger tail banding, Short stature, Trichorrhexis nodosa, Brittle hair, Bilateral cryp... |
OMIM:616395 |
Neutropenia, Severe Congenital, 5, Autosomal Recessive |
|
Leukopenia, Anemia, Increased circulating antibody level, Enlarged kidney, Failure to thrive, Hep... |
OMIM:615285 |
22q11 deletion syndrome (Velocardiofacial / DiGeorge syndrome) |
|
T lymphocytopenia |
DECIPHER:16 |
Braddock-Carey Syndrome 1 |
|
Multicystic kidney dysplasia, Curly hair, Spastic diplegia, Camptodactyly, Growth delay, Thromboc... |
OMIM:619980 |
Progressive Multifocal Leukoencephalopathy |
|
Gait ataxia, Parkinsonism, Abnormal proportion of CD4-positive T cells, Decreased proportion of C... |
ORPHA:217260 |
Immunodeficiency, Common Variable, 13 |
|
Acute lymphoblastic leukemia, Pancytopenia, B lymphocytopenia, Decreased circulating antibody level |
OMIM:616873 |
Hyper-Ige Recurrent Infection Syndrome 2, Autosomal Recessive |
|
Reduced natural killer cell count, Decreased circulating total IgM, Increased circulating IgG lev... |
OMIM:243700 |
Noonan Syndrome 6 |
|
Curly hair, Short stature, Long eyebrows, Juvenile myelomonocytic leukemia, Growth delay, Cryptor... |
OMIM:613224 |
Leukodystrophy, Hypomyelinating, 24 |
|
Hypothyroidism, Flexion contracture, B lymphocytopenia, Severe short stature, Tongue fasciculations |
OMIM:619851 |
Neutropenia, Chronic Familial |
|
Increased circulating antibody level, Neutropenia |
OMIM:162700 |
Ataxia-Telangiectasia |
|
Spasticity, Abnormal testis morphology, Decreased circulating antibody level, Aplasia/Hypoplasia ... |
ORPHA:100 |
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2 |
|
Decreased circulating total IgM, B lymphocytopenia, Decreased circulating antibody level, Decreas... |
OMIM:614069 |
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency |
|
Decreased circulating total IgM, B lymphocytopenia, Absent specific antibody response, Decreased ... |
OMIM:102700 |
Transcobalamin Deficiency |
|
Methylmalonic aciduria, Decreased circulating total IgM, Decreased circulating antibody level, Ac... |
ORPHA:859 |
Sting-Associated Vasculopathy, Infantile-Onset |
|
Leukopenia, Anemia, Periungual erythema, Lymphopenia, Myositis, Failure to thrive, Nailfold capil... |
OMIM:615934 |
Autoimmune Disease, Multisystem, Infantile-Onset, 2 |
|
Increased CD4:CD8 ratio, Nephrotic syndrome, Podocyte foot process effacement, Minimal change glo... |
OMIM:617006 |
B-Cell Expansion With Nfkb And T-Cell Anergy |
|
Increased B cell count, Decreased specific antibody response to polysaccharide vaccine, Decreased... |
OMIM:616452 |
Selective Igm Deficiency |
|
Lymphadenitis, Decreased circulating IgG level, Decreased circulating total IgM, Thyroid carcinom... |
ORPHA:331235 |
Microphthalmia, Syndromic 16 |
|
Microphthalmia, Anophthalmia |
OMIM:611038 |
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency |
|
Lymphadenitis, Abnormal natural killer cell count, Decreased circulating total IgM, Decreased lym... |
ORPHA:331206 |
Trichohepatoenteric Syndrome 1 |
|
Galactosuria, Hepatomegaly, Renal cortical microcysts, Sparse hair, Splenomegaly, Hepatic fibrosi... |
OMIM:222470 |
Neutropenia, Severe Congenital, 4, Autosomal Recessive |
|
Hypoplasia of the thymus, Perianal abscess, Hepatosplenomegaly, Hepatomegaly, Thrombocytopenia, S... |
OMIM:612541 |
Lymphangiectasia, Intestinal |
|
Lymphopenia, Stillbirth, Abnormal hair morphology, Intestinal lymphangiectasia, Decreased circula... |
OMIM:152800 |
Classic Mycosis Fungoides |
|
Alopecia, Abnormality of the nail, Lymphadenopathy, Hepatomegaly, Hyperkeratosis, Splenomegaly, A... |
ORPHA:2584 |
Pgm3-Cdg |
|
T lymphocytopenia, Reduced antigen-specific T cell proliferation, Bone marrow hypocellularity, Eo... |
ORPHA:443811 |
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency |
|
T lymphocytopenia, B lymphocytopenia, Decreased circulating total IgM, Lack of T cell function, D... |
ORPHA:35078 |
Immunodeficiency By Defective Expression Of Mhc Class Ii |
|
Gait ataxia, Panhypogammaglobulinemia, T lymphocytopenia, Lack of T cell function, Decreased circ... |
ORPHA:572 |
Autoinflammation With Arthritis And Dyskeratosis |
|
Hypereosinophilia, Thyroiditis, Palmoplantar hyperkeratosis, Autoimmune hemolytic anemia, Failure... |
OMIM:617388 |
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative |
|
Panhypogammaglobulinemia, T lymphocytopenia, Abnormality of B cell physiology, Lymphopenia, Absen... |
OMIM:600802 |
Noonan Syndrome 4 |
|
High anterior hairline, Sparse eyebrow, Curly hair, Short stature, Large for gestational age, Cry... |
OMIM:610733 |
Subacute Inflammatory Demyelinating Polyneuropathy |
|
Choreoathetosis, Abnormality of the calf musculature, Tremor, Frequent falls, Leukocytosis, Incre... |
ORPHA:206594 |
Ras-Associated Autoimmune Leukoproliferative Disorder |
|
Splenomegaly, Hemolytic anemia, Increased circulating antibody level, Lymphocytosis, Pancytopenia... |
OMIM:614470 |
Boutonneuse Fever |
|
Leukopenia, Renal insufficiency, Lymphadenopathy, Increased circulating IgM level, Cervical lymph... |
ORPHA:83313 |
Immunodeficiency 42 |
|
Hypoplasia of the thymus, Splenomegaly, Hepatomegaly |
OMIM:616622 |
Macroglobulinemia, Waldenstrom, Susceptibility To, 1 |
|
Impaired lymphocyte transformation with phytohemagglutinin, Polyclonal elevation of IgM, Monoclon... |
OMIM:153600 |
Purine Nucleoside Phosphorylase Deficiency |
|
Decreased lymphocyte proliferation in response to mitogen, Spastic diplegia, Recurrent urinary tr... |
OMIM:613179 |
Persistent Polyclonal B-Cell Lymphocytosis |
|
Lymphocytosis, Decreased circulating total IgM, Splenomegaly, Hepatomegaly |
OMIM:606445 |
Anencephaly 2 |
|
Anencephaly, Anophthalmia |
OMIM:619452 |
Immunodeficiency 13 |
|
Decreased CD4:CD8 ratio, T lymphocytopenia, B lymphocytopenia, Lymphopenia, Decreased proportion ... |
OMIM:615518 |
Immunodeficiency With Hyper-Igm, Type 3 |
|
Impaired Ig class switch recombination, Decreased circulating IgE, Decreased circulating IgA leve... |
OMIM:606843 |
Autoimmune Lymphoproliferative Syndrome |
|
Coombs-positive hemolytic anemia, Hepatocellular carcinoma, Reticulocytosis, Glomerulonephritis, ... |
ORPHA:3261 |
Macrocephaly/Autism Syndrome |
|
Decreased circulating antibody level, Large for gestational age, Hydrocele testis, Lymphopenia, P... |
OMIM:605309 |
Immunodeficiency, Common Variable, 3 |
|
Chronic decreased circulating total IgG, Decreased circulating total IgM, Reduced isohemagglutini... |
OMIM:613493 |
Neurodevelopmental Disorder With Facial Dysmorphism, Absent Language, And Pseudo-Pelger-Huet Anomaly |
|
Sparse eyebrow, Curly hair, Synophrys, Hyposegmentation of neutrophil nuclei, Sparse hair |
OMIM:620075 |
Immunodeficiency 11 |
|
Monocytopenia, Decreased proportion of CD4+CD25+ regulatory T cells, Decreased circulating antibo... |
OMIM:615206 |
Hepatic Venoocclusive Disease With Immunodeficiency |
|
Absence of lymph node germinal center, Abnormality of the liver, Decreased circulating IgG level |
OMIM:235550 |
Igg4-Related Pachymeningitis |
|
Lymphadenitis, Increased circulating IgG4 level, Lower limb muscle weakness, Paraparesis, Nephrit... |
ORPHA:449427 |
Onychotrichodysplasia And Neutropenia |
|
Chronic neutropenia, Curly hair, Trichorrhexis nodosa, Lymphocytosis, Sparse pubic hair, Hypoplas... |
OMIM:258360 |
Obesity Due To Congenital Leptin Deficiency |
|
Primary amenorrhea, Hyperinsulinemia, Decreased T cell activation, Decreased serum estradiol, Abs... |
ORPHA:66628 |
Immunodeficiency 93 And Hypertrophic Cardiomyopathy |
|
Decreased circulating total IgM, B lymphocytopenia, Absent circulating B cells, Agammaglobulinemi... |
OMIM:619705 |
Immunodeficiency 98 With Autoinflammation, X-Linked |
|
B lymphocytopenia, Type I diabetes mellitus, Autoimmune hemolytic anemia, Lymphadenopathy, Hemoph... |
OMIM:301078 |
Agammaglobulinemia 4, Autosomal Recessive |
|
Abnormal T cell morphology, Decreased circulating total IgM, Agammaglobulinemia, Decreased circul... |
OMIM:613502 |
Roifman Syndrome |
|
Hip contracture, Decreased T cell activation, Short stature, Decreased circulating antibody level... |
ORPHA:353298 |
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay |
|
Aminoaciduria, B lymphocytopenia, Decreased circulating antibody level, Brittle hair, Sideroblast... |
OMIM:616084 |
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1 |
|
Reduced natural killer cell count, T lymphocytopenia, Short stature, Macroglossia, Failure to thr... |
OMIM:242860 |
Mirage Syndrome |
|
Patent ductus arteriosus, Leukopenia, Anemia, Decreased body weight, Short stature, Microphallus,... |
OMIM:617053 |
Obesity Due To Leptin Receptor Gene Deficiency |
|
Primary amenorrhea, Hyperinsulinemia, Decreased T cell activation, Decreased serum estradiol, Abs... |
ORPHA:179494 |
Immunodeficiency 43 |
|
Reduced natural killer cell count, Decreased specific antibody response to polysaccharide vaccine... |
OMIM:241600 |
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome |
|
Hypereosinophilia, T lymphocytopenia, Decreased circulating total IgM, Decreased lymphocyte proli... |
ORPHA:508533 |
Immunodeficiency 26 With Or Without Neurologic Abnormalities |
|
T lymphocytopenia, B lymphocytopenia, Abnormal natural killer cell morphology, Intrauterine growt... |
OMIM:615966 |
Immunodeficiency 68 |
|
Lymphadenitis, Abnormal natural killer cell count, T lymphocytopenia, B lymphocytopenia, Abscess |
OMIM:612260 |
Copper Deficiency, Familial Benign |
|
Failure to thrive, Anemia, Curly hair, Early balding |
OMIM:121270 |
Chops Syndrome |
|
Patent ductus arteriosus, Vesicoureteral reflux, Curly hair, Short stature, Coarse hair, Synophry... |
OMIM:616368 |
Burkitt Lymphoma |
|
Abnormal lymph node morphology, Abnormality of the pancreas, Abnormality of the liver, Abnormalit... |
ORPHA:543 |
Immunodeficiency 54 |
|
Reduced natural killer cell count, Adrenocorticotropic hormone excess, Short stature, Adrenal ins... |
OMIM:609981 |
Immunodeficiency 75 With Lymphoproliferation |
|
Lymphadenopathy, Follicular hyperplasia, Decreased proportion of class-switched memory B cells, H... |
OMIM:619126 |
Immunodeficiency 92 |
|
B lymphocytopenia, Lymphocytosis, Sclerosing cholangitis, Cholangitis, Decreased proportion of cl... |
OMIM:619652 |
Thymic Aplasia |
|
Hypothyroidism, T lymphocytopenia, Decreased lymphocyte proliferation in response to mitogen, Rec... |
ORPHA:83471 |
Syndromic Recessive X-Linked Ichthyosis |
|
Hypohidrosis, Ichthyosis, Hypogonadism, Short stature, Testicular seminoma, Unilateral renal agen... |
ORPHA:281090 |
Cardiofaciocutaneous Syndrome 1 |
|
Hyperhidrosis, Curly hair, Ichthyosis, Short stature, Absent eyelashes, Oculomotor apraxia, Failu... |
OMIM:115150 |
Immunodeficiency 23 |
|
Cortical myoclonus, Hemolytic anemia, Increased circulating IgG level, Myoclonus, Membranoprolife... |
OMIM:615816 |
Noonan Syndrome 8 |
|
Patent ductus arteriosus, Curly hair, Short stature, Left ventricular hypertrophy, Large for gest... |
OMIM:615355 |
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta |
|
Decreased lymphocyte proliferation in response to mitogen, Increased circulating antibody level, ... |
ORPHA:169160 |
Microphthalmia, Syndromic 12 |
|
Microphthalmia, Anophthalmia |
OMIM:615524 |
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome |
|
B lymphocytopenia, Lymphadenopathy, Abnormal CD4:CD8 ratio, Neutropenia, Intermittent thrombocyto... |
OMIM:150550 |
Whim Syndrome 1 |
|
Abnormality of female external genitalia, Decreased circulating IgG level, Decreased circulating ... |
OMIM:193670 |
Schimke Immunoosseous Dysplasia |
|
Coarse hair, Thrombocytopenia, Disproportionate short-trunk short stature, Stage 5 chronic kidney... |
OMIM:242900 |
Congenital Disorder Of Glycosylation, Type Iil |
|
Patent ductus arteriosus, Proximal tubulopathy, Cirrhosis, Hypohidrosis, Intrauterine growth reta... |
OMIM:614576 |
Chilblain Lupus |
|
Increased circulating antibody level, Hyperkeratosis, Chronic myelomonocytic leukemia |
ORPHA:90280 |
Immunodeficiency 81 |
|
Reduced natural killer cell activity, Impaired neutrophil chemotaxis, Reduced antigen-specific T ... |
OMIM:619374 |
Schimke Immuno-Osseous Dysplasia |
|
Nephrotic range proteinuria, Impaired T cell function, Bone marrow hypocellularity, Thrombocytope... |
ORPHA:1830 |
Immunodeficiency 40 |
|
T lymphocytopenia, Reduced antigen-specific T cell proliferation, Eosinophilic granuloma, Growth ... |
OMIM:616433 |
Lymphoproliferative Syndrome, X-Linked, 1 |
|
Reduced natural killer cell activity, Decreased circulating antibody level, Fulminant hepatitis, ... |
OMIM:308240 |
Macrocephaly-Intellectual Disability-Neurodevelopmental Disorder-Small Thorax Syndrome |
|
Diastasis recti, Curly hair, Large for gestational age, Hypospadias, Decreased circulating IgA le... |
ORPHA:457485 |
Immunodeficiency 21 |
|
Reduced natural killer cell count, Anemia, Myeloid leukemia, Monocytopenia, B lymphocytopenia, Ce... |
OMIM:614172 |
Cardiofaciocutaneous Syndrome 4 |
|
Hyperhidrosis, Curly hair, Decreased response to growth hormone stimulation test, Short stature, ... |
OMIM:615280 |
Meckel Syndrome, Type 8 |
|
Encephalocele, Anophthalmia, Pericardial effusion, Microphthalmia, Occipital encephalocele |
OMIM:613885 |
Peroxisome Biogenesis Disorder 2A (Zellweger) |
|
Aminoaciduria, Hypoplasia of the thymus, Joint contracture of the hand, Polycystic kidney dysplas... |
OMIM:214110 |
Igg4-Related Aortitis |
|
Hypereosinophilia, Increased circulating IgG4 level, Weight loss, Increased circulating antibody ... |
ORPHA:449400 |
Netherton Syndrome |
|
Hypereosinophilia, Sparse eyebrow, Sparse scalp hair, Brittle hair, Brittle scalp hair, Congenita... |
OMIM:256500 |
Wiskott-Aldrich Syndrome |
|
Decreased circulating total IgM, Reduced natural killer cell activity, Absent microvilli on the s... |
OMIM:301000 |
Immunodeficiency 89 And Autoimmunity |
|
Reduced circulating interleukin 22 concentration, Reduced circulating interleukin 17A concentrati... |
OMIM:619632 |
Combined Immunodeficiency Due To Partial Rag1 Deficiency |
|
T lymphocytopenia, B lymphocytopenia, Neutropenia in presence of anti-neutropil antibodies, Autoi... |
ORPHA:231154 |
Wolfram Syndrome, Mitochondrial Form |
|
Diabetes insipidus, Megaloblastic anemia, Hydroureter, Sideroblastic anemia, Diabetes mellitus, T... |
OMIM:598500 |
X-Linked Lymphoproliferative Disease |
|
T lymphocytopenia, Hepatosplenomegaly, Increased T cell count, Bone marrow hypocellularity, Cervi... |
ORPHA:2442 |
Microphthalmia, Isolated 8 |
|
Microphthalmia, True anophthalmia, Anophthalmia, Optic nerve hypoplasia |
OMIM:615113 |
Immunodeficiency, Common Variable, 8, With Autoimmunity |
|
Chronic neutropenia, Hypothyroidism, Decreased circulating total IgM, B lymphocytopenia, Decrease... |
OMIM:614700 |
Mucopolysaccharidosis-Plus Syndrome |
|
Renal tubular atrophy, Thickened skin, Flexion contracture, Synophrys, Hirsutism, Bone marrow hyp... |
OMIM:617303 |
Insulin-Resistance Syndrome Type B |
|
Decreased circulating complement factor B concentration, Biliary cirrhosis, Decreased body weight... |
ORPHA:2298 |
Immunodeficiency 60 And Autoimmunity |
|
Decreased circulating total IgM, Pancytopenia, Decreased circulating IgE, Decreased circulating I... |
OMIM:618394 |
Agammaglobulinemia 9, Autosomal Recessive |
|
Failure to thrive, Thrombocytopenia, Agammaglobulinemia, Absent circulating B cells |
OMIM:619693 |
Autoinflammatory Disease, Systemic, X-Linked |
|
Decreased circulating total IgM, B lymphocytopenia, Decreased circulating antibody level, Hepatos... |
OMIM:301081 |
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency |
|
Decreased proportion of marginal zone B cells, Coombs-positive hemolytic anemia, Thyroiditis, Aut... |
OMIM:619375 |
Lymphoproliferative Syndrome 1 |
|
Leukopenia, Anemia, Decreased circulating antibody level, Pancytopenia, Autoimmune thrombocytopen... |
OMIM:613011 |
Rift Valley Fever |
|
Anemia, Hepatitis, Hemiparesis, Jaundice, Paraparesis, Hematuria, Paralysis, Increased circulatin... |
ORPHA:319251 |
Immunodeficiency With Hyper-Igm, Type 1 |
|
Sclerosing cholangitis, Hepatomegaly, Absence of lymph node germinal center, Thrombocytopenia, Im... |
OMIM:308230 |
Neutropenia, Severe Congenital, 2, Autosomal Dominant |
|
Monocytosis, Neutropenia, B lymphocytopenia |
OMIM:613107 |
Immunodeficiency 9 |
|
Failure to thrive, Myopathy, Hypoplasia of the thymus |
OMIM:612782 |
Congenital Disorder Of Glycosylation, Type Iir |
|
Decreased circulating antibody level, Jaundice, Decreased proportion of CD4-positive T cells, Hep... |
OMIM:301045 |
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome |
|
Patent ductus arteriosus, Hypothyroidism, Anemia, Hepatic fibrosis, Decreased circulating total I... |
OMIM:620005 |
Farber Disease |
|
Anemia, Hepatic fibrosis, Flexion contracture, Spasticity, Short stature, Paraparesis, Myoclonus,... |
ORPHA:333 |
Noonan Syndrome 2 |
|
Patent ductus arteriosus, Sparse eyebrow, Curly hair, Short stature, Arthrogryposis multiplex con... |
OMIM:605275 |
Naxos Disease |
|
Hyperhidrosis, Sparse scalp hair, Curly hair, Abnormality of hair texture, Woolly hair, Acanthosi... |
ORPHA:34217 |
Trichohepatoneurodevelopmental Syndrome |
|
Patent ductus arteriosus, Recurrent pancreatitis, Distal arthrogryposis, Hypothyroidism, Decrease... |
OMIM:618268 |
Immunodeficiency, Common Variable, 14 |
|
Decreased circulating total IgM, Decreased proportion of class-switched memory B cells, Decreased... |
OMIM:617765 |
Agammaglobulinemia, X-Linked |
|
Complete or near-complete absence of specific antibody response to Haemophilus influenzae type b ... |
OMIM:300755 |
Immunodeficiency 49 |
|
T lymphocytopenia, Spastic tetraplegia, Decreased proportion of naive CD4 T cells, Lymphopenia, A... |
OMIM:617237 |
Purine Nucleoside Phosphorylase Deficiency |
|
Abnormal T cell morphology, Spasticity, Cerebral palsy, Lymphopenia, Autoimmune thrombocytopenia,... |
ORPHA:760 |
Immunodeficiency 32B |
|
Abnormal circulating IgG level, Anemia, Monocytopenia, Neutrophilia, Failure to thrive, Eosinophi... |
OMIM:226990 |
Microcephalic Primordial Dwarfism, Toriello Type |
|
Decreased circulating total IgM, Severe short stature, Neutropenia, Intrauterine growth retardati... |
ORPHA:2643 |
Leishmaniasis |
|
Leukopenia, Anemia, Weight loss, Abnormal macrophage morphology, Increased circulating antibody l... |
ORPHA:507 |
Immunodeficiency, Common Variable, 2 |
|
Lymphadenopathy, Follicular hyperplasia, Impaired T cell function, Decreased circulating IgA leve... |
OMIM:240500 |
Immunodeficiency 86 |
|
Impaired oxidative burst, Increased circulating IgM level, Decreased circulating IgG level |
OMIM:619549 |
Spondyloepiphyseal Dysplasia-Brachydactyly-Speech Disorder Syndrome |
|
Curly hair, Multiple rows of eyelashes, Short stature, Rhizo-meso-acromelic limb shortening, Faci... |
ORPHA:163654 |
Immunodeficiency 96 |
|
Multicystic kidney dysplasia, Decreased circulating total IgM, Increased proportion of gamma-delt... |
OMIM:619774 |
Gaucher Disease, Type Iii |
|
Decreased body weight, Short stature, Myoclonus, Pancytopenia, Ataxia, Spastic paraparesis, Hepat... |
OMIM:231000 |
Dyskeratosis Congenita, Autosomal Dominant 3 |
|
Leukopenia, Alopecia, Short stature, Premature graying of hair, Urethral stricture, Pancytopenia,... |
OMIM:613990 |
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome |
|
Alopecia, Abnormal size of pituitary gland, Decreased response to growth hormone stimulation test... |
ORPHA:293978 |
Autosomal Recessive Spastic Paraplegia Type 43 |
|
Knee flexion contracture, Poor fine motor coordination, Spasticity, Spastic gait, Babinski sign, ... |
ORPHA:320370 |
Wolfram Syndrome 1 |
|
Hypothyroidism, Diabetes insipidus, Megaloblastic anemia, Neurogenic bladder, Hydroureter, Sidero... |
OMIM:222300 |
Vici Syndrome |
|
Leukopenia, Penile hypospadias, T lymphocytopenia, Decreased T cell activation, Albinism, Decreas... |
OMIM:242840 |
Oculocerebrocutaneous Syndrome |
|
Microphthalmia, Anophthalmia, Orbital encephalocele |
OMIM:164180 |
Noonan Syndrome 5 |
|
Sparse eyebrow, Curly hair, Small nail, Short stature, Large for gestational age, Fine hair, Cryp... |
OMIM:611553 |
Immunodeficiency, Common Variable, 7 |
|
Chronic (near) absent circulating IgG4, Recurrent urinary tract infections, Reduced isohemaggluti... |
OMIM:614699 |
Peeling Skin Syndrome 1 |
|
Short stature, Brittle hair, Palmoplantar hyperhidrosis, Onycholysis, Eosinophilia, Increased cir... |
OMIM:270300 |
Wiskott-Aldrich Syndrome |
|
Glomerulopathy, Anemia, Hypoplasia of the thymus, Hemolytic anemia, Abnormal platelet function, A... |
ORPHA:906 |
Cardiofaciocutaneous Syndrome 3 |
|
Hyperhidrosis, Curly hair, Short stature, Failure to thrive, Hyperkeratosis |
OMIM:615279 |
Schnitzler Syndrome |
|
Anemia, Lymphadenopathy, Leukocytosis, Increased circulating IgM level, Hepatomegaly, Splenomegaly |
ORPHA:37748 |
Eec Syndrome |
|
Vesicoureteral reflux, Urethral atresia, Hypohidrosis, Hypoplasia of the thymus, Decreased respon... |
ORPHA:1896 |
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation |
|
Decreased circulating total IgM, Decreased circulating antibody level, Lymphopenia, Autoimmune th... |
OMIM:616100 |
Aplasia Cutis Congenita-Intestinal Lymphangiectasia Syndrome |
|
