| Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency |
|
Agammaglobulinemia, Lymphopenia, Hypoplasia of the thymus |
OMIM:200900 |
| Immunodeficiency 24 |
|
Lymphopenia, Decreased CD4:CD8 ratio, Decreased circulating IgG2 level, Reduced proportion of muc... |
OMIM:615897 |
| Reticular Dysgenesis |
|
Congenital agranulocytosis, Impaired T cell function, Lack of T cell function, Leukopenia, Hypopl... |
OMIM:267500 |
| Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome |
|
Failure to thrive in infancy, Small for gestational age, Decreased proportion of CD8-positive T c... |
OMIM:617241 |
| Immunodeficiency 18 |
|
Decreased proportion of CD3-positive T cells, Defective T cell proliferation, Lymphopenia |
OMIM:615615 |
| Severe Combined Immunodeficiency, X-Linked |
|
Impaired lymphocyte transformation with phytohemagglutinin, Hepatomegaly, Decreased circulating I... |
OMIM:300400 |
| Immunodeficiency 48 |
|
Hepatomegaly, Absence of CD8-positive T cells, Splenomegaly, Failure to thrive, Panhypogammaglobu... |
OMIM:269840 |
| Severe Combined Immunodeficiency Due To Foxn1 Deficiency |
|
Ridged nail, T lymphocytopenia, Nail pits, Congenital alopecia totalis |
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 CD4-positive helper T cells, Decreased proportion of CD8-positive T cells... |
OMIM:312863 |
| Immunodeficiency 15A |
|
Decreased proportion of CD4-positive helper T cells, Decreased proportion of CD8-positive T cells... |
OMIM:618204 |
| Immunodeficiency 64 With Lymphoproliferation |
|
Increased proportion autoreactive unresponsive CD21-/low B cells, Decreased proportion of CD4-pos... |
OMIM:618534 |
| Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant |
|
Splenomegaly, Decreased proportion of class-switched memory B cells, Lymphadenopathy, T lymphocyt... |
OMIM:615513 |
| T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency |
|
Failure to thrive, Alopecia, Eosinophilia, Autoimmune thrombocytopenia, Increased circulating IgA... |
ORPHA:169154 |
| Wiskott-Aldrich Syndrome 2 |
|
Decreased proportion of CD8-positive T cells, Defective T cell proliferation, Thrombocytopenia, R... |
OMIM:614493 |
| Immunodeficiency 95 |
|
Lymphopenia, Decreased circulating IgG3 level, Increased circulating IgG3 level |
OMIM:619773 |
| Immunodeficiency, Ovarian Dysgenesis, And Pulmonary Fibrosis |
|
Abnormality of the tonsils, Decreased proportion of CD8-positive T cells, Decreased circulating t... |
OMIM:611926 |
| Immunodeficiency 72 With Autoinflammation And Lymphoproliferation |
|
Increased circulating IgE level, Hepatosplenomegaly, Increased proportion of memory T cells, Lymp... |
OMIM:618982 |
| Immunodeficiency 105 |
|
Impaired lymphocyte transformation with phytohemagglutinin, Decreased circulating IgG level, Panc... |
OMIM:619924 |
| Microphthalmia, Isolated 1 |
|
Microphthalmia, Anophthalmia |
OMIM:251600 |
| Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency |
|
Failure to thrive, Absence of lymph node germinal center, Increased circulating IgE level, Lack o... |
ORPHA:277 |
| Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia |
|
Failure to thrive in infancy, Cervical lymphadenopathy, Decreased circulating total IgM, B lympho... |
OMIM:618987 |
| Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome |
|
T lymphocytopenia, Hepatomegaly, Portal hypertension, Paraplegia, Hepatosplenomegaly, Urinary ret... |
ORPHA:79124 |
| Cernunnos-Xlf Deficiency |
|
Decreased circulating antibody level, Anemia, T lymphocytopenia, Growth delay, B lymphocytopenia,... |
ORPHA:169079 |
| Combined Cellular And Humoral Immune Defects With Granulomas |
|
T lymphocytopenia, Decreased circulating IgG level, B lymphocytopenia |
OMIM:233650 |
| Hypohidrotic Ectodermal Dysplasia With Immunodeficiency |
|
Decreased circulating IgG level, Absent peripheral lymph nodes in presence of infection, Abnormal... |
ORPHA:98813 |
| Immunodeficiency 97 With Autoinflammation |
|
Decreased proportion of CD8-positive, alpha-beta TEMRA T cells, Decreased circulating IgG level, ... |
OMIM:619802 |
| Immunodeficiency 63 With Lymphoproliferation And Autoimmunity |
|
Hepatomegaly, Autoimmune hemolytic anemia, Failure to thrive, Recurrent urinary tract infections,... |
OMIM:618495 |
| Immunodeficiency 80 With Or Without Congenital Cardiomyopathy |
|
Impaired lymphocyte transformation with phytohemagglutinin, Decreased lymphocyte proliferation in... |
OMIM:619313 |
| Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells |
|
Pancytopenia, Decreased helper T cell proportion, Hypersplenism, Splenomegaly, Cutaneous anergy |
OMIM:183350 |
| Immunodeficiency 104 |
|
Hepatomegaly, Splenomegaly, Lymphadenopathy, T lymphocytopenia, Failure to thrive secondary to re... |
OMIM:608971 |
| Ataxia-Telangiectasia |
|
Tremor, Choreoathetosis, T lymphocytopenia, Hypoplasia of the thymus, Decreased circulating IgG l... |
OMIM:208900 |
| Caspase 8 Deficiency |
|
Failure to thrive, Complete or near-complete absence of specific antibody response to unconjugate... |
OMIM:607271 |
| Lipedema |
|
Edema |
OMIM:614103 |
| Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia |
|
Decreased proportion of CD4-positive T cells, Autoimmune thrombocytopenia, Mediastinal lymphadeno... |
OMIM:300853 |
| Mu-Heavy Chain Disease |
|
Hepatomegaly, Abnormal B cell count, Bence Jones Proteinuria, Splenomegaly, Lymphadenopathy, Weig... |
ORPHA:100024 |
| Autoimmune Lymphoproliferative Syndrome |
|
Hepatomegaly, Autoimmune hemolytic anemia, Chronic noninfectious lymphadenopathy, Eosinophilia, A... |
OMIM:601859 |
| Immunodeficiency 76 |
|
Splenomegaly, Lymphadenopathy, Growth delay, T lymphocytopenia, B lymphocytopenia, Lymphopenia |
OMIM:619164 |
| Immunodeficiency 109 With Lymphoproliferation |
|
Pancytopenia, Generalized lymphadenopathy, Decreased lymphocyte proliferation in response to anti... |
OMIM:620282 |
| Agammaglobulinemia 8B, Autosomal Recessive |
|
Decreased circulating IgG level, Pancytopenia, Splenomegaly, Decreased proportion of CD8-positive... |
OMIM:619824 |
| Vitamin B12-Unresponsive Methylmalonic Acidemia |
|
Hepatomegaly, Macrocytic anemia, Renal insufficiency, Ataxia, Paraparesis, Anemia, Leukopenia, Ch... |
ORPHA:27 |
| Agammaglobulinemia 3, Autosomal Recessive |
|
Abnormal T cell morphology, Agammaglobulinemia, Absent isohemagglutinin level, Absent circulating... |
OMIM:613501 |
| Griscelli Syndrome, Type 2 |
|
Silver-gray hair, Hepatosplenomegaly, Hemophagocytosis, Reduced delayed hypersensitivity, Spastic... |
OMIM:607624 |
| T-Cell Immunodeficiency, Congenital Alopecia, And Nail Dystrophy |
|
Ridged nail, Alopecia, Decreased helper T cell proportion, Nail pits, T lymphocytopenia, Nail dys... |
OMIM:601705 |
| Proteasome-Associated Autoinflammatory Syndrome 2 |
|
Increased CD4:CD8 ratio, Increased circulating IgA level, Abnormal circulating IgM level, Lymphad... |
OMIM:618048 |
| Autoimmune Lymphoproliferative Syndrome, Type Iia |
|
Iron deficiency anemia, Increased circulating IgG level, Increased B cell count, Decreased lympho... |
OMIM:603909 |
| Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive |
|
T lymphocytopenia, B lymphocytopenia, Failure to thrive secondary to recurrent infections, Failur... |
OMIM:601457 |
| Immunodeficiency 19 |
|
T lymphocytopenia, Failure to thrive, Abnormal B cell morphology, Abnormal natural killer cell mo... |
OMIM:615617 |
| Immunodeficiency 62 |
|
Autoimmune thrombocytopenia, Decreased circulating total IgM, Increased proportion of transitiona... |
OMIM:618459 |
| Immunodeficiency 78 With Autoimmunity And Developmental Delay |
|
Autoimmune hemolytic anemia, Fluctuating splenomegaly, Autoimmune thrombocytopenia, Neutropenia i... |
OMIM:619220 |
| Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation |
|
Hepatomegaly, Failure to thrive, Generalized lymphadenopathy, Aplasia of the thymus, Eosinophilia... |
OMIM:602450 |
| Histiocytosis, Familial Lipochrome |
|
Increased circulating antibody level, Histiocytosis |
OMIM:235900 |
| Omenn Syndrome |
|
Hepatomegaly, Alopecia, Severe B lymphocytopenia, Eosinophilia, Splenomegaly, Thrombocytopenia, T... |
OMIM:603554 |
| Immunodeficiency 8 With Lymphoproliferation |
|
Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc... |
OMIM:615401 |
| Microphthalmia, Isolated, With Coloboma 10 |
|
Microphthalmia, Anophthalmia |
OMIM:616428 |
| Immunodeficiency 103, Susceptibility To Fungal Infections |
|
Abnormal B cell count, Increased circulating IgE level, Hypereosinophilia, Lymphadenopathy, Abnor... |
OMIM:212050 |
| Combined Immunodeficiency Due To Zap70 Deficiency |
|
Autoimmune hemolytic anemia, Eosinophilia, Autoimmune thrombocytopenia, Absence of CD8-positive T... |
ORPHA:911 |
| Immunodeficiency 102 |
|
Decreased circulating IgG level, Hepatomegaly, Increased circulating interleukin 6 concentration,... |
OMIM:301082 |
| Agammaglobulinemia 8A, Autosomal Dominant |
|
Agammaglobulinemia, B lymphocytopenia |
OMIM:616941 |
| Microphthalmia, Isolated, With Coloboma 5 |
|
Microphthalmia, Anophthalmia, Bilateral microphthalmos |
OMIM:611638 |
| T-Cell Lymphopenia, Infantile, With Or Without Nail Dystrophy, Autosomal Dominant |
|
T lymphocytopenia, Nail dystrophy, Abnormally low T cell receptor excision circle level |
OMIM:618806 |
| Immunodeficiency Due To Selective Anti-Polysaccharide Antibody Deficiency |
|
Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc... |
ORPHA:70593 |
| Smith-Kingsmore Syndrome |
|
Curly hair, Rhizomelia, Diastasis recti, Large for gestational age, Cryptorchidism, Thrombocytope... |
OMIM:616638 |
| Autoimmune Lymphoproliferative Syndrome, Type Iii |
|
Increased proportion autoreactive unresponsive CD21-/low B cells, Generalized lymphadenopathy, In... |
OMIM:615559 |
| Cd8 Deficiency, Familial |
|
Absence of CD8-positive T cells |
OMIM:608957 |
| Immunodeficiency 85 And Autoimmunity |
|
Decreased circulating IgG level, Failure to thrive in infancy, Growth delay, T lymphocytopenia, D... |
OMIM:619510 |
| T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency |
|
Decreased circulating IgG level, Lymphopenia, Hepatomegaly, Decreased proportion of naive T cells... |
ORPHA:276 |
| Immunodeficiency, Common Variable, 1 |
|
Hepatomegaly, Impaired T cell function, Splenomegaly, Neutropenia in presence of anti-neutropil a... |
OMIM:607594 |
| Activated Pi3K-Delta Syndrome |
|
Hepatomegaly, Splenomegaly, Recurrent tonsillitis, Lymphadenopathy, Decreased circulating antibod... |
ORPHA:397596 |
| Agammaglobulinemia 2, Autosomal Recessive |
|
Abnormal T cell morphology, Agammaglobulinemia, Decreased circulating total IgM, Absent circulati... |
OMIM:613500 |
| Agammaglobulinemia 10, Autosomal Dominant |
|
Transient neutropenia, Agammaglobulinemia, Decreased circulating total IgM, Absent circulating B ... |
OMIM:619707 |
| Immunodeficiency 57 With Autoinflammation |
|
Perianal abscess, Decreased circulating antibody level, T lymphocytopenia, B lymphocytopenia, Par... |
OMIM:618108 |
| Immunodeficiency 70 |
|
Decreased circulating total IgG, Decreased circulating antibody level, Decreased circulating tota... |
OMIM:618969 |
| Immunodeficiency 84 |
|
Perianal abscess, Splenomegaly, B lymphocytopenia |
OMIM:619437 |
| Immunodeficiency 17 |
|
Autoimmune hemolytic anemia, Decreased proportion of CD8-positive T cells, Chronic decreased ciru... |
OMIM:615607 |
| Immunodeficiency 25 |
|
Autoimmune hemolytic anemia, Eosinophilia, Increased circulating IgA level, Increased circulating... |
OMIM:610163 |
| Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis |
|
Autoimmune hemolytic anemia, Glomerulonephritis, Plasmacytosis, Increased circulating antibody le... |
OMIM:247800 |
| Immunodeficiency 27A |
|
Splenomegaly, Leukocytosis, Lymphadenopathy, Hepatosplenomegaly, Enlarged mesenteric lymph node, ... |
OMIM:209950 |
| Immunodeficiency 52 |
|
Decreased proportion of CD4-positive T cells, Failure to thrive, Autoimmune thrombocytopenia, Spl... |
OMIM:617514 |
| T-Cell Immunodeficiency With Thymic Aplasia |
|
Failure to thrive, Aplasia of the thymus, Hepatosplenomegaly, T lymphocytopenia, Abnormally low T... |
OMIM:242700 |
| Immunodeficiency, Common Variable, 11 |
|
Failure to thrive, Increased circulating IgE level, Decreased proportion of class-switched memory... |
OMIM:615767 |
| Immunodeficiency 36 With Lymphoproliferation |
|
Decreased circulating IgG level, Short stature, Splenomegaly, Enlarged tonsils, Chronic lymphatic... |
OMIM:616005 |
| Agammaglobulinemia 6, Autosomal Recessive |
|
Abnormal T cell morphology, Agammaglobulinemia, Decreased circulating total IgM, B lymphocytopeni... |
OMIM:612692 |
| Syndromic Diarrhea |
|
Brittle hair, Abnormality of the liver, Hypoplasia of the thymus, Hepatic fibrosis, Hepatoblastom... |
ORPHA:84064 |
| Immunodeficiency 41 With Lymphoproliferation And Autoimmunity |
|
Hemolytic anemia, Autoimmune hemolytic anemia, Decreased proportion of CD4+CD25+ regulatory T cel... |
OMIM:606367 |
| Immunoerythromyeloid Hypoplasia |
|
Erythroid hypoplasia, Decreased circulating IgG level |
OMIM:242880 |
| Immunodeficiency, Common Variable, 6 |
|
Hepatomegaly, Decreased specific pneumococcal antibody level, Glomerulonephritis, Autoimmune thro... |
OMIM:613496 |
| Immunodeficiency 44 |
|
Decreased circulating total IgM, Lymphopenia, Decreased circulating IgA level, Abnormal circulati... |
OMIM:616636 |
| Immunodeficiency 50 |
|
Decreased circulating antibody level, Recurrent urinary tract infections, Lymphopenia, Neutropenia |
OMIM:300988 |
| Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia |
|
Decreased circulating IgG level, Abnormally low T cell receptor excision circle level, Pancytopen... |
OMIM:618986 |
| Immunodeficiency 99 With Hypogammaglobulinemia And Autoimmune Cytopenias |
|
Absent specific antibody response, Decreased proportion of CD4+CD25+ regulatory T cells, Follicul... |
OMIM:619846 |
| Gastrointestinal Defects And Immunodeficiency Syndrome 1 |
|
Impaired lymphocyte transformation with phytohemagglutinin, Autoimmune hemolytic anemia, Leukocyt... |
OMIM:243150 |
| Immunodeficiency 14B, Autosomal Recessive |
|
Neutrophilia, Reduced natural killer cell activity, Leukocytosis, Monocytosis, Decreased circulat... |
OMIM:619281 |
| Neutropenia, Severe Congenital, 5, Autosomal Recessive |
|
Hepatomegaly, Extramedullary hematopoiesis, Splenomegaly, Thrombocytopenia, Leukopenia, Increased... |
OMIM:615285 |
| Noonan Syndrome 14 |
|
Curly hair, Scapular winging, Short stature, Sparse eyebrow, Cryptorchidism, Hyperhidrosis, Low p... |
OMIM:619745 |
| B-Cell Expansion With Nfkb And T-Cell Anergy |
|
Decreased specific antibody response to polysaccharide vaccine, Splenomegaly, Decreased circulati... |
OMIM:616452 |
| Hyper-Ige Syndrome 5, Autosomal Recessive, With Recurrent Infections |
|
Increased circulating interleukin 6 concentration, Increased circulating IgE level, Decreased pro... |
OMIM:618944 |
| Lymphoma, Hodgkin, Classic |
|
Impaired lymphocyte transformation with phytohemagglutinin, Polyclonal elevation of IgM |
OMIM:236000 |
| Trichothiodystrophy 3, Photosensitive |
|
Lymphopenia, Brittle hair, Short stature, Increased circulating IgA level, Bilateral cryptorchidi... |
OMIM:616395 |
| Combined Immunodeficiency Due To Dock8 Deficiency |
|
T lymphocytopenia, Increased circulating IgE level, B lymphocytopenia |
ORPHA:217390 |
| Fryns Microphthalmia Syndrome |
|
Microphthalmia, Anophthalmia, Neural tube defect |
OMIM:600776 |
| Braddock-Carey Syndrome 1 |
|
Curly hair, Multicystic kidney dysplasia, Spastic diplegia, Growth delay, Camptodactyly, Sparse h... |
OMIM:619980 |
| Immunodeficiency, Common Variable, 13 |
|
Acute lymphoblastic leukemia, Pancytopenia, B lymphocytopenia, Decreased circulating antibody level |
OMIM:616873 |
| Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia |
|
Decreased circulating IgG level, Hepatomegaly, Recurrent urinary tract infections, Short stature,... |
OMIM:620210 |
| Hyper-Ige Syndrome 2, Autosomal Recessive, With Recurrent Infections |
|
Eosinophilia, Increased circulating IgE level, Growth delay, Increased circulating IgG level, Dec... |
OMIM:243700 |
| Noonan Syndrome 6 |
|
Juvenile myelomonocytic leukemia, Curly hair, Short stature, Long eyebrows, Cryptorchidism, Low p... |
OMIM:613224 |
| Progressive Multifocal Leukoencephalopathy |
|
Weakness due to upper motor neuron dysfunction, Parkinsonism, Decreased proportion of CD8-positiv... |
ORPHA:217260 |
| Leukodystrophy, Hypomyelinating, 24 |
|
Severe short stature, Flexion contracture, B lymphocytopenia, Tongue fasciculations, Hypothyroidism |
OMIM:619851 |
| Ataxia-Telangiectasia |
|
Lymphopenia, Skeletal muscle atrophy, Diabetes mellitus, Ataxia, Short stature, Abnormal testis m... |
ORPHA:100 |
| Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency |
|
Diffuse mesangial sclerosis, Hepatomegaly, Autoimmune hemolytic anemia, Severe B lymphocytopenia,... |
OMIM:102700 |
| Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2 |
|
Decreased circulating antibody level, Growth delay, Decreased circulating total IgM, B lymphocyto... |
OMIM:614069 |
| Neutropenia, Chronic Familial |
|
Increased circulating antibody level, Neutropenia |
OMIM:162700 |
| Transcobalamin Deficiency |
|
Decreased circulating IgG level, Pancytopenia, Methylmalonic aciduria, Decreased circulating anti... |
ORPHA:859 |
| Sting-Associated Vasculopathy, Infantile-Onset |
|
Nailfold capillary tortuosity, Skeletal muscle atrophy, Failure to thrive, Myositis, Follicular h... |
OMIM:615934 |
| Autoimmune Disease, Multisystem, Infantile-Onset, 2 |
|
Impaired lymphocyte transformation with phytohemagglutinin, Increased CD4:CD8 ratio, Proteinuria,... |
OMIM:617006 |
| Trichohepatoenteric Syndrome 1 |
|
Brittle hair, Hepatic fibrosis, Sparse hair, Intrauterine growth retardation, Hepatomegaly, Hypos... |
OMIM:222470 |
| Selective Igm Deficiency |
|
Decreased proportion of CD4-positive T cells, Recurrent urinary tract infections, Hashimoto thyro... |
ORPHA:331235 |
| Microphthalmia, Syndromic 16 |
|
Microphthalmia, Anophthalmia |
OMIM:611038 |
| Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency |
|
Decreased circulating IgG level, Hepatomegaly, Abnormal B cell count, Abnormal T cell count, Auto... |
ORPHA:331206 |
| Neutropenia, Severe Congenital, 4, Autosomal Recessive |
|
Leukopenia, Hypoplasia of the thymus, Neutropenia, Hepatomegaly, Perianal abscess, Cryptorchidism... |
OMIM:612541 |
| 22q11 deletion syndrome (Velocardiofacial / DiGeorge syndrome) |
|
T lymphocytopenia |
DECIPHER:16 |
| Pgm3-Cdg |
|
Abnormal CD4:CD8 ratio, Leukopenia, T lymphocytopenia, Increased circulating IgG level, Neutropen... |
ORPHA:443811 |
| Lymphangiectasia, Intestinal |
|
Lymphopenia, Abnormal hair morphology, Stillbirth, Intestinal lymphangiectasia, Decreased circula... |
OMIM:152800 |
| Classic Mycosis Fungoides |
|
Hepatomegaly, Alopecia, Splenomegaly, Lymphadenopathy, Hyperkeratosis, Abnormal lymphocyte morpho... |
ORPHA:2584 |
| Immunodeficiency By Defective Expression Of Mhc Class Ii |
|
Pancytopenia, Autoimmune hemolytic anemia, Chronic hepatitis due to cryptosporidium infection, Au... |
ORPHA:572 |
| Autoinflammation With Arthritis And Dyskeratosis |
|
Hepatomegaly, Autoimmune hemolytic anemia, Increased circulating IgA level, Splenomegaly, Hypereo... |
OMIM:617388 |
| T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency |
|
Impaired lymphocyte transformation with phytohemagglutinin, Decreased circulating IgG level, Abse... |
ORPHA:35078 |
| Subacute Inflammatory Demyelinating Polyneuropathy |
|
Tremor, Leukocytosis, Choreoathetosis, Increased circulating IgG level, Abnormality of the calf m... |
ORPHA:206594 |
| Noonan Syndrome 4 |
|
Ureteral duplication, Curly hair, Short stature, Large for gestational age, Sparse eyebrow, Crypt... |
OMIM:610733 |
| Immunodeficiency 42 |
|
Splenomegaly, Hypoplasia of the thymus, Hepatomegaly |
OMIM:616622 |
| Boutonneuse Fever |
|
Renal insufficiency, Cervical lymphadenopathy, Lymphadenopathy, Leukopenia, Increased circulating... |
ORPHA:83313 |
| Ras-Associated Autoimmune Leukoproliferative Disorder |
|
Hemolytic anemia, Pancytopenia, Hepatomegaly, Follicular hyperplasia, Autoimmune thrombocytopenia... |
OMIM:614470 |
| Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative |
|
Impaired lymphocyte transformation with phytohemagglutinin, Absent natural killer cells, Failure ... |
OMIM:600802 |
| Purine Nucleoside Phosphorylase Deficiency |
|
Autoimmune hemolytic anemia, Failure to thrive, Recurrent urinary tract infections, Impaired T ce... |
OMIM:613179 |
| Macroglobulinemia, Waldenstrom, Susceptibility To, 1 |
|
Impaired lymphocyte transformation with phytohemagglutinin, Monoclonal immunoglobulin M proteinem... |
OMIM:153600 |
| Immunodeficiency 13 |
|
Lymphopenia, T lymphocytopenia, B lymphocytopenia, Decreased proportion of CD4-positive helper T ... |
OMIM:615518 |
| Neurodevelopmental Disorder With Facial Dysmorphism, Absent Language, And Pseudo-Pelger-Huet Anomaly |
|
Curly hair, Sparse eyebrow, Hyposegmentation of neutrophil nuclei, Synophrys, Sparse hair |
OMIM:620075 |
| Persistent Polyclonal B-Cell Lymphocytosis |
|
Splenomegaly, Decreased circulating total IgM, Lymphocytosis, Hepatomegaly |
OMIM:606445 |
| Macrocephaly/Autism Syndrome |
|
Speech apraxia, Hepatomegaly, Penile freckling, Large for gestational age, Splenomegaly, Obesity,... |
OMIM:605309 |
| Immunodeficiency With Hyper-Igm, Type 3 |
|
Impaired Ig class switch recombination, Absence of lymph node germinal center, Impaired memory B ... |
OMIM:606843 |
| Immunodeficiency, Common Variable, 3 |
|
Decreased proportion of class-switched memory B cells, Decreased circulating total IgM, Reduced i... |