Abnormal hair quantity, Lymphopenia, Decreased circulating antibody level |
ORPHA:1116 |
Proteus Syndrome |
|
Hyperkeratosis, Splenomegaly, Lymphangioma |
OMIM:176920 |
Adrenoleukodystrophy |
|
Urinary incontinence, Alopecia, Urinary bladder sphincter dysfunction, Hypogonadism, Lower limb m... |
OMIM:300100 |
Combined Immunodeficiency With Faciooculoskeletal Anomalies |
|
Abnormal T cell subset distribution, Reduced natural killer cell count, Decreased circulating tot... |
ORPHA:221139 |
Neutropenia, Severe Congenital, 1, Autosomal Dominant |
|
Anemia, Increased circulating antibody level, Acute monocytic leukemia, Thrombocytosis, Eosinophi... |
OMIM:202700 |
Nijmegen Breakage Syndrome |
|
T lymphocytopenia, B lymphocytopenia, Short stature, Premature ovarian insufficiency, Rhabdomyosa... |
OMIM:251260 |
Ichthyosis, Congenital, Autosomal Recessive 11 |
|
Sparse body hair, Sparse eyebrow, Hypohidrosis, Curly hair, Pili torti, Brittle hair, Curly eyela... |
OMIM:602400 |
Monocyte Chemotactic Disorder |
|
Cutaneous anergy |
OMIM:252250 |
Dyskeratosis Congenita, Autosomal Recessive 8 |
|
Reduced natural killer cell count, Sparse scalp hair, B lymphocytopenia, Pancytopenia, Nail dystr... |
OMIM:620133 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 2 |
|
Gait ataxia, Gait apraxia, Dysdiadochokinesis, Resting tremor, Apraxia, Paraparesis, Limb ataxia,... |
OMIM:615157 |
Progeria-Short Stature-Pigmented Nevi Syndrome |
|
Alopecia, T lymphocytopenia, Multiple joint contractures, Decreased serum estradiol, Small for ge... |
ORPHA:2959 |
Ritscher-Schinzel Syndrome 4 |
|
Chorea, Curly hair, Short stature, Ataxia, Cryptorchidism, Athetosis, Micropenis |
OMIM:619435 |
Combined Immunodeficiency-Enteropathy Spectrum |
|
Peritoneal abscess, Hypoplasia of the thymus, Thickened skin, Hepatitis, Type I diabetes mellitus... |
ORPHA:436252 |
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked |
|
Leukopenia, Vesicoureteral reflux, Small nail, Short stature, Small for gestational age, Intraute... |
OMIM:301056 |
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction |
|
Patent ductus arteriosus, Decreased response to growth hormone stimulation test, T lymphocytopeni... |
OMIM:618223 |
Spastic Paraparesis-Deafness Syndrome |
|
Short stature, Hypogonadism, Hemiplegia/hemiparesis, Ataxia, Spastic paraparesis |
ORPHA:2815 |
Epidermodysplasia Verruciformis, Susceptibility To, 5 |
|
T lymphocytopenia, Lymphopenia |
OMIM:618309 |
Parana Hard Skin Syndrome |
|
Thickened skin, Short stature, Growth delay, Hyperkeratosis, Generalized hirsutism |
ORPHA:2812 |
Frontotemporal Dementia With Motor Neuron Disease |
|
Fasciculations, Generalized amyotrophy, Parkinsonism, Apraxia, Abnormality of extrapyramidal moto... |
ORPHA:275872 |
Proteasome-Associated Autoinflammatory Syndrome 3 |
|
Anemia, Flexion contracture, Increased circulating antibody level, Lymphopenia, Myositis, Failure... |
OMIM:617591 |
Insulin-Resistance Syndrome Type A |
|
Delayed puberty, Type II diabetes mellitus, Hyperkeratosis, Generalized hirsutism |
ORPHA:2297 |
Hyper-Ige Recurrent Infection Syndrome 4A, Autosomal Dominant |
|
Reduced natural killer cell count, Decreased circulating total IgM, Cutaneous abscess, Lymphopeni... |
OMIM:619752 |
Johanson-Blizzard Syndrome |
|
Alopecia, Anemia, Abnormality of the pancreas, Short stature, Abnormality of the female genitalia... |
ORPHA:2315 |
Charcot-Marie-Tooth Disease, X-Linked Dominant, 1 |
|
Distal lower limb amyotrophy, Achilles tendon contracture, Paraparesis, Hand tremor, Incoordinati... |
OMIM:302800 |
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome |
|
Pancreatic hypoplasia, Biliary hyperplasia, Decreased circulating total IgM, B lymphocytopenia, C... |
ORPHA:83617 |
Lymphatic Malformation 11 |
|
Pedal edema, Lymphedema |
OMIM:619401 |
Kimura Disease |
|
Lymphadenopathy, Follicular hyperplasia, Abnormal salivary gland morphology, Eosinophilia, Increa... |
ORPHA:482 |
Inflammatory Bowel Disease, Immunodeficiency, And Encephalopathy |
|
Spasticity, Perianal abscess, Decreased T cell activation, Defective T cell proliferation, Increa... |
OMIM:618213 |
Woolly Hair Nevus |
|
Precocious puberty, Patchy hypopigmentation of hair, Curly hair, Congenital posterior occipital a... |
ORPHA:79414 |
Khan-Khan-Katsanis Syndrome |
|
Vesicoureteral reflux, Anemia, Short stature, Patent ductus arteriosus after premature birth, Lym... |
OMIM:618460 |
Leopard Syndrome 3 |
|
Curly hair, Short stature, Epidermal hyperkeratosis, Growth delay, Low posterior hairline, Hyperk... |
OMIM:613707 |
Acrokeratoelastoidosis Of Costa |
|
Palmar hyperhidrosis, Hyperkeratotic papule, Orthokeratosis, Granulomatosis, Palmoplantar hyperke... |
ORPHA:38 |
Adult Idiopathic Neutropenia |
|
Monocytopenia, Lymphopenia, Abnormal neutrophil count, Increased circulating IgM level, Monocytos... |
ORPHA:2688 |
Erythrokeratodermia Variabilis Et Progressiva 5 |
|
Abnormal hair morphology, Hyperkeratosis, Palmoplantar hyperkeratosis, Onychogryposis |
OMIM:617756 |
Woolly Hair, Autosomal Recessive 3 |
|
Sparse scalp hair, Trichorrhexis nodosa, Curly hair, Fine hair, Sparse eyelashes, Sparse hair |
OMIM:616760 |
Anonychia With Flexural Pigmentation |
|
Alopecia of scalp, Follicular hyperkeratosis, Abnormal hair morphology, Hyperkeratosis, Anonychia |
ORPHA:69125 |
Primary Intestinal Lymphangiectasia |
|
Anemia, Reduced proportion of CD4+ effector memory T cells, Decreased circulating total IgM, Weig... |
ORPHA:90362 |
Poikiloderma With Neutropenia |
|
Leukopenia, Sparse eyebrow, Sparse lateral eyebrow, Short stature, Plantar hyperkeratosis, Nail d... |
OMIM:604173 |
Bone Marrow Failure Syndrome 3 |
|
Acute myeloid leukemia, Small nail, Aplasia/Hypoplasia of the eyebrow, Short stature, Pancytopeni... |
OMIM:617052 |
Spastic Paraparesis And Deafness |
|
Spastic paraparesis, Short stature, Tremor, Hypogonadism |
OMIM:312910 |
Macdermot-Winter Syndrome |
|
Camptodactyly of finger, Frontal upsweep of hair, Hypoplastic male external genitalia, Highly arc... |
OMIM:247990 |
Nephrotic Syndrome, Type 14 |
|
Hypothyroidism, Ichthyosis, Hypogonadism, Nephrotic syndrome, Stage 5 chronic kidney disease, Adr... |
OMIM:617575 |
Severe Combined Immunodeficiency Due To Dclre1C Deficiency |
|
Failure to thrive, Hashimoto thyroiditis, Decreased circulating IgA level, Decreased proportion o... |
ORPHA:275 |
Pulmonary Fibrosis And/Or Bone Marrow Failure, Telomere-Related, 6 |
|
Premature graying of hair, Decreased circulating antibody level, Abnormally low T cell receptor e... |
OMIM:619767 |
O'Sullivan-Mcleod Syndrome |
|
Fasciculations, Increased circulating antibody level, Tremor, Intrinsic hand muscle atrophy, Eosi... |
ORPHA:99965 |
Noonan Syndrome 9 |
|
Sparse eyebrow, Curly hair, Short stature, Hydroureter, Cryptorchidism |
OMIM:616559 |
Igg4-Related Submandibular Gland Disease |
|
Increased circulating IgG4 level, Renal insufficiency, Retroperitoneal fibrosis, Prostatitis, Inc... |
ORPHA:449432 |
Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia |
|
Panhypogammaglobulinemia, Decreased response to growth hormone stimulation test, Prostatitis, Sho... |
OMIM:307200 |
Candidiasis, Familial, 1 |
|
Cutaneous anergy, Abnormality of the endocrine system, Alopecia |
OMIM:114580 |
Agammaglobulinemia 1, Autosomal Recessive |
|
Panhypogammaglobulinemia, B lymphocytopenia, Decreased circulating antibody level, Failure to thr... |
OMIM:601495 |
Cystic Echinococcosis |
|
Peritoneal abscess, Abnormality of the pancreas, Abnormality of the testis size, Weight loss, Cho... |
ORPHA:400 |
Alpers-Huttenlocher Syndrome |
|
Spasticity, Progressive spasticity, Paraparesis, Choreoathetosis, Myoclonus, Ataxia, Spastic para... |
ORPHA:726 |
X-Linked Adrenoleukodystrophy |
|
Progressive spastic paraparesis, Urinary bladder sphincter dysfunction, Impotence, Neurogenic bla... |
ORPHA:43 |
Autosomal Dominant Cerebellar Ataxia |
|
Pseudobulbar paralysis, Choreoathetosis, Upper motor neuron dysfunction, Action tremor, Spasticit... |
ORPHA:99 |
Sialidosis Type 1 |
|
Aminoaciduria, Short stature, Urinary excretion of sialylated oligosaccharides, Myoclonus, Increa... |
ORPHA:812 |
Simple Cryoglobulinemia |
|
Monoclonal elevation of circulating IgA, Chronic lymphatic leukemia, Weight loss, Nephrotic syndr... |
ORPHA:91139 |
Dyskeratosis Congenita, Autosomal Recessive 5 |
|
Leukopenia, Decreased circulating antibody level, Nail dystrophy, Bone marrow hypocellularity, In... |
OMIM:615190 |
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy |
|
Spasticity, Hepatic steatosis, Failure to thrive, Duplicated collecting system, Intrauterine grow... |
OMIM:617093 |
Retinal Telangiectasia And Hypogammaglobulinemia |
|
Reduced delayed hypersensitivity, Decreased circulating IgG level |
OMIM:267900 |
Ichthyosis, Congenital, Autosomal Recessive 13 |
|
Hyperkeratosis, Ichthyosis, Palmoplantar hyperkeratosis, Hypergranulosis |
OMIM:617574 |
Erythrokeratodermia Variabilis |
|
Alopecia, Weight loss, Abnormal testis morphology, Short stature, Abnormality of the nail, Diabet... |
ORPHA:317 |
Igg4-Related Kidney Disease |
|
Nephrotic range proteinuria, Increased circulating IgG4 level, Prostatitis, Sclerosing cholangiti... |
ORPHA:449395 |
Acrokeratosis Verruciformis |
|
Hyperkeratosis, Acrokeratosis, Ridged nail, Punctate palmoplantar hyperkeratosis |
OMIM:101900 |
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome |
|
T lymphocytopenia, B lymphocytopenia, Short stature, Hepatitis, Neutropenia in presence of anti-n... |
ORPHA:391487 |
Palmoplantar Keratoderma, Nonepidermolytic, Focal 1 |
|
Congenital bullous ichthyosiform erythroderma, Palmoplantar keratoderma, Follicular hyperkeratosi... |
OMIM:613000 |
Immunodeficiency 22 |
|
Anemia, Decreased circulating total IgM, Decreased circulating IgE, Failure to thrive, Decreased ... |
OMIM:615758 |
Rothmund-Thomson Syndrome, Type 1 |
|
Hypothyroidism, Short stature, Premature ovarian insufficiency, Absent eyelashes, Thin nail, Male... |
OMIM:618625 |
Acrodermatitis Enteropathica, Zinc-Deficiency Type |
|
Hypogonadism, Short stature, Decreased testicular size, Ataxia, Failure to thrive, Alopecia of sc... |
OMIM:201100 |
Palmoplantar Keratoderma, Nagashima Type |
|
Orthokeratotic hyperkeratosis, Palmoplantar hyperhidrosis, Hypergranulosis, Palmoplantar hyperker... |
OMIM:615598 |
Stormorken Syndrome |
|
Asplenia, Anemia, Howell-Jolly bodies, Ichthyosis, Short stature, Hematuria, Thrombocytopenia, My... |
OMIM:185070 |
Tularemia |
|
Anemia, Brain abscess, Increased circulating antibody level, Cutaneous abscess, Abnormal nasophar... |
ORPHA:3392 |
Neonatal Lupus Erythematosus |
|
Anemia, Abnormality of the liver, Neutropenia, Hemolytic anemia, Pancytopenia, Parakeratosis, Cho... |
ORPHA:398124 |
Charcot-Marie-Tooth Disease, X-Linked Recessive, 3 |
|
Distal amyotrophy, Paraparesis, Upper limb muscle weakness, Foot dorsiflexor weakness |
OMIM:302802 |
Congenital Disorder Of Glycosylation, Type Iq |
|
Spasticity, Ichthyosis, Failure to thrive, Hyperkeratosis, Hypertrichosis, Microcytic anemia |
OMIM:612379 |
Digeorge Syndrome |
|
Hypothyroidism, Hypoplasia of the thymus, Renal dysplasia, Hepatic steatosis, Parathyroid hypopla... |
OMIM:188400 |
Angiostrongyliasis |
|
Hypereosinophilia, Increased circulating specific IgE antibody, Increased circulating IgA level, ... |
ORPHA:74 |
Cerebral Creatine Deficiency Syndrome 2 |
|
Rigidity, Paraparesis, Myoclonus, Ataxia, Tremor, Progressive extrapyramidal movement disorder, H... |
OMIM:612736 |
Brucellosis |
|
Glomerulonephritis, Hepatomegaly, Intrarenal abscess, Thrombocytopenia, Splenomegaly, Hyperhidros... |
ORPHA:1304 |
Axial Mesodermal Dysplasia Spectrum |
|
Abnormality of the liver, Short stature, Abnormal morphology of female internal genitalia, Renal ... |
ORPHA:1834 |
Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked |
|
Patent ductus arteriosus, Spastic diplegia, Thrombocytopenia, Increased mean platelet volume, Hyd... |
OMIM:300048 |
Intellectual Developmental Disorder, Autosomal Dominant 56 |
|
Spasticity, Clumsiness, Paraparesis, Myoclonus, Hypomimic face, Ataxia, Lower limb spasticity, Or... |
OMIM:617854 |
Lethal Congenital Contracture Syndrome 10 |
|
Increased variability in muscle fiber diameter, Hypoplasia of the thymus, Torticollis, Macrogloss... |
OMIM:617022 |
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked |
|
Hypothyroidism, Anemia, Alopecia, Hepatitis, Coombs-positive hemolytic anemia, Type I diabetes me... |
OMIM:304790 |
Lead Poisoning |
|
Tubulointerstitial nephritis, Poor fine motor coordination, Abnormal T cell morphology, Anemia, A... |
ORPHA:330015 |
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 1 |
|
Extrapyramidal dyskinesia, Parkinsonism, Apraxia, Paraparesis, Tetraparesis, Skeletal muscle atrophy |
OMIM:105550 |
Manitoba Oculotrichoanal Syndrome |
|
Microphthalmia, Anophthalmia |
OMIM:248450 |
Noonan Syndrome 7 |
|
Hyperhidrosis, Curly hair, Short stature, Large for gestational age, Growth delay, Low posterior ... |
OMIM:613706 |
Say-Barber-Miller Syndrome |
|
Knee flexion contracture, Sparse eyebrow, Abnormal T cell morphology, Ankle clonus, Decreased cir... |
ORPHA:3132 |
Acitretin/Etretinate Embryopathy |
|
Hypoplasia of the thymus |
ORPHA:40366 |
Autosomal Recessive Generalized Epidermolysis Bullosa Simplex |
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Dystrophic toenail, Absent toenail, Palmoplantar hyperkeratosis, Abnormal fingernail morphology, ... |
ORPHA:89838 |
Pili Torti-Developmental Delay-Neurological Abnormalities Syndrome |
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Aplasia/Hypoplasia of the eyebrow, Pili torti, Ataxia, Growth delay, Abnormality of hair texture,... |
ORPHA:2891 |
Spondyloenchondrodysplasia With Immune Dysregulation |
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Hypothyroidism, Spasticity, T lymphocytopenia, Spastic diplegia, Short stature, Lymphopenia, Auto... |
OMIM:607944 |
Bloom Syndrome |
|
Acute myeloid leukemia, Acute lymphoblastic leukemia, Decreased proportion of CD4-positive T cell... |
ORPHA:125 |
Aregenerative Anemia |
|
Reticulocytopenia, Abnormal proportion of CD8-positive T cells, Erythroid hypoplasia, Pancytopeni... |
ORPHA:101096 |
X-Linked Charcot-Marie-Tooth Disease Type 5 |
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Paraparesis, Tremor, Skeletal muscle hypertrophy, Ataxia |
ORPHA:99014 |
Autoinflammation, Panniculitis, And Dermatosis Syndrome |
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Neutrophilia, Lymphadenopathy, Increased circulating IgA level, Leukocytosis, Increased circulati... |
OMIM:617099 |
Acquired Hypertrichosis Lanuginosa |
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Thickened skin, Ichthyosis, Abnormal eyebrow morphology, Weight loss, Macroglossia, Fine hair, Hy... |
ORPHA:2221 |
Tick-Borne Encephalitis |
|
Leukopenia, Abnormality of serum cytokine level, Paralysis, Tongue fasciculations, Incoordination... |
ORPHA:297 |
Williams-Beuren Region Duplication Syndrome |
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Patent ductus arteriosus, Horizontal eyebrow, Decreased response to growth hormone stimulation te... |
OMIM:609757 |
Recombinant Chromosome 8 Syndrome |
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Patent ductus arteriosus, Joint contracture of the hand, Camptodactyly, Growth delay, Hypertonia,... |
OMIM:179613 |
Autoimmune Hepatitis |
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Cirrhosis, Fulminant hepatitis, Increased circulating antibody level, Sclerosing cholangitis, Dif... |
ORPHA:2137 |
Lymphatic Filariasis |
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Hypereosinophilia, Vaginal hydrocele, Lymphadenitis, Lymphangiectasis, Abnormality of the scrotum... |
ORPHA:2035 |
Hyper-Ige Recurrent Infection Syndrome 4B, Autosomal Recessive |
|
Joint contracture of the hand, Increased circulating IgE level, Macroglossia, Eosinophilia |
OMIM:618523 |
Hydrolethalus |
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Polyhydramnios, Anophthalmia, Arrhinencephaly, Anencephaly, Microphthalmia |
ORPHA:2189 |
Multiple Myeloma |
|
Anemia, Weight loss, Decreased circulating antibody level, Acute kidney injury, Nephrotic syndrom... |
ORPHA:29073 |
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency |
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Anemia, Abnormality of the pancreas, Fine hair, Lymphopenia, White hair, Agammaglobulinemia |
ORPHA:935 |
Bazex Syndrome |
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Anemia, Yellow nails, Parakeratosis, Hyperkeratosis, Acanthosis nigricans, Palmoplantar keratoder... |
ORPHA:166113 |
Netherton Syndrome |
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Aminoaciduria, Sparse eyebrow, Sparse scalp hair, Ichthyosis, Trichorrhexis nodosa, Short stature... |
ORPHA:634 |
Cardiofaciocutaneous Syndrome 2 |
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Curly hair, Absent eyebrow, Sparse hair, Fine hair |
OMIM:615278 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Bain Type |
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Curly hair, Short stature, Ataxia, Failure to thrive, Hypertonia |
OMIM:300986 |
Granulomatous Disease, Chronic, Autosomal Recessive, 5 |
|
Lymphadenitis, Perianal abscess, Hemolytic anemia, Nephrotic syndrome, Granuloma, Short stature, ... |
OMIM:618935 |
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome |
|
Rhizomelic arm shortening, Leukopenia, Anemia, Reticulocytopenia, B lymphocytopenia, Short statur... |
ORPHA:508542 |
Hidrotic Ectodermal Dysplasia |
|
Thickened skin, Brittle scalp hair, Slow-growing nails, Palmoplantar hyperkeratosis, Absent pubic... |
ORPHA:189 |
Donohue Syndrome |
|
Hepatic fibrosis, Precocious puberty, Hyperinsulinemia, Clitoral hypertrophy, Long penis, Acantho... |
OMIM:246200 |
Trisomy 13 |
|
Hydrops fetalis, Anophthalmia, Aplasia/Hypoplasia of the iris, Microphthalmia, Intrauterine growt... |
ORPHA:3378 |
Uncombable Hair Syndrome 3 |
|
Pili canaliculi, Curly hair, Uncombable hair, Brittle hair |
OMIM:617252 |
Proteasome-Associated Autoinflammatory Syndrome 1 |
|
Camptodactyly of finger, Flexion contracture, Premature graying of hair, Elbow flexion contractur... |
OMIM:256040 |
Thrombocytopenia With Elevated Serum Iga And Renal Disease |
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Glomerulonephritis, Thrombocytopenia, Hematuria, Increased circulating IgA level |
OMIM:314000 |
Paraparetic Variant Of Guillain-Barré Syndrome |
|
Paraparesis, Urinary bladder sphincter dysfunction |
ORPHA:231445 |
Noduli Cutanei, Multiple, With Urinary Tract Abnormalities |
|
Duplicated collecting system, Hydronephrosis |
OMIM:163850 |
Bare Lymphocyte Syndrome, Type Ii |
|
Panhypogammaglobulinemia, Recurrent urinary tract infections, Biliary tract abnormality, Cholangi... |
OMIM:209920 |
Immunodeficiency 11B With Atopic Dermatitis |
|
Increased circulating IgE level, Decreased circulating total IgM, Eosinophilia |
OMIM:617638 |
Hereditary Orotic Aciduria |
|
Patent ductus arteriosus, Aminoaciduria, Anemia, Oroticaciduria, Abnormality of the ureter, Impai... |
ORPHA:30 |
Noonan Syndrome-Like Disorder With Loose Anagen Hair 1 |
|
Sparse scalp hair, Ichthyosis, Loose anagen hair, Short stature, Curly hair, Long eyelashes, Larg... |
OMIM:607721 |
Immunodeficiency, X-Linked, With Deficiency Of 115,000 Dalton Surface Glycoprotein |
|
Abnormality of T cell physiology |
OMIM:308220 |
Image Syndrome |
|
Hydronephrosis, Hypogonadism, Hypospadias, Cryptorchidism, Intrauterine growth retardation, Adren... |
ORPHA:85173 |
Cowden Syndrome 1 |
|
Hypothyroidism, Hyperthyroidism, Decreased circulating antibody level, Thyroiditis, Acrokeratosis... |
OMIM:158350 |
Early-Onset Epileptic Encephalopathy-Cortical Blindness-Intellectual Disability-Facial Dysmorphism Syndrome |
|
Anophthalmia |
ORPHA:411986 |
Congenital Myopathy 19 |
|
Congenital contracture, Renal atrophy, Facial hypotonia, Skeletal muscle atrophy, Cryptorchidism,... |
OMIM:618578 |
Tempi Syndrome |
|
Increased hematocrit, Abnormality of the kidney, Increased circulating IgG level, Polycythemia |
ORPHA:284227 |
Cartilage-Hair Hypoplasia |
|
Sparse eyebrow, Anemia, Absent pubertal growth spurt, Fair hair, Sparse facial hair, Lymphopenia,... |
OMIM:250250 |
Congenital Disorder Of Glycosylation, Type Iig |
|
Hemolytic-uremic syndrome, Anemia, Renal insufficiency, Rhizomelia, Short stature, Giant platelet... |
OMIM:611209 |
Bardet-Biedl Syndrome 19 |
|
Patent ductus arteriosus, Hypogonadism, External genital hypoplasia, Hepatic steatosis, Renal hyp... |
OMIM:615996 |
2p15-16.1 microdeletion syndrome |
|
Camptodactyly of finger, Hydronephrosis |
DECIPHER:70 |
Giant Axonal Neuropathy 1, Autosomal Recessive |
|
Abnormal pyramidal sign, Curly hair, Spastic paraplegia, Distal amyotrophy, Facial palsy |
OMIM:256850 |
Witkop Syndrome |
|
Small nail, Fine hair, Nail pits, Ridged nail, Concave nail, Sparse hair |
OMIM:189500 |
X-Linked Intellectual Disability, Schimke Type |
|
Knee flexion contracture, Vesicoureteral reflux, Spasticity, Hip contracture, Short stature, Elbo... |
ORPHA:85285 |
Microphthalmia, Syndromic 9 |
|
Patent ductus arteriosus, Diaphragmatic eventration, Short stature, Bicornuate uterus, Renal malr... |
OMIM:601186 |
Kufor-Rakeb Syndrome |
|
Spasticity, Parkinsonism, Rigidity, Torticollis, Paraparesis, Parkinsonism with favorable respons... |
OMIM:606693 |
Palmoplantar Keratoderma, Norrbotten Recessive Type |
|
Palmoplantar keratoderma, Hyperkeratosis |
OMIM:244850 |
Monosomy 22 |
|
Hyperhidrosis, Thickened skin, Contractures of the large joints, Synophrys, Hepatosplenomegaly, H... |
ORPHA:96123 |
Incontinentia Pigmenti |
|
Atrophic, patchy alopecia, Alopecia, Spasticity, Short stature, Coarse hair, Breast aplasia, Supe... |
OMIM:308300 |
Cutis Laxa, Autosomal Recessive, Type Ic |
|
Hypoplasia of the thymus, Morgagni diaphragmatic hernia, Multiple bladder diverticula, Accessory ... |
OMIM:613177 |
Autosomal Recessive Spastic Paraplegia Type 25 |
|
Paraparesis, Spastic paraplegia |
ORPHA:101005 |
Primary Angiitis Of The Central Nervous System |
|
Parkinsonism, Hemiparesis, Paraparesis, Paralysis, Ataxia, Tetraparesis |
ORPHA:140989 |
Gaucher Disease Type 1 |
|
Leukopenia, Anemia, Cirrhosis, Increased circulating antibody level, Hypersplenism, Hematuria, Pa... |
ORPHA:77259 |
Alveolar Echinococcosis |
|
Biliary cirrhosis, Eosinophilia, Weight loss, Abnormality of adrenal morphology, Increased circul... |
ORPHA:284 |
Alg12-Cdg |
|
Abnormal circulating IgG level, Patent ductus arteriosus, Small nail, Complete or near-complete a... |
ORPHA:79324 |
Immunodeficiency With Hyper-Igm, Type 2 |
|
Complete or near-complete absence of specific antibody response to tetanus vaccine, Impaired Ig c... |
OMIM:605258 |
Transcobalamin Ii Deficiency |
|
Decreased circulating total IgM, Reticulocytopenia, Pancytopenia, Erythroid hypoplasia, Ataxia, F... |
OMIM:275350 |
Oculodentodigital Dysplasia |
|
Camptodactyly of finger, Spasticity, Curly hair, Neurogenic bladder, Brittle hair, Ataxia, Abnorm... |
ORPHA:2710 |
Porokeratosis Of Mibelli |
|
Porokeratosis, Hyperkeratosis |
ORPHA:735 |
Trichothiodystrophy 5, Nonphotosensitive |
|
Gait ataxia, Sparse eyebrow, Tiger tail banding, Short stature, Brittle hair, Decreased testicula... |
OMIM:300953 |
3-Methylglutaconic Aciduria, Type V |
|
3-Methylglutaconic aciduria, Normochromic microcytic anemia, Microvesicular hepatic steatosis, Di... |
OMIM:610198 |
Ichthyosis, Lamellar, Autosomal Dominant |
|
Hyperkeratosis, Congenital nonbullous ichthyosiform erythroderma |
OMIM:146750 |
Lysinuric Protein Intolerance |
|
Leukopenia, Anemia, Aminoaciduria, Short stature, Stage 5 chronic kidney disease, Pancreatitis, F... |
OMIM:222700 |
Dowling-Degos Disease 2 |
|
Hyperkeratotic papule, Follicular hyperkeratosis |
OMIM:615327 |
Hypotrichosis Simplex Of The Scalp |
|
Abnormality of the axillary hair, Abnormal eyebrow morphology, Sparse scalp hair, Abnormality of ... |
ORPHA:90368 |
Autoinflammation, Antibody Deficiency, And Immune Dysregulation |
|
Decreased circulating IgA level, Decreased proportion of class-switched memory B cells, Decreased... |
OMIM:614878 |
Osteopetrosis With Renal Tubular Acidosis |
|
Leukopenia, Anemia, Renal tubular acidosis, Short stature, Elliptocytosis, Enlarged tonsils, Panc... |
ORPHA:2785 |
Dermatoleukodystrophy |
|
Hyperkeratosis, Thickened skin |
ORPHA:1659 |
Ichthyosis Hystrix, Lambert Type |
|
Orthokeratotic hyperkeratosis, Hyperkeratosis |
OMIM:146600 |
Hereditary Palmoplantar Keratoderma, Gamborg-Nielsen Type |
|
Diffuse palmoplantar hyperkeratosis, Hyperkeratosis with erythema |
ORPHA:86923 |
Palmoplantar Keratoderma, Punctate Type Iii |
|
Hyperkeratosis, Acrokeratosis |
OMIM:101850 |
Anophthalmia Plus Syndrome |
|
Spina bifida, Anophthalmia |
ORPHA:1104 |
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome |
|
Abnormal fallopian tube morphology, Pulmonary lymphangiectasia, Hepatosplenomegaly, Abnormality o... |
ORPHA:1655 |
Immunodeficiency With Hyper-Igm, Type 5 |
|
Epididymitis, Impaired Ig class switch recombination, Lymphadenopathy, Decreased circulating IgA ... |
OMIM:608106 |
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome |
|
Patent ductus arteriosus, Vesicoureteral reflux, Hypothyroidism, Curly hair, Decreased response t... |
ORPHA:444077 |
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies |
|
Flexion contracture, Ichthyosis, Medial flaring of the eyebrow, Synophrys, Elbow flexion contract... |
OMIM:619503 |
Ring Chromosome 8 Syndrome |
|
Low posterior hairline, Abnormality of the ureter, Hydronephrosis |
ORPHA:1450 |
Noonan Syndrome-Like Disorder With Loose Anagen Hair 2 |
|
Patent ductus arteriosus, High anterior hairline, Curly hair, Sparse lateral eyebrow, Short statu... |
OMIM:617506 |
Palmoplantar Keratoderma-Deafness Syndrome |
|
Palmoplantar keratoderma, Hyperkeratosis |
ORPHA:2202 |
Lissencephaly Syndrome, Norman-Roberts Type |
|
Hypoplastic spleen, Intrauterine growth retardation |
ORPHA:89844 |
Prolidase Deficiency |
|
Anemia, Prolonged neonatal jaundice, Increased circulating antibody level, Failure to thrive, Hyp... |
OMIM:170100 |
Treacher-Collins Syndrome |
|
Patent ductus arteriosus, Blepharospasm, Hypoplasia of the thymus, Absent eyelashes, Hypoplasia o... |
ORPHA:861 |
Pearson Syndrome |
|
Hypothyroidism, Adrenal insufficiency, Reticulocytosis, Lacticaciduria, Hepatic steatosis, Bone m... |
ORPHA:699 |
22Q11.2 Deletion Syndrome |
|
Hypothyroidism, Hypoplasia of the thymus, Impaired T cell function, Hypoparathyroidism, Abnormali... |
ORPHA:567 |
Leopard Syndrome 2 |
|
Curly hair, Short stature |
OMIM:611554 |
Moynahan Syndrome |
|
Alopecia, Short stature, Hypogonadism, Cachexia, Hyperkeratosis, Sparse hair |
ORPHA:2574 |
Congenital Heart Defects, Dysmorphic Facial Features, And Intellectual Developmental Disorder |
|
Curly hair, Short stature, Camptodactyly, Low posterior hairline, Thick eyebrow, Highly arched ey... |
OMIM:617360 |
Gaucher Disease, Perinatal Lethal |
|
Anemia, Decreased body weight, Ichthyosis, Opisthotonus, Arthrogryposis multiplex congenita, Hepa... |
OMIM:608013 |
Immunodeficiency 82 With Systemic Inflammation |
|
Reduced natural killer cell count, Anemia, T lymphocytopenia, B lymphocytopenia, Weight loss, Dec... |
OMIM:619381 |
Microcephaly, Short Stature, And Impaired Glucose Metabolism 2 |
|
Gait ataxia, Hypothyroidism, Spasticity, Short stature, Small for gestational age, Truncal ataxia... |
OMIM:616817 |
Isolated Anencephaly |
|
Maternal diabetes, Congenital diaphragmatic hernia, Thymus hyperplasia, Intrauterine growth retar... |
ORPHA:563609 |
Epidermolysis Bullosa Simplex 1C, Localized |
|
Hyperkeratosis |
OMIM:131800 |
Coccidioidomycosis |
|
Renal insufficiency, Abnormality of the liver, Granuloma, Abnormality of the male genitalia, Peri... |
ORPHA:228123 |
Noonan Syndrome 10 |
|
Patent ductus arteriosus, Sparse eyebrow, Curly hair, Short stature, Left ventricular hypertrophy... |
OMIM:616564 |
Ebola Hemorrhagic Fever |
|
Leukopenia, Increased circulating antibody level, Hepatitis, Lymphopenia, Acute pancreatitis, Thr... |
ORPHA:319218 |
Thiamine Metabolism Dysfunction Syndrome 2 (Biotin- Or Thiamine-Responsive Type) |
|
Gait ataxia, Chorea, Abnormal pyramidal sign, Rigidity, Paraparesis, Babinski sign, Truncal titub... |
OMIM:607483 |
Congenital Panfollicular Nevus |
|
Hyperkeratosis |
ORPHA:139414 |
Joubert Syndrome 37 |
|
Short stature, Decreased testicular size, Oculomotor apraxia, Hepatomegaly, Cryptorchidism, Obesi... |
OMIM:619185 |
Neurodevelopmental Disorder With Central Hypotonia And Dysmorphic Facies |
|
Patent ductus arteriosus, Hydronephrosis, Frontal upsweep of hair, Cryptorchidism |
OMIM:619797 |
Immunodeficiency 55 |
|
Ichthyosis, Short stature, Lymphopenia, Lymphadenopathy, Intrauterine growth retardation, Neutrop... |
OMIM:617827 |
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 3 |
|
Macroorchidism, Spasticity, Precocious puberty, Horizontal eyebrow, High anterior hairline, Cereb... |
OMIM:619950 |
Bone Marrow Failure Syndrome 6 |
|
Hypothyroidism, Anemia, Lymphopenia, Persistence of hemoglobin F, Bone marrow hypocellularity, In... |
OMIM:618849 |
Mevalonic Aciduria |
|
Failure to thrive in infancy, Anemia, Elevated urine mevalonic acid level, Short stature, Increas... |
OMIM:610377 |
Dysmyelination With Jaundice |
|
Cerebral palsy, Hydroureter, Jaundice, Hypoplasia of penis, Cryptorchidism, Hydronephrosis |
OMIM:224250 |
Hyperkeratosis-Hyperpigmentation Syndrome |
|
Hyperkeratosis |
ORPHA:1336 |
Igg4-Related Retroperitoneal Fibrosis |
|
Hydronephrosis, Impotence, Weight loss, Nephrotic syndrome, Acute kidney injury, Normocytic anemi... |
ORPHA:49041 |
Erythrokeratoderma ''En Cocardes'' |
|
Hyperkeratosis |
ORPHA:315 |
Cerebroretinal Microangiopathy With Calcifications And Cysts 1 |
|
Spasticity, Anemia, Abnormal pyramidal sign, Short stature, Premature graying of hair, Abnormalit... |
OMIM:612199 |
Epidermolysis Bullosa Simplex 4, Localized Or Generalized Intermediate, Autosomal Recessive |
|
Hyperkeratosis |
OMIM:615028 |
Hypotrichosis 4 |
|
Sparse body hair, Alopecia, Sparse eyebrow, Sparse scalp hair, Uncombable hair, Sparse eyelashes |
OMIM:146550 |
Mosaic Trisomy 9 |
|
Camptodactyly of finger, Asplenia, Abnormal liver lobulation, Abnormal fallopian tube morphology,... |
ORPHA:99776 |
Trichothiodystrophy |
|
Ichthyosis, Multiple joint contractures, Tiger tail banding, Hypertonia, Gait ataxia, Spasticity,... |
ORPHA:33364 |
Dubowitz Syndrome |
|
Anemia, Abnormality of female external genitalia, Sparse scalp hair, Low anterior hairline, Short... |
ORPHA:235 |
Acute Transverse Myelitis |
|
Urinary incontinence, Spasticity, Urinary bladder sphincter dysfunction, Urinary retention, Priap... |
ORPHA:139417 |
Naxos Disease |
|
Sparse body hair, Sparse eyebrow, Curly hair, Abnormal morphology of right ventricular trabeculae... |
OMIM:601214 |
Spinal Arachnoiditis |
|
Spastic paraparesis |
OMIM:182950 |
Hyperkeratosis Lenticularis Perstans |
|
Hyperkeratosis lenticularis perstans |
OMIM:144150 |
Angioma Serpiginosum, Autosomal Dominant |
|
Hyperkeratosis |
OMIM:106050 |
Reticulate Acropigmentation Of Kitamura |
|
Hyperkeratosis |
OMIM:615537 |
Papillomatosis, Confluent And Reticulated |
|
Hyperkeratosis |
OMIM:167900 |
Carpenter Syndrome 1 |
|
Patent ductus arteriosus, Precocious puberty, Joint contracture of the hand, Short stature, Exter... |
OMIM:201000 |
3-Phosphoglycerate Dehydrogenase Deficiency, Infantile/Juvenile Form |
|
Generalized ichthyosis, Spasticity, Megaloblastic anemia, Hypogonadism, Spastic tetraplegia, Shor... |
ORPHA:79351 |
Spinal Arteriovenous Metameric Syndrome |
|
Abnormality of the kidney, Paraparesis, Urinary bladder sphincter dysfunction, Lymphangioma |
ORPHA:53721 |
Congenital Disorder Of Glycosylation, Type Iie |
|
Short stature, Neurogenic bladder, Jaundice, Hypertrichosis, Failure to thrive, Skeletal muscle a... |
OMIM:608779 |
Zttk Syndrome |
|
Absent gallbladder, Patent ductus arteriosus, Spasticity, Flexion contracture, Curly hair, Sparse... |
OMIM:617140 |
Idiopathic Chronic Eosinophilic Pneumonia |
|
Hypereosinophilia, Weight loss, Increased circulating IgE level, Leukocytosis |
ORPHA:2902 |
Trisomy 1Q |
|
Polyhydramnios, Hydrops fetalis, Anophthalmia, Increased nuchal translucency |
ORPHA:261344 |
Takenouchi-Kosaki Syndrome |
|
Patent ductus arteriosus, Sparse eyebrow, Synophrys, Camptodactyly, Unilateral renal agenesis, At... |
OMIM:616737 |
Intellectual Developmental Disorder, Autosomal Dominant 34 |
|
Synophrys, Curly hair, Coarse hair |
OMIM:616351 |
Osteomyelitis, Sterile Multifocal, With Periostitis And Pustulosis |
|
Neutrophilia, Hepatomegaly, Hyperkeratosis, Failure to thrive in infancy, Splenomegaly, Abscess |
OMIM:612852 |
Orotic Aciduria |
|
Pyrimidine-responsive megaloblastic anemia, Hematuria, Poikilocytosis, Oroticaciduria, Anisocytos... |
OMIM:258900 |
Prominent Glabella-Microcephaly-Hypogenitalism Syndrome |
|
Camptodactyly of finger, Hypoplasia of penis, Growth delay, Hypertonia, Cryptorchidism, Abnormal ... |
ORPHA:2083 |
Lymphatic Malformation 8 |
|
Polyhydramnios, Pericardial effusion, Nonimmune hydrops fetalis, Pleural effusion, Generalized edema |
OMIM:618773 |
Pulmonary Edema Of Mountaineers, Susceptibility To |
|
Edema, Pulmonary edema |
OMIM:178400 |
Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Impaired Intellectual Development, And Ear Anomalies Syndrome |
|
Joint contracture of the hand, Acute lymphoblastic leukemia, Large for gestational age, Palmoplan... |
OMIM:280000 |
Weaver Syndrome |
|
Camptodactyly of finger, Spasticity, Hypoplastic toenails, Hypoplasia of penis, Deep-set nails, T... |
ORPHA:3447 |
Fanconi Anemia, Complementation Group J |
|
Bone marrow hypocellularity, Postnatal growth retardation, Intrauterine growth retardation |
OMIM:609054 |
Prolidase Deficiency |
|
Abnormal fingernail morphology, Palmoplantar keratoderma, White forelock, Hirsutism, Hepatomegaly... |
ORPHA:742 |
Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome |
|
Anemia, Flexion contracture, Ambiguous genitalia, Short stature, Recurrent urinary tract infectio... |
ORPHA:847 |
Epidermolytic Palmoplantar Keratoderma |
|
Hyperhidrosis, Camptodactyly, Palmoplantar hyperkeratosis, Epidermal hyperkeratosis, Abnormal fin... |
ORPHA:2199 |
Revesz Syndrome |
|
Ridged fingernail, Ataxia, Nail pits, Fine hair, Nail dystrophy, Bone marrow hypocellularity, Hyp... |
OMIM:268130 |
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome |
|
Hypothyroidism, Cachexia, Myositis, Splenomegaly, Alopecia, Thyroiditis, Neutropenia, Tubulointer... |
ORPHA:37042 |
Fanconi Anemia, Complementation Group O |
|
Short stature, Stage 5 chronic kidney disease, External genital hypoplasia, Renal cyst, Cryptorch... |
OMIM:613390 |
Trichothiodystrophy 1, Photosensitive |
|
Flexion contracture, Tiger tail banding, Small nail, Hypogonadism, Short stature, Small for gesta... |
OMIM:601675 |
Graham Little-Piccardi-Lassueur Syndrome |
|
Alopecia, Sparse scalp hair, Sparse axillary hair, Sparse pubic hair, Perifollicular hyperkeratosis |
ORPHA:505 |
Dyskeratosis Congenita, Digenic |
|
Alopecia, Anemia, Decreased circulating total IgM, Short stature, Decreased testicular size, Fail... |
OMIM:620040 |
Congenital Muscular Dystrophy-Respiratory Failure-Skin Abnormalities-Joint Hyperlaxity Syndrome |
|
Increased variability in muscle fiber diameter, Multiple joint contractures, Centrally nucleated ... |
ORPHA:486815 |
Ringed Hair Disease |
|
Abnormal hair pattern, Fine hair |
ORPHA:169 |
Nephrosis-Deafness-Urinary Tract-Digital Malformations Syndrome |
|
Abnormality of the urinary system, Hydronephrosis |
ORPHA:2669 |
Immunodeficiency 47 |
|
Leukopenia, Chronic decreased circulating total IgG, Hepatic fibrosis, Cirrhosis, Decreased circu... |
OMIM:300972 |
X-Linked Charcot-Marie-Tooth Disease Type 3 |
|
Distal lower limb amyotrophy, Distal upper limb amyotrophy, Spastic paraparesis, Tremor, Intrinsi... |
ORPHA:101077 |
Hyper-Ige Recurrent Infection Syndrome 3, Autosomal Recessive |
|
Alopecia, Sterile abscess, Cutaneous abscess, Decreased circulating IgA level, Eosinophilia, Incr... |
OMIM:618282 |
Growth Hormone Insensitivity Syndrome |
|
Diabetes insipidus, Hypogonadism, Short stature, Type II diabetes mellitus, Hypoplasia of penis, ... |
ORPHA:181393 |
Uncombable Hair Syndrome 2 |
|
Pili canaliculi, Uncombable hair |
OMIM:617251 |
Pseudopili Annulati |
|
Abnormality of hair texture, Abnormality of the scalp hair |
OMIM:613241 |
Congenital Muscular Dystrophy-Infantile Cataract-Hypogonadism Syndrome |
|
Decreased testicular size, Congenital muscular dystrophy, Abnormality of the ovary, Hypogonadism |
ORPHA:1875 |
Autosomal Recessive Complex Spastic Paraplegia Due To Kennedy Pathway Dysfunction |
|
Progressive spastic paraplegia, Progressive spastic paraparesis, Moderately short stature, Ankle ... |
ORPHA:506353 |
Ichthyosis Hystrix Of Curth-Macklin |
|
Flexion contracture, Ichthyosis, Diffuse palmoplantar hyperkeratosis, Hyperkeratosis, Nail dystrophy |
ORPHA:79503 |
Dystrophic Epidermolysis Bullosa Pruriginosa |
|
Hyperkeratosis, Increased circulating IgE level, Nail dystrophy, Abnormal toenail morphology |
ORPHA:89843 |
Psoriasis 14, Pustular |
|
Neutrophilia, Cholangitis, Parakeratosis, Leukocytosis, Nail dystrophy |
OMIM:614204 |
Pili Bifurcati |
|
Abnormal hair morphology, Abnormality of hair texture |
ORPHA:720 |
Incontinentia Pigmenti |
|
Camptodactyly of finger, Hyperhidrosis, Spasticity, Alopecia, Dystrophic toenail, Short stature, ... |
ORPHA:464 |
Poems Syndrome |
|
Hypothyroidism, Increased circulating prolactin concentration, Thickened skin, Leukonychia, Weigh... |
ORPHA:2905 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 11 |
|
Palmoplantar keratoderma, Woolly hair |
OMIM:610476 |
Hypodontia-Dysplasia Of Nails Syndrome |
|
Hypoplastic toenails, Fine hair, Abnormality of the nail, Abnormal fingernail morphology, Hypopla... |
ORPHA:2228 |
Suleiman-El-Hattab Syndrome |
|
Synophrys, Frontal hirsutism, Failure to thrive, Hirsutism, Cryptorchidism, Thick eyebrow, Highly... |
OMIM:618950 |
Gracile Bone Dysplasia |
|
Asplenia, Short stature, Failure to thrive, Hypoplastic spleen, Micropenis |
OMIM:602361 |
Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis |
|
Intrahepatic biliary atresia, Alopecia, Hepatic fibrosis, Sparse eyebrow, Ichthyosis, Orthokerato... |
OMIM:607626 |
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked |
|
Spasticity, Reduced alpha/beta synthesis ratio, Shawl scrotum, Renal agenesis, Macroglossia, Hypo... |
OMIM:301040 |
Palmoplantar Keratoderma And Congenital Alopecia 2 |
|
Sclerodactyly, Camptodactyly of finger, Palmoplantar hyperkeratosis, Alopecia totalis, Nail dyspl... |
OMIM:212360 |
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders |
|
Patent ductus arteriosus, Leukopenia, Anemia, Thickened skin, Flexion contracture, Thick hair, Ne... |
ORPHA:505248 |
Crimean-Congo Hemorrhagic Fever |
|
Hemoperitoneum, Adrenal insufficiency, Parotitis, Hepatomegaly, Thrombocytopenia, Splenomegaly, H... |
ORPHA:99827 |
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly |
|
Splenomegaly, Thyroid lymphangiectasia, Pulmonary lymphangiectasia, Hypertrichosis, Pancreatic ly... |
OMIM:235255 |
Matthew-Wood Syndrome |
|
Microphthalmia, Intrauterine growth retardation, Anophthalmia |
ORPHA:2470 |
Aquagenic Palmoplantar Keratoderma |
|
Orthokeratotic hyperkeratosis, Palmoplantar hyperhidrosis, Palmoplantar keratoderma |
ORPHA:498359 |
Cerebellar Ataxia-Ectodermal Dysplasia Syndrome |
|
Fine hair, Sparse hair, Ataxia, Cryptorchidism |
ORPHA:1174 |
Igg4-Related Ophthalmic Disease |
|
Abnormality of the anterior pituitary, Increased circulating IgG4 level, Sialadenitis, Retroperit... |
ORPHA:449563 |
Mogs-Cdg |
|
Hypothyroidism, Alopecia, Decreased circulating total IgM, Decreased circulating antibody level, ... |
ORPHA:79330 |
Tonne-Kalscheuer Syndrome |
|
Spasticity, Small nail, Short stature, Decreased testicular size, Fine hair, Congenital diaphragm... |
OMIM:300978 |
Growth Delay-Intellectual Disability-Hepatopathy Syndrome |
|
Hepatic fibrosis, Spasticity, Hepatosplenomegaly, Hepatic steatosis, Diabetes mellitus, Duplicate... |
ORPHA:541423 |
Lymphatic Malformation 7 |
|
Pulmonary edema, Lymphedema, Pericardial effusion, Nonimmune hydrops fetalis, Pleural effusion, E... |
OMIM:617300 |
X-Linked Intellectual Disability Due To Gria3 Mutations |
|
Abnormality of muscle size, Spasticity, Short stature, Myoclonus, Babinski sign, Facial hypotonia... |
ORPHA:364028 |
Tarp Syndrome |
|
Extramedullary hematopoiesis, Failure to thrive, Horseshoe kidney, Abnormal hair pattern, Cryptor... |
ORPHA:2886 |
Igg4-Related Dacryoadenitis And Sialadenitis |
|
Tubulointerstitial nephritis, Increased circulating IgG4 level, Retroperitoneal fibrosis, Weight ... |
ORPHA:79078 |
Crandall Syndrome |
|
Sparse body hair, Alopecia, Aplasia/Hypoplasia of the eyebrow, Pili torti, Hypogonadism, Abnormal... |
ORPHA:202 |
Intellectual Developmental Disorder With Or Without Epilepsy Or Cerebellar Ataxia |
|
Abnormal pyramidal sign, Eyelid myoclonus, Oculomotor apraxia, Incoordination, Ataxia, Tremor, Cr... |
OMIM:618060 |
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency |
|
Irregular menstruation, Anemia, Hepatic fibrosis, Cirrhosis, Renal tubular acidosis, Limb-girdle ... |
ORPHA:79240 |
8P23.1 Duplication Syndrome |
|
Adrenal insufficiency, Highly arched eyebrow, Hydronephrosis |
ORPHA:251076 |
Mgat2-Cdg |
|
Patent ductus arteriosus, Decreased lymphocyte proliferation in response to mitogen, Decreased ci... |
ORPHA:79329 |
Flynn-Aird Syndrome |
|
Alopecia of scalp, Alopecia, Hyperkeratosis, Ataxia |
OMIM:136300 |
Sin3A-Related Intellectual Disability Syndrome Due To A Point Mutation |
|
Fragile nails, Fine hair |
ORPHA:500166 |
Poliomyelitis |
|
Abnormal skeletal muscle morphology, Lower limb muscle weakness, Paraparesis, Paralysis, Hypoplas... |
ORPHA:2912 |
Primary Sjögren Syndrome |
|
Biliary cirrhosis, Chronic active hepatitis, Cryoglobulinemia, Myositis, Glomerulonephritis, Paro... |
ORPHA:289390 |
Werner Syndrome |
|
Decreased fertility, Sparse scalp hair, Pili torti, Abnormal testis morphology, Hypogonadism, Sec... |
ORPHA:902 |
Giant Axonal Neuropathy |
|
Spasticity, Abnormality of the Achilles tendon, Babinski sign, Woolly hair, Pili canaliculi, Abno... |
ORPHA:643 |
Acrokeratoderma, Hereditary Papulotranslucent |
|
Fine hair |
OMIM:101840 |
Wiedemann-Rautenstrauch Syndrome |
|