OMIM:613493 |
| Immunodeficiency 11A |
|
Decreased proportion of CD4+CD25+ regulatory T cells, Decreased circulating antibody level, Agamm... |
OMIM:615206 |
| Autoimmune Lymphoproliferative Syndrome |
|
Increased circulating IgG level, Thyroid carcinoma, Lymphocytosis, Increased B cell count, Decrea... |
ORPHA:3261 |
| Hepatic Venoocclusive Disease With Immunodeficiency |
|
Abnormality of the liver, Decreased circulating IgG level, Absence of lymph node germinal center |
OMIM:235550 |
| Igg4-Related Pachymeningitis |
|
Eosinophilia, Increased circulating IgG4 level, Lower limb muscle weakness, Lymphadenitis, Parapa... |
ORPHA:449427 |
| Immunodeficiency 98 With Autoinflammation, X-Linked |
|
Hepatomegaly, Autoimmune hemolytic anemia, Splenomegaly, Lymphadenopathy, Growth delay, B lymphoc... |
OMIM:301078 |
| Onychotrichodysplasia And Neutropenia |
|
Curly hair, Chronic neutropenia, Curly eyelashes, Concave nail, Sparse pubic hair, Lymphocytosis,... |
OMIM:258360 |
| Immunodeficiency 93 And Hypertrophic Cardiomyopathy |
|
Decreased proportion of class-switched memory B cells, Agammaglobulinemia, Decreased circulating ... |
OMIM:619705 |
| Agammaglobulinemia 4, Autosomal Recessive |
|
Abnormal T cell morphology, Agammaglobulinemia, Decreased circulating total IgM, Neutropenia, Dec... |
OMIM:613502 |
| Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay |
|
Sideroblastic anemia, Brittle hair, Ataxia, Splenomegaly, Schistocytosis, Hypochromic microcytic ... |
OMIM:616084 |
| Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1 |
|
Short stature, T lymphocytopenia, Increased circulating IgM level, Macroglossia, Failure to thriv... |
OMIM:242860 |
| Obesity Due To Congenital Leptin Deficiency |
|
Decreased serum testosterone concentration, Hypergonadotropic hypogonadism, Decreased serum lepti... |
ORPHA:66628 |
| Roifman Syndrome |
|
Hip contracture, Hypogonadotropic hypogonadism, Eosinophilia, Short stature, Hyperconvex nail, Po... |
ORPHA:353298 |
| Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome |
|
Decreased circulating IgG level, Hepatomegaly, Decreased proportion of CD8-positive T cells, Incr... |
ORPHA:508533 |
| Immunodeficiency 26 With Or Without Neurologic Abnormalities |
|
T lymphocytopenia, B lymphocytopenia, Intrauterine growth retardation, Micropenis, Abnormal natur... |
OMIM:615966 |
| Immunodeficiency 43 |
|
Decreased circulating IgG level, Lung abscess, Decreased specific antibody response to polysaccha... |
OMIM:241600 |
| Obesity Due To Leptin Receptor Gene Deficiency |
|
Decreased serum testosterone concentration, Hypergonadotropic hypogonadism, Decreased serum lepti... |
ORPHA:179494 |
| Mirage Syndrome |
|
Recurrent urinary tract infections, Hypospadias, Hypergonadotropic hypogonadism, Adrenal hypoplas... |
OMIM:617053 |
| Immunodeficiency 75 With Lymphoproliferation |
|
Hepatosplenomegaly, Decreased proportion of class-switched memory B cells, Lymphadenopathy, Folli... |
OMIM:619126 |
| T-Cell Immunodeficiency With Thymic Aplasia |
|
Recurrent urinary tract infections, Decreased proportion of naive T cells, Aplasia of the thymus,... |
ORPHA:83471 |
| Whim Syndrome 1 |
|
Abnormal morphology of female internal genitalia, Decreased circulating antibody level, Neutropen... |
OMIM:193670 |
| Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome |
|
Abscess, Abnormal CD4:CD8 ratio, Splenomegaly, Neutropenia, Lymphadenopathy, B lymphocytopenia, I... |
OMIM:150550 |
| Immunodeficiency 68 |
|
Abscess, Lymphadenitis, T lymphocytopenia, B lymphocytopenia, Abnormal natural killer cell count |
OMIM:612260 |
| Burkitt Lymphoma |
|
Abnormality of the spleen, Abnormality of the pancreas, Abnormal lymph node morphology, Abnormali... |
ORPHA:543 |
| Anencephaly 2 |
|
Anophthalmia, Anencephaly |
OMIM:619452 |
| Immunodeficiency 92 |
|
Hepatomegaly, Cholangitis, Leukocytosis, Decreased proportion of class-switched memory B cells, S... |
OMIM:619652 |
| Immunodeficiency 54 |
|
Hepatomegaly, Failure to thrive, Short stature, Postnatal growth retardation, Splenomegaly, Adren... |
OMIM:609981 |
| Immunodeficiency 23 |
|
Hemolytic anemia, Failure to thrive, Membranoproliferative glomerulonephritis, Ataxia, Eosinophil... |
OMIM:615816 |
| Copper Deficiency, Familial Benign |
|
Curly hair, Failure to thrive, Early balding, Anemia |
OMIM:121270 |
| Chops Syndrome |
|
Curly hair, Short stature, Thick hair, Splenomegaly, Cryptorchidism, Patent ductus arteriosus, Sy... |
OMIM:616368 |
| Cardiofaciocutaneous Syndrome 1 |
|
Absent eyebrow, Curly hair, Short stature, Slow-growing hair, Absent eyelashes, Splenomegaly, Hyp... |
OMIM:115150 |
| T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta |
|
Decreased circulating IgG level, Eosinophilia, Hepatitis, Hepatosplenomegaly, Increased circulati... |
ORPHA:169160 |
| Congenital Disorder Of Glycosylation, Type Iil |
|
Hepatomegaly, Pancytopenia, Impaired T cell function, Unilateral renal agenesis, Splenomegaly, Pa... |
OMIM:614576 |
| Syndromic Recessive X-Linked Ichthyosis |
|
Renal insufficiency, Short stature, Unilateral renal agenesis, Cryptorchidism, Acute leukemia, Hy... |
ORPHA:281090 |
| Noonan Syndrome 8 |
|
Curly hair, Short stature, Large for gestational age, Cryptorchidism, Patent ductus arteriosus, H... |
OMIM:615355 |
| Schimke Immunoosseous Dysplasia |
|
Bilateral cryptorchidism, Elevated circulating thyroid-stimulating hormone concentration, Abnorma... |
OMIM:242900 |
| Immunodeficiency 40 |
|
Hepatomegaly, Eosinophilic granuloma, Growth delay, T lymphocytopenia, Macrovesicular hepatic ste... |
OMIM:616433 |
| Chilblain Lupus |
|
Hyperkeratosis, Increased circulating antibody level, Chronic myelomonocytic leukemia |
ORPHA:90280 |
| Immunodeficiency 81 |
|
Decreased proportion of CD4-positive T cells, Recurrent cutaneous abscess formation, Autoimmune h... |
OMIM:619374 |
| Schimke Immuno-Osseous Dysplasia |
|
Impaired T cell function, Neutropenia, Nephropathy, Nephrotic range proteinuria, Short stature, M... |
ORPHA:1830 |
| Wiskott-Aldrich Syndrome |
|
Impaired lymphocyte transformation with phytohemagglutinin, Autoimmune hemolytic anemia, Absent m... |
OMIM:301000 |
| Lymphoproliferative Syndrome, X-Linked, 1 |
|
Hepatomegaly, Pancytopenia, Aplastic anemia, Dysgammaglobulinemia, Reduced natural killer cell ac... |
OMIM:308240 |
| Immunodeficiency 21 |
|
Aplastic anemia, B lymphocytopenia, Cervical intraepithelial neoplasia, Neutropenia, Monocytopeni... |
OMIM:614172 |
| Cardiofaciocutaneous Syndrome 4 |
|
Absent eyebrow, Curly hair, Short stature, Decreased response to growth hormone stimulation test,... |
OMIM:615280 |
| Igg4-Related Aortitis |
|
Increased circulating IgG4 level, Increased circulating IgE level, Hypereosinophilia, Weight loss... |
ORPHA:449400 |
| Combined Immunodeficiency Due To Partial Rag1 Deficiency |
|
Autoimmune hemolytic anemia, Splenomegaly, Neutropenia in presence of anti-neutropil antibodies, ... |
ORPHA:231154 |
| Meckel Syndrome, Type 8 |
|
Encephalocele, Occipital encephalocele, Anophthalmia, Pericardial effusion, Microphthalmia |
OMIM:613885 |
| Peroxisome Biogenesis Disorder 2A (Zellweger) |
|
Intrahepatic biliary dysgenesis, Hepatomegaly, Cryptorchidism, Jaundice, Joint contracture of the... |
OMIM:214110 |
| Immunodeficiency 89 And Autoimmunity |
|
Reduced circulating interleukin 17A concentration, Reduced circulating interleukin 23 concentrati... |
OMIM:619632 |
| Macrocephaly-Intellectual Disability-Neurodevelopmental Disorder-Small Thorax Syndrome |
|
Curly hair, Hypospadias, Diastasis recti, Large for gestational age, Cryptorchidism, Decreased ci... |
ORPHA:457485 |
| Immunodeficiency, Common Variable, 8, With Autoimmunity |
|
Decreased circulating IgG level, Pancytopenia, Generalized lymphadenopathy, Autoimmune hemolytic ... |
OMIM:614700 |
| Wolfram Syndrome, Mitochondrial Form |
|
Sideroblastic anemia, Hydroureter, Diabetes mellitus, Megaloblastic anemia, Neutropenia, Diabetes... |
OMIM:598500 |
| Microphthalmia, Isolated 8 |
|
Microphthalmia, Anophthalmia, Optic nerve hypoplasia, True anophthalmia |
OMIM:615113 |
| Mucopolysaccharidosis-Plus Syndrome |
|
Synophrys, Flexion contracture, Low anterior hairline, Leukopenia, Coarse hair, Macrovesicular he... |
OMIM:617303 |
| Insulin-Resistance Syndrome Type B |
|
Fasting hyperinsulinemia, Increased body weight, Leukopenia, Increased circulating IgG level, Aca... |
ORPHA:2298 |
| Lymphoproliferative Syndrome 1 |
|
Hepatomegaly, Pancytopenia, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Thrombocyto... |
OMIM:613011 |
| Immunodeficiency 60 And Autoimmunity |
|
Pancytopenia, Splenomegaly, Decreased circulating total IgM, Decreased circulating IgE, Decreased... |
OMIM:618394 |
| Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency |
|
Hepatomegaly, Glomerulonephritis, Decreased proportion of marginal zone B cells, Autoimmune throm... |
OMIM:619375 |
| Agammaglobulinemia 9, Autosomal Recessive |
|
Agammaglobulinemia, Thrombocytopenia, Failure to thrive, Absent circulating B cells |
OMIM:619693 |
| Immunodeficiency 9 |
|
Myopathy, Failure to thrive, Hypoplasia of the thymus |
OMIM:612782 |
| Microphthalmia, Syndromic 12 |
|
Microphthalmia, Anophthalmia |
OMIM:615524 |
| Immunodeficiency With Hyper-Igm, Type 1 |
|
Decreased circulating IgE, Neutropenia, Decreased circulating IgG level, Hemolytic anemia, Hepato... |
OMIM:308230 |
| Farber Disease |
|
Skeletal muscle atrophy, Intrahepatic cholestasis with episodic jaundice, Short stature, Parapare... |
ORPHA:333 |
| Autoinflammatory Disease, Systemic, X-Linked |
|
Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc... |
OMIM:301081 |
| Agammaglobulinemia, X-Linked |
|
Recurrent urinary tract infections, Hepatocellular carcinoma, Enteroviral hepatitis, Epididymitis... |
OMIM:300755 |
| Neutropenia, Severe Congenital, 2, Autosomal Dominant |
|
Monocytosis, B lymphocytopenia, Neutropenia |
OMIM:613107 |
| Congenital Disorder Of Glycosylation, Type Iir |
|
Decreased proportion of CD4-positive T cells, Hepatomegaly, Hypospadias, Jaundice, Micronodular c... |
OMIM:301045 |
| Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome |
|
Accessory spleen, Decreased circulating IgG level, Severe B lymphocytopenia, Portal hypertension,... |
OMIM:620005 |
| Rift Valley Fever |
|
Paralysis, Paraparesis, Jaundice, Hepatitis, Hematuria, Anemia, Increased circulating IgG level, ... |
ORPHA:319251 |
| Noonan Syndrome 2 |
|
Curly hair, Short stature, Sparse eyebrow, Cryptorchidism, Patent ductus arteriosus, Low posterio... |
OMIM:605275 |
| Naxos Disease |
|
Sparse scalp hair, Curly hair, Abnormality of hair texture, Hyperhidrosis, Palmoplantar keratoder... |
ORPHA:34217 |
| Trichohepatoneurodevelopmental Syndrome |
|
Hepatomegaly, Curly hair, Splenomegaly, Patent ductus arteriosus, Synophrys, Woolly hair, Macrogl... |
OMIM:618268 |
| Immunodeficiency, Common Variable, 14 |
|
Decreased proportion of class-switched memory B cells, Decreased circulating total IgM, Decreased... |
OMIM:617765 |
| Immunodeficiency 49 |
|
Impaired lymphocyte transformation with phytohemagglutinin, Eosinophilia, Spastic tetraplegia, T ... |
OMIM:617237 |
| Purine Nucleoside Phosphorylase Deficiency |
|
Autoimmune hemolytic anemia, Abnormal central motor function, Ataxia, Cerebral palsy, Autoimmune ... |
ORPHA:760 |
| Dyskeratosis Congenita, Autosomal Dominant 3 |
|
Urethral stricture, Pancytopenia, Alopecia, Aplastic anemia, Ataxia, Short stature, Cryptorchidis... |
OMIM:613990 |
| Netherton Syndrome |
|
Sparse scalp hair, Parakeratosis, Failure to thrive, Brittle hair, Brittle scalp hair, Sparse eye... |
OMIM:256500 |
| Immunodeficiency 32B |
|
Hepatomegaly, Neutrophilia, Eosinophilia, Splenomegaly, Anemia, Impaired oxidative burst, Abnorma... |
OMIM:226990 |
| Microcephalic Primordial Dwarfism, Toriello Type |
|
Severe short stature, Decreased circulating total IgM, Neutropenia, Intrauterine growth retardati... |
ORPHA:2643 |
| Immunodeficiency, Common Variable, 2 |
|
Hepatomegaly, Impaired T cell function, Follicular hyperplasia, Splenomegaly, Lymphadenopathy, De... |
OMIM:240500 |
| Immunodeficiency 96 |
|
Multicystic kidney dysplasia, Increased proportion of gamma-delta T cells, Growth delay, Decrease... |
OMIM:619774 |
| Immunodeficiency 86 |
|
Impaired oxidative burst, Decreased circulating IgG level, Increased circulating IgM level |
OMIM:619549 |
| Leishmaniasis |
|
Hepatomegaly, Pancytopenia, Abnormal macrophage morphology, Splenomegaly, Lymphadenopathy, Anemia... |
ORPHA:507 |
| Oculocerebrocutaneous Syndrome |
|
Microphthalmia, Orbital encephalocele, Anophthalmia |
OMIM:164180 |
| Autosomal Recessive Spastic Paraplegia Type 43 |
|
Ankle flexion contracture, Babinski sign, Knee flexion contracture, Poor fine motor coordination,... |
ORPHA:320370 |
| Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome |
|
Failure to thrive, Severe B lymphocytopenia, Decreased circulating cortisol level, Decreased resp... |
ORPHA:293978 |
| Gaucher Disease, Type Iii |
|
Hepatomegaly, Pancytopenia, Ataxia, Short stature, Splenomegaly, Myoclonus, Decreased body weight... |
OMIM:231000 |
| Peeling Skin Syndrome 1 |
|
Brittle hair, Short stature, Eosinophilia, Increased circulating IgE level, Onycholysis, Palmopla... |
OMIM:270300 |
| Immunodeficiency, Common Variable, 7 |
|
Recurrent urinary tract infections, Splenomegaly, Chronic (near) absent circulating IgG4, Reduced... |
OMIM:614699 |
| Vici Syndrome |
|
Decreased circulating IgG level, Failure to thrive, Hypopigmentation of hair, Left ventricular hy... |
OMIM:242840 |
| Spondyloepiphyseal Dysplasia-Brachydactyly-Speech Disorder Syndrome |
|
Curly hair, Short stature, Curly eyelashes, Cryptorchidism, Multiple rows of eyelashes, Rhizo-mes... |
ORPHA:163654 |
| Wolfram Syndrome 1 |
|
Sideroblastic anemia, Neurogenic bladder, Hydroureter, Ataxia, Diabetes mellitus, Diabetes insipi... |
OMIM:222300 |
| Cardiofaciocutaneous Syndrome 3 |
|
Curly hair, Short stature, Hyperhidrosis, Hyperkeratosis, Failure to thrive |
OMIM:615279 |
| Proteus Syndrome |
|
Lymphangioma, Splenomegaly, Hyperkeratosis |
OMIM:176920 |
| Noonan Syndrome 5 |
|
Curly hair, Short stature, Large for gestational age, Sparse eyebrow, Cryptorchidism, Fine hair, ... |
OMIM:611553 |
| Schnitzler Syndrome |
|
Hepatomegaly, Splenomegaly, Leukocytosis, Lymphadenopathy, Increased circulating IgM level, Anemia |
ORPHA:37748 |
| Eec Syndrome |
|
Hypospadias, Decreased response to growth hormone stimulation test, Short stature, Renal hypoplas... |
ORPHA:1896 |
| Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation |
|
Decreased circulating IgG level, Hepatomegaly, Autoimmune hemolytic anemia, Autoimmune thrombocyt... |
OMIM:616100 |
| Wiskott-Aldrich Syndrome |
|
Hemolytic anemia, Glomerulopathy, Abnormal eosinophil morphology, Microcytic anemia, Abnormality ... |
ORPHA:906 |
| Aplasia Cutis Congenita-Intestinal Lymphangiectasia Syndrome |
|
Abnormal hair quantity, Lymphopenia, Decreased circulating antibody level |
ORPHA:1116 |
| Combined Immunodeficiency With Facio-Oculo-Skeletal Anomalies |
|
Recurrent urinary tract infections, Ataxia, Decreased lymphocyte proliferation in response to ant... |
ORPHA:221139 |
| Mitochondrial Complex Iii Deficiency, Nuclear Type 2 |
|
Resting tremor, Skeletal muscle atrophy, Incoordination, Ataxia, Tremor, Paraparesis, Babinski si... |
OMIM:615157 |
| Nijmegen Breakage Syndrome |
|
Autoimmune hemolytic anemia, Recurrent urinary tract infections, Short stature, Dysgammaglobuline... |
OMIM:251260 |
| Adrenoleukodystrophy |
|
Alopecia, Incoordination, Urinary incontinence, Paraparesis, Spastic paraplegia, Primary adrenal ... |
OMIM:300100 |
| Neutropenia, Severe Congenital, 1, Autosomal Dominant |
|
Congenital agranulocytosis, Acute monocytic leukemia, Eosinophilia, Monocytosis, Increased circul... |
OMIM:202700 |
| Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked |
|
Duplicated collecting system, Hepatomegaly, Small for gestational age, Hypospadias, Short stature... |
OMIM:301056 |
| Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction |
|
Hypoparathyroidism, Aplasia of the thymus, Decreased response to growth hormone stimulation test,... |
OMIM:618223 |
| Monocyte Chemotactic Disorder |
|
Cutaneous anergy |
OMIM:252250 |
| Ichthyosis, Congenital, Autosomal Recessive 11 |
|
Curly hair, Brittle hair, Sparse eyelashes, Curly eyelashes, Sparse eyebrow, Hypohidrosis, Hyperk... |
OMIM:602400 |
| Progeria-Short Stature-Pigmented Nevi Syndrome |
|
Neoplasm of the pancreas, Decreased serum testosterone concentration, Alopecia, Multiple joint co... |
ORPHA:2959 |
| Dyskeratosis Congenita, Autosomal Recessive 8 |
|
Sparse scalp hair, Pancytopenia, B lymphocytopenia, Bone marrow hypocellularity, Nail dystrophy, ... |
OMIM:620133 |
| Combined Immunodeficiency-Enteropathy Spectrum |
|
Absent eyebrow, Autoimmune hemolytic anemia, Thickened skin, Hepatitis, Rectal abscess, Hypoplasi... |
ORPHA:436252 |
| Spastic Paraparesis-Deafness Syndrome |
|
Ataxia, Short stature, Hemiplegia/hemiparesis, Hypogonadism, Spastic paraparesis |
ORPHA:2815 |
| Parana Hard Skin Syndrome |
|
Short stature, Thickened skin, Growth delay, Hyperkeratosis, Generalized hirsutism |
ORPHA:2812 |
| Epidermodysplasia Verruciformis, Susceptibility To, 5 |
|
T lymphocytopenia, Lymphopenia |
OMIM:618309 |
| Cerebroretinal Microangiopathy With Calcifications And Cysts 2 |
|
Pancytopenia, Ataxia, Portal hypertension, Growth delay, Premature graying of hair, Hepatic fibro... |
OMIM:617341 |
| Acrokeratoelastoidosis Of Costa |
|
Hypergranulosis, Palmoplantar hyperkeratosis, Granulomatosis, Orthokeratosis, Hyperkeratotic papu... |
ORPHA:38 |
| Ritscher-Schinzel Syndrome 4 |
|
Curly hair, Ataxia, Short stature, Cryptorchidism, Chorea, Athetosis, Micropenis |
OMIM:619435 |
| Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome |
|
Hepatomegaly, Failure to thrive, Severe B lymphocytopenia, Parakeratosis, Biliary hyperplasia, Cr... |
ORPHA:83617 |
| Insulin-Resistance Syndrome Type A |
|
Hyperkeratosis, Type II diabetes mellitus, Generalized hirsutism, Delayed puberty |
ORPHA:2297 |
| Frontotemporal Dementia With Motor Neuron Disease |
|
Weakness due to upper motor neuron dysfunction, Parkinsonism, Paraparesis, Babinski sign, Progres... |
ORPHA:275872 |
| Khan-Khan-Katsanis Syndrome |
|
Ureteral duplication, Lymphopenia, Patent ductus arteriosus after premature birth, Short stature,... |
OMIM:618460 |
| Charcot-Marie-Tooth Disease, X-Linked Dominant, 1 |
|
Distal lower limb amyotrophy, Incoordination, Hand muscle weakness, Tremor, Paraparesis, Achilles... |
OMIM:302800 |
| Johanson-Blizzard Syndrome |
|
Hypoplasia of penis, Diabetes mellitus, Hypospadias, Short stature, Alopecia, Abnormal hair patte... |
ORPHA:2315 |
| Hyper-Ige Syndrome 4A, Autosomal Dominant, With Recurrent Infections |
|
Lymphopenia, Increased circulating IgE level, Decreased circulating IgA level, Decreased circulat... |
OMIM:619752 |
| Proteasome-Associated Autoinflammatory Syndrome 3 |
|
Hepatomegaly, Failure to thrive, Myositis, Splenomegaly, Flexion contracture, Lymphadenopathy, An... |
OMIM:617591 |
| Inflammatory Bowel Disease, Immunodeficiency, And Encephalopathy |
|
Perianal abscess, Leukocytosis, Increased circulating IgE level, Spasticity, Increased circulatin... |
OMIM:618213 |
| Lymphatic Malformation 11 |
|
Pedal edema, Lymphedema |
OMIM:619401 |
| Woolly Hair Nevus |
|
Curly hair, Patchy hypopigmentation of hair, Precocious puberty, Fine hair, Woolly scalp hair, Co... |
ORPHA:79414 |
| Poikiloderma With Neutropenia |
|
Plantar hyperkeratosis, Short stature, Sparse eyebrow, Splenomegaly, Low posterior hairline, Grow... |
OMIM:604173 |
| Kimura Disease |
|
Eosinophilia, Follicular hyperplasia, Increased circulating IgE level, Lymphadenopathy, Abnormal ... |
ORPHA:482 |
| Adult Idiopathic Neutropenia |
|
Abnormal neutrophil count, Monocytosis, Increased circulating IgM level, Neutropenia, Monocytopen... |
ORPHA:2688 |
| Leopard Syndrome 3 |
|
Curly hair, Short stature, Epidermal hyperkeratosis, Low posterior hairline, Growth delay, Hyperk... |
OMIM:613707 |
| Erythrokeratodermia Variabilis Et Progressiva 5 |
|
Abnormal hair morphology, Hyperkeratosis, Onychogryposis, Palmoplantar hyperkeratosis |
OMIM:617756 |
| Woolly Hair, Autosomal Recessive 3 |
|
Sparse scalp hair, Curly hair, Sparse eyelashes, Fine hair, Sparse hair, Trichorrhexis nodosa |
OMIM:616760 |
| Anonychia With Flexural Pigmentation |
|
Abnormal hair morphology, Hyperkeratosis, Alopecia of scalp, Follicular hyperkeratosis, Anonychia |
ORPHA:69125 |
| Macdermot-Winter Syndrome |
|
Camptodactyly of finger, Highly arched eyebrow, Low anterior hairline, Frontal upsweep of hair, H... |
OMIM:247990 |
| Primary Intestinal Lymphangiectasia |
|
Decreased circulating IgG level, Peritoneal effusion, Abnormal lymphatic vessel morphology, Weigh... |
ORPHA:90362 |
| Spastic Paraparesis And Deafness |
|
Tremor, Hypogonadism, Short stature, Spastic paraparesis |
OMIM:312910 |
| Severe Combined Immunodeficiency Due To Dclre1C Deficiency |
|
Failure to thrive, Decreased proportion of CD3-positive T cells, Decreased circulating IgG level,... |
ORPHA:275 |
| Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia |
|
Recurrent urinary tract infections, Short stature, Decreased response to growth hormone stimulati... |
OMIM:307200 |
| Igg4-Related Kidney Disease |
|
Lymphadenitis, Renal interstitial immunoglobulin deposits, Sterile pyuria, Tubulointerstitial nep... |
ORPHA:449395 |
| Bone Marrow Failure Syndrome 3 |
|
Aplastic anemia, Pancreatic steatosis, Neutropenia, Sparse hair, Short stature, Cryptorchidism, S... |
OMIM:617052 |
| O'Sullivan-Mcleod Syndrome |
|