Flexion contracture, Hypoplasia of the thymus, Truncal ataxia, Broad eyebrow, Long penis, Hyperto... |
OMIM:264090 |
Hsd10 Disease |
|
Elevated urinary 3-hydroxybutyric acid, Rigidity, Myoclonus, Choreoathetosis, Ataxia, Spastic par... |
ORPHA:391417 |
Hyper-Igd Syndrome |
|
Lymphadenitis, Elevated urine mevalonic acid level, Renal angiomyolipoma, Neutrophilia, Increased... |
OMIM:260920 |
Cerebrooculonasal Syndrome |
|
Anophthalmia |
ORPHA:66625 |
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome |
|
Vesicoureteral reflux, Renal dysplasia, Polycystic kidney dysplasia, Abnormality of T cell physio... |
ORPHA:2237 |
Mucopolysaccharidosis, Type Iiib |
|
Synophrys, Hirsutism, Hepatomegaly, Coarse hair, Splenomegaly, Heparan sulfate excretion in urine |
OMIM:252920 |
Schinzel-Giedion Midface Retraction Syndrome |
|
Bicornuate uterus, Hydroureter, Hypoplastic labia minora, Hypoplastic labia majora, Macroglossia,... |
OMIM:269150 |
Celiac Disease, Susceptibility To, 1 |
|
Alopecia, Weight loss, Short stature, Infertility, Thyroiditis, Type I diabetes mellitus, Ataxia,... |
OMIM:212750 |
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome |
|
Absent gallbladder, Sparse eyebrow, Spasticity, Patent ductus arteriosus after birth at term, Cur... |
ORPHA:500150 |
Bloom Syndrome |
|
Decreased fertility in females, Decreased circulating total IgM, Small for gestational age, Type ... |
OMIM:210900 |
Cerebrotendinous Xanthomatosis |
|
Hypothyroidism, Spasticity, Tendon xanthomatosis, Abnormal pyramidal sign, Abnormality of the Ach... |
ORPHA:909 |
Hermansky-Pudlak Syndrome |
|
Thickened skin, Weight loss, Long eyelashes, Hypopigmentation of hair, Menometrorrhagia, Hyperker... |
ORPHA:79430 |
Oculotrichoanal Syndrome |
|
Microphthalmia, Anophthalmia |
ORPHA:2717 |
Koolen-De Vries Syndrome |
|
Vesicoureteral reflux, Hypothyroidism, Renal duplication, Ichthyosis, Short stature, Hypopigmenta... |
ORPHA:96169 |
Keratoderma Hereditarium Mutilans |
|
Alopecia, Ichthyosis, Honeycomb palmoplantar hyperkeratosis, Abnormality of the nail, Abnormal to... |
ORPHA:494 |
Erdheim-Chester Disease |
|
Hyperhidrosis, Anemia, Diabetes insipidus, Retroperitoneal fibrosis, Weight loss, Dysuria, Ataxia... |
ORPHA:35687 |
Renal Hypodysplasia/Aplasia 3 |
|
Vesicoureteral reflux, Multicystic kidney dysplasia, Renal dysplasia, Renal agenesis, Abnormality... |
OMIM:617805 |
Costello Syndrome |
|
Hypoplastic toenails, Thickened Achilles tendon, Short stature, Macroglossia, Deep-set nails, Woo... |
ORPHA:3071 |
Mucopolysaccharidosis, Type Iiia |
|
Synophrys, Hirsutism, Hepatomegaly, Coarse hair, Splenomegaly, Heparan sulfate excretion in urine |
OMIM:252900 |
Bilateral Perisylvian Polymicrogyria |
|
Distal arthrogryposis, Flexion contracture, Spasticity, Limb hypertonia, Abnormality of masticato... |
ORPHA:98889 |
Juvenile Idiopathic Arthritis |
|
Thickened skin, Abnormality of the nail, Nail pits, Abnormal fingernail morphology, Generalized h... |
ORPHA:92 |
Microphthalmia With Brain And Digit Anomalies |
|
Microphthalmia, Anophthalmia |
ORPHA:139471 |
Cockayne Syndrome Type 2 |
|
Intrauterine growth retardation, Anophthalmia |
ORPHA:90322 |
Angioma Serpiginosum, X-Linked |
|
Hyperkeratosis, Sparse hair, Nail dystrophy, Fine hair |
OMIM:300652 |
Solitary Median Maxillary Central Incisor |
|
Microphthalmia, Anophthalmia |
OMIM:147250 |
Recessive X-Linked Ichthyosis |
|
Hypohidrosis, Hyperkeratosis, Ichthyosis, Cryptorchidism |
ORPHA:461 |
Ritscher-Schinzel Syndrome 1 |
|
Hydronephrosis, Decreased response to growth hormone stimulation test, Hypospadias, Low posterior... |
OMIM:220210 |
Hardikar Syndrome |
|
Hypoplasia of the bladder, Portal inflammation, Hepatosplenomegaly, Hepatomegaly, Thrombocytopeni... |
OMIM:301068 |
Congenital Primary Megaureter |
|
Vesicoureteral reflux, Hydronephrosis, Congenital megaureter, Recurrent urinary tract infections,... |
ORPHA:617 |
Isolated Succinate-Coq Reductase Deficiency |
|
Knee flexion contracture, Vesicoureteral reflux, Spasticity, Skeletal myopathy, Weight loss, Left... |
ORPHA:3208 |
Sjögren-Larsson Syndrome |
|
Spasticity, Abnormal pyramidal sign, Ichthyosis, Spastic diplegia, Short stature, Hyperkeratosis |
ORPHA:816 |
Cat-Eye Syndrome |
|
Short stature, Renal hypoplasia/aplasia, Abnormal localization of kidney, Intrauterine growth ret... |
ORPHA:195 |
Mirror Polydactyly-Vertebral Segmentation-Limbs Defects Syndrome |
|
Short stature, Aplasia of the thymus |
ORPHA:3004 |
Trisomy 17P |
|
Patent ductus arteriosus, High anterior hairline, Flexion contracture, Short stature, Broad eyebr... |
ORPHA:261290 |
Intellectual Disability-Balding-Patella Luxation-Acromicria Syndrome |
|
Flexion contracture of digit, Decreased muscle mass, Hypogonadism, Decreased testicular size, Ext... |
ORPHA:3041 |
Multiple Sulfatase Deficiency |
|
Ichthyosis, Short stature, Mucopolysacchariduria, Hepatomegaly, Coarse hair, Thick eyebrow, Splen... |
ORPHA:585 |
Mucoepithelial Dysplasia, Hereditary |
|
Alopecia, Chronic monilial nail infection, Hematuria, Nail dysplasia, Sparse hair, Eosinophilia, ... |
OMIM:158310 |
Chromosome 2P16.1-P15 Deletion Syndrome |
|
Spasticity, Hypogonadism, Joint contracture of the hand, Decreased testicular size, Short stature... |
OMIM:612513 |
Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis |
|
Urachal cyst, Impaired neutrophil chemotaxis, Neutrophilia, Abnormally low T cell receptor excisi... |
OMIM:608203 |
Microsporidiosis |
|
Brain abscess, Prostatitis, Cachexia, Biliary tract abnormality, Myositis, Decreased proportion o... |
ORPHA:2552 |
Hidrotic Ectodermal Dysplasia, Halal Type |
|
Irregular menstruation, Sparse body hair, Sparse scalp hair, Absent eyelashes, Supernumerary nipp... |
ORPHA:1809 |
Mucopolysaccharidosis, Type Iiic |
|
Synophrys, Hypertrichosis, Hirsutism, Hepatomegaly, Coarse hair, Splenomegaly, Heparan sulfate ex... |
OMIM:252930 |
Microphthalmia, Syndromic 5 |
|
Microphthalmia, Anophthalmia, Optic nerve hypoplasia |
OMIM:610125 |
Simpson-Golabi-Behmel Syndrome |
|
Camptodactyly of finger, Supernumerary nipple, Hepatoblastoma, Nail dysplasia, Hepatomegaly, Sple... |
ORPHA:373 |
Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome |
|
Cirrhosis, Granulomatous cholangitis, Granuloma, Sclerosing cholangitis, Interface hepatitis, Cho... |
ORPHA:562639 |
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome |
|
Microphthalmia, Anophthalmia |
ORPHA:77298 |
Short Stature, Optic Nerve Atrophy, And Pelger-Huet Anomaly |
|
Short stature, Fine hair, Hyposegmentation of neutrophil nuclei, Thick eyebrow, Postnatal growth ... |
OMIM:614800 |
Hypermanganesemia With Dystonia 1 |
|
Poor fine motor coordination, Cirrhosis, Parkinsonism, Rigidity, Abnormality of extrapyramidal mo... |
OMIM:613280 |
2P15P16.1 Microdeletion Syndrome |
|
Camptodactyly of finger, Sparse eyebrow, Multicystic kidney dysplasia, Hypogonadism, Decreased te... |
ORPHA:261349 |
Zellweger Syndrome |
|
Multicystic kidney dysplasia, Short stature, Jaundice, Primary adrenal insufficiency, Failure to ... |
ORPHA:912 |
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Intermediate Form |
|
Hyperkeratosis, Palmar hyperkeratosis, Nail dystrophy, Plantar hyperkeratosis |
ORPHA:79399 |
Pneumocystosis |
|
Increased circulating antibody level, Abnormal neutrophil count, Weight loss |
ORPHA:723 |
Diabetic Embryopathy |
|
Aplasia/Hypoplasia of the abdominal wall musculature, Abnormality of the pancreas, Abnormal morph... |
ORPHA:1926 |
Myopathy, Epilepsy, And Progressive Cerebral Atrophy |
|
Type 2 muscle fiber predominance, Type 1 muscle fiber atrophy, Type 2 muscle fiber atrophy, Thymu... |
OMIM:619036 |
Congenital Disorder Of Glycosylation, Type Ia |
|
Hypothyroidism, Proximal tubulopathy, Hepatic fibrosis, Flexion contracture, Nephrotic syndrome, ... |
OMIM:212065 |
Hawkinsinuria |
|
Hypothyroidism, 4-hydroxyphenylacetic aciduria, Fine hair, Failure to thrive, 4-Hydroxyphenylpyru... |
ORPHA:2118 |
Granulomatosis With Polyangiitis |
|
Diabetes insipidus, Glomerulopathy, Weight loss, Prostatitis, Granulomatosis, Hematuria, Hemipleg... |
ORPHA:900 |
Localized Dystrophic Epidermolysis Bullosa, Pretibial Form |
|
Anemia, Hyperkeratotic papule, Small nail, Abnormal fingernail morphology, Growth delay, Abnormal... |
ORPHA:79410 |
Acquired Ichthyosis |
|
Palmoplantar keratoderma, Renal insufficiency, Ichthyosis, Hyperkeratosis |
ORPHA:454 |
Macrothrombocytopenia-Lymphedema-Developmental Delay-Facial Dysmorphism-Camptodactyly Syndrome |
|
Patent ductus arteriosus, Sparse eyebrow, Flexion contracture, Synophrys, Camptodactyly, Unilater... |
ORPHA:487796 |
Cardiofaciocutaneous Syndrome |
|
Dystrophic fingernails, Aplasia/Hypoplasia of the eyebrow, Ichthyosis, Short stature, Brittle hai... |
ORPHA:1340 |
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis |
|
Microvesicular hepatic steatosis, Tetraplegia, Hemolytic anemia, Hepatocellular necrosis, Ellipto... |
OMIM:618278 |
Distal Trisomy 6P |
|
Abnormality of the urinary system, Short stature, Fine hair, Abnormal hair quantity, Abnormal eye... |
ORPHA:1745 |
Iga Pemphigus |
|
Monoclonal elevation of circulating IgA, Cutaneous abscess, Increased circulating IgA level, Eosi... |
ORPHA:555905 |
Liver Disease, Severe Congenital |
|
Poor fine motor coordination, Aminoaciduria, Portal inflammation, Hyperinsulinemic hypoglycemia, ... |
OMIM:619991 |
Bone Fragility With Contractures, Arterial Rupture, And Deafness |
|
Diaphragmatic eventration, Elbow flexion contracture, Contracture of the proximal interphalangeal... |
OMIM:612394 |
Vacterl With Hydrocephalus |
|
Polyhydramnios, Anophthalmia, Spina bifida, Arrhinencephaly, Microphthalmia, Intrauterine growth ... |
ORPHA:3412 |
Autosomal Recessive Spastic Paraplegia Type 11 |
|
Lower limb muscle weakness, Parkinsonism, Progressive spasticity, Abnormality of extrapyramidal m... |
ORPHA:2822 |
Spastic Paraplegia 48, Autosomal Recessive |
|
Urinary incontinence, Spastic gait, Lower limb muscle weakness, Parkinsonism, Ataxia, Spastic par... |
OMIM:613647 |
Silver-Russell Syndrome Due To 7P11.2P13 Microduplication |
|
Hyperhidrosis, High anterior hairline, Short stature, Small for gestational age, Labial hypoplasi... |
ORPHA:231137 |
Ichthyosis, Congenital, Autosomal Recessive 2 |
|
Alopecia, Hypohidrosis, Small nail, External genital hypoplasia, Anhidrosis, Paralysis, Congenita... |
OMIM:242100 |
Severe Generalized Junctional Epidermolysis Bullosa |
|
Urethral stricture, Abnormality of the nail, Abnormality of the bladder, Alopecia, Multicystic ki... |
ORPHA:79404 |
Distal Tetrasomy 15Q |
|
Patent ductus arteriosus, Nephroblastoma, Flexion contracture, Abnormality of the kidney, Polycys... |
ORPHA:314588 |
Costello Syndrome |
|
Lymphangiectasis, Curly hair, Short stature, Achilles tendon contracture, Macroglossia, Deep-set ... |
OMIM:218040 |
Microphthalmia With Limb Anomalies |
|
Microphthalmia, Anophthalmia |
OMIM:206920 |
Micro Syndrome |
|
Spasticity, Short stature, Hypoplastic labia minora, Hypoplasia of penis, Clitoral hypoplasia, De... |
ORPHA:2510 |
Hemophagocytic Syndrome Associated With An Infection |
|
Abnormal natural killer cell count, Abnormal T cell subset distribution, Anemia, Abnormal cytokin... |
ORPHA:158048 |
Aicardi-Goutieres Syndrome 7 |
|
Hypothyroidism, Anemia, Tetraplegia, Hemolytic anemia, Weight loss, Nephrotic syndrome, Increased... |
OMIM:615846 |
Prune Belly Syndrome |
|
Patent ductus arteriosus, Congenital posterior urethral valve, Hydroureter, Aplasia of the abdomi... |
OMIM:100100 |
Igg4-Related Thyroid Disease |
|
Hypothyroidism, Increased circulating IgG4 level, Retroperitoneal fibrosis, Nodular goiter, Scler... |
ORPHA:64744 |
Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities |
|
Aminoaciduria, Spasticity, Calcinosis, Growth delay, Renal artery stenosis, Renal hypoplasia, Nep... |
OMIM:617913 |
Mast Syndrome |
|
Lower limb muscle weakness, Dysdiadochokinesis, Apraxia, Incoordination, Babinski sign, Spastic p... |
OMIM:248900 |
Al Amyloidosis |
|
Anemia, Howell-Jolly bodies, Abnormality of the liver, Weight loss, Nephrotic syndrome, Increased... |
ORPHA:85443 |
Oculodentodigital Dysplasia |
|
Dry hair, Spasticity, Neurogenic bladder, Paraparesis, Ataxia, Fine hair, Tetraparesis, Fragile n... |
OMIM:164200 |
Vacterl/Vater Association |
|
Ambiguous genitalia, Multicystic kidney dysplasia, Abnormality of the pancreas, Abnormal morpholo... |
ORPHA:887 |
Trisomy 20P |
|
Camptodactyly of finger, Macroorchidism, Thick hair, Coarse hair, Abnormality of the kidney, Inco... |
ORPHA:261318 |
Autosomal Dominant Spastic Paraplegia Type 73 |
|
Progressive spastic paraplegia, Urinary incontinence, Progressive spastic paraparesis, Distal low... |
ORPHA:444099 |
Lipoid Proteinosis Of Urbach And Wiethe |
|
Hyperkeratosis, Thickened skin, Patchy alopecia |
OMIM:247100 |
Primary Microcephaly-Mild Intellectual Disability-Young-Onset Diabetes Syndrome |
|
Hypothyroidism, Decreased body weight, Small for gestational age, Synophrys, Fine hair, Spastic p... |
ORPHA:391408 |
Mucopolysaccharidosis, Type Vii |
|
Flexion contracture, Short stature, Dermatan sulfate excretion in urine, Macroglossia, Thick eyeb... |
OMIM:253220 |
Zaki Syndrome |
|
Patent ductus arteriosus, Sparse eyebrow, Hypoplastic toenails, Sparse scalp hair, Sparse lateral... |
OMIM:619648 |
Pyoderma Gangrenosum |
|
Increased circulating antibody level, Myositis, Myeloid leukemia |
ORPHA:48104 |
Arachnoid Cyst |
|
Urinary incontinence, Urinary bladder sphincter dysfunction, Lower limb muscle weakness, Hemipare... |
ORPHA:2356 |
Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies |
|
Appendicular spasticity, Unilateral renal agenesis, Cryptorchidism, Renal hypoplasia, Hydronephrosis |
OMIM:618494 |
Immunodeficiency 67 |
|
Liver abscess, Increased circulating IgE level, Transient neutropenia |
OMIM:607676 |
Ichthyosis-Alopecia-Eclabion-Ectropion-Intellectual Disability Syndrome |
|
Generalized ichthyosis, Spasticity, Sparse eyebrow, Hypogonadism, Rigidity, Alopecia of scalp, Pa... |
ORPHA:2269 |
Ichthyosis, Congenital, Autosomal Recessive 5 |
|
Orthokeratosis, Congenital nonbullous ichthyosiform erythroderma, Parakeratosis, Palmoplantar ker... |
OMIM:604777 |
Adrenomyeloneuropathy |
|
Urinary incontinence, Female sexual dysfunction, Progressive spastic paraparesis, Adrenocorticotr... |
ORPHA:139399 |
Alpha-N-Acetylgalactosaminidase Deficiency Type 1 |
|
Spasticity, Abnormal pyramidal sign, Generalized amyotrophy, Abnormality of extrapyramidal motor ... |
ORPHA:79279 |
Craniofrontonasal Dysplasia |
|
Camptodactyly of finger, Shawl scrotum, Widow's peak, Ridged fingernail, Woolly hair, Congenital ... |
ORPHA:1520 |
Arnold-Chiari Malformation Type Ii |
|
Spasticity, Hand muscle atrophy, Neurogenic bladder, Paraparesis, Ataxia, Paraplegia, Opisthotonu... |
ORPHA:1136 |
Rubinstein-Taybi Syndrome 1 |
|
Flexion contracture, Premature thelarche, Broad eyebrow, Frontal hirsutism, Hirsutism, Thick eyeb... |
OMIM:180849 |
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome |
|
Absent gallbladder, Patent ductus arteriosus, Anemia, Aplasia/Hypoplasia of the nails, Short stat... |
ORPHA:163979 |
Leprechaunism |
|
Central hypothyroidism, Thickened skin, Decreased body weight, Labial hypertrophy, Long penis, He... |
ORPHA:508 |
Pallister-Hall Syndrome |
|
Precocious puberty, Renal dysplasia, Decreased circulating cortisol level, Nail dysplasia, Crypto... |
OMIM:146510 |
X-Linked Dominant Chondrodysplasia Punctata |
|
Sparse eyebrow, Flexion contracture, Ichthyosis, Short stature, Scarring alopecia of scalp, Abnor... |
ORPHA:35173 |
1P36 Deletion Syndrome |
|
Camptodactyly of finger, Hypothyroidism, Hemiplegia/hemiparesis, Hepatic steatosis, Horizontal ey... |
ORPHA:1606 |
Fryns Syndrome |
|
Small nail, Joint contracture of the hand, Shawl scrotum, Bicornuate uterus, Bifid scrotum, Polys... |
OMIM:229850 |
Congenital Bile Acid Synthesis Defect Type 2 |
|
Jaundice, Renal cyst, Failure to thrive, Hepatic steatosis, Giant cell hepatitis, Hepatomegaly, E... |
ORPHA:79303 |
Proteus-Like Syndrome |
|
Abnormality of the parathyroid gland, Polycystic ovaries, Thymus hyperplasia, Splenomegaly |
ORPHA:2969 |
Müllerian Aplasia And Hyperandrogenism |
|
High anterior hairline, Increased serum testosterone level, Short stature, Synophrys, Abnormality... |
ORPHA:247768 |
Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome |
|
Spasticity, Abnormal pyramidal sign, Spastic diplegia, Spastic gait, Truncal ataxia, Dysdiadochok... |
OMIM:238970 |
Tetragametic Chimerism |
|
Abnormality of the scrotum, Ambiguous genitalia, Abnormal testis morphology, Perineal hypospadias... |
ORPHA:199310 |
Chime Syndrome |
|
Ichthyosis, Abnormality of the kidney, Fine hair, Hyperkeratosis, Acute leukemia, Sparse hair, Hy... |
ORPHA:3474 |
Stromme Syndrome |
|
Myopathy, Accessory spleen, Stillbirth, Bilateral renal hypoplasia, Hydronephrosis |
OMIM:243605 |
Erythrokeratodermia Variabilis Et Progressiva 3 |
|
Palmoplantar keratoderma, Hyperkeratosis, Hypergranulosis |
OMIM:617525 |
8P Inverted Duplication/Deletion Syndrome |
|
Progressive spastic paraplegia, Contractures of the large joints, Precocious puberty, Spastic tet... |
ORPHA:96092 |
Erythrokeratodermia Variabilis Et Progressiva 4 |
|
Hyperkeratosis, Palmoplantar hyperkeratosis, Congenital nonbullous ichthyosiform erythroderma |
OMIM:617526 |
Cockayne Syndrome Type 3 |
|
Dry hair, Flexion contracture, Urinary retention, Neurogenic bladder, Premature graying of hair, ... |
ORPHA:90324 |
Gaisböck Syndrome |
|
Increased mean corpuscular hemoglobin concentration, Increased red blood cell count, Increased he... |
ORPHA:90041 |
3-Methylglutaconic Aciduria Type 3 |
|
Spastic paraparesis, 3-Methylglutaconic aciduria, Choreoathetosis, Ataxia |
ORPHA:67047 |
Microcephalic Osteodysplastic Primordial Dwarfism Type Ii |
|
Patent ductus arteriosus, Anemia, Precocious puberty, Abnormality of female external genitalia, A... |
ORPHA:2637 |
Walker-Warburg Syndrome |
|
Microphthalmia, Anophthalmia |
ORPHA:899 |
Early-Onset Progressive Encephalopathy-Spastic Ataxia-Distal Spinal Muscular Atrophy Syndrome |
|
Progressive spastic paraparesis, Spastic ataxia, Spinal muscular atrophy, Spastic tetraparesis, F... |
ORPHA:496756 |
Jacobsen Syndrome |
|
Multicystic kidney dysplasia, Aplasia/Hypoplasia of the eyebrow, Short stature, Bone marrow hypoc... |
ORPHA:2308 |
Hennekam Lymphangiectasia-Lymphedema Syndrome 1 |
|
Vesicoureteral reflux, Joint contracture of the hand, Thyroid lymphangiectasia, Pulmonary lymphan... |
OMIM:235510 |
Joubert Syndrome 35 |
|
Multicystic kidney dysplasia, Recurrent urinary tract infections, Oculomotor apraxia, Synophrys, ... |
OMIM:618161 |
Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects |
|
Alopecia, Flexion contracture, Small nail, Short stature, Orthokeratosis, Mild intrauterine growt... |
OMIM:308050 |
Lysinuric Protein Intolerance |
|
Hyperlysinuria, Ornithinuria, Hepatosplenomegaly, Glomerulonephritis, Hepatomegaly, Argininuria, ... |
ORPHA:470 |
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 3 |
|
Renal dysplasia, Fair hair, Sparse eyelashes, Vesicoureteral reflux, Sparse axillary hair, Absenc... |
OMIM:604292 |
Brain Malformation-Congenital Heart Disease-Postaxial Polydactyly Syndrome |
|
Abnormality of the anterior pituitary, Alopecia, Short stature, Brittle hair, Posterior pituitary... |
ORPHA:75389 |
Koolen-De Vries Syndrome |
|
Patent ductus arteriosus, Vesicoureteral reflux, Short stature, Recurrent urinary tract infection... |
OMIM:610443 |
Schinzel-Giedion Syndrome |
|
Central hypothyroidism, Nephroblastoma, Spasticity, Myeloid leukemia, Generalized hypertrichosis,... |
ORPHA:798 |
Acne Inversa, Familial, 2, With Or Without Dowling-Degos Disease |
|
Recurrent cutaneous abscess formation, Follicular hyperkeratosis |
OMIM:613736 |
6P22 Microdeletion Syndrome |
|
Patent ductus arteriosus, Hydronephrosis |
ORPHA:251046 |
Diamond-Blackfan Anemia 21 |
|
Anemia, Horizontal eyebrow, Short stature, Synophrys, Widow's peak, Erythroid hypoplasia, Coarse ... |
OMIM:620072 |
Noonan Syndrome-Like Disorder With Or Without Juvenile Myelomonocytic Leukemia |
|
Short stature, Fine hair, Hepatosplenomegaly, Failure to thrive, Juvenile myelomonocytic leukemia... |
OMIM:613563 |
Genitopatellar Syndrome |
|
Knee flexion contracture, Multicystic kidney dysplasia, Hip contracture, Sparse scalp hair, Short... |
ORPHA:85201 |
Ileal Neuroendocrine Tumor |
|
Extrahepatic cholestasis, Weight loss, Increased serum serotonin, Lymphadenopathy, Small intestin... |
ORPHA:100078 |
Jejunal Neuroendocrine Tumor |
|
Extrahepatic cholestasis, Weight loss, Increased serum serotonin, Lymphadenopathy, Small intestin... |
ORPHA:100077 |
Duodenal Neuroendocrine Tumor |
|
Extrahepatic cholestasis, Increased hematocrit, Increased circulating ACTH level, Insulinoma, Lym... |
ORPHA:100076 |
Japanese Encephalitis |
|
Opisthotonus, Respiratory paralysis, Increased circulating antibody level, Abnormality of extrapy... |
ORPHA:79139 |
Epidermolysis Bullosa Dystrophica, Pretibial |
|
Hyperkeratosis, Nail dystrophy |
OMIM:131850 |
Noonan Syndrome |
|
Aplasia/Hypoplasia of the abdominal wall musculature, Short stature, Coarse hair, Abnormal platel... |
ORPHA:648 |
Scheie Syndrome |
|
Cerebral palsy, Spastic paraparesis, Mucopolysacchariduria, Hepatomegaly, Splenomegaly |
ORPHA:93474 |
Sulfite Oxidase Deficiency, Isolated |
|
Choreoathetosis, Hemiplegia, Ataxia, Increased urinary sulfite, Fine hair, Decreased urinary sulf... |
OMIM:272300 |
Spinocerebellar Ataxia 40 |
|
Gait ataxia, Ankle clonus, Dysdiadochokinesis, Ataxia, Spastic paraparesis, Dysmetria, Tremor, In... |
OMIM:616053 |
Urofacial Syndrome 1 |
|
Recurrent urinary tract infections, Hydroureter, Cryptorchidism, Enuresis, Urethral valve, Urethr... |
OMIM:236730 |
Myelopathy, Htlv-1-Associated |
|
Spastic paraparesis, Abnormal pyramidal sign |
OMIM:159580 |
Chand Syndrome |
|
Nail dysplasia, Curly hair |
OMIM:214350 |
Aicardi-Goutières Syndrome |
|
Hypothyroidism, Spasticity, Abnormal pyramidal sign, Chronic lymphatic leukemia, Multiple joint c... |
ORPHA:51 |
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1 |
|
Renal dysplasia, Fair hair, Nail dysplasia, Sparse eyelashes, Sparse hair, Vesicoureteral reflux,... |
OMIM:129900 |
Peroxisome Biogenesis Disorder 8B |
|
Gait ataxia, Spasticity, Ankle clonus, Limb tremor, Rigidity, Ataxia, Babinski sign, Spastic para... |
OMIM:614877 |
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 1 |
|
Patent ductus arteriosus, Vesicoureteral reflux, Spasticity, Renal dysplasia, Bladder trabeculati... |
OMIM:614080 |
Spastic Paraplegia 75, Autosomal Recessive |
|
Spasticity, Abnormal pyramidal sign, Distal lower limb amyotrophy, Spastic gait, Spastic dysarthr... |
OMIM:616680 |
Sarcoidosis, Susceptibility To, 1 |
|
Weight loss, Increased circulating antibody level, Abnormality of T cell physiology, Generalized ... |
OMIM:181000 |
Ullrich Congenital Muscular Dystrophy 1 |
|
Increased variability in muscle fiber diameter, Hyperhidrosis, Flexion contracture, Generalized a... |
OMIM:254090 |
Ectodermal Dysplasia-Syndactyly Syndrome 2 |
|
Hyperhidrosis, Congenital bullous ichthyosiform erythroderma, Sparse hair, Palmoplantar keratoder... |
OMIM:613576 |
Hypotrichosis With Juvenile Macular Degeneration |
|
Sparse scalp hair, Pili torti, Short stature, Brittle hair, Fine hair, Hyperkeratosis |
ORPHA:1573 |
Secondary Intestinal Lymphangiectasia |
|
Cirrhosis, Decreased circulating total IgM, Decreased circulating antibody level, Secondary hyper... |
ORPHA:90363 |
Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2 |
|
Reduced natural killer cell count, Perianal abscess, Weight loss, Increased circulating interleuk... |
OMIM:301074 |
Kleefstra Syndrome |
|
Vesicoureteral reflux, Short stature, Synophrys, Hypoplasia of penis, Supernumerary nipple, Macro... |
ORPHA:261494 |
Gaucher Disease Type 3 |
|
Anemia, Increased circulating antibody level, Hematuria, Pancytopenia, Ataxia, Delayed puberty, G... |
ORPHA:77261 |
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome |
|
Poor fine motor coordination, Abnormality of the liver, Dysdiadochokinesis, Truncal ataxia, Rigid... |
ORPHA:309854 |
Congenital Alveolar Capillary Dysplasia |
|
Absent gallbladder, Asplenia, Patent ductus arteriosus, Annular pancreas, Hydronephrosis |
ORPHA:210122 |
Q Fever |
|
Anemia, Abnormality of the liver, Weight loss, Granuloma, Increased circulating antibody level, H... |
ORPHA:781 |
Hypohidrotic Ectodermal Dysplasia-Hypothyroidism-Ciliary Dyskinesia Syndrome |
|
Hypothyroidism, Hypohidrosis, Dystrophic toenail, Alopecia, Sparse scalp hair, Short stature, Spa... |
ORPHA:1882 |
Hurler Syndrome |
|
Camptodactyly of finger, Abnormal pyramidal sign, Cerebral palsy, Short stature, Macroglossia, Sp... |
ORPHA:93473 |
Ramon Syndrome |
|
Failure to thrive, Hyperkeratosis, Generalized hirsutism, Diabetes mellitus |
ORPHA:3019 |
Hypohidrotic Ectodermal Dysplasia |
|
Hypohidrosis, Aplasia/Hypoplasia of the eyebrow, Trichorrhexis nodosa, Generalized hypopigmentati... |
ORPHA:238468 |
Ichthyotic Keratoderma, Spasticity, Hypomyelination, And Dysmorphic Facial Features |
|
Spasticity, Ichthyosis, Neurogenic bladder, Ataxia, Spastic paraplegia, Parakeratosis, Babinski s... |
OMIM:618527 |
Chromosome 17Q12 Deletion Syndrome |
|
Hypoplasia of the bladder, Nail dysplasia, Ovarian cyst, Unicornuate uterus, Multicystic kidney d... |
OMIM:614527 |
Leprosy |
|
Sparse body hair, Alopecia, Hypohidrosis, Abnormality of the liver, Testicular mass, Abnormality ... |
ORPHA:548 |
Smith-Lemli-Opitz Syndrome |
|
Ambiguous genitalia, Precocious puberty, Hepatic steatosis, Hepatomegaly, Hypertonia, Septate vag... |
OMIM:270400 |
Peroxisome Biogenesis Disorder 1A (Zellweger) |
|
Patent ductus arteriosus, Aminoaciduria, Clitoral hypertrophy, Macroglossia, Intrahepatic biliary... |
OMIM:214100 |
X-Linked Female Restricted Facial Dysmorphism-Short Stature-Choanal Atresia-Intellectual Disability |
|
Patent ductus arteriosus, Cyst of the ductus choledochus, Curly hair, Short stature, Renal dyspla... |
ORPHA:480880 |
Charge Syndrome |
|
Hypothyroidism, Gonadotropin deficiency, Parathyroid hypoplasia, Hypoparathyroidism, Postnatal gr... |
OMIM:214800 |
Spastic Paraplegia 20, Autosomal Recessive |
|
Flexion contracture, Ankle clonus, Lower limb muscle weakness, Spastic gait, Short stature, Upper... |
OMIM:275900 |
19Q13.11 Microdeletion Syndrome |
|
Sparse lateral eyebrow, Bifid scrotum, Cachexia, Supernumerary nipple, Fine hair, Failure to thri... |
ORPHA:217346 |
Tubulointerstitial Nephritis And Uveitis Syndrome |
|
Tubulointerstitial nephritis, Aminoaciduria, Reduced hematocrit, Weight loss, Beta 2-microglobuli... |
ORPHA:91500 |
Kyphoscoliotic Ehlers-Danlos Syndrome Due To Fkbp22 Deficiency |
|
Skeletal muscle atrophy, Myopathy, Follicular hyperkeratosis |
ORPHA:300179 |
Hereditary Mucoepithelial Dysplasia |
|
Alopecia, Hematuria, Fine hair, Abnormality of the bladder, Hyperkeratosis, Sparse hair, Abnormal... |
ORPHA:1839 |
Intellectual Disability-Polydactyly-Uncombable Hair Syndrome |
|
Aplasia/Hypoplasia of the eyebrow, Short stature, Hypoplasia of penis, Uncombable hair, Cryptorch... |
ORPHA:3082 |
Rapp-Hodgkin Syndrome |
|
Sparse eyebrow, Hypohidrosis, Small nail, Short stature, Hypoplastic labia majora, Supernumerary ... |
OMIM:129400 |
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease |
|
Spasticity, Hypohidrosis, Spastic tetraplegia, White eyelashes, Torticollis, Myoclonus, White eye... |
OMIM:609136 |
Keratoderma Hereditarium Mutilans With Ichthyosis |
|
Generalized ichthyosis, Alopecia, Orthokeratosis, Palmoplantar hyperkeratosis, Honeycomb palmopla... |
ORPHA:79395 |
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency |
|
Horizontal eyebrow, Short stature, Frontal upsweep of hair, Camptodactyly, Macroglossia, Ataxia, ... |
ORPHA:369891 |
Cockayne Syndrome A |
|
Irregular menstruation, Dry hair, Splenomegaly, Hip contracture, Hypogonadism, Short stature, Anh... |
OMIM:216400 |
Webb-Dattani Syndrome |
|
Vesicoureteral reflux, Spasticity, Diabetes insipidus, Decreased response to growth hormone stimu... |
OMIM:615926 |
Immunodeficiency 58 |
|
Ichthyosis, Decreased T cell activation, Short stature, Decreased circulating antibody level, Dys... |
OMIM:618131 |
2Q32Q33 Microdeletion Syndrome |
|
Short stature, Decreased testicular size, Fine hair, Growth delay, Sparse hair |
ORPHA:251019 |
Renal Caliceal Diverticuli-Deafness Syndrome |
|
Abnormality of the kidney, Hydroureter, Abnormality of the upper urinary tract, Abnormality of th... |
ORPHA:2838 |
Craniometadiaphyseal Dysplasia, Wormian Bone Type |
|
Curly hair |
ORPHA:85184 |
Ichthyosis, Hystrix-Like, With Deafness |
|
Sparse eyebrow, Sparse scalp hair, Ichthyosis, Absent eyelashes, Cobblestone-like hyperkeratosis,... |
OMIM:602540 |
Lymphangiectasia, Pulmonary, Congenital |
|
Polyhydramnios, Pedal edema, Nonimmune hydrops fetalis, Pleural effusion, Edema, Chylous ascites,... |
OMIM:265300 |
Osteopetrosis, Autosomal Recessive 7 |
|
Anemia, Decreased circulating total IgM, Decreased circulating IgA level, Hepatomegaly, Growth de... |
OMIM:612301 |
Distal Monosomy 12Q |
|
Patent ductus arteriosus, Vesicoureteral reflux, Biliary atresia, Congenital hypertrophy of left ... |
ORPHA:96149 |
Cerebellar-Facial-Dental Syndrome |
|
Sparse eyebrow, Foot joint contracture, Infancy onset short-trunk short stature, Limb hypertonia,... |
ORPHA:444072 |
Mucopolysaccharidosis, Type Iiid |
|
Short stature, Synophrys, Elbow flexion contracture, Achilles tendon contracture, Macroglossia, H... |
OMIM:252940 |
Kabuki Syndrome 1 |
|
Sparse eyebrow, Premature thelarche, Crossed fused renal ectopia, Hemolytic anemia, Short stature... |
OMIM:147920 |
Woolly Hair |
|
Sparse body hair, Sparse lateral eyebrow, Brittle hair, Fine hair, Woolly hair, Hypopigmentation ... |
ORPHA:170 |
9Q21.13 Microdeletion Syndrome |
|
Hydronephrosis, Postnatal growth retardation, Cryptorchidism |
ORPHA:531151 |
7Q11.23 Microduplication Syndrome |
|
Patent ductus arteriosus, Horizontal eyebrow, Short stature, Sparse anterior scalp hair, Unilater... |
ORPHA:96121 |
Monilethrix |
|
Abnormal eyebrow morphology, Brittle hair, Fine hair, Abnormality of the nail, Abnormal eyelash m... |
ORPHA:573 |
Bethlem Myopathy |
|
Camptodactyly of finger, Wrist flexion contracture, Limb-girdle muscle weakness, Flexion contract... |
ORPHA:610 |
Ulerythema Ophryogenesis |
|
Sparse lateral eyebrow, Hyperkeratotic papule, Follicular hyperkeratosis |
ORPHA:3406 |
Paget Disease Of Bone 2, Early-Onset |
|
Paraparesis, Tetraparesis, Hydroxyprolinuria |
OMIM:602080 |
Orofaciodigital Syndrome Xv |
|
Hydronephrosis |
OMIM:617127 |
Primary Sclerosing Cholangitis |
|
Hepatocellular carcinoma, Cholangiocarcinoma, Hepatosplenomegaly, Hepatomegaly, Splenomegaly, Hep... |
ORPHA:171 |
Fucosidosis |
|
Hypothyroidism, Spasticity, Decreased muscle mass, Abnormal pyramidal sign, Hyperhidrosis, Spasti... |
ORPHA:349 |
Ectodermal Dysplasia-Sensorineural Deafness Syndrome |
|
Camptodactyly of finger, Short stature, Brittle hair, Joint contracture of the 5th finger, Coarse... |
ORPHA:1883 |
Autosomal Recessive Spastic Paraplegia Type 20 |
|
Spasticity, Ankle clonus, Spastic gait, Short stature, Dysuria, Spastic dysarthria, Babinski sign... |
ORPHA:101000 |
Monilethrix |
|
Alopecia, Brittle hair, Nail dysplasia, Sparse hair, Abnormality of hair texture, Perifollicular ... |
OMIM:158000 |
Cockayne Syndrome B |
|
Dry hair, Small for gestational age, Anhidrosis, Intrauterine growth retardation, Ataxia, Failure... |
OMIM:133540 |
Clouston Syndrome |
|
Alopecia, Sparse eyebrow, Small nail, Short stature, Brittle hair, Palmoplantar hyperkeratosis, A... |
OMIM:129500 |
Ochoa Syndrome |
|
Urinary incontinence, Vesicoureteral reflux, Recurrent urinary tract infections, Cryptorchidism, ... |
ORPHA:2704 |
Fabry Disease |
|
Diabetes insipidus, Anemia, Hypohidrosis, Glomerulopathy, Short stature, Nephrotic syndrome, Abno... |
ORPHA:324 |
Mucolipidosis Type Ii |
|
Knee flexion contracture, Dry hair, Thickened skin, Diastasis recti, Hip contracture, Weight loss... |
ORPHA:576 |
Autosomal Dominant Intellectual Disability-Craniofacial Anomalies-Cardiac Defects Syndrome |
|
Patent ductus arteriosus, Short stature, Growth delay, Cryptorchidism, Hydronephrosis |
ORPHA:457193 |
Carvajal Syndrome |
|
Patchy palmoplantar hyperkeratosis, Woolly hair |
ORPHA:65282 |
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type |
|
Flexion contracture, Small for gestational age, Hypospadias, Intrauterine growth retardation, Mic... |
OMIM:616897 |
Renal Hypoplasia |
|
Vesicoureteral reflux, Hydronephrosis, Abnormal renal cortex morphology, Renal insufficiency, Rec... |
ORPHA:93101 |
Koolen-De Vries Syndrome Due To A Point Mutation |
|
Hypothyroidism, Precocious puberty, Ichthyosis, Pineal cyst, Fair hair, Primary adrenal insuffici... |
ORPHA:363965 |
17Q21.31 Microdeletion Syndrome |
|
Hypothyroidism, Precocious puberty, Ichthyosis, Pineal cyst, Fair hair, Primary adrenal insuffici... |
ORPHA:363958 |
Developmental Delay, Language Impairment, And Ocular Abnormalities |
|
Contracture of the proximal interphalangeal joint of the 5th finger, Apraxia, Short stature, Hydr... |
OMIM:620141 |
Toluene Embryopathy |
|
Hydronephrosis, Abnormal localization of kidney, Short stature, Cryptorchidism |
ORPHA:1920 |
Microcephaly-Lymphedema-Chorioretinopathy Syndrome |
|
Anophthalmia, Lymphedema, Pleural effusion, Edema, Chylothorax, Microphthalmia |
ORPHA:2526 |
Cockayne Syndrome |
|
Cachexia, Action tremor, Hepatomegaly, Hypertonia, Splenomegaly, Postnatal growth retardation, Sp... |
ORPHA:191 |
Chondrodysplasia Punctata 2, X-Linked Dominant |
|
Sparse eyebrow, Rhizomelia, Congenital nonbullous ichthyosiform erythroderma, Failure to thrive, ... |
OMIM:302960 |
Mitochondrial Complex I Deficiency, Nuclear Type 18 |
|
Hydroureter, Myoclonus, Hypertonia, Hydronephrosis |
OMIM:618240 |
Chand Syndrome |
|
Hypohidrosis, Curly hair, Imperforate hymen, Hydroureter, Ataxia, Nail dysplasia |
ORPHA:1401 |
Ichthyosis, Spastic Quadriplegia, And Impaired Intellectual Development |
|
Ichthyosis, Limb hypertonia, Spastic tetraplegia, Congenital nonbullous ichthyosiform erythroderm... |
OMIM:614457 |
Trichohepatoenteric Syndrome 2 |
|
Cirrhosis, Trichorrhexis nodosa, Brittle hair, Small for gestational age, Woolly hair, Failure to... |
OMIM:614602 |
Congenital Anomalies Of Kidney And Urinary Tract 3 |
|
Vesicoureteral reflux, Multicystic kidney dysplasia, Ectopic kidney, Renal hypoplasia, Hydronephr... |
OMIM:618270 |
Trisomy 18 |
|
Camptodactyly of finger, Short stature, Abnormal morphology of female internal genitalia, Abnorma... |
ORPHA:3380 |
Hyperphosphatasia-Intellectual Disability Syndrome |
|
Small nail, Oculomotor apraxia, Myoclonus, Supernumerary nipple, Ataxia, Growth delay, Highly arc... |
ORPHA:247262 |
Spastic Ataxia 4, Autosomal Recessive |
|
Gait ataxia, Spastic ataxia, Limb ataxia, Babinski sign, Spastic paraparesis, Upper limb hyperton... |
OMIM:613672 |
Truncus Arteriosus |
|
Patent ductus arteriosus, Hypoplasia of the thymus, Adrenocortical abnormality, Intrauterine grow... |
ORPHA:3384 |
Czeizel-Losonci Syndrome |
|
Ureteral agenesis, Abnormality of the urinary system, Congenital megaureter, Posterolateral diaph... |
ORPHA:2437 |
Gaucher Disease |
|
Anemia, Cirrhosis, Ichthyosis, Short stature, Increased circulating antibody level, Hepatitis, Oc... |
ORPHA:355 |
Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome |
|
Alopecia, Sparse scalp hair, Absent eyelashes, Pulmonary lymphangiectasia, Membranoproliferative ... |
OMIM:137940 |
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation |
|
Patent ductus arteriosus, Birth length less than 3rd percentile, Small for gestational age, Poste... |
ORPHA:464311 |
Atypical Werner Syndrome |
|
Decreased body weight, Abnormal testis morphology, Calf muscle hypertrophy, Premature graying of ... |
ORPHA:79474 |
Intellectual Developmental Disorder, X-Linked 99, Syndromic, Female-Restricted |
|
Patent ductus arteriosus, Short stature, Abnormality of thyroid physiology, Renal dysplasia, Unil... |
OMIM:300968 |
Myotonic Dystrophy 2 |
|
Decreased circulating total IgM, Hypogonadism, Generalized amyotrophy, Type II diabetes mellitus,... |
OMIM:602668 |
Tetraploidy |
|
Aplasia/Hypoplasia of the thymus, Renal hypoplasia/aplasia, Intrauterine growth retardation, Hydr... |
ORPHA:3305 |
Developmental Delay With Or Without Dysmorphic Facies And Autism |
|
Patent ductus arteriosus, Vesicoureteral reflux, Small nail, Short stature, Microphallus, Supernu... |
OMIM:618454 |
Autosomal Recessive Spastic Ataxia-Optic Atrophy-Dysarthria Syndrome |
|
Progressive gait ataxia, Myoclonus, Babinski sign, Spastic paraparesis, Upper limb hypertonia, Fr... |
ORPHA:254343 |
Kury-Isidor Syndrome |
|
Hypertrichosis, Alopecia, Growth delay, Hydronephrosis |
OMIM:619762 |
Spinocerebellar Ataxia Type 40 |
|
Gait ataxia, Dysdiadochokinesis, Spastic paraparesis, Dysmetria, Intention tremor |
ORPHA:423275 |
Isotretinoin-Like Syndrome |
|
Patent ductus arteriosus, Intrauterine growth retardation, Lymphopenia, Postnatal growth retardation |
ORPHA:2306 |
Lymphatic Malformation 4 |
|
Toenail dysplasia, Hyperkeratosis, Hydrocele testis |
OMIM:615907 |
Neurodegeneration With Brain Iron Accumulation 6 |
|
Spastic tetraplegia, Rigidity, Spastic paraparesis, Distal amyotrophy, Bradykinesia |
OMIM:615643 |
Focal Segmental Glomerulosclerosis And Neurodevelopmental Syndrome |
|
Nephrotic syndrome, Synophrys, Ataxia, Glomerular sclerosis, Fine hair, Glomerulonephritis, Hypos... |
OMIM:619428 |
Dyrk1A-Related Intellectual Disability Syndrome |
|
Patent ductus arteriosus, Anterior pituitary hypoplasia, Multiple joint contractures, Short statu... |
ORPHA:464306 |
Dubowitz Syndrome |
|
Sparse scalp hair, Sparse lateral eyebrow, Short stature, Acute lymphoblastic leukemia, Hypospadi... |
OMIM:223370 |
Trichothiodystrophy 6, Nonphotosensitive |
|
Tiger tail banding, Ichthyosis, Mild intrauterine growth retardation, Short stature, Small for ge... |
OMIM:616943 |
Spastic Ataxia 5, Autosomal Recessive |
|
Spasticity, Spastic ataxia, Lower limb muscle weakness, Dysdiadochokinesis, Oculomotor apraxia, M... |
OMIM:614487 |
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome |
|
Abnormality of the anterior pituitary, Vesicoureteral reflux, Anemia, Increased circulating prola... |
ORPHA:438213 |
Bladder Dysfunction, Autonomic, With Impaired Pupillary Reflex And Secondary Cakut |
|
Vesicoureteral reflux, Neurogenic bladder, Recurrent urinary tract infections, Failure to thrive,... |
OMIM:191800 |
Palmoplantar Keratoderma I, Striate, Focal, Or Diffuse |
|
Hyperhidrosis, Yellow nails, Palmoplantar hyperkeratosis, Orthokeratotic hyperkeratosis, Onycholy... |
OMIM:148700 |
Choroidal Atrophy-Alopecia Syndrome |
|
Supernumerary nipple, Fine hair, Abnormal fingernail morphology, Abnormal toenail morphology, Ung... |
ORPHA:1433 |
22Q11.2 Duplication Syndrome |
|
Aplasia/Hypoplasia of the thymus, Urethral stenosis, Growth delay, Displacement of the urethral m... |
ORPHA:1727 |
Alg9-Cdg |
|
Hypoplasia of the bladder, Periportal fibrosis, Rhizomelia, Bicornuate uterus, Enlarged kidney, T... |
ORPHA:79328 |
Musculocontractural Ehlers-Danlos Syndrome |
|
Decreased muscle mass, Arthrogryposis multiplex congenita, Myopathy, Horseshoe kidney, Abnormalit... |
ORPHA:2953 |
Satoyoshi Syndrome |
|
Sparse or absent eyelashes, Short stature, Abnormality of the ovary, Alopecia universalis, Abnorm... |
ORPHA:3130 |
3C Syndrome |
|
Hydronephrosis, Short stature, Hypoplasia of penis, Hypoplastic fingernail, Hypospadias, Postnata... |
ORPHA:7 |
Kabuki Syndrome |
|
Precocious puberty, Crossed fused renal ectopia, Sparse lateral eyebrow, Short stature, Renal hyp... |
ORPHA:2322 |
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal |
|
Knee flexion contracture, Hypoplastic toenails, Renal dysplasia, Enlarged kidney, Polycystic kidn... |
OMIM:608836 |
Pili Torti-Onychodysplasia Syndrome |
|
Sparse body hair, Alopecia, Brittle hair, Absent eyelashes, Generalized keratosis follicularis, A... |
ORPHA:2890 |
Early-Onset Spastic Ataxia-Myoclonic Epilepsy-Neuropathy Syndrome |
|
Spasticity, Lower limb muscle weakness, Dysdiadochokinesis, Abnormal mitochondria in muscle tissu... |
ORPHA:313772 |
Trichothiodystrophy 4, Nonphotosensitive |
|
Decreased fertility, Small nail, Trichorrhexis nodosa, Brittle hair, Woolly hair, Nail dysplasia,... |
OMIM:234050 |
Intellectual Developmental Disorder, Autosomal Dominant 53 |
|
Frontal upsweep of hair, Growth delay, Cryptorchidism, Involuntary movements, Micropenis, Hydrone... |
OMIM:617798 |
Autosomal Agammaglobulinemia |
|
Hepatitis, Failure to thrive, Agammaglobulinemia, Neutropenia |
ORPHA:33110 |
Alopecia-Contractures-Dwarfism-Intellectual Disability Syndrome |
|
Alopecia, Hypohidrosis, Ichthyosis, Moderate postnatal growth retardation, Severe short stature, ... |
ORPHA:1005 |
Cardiomyopathy, Dilated, With Woolly Hair, Keratoderma, And Tooth Agenesis |
|
Ichthyosis, Leukonychia, Woolly hair, Parakeratosis, Fragile nails, Hyperkeratosis, Palmoplantar ... |
OMIM:615821 |
Anophthalmia-Megalocornea-Cardiopathy-Skeletal Anomalies Syndrome |
|
Aniridia, Anophthalmia, Umbilical hernia |
ORPHA:1101 |
Ectodermal Dysplasia 10A, Hypohidrotic/Hair/Nail Type, Autosomal Dominant |
|
Sparse eyebrow, Hypohidrosis, Fine hair, Ridged nail, Sparse eyelashes, Sparse hair, Slow-growing... |
OMIM:129490 |
Cleft Lip/Palate-Ectodermal Dysplasia Syndrome |
|
Sparse eyebrow, Progressive hypotrichosis, Brittle hair, Palmoplantar hyperkeratosis, Nail dyspla... |
OMIM:225060 |
Bathing Suit Ichthyosis |
|
Alopecia, Hypohidrosis, Thickened skin, Ichthyosis, Multiple joint contractures, Palmoplantar hyp... |
ORPHA:100976 |
Gabriele-De Vries Syndrome |
|
Sparse eyebrow, Distal arthrogryposis, Frontal upsweep of hair, Facial hypotonia, Ureteropelvic j... |
OMIM:617557 |
Hypotrichosis 7 |
|
Sparse body hair, Sparse eyebrow, Sparse scalp hair, Brittle hair, Sparse axillary hair, Abnormal... |
OMIM:604379 |
Hereditary Elliptocytosis |
|
Stomatocytosis, Congenital hemolytic anemia, Hemolytic anemia, Elliptocytosis, Jaundice, Reticulo... |
ORPHA:288 |
Trichothiodystrophy 8, Nonphotosensitive |
|
Sparse eyebrow, Spasticity, Ankle clonus, Trichorrhexis nodosa, Spastic diplegia, Babinski sign, ... |
OMIM:619691 |
Hajdu-Cheney Syndrome |
|
Patent ductus arteriosus, Thickened skin, Short stature, Synophrys, Abnormal fingernail morpholog... |