Eosinophilia, Hand muscle weakness, Tremor, Intrinsic hand muscle atrophy, Upper limb muscle weak... |
ORPHA:99965 |
| Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 6 |
|
Pancytopenia, Decreased circulating antibody level, Premature graying of hair, Bone marrow hypoce... |
OMIM:619767 |
| Igg4-Related Submandibular Gland Disease |
|
Renal insufficiency, Eosinophilia, Cholangitis, Abnormality of the kidney, Retroperitoneal fibros... |
ORPHA:449432 |
| Reni Syndrome |
|
Diffuse mesangial sclerosis, Proteinuria, Ataxia, Mesangial hypercellularity, Podocyte foot proce... |
OMIM:617575 |
| Cystic Echinococcosis |
|
Abnormal peritoneum morphology, Hepatomegaly, Abscess, Abnormality of the testis size, Eosinophil... |
ORPHA:400 |
| Agammaglobulinemia 1, Autosomal Recessive |
|
Decreased circulating antibody level, Agammaglobulinemia, B lymphocytopenia, Rectal abscess, Neut... |
OMIM:601495 |
| Candidiasis, Familial, 1 |
|
Abnormality of the endocrine system, Alopecia, Cutaneous anergy |
OMIM:114580 |
| X-Linked Adrenoleukodystrophy |
|
Neurogenic bladder, Incoordination, Paralysis, Paraparesis, Progressive spastic paraparesis, Incr... |
ORPHA:43 |
| Sialidosis Type 1 |
|
Skeletal muscle atrophy, Urinary excretion of sialylated oligosaccharides, Ataxia, Short stature,... |
ORPHA:812 |
| Alpers-Huttenlocher Syndrome |
|
Ataxia, Paraparesis, Choreoathetosis, Myoclonus, Progressive spasticity, Spastic paraparesis, Spa... |
ORPHA:726 |
| Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 4A |
|
Spastic ataxia, Failure to thrive, Cerebral palsy, Spastic tetraparesis, Paraparesis, Oroticacidu... |
OMIM:620358 |
| Dyskeratosis Congenita, Autosomal Recessive 5 |
|
Postnatal growth retardation, Decreased circulating antibody level, Leukopenia, Bone marrow hypoc... |
OMIM:615190 |
| Giant Axonal Neuropathy 1, Autosomal Recessive |
|
Curly hair, Facial palsy, Spastic paraplegia, Abnormal pyramidal sign, Distal amyotrophy |
OMIM:256850 |
| Retinal Telangiectasia And Hypogammaglobulinemia |
|
Reduced delayed hypersensitivity, Decreased circulating IgG level |
OMIM:267900 |
| Cerebral Creatine Deficiency Syndrome 2 |
|
Lower limb spasticity, Ataxia, Tremor, Rigidity, Paraparesis, Hypertonia, Myoclonus, Progressive ... |
OMIM:612736 |
| Palmoplantar Keratoderma, Nagashima Type |
|
Orthokeratotic hyperkeratosis, Palmoplantar hyperhidrosis, Hypergranulosis, Palmoplantar hyperker... |
OMIM:615598 |
| Ichthyosis, Congenital, Autosomal Recessive 13 |
|
Ichthyosis, Hyperkeratosis, Hypergranulosis, Palmoplantar hyperkeratosis |
OMIM:617574 |
| Acrokeratosis Verruciformis |
|
Hyperkeratosis, Punctate palmoplantar hyperkeratosis, Ridged nail, Acrokeratosis |
OMIM:101900 |
| Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome |
|
Autoimmune hemolytic anemia, Short stature, Autoimmune thrombocytopenia, Abnormality of the endoc... |
ORPHA:391487 |
| Rothmund-Thomson Syndrome, Type 1 |
|
Absent eyebrow, Premature ovarian insufficiency, Short stature, Thin nail, Absent eyelashes, Hype... |
OMIM:618625 |
| Palmoplantar Keratoderma, Nonepidermolytic, Focal 1 |
|
Perioral hyperkeratosis, Palmoplantar keratoderma, Follicular hyperkeratosis, Congenital bullous ... |
OMIM:613000 |
| Noonan Syndrome 9 |
|
Curly hair, Hydroureter, Short stature, Sparse eyebrow, Cryptorchidism |
OMIM:616559 |
| Simple Cryoglobulinemia |
|
Viral hepatitis, Renal insufficiency, Membranoproliferative glomerulonephritis, Proteinuria, Abno... |
ORPHA:91139 |
| Digeorge Syndrome |
|
Impaired T cell function, Parathyroid hypoplasia, Abnormal thymus morphology, Hypoplasia of the t... |
OMIM:188400 |
| Neonatal Lupus Erythematosus |
|
Hemolytic anemia, Pancytopenia, Hepatomegaly, Aplastic anemia, Parakeratosis, Splenomegaly, Chole... |
ORPHA:398124 |
| Stormorken Syndrome |
|
Howell-Jolly bodies, Short stature, Asplenia, Anemia, Hematuria, Myopathy, Ichthyosis, Hypoplasti... |
OMIM:185070 |
| Tularemia |
|
Brain abscess, Mediastinal lymphadenopathy, Leukocytosis, Cervical lymphadenopathy, Thrombocytope... |
ORPHA:3392 |
| Congenital Disorder Of Glycosylation, Type Iq |
|
Microcytic anemia, Hyperkeratosis, Ichthyosis, Spasticity, Failure to thrive, Hypertrichosis |
OMIM:612379 |
| Erythrokeratodermia Variabilis |
|
Alopecia, Diabetes mellitus, Short stature, Abnormal hair morphology, Patchy palmoplantar hyperke... |
ORPHA:317 |
| Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked |
|
Alopecia, Eosinophilia, Glomerulonephritis, Autoimmune thrombocytopenia, Increased circulating Ig... |
OMIM:304790 |
| Immunodeficiency 22 |
|
Decreased circulating IgG level, Abscess, Anemia, Decreased circulating total IgM, Decreased circ... |
OMIM:615758 |
| Charcot-Marie-Tooth Disease, X-Linked Recessive, 3 |
|
Upper limb muscle weakness, Paraparesis, Distal amyotrophy, Foot dorsiflexor weakness |
OMIM:302802 |
| Angiostrongyliasis |
|
Increased circulating IgA level, Hypereosinophilia, Increased circulating specific IgE antibody, ... |
ORPHA:74 |
| Acrodermatitis Enteropathica, Zinc-Deficiency Type |
|
Hepatomegaly, Ataxia, Impaired T cell function, Short stature, Tremor, Splenomegaly, Paronychia, ... |
OMIM:201100 |
| Bloom Syndrome |
|
Paronychia, Decreased circulating IgG level, Decreased proportion of CD4-positive T cells, Male i... |
ORPHA:125 |
| Lethal Congenital Contracture Syndrome 10 |
|
Torticollis, Macroglossia, Hypoplasia of the thymus, Increased variability in muscle fiber diamet... |
OMIM:617022 |
| Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked |
|
Increased mean platelet volume, Patent ductus arteriosus, Spastic diplegia, Hydronephrosis, Throm... |
OMIM:300048 |
| Axial Mesodermal Dysplasia Spectrum |
|
Short stature, Congenital diaphragmatic hernia, Renal hypoplasia/aplasia, Abnormality of the sple... |
ORPHA:1834 |
| Williams-Beuren Region Duplication Syndrome |
|
Speech apraxia, Small for gestational age, Decreased response to growth hormone stimulation test,... |
OMIM:609757 |
| Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 1 |
|
Skeletal muscle atrophy, Parkinsonism, Paraparesis, Tetraparesis, Extrapyramidal dyskinesia, Apraxia |
OMIM:105550 |
| Intellectual Developmental Disorder, Autosomal Dominant 56 |
|
Lower limb spasticity, Ataxia, Paraparesis, Oromotor apraxia, Clumsiness, Bradykinesia, Myoclonus... |
OMIM:617854 |
| Brucellosis |
|
Liver abscess, Chorea, Hyperhidrosis, Leukopenia, Abnormality of the liver, Increased circulating... |
ORPHA:1304 |
| Acitretin/Etretinate Embryopathy |
|
Hypoplasia of the thymus |
ORPHA:40366 |
| Lead Poisoning |
|
Decreased female libido, Small for gestational age, Abnormality of the menstrual cycle, Chronic k... |
ORPHA:330015 |
| Noonan Syndrome 7 |
|
Curly hair, Short stature, Large for gestational age, Hyperhidrosis, Growth delay, Low posterior ... |
OMIM:613706 |
| Autosomal Recessive Generalized Epidermolysis Bullosa Simplex |
|
Ridged nail, Abnormal fingernail morphology, Palmoplantar hyperkeratosis, Hyperkeratosis, Abnorma... |
ORPHA:89838 |
| Aregenerative Anemia |
|
Pancytopenia, Erythroid hypoplasia, Reticulocytopenia, Lymphadenopathy, Bone marrow hypocellulari... |
ORPHA:101096 |
| Autoimmune Hepatitis |
|
Viral hepatitis, Acute hepatitis, Glomerulonephritis, Splenomegaly, Fulminant hepatitis, Jaundice... |
ORPHA:2137 |
| Pili Torti-Developmental Delay-Neurological Abnormalities Syndrome |
|
Ataxia, Abnormality of hair texture, Growth delay, Sparse or absent eyelashes, Pili torti, Aplasi... |
ORPHA:2891 |
| Spondyloenchondrodysplasia With Immune Dysregulation |
|
Short stature, Autoimmune thrombocytopenia, Spastic diplegia, Lymphadenopathy, T lymphocytopenia,... |
OMIM:607944 |
| X-Linked Charcot-Marie-Tooth Disease Type 5 |
|
Tremor, Paraparesis, Ataxia, Skeletal muscle hypertrophy |
ORPHA:99014 |
| Say-Barber-Miller Syndrome |
|
Short stature, Abnormality of the hairline, Highly arched eyebrow, Sparse eyebrow, Cryptorchidism... |
ORPHA:3132 |
| Multiple Myeloma |
|
Increased circulating IgA level, Splenomegaly, Weight loss, Lymphadenopathy, Nephrotic syndrome, ... |
ORPHA:29073 |
| Hyper-Ige Syndrome 4B, Autosomal Recessive, With Recurrent Infections |
|
Macroglossia, Joint contracture of the hand, Increased circulating IgE level, Eosinophilia |
OMIM:618523 |
| Autoinflammation, Panniculitis, And Dermatosis Syndrome |
|
Neutrophilia, Failure to thrive in infancy, Increased circulating IgA level, Leukocytosis, Lympha... |
OMIM:617099 |
| Netherton Syndrome |
|
Sparse scalp hair, Short stature, Sparse eyelashes, Ectopic kidney, Sparse eyebrow, Abnormal hair... |
ORPHA:634 |
| Acquired Hypertrichosis Lanuginosa |
|
Abnormal eyebrow morphology, Hypopigmentation of hair, Thickened skin, Ovarian neoplasm, Weight l... |
ORPHA:2221 |
| Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency |
|
Abnormality of the pancreas, White hair, Fine hair, Agammaglobulinemia, Lymphopenia, Anemia |
ORPHA:935 |
| Bazex Syndrome |
|
Parakeratosis, Yellow nails, Hyperkeratosis, Palmoplantar keratoderma, Nail dystrophy, Acanthosis... |
ORPHA:166113 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Bain Type |
|
Curly hair, Ataxia, Short stature, Hypertonia, Failure to thrive |
OMIM:300986 |
| Granulomatous Disease, Chronic, Autosomal Recessive, 5 |
|
Hemolytic anemia, Acute pancreatitis, Short stature, Abscess, Perianal abscess, Lymphadenitis, Sp... |
OMIM:618935 |
| Lymphatic Filariasis |
|
Proteinuria, Abnormality of the kidney, Glomerulonephritis, Orchitis, Lymphadenitis, Circulating ... |
ORPHA:2035 |
| Cardiofaciocutaneous Syndrome 2 |
|
Sparse hair, Curly hair, Absent eyebrow, Fine hair |
OMIM:615278 |
| Tick-Borne Encephalitis |
|
Speech apraxia, Skeletal muscle atrophy, Incoordination, Facial palsy, Paralysis, Tremor, Leukocy... |
ORPHA:297 |
| Microphthalmia, Syndromic 9 |
|
Renal malrotation, Severe short stature, Short stature, Congenital diaphragmatic hernia, Cryptorc... |
OMIM:601186 |
| Donohue Syndrome |
|
Skeletal muscle atrophy, Precocious puberty, Postnatal growth retardation, Long penis, Hyperinsul... |
OMIM:246200 |
| Hereditary Orotic Aciduria |
|
Orotic acid crystalluria, Impaired T cell function, Splenomegaly, Patent ductus arteriosus, Abnor... |
ORPHA:30 |
| Hidrotic Ectodermal Dysplasia |
|
Slow-growing nails, Palmoplantar hyperkeratosis, Absent pubic hair, Sparse hair, Hyperkeratotic p... |
ORPHA:189 |
| Trisomy 13 |
|
Anophthalmia, Hydrops fetalis, Aplasia/Hypoplasia of the iris, Microphthalmia, Intrauterine growt... |
ORPHA:3378 |
| Recombinant Chromosome 8 Syndrome |
|
Postnatal growth retardation, Cryptorchidism, Patent ductus arteriosus, Low posterior hairline, G... |
OMIM:179613 |
| Hydrolethalus |
|
Microphthalmia, Anophthalmia, Anencephaly, Polyhydramnios |
ORPHA:2189 |
| Immunodeficiency 11B With Atopic Dermatitis |
|
Decreased circulating total IgM, Increased circulating IgE level, Eosinophilia |
OMIM:617638 |
| Paraparetic Variant Of Guillain-Barré Syndrome |
|
Paraparesis, Urinary bladder sphincter dysfunction |
ORPHA:231445 |
| Bare Lymphocyte Syndrome, Type Ii |
|
Viral hepatitis, Recurrent urinary tract infections, Cholangitis, Biliary tract abnormality, Agam... |
OMIM:209920 |
| Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome |
|
Short stature, Thrombocytopenia, Reticulocytopenia, Leukopenia, Rhizomelic arm shortening, B lymp... |
ORPHA:508542 |
| Thrombocytopenia With Elevated Serum Iga And Renal Disease |
|
Hematuria, Glomerulonephritis, Thrombocytopenia, Increased circulating IgA level |
OMIM:314000 |
| Proteasome-Associated Autoinflammatory Syndrome 1 |
|
Skeletal muscle atrophy, Increased circulating interleukin 6 concentration, Microcytic anemia, Fl... |
OMIM:256040 |
| Noduli Cutanei, Multiple, With Urinary Tract Abnormalities |
|
Duplicated collecting system, Hydronephrosis |
OMIM:163850 |
| Acute Radiation Syndrome |
|
Hyperkeratosis, Lymphopenia, Granulocytopenia, Thrombocytopenia |
ORPHA:454831 |
| Uncombable Hair Syndrome 3 |
|
Uncombable hair, Curly hair, Brittle hair, Pili canaliculi |
OMIM:617252 |
| Immunodeficiency, X-Linked, With Deficiency Of 115,000 Dalton Surface Glycoprotein |
|
Abnormality of T cell physiology |
OMIM:308220 |
| Early-Onset Epileptic Encephalopathy-Cortical Blindness-Intellectual Disability-Facial Dysmorphism Syndrome |
|
Anophthalmia |
ORPHA:411986 |
| Congenital Disorder Of Glycosylation, Type Iig |
|
Renal insufficiency, Failure to thrive in infancy, Hypospadias, Short stature, Rhizomelia, Hemoly... |
OMIM:611209 |
| Cowden Syndrome 1 |
|
Hyperthyroidism, Acrokeratosis, Thyroiditis, Palmoplantar hyperkeratosis, Decreased circulating a... |
OMIM:158350 |
| Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency |
|
Hepatomegaly, Autoimmune hemolytic anemia, Pure red cell aplasia, Autoimmune thrombocytopenia, Sp... |
ORPHA:436159 |
| Cartilage-Hair Hypoplasia |
|
Impaired lymphocyte transformation with phytohemagglutinin, Macrocytic anemia, Fair hair, Sparse ... |
OMIM:250250 |
| Monosomy 22 |
|
Aplasia of the thymus, Thickened skin, Synophrys, Hypochromic microcytic anemia, Hyperhidrosis, H... |
ORPHA:96123 |
| Fraser Syndrome 2 |
|
Renal agenesis, Unilateral renal agenesis, Low anterior hairline, Renal hypoplasia, Ureteral agen... |
OMIM:617666 |
| Tempi Syndrome |
|
Increased circulating IgG level, Increased hematocrit, Polycythemia, Abnormality of the kidney |
ORPHA:284227 |
| 2p15-16.1 microdeletion syndrome |
|
Camptodactyly of finger, Hydronephrosis |
DECIPHER:70 |
| Primary Angiitis Of The Central Nervous System |
|
Ataxia, Parkinsonism, Paralysis, Paraparesis, Hemiparesis, Tetraparesis |
ORPHA:140989 |
| Kufor-Rakeb Syndrome |
|
Torticollis, Ataxia, Parkinsonism, Tremor, Rigidity, Paraparesis, Babinski sign, Spastic parapleg... |
OMIM:606693 |
| Incontinentia Pigmenti |
|
Ridged nail, Alopecia, Short stature, Eosinophilia, Supernumerary nipple, Leukocytosis, Nail pits... |
OMIM:308300 |
| Witkop Syndrome |
|
Ridged nail, Concave nail, Nail pits, Fine hair, Small nail, Sparse hair |
OMIM:189500 |
| Palmoplantar Keratoderma, Norrbotten Recessive Type |
|
Hyperkeratosis, Palmoplantar keratoderma |
OMIM:244850 |
| X-Linked Intellectual Disability, Schimke Type |
|
Hip contracture, Failure to thrive in infancy, Short stature, Ankle flexion contracture, Elbow fl... |
ORPHA:85285 |
| Noonan Syndrome-Like Disorder With Loose Anagen Hair 1 |
|
Duplicated collecting system, Curly hair, Sparse scalp hair, Short stature, Large for gestational... |
OMIM:607721 |
| Lysinuric Protein Intolerance |
|
Hepatomegaly, Skeletal muscle atrophy, Short stature, Splenomegaly, Oroticaciduria, Stage 5 chron... |
OMIM:222700 |
| Gaucher Disease Type 1 |
|
Hepatomegaly, Pancytopenia, Proteinuria, Hypersplenism, Splenomegaly, Anemia, Leukopenia, Hematur... |
ORPHA:77259 |
| Alg12-Cdg |
|
Decreased serum insulin-like growth factor 1, Hypospadias, Partial absence of specific antibody r... |
ORPHA:79324 |
| Cutis Laxa, Autosomal Recessive, Type Ic |
|
Accessory spleen, Posterolateral diaphragmatic hernia, Adrenal hypoplasia, Morgagni diaphragmatic... |
OMIM:613177 |
| Autosomal Recessive Spastic Paraplegia Type 25 |
|
Paraparesis, Spastic paraplegia |
ORPHA:101005 |
| Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies |
|
Decreased response to growth hormone stimulation test, Synophrys, Flexion contracture, Knee flexi... |
OMIM:619503 |
| Trichothiodystrophy 5, Nonphotosensitive |
|
Brittle hair, Short stature, Slow-growing hair, Sparse eyebrow, Chronic decreased circulating IgG... |
OMIM:300953 |
| Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome |
|
Hepatomegaly, Postnatal growth retardation, Splenomegaly, Cryptorchidism, Pancreatic lymphangiect... |
ORPHA:1655 |
| Autoinflammation, Antibody Deficiency, And Immune Dysregulation |
|
Decreased circulating total IgM, Decreased circulating IgA level, Decreased proportion of class-s... |
OMIM:614878 |
| Hypotrichosis Simplex Of The Scalp |
|
Abnormal eyebrow morphology, Parakeratosis, Sparse scalp hair, Absent facial hair, Abnormality of... |
ORPHA:90368 |
| Alveolar Echinococcosis |
|
Liver abscess, Cholangitis, Renal cyst, Ataxia, Portal hypertension, Abnormal mesentery morpholog... |
ORPHA:284 |
| Congenital Myopathy 19 |
|
Skeletal muscle atrophy, Facial hypotonia, Cryptorchidism, Renal atrophy, Congenital contracture,... |
OMIM:618578 |
| Immunodeficiency With Hyper-Igm, Type 2 |
|
Impaired Ig class switch recombination, Lymphadenopathy, Increased circulating IgM level, Decreas... |
OMIM:605258 |
| Treacher-Collins Syndrome |
|
Hypoplasia of penis, Small scrotum, Absent eyelashes, Cryptorchidism, Patent ductus arteriosus, A... |
ORPHA:861 |
| Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome |
|
Curly hair, Hypospadias, Decreased response to growth hormone stimulation test, Short stature, Ab... |
ORPHA:444077 |
| Porokeratosis Of Mibelli |
|
Hyperkeratosis, Porokeratosis |
ORPHA:735 |
| Craniofrontonasal Syndrome |
|
Ridged nail, Split nail, Curly hair, Hypospadias, Short stature, Congenital diaphragmatic hernia,... |
OMIM:304110 |
| Ichthyosis, Lamellar, Autosomal Dominant |
|
Hyperkeratosis, Congenital nonbullous ichthyosiform erythroderma |
OMIM:146750 |
| Dowling-Degos Disease 2 |
|
Hyperkeratotic papule, Follicular hyperkeratosis |
OMIM:615327 |
| Prolidase Deficiency |
|
Hepatomegaly, Hyperimidodipeptiduria, Splenomegaly, Low posterior hairline, Anemia, Increased cir... |
OMIM:170100 |
| 22Q11.2 Deletion Syndrome |
|
Impaired T cell function, Hypoplasia of the thymus, Abnormality of the uterus, Vesicoureteral ref... |
ORPHA:567 |
| Transcobalamin Ii Deficiency |
|
Decreased circulating IgG level, Hepatomegaly, Macrocytic anemia, Pancytopenia, Ataxia, Erythroid... |
OMIM:275350 |
| Ring Chromosome 8 Syndrome |
|
Abnormality of the ureter, Hydronephrosis, Low posterior hairline |
ORPHA:1450 |
| Osteopetrosis With Renal Tubular Acidosis |
|
Hepatomegaly, Pancytopenia, Short stature, Thrombocytopenia, Enlarged tonsils, Proximal renal tub... |
ORPHA:2785 |
| Dermatoleukodystrophy |
|
Hyperkeratosis, Thickened skin |
ORPHA:1659 |
| Ichthyosis Hystrix, Lambert Type |
|
Hyperkeratosis, Orthokeratotic hyperkeratosis |
OMIM:146600 |
| Hereditary Palmoplantar Keratoderma, Gamborg-Nielsen Type |
|
Hyperkeratosis with erythema, Diffuse palmoplantar hyperkeratosis |
ORPHA:86923 |
| Palmoplantar Keratoderma, Punctate Type Iii |
|
Hyperkeratosis, Acrokeratosis |
OMIM:101850 |
| 3-Methylglutaconic Aciduria, Type V |
|
Hypospadias, Ataxia, Postnatal growth retardation, Cryptorchidism, Microvesicular hepatic steatos... |
OMIM:610198 |
| Immunodeficiency With Hyper-Igm, Type 5 |
|
Impaired Ig class switch recombination, Epididymitis, Lymphadenopathy, Increased circulating IgM ... |
OMIM:608106 |
| Anophthalmia Plus Syndrome |
|
Anophthalmia, Spina bifida |
ORPHA:1104 |
| Palmoplantar Keratoderma-Deafness Syndrome |
|
Hyperkeratosis, Palmoplantar keratoderma |
ORPHA:2202 |
| Oculodentodigital Dysplasia |
|
Curly hair, Neurogenic bladder, Brittle hair, Ataxia, Camptodactyly of finger, Abnormal fingernai... |
ORPHA:2710 |
| Lissencephaly Syndrome, Norman-Roberts Type |
|
Intrauterine growth retardation, Hypoplastic spleen |
ORPHA:89844 |
| Noonan Syndrome-Like Disorder With Loose Anagen Hair 2 |
|
Curly hair, Short stature, Slow-growing hair, Highly arched eyebrow, Cryptorchidism, Patent ductu... |
OMIM:617506 |
| Thiamine Metabolism Dysfunction Syndrome 2 (Biotin- Or Thiamine-Responsive Type) |
|
Facial palsy, Rigidity, Paraparesis, Chorea, Babinski sign, Abnormal pyramidal sign, Truncal titu... |
OMIM:607483 |
| Leopard Syndrome 2 |
|
Curly hair, Short stature |
OMIM:611554 |
| Pearson Syndrome |
|
Decreased response to growth hormone stimulation test, Renal cyst, Abnormality of the liver, Neut... |
ORPHA:699 |
| Immunodeficiency 82 With Systemic Inflammation |
|
Decreased proportion of naive T cells, Follicular hyperplasia, Splenomegaly, Hepatitis, Lymphaden... |
OMIM:619381 |
| Moynahan Syndrome |
|
Alopecia, Short stature, Cachexia, Hyperkeratosis, Hypogonadism, Sparse hair |
ORPHA:2574 |
| Congenital Heart Defects, Dysmorphic Facial Features, And Intellectual Developmental Disorder |
|
Curly hair, Short stature, Highly arched eyebrow, Low posterior hairline, Camptodactyly, Intraute... |
OMIM:617360 |
| Gaucher Disease, Perinatal Lethal |
|
Hepatomegaly, Splenomegaly, Hepatosplenomegaly, Anemia, Opisthotonus, Ichthyosis, Hyperkeratosis,... |
OMIM:608013 |
| Isolated Anencephaly |
|
Thymus hyperplasia, Adrenal hypoplasia, Congenital diaphragmatic hernia, Maternal diabetes, Intra... |
ORPHA:563609 |
| Epidermolysis Bullosa Simplex 1C, Localized |
|
Hyperkeratosis |
OMIM:131800 |
| Image Syndrome |
|
Hypospadias, Adrenal hypoplasia, Cryptorchidism, Hypogonadism, Intrauterine growth retardation, H... |
ORPHA:85173 |
| Microcephaly, Short Stature, And Impaired Glucose Metabolism 2 |
|
Small for gestational age, Kinetic tremor, Short stature, Cryptorchidism, Renal hypoplasia, Gait ... |
OMIM:616817 |
| Ebola Hemorrhagic Fever |
|
Acute pancreatitis, Hepatitis, Leukopenia, Increased circulating antibody level, Lymphopenia, Thr... |
ORPHA:319218 |
| Cerebroretinal Microangiopathy With Calcifications And Cysts 1 |
|
Ataxia, Short stature, Tremor, Postnatal growth retardation, Abnormal pyramidal sign, Fine hair, ... |
OMIM:612199 |
| Coccidioidomycosis |
|
Renal insufficiency, Abnormal sperm morphology, Abscess, Eosinophilia, Abnormality of the kidney,... |
ORPHA:228123 |
| Bardet-Biedl Syndrome 19 |
|
Renal insufficiency, External genital hypoplasia, Patent ductus arteriosus, Obesity, Renal hypopl... |
OMIM:615996 |
| Congenital Panfollicular Nevus |
|
Hyperkeratosis |
ORPHA:139414 |
| Bone Marrow Failure Syndrome 6 |
|