ORPHA:955 |
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins |
|
Patent ductus arteriosus, Asplenia, Diastasis recti, Bicornuate uterus, Hydroureter, Pulmonary ly... |
OMIM:265380 |
Agammaglobulinemia 5, Autosomal Dominant |
|
Agammaglobulinemia |
OMIM:613506 |
Arthrogryposis, Cleft Palate, Craniosynostosis, And Impaired Intellectual Development |
|
Vesicoureteral reflux, Decreased body weight, Short stature, Arthrogryposis multiplex congenita, ... |
OMIM:618265 |
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome |
|
Vesicoureteral reflux, Hypothyroidism, Macroglossia, Failure to thrive, Abnormality of bladder mo... |
ORPHA:453499 |
Gonadoblastoma |
|
Ambiguous genitalia, Increased serum testosterone level, Gonadal dysgenesis with female appearanc... |
ORPHA:206484 |
Ectodermal Dysplasia 12, Hypohidrotic/Hair/Tooth/Nail Type |
|
Hypoplastic sweat glands, Hypohidrosis, Sparse lateral eyebrow, Trichorrhexis nodosa, Orthokerato... |
OMIM:617337 |
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome |
|
Patent ductus arteriosus, Abnormal renal collecting system morphology, Congenital megaureter, Fai... |
ORPHA:280633 |
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome |
|
Microphthalmia, Anophthalmia |
OMIM:615877 |
Atrophoderma Vermiculata |
|
Hyperkeratotic papule, Follicular hyperkeratosis |
ORPHA:79100 |
Pontocerebellar Hypoplasia, Hypotonia, And Respiratory Insufficiency Syndrome, Neonatal Lethal |
|
Sparse eyebrow, Spasticity, Brittle hair, Hydrocele testis, Hepatomegaly, Neonatal death, Micropenis |
OMIM:618810 |
Cockayne Syndrome Type 1 |
|
Anophthalmia |
ORPHA:90321 |
Fibular Hemimelia |
|
Spina bifida, Anophthalmia |
ORPHA:93323 |
Intellectual Disability, Buenos-Aires Type |
|
Short stature, Spastic gait, Fine hair, Abnormal fingernail morphology, Hyperconvex thumb nails, ... |
ORPHA:3079 |
Joubert Syndrome 21 |
|
Occipital encephalocele, Anophthalmia |
OMIM:615636 |
Ichthyosis, Congenital, Autosomal Recessive 14 |
|
Orthokeratotic hyperkeratosis, Hyperkeratosis, Congenital nonbullous ichthyosiform erythroderma |
OMIM:617571 |
Meckel Syndrome |
|
Encephalocele, Anophthalmia, Aplasia/Hypoplasia of the iris, Anencephaly, Oligohydramnios, Microp... |
ORPHA:564 |
Sjogren-Larsson Syndrome |
|
Spasticity, Flexion contracture, Ichthyosis, Short stature, Spastic paraparesis |
OMIM:270200 |
Trichothiodystrophy 7, Nonphotosensitive |
|
Tiger tail banding, Ichthyosis, Brittle hair, Congenital nonbullous ichthyosiform erythroderma, F... |
OMIM:618546 |
Woolly Hair, Hypotrichosis, Everted Lower Lip, And Outstanding Ears |
|
Sparse hair, Woolly hair |
OMIM:278200 |
Wiedemann-Rautenstrauch Syndrome |
|
Dilatation of renal calices, Camptodactyly of finger, Truncal ataxia, Synophrys, Hepatic steatosi... |
ORPHA:3455 |
Hirschsprung Disease With Hypoplastic Nails And Dysmorphic Facial Features |
|
Small nail, Hydronephrosis |
OMIM:235760 |
Kid Syndrome |
|
Knee flexion contracture, Sparse eyebrow, Hypohidrosis, Trichilemmoma, Scarring alopecia of scalp... |
ORPHA:477 |
Pili Torti |
|
Alopecia, Abnormal eyebrow morphology, Pili torti, Brittle hair, Abnormality of the nail, Abnorma... |
ORPHA:2889 |
Ichthyosis, Congenital, Autosomal Recessive 10 |
|
Generalized ichthyosis, Congenital nonbullous ichthyosiform erythroderma, Orthokeratotic hyperker... |
OMIM:615024 |
Frontonasal Dysplasia-Alopecia-Genital Anomalies Syndrome |
|
Alopecia, Hypogonadism, Fine hair, Cryptorchidism, Small scrotum, Intrauterine growth retardation |
ORPHA:228390 |
Ichthyosis, Congenital, Autosomal Recessive 1 |
|
Alopecia, Flexion contracture, Ichthyosis, Palmoplantar hyperkeratosis, Congenital nonbullous ich... |
OMIM:242300 |
Mucolipidosis Ii Alpha/Beta |
|
Sparse eyebrow, Diastasis recti, Brittle hair, Enlarged kidney, Camptodactyly, Macroglossia, Arth... |
OMIM:252500 |
Opitz Gbbb Syndrome |
|
Patent ductus arteriosus, Vesicoureteral reflux, Abnormality of the urinary system, Short stature... |
ORPHA:2745 |
Microcephaly 26, Primary, Autosomal Dominant |
|
Short stature, Prominent eyelashes, Spastic tetraparesis, Failure to thrive, Hydronephrosis |
OMIM:619179 |
Lamellar Ichthyosis |
|
Aplasia/Hypoplasia of the eyebrow, Ichthyosis, Short stature, Abnormality of the nail, Hyperkerat... |
ORPHA:313 |
Autosomal Recessive Hypohidrotic Ectodermal Dysplasia |
|
Alopecia, Hypohidrosis, Fine hair, Abnormal fingernail morphology, Abnormal toenail morphology, A... |
ORPHA:248 |
Mucopolysaccharidosis Type 3 |
|
Spasticity, Flexion contracture, Abnormal pyramidal sign, Thick hair, Coarse hair, Synophrys, Ade... |
ORPHA:581 |
Linear Verrucous Nevus Syndrome |
|
Abnormality of the kidney, Hyperkeratosis, Sparse scalp hair |
ORPHA:2611 |
Mckusick-Kaufman Syndrome |
|
Urogenital sinus anomaly, Patent ductus arteriosus, Multicystic kidney dysplasia, Short stature, ... |
ORPHA:2473 |
Olmsted Syndrome 1 |
|
Hyperhidrosis, Flexion contracture, Orthokeratosis, Alopecia universalis, Parakeratosis, Nail dys... |
OMIM:614594 |
Holoprosencephaly |
|
Spinal dysraphism, Encephalocele, Branchial anomaly, Anophthalmia, Microphthalmia |
ORPHA:2162 |
Microphthalmia, Lenz Type |
|
Camptodactyly of finger, Short stature, Renal hypoplasia/aplasia, Hydroureter, Hypospadias, Crypt... |
ORPHA:568 |
Microphthalmia, Syndromic 3 |
|
Microphthalmia, Optic nerve aplasia, Anophthalmia, Optic nerve hypoplasia |
OMIM:206900 |
Olmsted Syndrome 2 |
|
Flexion contracture of digit, Alopecia universalis, Palmoplantar hyperkeratosis, Woolly hair, Par... |
OMIM:619208 |
Ectodermal Dysplasia-Syndactyly Syndrome 1 |
|
Alopecia, Hypoplastic toenails, Small nail, Sparse scalp hair, Pili torti, Palmar hyperkeratosis,... |
OMIM:613573 |
Marburg Hemorrhagic Fever |
|
Leukopenia, Renal insufficiency, Increased circulating antibody level, Jaundice, Reticulocytosis,... |
ORPHA:99826 |
Ectodermal Dysplasia 4, Hair/Nail Type |
|
Sparse body hair, Alopecia, Pili torti, Brittle hair, Absent eyelashes, Temporal hypotrichosis, O... |
OMIM:602032 |
Global Developmental Delay-Neuro-Ophthalmological Abnormalities-Seizures-Intellectual Disability Syndrome |
|
Failure to thrive, Growth delay, Limb hypertonia, Hydronephrosis |
ORPHA:488613 |
Fryns Syndrome |
|
Vesicoureteral reflux, Multicystic kidney dysplasia, Bicornuate uterus, Hypoplastic fingernail, C... |
ORPHA:2059 |
Marden-Walker Syndrome |
|
Camptodactyly of finger, Renal dysplasia, Aplasia/Hypoplasia involving the skeletal musculature, ... |
ORPHA:2461 |
Oculocerebrorenal Syndrome Of Lowe |
|
Aminoaciduria, Glomerulopathy, Thrombocytopenia, Nephrolithiasis, Diabetes insipidus, Delayed pub... |
ORPHA:534 |
Olmsted Syndrome, X-Linked |
|
Palmoplantar hyperkeratosis, Alopecia totalis, Parakeratosis, Hyperkeratosis, Subungual hyperkera... |
OMIM:300918 |
Mesomelia-Synostoses Syndrome |
|
Abnormal eyebrow morphology, Short stature, Hydronephrosis |
ORPHA:2496 |
Congenital Disorder Of Glycosylation, Type If |
|
Flexion contracture, Renal cortical cysts, Ataxia, Failure to thrive, Hypertonia, Hyperkeratosis |
OMIM:609180 |
Microcephaly, Developmental Delay, And Brittle Hair Syndrome |
|
Flexion contracture, Ankle clonus, Abnormal pyramidal sign, Dysdiadochokinesis, Short stature, Sm... |
OMIM:618891 |
Odontoonychodermal Dysplasia |
|
Sparse body hair, Hyperhidrosis, Hypohidrosis, Dystrophic toenail, Sparse scalp hair, Dry hair, H... |
OMIM:257980 |
Retinal Dystrophy, Iris Coloboma, And Comedogenic Acne Syndrome |
|
Patent ductus arteriosus, Follicular hyperkeratosis |
OMIM:615147 |
Ogden Syndrome |
|
Aplasia/Hypoplasia of the eyebrow, Torticollis, Fine hair, Hypertonia, Cryptorchidism, Postnatal ... |
ORPHA:276432 |
Fetal Hydantoin Syndrome |
|
Short stature, Bifid scrotum, Coarse hair, Hypoplastic fingernail, Cryptorchidism, Low posterior ... |
ORPHA:1912 |
Kindler Epidermolysis Bullosa |
|
Camptodactyly of finger, Anemia, Flexion contracture, Phimosis, Urethral stricture, Palmoplantar ... |
ORPHA:2908 |
Smith-Lemli-Opitz Syndrome |
|
Patent ductus arteriosus, Ambiguous genitalia, Multicystic kidney dysplasia, Rhizomelia, Short st... |
ORPHA:818 |
1Q21.1 Microdeletion Syndrome |
|
Patent ductus arteriosus, Vesicoureteral reflux, Short stature, Failure to thrive, Cryptorchidism... |
ORPHA:250989 |
Prune Belly Syndrome With Pulmonic Stenosis, Mental Retardation, And Deafness |
|
Hydroureter, Hydronephrosis |
OMIM:264140 |
Palmoplantar Keratoderma And Congenital Alopecia 1 |
|
Alopecia, Sparse eyebrow, Leukonychia, Brittle hair, Epidermal hyperkeratosis, Plantar hyperkerat... |
OMIM:104100 |
Basel-Vanagaite-Smirin-Yosef Syndrome |
|
Sparse eyebrow, Spasticity, Sparse scalp hair, Hypospadias, Contracture of the proximal interphal... |
ORPHA:464738 |
Keratosis Linearis With Ichthyosis Congenita And Sclerosing Keratoderma |
|
Ichthyosis, Honeycomb palmoplantar hyperkeratosis, Congenital nonbullous ichthyosiform erythroder... |
OMIM:601952 |
Orofaciodigital Syndrome Type 1 |
|
Pancreatic cysts, Alopecia, Multicystic kidney dysplasia, Abnormality of the pancreas, Brittle ha... |
ORPHA:2750 |
Okamoto Syndrome |
|
Urinary incontinence, Extension of hair growth on temples to lateral eyebrow, Severe postnatal gr... |
ORPHA:2729 |
Ovarian Fibrothecoma |
|
Increased serum testosterone level, Gonadal calcification, Abnormal circulating hormone concentra... |
ORPHA:314478 |
Autosomal Recessive Malignant Osteopetrosis |
|
Anemia, Lymphadenopathy, Tremor, Growth delay, Hepatomegaly, Abnormality of hair texture, Splenom... |
ORPHA:667 |
Trichodysplasia-Xeroderma Syndrome |
|
Sparse body hair, Alopecia, Sparse eyebrow, Sparse scalp hair, Trichorrhexis nodosa, Pili torti, ... |
ORPHA:3361 |
Posterior Urethral Valve |
|
Vesicoureteral reflux, Hydronephrosis, Urinary incontinence, Enuresis nocturna, Urinary retention... |
ORPHA:93110 |
Pachyonychia Congenita |
|
Alopecia, Palmoplantar hyperhidrosis, Fingernail dysplasia, Failure to thrive, Onychogryposis of ... |
ORPHA:2309 |
Adult Krabbe Disease |
|
Hoffmann sign, Urinary incontinence, Progressive spastic paraparesis, Spasticity, Lower limb musc... |
ORPHA:206448 |
Leukodystrophy, Hypomyelinating, 3 |
|
Abnormal pyramidal sign, Appendicular spasticity, Spastic paraparesis, Failure to thrive, Joint c... |
OMIM:260600 |
Spondyloepimetaphyseal Dysplasia, Sponastrime Type |
|
Rhizomelia, Disproportionate short-limb short stature, Congenital hypothyroidism, Neutropenia, De... |
OMIM:271510 |
Hydrolethalus Syndrome 1 |
|
Agenesis of the diaphragm, Abnormal vagina morphology, Hypospadias, Bifid uterus, Adrenal gland d... |
OMIM:236680 |
Lymphatic Malformation 12 |
|
Hyperkeratosis, Neonatal death, Hydrocele testis |
OMIM:620014 |
Cerebrooculonasal Syndrome |
|
Encephalocele, Anophthalmia, Optic nerve hypoplasia |
OMIM:605627 |
Palmoplantar Hyperkeratosis With Squamous Cell Carcinoma Of Skin And 46,Xx Sex Reversal |
|
Sclerodactyly, Ambiguous genitalia, Small nail, Decreased testicular size, Palmoplantar hyperhidr... |
OMIM:610644 |
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome |
|
Camptodactyly of finger, Ichthyosis, Abnormality of the nail, Hypoplastic fingernail, Abnormal ey... |
ORPHA:2273 |
Mosaic Trisomy 8 |
|
Camptodactyly of finger, Vesicoureteral reflux, Short stature, Decreased testicular size, Cryptor... |
ORPHA:96061 |
Autosomal Dominant Epidermolytic Ichthyosis |
|
Ichthyosis, Weight loss, Congenital bullous ichthyosiform erythroderma, Hyperkeratosis, Palmoplan... |
ORPHA:312 |
Osteopenia-Intellectual Disability-Sparse Hair Syndrome |
|
Fine hair, Sparse scalp hair, Postnatal growth retardation |
ORPHA:2324 |
Hypotrichosis 6 |
|
Sparse eyebrow, Pili torti, Brittle hair, Sparse hair, Sparse eyelashes, Follicular hyperkeratosis |
OMIM:607903 |
Basel-Vanagaite-Smirin-Yosef Syndrome |
|
Spasticity, Hypospadias, Sparse hair, Clitoral hypertrophy, Hydronephrosis |
OMIM:616449 |
Doors Syndrome |
|
Toenail dysplasia, Ambiguous genitalia, Increased urine alpha-ketoglutarate concentration, Malali... |
ORPHA:79500 |
Short Stature, Oligodontia, Dysmorphic Facies, And Motor Delay |
|
Bilateral camptodactyly, Hypothyroidism, Decreased response to growth hormone stimulation test, S... |
OMIM:619234 |
Sarcoidosis |
|
Abnormal lymph node morphology, Hypothyroidism, Increased T cell count, Parotitis, Eosinophilia, ... |
ORPHA:797 |
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency |
|
Ambiguous genitalia, Flexion contracture, Decreased circulating dehydroepiandrosterone-sulfate co... |
ORPHA:95699 |
Progeroid Syndrome, Petty Type |
|
Short stature, Brittle hair, Long eyelashes in irregular rows, Abnormality of the nail, Failure t... |
ORPHA:2963 |
Proteus Syndrome |
|
Macroorchidism, Diabetes insipidus, Neoplasm of the thymus, Thickened skin, Enlarged polycystic o... |
ORPHA:744 |
Amelo-Onycho-Hypohidrotic Syndrome |
|
Hypoplastic toenails, Hypohidrosis, Fine hair, Abnormal fingernail morphology, Onycholysis, Hyper... |
ORPHA:1028 |
Pigmentary Disorder, Reticulate, With Systemic Manifestations, X-Linked |
|
Hypohidrosis, Frontal upsweep of hair, Broad eyebrow, Increased circulating interleukin 8 concent... |
OMIM:301220 |
Developmental And Epileptic Encephalopathy 82 |
|
Spastic paraparesis, Short stature, Decreased body weight, Spastic tetraplegia |
OMIM:618721 |
Muscular Dystrophy, Congenital, Davignon-Chauveau Type |
|
Muscular dystrophy, Follicular hyperkeratosis, Centrally nucleated skeletal muscle fibers |
OMIM:617066 |
Leukodystrophy, Hypomyelinating, 2 |
|
Progressive spasticity, Rigidity, Choreoathetosis, Ataxia, Babinski sign, Spastic paraparesis, He... |
OMIM:608804 |
Zellweger-Like Syndrome Without Peroxisomal Anomalies |
|
Alopecia, Short stature, Brittle hair, Failure to thrive, Hepatomegaly, Intrauterine growth retar... |
ORPHA:50812 |
Beta-Propeller Protein-Associated Neurodegeneration |
|
Parkinsonism, Rigidity, Spastic paraparesis, Tremor, Bradykinesia |
ORPHA:329284 |
Premature Aging Syndrome, Penttinen Type |
|
Thickened skin, Elevated circulating thyroid-stimulating hormone concentration, Palmoplantar hype... |
OMIM:601812 |
Split Cord Malformation |
|
Urinary incontinence, Renal duplication, Detrusor sphincter dyssynergia, Neurogenic bladder, Para... |
ORPHA:573278 |
3Mc Syndrome 1 |
|
Patent ductus arteriosus, Diastasis recti, Synophrys, Supernumerary nipple, Growth delay, Highly ... |
OMIM:257920 |
Noonan Syndrome 1 |
|
Patent ductus arteriosus, Hypogonadism, Short stature, Amegakaryocytic thrombocytopenia, Woolly h... |
OMIM:163950 |
Xeroderma Pigmentosum |
|
Aminoaciduria, Spasticity, Thickened skin, Alopecia, Hypogonadism, Short stature, Decreased testi... |
ORPHA:910 |
Late-Infantile/Juvenile Krabbe Disease |
|
Spastic diplegia, Clumsiness, Upper motor neuron dysfunction, Hemiplegia, Ataxia, Spastic parapar... |
ORPHA:206443 |
Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency |
|
Decreased circulating IgG level, Decreased circulating total IgM, Recurrent urinary tract infecti... |
ORPHA:183675 |
Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome |
|
Microphthalmia, Anophthalmia |
ORPHA:2250 |
Viss Syndrome |
|
Hypereosinophilia, Hypothyroidism, Patent ductus arteriosus, Sparse scalp hair, Alopecia, Short s... |
OMIM:619472 |
Gabriele-De Vries Syndrome |
|
Hypothyroidism, Distal arthrogryposis, Sparse eyebrow, Decreased response to growth hormone stimu... |
ORPHA:506358 |
Ectodermal Dysplasia 7, Hair/Nail Type |
|
Dystrophic toenail, Sparse eyebrow, Sparse scalp hair, Alopecia, Brittle hair, Onycholysis, Abnor... |
OMIM:614929 |
Coffin-Siris Syndrome 1 |
|
Thick eyebrow, Postnatal growth retardation, Gait ataxia, Lumbosacral hirsutism, Cryptorchidism, ... |
OMIM:135900 |
Jaberi-Elahi Syndrome |
|
Gait ataxia, Sparse eyebrow, Appendicular spasticity, Brittle hair, Choreoathetosis, Fine hair, F... |
OMIM:617988 |
Fowler Urethral Sphincter Dysfunction Syndrome |
|
Urinary incontinence, Urinary retention, Dysuria, Abnormality of the ovary, Polycystic ovaries, H... |
ORPHA:2795 |
Pilodental Dysplasia With Refractive Errors |
|
Sparse scalp hair, Brittle hair, Brittle scalp hair, Abnormality of the nail, Follicular hyperker... |
OMIM:262020 |
Toe Syndactyly, Telecanthus, And Anogenital And Renal Malformations |
|
Vesicoureteral reflux, Hypoplasia of the bladder, Crossed fused renal ectopia, Short stature, Bic... |
OMIM:300707 |
Sotos Syndrome |
|
Hypothyroidism, Flexion contracture, Congenital posterior urethral valve, Acute lymphoblastic leu... |
ORPHA:821 |
Hinman Syndrome |
|
Vesicoureteral reflux, Recurrent urinary tract infections, Enuresis, Renal insufficiency, Hydrone... |
ORPHA:84085 |
Pelvis-Shoulder Dysplasia |
|
Camptodactyly of finger, Ambiguous genitalia, Mesomelic/rhizomelic limb shortening, Short stature... |
ORPHA:2839 |
Congenital Anomalies Of Kidney And Urinary Tract 2 |
|
Congenital megaureter, Renal dysplasia, Hydroureter, Ureteropelvic junction obstruction, Renal hy... |
OMIM:143400 |
Cowden Syndrome |
|
Enlarged polycystic ovaries, Adenoma sebaceum, Short stature, Endometrial carcinoma, Abnormality ... |
ORPHA:201 |
Simpson-Golabi-Behmel Syndrome, Type 1 |
|
Supernumerary nipple, Hepatoblastoma, Duplication of renal pelvis, Hepatomegaly, Splenomegaly, Ne... |
OMIM:312870 |
Congenital Disorder Of Glycosylation, Type It |
|
Rhabdomyolysis, Short stature, Hepatitis, Intrahepatic cholestasis, Hepatic steatosis, Increased ... |
OMIM:614921 |
46,Xy Sex Reversal 4 |
|
Hydronephrosis, Sex reversal, Renal dysplasia, Hypoplastic labia majora, Agonadism, Ureteropelvic... |
OMIM:154230 |
Encephalocraniocutaneous Lipomatosis |
|
Hydronephrosis, Alopecia, Pelvic kidney, Cryptorchidism |
OMIM:613001 |
Branchio-Oculo-Facial Syndrome |
|
Multicystic kidney dysplasia, Premature graying of hair, Short stature, Fingernail dysplasia, Ren... |
ORPHA:1297 |
Bardet-Biedl Syndrome 1 |
|
Hepatic fibrosis, Hypogonadism, Decreased testicular size, Poor coordination, Abnormality of the ... |
OMIM:209900 |
Ectodermal Dysplasia-Intellectual Disability-Central Nervous System Malformation Syndrome |
|
Hypothyroidism, Hypohidrosis, Aplasia/Hypoplasia of the eyebrow, Hypoplasia of penis, Supernumera... |
ORPHA:1812 |
Chronic Mucocutaneous Candidiasis |
|
Recurrent urinary tract infections, Hepatitis, Hematuria, Abnormality of the nail, Abnormal finge... |
ORPHA:1334 |
Ogden Syndrome |
|
Global glomerulosclerosis, Hypertonia, Thrombocytopenia, Postnatal growth retardation, Enlarged k... |
OMIM:300855 |
Carey-Fineman-Ziter Syndrome |
|
Hydronephrosis, Short stature, Aplasia of the pectoralis major muscle, Myopathy, Skeletal muscle ... |
ORPHA:1358 |
Satb2-Associated Syndrome Due To A Chromosomal Rearrangement |
|
Decreased testicular size, External genital hypoplasia, Fine hair, Cryptorchidism, Lower limb spa... |
ORPHA:251028 |
Nk-Cell Enteropathy |
|
Increased T cell count |
ORPHA:263665 |
Multiple Carboxylase Deficiency |
|
Alopecia, Ataxia, Organic aciduria, Spastic paraparesis, Limb muscle weakness |
ORPHA:148 |
Urofacial Syndrome 2 |
|
Vesicoureteral reflux, Recurrent urinary tract infections, Urinary urgency, Bladder trabeculation... |
OMIM:615112 |
Congenital Megacalycosis |
|
Tubulointerstitial nephritis, Dilatation of renal calices, Recurrent urinary tract infections, En... |
ORPHA:93109 |
Ectodermal Dysplasia-Blindness Syndrome |
|
Hypohidrosis, Short stature, Fine hair, Abnormal fingernail morphology, Hyperkeratosis, Sparse hair |
ORPHA:1806 |
Hereditary Xanthinuria |
|
Uric acid nephrolithiasis, Crystalluria, Recurrent urinary tract infections, Acute kidney injury,... |
ORPHA:3467 |
Charge Syndrome |
|
Patent ductus arteriosus, Vesicoureteral reflux, Short stature, Bifid scrotum, Anterior hypopitui... |
ORPHA:138 |
Weaver Syndrome |
|
Poor fine motor coordination, Patent ductus arteriosus, Spasticity, Diastasis recti, Joint contra... |
OMIM:277590 |
Biliary, Renal, Neurologic, And Skeletal Syndrome |
|
Biliary cirrhosis, Hepatomegaly, Splenomegaly, Congenital hepatic fibrosis, Diabetes insipidus, H... |
OMIM:619534 |
Endove Syndrome, Limb-Brain Type |
|
Failure to thrive, Recurrent urinary tract infections, Neurogenic bladder, Hydronephrosis |
OMIM:619218 |
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Dominant |
|
Knee flexion contracture, Sparse eyebrow, Hypohidrosis, Ichthyosis, Elbow flexion contracture, Na... |
OMIM:148210 |
Mowat-Wilson Syndrome |
|
Asplenia, Flexion contracture, Decreased body weight, Broad eyebrow, Camptodactyly, Septate vagin... |
ORPHA:2152 |
Prune1-Related Neurological Syndrome |
|
Spastic tetraparesis, Spastic paraparesis, Tongue fasciculations, Clonus |
ORPHA:544469 |
Ectodermal Dysplasia And Immunodeficiency 1 |
|
Abnormal circulating IgG level, Reduced natural killer cell activity, Aplasia of the eccrine swea... |
OMIM:300291 |
Robinow Syndrome, Autosomal Recessive 1 |
|
Renal duplication, Small nail, Short stature, Hypoplastic labia majora, Macroglossia, Clitoral hy... |
OMIM:268310 |
Hereditary Sensory And Autonomic Neuropathy Type 1 |
|
Distal amyotrophy, Hyperkeratosis, Foot dorsiflexor weakness |
ORPHA:36386 |
Acrofacial Dysostosis, Catania Type |
|
Short stature, Hypospadias, Cryptorchidism, Abnormal hair pattern, Coarse hair, Intrauterine grow... |
ORPHA:1786 |
Arthrogryposis And Ectodermal Dysplasia |
|
Hypohidrosis, Joint contracture of the hand, Short stature, Camptodactyly, Trichodysplasia, Diabe... |