Persistence of hemoglobin F, Increased mean corpuscular volume, Bone marrow hypocellularity, Neut... |
OMIM:618849 |
| Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 3 |
|
Lower limb spasticity, Curly hair, Cerebral palsy, Ataxia, Short stature, Precocious puberty, Hig... |
OMIM:619950 |
| Neurodevelopmental Disorder With Central Hypotonia And Dysmorphic Facies |
|
Cryptorchidism, Patent ductus arteriosus, Frontal upsweep of hair, Hydronephrosis |
OMIM:619797 |
| Mevalonic Aciduria |
|
Normocytic hypoplastic anemia, Failure to thrive in infancy, Ataxia, Short stature, Fluctuating s... |
OMIM:610377 |
| Hyperkeratosis-Hyperpigmentation Syndrome |
|
Hyperkeratosis |
ORPHA:1336 |
| Noonan Syndrome 10 |
|
Curly hair, Short stature, Sparse eyebrow, Cryptorchidism, Patent ductus arteriosus, Hyperkeratos... |
OMIM:616564 |
| Reticulate Acropigmentation Of Kitamura |
|
Hyperkeratosis |
OMIM:615537 |
| Naxos Disease |
|
Abnormal morphology of right ventricular trabeculae, Subungual hyperkeratosis, Curly hair, Acanth... |
OMIM:601214 |
| Mosaic Trisomy 9 |
|
Hypoplasia of penis, Camptodactyly of finger, Asplenia, Cryptorchidism, Patent ductus arteriosus,... |
ORPHA:99776 |
| Trichothiodystrophy |
|
Ridged nail, Multiple joint contractures, Brittle hair, Abnormal pyramidal sign, Gait ataxia, Hyp... |
ORPHA:33364 |
| Dubowitz Syndrome |
|
Hypoparathyroidism, Sparse scalp hair, Hypospadias, Short stature, Abnormality of neutrophils, Ab... |
ORPHA:235 |
| Erythrokeratoderma ''En Cocardes'' |
|
Hyperkeratosis |
ORPHA:315 |
| Epidermolysis Bullosa Simplex 4, Localized Or Generalized Intermediate, Autosomal Recessive |
|
Hyperkeratosis |
OMIM:615028 |
| Hypotrichosis 4 |
|
Sparse scalp hair, Alopecia, Sparse eyelashes, Sparse eyebrow, Uncombable hair, Sparse body hair |
OMIM:146550 |
| Joubert Syndrome 37 |
|
Hepatomegaly, Short stature, Cryptorchidism, Obesity, Hydronephrosis, Sparse hair, Oculomotor apr... |
OMIM:619185 |
| Immunodeficiency 55 |
|
Absent natural killer cells, Short stature, Postnatal growth retardation, Neutropenia, Lymphadeno... |
OMIM:617827 |
| 3-Phosphoglycerate Dehydrogenase Deficiency, Infantile/Juvenile Form |
|
Short stature, Megaloblastic anemia, Abnormality of hair texture, Spastic tetraplegia, Athetosis,... |
ORPHA:79351 |
| Igg4-Related Retroperitoneal Fibrosis |
|
Normocytic anemia, Renal insufficiency, Dysuria, Hashimoto thyroiditis, Varicocele, Renovascular ... |
ORPHA:49041 |
| Orotic Aciduria |
|
Orotic acid crystalluria, Impaired T cell function, Anisocytosis, Folate-unresponsive megaloblast... |
OMIM:258900 |
| Idiopathic Chronic Eosinophilic Pneumonia |
|
Leukocytosis, Increased circulating IgE level, Hypereosinophilia, Weight loss |
ORPHA:2902 |
| Carpenter Syndrome 1 |
|
Hydroureter, Short stature, External genital hypoplasia, Precocious puberty, Cryptorchidism, Pate... |
OMIM:201000 |
| Spinal Arachnoiditis |
|
Spastic paraparesis |
OMIM:182950 |
| Hyperkeratosis Lenticularis Perstans |
|
Hyperkeratosis lenticularis perstans |
OMIM:144150 |
| Angioma Serpiginosum, Autosomal Dominant |
|
Hyperkeratosis |
OMIM:106050 |
| Papillomatosis, Confluent And Reticulated |
|
Hyperkeratosis |
OMIM:167900 |
| Spinal Arteriovenous Metameric Syndrome |
|
Lymphangioma, Urinary bladder sphincter dysfunction, Paraparesis, Abnormality of the kidney |
ORPHA:53721 |
| Takenouchi-Kosaki Syndrome |
|
Hypospadias, Ataxia, Unilateral renal agenesis, Increased mean platelet volume, Highly arched eye... |
OMIM:616737 |
| X-Linked Charcot-Marie-Tooth Disease Type 3 |
|
Distal lower limb amyotrophy, Hand muscle weakness, Tremor, Intrinsic hand muscle atrophy, Proxim... |
ORPHA:101077 |
| Trisomy 1Q |
|
Increased nuchal translucency, Anophthalmia, Hydrops fetalis, Polyhydramnios |
ORPHA:261344 |
| Congenital Disorder Of Glycosylation, Type Iie |
|
Hepatomegaly, Neurogenic bladder, Skeletal muscle atrophy, Short stature, Splenomegaly, Jaundice,... |
OMIM:608779 |
| Zttk Syndrome |
|
Absent gallbladder, Curly hair, Short stature, Polyuria, Unilateral renal agenesis, Sparse eyebro... |
OMIM:617140 |
| Acute Transverse Myelitis |
|
Urinary incontinence, Abscess, Paraparesis, Babinski sign, Paraplegia, Upper limb muscle weakness... |
ORPHA:139417 |
| Pulmonary Edema Of Mountaineers, Susceptibility To |
|
Edema, Pulmonary edema |
OMIM:178400 |
| Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis |
|
Hepatomegaly, Neutrophilia, Failure to thrive in infancy, Abscess, Splenomegaly, Hyperkeratosis |
OMIM:612852 |
| Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome |
|
Myositis, Iron deficiency anemia, Tubulointerstitial nephritis, Neutropenia, Hypothyroidism, Alop... |
ORPHA:37042 |
| Intellectual Developmental Disorder, Autosomal Dominant 34 |
|
Curly hair, Synophrys, Coarse hair |
OMIM:616351 |
| Epidermolytic Palmoplantar Keratoderma |
|
Abnormal fingernail morphology, Interphalangeal joint contracture of finger, Hypergranulosis, Epi... |
ORPHA:2199 |
| Lymphatic Malformation 8 |
|
Nonimmune hydrops fetalis, Polyhydramnios, Pericardial effusion, Pleural effusion, Generalized edema |
OMIM:618773 |
| Revesz Syndrome |
|
Aplastic anemia, Ataxia, Nail pits, Fine hair, Hypertonia, Bone marrow hypocellularity, Nail dyst... |
OMIM:268130 |
| Trichothiodystrophy 1, Photosensitive |
|
Brittle hair, Small for gestational age, Short stature, Trichoschisis, Flexion contracture, Fine ... |
OMIM:601675 |
| Prolidase Deficiency |
|
Hepatomegaly, Recurrent cystitis, Abnormal fingernail morphology, Splenomegaly, Low anterior hair... |
ORPHA:742 |
| Fanconi Anemia, Complementation Group J |
|
Postnatal growth retardation, Intrauterine growth retardation, Bone marrow hypocellularity |
OMIM:609054 |
| Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome |
|
Hypoplasia of penis, Recurrent urinary tract infections, Ambiguous genitalia, Abnormal hemoglobin... |
ORPHA:847 |
| Graham Little-Piccardi-Lassueur Syndrome |
|
Sparse scalp hair, Alopecia, Sparse axillary hair, Sparse pubic hair, Perifollicular hyperkeratosis |
ORPHA:505 |
| Ichthyosis Hystrix Of Curth-Macklin |
|
Diffuse palmoplantar hyperkeratosis, Flexion contracture, Hyperkeratosis, Nail dystrophy, Ichthyosis |
ORPHA:79503 |
| Prominent Glabella-Microcephaly-Hypogenitalism Syndrome |
|
Hypoplasia of penis, Small scrotum, Camptodactyly of finger, Highly arched eyebrow, Abnormal hair... |
ORPHA:2083 |
| Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis |
|
Hepatomegaly, Parakeratosis, Alopecia, Sparse eyelashes, Thick hair, Portal hypertension, Sparse ... |
OMIM:607626 |
| Weaver Syndrome |
|
Deep-set nails, Hypoplasia of penis, Abnormal fingernail morphology, Camptodactyly of finger, Thi... |
ORPHA:3447 |
| Congenital Muscular Dystrophy-Respiratory Failure-Skin Abnormalities-Joint Hyperlaxity Syndrome |
|
Multiple joint contractures, Centrally nucleated skeletal muscle fibers, Overweight, Cryptorchidi... |
ORPHA:486815 |
| Ringed Hair Disease |
|
Abnormal hair pattern, Fine hair |
ORPHA:169 |
| Dyskeratosis Congenita, Digenic |
|
Failure to thrive, Alopecia, Short stature, Sparse eyelashes, Decreased circulating total IgM, Na... |
OMIM:620040 |
| Psoriasis 14, Pustular |
|
Parakeratosis, Neutrophilia, Cholangitis, Leukocytosis, Nail dystrophy |
OMIM:614204 |
| Autosomal Recessive Complex Spastic Paraplegia Due To Kennedy Pathway Dysfunction |
|
Tetraplegia/tetraparesis, Progressive spastic paraparesis, Babinski sign, Moderately short statur... |
ORPHA:506353 |
| Hyper-Ige Syndrome 3, Autosomal Recessive, With Recurrent Infections |
|
Alopecia, Eosinophilia, Increased circulating IgE level, Decreased circulating IgA level, Cutaneo... |
OMIM:618282 |
| Dystrophic Epidermolysis Bullosa Pruriginosa |
|
Hyperkeratosis, Abnormal toenail morphology, Increased circulating IgE level, Nail dystrophy |
ORPHA:89843 |
| Incontinentia Pigmenti |
|
Alopecia, Hypoplastic fingernail, Short stature, Eosinophilia, Supernumerary nipple, Camptodactyl... |
ORPHA:464 |
| Nephrosis-Deafness-Urinary Tract-Digital Malformations Syndrome |
|
Abnormality of the urinary system, Hydronephrosis |
ORPHA:2669 |
| Immunodeficiency 47 |
|
Normocytic anemia, Accessory spleen, Hepatomegaly, Failure to thrive, Splenomegaly, Cholestasis, ... |
OMIM:300972 |
| Uncombable Hair Syndrome 2 |
|
Uncombable hair, Pili canaliculi |
OMIM:617251 |
| Palmoplantar Keratoderma And Congenital Alopecia 2 |
|
Alopecia totalis, Camptodactyly of finger, Palmoplantar hyperkeratosis, Hyperkeratosis, Nail dyst... |
OMIM:212360 |
| Gracile Bone Dysplasia |
|
Short stature, Asplenia, Micropenis, Hypoplastic spleen, Failure to thrive |
OMIM:602361 |
| Arrhythmogenic Right Ventricular Dysplasia, Familial, 11 |
|
Woolly hair, Palmoplantar keratoderma |
OMIM:610476 |
| Pili Bifurcati |
|
Abnormal hair morphology, Abnormality of hair texture |
ORPHA:720 |
| Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly |
|
Hepatomegaly, Thyroid lymphangiectasia, Splenomegaly, Cryptorchidism, Pancreatic lymphangiectasis... |
OMIM:235255 |
| Aquagenic Palmoplantar Keratoderma |
|
Orthokeratotic hyperkeratosis, Palmoplantar keratoderma, Palmoplantar hyperhidrosis |
ORPHA:498359 |
| Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders |
|
Proteinuria, Thick hair, Heparan sulfate excretion in urine, Thickened skin, Patent ductus arteri... |
ORPHA:505248 |
| Growth Delay-Intellectual Disability-Hepatopathy Syndrome |
|
Duplicated collecting system, Diabetes mellitus, Cholestasis, Hepatosplenomegaly, Growth delay, H... |
ORPHA:541423 |
| Congenital Muscular Dystrophy-Infantile Cataract-Hypogonadism Syndrome |
|
Hypogonadism, Congenital muscular dystrophy, Abnormality of the ovary, Decreased testicular size |
ORPHA:1875 |
| Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked |
|
Hypospadias, Renal agenesis, Postnatal growth retardation, Cryptorchidism, Reduced alpha/beta syn... |
OMIM:301040 |
| Lymphatic Malformation 7 |
|
Nonimmune hydrops fetalis, Edema, Lymphedema, Facial edema, Pericardial effusion, Increased nucha... |
OMIM:617300 |
| Matthew-Wood Syndrome |
|
Microphthalmia, Anophthalmia, Intrauterine growth retardation |
ORPHA:2470 |
| Fanconi Anemia, Complementation Group O |
|
Short stature, External genital hypoplasia, Cryptorchidism, Stage 5 chronic kidney disease, Renal... |
OMIM:613390 |
| Poems Syndrome |
|
Diabetes mellitus, Abnormality of the endocrine system, Hypothyroidism, Thickened skin, Primary a... |
ORPHA:2905 |
| Hypodontia-Dysplasia Of Nails Syndrome |
|
Abnormal fingernail morphology, Hypoplastic toenails, Fine hair, Polycystic ovaries, Thin toenail... |
ORPHA:2228 |
| Suleiman-El-Hattab Syndrome |
|
Thick eyebrow, Highly arched eyebrow, Cryptorchidism, Synophrys, Frontal hirsutism, Failure to th... |
OMIM:618950 |
| Igg4-Related Ophthalmic Disease |
|
Eosinophilia, Cholangitis, Abnormality of the kidney, Orchitis, Retroperitoneal fibrosis, Increas... |
ORPHA:449563 |
| Trisomy 17P |
|
Skeletal muscle atrophy, Hypoplasia of penis, Urethral valve, Short stature, Patent ductus arteri... |
ORPHA:261290 |
| Crimean-Congo Hemorrhagic Fever |
|
Hyperhidrosis, Leukopenia, Increased circulating IgG level, Cholecystitis, Hepatomegaly, Neutroph... |
ORPHA:99827 |
| Tonne-Kalscheuer Syndrome |
|
Hypospadias, Short stature, Congenital diaphragmatic hernia, Concave nail, Tremor, Cryptorchidism... |
OMIM:300978 |
| Mogs-Cdg |
|
Hepatomegaly, Alopecia, Fair hair, Inappropriate antidiuretic hormone secretion, External genital... |
ORPHA:79330 |
| X-Linked Intellectual Disability Due To Gria3 Mutations |
|
Facial hypotonia, Short stature, Cryptorchidism, Babinski sign, Spasticity, Myoclonus, Micropenis... |
ORPHA:364028 |
| Primary Sjögren Syndrome |
|
Normocytic anemia, Myositis, Chronic active hepatitis, Chorea, Xerostomia, Leukopenia, Tubulointe... |
ORPHA:289390 |
| Igg4-Related Dacryoadenitis And Sialadenitis |
|
Myositis, Increased circulating IgG4 level, Increased circulating IgA level, Retroperitoneal fibr... |
ORPHA:79078 |
| Mucopolysaccharidosis, Type Iiib |
|
Hepatomegaly, Heparan sulfate excretion in urine, Splenomegaly, Synophrys, Coarse hair, Hirsutism |
OMIM:252920 |
| Tarp Syndrome |
|
Extramedullary hematopoiesis, Abnormal hair pattern, Cryptorchidism, Horseshoe kidney, Athetoid c... |
ORPHA:2886 |
| Bilateral Perisylvian Polymicrogyria |
|
Lower limb spasticity, Ectopic posterior pituitary, Paraparesis, Oromotor apraxia, Flexion contra... |
ORPHA:98889 |
| Poliomyelitis |
|
Skeletal muscle atrophy, Hypoplasia of the musculature, Paralysis, Paraparesis, Abnormal skeletal... |
ORPHA:2912 |
| Flynn-Aird Syndrome |
|
Hyperkeratosis, Alopecia, Alopecia of scalp, Ataxia |
OMIM:136300 |
| Giant Axonal Neuropathy |
|
Facial palsy, Babinski sign, Abnormal pituitary gland morphology, Spasticity, Woolly hair, Limb m... |
ORPHA:643 |
| Celiac Disease, Susceptibility To, 1 |
|
Macrocytic anemia, Alopecia, Ataxia, Short stature, Postnatal growth retardation, Thyroiditis, We... |
OMIM:212750 |
| Sin3A-Related Intellectual Disability Syndrome Due To A Point Mutation |
|
Fragile nails, Fine hair |
ORPHA:500166 |
| 8P23.1 Duplication Syndrome |
|
Adrenal insufficiency, Hydronephrosis, Highly arched eyebrow |
ORPHA:251076 |
| Cerebellar Ataxia-Ectodermal Dysplasia Syndrome |
|
Sparse hair, Cryptorchidism, Ataxia, Fine hair |
ORPHA:1174 |
| Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency |
|
Hepatomegaly, Skeletal muscle atrophy, Short stature, Dysmenorrhea, Postnatal growth retardation,... |
ORPHA:79240 |
| Oculotrichoanal Syndrome |
|
Microphthalmia, Anophthalmia |
ORPHA:2717 |
| Wiedemann-Rautenstrauch Syndrome |
|
Flexion contracture, Hypertonia, Hypoplasia of the thymus, Generalized amyotrophy, Intention trem... |
OMIM:264090 |
| Acrokeratoderma, Hereditary Papulotranslucent |
|
Fine hair |
OMIM:101840 |
| Mgat2-Cdg |
|
Impaired lymphocyte transformation with phytohemagglutinin, Decreased circulating IgG level, Abno... |
ORPHA:79329 |
| Cerebrotendinous Xanthomatosis |
|
Resting tremor, Ataxia, Parkinsonism, Paraparesis, Tendon xanthomatosis, Babinski sign, Abnormal ... |
ORPHA:909 |
| Intellectual Developmental Disorder With Or Without Epilepsy Or Cerebellar Ataxia |
|
Incoordination, Ataxia, Tremor, Cryptorchidism, Abnormal pyramidal sign, Eyelid myoclonus, Oculom... |
OMIM:618060 |
| Hsd10 Disease |
|
Elevated urinary 3-hydroxybutyric acid, Ataxia, Tremor, Rigidity, Postnatal growth retardation, C... |
ORPHA:391417 |
| Bloom Syndrome |
|
Small for gestational age, Elevated hemoglobin A1c, Decreased fertility in females, Postnatal gro... |
OMIM:210900 |
| Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome |
|
Hypoparathyroidism, Renal dysplasia, Renal insufficiency, Abnormality of T cell physiology, Diabe... |
ORPHA:2237 |
| Hyper-Igd Syndrome |
|
Neutrophilia, Increased circulating IgA level, Lymphadenitis, Leukocytosis, Splenomegaly, Lymphad... |
OMIM:260920 |
| Cerebrooculonasal Syndrome |
|
Anophthalmia |
ORPHA:66625 |
| Mucopolysaccharidosis, Type Iiia |
|
Hepatomegaly, Heparan sulfate excretion in urine, Splenomegaly, Synophrys, Coarse hair, Hirsutism |
OMIM:252900 |
| Schinzel-Giedion Midface Retraction Syndrome |
|
Ureteral stenosis, Hypospadias, Hydroureter, Small scrotum, Hyperconvex nail, Postnatal growth re... |
OMIM:269150 |
| Werner Syndrome |
|
Renal neoplasm, Skeletal muscle atrophy, Sparse scalp hair, Short stature, Abnormal hair whorl, D... |
ORPHA:902 |
| Angioma Serpiginosum, X-Linked |
|
Sparse hair, Hyperkeratosis, Nail dystrophy, Fine hair |
OMIM:300652 |
| Microphthalmia, Syndromic 5 |
|
Microphthalmia, Anophthalmia, Optic nerve hypoplasia |
OMIM:610125 |
| Isolated Succinate-Coq Reductase Deficiency |
|
Skeletal muscle atrophy, Severe short stature, Ataxia, Left ventricular hypertrophy, Spastic tetr... |
ORPHA:3208 |
| Renal Hypodysplasia/Aplasia 3 |
|
Renal dysplasia, Multicystic kidney dysplasia, Renal agenesis, Horseshoe kidney, Abnormality of t... |
OMIM:617805 |
| Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome |
|
Absent gallbladder, Curly hair, Failure to thrive in infancy, Bilateral renal dysplasia, Unilater... |
ORPHA:500150 |
| Keratoderma Hereditarium Mutilans |
|
Alopecia, Hypogonadotropic hypogonadism, Honeycomb palmoplantar hyperkeratosis, Hyperkeratosis, I... |
ORPHA:494 |
| Mirror Polydactyly-Vertebral Segmentation-Limbs Defects Syndrome |
|
Aplasia of the thymus, Short stature |
ORPHA:3004 |
| Microsporidiosis |
|
Myositis, Cholangitis, Abnormality of the spleen, Abnormality of the parathyroid gland, Lymphaden... |
ORPHA:2552 |
| Erdheim-Chester Disease |
|
Renal insufficiency, Ataxia, Dysuria, Hypogonadotropic hypogonadism, Retroperitoneal fibrosis, We... |
ORPHA:35687 |
| Hermansky-Pudlak Syndrome |
|
Renal insufficiency, Hypopigmentation of hair, Menometrorrhagia, Thickened skin, Weight loss, Hyp... |
ORPHA:79430 |
| Microphthalmia With Brain And Digit Anomalies |
|
Microphthalmia, Anophthalmia |
ORPHA:139471 |
| Solitary Median Maxillary Central Incisor |
|
Microphthalmia, Anophthalmia |
OMIM:147250 |
| Sjögren-Larsson Syndrome |
|
Short stature, Abnormal pyramidal sign, Spastic diplegia, Hyperkeratosis, Ichthyosis, Spasticity |
ORPHA:816 |
| Ritscher-Schinzel Syndrome 1 |
|
Hypospadias, Decreased response to growth hormone stimulation test, Adrenal hypoplasia, Low poste... |
OMIM:220210 |
| Cockayne Syndrome Type 2 |
|
Intrauterine growth retardation, Anophthalmia |
ORPHA:90322 |
| Congenital Primary Megaureter |
|
Abnormal penis morphology, Recurrent urinary tract infections, Abnormality of the upper urinary t... |
ORPHA:617 |
| Cat-Eye Syndrome |
|
Short stature, Renal hypoplasia/aplasia, Abnormal localization of kidney, Intrauterine growth ret... |
ORPHA:195 |
| Mucopolysaccharidosis, Type Iiic |
|
Hepatomegaly, Heparan sulfate excretion in urine, Splenomegaly, Synophrys, Coarse hair, Hirsutism... |
OMIM:252930 |
| Hardikar Syndrome |
|
Intrahepatic bile duct cysts, Cholangitis, Hepatic fibrosis, Vesicoureteral reflux, Bladder exstr... |
OMIM:301068 |
| Multiple Sulfatase Deficiency |
|
Hepatomegaly, Short stature, Splenomegaly, Coarse hair, Mucopolysacchariduria, Ichthyosis, Thick ... |
ORPHA:585 |
| Koolen-De Vries Syndrome |
|
Ureteral duplication, Hypopigmentation of hair, Hypospadias, Short stature, Abnormality of hair t... |
ORPHA:96169 |
| Mucoepithelial Dysplasia, Hereditary |
|
Alopecia, Eosinophilia, Hematuria, Coarse hair, Nail dystrophy, Follicular hyperkeratosis, Nail d... |
OMIM:158310 |
| Costello Syndrome |
|
Deep-set nails, Failure to thrive in infancy, Short stature, Abnormal fingernail morphology, Conc... |
ORPHA:3071 |
| Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis |
|
Abnormally low T cell receptor excision circle level, Macrocytic anemia, Neutrophilia, Urachal cy... |
OMIM:608203 |
| Crandall Syndrome |
|
Alopecia, Hypoplasia of penis, Brittle hair, Fine hair, Hypogonadism, Sparse body hair, Abnormal ... |
ORPHA:202 |
| Hidrotic Ectodermal Dysplasia, Halal Type |
|
Sparse scalp hair, Absent eyebrow, Abnormal fingernail morphology, Supernumerary nipple, Absent e... |
ORPHA:1809 |
| Simpson-Golabi-Behmel Syndrome |
|
Ureteral duplication, Hypoplasia of penis, Congenital diaphragmatic hernia, Hepatoblastoma, Hepat... |
ORPHA:373 |
| Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome |
|
Granulomatous cholangitis, Cholestasis, Abnormal intrahepatic bile duct morphology, Sclerosing ch... |
ORPHA:562639 |
| Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Intermediate Form |
|
Hyperkeratosis, Plantar hyperkeratosis, Nail dystrophy, Palmar hyperkeratosis |
ORPHA:79399 |
| Pneumocystosis |
|
Weight loss, Increased circulating antibody level, Abnormal neutrophil count |
ORPHA:723 |
| Recessive X-Linked Ichthyosis |
|
Hyperkeratosis, Cryptorchidism, Ichthyosis, Hypohidrosis |
ORPHA:461 |
| Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome |
|
Microphthalmia, Anophthalmia |
ORPHA:77298 |
| Short Stature, Optic Nerve Atrophy, And Pelger-Huet Anomaly |
|
Short stature, Postnatal growth retardation, Hyposegmentation of neutrophil nuclei, Fine hair, Th... |
OMIM:614800 |
| Myopathy, Epilepsy, And Progressive Cerebral Atrophy |
|
Thymus hyperplasia, Type 1 muscle fiber atrophy, Type 2 muscle fiber predominance, Congenital con... |
OMIM:619036 |
| Webb-Dattani Syndrome |
|
Neurogenic bladder, Short stature, Decreased response to growth hormone stimulation test, Anterio... |
OMIM:615926 |
| Granulomatosis With Polyangiitis |
|
Glomerulopathy, Renal insufficiency, Ureteral stenosis, Proteinuria, Diabetes insipidus, Weight l... |
ORPHA:900 |
| Localized Dystrophic Epidermolysis Bullosa, Pretibial Form |
|
Abnormal fingernail morphology, Growth delay, Anonychia, Abnormality of the urinary system, Palmo... |
ORPHA:79410 |
| Macrothrombocytopenia-Lymphedema-Developmental Delay-Facial Dysmorphism-Camptodactyly Syndrome |
|
Hypospadias, Unilateral renal agenesis, Increased mean platelet volume, Abnormality of the endocr... |
ORPHA:487796 |
| Iga Pemphigus |
|
Monoclonal elevation of circulating IgA, Eosinophilia, Acantholysis, Increased circulating IgA le... |
ORPHA:555905 |
| Liver Disease, Severe Congenital |
|
Dry hair, Biliary hyperplasia, Leukopenia, Aminoaciduria, Lymphocytosis, Elevated hepatic iron co... |
OMIM:619991 |
| Acquired Ichthyosis |
|
Hyperkeratosis, Renal insufficiency, Palmoplantar keratoderma, Ichthyosis |
ORPHA:454 |
| Hypermanganesemia With Dystonia 1 |
|
Hepatomegaly, Parkinsonism, Tremor, Rigidity, Bradykinesia, Poor fine motor coordination, Abnorma... |
OMIM:613280 |
| Intellectual Disability-Balding-Patella Luxation-Acromicria Syndrome |
|
Decreased muscle mass, External genital hypoplasia, Frontal balding, Early balding, Dysmetria, Ha... |
ORPHA:3041 |
| Hawkinsinuria |
|
4-hydroxyphenylacetic aciduria, 4-Hydroxyphenylpyruvic aciduria, Fine hair, Sparse hair, Failure ... |
ORPHA:2118 |
| 2P15P16.1 Microdeletion Syndrome |
|
Decreased testicular size, Lower limb spasticity, Multicystic kidney dysplasia, Facial palsy, Sup... |
ORPHA:261349 |
| Ichthyosis, Congenital, Autosomal Recessive 2 |
|
Anhidrosis, Alopecia, External genital hypoplasia, Hypergranulosis, Paralysis, Thin nail, Abnorma... |
OMIM:242100 |
| Congenital Disorder Of Glycosylation, Type Ia |
|
Decreased circulating IgG level, Hepatomegaly, Premature ovarian insufficiency, Proteinuria, Atax... |
OMIM:212065 |
| Zellweger Syndrome |
|
Hepatomegaly, Multicystic kidney dysplasia, Hypospadias, Short stature, Cryptorchidism, Jaundice,... |
ORPHA:912 |
| Chromosome 2P16.1-P15 Deletion Syndrome |
|
Decreased testicular size, Short stature, Postnatal growth retardation, Cryptorchidism, Spasticit... |
OMIM:612513 |
| Bone Fragility With Contractures, Arterial Rupture, And Deafness |
|
Contracture of the proximal interphalangeal joint of the 2nd finger, Thenar muscle atrophy, Postn... |
OMIM:612394 |
| Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Impaired Intellectual Development, And Ear Anomalies Syndrome |
|
Duplicated collecting system, Hepatomegaly, Highly arched eyebrow, Large for gestational age, Pal... |
OMIM:280000 |
| Hemophagocytic Syndrome Associated With An Infection |
|
Hepatomegaly, Pancytopenia, Ataxia, Splenomegaly, Abnormal T cell subset distribution, Abnormal c... |
ORPHA:158048 |
| Fibrosis, Neurodegeneration, And Cerebral Angiomatosis |
|
Decreased circulating IgG level, Hemolytic anemia, Reticulocytosis, Hepatomegaly, Failure to thri... |
OMIM:618278 |
| Silver-Russell Syndrome Due To 7P11.2P13 Microduplication |
|
Short stature, Small for gestational age, Postnatal growth retardation, Hyperhidrosis, Fine hair,... |
ORPHA:231137 |
| Vacterl With Hydrocephalus |
|
Anophthalmia, Spina bifida, Polyhydramnios, Microphthalmia, Intrauterine growth retardation |
ORPHA:3412 |
| Spastic Paraplegia 48, Autosomal Recessive |
|
Lower limb spasticity, Ataxia, Parkinsonism, Urinary incontinence, Spastic paraplegia, Dysmetria,... |
OMIM:613647 |
| Autosomal Recessive Spastic Paraplegia Type 11 |
|
Ataxia, Parkinsonism, Overweight, Paraparesis, Obesity, Generalized limb muscle atrophy, Distal a... |
ORPHA:2822 |
| Distal Duplication 6P |
|
Abnormal hair quantity, Short stature, Abnormal eyelash morphology, Renal hypoplasia, Fine hair, ... |
ORPHA:1745 |
| Diabetic Embryopathy |
|
Ureteral duplication, Renal hypoplasia/aplasia, Cryptorchidism, Abnormality of the pancreas, Apla... |
ORPHA:1926 |
| Zaki Syndrome |
|
Sparse scalp hair, Renal agenesis, Short stature, Congenital diaphragmatic hernia, Hypoplastic to... |
OMIM:619648 |
| Distal Triplication 15Q |
|
Abnormal external genitalia, Abnormality of the kidney, Large for gestational age, Patent ductus ... |
ORPHA:314588 |
| Schopf-Schulz-Passarge Syndrome |
|
Ridged nail, Narrow nail, Thin nail, Poroma, Hyperkeratosis, Palmoplantar keratoderma, Onycholysi... |
OMIM:224750 |
| Lipoid Proteinosis Of Urbach And Wiethe |
|
Hyperkeratosis, Thickened skin, Patchy alopecia |
OMIM:247100 |
| Microphthalmia With Limb Anomalies |
|
Microphthalmia, Anophthalmia |
OMIM:206920 |
| Costello Syndrome |
|
Deep-set nails, Curly hair, Renal insufficiency, Short stature, Thin nail, Rhabdomyosarcoma, Conc... |
OMIM:218040 |
| Cardiofaciocutaneous Syndrome |
|
Brittle hair, Failure to thrive in infancy, Short stature, Slow-growing hair, Abnormal eyelash mo... |
ORPHA:1340 |
| Fryns Syndrome |
|
Bifid scrotum, Ureteral duplication, Ectopic pancreatic tissue, Hypospadias, Renal agenesis, Larg... |
OMIM:229850 |
| Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities |
|
Calcinosis, Splenomegaly, Renal hypoplasia, Nephrocalcinosis, Growth delay, Aminoaciduria, Renal ... |
OMIM:617913 |
| Mast Syndrome |
|
Incoordination, Babinski sign, Spastic paraplegia, Athetosis, Dysdiadochokinesis, Hypertonia, Spa... |
OMIM:248900 |
| Severe Generalized Junctional Epidermolysis Bullosa |
|
Urethral stricture, Paronychia, Renal cyst, Aplasia/Hypoplasia of the bladder, Ureterocele, Abnor... |
ORPHA:79404 |
| Aicardi-Goutieres Syndrome 7 |
|
Hemolytic anemia, Pancytopenia, Generalized lymphadenopathy, Hepatomegaly, Lower limb spasticity,... |
OMIM:615846 |
| Igg4-Related Thyroid Disease |
|
Pancreatic fibrosis, Increased circulating IgG4 level, Retroperitoneal fibrosis, Thyrotoxicosis w... |
ORPHA:64744 |
| Oculodentodigital Dysplasia |
|
Neurogenic bladder, Dry hair, Ataxia, Slow-growing hair, Paraparesis, Fine hair, Tetraparesis, Jo... |
OMIM:164200 |
| Primary Microcephaly-Mild Intellectual Disability-Young-Onset Diabetes Syndrome |
|
Diabetes mellitus, Small for gestational age, Proportionate short stature, Synophrys, Low anterio... |
ORPHA:391408 |
| Arachnoid Cyst |
|
Urinary incontinence, Facial palsy, Abnormality of the endocrine system, Paraparesis, Slurred spe... |
ORPHA:2356 |
| Micro Syndrome |
|
Hypoplasia of penis, Short stature, Cryptorchidism, Hypoplastic labia minora, Abnormal localizati... |
ORPHA:2510 |
| Autosomal Dominant Spastic Paraplegia Type 73 |
|
Distal lower limb amyotrophy, Lower limb spasticity, Urinary incontinence, Progressive spastic pa... |
ORPHA:444099 |
| Al Amyloidosis |
|
Hepatomegaly, Renal insufficiency, Howell-Jolly bodies, Abnormality of the kidney, Proteinuria, R... |
ORPHA:85443 |
| Neurodegeneration With Developmental Delay, Early Respiratory Failure, Myoclonic Seizures, And Brain Abnormalities |
|
Exaggerated startle response, Limb joint contracture, Tremor, Cryptorchidism, Patent ductus arter... |
OMIM:620327 |
| Ichthyosis, Congenital, Autosomal Recessive 5 |
|
Parakeratosis, Acanthocytosis, Palmoplantar keratoderma, Congenital nonbullous ichthyosiform eryt... |
OMIM:604777 |
| Gaisböck Syndrome |
|
Diabetes mellitus, Overweight, Splenomegaly, Increased mean corpuscular hemoglobin concentration,... |
ORPHA:90041 |
| Pyoderma Gangrenosum |
|
Myeloid leukemia, Increased circulating antibody level, Myositis |
ORPHA:48104 |
| Prune Belly Syndrome |
|
Hydroureter, Cryptorchidism, Patent ductus arteriosus, Xerostomia, Aplasia of the abdominal wall ... |
OMIM:100100 |
| Craniofrontonasal Dysplasia |
|
Hypospadias, Camptodactyly of finger, Congenital diaphragmatic hernia, Abnormality of hair textur... |
ORPHA:1520 |
| Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies |
|
Appendicular spasticity, Unilateral renal agenesis, Cryptorchidism, Renal hypoplasia, Hydronephrosis |
OMIM:618494 |
| Vacterl/Vater Association |
|
Bifid scrotum, Hypoplasia of penis, Multicystic kidney dysplasia, Hypospadias, Renal agenesis, Co... |
ORPHA:887 |
| Ichthyosis-Alopecia-Eclabion-Ectropion-Intellectual Disability Syndrome |
|
Congenital alopecia totalis, Tetraplegia/tetraparesis, Rigidity, Sparse eyebrow, Paraplegia, Abse... |
ORPHA:2269 |
| Pallister-Hall Syndrome |
|
Thyroid dysgenesis, Decreased circulating cortisol level, Decreased response to growth hormone st... |
OMIM:146510 |
| X-Linked Dominant Chondrodysplasia Punctata |
|
Short stature, Sparse eyelashes, Abnormal hair pattern, Sparse eyebrow, Scarring alopecia of scal... |
ORPHA:35173 |
| Alpha-N-Acetylgalactosaminidase Deficiency Type 1 |
|
Hepatomegaly, Hemiplegia/hemiparesis, Abnormal pyramidal sign, Hyperkeratosis, Abnormality of ext... |
ORPHA:79279 |
| Leprechaunism |
|
Skeletal muscle atrophy, Nephrocalcinosis, Increased circulating renin level, Acanthosis nigrican... |
ORPHA:508 |
| Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome |
|
Hepatomegaly, Clonus, Poor coordination, Abnormal pyramidal sign, Spastic gait, Dysmetria, Spasti... |
OMIM:238970 |
| 1P36 Deletion Syndrome |
|
Hypoplasia of penis, Abnormality of the spleen, Renal cyst, Abnormality of the liver, Hypothyroid... |
ORPHA:1606 |
| X-Linked Intellectual Disability-Craniofacioskeletal Syndrome |
|
Absent gallbladder, Hypospadias, Short stature, Cryptorchidism, Patent ductus arteriosus, Anemia,... |
ORPHA:163979 |
| Trisomy 20P |
|
Incoordination, Hypospadias, Abnormality of the kidney, Camptodactyly of finger, Highly arched ey... |
ORPHA:261318 |
| Rubinstein-Taybi Syndrome 1 |
|
Premature thelarche, Bilateral cryptorchidism, Flexion contracture, Low anterior hairline, Papill... |
OMIM:180849 |
| Immunodeficiency 67 |
|
Liver abscess, Transient neutropenia, Increased circulating IgE level |
OMIM:607676 |
| Tetragametic Chimerism |
|
Bifid scrotum, Blood group antigen abnormality, True hermaphroditism, Ovotestis, Cryptorchidism, ... |
ORPHA:199310 |
| Lysinuric Protein Intolerance |
|
Decreased response to growth hormone stimulation test, Leukopenia, Tubulointerstitial nephritis, ... |
ORPHA:470 |
| Adrenomyeloneuropathy |
|
Female sexual dysfunction, Distal lower limb muscle weakness, Urinary incontinence, Frontal baldi... |
ORPHA:139399 |
| Osteopetrosis, Autosomal Recessive 9 |
|
Stage 3 chronic kidney disease, Hyperparathyroidism, Postnatal growth retardation, Anemia |
OMIM:620366 |
| Proteus-Like Syndrome |
|
Splenomegaly, Abnormality of the parathyroid gland, Thymus hyperplasia, Polycystic ovaries |
ORPHA:2969 |
| Erythrokeratodermia Variabilis Et Progressiva 4 |
|
Congenital nonbullous ichthyosiform erythroderma, Hyperkeratosis, Palmoplantar hyperkeratosis |
OMIM:617526 |
| Congenital Bile Acid Synthesis Defect Type 2 |
|
Dark urine, Giant cell hepatitis, Hepatomegaly, Extramedullary hematopoiesis, Postnatal growth re... |
ORPHA:79303 |
| Müllerian Aplasia And Hyperandrogenism |
|
Thick eyebrow, Renal agenesis, Short stature, Frontal balding, Synophrys, Obesity, Primary amenor... |
ORPHA:247768 |
| 8P Inverted Duplication/Deletion Syndrome |
|
Small hypothenar eminence, Frontal balding, Precocious puberty, Cryptorchidism, Synophrys, Spasti... |
ORPHA:96092 |
| Spastic Paraplegia 20, Autosomal Recessive |
|
Lower limb spasticity, Short stature, Babinski sign, Spastic paraplegia, Flexion contracture, Dys... |
OMIM:275900 |
| Stromme Syndrome |
|
Accessory spleen, Bilateral renal hypoplasia, Myopathy, Stillbirth, Hydronephrosis |
OMIM:243605 |
| Manitoba Oculotrichoanal Syndrome |
|
Microphthalmia, Anophthalmia |
OMIM:248450 |
| Mucopolysaccharidosis, Type Vii |
|
Hepatomegaly, Thick eyebrow, Severe short stature, Short stature, Diastasis recti, Heparan sulfat... |
OMIM:253220 |
| 3-Methylglutaconic Aciduria Type 3 |
|
Choreoathetosis, 3-Methylglutaconic aciduria, Ataxia, Spastic paraparesis |
ORPHA:67047 |
| Chime Syndrome |
|
Abnormality of the kidney, Acute leukemia, Fine hair, Hyperkeratosis, Ichthyosis, Sparse hair, Hy... |
ORPHA:3474 |
| Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects |
|
Thyroid hypoplasia, Parakeratosis, Alopecia, Short stature, Adrenal hypoplasia, Unilateral renal ... |
OMIM:308050 |
| Microcephalic Osteodysplastic Primordial Dwarfism Type Ii |
|
Precocious puberty, Patent ductus arteriosus, Disproportionate short stature, Fine hair, Truncal ... |
ORPHA:2637 |
| Cockayne Syndrome Type 3 |
|
Hepatomegaly, Renal insufficiency, Neurogenic bladder, Hydroureter, Skeletal muscle atrophy, Unil... |
ORPHA:90324 |
| Walker-Warburg Syndrome |
|
Microphthalmia, Anophthalmia |
ORPHA:899 |
| Jacobsen Syndrome |
|
Multicystic kidney dysplasia, Short stature, Cryptorchidism, Growth delay, Aplasia/Hypoplasia of ... |
ORPHA:2308 |
| Brain Malformation-Congenital Heart Disease-Postaxial Polydactyly Syndrome |
|
Alopecia, Brittle hair, Short stature, Abnormality of the anterior pituitary, Renal hypoplasia, C... |
ORPHA:75389 |
| Joubert Syndrome 35 |
|
Multicystic kidney dysplasia, Recurrent urinary tract infections, Ataxia, Highly arched eyebrow, ... |
OMIM:618161 |
| Early-Onset Progressive Encephalopathy-Spastic Ataxia-Distal Spinal Muscular Atrophy Syndrome |
|
Hypoparathyroidism, Spastic ataxia, Spinal muscular atrophy, Spastic tetraparesis, Progressive sp... |
ORPHA:496756 |
| Noonan Syndrome-Like Disorder With Or Without Juvenile Myelomonocytic Leukemia |
|
Juvenile myelomonocytic leukemia, Short stature, Highly arched eyebrow, Postnatal growth retardat... |
OMIM:613563 |
| Diamond-Blackfan Anemia 21 |
|
Short stature, Erythroid hypoplasia, Synophrys, Widow's peak, Obesity, Anemia, Coarse hair, Horiz... |
OMIM:620072 |
| Acne Inversa, Familial, 2, With Or Without Dowling-Degos Disease |
|
Recurrent cutaneous abscess formation, Follicular hyperkeratosis |
OMIM:613736 |
| Epidermolysis Bullosa Dystrophica, Pretibial |
|
Hyperkeratosis, Nail dystrophy |
OMIM:131850 |
| Schinzel-Giedion Syndrome |
|
Streak ovary, Failure to thrive in infancy, Nephroblastoma, Hypospadias, Generalized hypertrichos... |
ORPHA:798 |
| Japanese Encephalitis |
|
Skeletal muscle atrophy, Neutrophilia, Weakness due to upper motor neuron dysfunction, Facial pal... |
ORPHA:79139 |
| Koolen-De Vries Syndrome |
|
Recurrent urinary tract infections, Fair hair, Small for gestational age, Short stature, Abnormal... |
OMIM:610443 |
| 6P22 Microdeletion Syndrome |
|
Patent ductus arteriosus, Hydronephrosis |
ORPHA:251046 |
| Hennekam Lymphangiectasia-Lymphedema Syndrome 1 |
|
Pericardial lymphangiectasia, Mild postnatal growth retardation, Thyroid lymphangiectasia, Ectopi... |
OMIM:235510 |
| Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 3 |
|
Absence of Stensen duct, Decreased response to growth hormone stimulation test, Xerostomia, Trans... |
OMIM:604292 |
| Sulfite Oxidase Deficiency, Isolated |
|
Sulfocysteinuria, Ataxia, Increased urinary sulfite level, Fine hair, Choreoathetosis, Hypertonia... |
OMIM:272300 |
| Ullrich Congenital Muscular Dystrophy 1 |
|
Torticollis, Reduced muscle collagen VI, Facial palsy, Flexion contracture, Hyperhidrosis, Congen... |
OMIM:254090 |
| Tubulointerstitial Nephritis And Uveitis Syndrome |
|
Normocytic anemia, Renal neutrophilic tubulitis, Renal interstitial edema, Weight loss, Sterile p... |
ORPHA:91500 |
| Spinocerebellar Ataxia 40 |
|
Ataxia, Tremor, Dysmetria, Gait ataxia, Ankle clonus, Dysdiadochokinesis, Spastic paraparesis, In... |
OMIM:616053 |
| Scheie Syndrome |
|
Hepatomegaly, Cerebral palsy, Splenomegaly, Mucopolysacchariduria, Spastic paraparesis |
ORPHA:93474 |
| Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome |
|
Hepatomegaly, Portal hypertension, Rigidity, Splenomegaly, Micronodular cirrhosis, Jaundice, Copp... |
ORPHA:309854 |
| Spastic Paraplegia 75, Autosomal Recessive |
|
Distal lower limb amyotrophy, Babinski sign, Abnormal pyramidal sign, Dysmetria, Spastic dysarthr... |
OMIM:616680 |
| Genitopatellar Syndrome |
|
Hip contracture, Multicystic kidney dysplasia, Small scrotum, Short stature, Sparse scalp hair, C... |
ORPHA:85201 |
| Aicardi-Goutières Syndrome |
|
Myositis, Extrapyramidal muscular rigidity, Multiple joint contractures, Diabetes mellitus, Short... |
ORPHA:51 |
| Urofacial Syndrome 1 |
|
Recurrent urinary tract infections, Hydroureter, Urethral valve, Cryptorchidism, Urethral obstruc... |
OMIM:236730 |
| Polyendocrine-Polyneuropathy Syndrome |
|
Ataxia, Elevated hemoglobin A1c, Anterior pituitary hypoplasia, Hypogonadotropic hypogonadism, Sh... |
OMIM:616113 |
| Congenital Alveolar Capillary Dysplasia |
|
Absent gallbladder, Asplenia, Patent ductus arteriosus, Annular pancreas, Hydronephrosis |
ORPHA:210122 |
| Noonan Syndrome |
|
Abnormal hair quantity, Hepatomegaly, Hypogonadotropic hypogonadism, Short stature, Abnormality o... |
ORPHA:648 |
| Keratoderma Hereditarium Mutilans With Ichthyosis |
|
Parakeratosis, Alopecia, Hypergranulosis, Honeycomb palmoplantar hyperkeratosis, Palmoplantar hyp... |
ORPHA:79395 |
| Kleefstra Syndrome |
|
Hypoplasia of penis, Renal insufficiency, Hypospadias, Short stature, Supernumerary nipple, Highl... |
ORPHA:261494 |
| Myelopathy, Htlv-1-Associated |
|
Abnormal pyramidal sign, Spastic paraparesis |
OMIM:159580 |
| Peroxisome Biogenesis Disorder 8B |
|
Lower limb spasticity, Ataxia, Clonus, Rigidity, Babinski sign, Limb tremor, Dysmetria, Gait atax... |
OMIM:614877 |
| Ichthyotic Keratoderma, Spasticity, Hypomyelination, And Dysmorphic Facial Features |
|
Neurogenic bladder, Parakeratosis, Ataxia, Tremor, Babinski sign, Xerostomia, Spastic paraplegia,... |
OMIM:618527 |
| Ectodermal Dysplasia-Syndactyly Syndrome 2 |
|
Hyperhidrosis, Palmoplantar keratoderma, Follicular hyperkeratosis, Congenital bullous ichthyosif... |
OMIM:613576 |
| Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease |
|
Torticollis, White eyelashes, Ataxia, White eyebrow, Portal hypertension, Cryptorchidism, Spastic... |
OMIM:609136 |
| Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2 |
|
Increased circulating interleukin 6 concentration, Perianal abscess, Weight loss, Iron deficiency... |
OMIM:301074 |
| Chromosome 17Q12 Deletion Syndrome |
|
Renal cyst, Multicystic kidney dysplasia, Short stature, Highly arched eyebrow, Sparse eyebrow, C... |
OMIM:614527 |
| Chand Syndrome |
|
Curly hair, Nail dysplasia |
OMIM:214350 |
| Smith-Lemli-Opitz Syndrome |
|
Bifid scrotum, Small scrotum, Renal cyst, Hypertonia, Micropenis, Hepatic steatosis, Penoscrotal ... |
OMIM:270400 |
| Hypohidrotic Ectodermal Dysplasia-Hypothyroidism-Ciliary Dyskinesia Syndrome |
|
Sparse scalp hair, Alopecia, Short stature, Sparse eyebrow, Hypohidrosis, Fine hair, Dystrophic f... |
ORPHA:1882 |
| Hypotrichosis With Juvenile Macular Degeneration |
|
Sparse scalp hair, Brittle hair, Short stature, Fine hair, Hyperkeratosis, Pili torti |
ORPHA:1573 |
| Hypohidrotic Ectodermal Dysplasia |
|
Abnormal hair quantity, Slow-growing hair, Xerostomia, Hypohidrosis, Nephrotic syndrome, Hyperker... |
ORPHA:238468 |
| Kyphoscoliotic Ehlers-Danlos Syndrome Due To Fkbp22 Deficiency |
|
Skeletal muscle atrophy, Myopathy, Follicular hyperkeratosis |
ORPHA:300179 |
| Gaucher Disease Type 3 |
|
Hepatomegaly, Pancytopenia, Proteinuria, Ataxia, Splenomegaly, Anemia, Hematuria, Growth delay, I... |
ORPHA:77261 |
| Leprosy |
|
Skeletal muscle atrophy, Absent eyebrow, Alopecia, Abnormality of the spleen, Testicular mass, Lo... |
ORPHA:548 |
| Sarcoidosis, Susceptibility To, 1 |
|
Hepatomegaly, Pancytopenia, Generalized lymphadenopathy, Abnormality of T cell physiology, Medias... |
OMIM:181000 |
| 19Q13.11 Microdeletion Syndrome |
|
Bifid scrotum, Hypospadias, Cachexia, Supernumerary nipple, Cryptorchidism, Fine hair, Growth del... |
ORPHA:217346 |
| Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 1 |
|
Renal dysplasia, Ureteral duplication, Ureteral hypoplasia, Congenital diaphragmatic hernia, Blad... |
OMIM:614080 |
| Ileal Neuroendocrine Tumor |
|
Extrahepatic cholestasis, Weight loss, Lymphadenopathy, Iron deficiency anemia, Small intestine c... |
ORPHA:100078 |
| Secondary Intestinal Lymphangiectasia |
|
Decreased circulating IgG1 level, Decreased circulating antibody level, Decreased circulating tot... |
ORPHA:90363 |
| Ramon Syndrome |
|
Hyperkeratosis, Diabetes mellitus, Failure to thrive, Generalized hirsutism |
ORPHA:3019 |
| Hurler Syndrome |
|
Hepatomegaly, Cerebral palsy, Short stature, Abnormality of the tonsils, Camptodactyly of finger,... |
ORPHA:93473 |
| Charge Syndrome |
|
Decreased response to growth hormone stimulation test, External genital hypoplasia, Gonadotropin ... |
OMIM:214800 |
| Q Fever |
|
Hepatomegaly, Splenomegaly, Hepatitis, Lymphadenopathy, Anemia, Hepatosplenomegaly, Abnormality o... |
ORPHA:781 |
| Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1 |
|
Absence of Stensen duct, Decreased response to growth hormone stimulation test, Xerostomia, Trans... |
OMIM:129900 |
| 2Q32Q33 Microdeletion Syndrome |
|
Short stature, Fine hair, Growth delay, Sparse hair, Decreased testicular size |
ORPHA:251019 |
| Peroxisome Biogenesis Disorder 1A (Zellweger) |
|
Intrahepatic biliary dysgenesis, Hepatomegaly, Hypospadias, Adrenal hypoplasia, Cryptorchidism, P... |
OMIM:214100 |
| X-Linked Female Restricted Facial Dysmorphism-Short Stature-Choanal Atresia-Intellectual Disability |
|
Curly hair, Short stature, Cyst of the ductus choledochus, Abnormal circulating thyroid hormone c... |
ORPHA:480880 |
| Rapp-Hodgkin Syndrome |
|
Hypospadias, Short stature, Supernumerary nipple, Sparse eyelashes, Sparse eyebrow, Slow-growing ... |
OMIM:129400 |
| Renal Caliceal Diverticuli-Deafness Syndrome |
|
Hydroureter, Abnormality of the kidney, Abnormality of the upper urinary tract, Abnormality of th... |
ORPHA:2838 |
| Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency |
|
Incoordination, Ataxia, Short stature, Cryptorchidism, Low anterior hairline, Macroglossia, Arthr... |
ORPHA:369891 |
| Ichthyosis, Hystrix-Like, With Deafness |
|
Sparse scalp hair, Sparse eyelashes, Absent eyelashes, Scarring alopecia of scalp, Sparse eyebrow... |
OMIM:602540 |
| Hereditary Mucoepithelial Dysplasia |
|
Alopecia, Abnormality of the bladder, Hematuria, Hyperkeratosis, Fine hair, Sparse hair, Abnormal... |
ORPHA:1839 |
| Lymphangiectasia, Pulmonary, Congenital |
|
Palpebral edema, Nonimmune hydrops fetalis, Polyhydramnios, Edema, Facial edema, Chylous ascites,... |
OMIM:265300 |
| Immunodeficiency 58 |
|
Recurrent cutaneous abscess formation, Short stature, Dysuria, Decreased circulating antibody lev... |
OMIM:618131 |
| Distal Deletion 12Q |
|
Diabetes mellitus, Unilateral cryptorchidism, Failure to thrive in infancy, Maturity-onset diabet... |
ORPHA:96149 |
| Craniometadiaphyseal Dysplasia, Wormian Bone Type |
|
Curly hair |
ORPHA:85184 |
| Autosomal Recessive Spastic Paraplegia Type 20 |
|
Speech apraxia, Skeletal muscle atrophy, Short stature, Dysuria, Babinski sign, Slurred speech, S... |
ORPHA:101000 |
| Mucopolysaccharidosis, Type Iiid |
|
Hepatomegaly, Thick eyebrow, Short stature, Heparan sulfate excretion in urine, Splenomegaly, Ach... |