OMIM:601701 |
Waardenburg Syndrome, Type 4A |
|
Premature graying of hair, White eyelashes, White eyebrow, Ataxia, Spastic paraparesis, White for... |
OMIM:277580 |
Uncombable Hair Syndrome |
|
Trichodysplasia, Woolly hair, White hair, Patchy alopecia, Coarse hair, Abnormal hair morphology |
ORPHA:1410 |
Microgastria-Limb Reduction Defect Syndrome |
|
Microphthalmia, Arrhinencephaly, Anophthalmia |
ORPHA:2538 |
Menkes Disease |
|
Alopecia, Short stature, Brittle hair, Babinski sign, Hypertonia, Sparse hair, Intrauterine growt... |
OMIM:309400 |
Brain Malformations With Or Without Urinary Tract Defects |
|
Renal hypoplasia, Failure to thrive, Vesicoureteral reflux, Hydronephrosis |
OMIM:613735 |
Intellectual Developmental Disorder, Autosomal Dominant 42 |
|
Limb hypertonia, Neurogenic bladder, Lower limb muscle weakness, Cerebral palsy, Myoclonus, Hemip... |
OMIM:616973 |
Tarp Syndrome |
|
Failure to thrive, Intrauterine growth retardation, Horseshoe kidney, Hydronephrosis |
OMIM:311900 |
Cutis Laxa, Autosomal Recessive, Type Iia |
|
Brittle hair, Failure to thrive, Coarse hair, Abnormality of hair texture, Intrauterine growth re... |
OMIM:219200 |
Craniofacioskeletal Syndrome |
|
Absent gallbladder, Patent ductus arteriosus, Short stature, Hypospadias, Cryptorchidism, Intraut... |
OMIM:300712 |
Desmoid Tumor |
|
Abnormality of the upper urinary tract, Hydronephrosis |
ORPHA:873 |
Peeling Skin Syndrome 5 |
|
Hyperkeratosis |
OMIM:617115 |
S-Adenosylhomocysteine Hydrolase Deficiency |
|
Abnormality of the liver, Muscular dystrophy, Hepatocellular carcinoma, Failure to thrive, Growth... |
ORPHA:88618 |
Trichothiodystrophy 2, Photosensitive |
|
Tiger tail banding, Ichthyosis, Short stature, Congenital nonbullous ichthyosiform erythroderma, ... |
OMIM:616390 |
Renal Dysplasia |
|
Vesicovaginal fistula, Congenital posterior urethral valve, Moderate proteinuria, Abnormal renal ... |
ORPHA:93108 |
Focal Dermal Hypoplasia |
|
Camptodactyly of finger, Patent ductus arteriosus, Alopecia, Multicystic kidney dysplasia, Diasta... |
ORPHA:2092 |
Ichthyosis, Congenital, Autosomal Recessive 6 |
|
Generalized ichthyosis, Hypohidrosis, Orthokeratosis, Congenital nonbullous ichthyosiform erythro... |
OMIM:612281 |
Lichen Planopilaris |
|
Alopecia, Hepatitis, Abnormal fingernail morphology, Onycholysis, Hyperkeratosis |
ORPHA:525 |
Au-Kline Syndrome |
|
Vesicoureteral reflux, Sparse lateral eyebrow, Supernumerary nipple, Chronic kidney disease, Dila... |
OMIM:616580 |
Spinocerebellar Ataxia 34 |
|
Gait ataxia, Spasticity, Abnormal pyramidal sign, Dysdiadochokinesis, Limb ataxia, Epidermal hype... |
OMIM:133190 |
Ifap Syndrome 1, With Or Without Bresheck Syndrome |
|
Renal dysplasia, Ichthyosis follicularis, Nail dysplasia, Subungual hyperkeratosis, Follicular hy... |
OMIM:308205 |
Frontometaphyseal Dysplasia 1 |
|
Camptodactyly of finger, Wrist flexion contracture, Knee flexion contracture, Hydroureter, Elbow ... |
OMIM:305620 |
Microcephalic Osteodysplastic Primordial Dwarfism, Type I |
|
Flexion contracture, Elbow flexion contracture, Sparse eyelashes, Sparse hair, Polycystic kidney ... |
OMIM:210710 |
Ichthyosis, Congenital, Autosomal Recessive 3 |
|
Hypohidrosis, Ichthyosis, Anhidrosis, Congenital nonbullous ichthyosiform erythroderma, Hyperkera... |
OMIM:606545 |
14Q22Q23 Microdeletion Syndrome |
|
Optic nerve aplasia, Anophthalmia |
ORPHA:264200 |
Lethal Congenital Contracture Syndrome 2 |
|
Skeletal muscle atrophy, Arthrogryposis multiplex congenita, Hydronephrosis |
OMIM:607598 |
Riddle Syndrome |
|
Poor hand-eye coordination, Enuresis nocturna, Decreased circulating total IgM, Weight loss, Shor... |
ORPHA:420741 |
Palmoplantar Keratoderma And Woolly Hair |
|
Sparse body hair, Sparse eyebrow, Sparse scalp hair, Leukonychia, Woolly hair, Sparse eyelashes, ... |
OMIM:616099 |
Congenital Disorder Of Glycosylation, Type Im |
|
Alopecia, Sparse eyebrow, Ichthyosis, Failure to thrive, Tetraplegia, Sparse eyelashes, Hyperkera... |
OMIM:610768 |
Mowat-Wilson Syndrome Due To Monosomy 2Q22 |
|
Poor fine motor coordination, Asplenia, Flexion contracture, Broad eyebrow, Camptodactyly, Septat... |
ORPHA:261537 |
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation |
|
Vesicoureteral reflux, Hyperhidrosis, Hypothyroidism, Macroglossia, Supernumerary nipple, Type 1 ... |
ORPHA:453504 |
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion |
|
Vesicoureteral reflux, Hyperhidrosis, Hypothyroidism, Macroglossia, Supernumerary nipple, Type 1 ... |
ORPHA:352665 |
Dowling-Degos Disease |
|
Hyperkeratotic papule, Penile freckling, Abnormal fingernail morphology, Scrotal hyperpigmentatio... |
ORPHA:79145 |
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly |
|
Hepatic fibrosis, Aplasia/Hypoplasia of the eyebrow, Short stature, Polycystic kidney dysplasia, ... |
OMIM:614091 |
Robinow Syndrome |
|
High anterior hairline, Multicystic kidney dysplasia, Small nail, Short stature, Small for gestat... |
ORPHA:97360 |
Homocystinuria Due To Cystathionine Beta-Synthase Deficiency |
|
Methioninuria, Brittle hair, Hepatic steatosis, Failure to thrive, Homocystinuria, Pancreatitis |
OMIM:236200 |
Johanson-Blizzard Syndrome |
|
Hypothyroidism, Fair hair, Urethrovaginal fistula, Abnormality of the nail, Septate vagina, Front... |
OMIM:243800 |
Frontonasal Dysplasia 2 |
|
Sparse eyebrow, Hypohidrosis, Bilateral cryptorchidism, Alopecia totalis, Fine hair, Sparse eyela... |
OMIM:613451 |
Trisomy 8P |
|
Multiple joint contractures, Aplasia/Hypoplasia of the gallbladder, Low posterior hairline, Fetal... |
ORPHA:264450 |
Hallermann-Streiff Syndrome |
|
Sparse body hair, Hypothyroidism, Alopecia, Sparse eyebrow, Sparse hair, Cryptorchidism, Sparse e... |
ORPHA:2108 |
Cousin Syndrome |
|
Wrist flexion contracture, Rhizomelia, Joint contracture of the hand, Ambiguous genitalia, female... |
OMIM:260660 |
Teebi-Shaltout Syndrome |
|
Short stature, Camptodactyly, Ureteral stenosis, Horseshoe kidney, Highly arched eyebrow, Slow-gr... |
OMIM:272950 |
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Microdeletion |
|
Wrist flexion contracture, Flexion contracture, Diastasis recti, Camptodactyly, Macroglossia, Fle... |
ORPHA:254528 |
Neurofibromatosis, Familial Spinal |
|
Paraparesis, Lower limb muscle weakness |
OMIM:162210 |
Charcot-Marie-Tooth Disease, Axonal, Mitochondrial Form, 1 |
|
Interosseus muscle atrophy, Distal lower limb amyotrophy, Neurogenic bladder, Babinski sign, Spas... |
OMIM:500013 |
Thrombocytopenia 1 |
|
Increased circulating IgE level, Increased circulating IgA level, Congenital thrombocytopenia, De... |
OMIM:313900 |
Duane-Radial Ray Syndrome |
|
Vesicoureteral reflux, Crossed fused renal ectopia, Facial palsy, Renal malrotation, Renal agenes... |
OMIM:607323 |
Autosomal Recessive Robinow Syndrome |
|
Camptodactyly of finger, Alopecia, Multicystic kidney dysplasia, Fingernail dysplasia, Hypoplasia... |
ORPHA:1507 |
Weyers Ulnar Ray/Oligodactyly Syndrome |
|
Hydronephrosis |
OMIM:602418 |
White-Kernohan Syndrome |
|
Hypothyroidism, Horizontal eyebrow, Hydroureter, Rectovaginal fistula, Synophrys, Long eyelashes,... |
OMIM:619426 |
Severe Intellectual Disability-Poor Language-Strabismus-Grimacing Face-Long Fingers Syndrome |
|
Fine hair, Hypospadias, Intrauterine growth retardation, Lower limb spasticity |
ORPHA:363686 |
Apert Syndrome |
|
Rhizomelic arm shortening, Hyperhidrosis, Vaginal atresia, Cryptorchidism, Hydronephrosis |
OMIM:101200 |
Lateral Meningocele Syndrome |
|
Patent ductus arteriosus, Decreased muscle mass, Short stature, Neurogenic bladder, Coarse hair, ... |
OMIM:130720 |
Bazex Syndrome |
|
Hypohidrosis, Trichorrhexis nodosa, Pili torti, Coarse hair, Trichoepithelioma, Sparse hair |
OMIM:301845 |
Intellectual Developmental Disorder With Impaired Language And Dysmorphic Facies |
|
Vesicoureteral reflux, Supernumerary nipple, Pelvic kidney, Cryptorchidism, Obesity, Highly arche... |
OMIM:618653 |
Endove Syndrome, Limb-Only Type |
|
Vesicoureteral reflux, Hypoplastic labia majora, Volar fingernail, Hydronephrosis |
OMIM:619217 |
Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii |
|
Alopecia, Spasticity, Abnormal calcium-phosphate regulating hormone level, Rigidity, Hydroureter,... |
ORPHA:2636 |
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities |
|
Patent ductus arteriosus, Urinary incontinence, Exaggerated startle response, Imperforate hymen, ... |
OMIM:619522 |
Bazex-Dupré-Christol Syndrome |
|
Sparse eyebrow, Sparse scalp hair, Trichorrhexis nodosa, Pili torti, Coarse hair, Sparse hair, Sp... |
ORPHA:113 |
Cutis Laxa, Autosomal Recessive, Type Iiib |
|
Flexion contracture, Elbow flexion contracture, Fine hair, Cryptorchidism, Athetosis, Sparse hair... |
OMIM:614438 |
Ectodermal Dysplasia/Short Stature Syndrome |
|
Short stature, Hyperkeratosis, Palmoplantar keratoderma, Anonychia, Nail dystrophy |
OMIM:616029 |
Milroy Disease |
|
Toenail dysplasia, Hyperkeratosis, Hydrocele testis |
ORPHA:79452 |
Neuropathy, Hereditary Sensory, Type If |
|
Hyperkeratosis |
OMIM:615632 |
Arboleda-Tham Syndrome |
|
Patent ductus arteriosus, Hydronephrosis, Upper limb amyotrophy, Recurrent urinary tract infectio... |
OMIM:616268 |
Alexander Disease Type Ii |
|
Spasticity, Urinary bladder sphincter dysfunction, Rigidity, Palatal tremor, Ataxia, Babinski sig... |
ORPHA:363722 |
Amastia, Bilateral, With Ureteral Triplication And Dysmorphism |
|
Patent ductus arteriosus, Ureteral triplication, Absent nipple, Hydronephrosis |
OMIM:104350 |
Acrogeria |
|
Fine hair, Short stature |
ORPHA:2500 |
Baller-Gerold Syndrome |
|
Vesicoureteral reflux, Short stature, Abnormality of the ureter, Growth delay, Abnormal localizat... |
ORPHA:1225 |
Nicolaides-Baraitser Syndrome |
|
Gait ataxia, Dry hair, Sparse scalp hair, Ichthyosis, Short stature, Long eyelashes, Hypertrichos... |
OMIM:601358 |
Ovarian Fibroma |
|
Gonadal calcification, Abnormality of the ovary, Peritonitis, Mesenteric cyst, Ovarian fibroma |
ORPHA:314473 |
Chromomycosis |
|
Lymphangiectasis, Hyperkeratosis, Hyperkeratotic papule, Hyperparakeratosis |
ORPHA:182 |
Baraitser-Winter Cerebrofrontofacial Syndrome |
|
Hydroureter, Abnormality of the upper urinary tract, Failure to thrive, Growth delay, Low posteri... |
ORPHA:2995 |
Woodhouse-Sakati Syndrome |
|
Alopecia, Elevated circulating thyroid-stimulating hormone concentration, Decreased testicular si... |
OMIM:241080 |
Infantile Digital Fibromatosis |
|
Parakeratosis, Hyperkeratosis |
ORPHA:199267 |
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation |
|
Poor fine motor coordination, Asplenia, Flexion contracture, Broad eyebrow, Camptodactyly, Duplic... |
ORPHA:261552 |
Vohwinkel Syndrome, Variant Form |
|
Orthokeratosis, Honeycomb palmoplantar hyperkeratosis, Parakeratosis, Hyperkeratosis, Hypergranul... |
OMIM:604117 |
Mitochondrial Membrane Protein-Associated Neurodegeneration |
|
Urinary incontinence, Spasticity, Parkinsonism, Rigidity, Hand tremor, Babinski sign, Spastic par... |
ORPHA:289560 |
Bjornstad Syndrome |
|
Alopecia, Dry hair, Pili torti, Hypogonadism, Brittle hair, Anhidrosis, Coarse hair, Hair shafts ... |
OMIM:262000 |
Ichthyosis, Congenital, Autosomal Recessive 9 |
|
Hypohidrosis, Orthokeratosis, Congenital nonbullous ichthyosiform erythroderma, Hyperkeratosis, H... |
OMIM:615023 |
Odontotrichoungual-Digital-Palmar Syndrome |
|
Nail dysplasia, Nail dystrophy, Abnormality of hair texture |
OMIM:601957 |
Combined Oxidative Phosphorylation Defect Type 7 |
|
Abnormal pyramidal sign, Lower limb muscle weakness, Ataxia, Facial diplegia, Failure to thrive, ... |
ORPHA:254930 |
Epidermolysis Bullosa Simplex With Pyloric Atresia |
|
Renal duplication, Flexion contracture, Aplasia of the bladder, Renal dysplasia, Muscular dystrop... |
ORPHA:158684 |
Holoprosencephaly 9 |
|
Microphthalmia, Anophthalmia, Optic nerve hypoplasia |
OMIM:610829 |
De Sanctis-Cacchione Syndrome |
|
Spasticity, Bilateral cryptorchidism, Choreoathetosis, Ataxia, Babinski sign, Parakeratosis, Seve... |
OMIM:278800 |
Vulvovaginal Gingival Syndrome |
|
Parakeratosis, Abnormality of female external genitalia, Ridged nail, Abnormality of tumor necros... |
ORPHA:83453 |
Neurodevelopmental Disorder With Cerebral Atrophy And Variable Facial Dysmorphism |
|
Broad eyebrow, Woolly hair, Hirsutism, Cryptorchidism, Highly arched eyebrow, Low anterior hairline |
OMIM:619244 |
Björnstad Syndrome |
|
Alopecia, Hypogonadism, Brittle hair |
ORPHA:123 |
Glycosylphosphatidylinositol Biosynthesis Defect 25 |
|
Short stature, Sparse hair, Ankle flexion contracture, Coarse hair |
OMIM:619985 |
Autosomal Recessive Cutis Laxa Type 2, Classic Type |
|
Spasticity, Decreased muscle mass, Short stature, Failure to thrive, Coarse hair, Sparse hair, In... |
ORPHA:357074 |
Congenital Myopathy 17 |
|
Distal arthrogryposis, Diaphragmatic eventration, Myopathy, Ureteropelvic junction obstruction, R... |
OMIM:618975 |
Trichodental Dysplasia |
|
Slow-growing hair, Sparse hair, Fine hair, Brittle hair |
OMIM:601453 |
Vacterl Association, X-Linked, With Or Without Hydrocephalus |
|
Enlarged kidney, Neonatal death, Urethral atresia, Hydronephrosis |
OMIM:314390 |
15Q Overgrowth Syndrome |
|
Ureterovesical stenosis, Nephroblastoma, Contracture of the proximal interphalangeal joint of the... |
ORPHA:314585 |
Myhre Syndrome |
|
Patent ductus arteriosus, Thickened skin, Birth length less than 3rd percentile, Short stature, S... |
OMIM:139210 |
Focal Dermal Hypoplasia |
|
Diastasis recti, Bifid ureter, Short stature, Brittle hair, Absent toenail, Absent fingernail, La... |
OMIM:305600 |
Alström Syndrome |
|
Poor fine motor coordination, Hepatosplenomegaly, Hepatic steatosis, Glomerulonephritis, Oligospe... |
ORPHA:64 |
Infantile Cataract, Skin Abnormalities, Glutamate Excess, And Impaired Intellectual Development |
|
Parakeratosis, Hyperkeratosis |
OMIM:618339 |
Peters-Plus Syndrome |
|
Patent ductus arteriosus, Diastasis recti, Decreased body weight, Bilobate gallbladder, Rhizomeli... |
OMIM:261540 |
Cole Disease |
|
Orthokeratosis, Punctate palmoplantar hyperkeratosis, Hyperkeratosis, Palmoplantar keratoderma, H... |
OMIM:615522 |
Bor Syndrome |
|
Vesicoureteral reflux, Multicystic kidney dysplasia, Facial palsy, Renal hypoplasia/aplasia, Uret... |
ORPHA:107 |
Velocardiofacial Syndrome |
|
Impaired T cell function, Hypoparathyroidism, Short stature, Cryptorchidism |
OMIM:192430 |
Acrokeratosis Verruciformis Of Hopf |
|
Leukonychia, Parakeratosis, Punctate palmoplantar hyperkeratosis, Acantholysis, Hyperkeratosis, A... |
ORPHA:79151 |
Hypotrichosis 8 |
|
Dry hair, Sparse eyebrow, Sparse scalp hair, Fair hair, Sparse axillary hair, Nail pits, Woolly h... |
OMIM:278150 |
Peeling Skin Syndrome 4 |
|
Ichthyosis, Orthokeratosis, Hyperkeratosis, Palmoplantar keratoderma, Nail dystrophy |
OMIM:607936 |
Hall-Riggs Syndrome |
|
Thick hair, Short stature, Failure to thrive, Coarse hair, Slow-growing hair |
ORPHA:2107 |
Melnick-Needles Syndrome |
|
Vesicoureteral reflux, Short stature, Hydronephrosis |
ORPHA:2484 |
Punctate Palmoplantar Keratoderma Type 1 |
|
Pancreatic adenocarcinoma, Hyperkeratotic papule, Prostate cancer, Orthokeratosis, Renal cell car... |
ORPHA:79501 |
Oeis Complex |
|
Absent scrotum, Vesicovaginal fistula, Ambiguous genitalia, female, Hydroureter, Ambiguous genita... |
OMIM:258040 |
Hair Defect With Photosensitivity And Mental Retardation |
|
Sparse eyebrow, Brittle hair, Coarse hair, Sparse eyelashes, Sparse hair |
OMIM:234030 |
Lipoid Proteinosis |
|
Alopecia of scalp, Hyperkeratosis, Thickened skin |
ORPHA:530 |
Vesicoureteral Reflux 3 |
|
Ureter duplex, Recurrent urinary tract infections, Hydroureter, Grade IV vesicoureteral reflux, G... |
OMIM:613674 |
Turner Syndrome Due To Structural X Chromosome Anomalies |
|
Biliary cirrhosis, Gonadoblastoma, Hepatic steatosis, Increased circulating gonadotropin level, P... |
ORPHA:99413 |
Mosaic Monosomy X |
|
Biliary cirrhosis, Gonadoblastoma, Hepatic steatosis, Increased circulating gonadotropin level, P... |
ORPHA:99228 |
Monosomy X |
|
Biliary cirrhosis, Gonadoblastoma, Hepatic steatosis, Increased circulating gonadotropin level, P... |
ORPHA:99226 |
Turner Syndrome |
|
Biliary cirrhosis, Gonadoblastoma, Hepatic steatosis, Increased circulating gonadotropin level, P... |
ORPHA:881 |
Bardet-Biedl Syndrome 12 |
|
Hypogonadism, Hydroureter, Hydrometrocolpos, Cystic renal dysplasia, Vaginal atresia, Obesity, Hy... |
OMIM:615989 |
Hypotrichosis 13 |
|
Abnormal sweat gland morphology, Sparse eyelashes, Sparse hair, Woolly hair |
OMIM:615896 |
Opitz-Kaveggia Syndrome |
|
Spasticity, Multiple joint contractures, Joint contracture of the hand, Short stature, Frontal up... |
OMIM:305450 |
Scalp-Ear-Nipple Syndrome |
|
Hypohidrosis, Thickened skin, Short stature, Sparse axillary hair, Pyelonephritis, Unilateral ren... |
OMIM:181270 |
Vulto-Van Silfhout-De Vries Syndrome |
|
Widow's peak, Horizontal eyebrow, Fine hair |
OMIM:615828 |
Trichorhinophalangeal Syndrome, Type I |
|
Sparse lateral eyebrow, Leukonychia, Short stature, Thin eyebrow, Fine hair, Thin nail, Growth de... |
OMIM:190350 |
Glycogen Storage Disease Due To Lactate Dehydrogenase M-Subunit Deficiency |
|
Acute kidney injury, Exercise-induced myoglobinuria, Exercise-induced rhabdomyolysis, Parakeratos... |
ORPHA:284426 |
Floating-Harbor Syndrome |
|
Precocious puberty, Short stature, Small for gestational age, Congenital posterior urethral valve... |
ORPHA:2044 |
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type |
|
Rhizomelia, Hyperkeratosis, Intrauterine growth retardation, Short stature |
ORPHA:163966 |
Microphthalmia With Linear Skin Defects Syndrome |
|
Microphthalmia, Anophthalmia |
ORPHA:2556 |
Harlequin Ichthyosis |
|
Hyperkeratosis, Ichthyosis, Congenital ichthyosiform erythroderma |
ORPHA:457 |
X-Linked Parkinsonism-Spasticity Syndrome |
|
Spasticity, Ankle clonus, Resting tremor, Babinski sign, Spastic paraparesis, Scissor gait, Cogwh... |
ORPHA:363654 |
Keratosis Follicularis Spinulosa Decalvans, X-Linked |
|
Sparse eyebrow, Scarring alopecia of scalp, Follicular hyperkeratosis, Sparse eyelashes, Palmopla... |
OMIM:308800 |
Pelizaeus-Merzbacher Disease In Female Carriers |
|
Abnormality of the lower urinary tract, Neurogenic bladder, Babinski sign, Spastic paraparesis, H... |
ORPHA:280229 |
Marie Unna Hereditary Hypotrichosis |
|
Alopecia, Aplasia/Hypoplasia of the eyebrow, Sparse scalp hair, Coarse hair, Sparse or absent eye... |
ORPHA:444 |
Peters Plus Syndrome |
|
Patent ductus arteriosus, Renal duplication, Multicystic kidney dysplasia, Rhizomelia, Short stat... |
ORPHA:709 |
Fraser Syndrome 1 |
|
Bilateral microphthalmos, Myelomeningocele, Encephalocele, Anophthalmia |
OMIM:219000 |
Tetrasomy 9P |
|
Absent gallbladder, Pilomatrixoma, Biliary atresia, Renal dysplasia, Recurrent urinary tract infe... |
ORPHA:3310 |
Tyrosinemia Type 2 |
|
Hyperhidrosis, Ataxia, Abnormality of the nail, Tremor, Hyperkeratosis, Palmoplantar keratoderma |
ORPHA:28378 |
Meige Disease |
|
Absence of lymph node germinal center, Cobblestone-like hyperkeratosis, Lymph node hypoplasia |
ORPHA:90186 |
Raine Syndrome |
|
Short stature, Hydroureter, Neonatal death, Highly arched eyebrow, Arthrogryposis multiplex conge... |
OMIM:259775 |
Cat Eye Syndrome |
|
Patent ductus arteriosus, Vesicoureteral reflux, Biliary atresia, Short stature, Renal agenesis, ... |
OMIM:115470 |
Thakker-Donnai Syndrome |
|
Congenital diaphragmatic hernia, Rectovaginal fistula, Intrauterine growth retardation, Hydroneph... |
ORPHA:1780 |
X-Linked Charcot-Marie-Tooth Disease Type 2 |
|
Distal lower limb amyotrophy, Clasp-knife sign, Hand tremor, Babinski sign, Spastic paraparesis, ... |
ORPHA:101076 |
Trichodermodysplasia-Dental Alterations Syndrome |
|
Sparse scalp hair, Sparse lateral eyebrow, Aplasia/Hypoplasia of the eyebrow, Adenoma sebaceum, B... |
ORPHA:3353 |
Mckusick-Kaufman Syndrome |
|
Vesicovaginal fistula, Hydroureter, Polycystic kidney dysplasia, Transverse vaginal septum, Hydro... |
OMIM:236700 |
Cardiomyopathy, Dilated, With Woolly Hair And Keratoderma |
|
Palmoplantar keratoderma, Woolly hair |
OMIM:605676 |
Marshall-Smith Syndrome |
|
Patent ductus arteriosus, Decreased body weight, Short stature, Brittle hair, Synophrys, Bilatera... |
OMIM:602535 |
Ichthyosis, Congenital, Autosomal Recessive 8 |
|
Hyperkeratosis, Ichthyosis, Hypergranulosis, Orthokeratosis |
OMIM:613943 |
Mandibuloacral Dysplasia With Type B Lipodystrophy |
|
Alopecia, Hyperinsulinemia, Flexion contracture, Brittle hair, Stage 5 chronic kidney disease, Gr... |
OMIM:608612 |
Hypotrichosis And Recurrent Skin Vesicles |
|
Sparse body hair, Sparse eyebrow, Sparse scalp hair, Leukonychia, Sparse axillary hair, Sparse ha... |
OMIM:613102 |
Ectodermal Dysplasia 13, Hair/Tooth Type |
|
Sparse eyelashes, Thin eyebrow, Low anterior hairline, Brittle hair |
OMIM:617392 |
Porokeratosis 3, Multiple Types |
|
Parakeratosis, Porokeratosis, Nail dystrophy |
OMIM:175900 |
Ectodermal Dysplasia 11A, Hypohidrotic/Hair/Tooth Type, Autosomal Dominant |
|
Absent hair, Hypohidrosis, Brittle hair, Anhidrosis, Absent nipple, Sparse hair |
OMIM:614940 |
Proboscis Lateralis |
|
Microphthalmia, Anophthalmia, Optic nerve hypoplasia |
ORPHA:141099 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 12 |
|
Palmoplantar keratoderma, Woolly hair |
OMIM:611528 |
Hallermann-Streiff Syndrome |
|
Sparse eyebrow, Sparse scalp hair, Small for gestational age, Choreoathetosis, Fine hair, Cryptor... |
OMIM:234100 |
Erythrokeratodermia Variabilis Et Progressiva 7 |
|
Dystrophic toenail, Anhidrosis, Palmoplantar hyperkeratosis, Woolly hair |
OMIM:619209 |
Fontaine Progeroid Syndrome |
|
Synophrys, Hypoplastic labia majora, Coarse hair, Small nail, Absent nipple, Left ventricular hyp... |
OMIM:612289 |
Xanthinuria, Type I |
|
Pyelonephritis, Xanthine nephrolithiasis, Myopathy, Xanthinuria, Hydronephrosis |
OMIM:278300 |
Fraser Syndrome |
|
Myelomeningocele, Encephalocele, Anophthalmia, Microphthalmia, Umbilical hernia |
ORPHA:2052 |
Ectodermal Dysplasia 1, Hypohidrotic, X-Linked |
|
Sparse body hair, Sparse eyebrow, Hypohidrosis, Brittle hair, Absent eyelashes, Anhidrosis, Absen... |
OMIM:305100 |
Campomelic Dysplasia |
|
Ambiguous genitalia, Male pseudohermaphroditism, Short stature, Hydronephrosis |
ORPHA:140 |
Skin Fragility-Woolly Hair Syndrome |
|
Sparse eyebrow, Alopecia, Palmoplantar hyperkeratosis, Woolly hair, Failure to thrive, Acantholys... |
OMIM:607655 |
Hyperkeratosis Lenticularis Perstans |
|
Hyperkeratosis lenticularis perstans |
ORPHA:409 |
Woolly Hair, Autosomal Dominant |
|
Dry hair, Abnormal eyebrow morphology, Palmoplantar hyperkeratosis, Woolly hair, Abnormal eyelash... |
OMIM:194300 |
Pachyonychia Congenita 2 |
|
Dry hair, Sparse eyebrow, Sparse scalp hair, Palmoplantar hyperhidrosis, Palmoplantar hyperkerato... |
OMIM:167210 |
Microphthalmia, Syndromic 2 |
|
Microphthalmia, Anophthalmia, Umbilical hernia |
OMIM:300166 |
Feingold Syndrome Type 1 |
|
Patent ductus arteriosus, Vesicoureteral reflux, Short stature, Renal dysplasia, Abnormality of t... |
ORPHA:391641 |
Orofaciodigital Syndrome Type 3 |
|
Spasticity, Stage 5 chronic kidney disease, Oculomotor apraxia, Myoclonus, Abnormality of hair te... |
ORPHA:2752 |
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion |
|
Patent ductus arteriosus, Vesicoureteral reflux, Pilomatrixoma, Short stature, Recurrent urinary ... |
ORPHA:353281 |
Pityriasis Rubra Pilaris |
|
Orthokeratosis, Parakeratosis, Subungual hyperkeratosis, Palmoplantar keratoderma, Hypergranulosis |
OMIM:173200 |
Foix-Alajouanine Syndrome |
|
Urinary incontinence, Female sexual dysfunction, Progressive spastic paraparesis, Urinary retenti... |
ORPHA:79093 |
Brachycephaly, Trichomegaly, And Developmental Delay |
|
Short stature, Brittle hair, Synophrys, Long eyelashes, Thick eyebrow, Highly arched eyebrow |
OMIM:617412 |
Coasy Protein-Associated Neurodegeneration |
|
Spastic paraparesis, Parkinsonism |
ORPHA:397725 |
Orofaciodigital Syndrome I |
|
Pancreatic cysts, Alopecia, Hepatic fibrosis, Dry hair, Short stature, Polycystic kidney dysplasi... |
OMIM:311200 |
Mednik Syndrome |
|
Hyperkeratosis, Ichthyosis, Intrahepatic cholestasis |
ORPHA:171851 |
Floating-Harbor Syndrome |
|
Short stature, Congenital posterior urethral valve, Low posterior hairline, Generalized hypertric... |
OMIM:136140 |
Frontometaphyseal Dysplasia |
|
Camptodactyly of finger, Wrist flexion contracture, Joint contracture of the hand, Elbow flexion ... |
ORPHA:1826 |
Alacrima, Achalasia, And Impaired Intellectual Development Syndrome |
|
High anterior hairline, Spasticity, Hypohidrosis, Adrenal insufficiency, Ataxia, Hyperkeratosis |
OMIM:615510 |
Otopalatodigital Syndrome Type 2 |
|
Camptodactyly of finger, Failure to thrive, Hypospadias, Ureteral obstruction, Hydronephrosis |
ORPHA:90652 |
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency |
|
Patent ductus arteriosus, Vesicoureteral reflux, Pilomatrixoma, Short stature, Recurrent urinary ... |
ORPHA:353284 |
Rubinstein-Taybi Syndrome Due To Crebbp Mutations |
|
Patent ductus arteriosus, Vesicoureteral reflux, Pilomatrixoma, Short stature, Recurrent urinary ... |
ORPHA:353277 |
Ichthyosis Prematurity Syndrome |
|
Generalized ichthyosis, Alopecia of scalp, Follicular hyperkeratosis |
OMIM:608649 |
Microphthalmia With Limb Anomalies |
|
Arrhinencephaly, Microphthalmia, True anophthalmia |
ORPHA:1106 |
Intellectual Developmental Disorder, Fra12A Type |
|
Hyperkeratosis |
OMIM:136630 |
X-Linked Intellectual Disability, Golabi-Ito-Hall Type |
|
Dry hair, Spasticity, Spastic diplegia, Short stature, Brittle hair, Macroglossia, Growth delay, ... |
ORPHA:93947 |
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate Syndrome |
|
Dystrophic fingernails, Dystrophic toenail, Hypohidrosis, Sparse eyebrow, Supernumerary nipple, H... |
ORPHA:1071 |
Neurofibromatosis Type 1 Due To Nf1 Mutation Or Intragenic Deletion |
|
Lower limb dysmetria, Short stature, Granuloma, Renal hypoplasia/aplasia, Abnormal renal morpholo... |
ORPHA:363700 |
Irida Syndrome |
|
Hyperkeratosis, Ichthyosis, Intrahepatic cholestasis |
ORPHA:209981 |
Lichen Planus Pemphigoides |
|
Hyperkeratosis, Abnormality of the nail |
ORPHA:254478 |
Amaurosis-Hypertrichosis Syndrome |
|
Synophrys, Thick eyebrow, Abnormal eyelash morphology, Coarse hair |
ORPHA:1021 |
Robinow Syndrome, Autosomal Dominant 1 |
|
Renal duplication, Rhizomelia, Short stature, Hypoplastic labia majora, Macroglossia, Clitoral hy... |
OMIM:180700 |
Mycetoma |
|
Abnormality of the lymphatic system, Paraplegia, Cobblestone-like hyperkeratosis |
ORPHA:2583 |
Autosomal Recessive Spastic Paraplegia Type 55 |
|
Tibialis muscle weakness, Poor fine motor coordination, Spasticity, Lower limb muscle weakness, B... |
ORPHA:320375 |
Erythrokeratodermia Variabilis Et Progressiva 1 |
|
Hypergranulosis, Generalized hyperkeratosis, Patchy palmoplantar hyperkeratosis |
OMIM:133200 |
Cataracts, Spastic Paraparesis, And Speech Delay |
|
Spastic paraparesis |
OMIM:619338 |
Psoriasis 2 |
|
Parakeratosis, Hyperkeratosis |
OMIM:602723 |
Adult Syndrome |
|
Alopecia, Toenail dysplasia, Sparse scalp hair, Fingernail dysplasia, Absent nipple, Abnormality ... |
ORPHA:978 |
46,Xx Disorder Of Sex Development-Skeletal Anomalies Syndrome |
|
Increased size of the clitoris, Ambiguous genitalia, female, Abnormality of the ovary, Abnormalit... |
ORPHA:2975 |
Palmoplantar Carcinoma, Multiple Self-Healing |
|
Parakeratosis, Palmoplantar keratoderma, Follicular hyperkeratosis, Nail dystrophy |
OMIM:615225 |
Progeroid Short Stature With Pigmented Nevi |
|
Short stature, Small for gestational age, Premature ovarian insufficiency, Diabetes mellitus, Hyp... |
OMIM:176690 |
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 2 |
|
Hypospadias, Intrauterine growth retardation, Postnatal growth retardation, Brittle hair |
OMIM:619184 |
Junctional Epidermolysis Bullosa With Pyloric Atresia |
|
Renal duplication, Renal dysplasia, Hematuria, Urethral stricture, Urinary bladder inflammation, ... |
ORPHA:79403 |
Porokeratosis 7, Multiple Types |
|
Parakeratosis, Porokeratosis |
OMIM:614714 |
Porokeratosis 1, Multiple Types |
|
Parakeratosis, Porokeratosis |
OMIM:175800 |
Global Developmental Delay-Osteopenia-Ectodermal Defect Syndrome |
|
Hypoplastic sweat glands, Thickened skin, Epidermal thickening, Synophrys, Hypophosphaturia, Orth... |
ORPHA:73223 |
Penile Agenesis |
|
Ambiguous genitalia, Absent penis, Bilateral renal agenesis, Urethral fistula, Hydroureter, Cysti... |
ORPHA:49 |
Menkes Disease |
|
Chorea, Aplasia/Hypoplasia of the abdominal wall musculature, Thickened skin, Spasticity, Bladder... |
ORPHA:565 |
Holoprosencephaly 3 |
|
Central diabetes insipidus, Hydronephrosis |
OMIM:142945 |
Peeling Skin With Leukonychia, Acral Punctate Keratoses, Cheilitis, And Knuckle Pads |
|
Leukonychia, Onycholysis, Punctate palmoplantar hyperkeratosis, Acantholysis, Hyperkeratosis, Fol... |
OMIM:616295 |
Melnick-Needles Syndrome |
|
Frontal hirsutism, Failure to thrive, Ureteral stenosis, Stillbirth, Coarse hair, Hydronephrosis |
OMIM:309350 |
Galloway-Mowat Syndrome 9 |
|
Stage 5 chronic kidney disease, Choreoathetosis, Diffuse mesangial sclerosis, Coarse hair, Focal ... |
OMIM:619603 |
Hyperpigmentation With Or Without Hypopigmentation, Familial Progressive |
|
Hyperkeratosis |
OMIM:145250 |
Homocystinuria Due To Methylene Tetrahydrofolate Reductase Deficiency |
|
Lower limb muscle weakness, Hemiparesis, Upper motor neuron dysfunction, Ataxia, Spastic parapare... |
ORPHA:395 |
Tricho-Retino-Dento-Digital Syndrome |
|
Uncombable hair, Sparse hair |
ORPHA:1264 |
Genitopatellar Syndrome |
|
Knee flexion contracture, Hypothyroidism, Multicystic kidney dysplasia, Hip contracture, Sparse s... |
OMIM:606170 |
46,Xx Disorder Of Sex Development-Anorectal Anomalies Syndrome |
|
Urogenital sinus anomaly, Multicystic kidney dysplasia, Renal hypoplasia/aplasia, Hydroureter, Fe... |
ORPHA:2973 |
Ehlers-Danlos Syndrome, Musculocontractural Type, 1 |
|
Distal arthrogryposis, Diastasis recti, Nephrotic syndrome, Cryptorchidism, Arthrogryposis multip... |
OMIM:601776 |
Lacrimoauriculodentodigital Syndrome |
|
Patent ductus arteriosus, Vesicoureteral reflux, Bicornuate uterus, Lacrimal gland aplasia, Nail ... |
ORPHA:2363 |
Odontochondrodysplasia 2 With Hearing Loss And Diabetes |
|
Precocious puberty, Moderate albuminuria, Type I diabetes mellitus, Proportionate short stature, ... |
OMIM:619269 |
Cerebellofaciodental Syndrome |
|
Fine hair, Sparse eyebrow, Short stature, Cryptorchidism |
OMIM:616202 |
Pfeiffer Syndrome Type 3 |
|
Vesicoureteral reflux, Horseshoe kidney, Hydronephrosis |
ORPHA:93260 |
Epidermolysis Bullosa Simplex With Circinate Migratory Erythema |
|
Parakeratosis, Nail dystrophy, Palmoplantar hyperkeratosis |
ORPHA:158681 |
Hemihyperplasia-Multiple Lipomatosis Syndrome |
|
Nephroblastoma, Enlarged kidney, Hydrocele testis, Hyperparakeratosis, Ovarian serous cystadenoma... |
ORPHA:276280 |
Neurodegeneration With Brain Iron Accumulation 5 |
|
Parkinsonism, Rigidity, Spastic paraparesis, Tremor, Bradykinesia |
OMIM:300894 |
Gorlin-Chaudhry-Moss Syndrome |
|
Patent ductus arteriosus, Short stature, Coarse hair, Generalized hirsutism, Low anterior hairline |
ORPHA:2095 |
Spinocerebellar Ataxia-Dysmorphism Syndrome |
|
Short stature, Coarse hair |
ORPHA:1185 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 1 |
|
Tubulointerstitial nephritis, Aminoaciduria, Spasticity, Microvesicular hepatic steatosis, Peripo... |
OMIM:124000 |
Craniolenticulosutural Dysplasia |
|
Short stature, Brittle hair, Cryptorchidism, Coarse hair, Sparse hair |
OMIM:607812 |
Ablepharon Macrostomia Syndrome |
|
Camptodactyly of finger, Ambiguous genitalia, Abnormality of female external genitalia, Absent ey... |
ORPHA:920 |
Cranioectodermal Dysplasia 3 |
|
Cirrhosis, Rhizomelia, Short stature, Stage 5 chronic kidney disease, Short nail, Fine hair, Broa... |
OMIM:614099 |
Oculocutaneous Albinism Type 1A |
|
Albinism, Hypopigmentation of hair, Hyperkeratosis, Thickened skin |
ORPHA:79431 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13 |
|
Spasticity, Multicystic kidney dysplasia, Decreased testicular size, Muscular dystrophy, Micropen... |
OMIM:615287 |
Argininemia |
|
Spastic gait, Portal fibrosis, Progressive spastic quadriplegia, Oroticaciduria, Spastic parapare... |
OMIM:207800 |
Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige |
|
Orthokeratosis, Growth delay, Sparse hair, Acantholysis, Palmoplantar keratoderma, Hypergranulosis |
OMIM:615508 |
Restrictive Dermopathy |
|
Camptodactyly of finger, Patent ductus arteriosus, Sparse eyebrow, Multiple joint contractures, C... |
ORPHA:1662 |
Neurodevelopmental Disorder With Ataxia, Hypotonia, And Microcephaly |
|
Hypothyroidism, Spasticity, Dry hair, Intrinsic hand muscle atrophy, Low anterior hairline |
OMIM:618569 |
Occipital Horn Syndrome |
|
Pili torti, Bladder diverticulum, Growth delay, Coarse hair, Ureteral obstruction, Hydronephrosis |
OMIM:304150 |
Erythrokeratodermia Variabilis Et Progressiva 6 |
|
Parakeratosis |
OMIM:618531 |
6Q Terminal Deletion Syndrome |
|
Gait ataxia, Phimosis, Failure to thrive, Hypospadias, Dysmetria, Hyperkeratosis, Obesity, Highly... |
ORPHA:75857 |
Campomelic Dysplasia |
|
Sex reversal, Short nail, Failure to thrive, Contracture of the distal interphalangeal joint of t... |
OMIM:114290 |
Oculodentodigital Dysplasia, Autosomal Recessive |
|
Failure to thrive, Sparse eyelashes, Fine hair, Short stature |
OMIM:257850 |
Branchiooculofacial Syndrome |
|
Microphthalmia, Anophthalmia, Branchial anomaly, Intrauterine growth retardation |
OMIM:113620 |
Conductive Deafness-Ptosis-Skeletal Anomalies Syndrome |
|
Fine hair |
ORPHA:3236 |
Al-Gazali Syndrome |
|
Failure to thrive, Wrist flexion contracture, Hydronephrosis |
OMIM:609465 |
White Sponge Nevus 2 |
|
Hyperparakeratosis |
OMIM:615785 |
Knobloch Syndrome 1 |
|
Patent ductus arteriosus, Horizontal eyebrow, Renal duplication, Bifid ureter, Ataxia, Alopecia o... |
OMIM:267750 |
Pachyonychia Congenita 1 |
|
Nail dystrophy, Follicular hyperkeratosis, Palmoplantar hyperkeratosis, Onychogryposis |
OMIM:167200 |
Primary Lateral Sclerosis |
|
Progressive spastic paraparesis, Spasticity, Spastic gait, Spastic dysarthria, Upper motor neuron... |
ORPHA:35689 |
Argininosuccinic Aciduria |
|
Aminoaciduria, Hepatic fibrosis, Dry hair, Trichorrhexis nodosa, Brittle hair, Ataxia, Oroticacid... |
OMIM:207900 |
Familial Keratoacanthoma |
|
Hyperkeratosis, Adenoma sebaceum |
ORPHA:493 |
15q26 overgrowth syndrome |
|
Camptodactyly of finger, Vesicoureteral reflux, High anterior hairline, Abnormality of the kidney... |
DECIPHER:81 |
Witteveen-Kolk Syndrome |
|
High anterior hairline, Medial flaring of the eyebrow, Decreased response to growth hormone stimu... |
OMIM:613406 |
Renpenning Syndrome 1 |
|
Spasticity, Sparse lateral eyebrow, Joint contracture of the hand, Short stature, Decreased testi... |
OMIM:309500 |
Pruritic Urticarial Papules And Plaques Of Pregnancy |
|
Parakeratosis, Increased body weight |
ORPHA:64745 |
Visceral Myopathy 1 |
|
Vesicoureteral reflux, Urinary retention, Megacystis, Pancreatitis, Hydronephrosis |
OMIM:155310 |
Ectodermal Dysplasia-Skin Fragility Syndrome |
|
Hypohidrosis, Short stature, Urethral stricture, Alopecia universalis, Failure to thrive, Sparse ... |
ORPHA:158668 |
Cerebrofaciothoracic Dysplasia |
|
Short stature, Synophrys, Abnormal hair pattern, Coarse hair, Low posterior hairline, Thick eyebrow |
ORPHA:1394 |
Palmoplantar Keratoderma, Punctate Type Ia |
|
Punctate palmoplantar hyperkeratosis, Hypergranulosis, Orthokeratosis |
OMIM:148600 |
Otopalatodigital Syndrome, Type Ii |
|
Short stature, Widow's peak, Elbow contracture, Hypospadias, Stillbirth, Cryptorchidism, Postnata... |
OMIM:304120 |
Chondrodysplasia Punctata, Autosomal Dominant |
|
Knee flexion contracture, Hip contracture, Moderate postnatal growth retardation, Coarse hair, Sp... |
OMIM:118650 |
Monosomy 22Q13.3 |
|
Vesicoureteral reflux, Hypohidrosis, Hypoplastic toenails, Renal dysplasia, Long eyelashes, Thick... |
ORPHA:48652 |
Rodrigues Blindness |
|
Fine hair, Sparse hair, Short stature |
OMIM:268320 |
Pili Torti, Early-Onset |
|
Dry hair, Pili torti, Brittle hair, Coarse hair, Hair shafts flattened at irregular intervals and... |
OMIM:261900 |
Vater/Vacterl Association |
|
Patent ductus arteriosus, Vesicoureteral reflux, Renal dysplasia, Renal agenesis, Patent urachus,... |
OMIM:192350 |
Warburg-Cinotti Syndrome |
|
Wrist flexion contracture, Sterile abscess, Elbow flexion contracture, Flexion contracture of fin... |
OMIM:618175 |
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies |
|
Urethral atresia, Absent external genitalia, Aplasia of the uterus, Aplasia of the vagina, Hydron... |
OMIM:271520 |
Short Rib-Polydactyly Syndrome, Verma-Naumoff Type |
|
Ambiguous genitalia, Uterus didelphys, Urethrovaginal fistula, Hypoplasia of penis, Renal cyst, D... |
ORPHA:93271 |
Cranioectodermal Dysplasia 1 |
|
Tubulointerstitial nephritis, Hepatic fibrosis, Rhizomelia, Stage 1 chronic kidney disease, Stage... |
OMIM:218330 |
Tylosis With Esophageal Cancer |
|
Parakeratosis, Diffuse palmoplantar hyperkeratosis, Follicular hyperkeratosis |
OMIM:148500 |
Microphthalmia, Syndromic 6 |
|
Microphthalmia, Anophthalmia |
OMIM:607932 |
Rare Cutaneous Lupus Erythematosus |
|
Leukonychia, Nail bed telangiectasia, Nail bed hemorrhage, Abnormality of complement system, Scar... |
ORPHA:535 |
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 2 |
|
Patent ductus arteriosus, Bladder diverticulum, Type 1 muscle fiber predominance, Myopathy, Skele... |
OMIM:614557 |
Restrictive Dermopathy 1 |
|
Patent ductus arteriosus, Sparse eyebrow, Flexion contracture, Aplasia/Hypoplasia of the eyebrow,... |
OMIM:275210 |
Epidermal Nevus Syndrome |
|
Progressive spastic paraparesis, Weakness of long finger extensor muscles, Polycystic kidney dysp... |
ORPHA:35125 |
Hypotrichosis 12 |
|
Dry hair, Aplasia/Hypoplasia of the eyebrow, Sparse hair, Sparse or absent eyelashes, Slow-growin... |
OMIM:615885 |
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 3 |
|
Hydroureter, Megacystis, Neonatal death, Fetal megacystis, Hydronephrosis |
OMIM:619362 |
Sabinas Brittle Hair Syndrome |
|
Dry hair, Brittle hair, Nail dysplasia, Sparse hair, Nail dystrophy |
OMIM:211390 |
Singleton-Merten Syndrome 2 |
|
Hyperkeratosis, Short stature |
OMIM:616298 |
Hypercarotenemia And Vitamin A Deficiency, Autosomal Recessive |
|
Follicular hyperkeratosis |
OMIM:277350 |
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 5 |
|
Hydroureter, Portal hypertension, Hydronephrosis, Megacystis |
OMIM:619431 |
Seborrhea-Like Dermatitis With Psoriasiform Elements |
|
Hyperkeratosis |
OMIM:610227 |
Peeling Skin Syndrome 6 |
|
Parakeratosis, Orthokeratosis |
OMIM:618084 |
Reactive Arthritis |
|
Weight loss, Recurrent urinary tract infections, Abnormality of the nail, Hyperkeratosis, Dystrop... |
ORPHA:29207 |
Familial Benign Chronic Pemphigus |
|
Acantholysis, Hyperkeratosis |
ORPHA:2841 |
Eales Disease |
|
Spastic paraparesis |
ORPHA:40923 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 8 |
|
Woolly hair |
OMIM:607450 |
Uncombable Hair Syndrome 1 |
|
Dry hair, Pili canaliculi, Uncombable hair |
OMIM:191480 |
Biotinidase Deficiency |
|
Alopecia, Ataxia, Organic aciduria, Spastic paraparesis, Limb muscle weakness |
ORPHA:79241 |
Porokeratosis |
|
Hyperkeratosis |
ORPHA:79358 |
Fatty Acid Hydroxylase-Associated Neurodegeneration |
|
Progressive spastic paraplegia, Progressive spastic paraparesis, Progressive gait ataxia, Upper m... |
ORPHA:329308 |
Craniolenticulosutural Dysplasia |
|
Brittle hair, Sparse hair, Short stature, Coarse hair |
ORPHA:50814 |
Kyphoscoliotic Ehlers-Danlos Syndrome |
|
Short stature, Synophrys, Bladder diverticulum, Myopathy, Skeletal muscle atrophy, Follicular hyp... |
ORPHA:536545 |
Branchial Myoclonus With Spastic Paraparesis And Cerebellar Ataxia |
|
Truncal ataxia, Palatal tremor, Spastic paraparesis |
OMIM:113610 |
Ramon Syndrome |
|
Decreased body weight, Short stature, Enlarged labia minora, Hyperkeratosis, Hypertrichosis |
OMIM:266270 |
Atresia Of Urethra |
|
Vesicoureteral reflux, Recurrent urinary tract infections, Renal dysplasia, Hydroureter, Bladder ... |
ORPHA:105 |
Autosomal Recessive Faciodigitogenital Syndrome |
|
Dry hair, Short stature, Shawl scrotum, Widow's peak, Hypopigmentation of hair, Coarse hair |
ORPHA:1974 |
Pachyonychia Congenita 3 |
|
Hyperhidrosis, Plantar hyperkeratosis, Onychogryposis of toenails, Palmar hyperkeratosis, Palmopl... |
OMIM:615726 |
Craniofacial Microsomia |
|
Microphthalmia, Occipital encephalocele, Branchial anomaly, Anophthalmia |
OMIM:164210 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 10 |
|
Woolly hair |
OMIM:610193 |
Vascular Ehlers-Danlos Syndrome |
|
Alopecia, Aplasia/Hypoplasia of the abdominal wall musculature, Aplasia/Hypoplasia of the eyebrow... |
ORPHA:286 |
Hypoplasminogenemia |
|
Abnormal fallopian tube morphology, Abnormality of the ovary, Nephrolithiasis, Cervicitis |
ORPHA:722 |
Mesomelia-Synostoses Syndrome |
|
Mesomelic short stature, Hydronephrosis |
OMIM:600383 |
Occipital Horn Syndrome |
|
Recurrent urinary tract infections, Hepatitis, Jaundice, Bladder diverticulum, Cholestasis, Coars... |
ORPHA:198 |
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 1 |
|
Bladder diverticulum, Follicular hyperkeratosis, Decreased urinary lysyl-pyridinoline-hydroxylysy... |
OMIM:225400 |
Microphthalmia, Syndromic 1 |
|
Microphthalmia, Anophthalmia |
OMIM:309800 |
Epidermolysis Bullosa, Junctional 7, With Interstitial Lung Disease And Nephrotic Syndrome |
|
Renal tubular atrophy, Sparse eyebrow, Sparse scalp hair, Nephrotic syndrome, Fine hair, Onycholy... |
OMIM:614748 |
Coffin-Lowry Syndrome |
|
Decreased body weight, Short stature, Hyperconvex fingernails, Coarse hair, Uterine prolapse, Thi... |
OMIM:303600 |
Osteogenesis Imperfecta, Type Vii |
|
Rhizomelia, Short stature, Hydronephrosis |
OMIM:610682 |
Cardiac Valvular Dysplasia 1 |
|
Hydroureter, Urethral diverticulum, Hydronephrosis |
OMIM:212093 |
Kanzaki Disease |
|
Aminoaciduria, Hyperkeratosis, Increased urinary O-linked sialopeptides |
OMIM:609242 |
Neuroocular Syndrome |
|
Small nail, Short stature, Brittle hair, Distichiasis, Synophrys, Long eyelashes, Scapular wingin... |
OMIM:619539 |
Alpha-N-Acetylgalactosaminidase Deficiency Type 2 |
|
Hyperkeratosis |
ORPHA:79280 |