OMIM:252940 |
| Cockayne Syndrome A |
|
Hepatomegaly, Renal insufficiency, Anhidrosis, Proteinuria, Ataxia, Hip contracture, Short statur... |
OMIM:216400 |
| Bethlem Myopathy |
|
Scapular winging, Multiple joint contractures, Reduced muscle collagen VI, Interphalangeal joint ... |
ORPHA:610 |
| Osteopetrosis, Autosomal Recessive 7 |
|
Hepatomegaly, Splenomegaly, Growth delay, Decreased circulating total IgM, Decreased circulating ... |
OMIM:612301 |
| Kabuki Syndrome 1 |
|
Ureteropelvic junction obstruction, Hemolytic anemia, Crossed fused renal ectopia, Short stature,... |
OMIM:147920 |
| Muscular Dystrophy, Congenital, Davignon-Chauveau Type |
|
Angulated muscle fibers, Centrally nucleated skeletal muscle fibers, Muscular dystrophy, Follicul... |
OMIM:617066 |
| Ulerythema Ophryogenesis |
|
Hyperkeratotic papule, Follicular hyperkeratosis, Sparse lateral eyebrow |
ORPHA:3406 |
| Choroidal Atrophy-Alopecia Syndrome |
|
Abnormal fingernail morphology, Supernumerary nipple, Bifid nail, Fine hair, Sparse or absent eye... |
ORPHA:1433 |
| Fabry Disease |
|
Glomerulopathy, Renal insufficiency, Proteinuria, Short stature, Hypohidrosis, Hematuria, Nephrot... |
ORPHA:324 |
| Intellectual Disability-Polydactyly-Uncombable Hair Syndrome |
|
Hypoplasia of penis, Short stature, Slow-growing hair, Abnormal hair morphology, Cryptorchidism, ... |
ORPHA:3082 |
| Primary Sclerosing Cholangitis |
|
Abnormal eosinophil morphology, Hepatic fibrosis, Generalized amyotrophy, Neoplasm of the gallbla... |
ORPHA:171 |
| Monilethrix |
|
Abnormal eyebrow morphology, Brittle hair, Slow-growing hair, Abnormal eyelash morphology, Fine h... |
ORPHA:573 |
| Paget Disease Of Bone 2, Early-Onset |
|
Hydroxyprolinuria, Paraparesis, Tetraparesis |
OMIM:602080 |
| Woolly Hair |
|
Hypopigmentation of hair, Brittle hair, Slow-growing hair, Abnormality of hair texture, Fine hair... |
ORPHA:170 |
| Ectodermal Dysplasia-Sensorineural Deafness Syndrome |
|
Brittle hair, Short stature, Camptodactyly of finger, Hyperkeratosis, Coarse hair, Joint contract... |
ORPHA:1883 |
| Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type |
|
Small for gestational age, Hypospadias, Flexion contracture, Intrauterine growth retardation, Mic... |
OMIM:616897 |
| Mucolipidosis Type Ii |
|
Hip contracture, Dry hair, Short stature, Diastasis recti, Postnatal growth retardation, Splenome... |
ORPHA:576 |
| Fucosidosis |
|
Hepatomegaly, Decreased muscle mass, Generalized hyperkeratosis, Abnormality of the gallbladder, ... |
ORPHA:349 |
| Koolen-De Vries Syndrome Due To A Point Mutation |
|
Hand muscle atrophy, Decreased response to growth hormone stimulation test, Fetal pyelectasis, Pi... |
ORPHA:363965 |
| 17Q21.31 Microdeletion Syndrome |
|
Hand muscle atrophy, Decreased response to growth hormone stimulation test, Fetal pyelectasis, Pi... |
ORPHA:363958 |
| Cockayne Syndrome B |
|
Hepatomegaly, Renal insufficiency, Anhidrosis, Small for gestational age, Proteinuria, Ataxia, Se... |
OMIM:133540 |
| Carvajal Syndrome |
|
Woolly hair, Patchy palmoplantar hyperkeratosis |
ORPHA:65282 |
| Microcephaly-Lymphedema-Chorioretinopathy Syndrome |
|
Anophthalmia, Edema, Lymphedema, Chylothorax, Microphthalmia, Pleural effusion |
ORPHA:2526 |
| Clouston Syndrome |
|
Alopecia, Brittle hair, Short stature, Sparse eyelashes, Alopecia totalis, Slow-growing hair, Spa... |
OMIM:129500 |
| Orofaciodigital Syndrome Xv |
|
Hydronephrosis |
OMIM:617127 |
| Monilethrix |
|
Alopecia, Brittle hair, Abnormality of hair texture, Perifollicular hyperkeratosis, Nail dystroph... |
OMIM:158000 |
| Cockayne Syndrome |
|
Skeletal muscle atrophy, Dry hair, Urinary incontinence, Progressive gait ataxia, Hypertonia, Con... |
ORPHA:191 |
| Ochoa Syndrome |
|
Recurrent urinary tract infections, Renal insufficiency, Urinary incontinence, Cryptorchidism, Ur... |
ORPHA:2704 |
| Cerebellar-Facial-Dental Syndrome |
|
Infancy onset short-trunk short stature, Severe short stature, Foot joint contracture, Sparse eye... |
ORPHA:444072 |
| Developmental Delay, Language Impairment, And Ocular Abnormalities |
|
Contracture of the proximal interphalangeal joint of the 5th finger, Short stature, Hydronephrosi... |
OMIM:620141 |
| Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation |
|
Flexion contracture of finger, Small for gestational age, Hypospadias, Unilateral renal agenesis,... |
ORPHA:464311 |
| Chondrodysplasia Punctata 2, X-Linked Dominant |
|
Rhizomelia, Sparse eyelashes, Postnatal growth retardation, Sparse eyebrow, Congenital ichthyosif... |
OMIM:302960 |
| Spastic Ataxia 4, Autosomal Recessive |
|
Spastic ataxia, Babinski sign, Limb ataxia, Gait ataxia, Lower limb hypertonia, Upper limb hypert... |
OMIM:613672 |
| 7Q11.23 Microduplication Syndrome |
|
Hypospadias, Short stature, Unilateral renal agenesis, Congenital diaphragmatic hernia, Cryptorch... |
ORPHA:96121 |
| Ichthyosis, Spastic Quadriplegia, And Impaired Intellectual Development |
|
Spastic tetraplegia, Growth delay, Hyperkeratosis, Congenital nonbullous ichthyosiform erythroder... |
OMIM:614457 |
| 9Q21.13 Microdeletion Syndrome |
|
Postnatal growth retardation, Cryptorchidism, Hydronephrosis |
ORPHA:531151 |
| Mitochondrial Complex I Deficiency, Nuclear Type 18 |
|
Hypertonia, Hydroureter, Hydronephrosis, Myoclonus |
OMIM:618240 |
| Autosomal Dominant Intellectual Disability-Craniofacial Anomalies-Cardiac Defects Syndrome |
|
Short stature, Cryptorchidism, Patent ductus arteriosus, Growth delay, Hydronephrosis |
ORPHA:457193 |
| Congenital Anomalies Of Kidney And Urinary Tract 3 |
|
Multicystic kidney dysplasia, Ectopic kidney, Renal hypoplasia, Vesicoureteral reflux, Hydronephr... |
OMIM:618270 |
| Czeizel-Losonci Syndrome |
|
Posterolateral diaphragmatic hernia, Ureteral agenesis, Abnormality of the urinary system, Congen... |
ORPHA:2437 |
| Developmental Delay With Or Without Dysmorphic Facies And Autism |
|
Small scrotum, Short stature, Supernumerary nipple, Congenital diaphragmatic hernia, Highly arche... |
OMIM:618454 |
| 22Q11.2 Duplication Syndrome |
|
Urethral stenosis, Growth delay, Aplasia/Hypoplasia of the thymus, Displacement of the urethral m... |
ORPHA:1727 |
| Chand Syndrome |
|
Curly hair, Hydroureter, Ataxia, Hypohidrosis, Nail dysplasia, Imperforate hymen |
ORPHA:1401 |
| Hyperphosphatasia-Intellectual Disability Syndrome |
|
Ataxia, Supernumerary nipple, Highly arched eyebrow, Growth delay, Myoclonus, Small nail, Oculomo... |
ORPHA:247262 |
| Trichohepatoenteric Syndrome 2 |
|
Hepatomegaly, Brittle hair, Small for gestational age, Woolly hair, Chronic hepatitis, Uncombable... |
OMIM:614602 |
| Renal Hypoplasia |
|
Renal insufficiency, Recurrent urinary tract infections, Small for gestational age, Proteinuria, ... |
ORPHA:93101 |
| Autosomal Recessive Spastic Ataxia-Optic Atrophy-Dysarthria Syndrome |
|
Babinski sign, Progressive cerebellar ataxia, Lower limb hypertonia, Progressive gait ataxia, Myo... |
ORPHA:254343 |
| Dyrk1A-Related Intellectual Disability Syndrome |
|
Multiple joint contractures, Small for gestational age, Anterior pituitary hypoplasia, Hypospadia... |
ORPHA:464306 |
| Truncus Arteriosus |
|
Patent ductus arteriosus, Hypoplasia of the thymus, Intrauterine growth retardation, Adrenocortic... |
ORPHA:3384 |
| Olmsted Syndrome 1 |
|
Subungual hyperkeratosis, Parakeratosis, Flexion contracture, Periorificial hyperkeratosis, Hyper... |
OMIM:614594 |
| Gaucher Disease |
|
Hepatomegaly, Pancytopenia, Proteinuria, Ataxia, Short stature, Tremor, Splenomegaly, Hemiplegia/... |
ORPHA:355 |
| Intellectual Developmental Disorder, X-Linked 99, Syndromic, Female-Restricted |
|
Renal dysplasia, Short stature, Abnormality of thyroid physiology, Patent ductus arteriosus, Unil... |
OMIM:300968 |
| Trisomy 18 |
|
Short stature, Camptodactyly of finger, Abnormality of the upper urinary tract, Cachexia, Congeni... |
ORPHA:3380 |
| Focal Segmental Glomerulosclerosis And Neurodevelopmental Syndrome |
|
Hypospadias, Glomerulonephritis, Proteinuria, Ataxia, Synophrys, Fine hair, Growth delay, Nephrot... |
OMIM:619428 |
| Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome |
|
Exaggerated startle response, Uterine prolapse, Short stature, Involuntary movements, Abnormality... |
ORPHA:438213 |
| Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome |
|
Absent nipple, Aplasia of the thymus, Facial palsy, Short stature, Sparse eyebrow, Congenital hyp... |
OMIM:620186 |
| Kury-Isidor Syndrome |
|
Growth delay, Alopecia, Hydronephrosis, Hypertrichosis |
OMIM:619762 |
| Spinocerebellar Ataxia Type 40 |
|
Dysmetria, Gait ataxia, Dysdiadochokinesis, Spastic paraparesis, Intention tremor |
ORPHA:423275 |
| Isotretinoin-Like Syndrome |
|
Postnatal growth retardation, Intrauterine growth retardation, Patent ductus arteriosus, Lymphopenia |
ORPHA:2306 |
| Tetraploidy |
|
Hydronephrosis, Intrauterine growth retardation, Aplasia/Hypoplasia of the thymus, Renal hypoplas... |
ORPHA:3305 |
| Neurodegeneration With Brain Iron Accumulation 6 |
|
Rigidity, Spastic tetraplegia, Bradykinesia, Distal amyotrophy, Spastic paraparesis |
OMIM:615643 |
| Toluene Embryopathy |
|
Cryptorchidism, Short stature, Hydronephrosis, Abnormal localization of kidney |
ORPHA:1920 |
| Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome |
|
Abnormal renal glomerulus morphology, Absent eyebrow, Renal insufficiency, Membranoproliferative ... |
OMIM:137940 |
| Fg Syndrome 3 |
|
Cryptorchidism, Fine hair, Frontal upsweep of hair, Sparse hair, Joint contracture |
OMIM:300406 |
| Spastic Ataxia 5, Autosomal Recessive |
|
Spastic ataxia, Ataxia, Dysmetria, Dysdiadochokinesis, Distal amyotrophy, Myoclonus, Increased in... |
OMIM:614487 |
| Dubowitz Syndrome |
|
Sparse scalp hair, Aplastic anemia, Hypospadias, Short stature, Postnatal growth retardation, Cry... |
OMIM:223370 |
| Palmoplantar Keratoderma I, Striate, Focal, Or Diffuse |
|
Hypergranulosis, Yellow nails, Palmoplantar hyperkeratosis, Hyperhidrosis, Orthokeratotic hyperke... |
OMIM:148700 |
| Myotonic Dystrophy 2 |
|
Frontal balding, Oligozoospermia, Decreased circulating total IgM, Hypogonadism, Generalized amyo... |
OMIM:602668 |
| Johanson-Blizzard Syndrome |
|
Hepatic fibrosis, Micropenis, Hypothyroidism, Abnormality of the nail, Hepatomegaly, Hypospadias,... |
OMIM:243800 |
| Atypical Werner Syndrome |
|
Skeletal muscle atrophy, Abnormal hair whorl, Fasting hyperinsulinemia, Premature graying of hair... |
ORPHA:79474 |
| Trichothiodystrophy 6, Nonphotosensitive |
|
Brittle hair, Small for gestational age, Short stature, Slow-growing hair, Mild intrauterine grow... |
OMIM:616943 |
| Lymphatic Malformation 4 |
|
Hydrocele testis, Hyperkeratosis, Toenail dysplasia |
OMIM:615907 |
| Trichothiodystrophy 4, Nonphotosensitive |
|
Brittle hair, Sparse eyelashes, Concave nail, Abnormality of hair texture, Decreased fertility, G... |
OMIM:234050 |
| Bathing Suit Ichthyosis |
|
Parakeratosis, Multiple joint contractures, Alopecia, Thickened skin, Palmoplantar hyperkeratosis... |
ORPHA:100976 |
| Bladder Dysfunction, Autonomic, With Impaired Pupillary Reflex And Secondary Cakut |
|
Neurogenic bladder, Recurrent urinary tract infections, Hypospadias, Stage 2 chronic kidney disea... |
OMIM:191800 |
| Satoyoshi Syndrome |
|
Short stature, Nephrogenic diabetes insipidus, Abnormal hair morphology, Hypoplasia of the uterus... |
ORPHA:3130 |
| Early-Onset Spastic Ataxia-Myoclonic Epilepsy-Neuropathy Syndrome |
|
Ataxia, Dysmetria, Spastic dysarthria, Abnormal mitochondria in muscle tissue, Dysdiadochokinesis... |
ORPHA:313772 |
| Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy |
|
Duplicated collecting system, Small for gestational age, Postnatal growth retardation, Intrahepat... |
OMIM:617093 |
| Alg9-Cdg |
|
Hepatomegaly, Hypoplasia of the bladder, Torticollis, Lower limb spasticity, Ureteral hypoplasia,... |
ORPHA:79328 |
| 3C Syndrome |
|
Hypoplasia of penis, Short stature, Hypospadias, Adrenal hypoplasia, Postnatal growth retardation... |
ORPHA:7 |
| Alopecia-Contractures-Dwarfism-Intellectual Disability Syndrome |
|
Alopecia, Severe short stature, Moderate postnatal growth retardation, Hypohidrosis, Hyperkeratos... |
ORPHA:1005 |
| Cardiomyopathy, Dilated, With Woolly Hair, Keratoderma, And Tooth Agenesis |
|
Parakeratosis, Leukonychia, Hyperkeratosis, Palmoplantar keratoderma, Nail dystrophy, Ichthyosis,... |
OMIM:615821 |
| Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal |
|
Renal dysplasia, Hepatomegaly, Ureteral duplication, Renal insufficiency, Long-chain dicarboxylic... |
OMIM:608836 |
| Pili Torti-Onychodysplasia Syndrome |
|
Absent eyebrow, Alopecia, Brittle hair, Absent eyelashes, Generalized keratosis follicularis, Pal... |
ORPHA:2890 |
| Hypotrichosis 7 |
|
Sparse scalp hair, Brittle hair, Sparse eyelashes, Sparse axillary hair, Abnormal sweat gland mor... |
OMIM:604379 |
| Autosomal Agammaglobulinemia |
|
Agammaglobulinemia, Failure to thrive, Hepatitis, Neutropenia |
ORPHA:33110 |
| Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome |
|
Microphthalmia, Anophthalmia |
OMIM:615877 |
| Trichothiodystrophy 8, Nonphotosensitive |
|
Head titubation, Sparse eyebrow, Babinski sign, Spastic diplegia, Ankle clonus, Sparse hair, Wool... |
OMIM:619691 |
| Ichthyosis, Congenital, Autosomal Recessive 14 |
|
Hyperkeratosis, Orthokeratotic hyperkeratosis, Congenital nonbullous ichthyosiform erythroderma |
OMIM:617571 |
| Ectodermal Dysplasia 10A, Hypohidrotic/Hair/Nail Type, Autosomal Dominant |
|
Ridged nail, Sparse eyelashes, Slow-growing hair, Sparse eyebrow, Hypohidrosis, Fine hair, Sparse... |
OMIM:129490 |
| Gabriele-De Vries Syndrome |
|
Facial hypotonia, Tremor, Cryptorchidism, Sparse eyebrow, Distal arthrogryposis, Frontal upsweep ... |
OMIM:617557 |
| Cleft Lip/Palate-Ectodermal Dysplasia Syndrome |
|
Brittle hair, Sparse eyelashes, Abnormality of hair texture, Sparse eyebrow, Progressive hypotric... |
OMIM:225060 |
| Musculocontractural Ehlers-Danlos Syndrome |
|
Decreased muscle mass, Cryptorchidism, Abnormal mesentery morphology, Functional abnormality of t... |
ORPHA:2953 |
| Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige |
|
Hypergranulosis, Acantholysis, Increased circulating IgE level, Growth delay, Palmoplantar kerato... |
OMIM:615508 |
| Hajdu-Cheney Syndrome |
|
Hepatomegaly, Hypospadias, Short stature, Abnormal fingernail morphology, Splenomegaly, Patent du... |
ORPHA:955 |
| Cockayne Syndrome Type 1 |
|
Anophthalmia |
ORPHA:90321 |
| Intellectual Developmental Disorder, Autosomal Dominant 53 |
|
Involuntary movements, Cryptorchidism, Growth delay, Frontal upsweep of hair, Micropenis, Hydrone... |
OMIM:617798 |
| Olmsted Syndrome 2 |
|
Parakeratosis, Perioral hyperkeratosis, Palmoplantar hyperkeratosis, Hyperkeratosis, Palmoplantar... |
OMIM:619208 |
| Kabuki Syndrome |
|
Duplicated collecting system, Hypoplasia of penis, Crossed fused renal ectopia, Hypospadias, Shor... |
ORPHA:2322 |
| Agammaglobulinemia 5, Autosomal Dominant |
|
Agammaglobulinemia |
OMIM:613506 |
| Atrophoderma Vermiculata |
|
Hyperkeratotic papule, Follicular hyperkeratosis |
ORPHA:79100 |
| Ectodermal Dysplasia 12, Hypohidrotic/Hair/Tooth/Nail Type |
|
Subungual hyperkeratosis, Scarring alopecia of scalp, Hypoplastic sweat glands, Hypohidrosis, Nai... |
OMIM:617337 |
| Sjogren-Larsson Syndrome |
|
Short stature, Flexion contracture, Ichthyosis, Spastic paraparesis, Spasticity |
OMIM:270200 |
| Hereditary Elliptocytosis |
|
Hemolytic anemia, Reticulocytosis, Abnormal erythrocyte morphology, Splenomegaly, Jaundice, Postn... |
ORPHA:288 |
| Anophthalmia-Megalocornea-Cardiopathy-Skeletal Anomalies Syndrome |
|
Aniridia, Umbilical hernia, Anophthalmia |
ORPHA:1101 |
| Epidermolytic Hyperkeratosis 2 |
|
Palmoplantar hyperkeratosis, Hyperkeratosis, Cobblestone-like hyperkeratosis, Palmoplantar kerato... |
OMIM:620150 |
| Arthrogryposis, Cleft Palate, Craniosynostosis, And Impaired Intellectual Development |
|
Short stature, Decreased body weight, Vesicoureteral reflux, Arthrogryposis multiplex congenita, ... |
OMIM:618265 |
| Gonadoblastoma |
|
Gonadal dysgenesis with female appearance, male, Hirsutism, Gonadal calcification, Dysgerminoma, ... |
ORPHA:206484 |
| Ichthyosis, Congenital, Autosomal Recessive 10 |
|
Hypergranulosis, Hyperkeratosis, Orthokeratotic hyperkeratosis, Palmoplantar keratoderma, General... |
OMIM:615024 |
| Lamellar Ichthyosis |
|
Renal insufficiency, Short stature, Hyperkeratosis, Ichthyosis, Sparse hair, Abnormality of the n... |
ORPHA:313 |
| Ichthyosis, Congenital, Autosomal Recessive 1 |
|
Parakeratosis, Alopecia, Flexion contracture, Palmoplantar hyperkeratosis, Congenital ichthyosifo... |
OMIM:242300 |
| Kid Syndrome |
|
Recurrent cutaneous abscess formation, Sparse eyelashes, Postnatal growth retardation, Scarring a... |
ORPHA:477 |
| Fibular Hemimelia |
|
Anophthalmia, Spina bifida |
ORPHA:93323 |
| Hirschsprung Disease With Hypoplastic Nails And Dysmorphic Facial Features |
|
Hydronephrosis, Small nail |
OMIM:235760 |
| Microcephaly 26, Primary, Autosomal Dominant |
|
Short stature, Spastic tetraparesis, Prominent eyelashes, Failure to thrive, Hydronephrosis |
OMIM:619179 |
| Meckel Syndrome |
|
Encephalocele, Anophthalmia, Anencephaly, Aplasia/Hypoplasia of the iris, Microphthalmia, Oligohy... |
ORPHA:564 |
| Intellectual Disability, Buenos-Aires Type |
|
Abnormal fingernail morphology, Short stature, Hyperconvex thumb nails, Fine hair, Hydronephrosis... |
ORPHA:3079 |
| Trichothiodystrophy 7, Nonphotosensitive |
|
Brittle hair, Ichthyosis, Congenital nonbullous ichthyosiform erythroderma, Follicular hyperkerat... |
OMIM:618546 |
| Woolly Hair, Hypotrichosis, Everted Lower Lip, And Outstanding Ears |
|
Sparse hair, Woolly hair |
OMIM:278200 |
| Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins |
|
Hydroureter, Hypospadias, Diastasis recti, Asplenia, Patent ductus arteriosus, Pulmonary lymphang... |
OMIM:265380 |
| Oculocerebrorenal Syndrome Of Lowe |
|
Hyperparathyroidism, Clonus, Oligosacchariduria, Nephrocalcinosis, Aminoaciduria, Glomerulopathy,... |
ORPHA:534 |
| Opitz Gbbb Syndrome |
|
Bifid scrotum, Enlarged ovaries, Hypospadias, Short stature, Congenital diaphragmatic hernia, Cry... |
ORPHA:2745 |
| Pontocerebellar Hypoplasia, Hypotonia, And Respiratory Insufficiency Syndrome, Neonatal Lethal |
|
Hepatomegaly, Brittle hair, Sparse eyebrow, Spasticity, Hydrocele testis, Neonatal death, Micropenis |
OMIM:618810 |
| Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome |
|
Cryptorchidism, Hypothyroidism, Macroglossia, Vesicoureteral reflux, Intrauterine growth retardat... |
ORPHA:453499 |
| Mucopolysaccharidosis Type 3 |
|
Hepatomegaly, Vocal cord paresis, Ataxia, Thick hair, Adenoiditis, Heparan sulfate excretion in u... |
ORPHA:581 |
| Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome |
|
Hypoplastic fingernail, Hydroureter, Tremor, Patent ductus arteriosus, Synophrys, Hypertrophy of ... |
ORPHA:280633 |
| Linear Verrucous Nevus Syndrome |
|
Hyperkeratosis, Sparse scalp hair, Abnormality of the kidney |
ORPHA:2611 |
| Mucolipidosis Ii Alpha/Beta |
|
Hepatomegaly, Brittle hair, Diastasis recti, Sparse eyebrow, Splenomegaly, Growth delay, Macroglo... |
OMIM:252500 |
| Wiedemann-Rautenstrauch Syndrome |
|
Decreased response to growth hormone stimulation test, Tremor, Synophrys, Wide penis, Hypertonia,... |
ORPHA:3455 |
| Holoprosencephaly |
|
Encephalocele, Anophthalmia, Spinal dysraphism, Branchial anomaly, Microphthalmia |
ORPHA:2162 |
| Autosomal Recessive Hypohidrotic Ectodermal Dysplasia |
|
Alopecia, Abnormal fingernail morphology, Abnormal hair morphology, Fine hair, Hypohidrosis, Abno... |
ORPHA:248 |
| Kindler Epidermolysis Bullosa |
|
Urethral stricture, Camptodactyly of finger, Phimosis, Flexion contracture, Neoplasm of the ureth... |
ORPHA:2908 |
| Odontoonychodermal Dysplasia |
|
Ridged nail, Sparse scalp hair, Plantar hyperkeratosis, Dry hair, Thin nail, Hypergranulosis, Sho... |
OMIM:257980 |
| Microphthalmia, Syndromic 3 |
|
Microphthalmia, Optic nerve aplasia, Anophthalmia, Optic nerve hypoplasia |
OMIM:206900 |
| Retinal Dystrophy, Iris Coloboma, And Comedogenic Acne Syndrome |
|
Patent ductus arteriosus, Follicular hyperkeratosis |
OMIM:615147 |
| Ectodermal Dysplasia-Syndactyly Syndrome 1 |
|
Sparse scalp hair, Alopecia, Sparse eyelashes, Absent facial hair, Hypoplastic toenails, Coarse h... |
OMIM:613573 |
| Pili Torti |
|
Abnormal eyebrow morphology, Alopecia, Brittle hair, Abnormality of hair texture, Abnormality of ... |
ORPHA:2889 |
| Olmsted Syndrome, X-Linked |
|
Subungual hyperkeratosis, Parakeratosis, Alopecia totalis, Palmoplantar hyperkeratosis, Hyperkera... |
OMIM:300918 |
| Congenital Disorder Of Glycosylation, Type If |
|
Ataxia, Flexion contracture, Renal cortical cysts, Hyperkeratosis, Hypertonia, Failure to thrive |
OMIM:609180 |
| Global Developmental Delay-Neuro-Ophthalmological Abnormalities-Seizures-Intellectual Disability Syndrome |
|
Growth delay, Failure to thrive, Hydronephrosis, Limb hypertonia |
ORPHA:488613 |
| Microcephaly, Developmental Delay, And Brittle Hair Syndrome |
|
Brittle hair, Small for gestational age, Failure to thrive in infancy, Hypospadias, Short stature... |
OMIM:618891 |
| Basel-Vanagaite-Smirin-Yosef Syndrome |
|
Sparse scalp hair, Hypospadias, Sparse eyebrow, Male urethral meatus stenosis, Cholelithiasis, Sp... |
ORPHA:464738 |
| Marden-Walker Syndrome |
|
Skeletal muscle atrophy, Epispadias, Intrauterine growth retardation, Abnormal penis morphology, ... |
ORPHA:2461 |
| Ectodermal Dysplasia 4, Hair/Nail Type |
|
Absent eyebrow, Alopecia, Brittle hair, Absent eyelashes, Onycholysis, Nail dystrophy, Sparse bod... |
OMIM:602032 |
| Mckusick-Kaufman Syndrome |
|
Urethral stricture, Multicystic kidney dysplasia, Short stature, Renal hypoplasia/aplasia, Crypto... |
ORPHA:2473 |
| Keratosis Linearis With Ichthyosis Congenita And Sclerosing Keratoderma |
|
Parakeratosis, Hyperconvex nail, Linear arrays of macular hyperkeratoses in flexural areas, Honey... |
OMIM:601952 |
| Leukodystrophy, Hypomyelinating, 3 |
|
Appendicular spasticity, Abnormal pyramidal sign, Spastic paraparesis, Joint contracture, Failure... |
OMIM:260600 |
| Palmoplantar Keratoderma And Congenital Alopecia 1 |
|
Alopecia, Plantar hyperkeratosis, Brittle hair, Epidermal hyperkeratosis, Sparse eyebrow, Leukony... |
OMIM:104100 |
| Hydrolethalus Syndrome 1 |
|
Accessory spleen, Hypospadias, Bifid uterus, Stillbirth, Adrenal gland dysgenesis, Intrauterine g... |
OMIM:236680 |
| Microphthalmia, Lenz Type |
|
Hydroureter, Hypospadias, Camptodactyly of finger, Short stature, Renal hypoplasia/aplasia, Crypt... |
ORPHA:568 |
| Marburg Hemorrhagic Fever |
|
Reticulocytosis, Renal insufficiency, Orchitis, Jaundice, Neutrophilia in presence of infection, ... |
ORPHA:99826 |
| Mesomelia-Synostoses Syndrome |
|
Abnormal eyebrow morphology, Short stature, Hydronephrosis |
ORPHA:2496 |
| Okamoto Syndrome |
|
Urinary incontinence, Bifid uterus, Splenomegaly, Extension of hair growth on temples to lateral ... |
ORPHA:2729 |
| Pachyonychia Congenita |
|
Alopecia, Paronychia, Onychogryposis of toenails, Linear arrays of macular hyperkeratoses in flex... |
ORPHA:2309 |
| Orofaciodigital Syndrome Type 1 |
|
Multicystic kidney dysplasia, Renal insufficiency, Proteinuria, Ataxia, Brittle hair, Alopecia, P... |
ORPHA:2750 |
| Fryns Syndrome |
|
Multicystic kidney dysplasia, Hypospadias, Congenital diaphragmatic hernia, Cryptorchidism, Bicor... |
ORPHA:2059 |
| Trichodysplasia-Xeroderma Syndrome |
|
Sparse scalp hair, Alopecia, Brittle hair, Sparse eyebrow, Sparse body hair, Coarse hair, Trichod... |
ORPHA:3361 |
| 1Q21.1 Microdeletion Syndrome |
|
Short stature, Cryptorchidism, Patent ductus arteriosus, Vesicoureteral reflux, Intrauterine grow... |
ORPHA:250989 |
| Prune Belly Syndrome With Pulmonic Stenosis, Mental Retardation, And Deafness |
|
Hydroureter, Hydronephrosis |
OMIM:264140 |
| Autosomal Recessive Malignant Osteopetrosis |
|
Hepatomegaly, Abnormality of hair texture, Tremor, Splenomegaly, Lymphadenopathy, Growth delay, A... |
ORPHA:667 |
| Spondyloepimetaphyseal Dysplasia, Sponastrime Type |
|
Rhizomelia, Congenital hypothyroidism, Disproportionate short-limb short stature, Neutropenia, De... |
OMIM:271510 |
| Autosomal Dominant Epidermolytic Ichthyosis |
|
Weight loss, Hyperkeratosis, Congenital bullous ichthyosiform erythroderma, Palmoplantar keratode... |
ORPHA:312 |
| Smith-Lemli-Opitz Syndrome |
|
Hypoplasia of penis, Multicystic kidney dysplasia, Hypospadias, Short stature, Congenital diaphra... |
ORPHA:818 |
| Ovarian Fibrothecoma |
|
Ovarian fibroma, Metrorrhagia, Peritonitis, Abnormal circulating hormone concentration, Abnormal ... |
ORPHA:314478 |
| Ogden Syndrome |
|
Torticollis, Postnatal growth retardation, Cryptorchidism, Fine hair, Hypertonia, Aplasia/Hypopla... |
ORPHA:276432 |
| Cerebrooculonasal Syndrome |
|
Encephalocele, Anophthalmia, Optic nerve hypoplasia |
OMIM:605627 |
| Developmental And Epileptic Encephalopathy 82 |
|
Spastic paraparesis, Short stature, Spastic tetraplegia, Decreased body weight |
OMIM:618721 |
| Doors Syndrome |
|
Increased urine alpha-ketoglutarate concentration, Adrenal hyperplasia, Abnormal fingernail morph... |
ORPHA:79500 |
| Lymphatic Malformation 12 |
|
Hydrocele testis, Hyperkeratosis, Neonatal death |
OMIM:620014 |
| Osteopenia-Intellectual Disability-Sparse Hair Syndrome |
|
Postnatal growth retardation, Sparse scalp hair, Fine hair |
ORPHA:2324 |
| Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency |
|
Fused labia majora, Decreased circulating cortisol level, Adrenal hyperplasia, Decreased circulat... |
ORPHA:95699 |
| Posterior Urethral Valve |
|
Renal insufficiency, Recurrent urinary tract infections, Urinary incontinence, Dysuria, Postnatal... |
ORPHA:93110 |
| Gabriele-De Vries Syndrome |
|
Distal lower limb amyotrophy, Small for gestational age, Decreased response to growth hormone sti... |
ORPHA:506358 |
| Hypotrichosis 6 |
|
Brittle hair, Sparse eyelashes, Sparse eyebrow, Follicular hyperkeratosis, Sparse hair, Pili torti |
OMIM:607903 |
| Amelo-Onycho-Hypohidrotic Syndrome |
|
Abnormal fingernail morphology, Hypoplastic toenails, Fine hair, Hypohidrosis, Hyperkeratosis, On... |
ORPHA:1028 |
| Leukodystrophy, Hypomyelinating, 2 |
|
Ataxia, Facial palsy, Rigidity, Head titubation, Babinski sign, Choreoathetosis, Progressive spas... |
OMIM:608804 |
| Basel-Vanagaite-Smirin-Yosef Syndrome |
|
Hypospadias, Sparse hair, Spasticity, Hydronephrosis, Clitoral hypertrophy |
OMIM:616449 |
| Frontonasal Dysplasia-Alopecia-Genital Anomalies Syndrome |
|
Alopecia, Small scrotum, Cryptorchidism, Fine hair, Hypogonadism, Intrauterine growth retardation |
ORPHA:228390 |
| Fetal Hydantoin Syndrome |
|
Bifid scrotum, Short stature, Cryptorchidism, Low posterior hairline, Coarse hair, Intrauterine g... |
ORPHA:1912 |
| Palmoplantar Hyperkeratosis With Squamous Cell Carcinoma Of Skin And 46,Xx Sex Reversal |
|
Clitoral hypertrophy, Hypospadias, External genital hypoplasia, Ovotestis, Orthokeratotic hyperke... |
OMIM:610644 |
| Beta-Propeller Protein-Associated Neurodegeneration |
|
Parkinsonism, Tremor, Rigidity, Bradykinesia, Spastic paraparesis |
ORPHA:329284 |
| Sarcoidosis |
|
Increased T cell count, Nephrocalcinosis, Leukopenia, Tubulointerstitial nephritis, Hypothyroidis... |
ORPHA:797 |
| Short Stature, Oligodontia, Dysmorphic Facies, And Motor Delay |
|
Recurrent urinary tract infections, Short stature, Decreased response to growth hormone stimulati... |
OMIM:619234 |
| Tetrasomy 15Q26 |
|
Patent ductus arteriosus, Horseshoe kidney, Camptodactyly, Intrauterine growth retardation, Hydro... |
OMIM:614846 |
| Progeroid Syndrome, Petty Type |
|
Brittle hair, Short stature, Abnormal hair morphology, Abnormality of the nail, Long eyelashes in... |
ORPHA:2963 |
| Ichthyosis Follicularis-Alopecia-Photophobia Syndrome |
|
Hyperconvex fingernails, Sparse hair, Abnormality of the nail, Absent eyebrow, Alopecia, Abnormal... |
ORPHA:2273 |
| Hypercarotenemia And Vitamin A Deficiency, Autosomal Recessive |
|
Follicular hyperkeratosis |
OMIM:277350 |
| Split Cord Malformation |
|
Neurogenic bladder, Hypospadias, Urinary incontinence, Detrusor sphincter dyssynergia, Tufted hai... |
ORPHA:573278 |
| Zellweger-Like Syndrome Without Peroxisomal Anomalies |
|
Hepatomegaly, Alopecia, Brittle hair, Short stature, Intrauterine growth retardation, Failure to ... |
ORPHA:50812 |
| 3Mc Syndrome 1 |
|
Diastasis recti, Supernumerary nipple, Highly arched eyebrow, Postnatal growth retardation, Paten... |
OMIM:257920 |
| Pigmentary Disorder, Reticulate, With Systemic Manifestations, X-Linked |
|
Urethral stricture, Failure to thrive in infancy, Increased circulating interleukin 8 concentrati... |
OMIM:301220 |
| Ectodermal Dysplasia 7, Hair/Nail Type |
|
Sparse scalp hair, Alopecia, Brittle hair, Sparse eyelashes, Abnormal sweat gland morphology, Spa... |
OMIM:614929 |
| Hypotrichosis 12 |
|
Sparse scalp hair, Dry hair, Slow-growing hair, Sparse axillary hair, Abnormal sweat gland morpho... |
OMIM:615885 |
| Late-Infantile/Juvenile Krabbe Disease |
|
Lower limb spasticity, Ataxia, Tremor, Slurred speech, Spastic diplegia, Tetraplegia, Clumsiness,... |
ORPHA:206443 |
| Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome |
|
Microphthalmia, Anophthalmia |
ORPHA:2250 |
| Proteus Syndrome |
|
Thymus hyperplasia, Decreased muscle mass, Generalized hyperkeratosis, Testicular neoplasm, Cache... |
ORPHA:744 |
| Mosaic Trisomy 8 |
|
Short stature, Camptodactyly of finger, Cryptorchidism, Hydronephrosis, Vesicoureteral reflux, Ar... |
ORPHA:96061 |
| Viss Syndrome |
|
Contracture of the proximal interphalangeal joint of the 2nd toe, Sparse scalp hair, Alopecia, Sh... |
OMIM:619472 |
| Noonan Syndrome 1 |
|
Male infertility, Amegakaryocytic thrombocytopenia, Juvenile myelomonocytic leukemia, Failure to ... |
OMIM:163950 |
| Fowler Urethral Sphincter Dysfunction Syndrome |
|
Dysuria, Urinary incontinence, Abnormality of the urethra, Polycystic ovaries, Urinary retention,... |
ORPHA:2795 |
| Chronic Mucocutaneous Candidiasis |
|
Dyspareunia, Recurrent urinary tract infections, Abnormal fingernail morphology, Hepatitis, Broad... |
ORPHA:1334 |
| Tarp Syndrome |
|
Horseshoe kidney, Athetosis, Neonatal death, Intrauterine growth retardation, Failure to thrive, ... |
OMIM:311900 |
| Jaberi-Elahi Syndrome |
|
Appendicular spasticity, Brittle hair, Sparse eyelashes, Tremor, Sparse eyebrow, Dysmetria, Gait ... |
OMIM:617988 |
| Congenital Disorder Of Glycosylation, Type It |
|
Hepatomegaly, Decreased serum insulin-like growth factor 1, Short stature, Intrahepatic cholestas... |
OMIM:614921 |
| Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency |
|
Viral hepatitis, Recurrent urinary tract infections, Liver abscess, Diabetes mellitus, Cholangiti... |
ORPHA:183675 |
| Coffin-Siris Syndrome 1 |
|
Dry hair, Congenital diaphragmatic hernia, Ectopic kidney, Gait ataxia, Clitoral hypertrophy, Hyp... |
OMIM:135900 |
| Toe Syndactyly, Telecanthus, And Anogenital And Renal Malformations |
|
Hypoplasia of the bladder, Hydroureter, Small for gestational age, Short stature, Septate vagina,... |
OMIM:300707 |
| Sotos Syndrome |
|
Ureteral duplication, Tremor, Flexion contracture, Vesicoureteral reflux, Hypothyroidism, Hypospa... |
ORPHA:821 |
| Cowden Syndrome |
|
Abnormal penis morphology, Endometrial carcinoma, Generalized hyperkeratosis, Ataxia, Abnormality... |
ORPHA:201 |
| Simpson-Golabi-Behmel Syndrome, Type 1 |
|
Congenital diaphragmatic hernia, Renal cyst, Hepatoblastoma, Hepatomegaly, Hypospadias, Cryptorch... |
OMIM:312870 |
| Hinman Syndrome |
|
Renal insufficiency, Recurrent urinary tract infections, Enuresis, Vesicoureteral reflux, Hydrone... |
ORPHA:84085 |
| Pelvis-Shoulder Dysplasia |
|
Short stature, Camptodactyly of finger, Mesomelic/rhizomelic limb shortening, Neonatal short-trun... |
ORPHA:2839 |
| Congenital Anomalies Of Kidney And Urinary Tract 2 |
|
Renal dysplasia, Renal insufficiency, Hydroureter, Renal hypoplasia, Congenital megaureter, Urete... |
OMIM:143400 |
| Branchio-Oculo-Facial Syndrome |
|
Multicystic kidney dysplasia, Renal agenesis, Short stature, Premature graying of hair, Fingernai... |
ORPHA:1297 |
| Xeroderma Pigmentosum |
|
Alopecia, Ataxia, Short stature, Cryptorchidism, Thickened skin, Hyperkeratosis, Aminoaciduria, A... |
ORPHA:910 |
| Carey-Fineman-Ziter Syndrome |
|
Skeletal muscle atrophy, Short stature, Facial palsy, Aplasia of the pectoralis major muscle, Gla... |
ORPHA:1358 |
| Ectodermal Dysplasia-Intellectual Disability-Central Nervous System Malformation Syndrome |
|
Hypoplasia of penis, Supernumerary nipple, Cryptorchidism, Hypohidrosis, Fine hair, Aplastic/hypo... |
ORPHA:1812 |
| 46,Xy Sex Reversal 4 |
|
Hypergonadotropic hypogonadism, Agonadism, Hydronephrosis, Sex reversal, Gonadal dysgenesis, Hypo... |
OMIM:154230 |
| Ogden Syndrome |
|
Maternal diabetes, Microvesicular hepatic steatosis, Iron deficiency anemia, Hypertonia, Macroves... |
OMIM:300855 |
| Bardet-Biedl Syndrome 1 |
|
Diabetes mellitus, Ataxia, Abnormality of the kidney, Nephrogenic diabetes insipidus, Poor coordi... |
OMIM:209900 |
| Hereditary Xanthinuria |
|
Crystalluria, Recurrent urinary tract infections, Xanthine nephrolithiasis, Xanthinuria, Hydronep... |
ORPHA:3467 |
| Nk-Cell Enteropathy |
|
Increased T cell count |
ORPHA:263665 |
| Ectodermal Dysplasia-Blindness Syndrome |
|
Abnormal fingernail morphology, Short stature, Hypohidrosis, Fine hair, Hyperkeratosis, Sparse hair |
ORPHA:1806 |
| Prune1-Related Neurological Syndrome |
|
Spastic tetraparesis, Clonus, Tongue fasciculations, Spastic paraparesis |
ORPHA:544469 |
| Joubert Syndrome 21 |
|
Encephalocele, Occipital encephalocele, Anophthalmia |
OMIM:615636 |
| Urofacial Syndrome 2 |
|
Renal insufficiency, Recurrent urinary tract infections, Bladder trabeculation, Spastic/hyperacti... |
OMIM:615112 |
| Intellectual Developmental Disorder, Autosomal Dominant 42 |
|
Neurogenic bladder, Cerebral palsy, Congenital hypothyroidism, Growth delay, Myoclonus, Hemiplegi... |
OMIM:616973 |
| Ichthyosis, Congenital, Autosomal Recessive 6 |
|
Parakeratosis, Hypohidrosis, Hyperkeratosis, Palmoplantar keratoderma, Generalized ichthyosis, Co... |
OMIM:612281 |
| Congenital Megacalycosis |
|
Recurrent urinary tract infections, Nephrolithiasis, Renal cyst, Hematuria, Tubulointerstitial ne... |
ORPHA:93109 |
| Satb2-Associated Syndrome Due To A Chromosomal Rearrangement |
|
Lower limb spasticity, External genital hypoplasia, Postnatal growth retardation, Cryptorchidism,... |
ORPHA:251028 |
| Weaver Syndrome |
|
Deep-set nails, Diastasis recti, Thin nail, Cryptorchidism, Patent ductus arteriosus, Slurred spe... |
OMIM:277590 |
| Encephalocraniocutaneous Lipomatosis |
|
Cryptorchidism, Alopecia, Pelvic kidney, Hydronephrosis |
OMIM:613001 |
| Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Dominant |
|
Sparse eyelashes, Trichiasis, Sparse eyebrow, Elbow flexion contracture, Knee flexion contracture... |
OMIM:148210 |
| Peeling Skin Syndrome 5 |
|
Hyperkeratosis |
OMIM:617115 |
| Adult Krabbe Disease |
|
Ataxia, Urinary incontinence, Progressive spastic paraparesis, Hoffmann sign, Babinski sign, Clum... |
ORPHA:206448 |
| Waardenburg Syndrome, Type 4A |
|
White eyelashes, Ataxia, White eyebrow, Premature graying of hair, White forelock, Spastic parapa... |
OMIM:277580 |
| Hereditary Sensory And Autonomic Neuropathy Type 1 |
|
Hyperkeratosis, Distal amyotrophy, Foot dorsiflexor weakness |
ORPHA:36386 |
| Charge Syndrome |
|
Bifid scrotum, Hypogonadotropic hypogonadism, Facial palsy, Short stature, Highly arched eyebrow,... |
ORPHA:138 |
| Mowat-Wilson Syndrome |
|
Bifid scrotum, Urinary incontinence, Asplenia, Flexion contracture, Vesicoureteral reflux, Webbed... |
ORPHA:2152 |
| Arthrogryposis And Ectodermal Dysplasia |
|
Skeletal muscle atrophy, Absent eyebrow, Diabetes mellitus, Short stature, Trichiasis, Hypohidros... |
OMIM:601701 |
| Endove Syndrome, Limb-Brain Type |
|
Hydronephrosis, Neurogenic bladder, Failure to thrive, Recurrent urinary tract infections |
OMIM:619218 |
| Uncombable Hair Syndrome |
|
Abnormal hair morphology, White hair, Coarse hair, Patchy alopecia, Trichodysplasia, Woolly hair |
ORPHA:1410 |
| Ectodermal Dysplasia And Immunodeficiency 1 |
|
Dysgammaglobulinemia, Reduced natural killer cell activity, Increased circulating IgA level, Incr... |
OMIM:300291 |
| Brain Malformations With Or Without Urinary Tract Defects |
|
Vesicoureteral reflux, Failure to thrive, Renal hypoplasia, Hydronephrosis |
OMIM:613735 |
| Menkes Disease |
|
Alopecia, Brittle hair, Short stature, Babinski sign, Hypertonia, Sparse hair, Intrauterine growt... |
OMIM:309400 |
| Craniofacioskeletal Syndrome |
|
Absent gallbladder, Hypospadias, Short stature, Cryptorchidism, Patent ductus arteriosus, Intraut... |
OMIM:300712 |
| Lichen Planopilaris |
|
Alopecia, Abnormal fingernail morphology, Hepatitis, Hyperkeratosis, Onycholysis |
ORPHA:525 |
| Desmoid Tumor |
|
Hydronephrosis, Abnormality of the upper urinary tract |
ORPHA:873 |
| Cutis Laxa, Autosomal Recessive, Type Iia |
|
Brittle hair, Abnormality of hair texture, Coarse hair, Intrauterine growth retardation, Failure ... |
OMIM:219200 |
| Robinow Syndrome, Autosomal Recessive 1 |
|
Short stature, Cryptorchidism, Nephrolithiasis, Nephrocalcinosis, Macroglossia, Clitoral hypoplas... |
OMIM:268310 |
| Renal Dysplasia |
|
Abnormal renal calyx morphology, Urinary incontinence, Functional abnormality of the bladder, Ure... |
ORPHA:93108 |
| Ichthyosis, Congenital, Autosomal Recessive 3 |
|
Anhidrosis, Hypohidrosis, Hyperkeratosis, Palmoplantar keratoderma, Congenital nonbullous ichthyo... |
OMIM:606545 |
| Au-Kline Syndrome |
|
Supernumerary nipple, Cryptorchidism, Chronic kidney disease, Dilatation of the renal pelvis, Ves... |
OMIM:616580 |
| Dowling-Degos Disease |
|
Abnormal fingernail morphology, Penile freckling, Hyperkeratosis, Scrotal hyperpigmentation, Hype... |
ORPHA:79145 |
| Trichothiodystrophy 2, Photosensitive |
|
Short stature, Coarse hair, Congenital nonbullous ichthyosiform erythroderma, Ichthyosis, Tiger t... |
OMIM:616390 |
| Spinocerebellar Ataxia 34 |
|
Ataxia, Epidermal hyperkeratosis, Abnormal pyramidal sign, Limb ataxia, Gait ataxia, Dysdiadochok... |
OMIM:133190 |
| Frontometaphyseal Dysplasia 1 |
|
Skeletal muscle atrophy, Scapular winging, Hydroureter, Interphalangeal joint contracture of fing... |
OMIM:305620 |
| S-Adenosylhomocysteine Hydrolase Deficiency |
|
Abnormality of hair texture, Growth delay, Abnormality of the liver, Muscular dystrophy, Hepatoce... |
ORPHA:88618 |
| Microcephalic Osteodysplastic Primordial Dwarfism, Type I |
|
Flexion contracture, Renal cyst, Knee flexion contracture, Sparse hair, Micropenis, Sparse eyebro... |
OMIM:210710 |
| Biliary, Renal, Neurologic, And Skeletal Syndrome |
|
Anterior pituitary hypoplasia, Hepatic fibrosis, Neonatal death, Intrahepatic bile duct dilatatio... |
OMIM:619534 |
| Congenital Disorder Of Glycosylation, Type Im |
|
Alopecia, Sparse eyelashes, Sparse eyebrow, Tetraplegia, Hyperkeratosis, Ichthyosis, Failure to t... |
OMIM:610768 |
| Focal Dermal Hypoplasia |
|
Multicystic kidney dysplasia, Alopecia, Diastasis recti, Congenital diaphragmatic hernia, Renal h... |
ORPHA:2092 |
| 14Q22Q23 Microdeletion Syndrome |
|
Optic nerve aplasia, Anophthalmia |
ORPHA:264200 |
| Intellectual Developmental Disorder With Impaired Language And Dysmorphic Facies |
|
Supernumerary nipple, Highly arched eyebrow, Cryptorchidism, Obesity, Vesicoureteral reflux, Micr... |
OMIM:618653 |
| Mowat-Wilson Syndrome Due To Monosomy 2Q22 |
|
Bifid scrotum, Urinary incontinence, Asplenia, Flexion contracture, Vesicoureteral reflux, Webbed... |
ORPHA:261537 |
| Palmoplantar Keratoderma And Woolly Hair |
|
Sparse scalp hair, Sparse eyelashes, Sparse eyebrow, Leukonychia, Palmoplantar keratoderma, Wooll... |
OMIM:616099 |
| Amyloidosis, Hereditary, Transthyretin-Related |
|
Ataxia, Urinary incontinence, Tremor, Abnormal pyramidal sign, Paraplegia, Limb ataxia, Hemipares... |
OMIM:105210 |
| Riddle Syndrome |
|
Generalized lymphadenopathy, Ataxia, Short stature, Enuresis nocturna, Weight loss, Decreased cir... |
ORPHA:420741 |
| Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation |
|
Supernumerary nipple, Cryptorchidism, Type 1 muscle fiber atrophy, Hyperhidrosis, Growth delay, M... |
ORPHA:453504 |
| Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion |
|
Supernumerary nipple, Cryptorchidism, Type 1 muscle fiber atrophy, Hyperhidrosis, Growth delay, M... |
ORPHA:352665 |
| Ifap Syndrome 1, With Or Without Bresheck Syndrome |
|
Ichthyosis follicularis, Atrichia, Periungual erythema, Neonatal death, Dystrophic fingernails, S... |
OMIM:308205 |
| Robinow Syndrome |
|
Decreased serum testosterone concentration, Multicystic kidney dysplasia, Small scrotum, Small fo... |
ORPHA:97360 |
| Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Microdeletion |
|
Diastasis recti, Postnatal growth retardation, Flexion contracture, Macroglossia, Camptodactyly, ... |
ORPHA:254528 |
| Thrombocytopenia 1 |
|
Increased circulating IgA level, Increased circulating IgE level, Decreased mean platelet volume,... |
OMIM:313900 |
| Acrofacial Dysostosis, Catania Type |
|
Hypospadias, Short stature, Abnormal hair pattern, Cryptorchidism, Coarse hair, Intrauterine grow... |
ORPHA:1786 |
| Lethal Congenital Contracture Syndrome 2 |
|
Skeletal muscle atrophy, Arthrogryposis multiplex congenita, Hydronephrosis |
OMIM:607598 |
| Homocystinuria Due To Cystathionine Beta-Synthase Deficiency |
|
Hepatic steatosis, Brittle hair, Methioninuria, Failure to thrive, Homocystinuria, Pancreatitis |
OMIM:236200 |
| Charcot-Marie-Tooth Disease, Axonal, Mitochondrial Form, 1 |
|
Distal lower limb amyotrophy, Neurogenic bladder, Thenar muscle atrophy, Babinski sign, Spastic p... |
OMIM:500013 |
| Severe Intellectual Disability-Poor Language-Strabismus-Grimacing Face-Long Fingers Syndrome |
|
Lower limb spasticity, Fine hair, Hypospadias, Intrauterine growth retardation |
ORPHA:363686 |
| Neurodevelopmental Disorder With Seizures, Spasticity, And Complete Or Partial Agenesis Of The Corpus Callosum |
|
Appendicular spasticity, Synophrys, Obesity, Fine hair, Long eyelashes, Apraxia, Oculomotor apraxia |
OMIM:620250 |
| Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly |
|
Hypospadias, Short stature, Renal hypoplasia, Renal cyst, Fine hair, Hepatic fibrosis, Polycystic... |
OMIM:614091 |
| Trisomy 8P |
|
Multiple joint contractures, Cryptorchidism, Fetal pyelectasis, Micropenis, Nephrocalcinosis, Low... |
ORPHA:264450 |
| White-Kernohan Syndrome |
|
Hydroureter, Synophrys, Broad medial eyebrow, Obesity, Horseshoe kidney, Rectovaginal fistula, Lo... |
OMIM:619426 |
| Cousin Syndrome |
|
Rhizomelia, Ambiguous genitalia, female, Disproportionate short stature, Low anterior hairline, A... |
OMIM:260660 |
| Neurofibromatosis, Familial Spinal |
|
Paraparesis, Lower limb muscle weakness |
OMIM:162210 |
| Duane-Radial Ray Syndrome |
|
Renal malrotation, Renal agenesis, Facial palsy, Renal hypoplasia, Horseshoe kidney, Small thenar... |
OMIM:607323 |
| Ectodermal Dysplasia/Short Stature Syndrome |
|
Short stature, Hyperkeratosis, Palmoplantar keratoderma, Nail dystrophy, Anonychia |
OMIM:616029 |
| Vohwinkel Syndrome, Variant Form |
|
Parakeratosis, Hypergranulosis, Honeycomb palmoplantar hyperkeratosis, Hyperkeratosis, Orthokerat... |
OMIM:604117 |
| Microgastria-Limb Reduction Defect Syndrome |
|
Microphthalmia, Anophthalmia |
ORPHA:2538 |
| Frontonasal Dysplasia 2 |
|
Sparse eyelashes, Alopecia totalis, Bilateral cryptorchidism, Sparse eyebrow, Hypohidrosis, Fine ... |
OMIM:613451 |
| Ichthyosis, Congenital, Autosomal Recessive 9 |
|
Hypergranulosis, Hypohidrosis, Hyperkeratosis, Congenital nonbullous ichthyosiform erythroderma, ... |
OMIM:615023 |
| Bazex-Dupre-Christol Syndrome |
|
Hypohidrosis, Coarse hair, Sparse hair, Trichoepithelioma, Pili torti, Trichorrhexis nodosa |
OMIM:301845 |
| Teebi-Shaltout Syndrome |
|
Ureteral stenosis, Short stature, Slow-growing hair, Highly arched eyebrow, Low anterior hairline... |
OMIM:272950 |
| Autosomal Recessive Robinow Syndrome |
|
Hypoplasia of penis, Multicystic kidney dysplasia, Alopecia, Camptodactyly of finger, Cryptorchid... |
ORPHA:1507 |
| Amastia, Bilateral, With Ureteral Triplication And Dysmorphism |
|
Patent ductus arteriosus, Absent nipple, Hydronephrosis, Ureteral triplication |
OMIM:104350 |
| Baraitser-Winter Cerebrofrontofacial Syndrome |
|
Hydroureter, Abnormality of the upper urinary tract, Highly arched eyebrow, Low posterior hairlin... |
ORPHA:2995 |
| Neuropathy, Hereditary Sensory, Type If |
|
Hyperkeratosis |
OMIM:615632 |
| Endove Syndrome, Limb-Only Type |
|
Vesicoureteral reflux, Hypoplastic labia majora, Volar fingernail, Hydronephrosis |
OMIM:619217 |
| Holoprosencephaly 9 |
|
Microphthalmia, Anophthalmia, Optic nerve hypoplasia |
OMIM:610829 |
| Bazex-Dupré-Christol Syndrome |
|
Sparse scalp hair, Sparse eyebrow, Sparse or absent eyelashes, Coarse hair, Sparse hair, Pili tor... |
ORPHA:113 |
| Apert Syndrome |
|
Cryptorchidism, Hyperhidrosis, Hydronephrosis, Rhizomelic arm shortening, Vaginal atresia |
OMIM:101200 |
| Chromomycosis |
|
Hyperkeratosis, Hyperparakeratosis, Hyperkeratotic papule, Lymphangiectasis |
ORPHA:182 |
| Combined Oxidative Phosphorylation Defect Type 7 |
|
Skeletal muscle atrophy, Ataxia, Abnormal pyramidal sign, Upper limb muscle weakness, Facial dipl... |
ORPHA:254930 |
| Weyers Ulnar Ray/Oligodactyly Syndrome |
|
Hydronephrosis |
OMIM:602418 |
| Alexander Disease Type Ii |
|
Ataxia, Rigidity, Babinski sign, Limb muscle weakness, Spasticity, Spastic paraparesis, Palatal t... |
ORPHA:363722 |
| Hallermann-Streiff Syndrome |
|
Alopecia, Sparse eyelashes, Proportionate short stature, Abnormality of hair texture, Sparse eyeb... |
ORPHA:2108 |
| Baller-Gerold Syndrome |
|
Failure to thrive in infancy, Short stature, Abnormality of the ureter, Abnormal localization of ... |
ORPHA:1225 |
| Infantile Digital Fibromatosis |
|
Hyperkeratosis, Parakeratosis |
ORPHA:199267 |
| Ichthyosis, Annular Epidermolytic, 1 |
|
Abnormal hair morphology, Hyperparakeratosis, Palmoplantar hyperkeratosis, Ichthyosis, Congenital... |
OMIM:607602 |
| Ovarian Fibroma |
|
Mesenteric cyst, Ovarian fibroma, Peritonitis, Gonadal calcification, Abnormality of the ovary |
ORPHA:314473 |
| Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation |
|
Bifid scrotum, Urinary incontinence, Asplenia, Flexion contracture, Vesicoureteral reflux, Webbed... |
ORPHA:261552 |
| Acrogeria |
|
Short stature, Fine hair |
ORPHA:2500 |
| Mitochondrial Membrane Protein-Associated Neurodegeneration |
|
Parkinsonism, Urinary incontinence, Rigidity, Babinski sign, Hand tremor, Bradykinesia, Spastic p... |
ORPHA:289560 |
| Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii |
|
Alopecia, Hydroureter, Severe short stature, Abnormality of the kidney, Abnormality of the upper ... |
ORPHA:2636 |
| Lateral Meningocele Syndrome |
|
Neurogenic bladder, Decreased muscle mass, Short stature, Cryptorchidism, Patent ductus arteriosu... |
OMIM:130720 |
| Cole Disease |
|
Hypergranulosis, Punctate palmoplantar hyperkeratosis, Hyperkeratosis, Palmoplantar keratoderma, ... |
OMIM:615522 |
| Cutis Laxa, Autosomal Recessive, Type Iiib |
|
Cryptorchidism, Flexion contracture, Elbow flexion contracture, Fine hair, Athetosis, Sparse hair... |
OMIM:614438 |
| Mosaic Variegated Aneuploidy Syndrome 7 With Inflammation And Tumor Predisposition |
|
Pilomatrixoma, Multinodular goiter, Embryonal rhabdomyosarcoma, Hyperkeratosis, Cervix cancer |
OMIM:620189 |
| Vulvovaginal Gingival Syndrome |
|
Ridged nail, Abnormality of female external genitalia, Parakeratosis, Abnormality of tumor necros... |
ORPHA:83453 |
| Acrokeratosis Verruciformis Of Hopf |
|
Parakeratosis, Hypergranulosis, Acantholysis, Punctate palmoplantar hyperkeratosis, Leukonychia, ... |
ORPHA:79151 |
| Odontotrichoungual-Digital-Palmar Syndrome |
|
Nail dystrophy, Nail dysplasia, Abnormality of hair texture |
OMIM:601957 |
| Autosomal Recessive Cutis Laxa Type 2, Classic Type |
|
Decreased muscle mass, Short stature, Thick hair, Postnatal growth retardation, Coarse hair, Spar... |
ORPHA:357074 |
| Nicolaides-Baraitser Syndrome |
|
Absent eyebrow, Dry hair, Sparse scalp hair, Short stature, Sparse medial eyebrow, Cryptorchidism... |
OMIM:601358 |
| Peeling Skin Syndrome 4 |
|
Hyperkeratosis, Palmoplantar keratoderma, Nail dystrophy, Ichthyosis, Orthokeratosis |
OMIM:607936 |
| Neurodevelopmental Disorder With Cerebral Atrophy And Variable Facial Dysmorphism |
|
Highly arched eyebrow, Cryptorchidism, Low anterior hairline, Hirsutism, Woolly hair, Broad eyebrow |
OMIM:619244 |
| Bjornstad Syndrome |
|
Anhidrosis, Alopecia, Brittle hair, Dry hair, Coarse hair, Hypogonadism, Hair shafts flattened at... |
OMIM:262000 |
| Arboleda-Tham Syndrome |
|
Recurrent urinary tract infections, Highly arched eyebrow, Bilateral cryptorchidism, Patent ductu... |
OMIM:616268 |
| Velocardiofacial Syndrome |
|
Hypoparathyroidism, Cryptorchidism, Short stature, Impaired T cell function |
OMIM:192430 |
| Erythrokeratodermia Variabilis Et Progressiva 3 |
|
Hypergranulosis, Leukonychia, Hyperkeratosis, Palmoplantar keratoderma, Orthokeratosis |
OMIM:617525 |
| 15Q Overgrowth Syndrome |
|
Contracture of the proximal interphalangeal joint of the 2nd finger, Ureterovesical stenosis, Abn... |
ORPHA:314585 |
| Milroy Disease |
|
Hydrocele testis, Hyperkeratosis, Toenail dysplasia |
ORPHA:79452 |
| Glycosylphosphatidylinositol Biosynthesis Defect 25 |
|
Sparse hair, Coarse hair, Short stature, Ankle flexion contracture |
OMIM:619985 |
| Punctate Palmoplantar Keratoderma Type 1 |
|
Pancreatic adenocarcinoma, Hypergranulosis, Palmoplantar hyperkeratosis, Renal cell carcinoma, Pa... |
ORPHA:79501 |
| Infantile Cataract, Skin Abnormalities, Glutamate Excess, And Impaired Intellectual Development |
|
Hyperkeratosis, Parakeratosis |
OMIM:618339 |
| Focal Dermal Hypoplasia |
|
Ridged nail, Ureteral duplication, Brittle hair, Short stature, Diastasis recti, Supernumerary ni... |
OMIM:305600 |
| Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities |
|
Urethral stricture, Exaggerated startle response, Hypospadias, Urinary incontinence, Renal agenes... |
OMIM:619522 |
| Congenital Myopathy 17 |
|
Failure to thrive in infancy, Renal hypoplasia, Myopathy, Distal arthrogryposis, Diaphragmatic ev... |
OMIM:618975 |
| Peters-Plus Syndrome |
|
Ureteral duplication, Hypoplasia of the vagina, Hypospadias, Bilobate gallbladder, Diastasis rect... |
OMIM:261540 |
| De Sanctis-Cacchione Syndrome |
|
Parakeratosis, Severe short stature, Ataxia, Bilateral cryptorchidism, Babinski sign, Scissor gai... |
OMIM:278800 |
| Trichodental Dysplasia |
|
Sparse hair, Brittle hair, Slow-growing hair, Fine hair |
OMIM:601453 |
| Lipoid Proteinosis |
|
Hyperkeratosis, Thickened skin, Alopecia of scalp |
ORPHA:530 |
| Björnstad Syndrome |
|
Alopecia, Brittle hair, Hypogonadism |
ORPHA:123 |
| Turner Syndrome Due To Structural X Chromosome Anomalies |
|
Ectopic kidney, Hypoplastic toenails, Hyperconvex fingernails, Hepatic fibrosis, Hepatic steatosi... |
ORPHA:99413 |
| Mosaic Monosomy X |
|
Ectopic kidney, Hypoplastic toenails, Hyperconvex fingernails, Hepatic fibrosis, Hepatic steatosi... |
ORPHA:99228 |
| Monosomy X |
|
Ectopic kidney, Hypoplastic toenails, Hyperconvex fingernails, Hepatic fibrosis, Hepatic steatosi... |
ORPHA:99226 |
| Turner Syndrome |
|
Ectopic kidney, Hypoplastic toenails, Hyperconvex fingernails, Hepatic fibrosis, Hepatic steatosi... |
ORPHA:881 |
| Bor Syndrome |
|
Renal insufficiency, Multicystic kidney dysplasia, Facial palsy, Renal hypoplasia/aplasia, Vesico... |
ORPHA:107 |
| Epidermolysis Bullosa Simplex With Pyloric Atresia |
|
Renal dysplasia, Abnormality of the urethra, Scarring alopecia of scalp, Flexion contracture, Abn... |
ORPHA:158684 |
| Premature Aging Syndrome, Penttinen Type |
|
Flexion contracture of finger, Thickened skin, Elevated circulating thyroid-stimulating hormone c... |
OMIM:601812 |
| Hypotrichosis 8 |
|
Ridged nail, Sparse scalp hair, Dry hair, Sparse eyelashes, Sparse axillary hair, Sparse eyebrow,... |
OMIM:278150 |
| Scalp-Ear-Nipple Syndrome |
|
Renal insufficiency, Short stature, Unilateral renal agenesis, Sparse axillary hair, Sparse pubic... |
OMIM:181270 |
| Vulto-Van Silfhout-De Vries Syndrome |
|
Widow's peak, Horizontal eyebrow, Fine hair |
OMIM:615828 |
| Hall-Riggs Syndrome |
|
Short stature, Thick hair, Slow-growing hair, Coarse hair, Failure to thrive |
ORPHA:2107 |
| Alström Syndrome |
|
Decreased response to growth hormone stimulation test, Urinary incontinence, Functional abnormali... |
ORPHA:64 |
| Peters Plus Syndrome |
|
Ureteral duplication, Multicystic kidney dysplasia, Hypospadias, Short stature, Rhizomelia, Renal... |
ORPHA:709 |
| Melnick-Needles Syndrome |
|
Vesicoureteral reflux, Short stature, Hydronephrosis |
ORPHA:2484 |
| Hair Defect With Photosensitivity And Mental Retardation |
|
Brittle hair, Sparse eyelashes, Sparse eyebrow, Coarse hair, Sparse hair |
OMIM:234030 |
| Vacterl Association, X-Linked, With Or Without Hydrocephalus |
|
Neonatal death, Urethral atresia, Hydronephrosis, Enlarged kidney |
OMIM:314390 |
| Myhre Syndrome |
|
Small for gestational age, Ataxia, Short stature, Cryptorchidism, Patent ductus arteriosus, Gener... |
OMIM:139210 |
| Vesicoureteral Reflux 3 |
|
Ureteropelvic junction obstruction, Grade IV vesicoureteral reflux, Recurrent urinary tract infec... |
OMIM:613674 |
| X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type |
|
Hyperkeratosis, Rhizomelia, Short stature, Intrauterine growth retardation |
ORPHA:163966 |
| Fraser Syndrome 1 |
|
Encephalocele, Myelomeningocele, Anophthalmia, Bilateral microphthalmos |
OMIM:219000 |
| Harlequin Ichthyosis |
|
Hyperkeratosis, Congenital ichthyosiform erythroderma, Ichthyosis |
ORPHA:457 |
| Glycogen Storage Disease Due To Lactate Dehydrogenase M-Subunit Deficiency |
|
Exercise-induced rhabdomyolysis, Parakeratosis, Exercise-induced myoglobinuria, Chronic kidney di... |
ORPHA:284426 |
| Bardet-Biedl Syndrome 12 |
|
Hydroureter, Hydrometrocolpos, Obesity, Cystic renal dysplasia, Hypogonadism, Vaginal atresia, Hy... |
OMIM:615989 |
| Trichorhinophalangeal Syndrome, Type I |
|
Scapular winging, Short stature, Thin nail, Slow-growing hair, Concave nail, Leukonychia, Fine ha... |
OMIM:190350 |
| X-Linked Parkinsonism-Spasticity Syndrome |
|
Resting tremor, Babinski sign, Scissor gait, Cogwheel rigidity, Bradykinesia, Ankle clonus, Spast... |
ORPHA:363654 |
| Opitz-Kaveggia Syndrome |
|
Multiple joint contractures, Hypospadias, Short stature, Cryptorchidism, Fine hair, Frontal upswe... |
OMIM:305450 |
| Oeis Complex |
|
Duplicated collecting system, Hydroureter, Renal agenesis, Bifid uterus, Cryptorchidism, Epispadi... |
OMIM:258040 |
| Tyrosinemia Type 2 |
|
Ataxia, Tremor, Hyperhidrosis, Hyperkeratosis, Palmoplantar keratoderma, Abnormality of the nail |
ORPHA:28378 |
| Deafness, Unilateral, With Delayed Endolymphatic Hydrops |
|
Edema |
OMIM:612097 |
| Keratosis Follicularis Spinulosa Decalvans, X-Linked |
|
Sparse eyelashes, Sparse eyebrow, Scarring alopecia of scalp, Palmoplantar keratoderma, Nail dyst... |
OMIM:308800 |
| Floating-Harbor Syndrome |
|
Speech apraxia, Hypospadias, Small for gestational age, Renal agenesis, Short stature, Precocious... |
ORPHA:2044 |
| Tetrasomy 9P |
|
Renal dysplasia, Absent gallbladder, Recurrent urinary tract infections, Myositis, Cryptorchidism... |
ORPHA:3310 |
| Hypotrichosis 13 |
|
Sparse hair, Woolly hair, Sparse eyelashes, Abnormal sweat gland morphology |
OMIM:615896 |
| Hypotrichosis And Recurrent Skin Vesicles |
|
Sparse scalp hair, Sparse eyelashes, Sparse axillary hair, Sparse eyebrow, Leukonychia, Follicula... |
OMIM:613102 |
| Ichthyosis, Congenital, Autosomal Recessive 8 |
|
Orthokeratosis, Hyperkeratosis, Hypergranulosis, Ichthyosis |
OMIM:613943 |
| Marie Unna Hereditary Hypotrichosis |
|
Sparse scalp hair, Alopecia, Sparse or absent eyelashes, Coarse hair, Aplasia/Hypoplasia of the e... |
ORPHA:444 |
| Cat Eye Syndrome |
|
Renal agenesis, Short stature, Patent ductus arteriosus, Biliary atresia, Horseshoe kidney, Vesic... |
OMIM:115470 |
| Microphthalmia With Linear Skin Defects Syndrome |
|
Microphthalmia, Anophthalmia |
ORPHA:2556 |
| Meige Disease |
|
Lymph node hypoplasia, Cobblestone-like hyperkeratosis, Absence of lymph node germinal center |
ORPHA:90186 |
| Pelizaeus-Merzbacher Disease In Female Carriers |
|
Lower limb spasticity, Neurogenic bladder, Babinski sign, Growth delay, Spastic paraparesis, Hand... |
ORPHA:280229 |
| X-Linked Charcot-Marie-Tooth Disease Type 2 |
|
Distal lower limb amyotrophy, Clasp-knife sign, Tibialis anterior muscle atrophy, Peroneal muscle... |
ORPHA:101076 |
| Trichodermodysplasia-Dental Alterations Syndrome |
|
Sparse scalp hair, Brittle hair, Fine hair, Sparse or absent eyelashes, Palmoplantar keratoderma,... |
ORPHA:3353 |
| Fontaine Progeroid Syndrome |
|
Small scrotum, Hypoplasia of the abdominal wall musculature, Synophrys, Low anterior hairline, Co... |
OMIM:612289 |
| Raine Syndrome |
|
Hydroureter, Short stature, Highly arched eyebrow, Neonatal death, Arthrogryposis multiplex conge... |
OMIM:259775 |
| Ectodermal Dysplasia 11A, Hypohidrotic/Hair/Tooth Type, Autosomal Dominant |
|
Anhidrosis, Brittle hair, Absent nipple, Hypohidrosis, Sparse hair, Absent hair |
OMIM:614940 |
| Thakker-Donnai Syndrome |
|
Intrauterine growth retardation, Rectovaginal fistula, Hydronephrosis, Congenital diaphragmatic h... |
ORPHA:1780 |
| Porokeratosis 3, Multiple Types |
|
Parakeratosis, Porokeratosis, Nail dystrophy |
OMIM:175900 |
| Alacrima, Achalasia, And Impaired Intellectual Development Syndrome |
|
Ataxia, High anterior hairline, Hypohidrosis, Hyperkeratosis, Adrenal insufficiency, Spasticity |
OMIM:615510 |
| Mandibuloacral Dysplasia With Type B Lipodystrophy |
|
Alopecia, Brittle hair, Insulin-resistant diabetes mellitus, Flexion contracture, Hyperinsulinemi... |
OMIM:608612 |
| Ectodermal Dysplasia 1, Hypohidrotic, X-Linked |
|
Anhidrosis, Absent eyebrow, Absent nipple, Brittle hair, Sparse eyelashes, Concave nail, Aplasia/... |
OMIM:305100 |
| Erythrokeratodermia Variabilis Et Progressiva 7 |
|
Woolly hair, Anhidrosis, Dystrophic toenail, Palmoplantar hyperkeratosis |
OMIM:619209 |
| Pityriasis Rubra Pilaris |
|
Subungual hyperkeratosis, Parakeratosis, Hypergranulosis, Palmoplantar keratoderma, Orthokeratosis |
OMIM:173200 |
| Arrhythmogenic Right Ventricular Dysplasia, Familial, 12 |
|
Woolly hair, Palmoplantar keratoderma |
OMIM:611528 |
| Ectodermal Dysplasia 13, Hair/Tooth Type |
|
Brittle hair, Sparse eyelashes, Low anterior hairline, Thin eyebrow |
OMIM:617392 |
| Cardiomyopathy, Dilated, With Woolly Hair And Keratoderma |
|
Alopecia, Sparse eyelashes, Acantholysis, Sparse eyebrow, Palmoplantar hyperkeratosis, Palmoplant... |
OMIM:605676 |
| Proboscis Lateralis |
|
Microphthalmia, Anophthalmia, Optic nerve hypoplasia |
ORPHA:141099 |
| Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion |
|
Recurrent urinary tract infections, Hypospadias, Short stature, Cryptorchidism, Patent ductus art... |
ORPHA:353281 |
| Marshall-Smith Syndrome |
|
Brittle hair, Short stature, Highly arched eyebrow, Bilateral cryptorchidism, Cryptorchidism, Pat... |
OMIM:602535 |
| Mednik Syndrome |
|
Hyperkeratosis, Intrahepatic cholestasis, Ichthyosis |
ORPHA:171851 |
| Hallermann-Streiff Syndrome |
|
Sparse scalp hair, Small for gestational age, Sparse eyelashes, Proportionate short stature, Spar... |
OMIM:234100 |
| Fraser Syndrome |
|
Encephalocele, Anophthalmia, Myelomeningocele, Umbilical hernia, Microphthalmia |
ORPHA:2052 |
| Mckusick-Kaufman Syndrome |
|
Hydroureter, Cryptorchidism, Transverse vaginal septum, Hydrometrocolpos, Rectovaginal fistula, V... |
OMIM:236700 |
| Xanthinuria, Type I |
|
Xanthine nephrolithiasis, Xanthinuria, Pyelonephritis, Myopathy, Hydronephrosis |
OMIM:278300 |
| Orofaciodigital Syndrome Type 3 |
|
Abnormality of hair texture, Stage 5 chronic kidney disease, Myoclonus, Oculomotor apraxia, Spast... |
ORPHA:2752 |
| Hyperkeratosis Lenticularis Perstans |
|
Hyperkeratosis lenticularis perstans |
ORPHA:409 |
| Pachyonychia Congenita 2 |
|
Subungual hyperkeratosis, Sparse scalp hair, Dry hair, Sparse eyebrow, Palmoplantar hyperkeratosi... |
OMIM:167210 |
| Woolly Hair, Autosomal Dominant |
|
Abnormal eyebrow morphology, Dry hair, Slow-growing hair, Abnormal eyelash morphology, Palmoplant... |
OMIM:194300 |
| Microphthalmia, Syndromic 2 |
|
Microphthalmia, Anophthalmia, Umbilical hernia |
OMIM:300166 |
| Coasy Protein-Associated Neurodegeneration |
|
Parkinsonism, Spastic paraparesis |
ORPHA:397725 |
| Campomelic Dysplasia |
|
Ambiguous genitalia, Male pseudohermaphroditism, Short stature, Hydronephrosis |
ORPHA:140 |
| Woodhouse-Sakati Syndrome |
|
Decreased serum testosterone concentration, Decreased serum insulin-like growth factor 1, Diabete... |
OMIM:241080 |
| Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency |
|
Recurrent urinary tract infections, Hypospadias, Abnormality of the kidney, Short stature, Highly... |
ORPHA:353284 |
| Rubinstein-Taybi Syndrome Due To Crebbp Mutations |
|
Recurrent urinary tract infections, Hypospadias, Abnormality of the kidney, Short stature, Highly... |
ORPHA:353277 |
| Ichthyosis Prematurity Syndrome |
|
Alopecia of scalp, Generalized ichthyosis, Follicular hyperkeratosis |
OMIM:608649 |
| Irida Syndrome |
|
Hyperkeratosis, Intrahepatic cholestasis, Ichthyosis |
ORPHA:209981 |
| Intellectual Developmental Disorder, Fra12A Type |
|
Hyperkeratosis |
OMIM:136630 |
| Brachycephaly, Trichomegaly, And Developmental Delay |
|
Brittle hair, Short stature, Highly arched eyebrow, Synophrys, Long eyelashes, Thick eyebrow |
OMIM:617412 |
| Orofaciodigital Syndrome I |
|
Dry hair, Alopecia, Proteinuria, Short stature, Pancreatic cysts, Ovarian cyst, Hepatic fibrosis,... |
OMIM:311200 |
| Lichen Planus Pemphigoides |
|
Hyperkeratosis, Abnormality of the nail |
ORPHA:254478 |
| Otopalatodigital Syndrome Type 2 |
|
Hypospadias, Camptodactyly of finger, Ureteral obstruction, Failure to thrive, Hydronephrosis |
ORPHA:90652 |
| Foix-Alajouanine Syndrome |
|
Distal lower limb amyotrophy, Neurogenic bladder, Urinary incontinence, Progressive spastic parap... |
ORPHA:79093 |
| X-Linked Intellectual Disability, Golabi-Ito-Hall Type |
|
Dry hair, Brittle hair, Short stature, Spastic diplegia, Growth delay, Macroglossia, Nail dystrop... |
ORPHA:93947 |
| Frontometaphyseal Dysplasia |
|
Interphalangeal joint contracture of finger, Hypoplasia of the musculature, Ureteral obstruction,... |
ORPHA:1826 |
| Floating-Harbor Syndrome |
|
Hypospadias, Short stature, Cryptorchidism, Generalized hypertrichosis, Glandular hypospadias, Va... |
OMIM:136140 |
| Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate Syndrome |
|
Sparse eyelashes, Hyperconvex nail, Supernumerary nipple, Sparse eyebrow, Hypohidrosis, Hyperconv... |
ORPHA:1071 |
| Mycetoma |
|
Cobblestone-like hyperkeratosis, Abnormality of the lymphatic system, Paraplegia |
ORPHA:2583 |
| Autosomal Recessive Spastic Paraplegia Type 55 |
|
Lower limb spasticity, Skeletal muscle atrophy, Tibialis muscle weakness, Babinski sign, Poor fin... |
ORPHA:320375 |
| Erythrokeratodermia Variabilis Et Progressiva 1 |
|
Generalized hyperkeratosis, Patchy palmoplantar hyperkeratosis, Hypergranulosis |
OMIM:133200 |
| Neurofibromatosis Type 1 Due To Nf1 Mutation Or Intragenic Deletion |
|
Lower limb dysmetria, Short stature, Renal hypoplasia/aplasia, Abnormal renal morphology, Granulo... |
ORPHA:363700 |
| Cataracts, Spastic Paraparesis, And Speech Delay |
|
Spastic paraparesis |
OMIM:619338 |
| Adult Syndrome |
|
Sparse scalp hair, Alopecia, Absent nipple, Breast hypoplasia, Nail pits, Fine hair, Hypoplastic ... |
ORPHA:978 |
| Feingold Syndrome Type 1 |
|
Renal dysplasia, Renal insufficiency, Short stature, Abnormality of the kidney, Patent ductus art... |
ORPHA:391641 |
| Amaurosis-Hypertrichosis Syndrome |
|
Abnormal eyelash morphology, Synophrys, Coarse hair, Thick eyebrow |
ORPHA:1021 |
| Psoriasis 2 |
|
Hyperkeratosis, Parakeratosis |
OMIM:602723 |
| Peeling Skin With Leukonychia, Acral Punctate Keratoses, Cheilitis, And Knuckle Pads |
|
Acantholysis, Punctate palmoplantar hyperkeratosis, Leukonychia, Hyperkeratosis, Onycholysis, Fol... |
OMIM:616295 |
| Palmoplantar Carcinoma, Multiple Self-Healing |
|
Parakeratosis, Palmoplantar keratoderma, Nail dystrophy, Follicular hyperkeratosis |
OMIM:615225 |
| Robinow Syndrome, Autosomal Dominant 1 |
|
Short stature, Rhizomelia, Cryptorchidism, Hypoplastic labia majora, Macroglossia, Clitoral hypop... |
OMIM:180700 |
| Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 2 |
|
Postnatal growth retardation, Intrauterine growth retardation, Brittle hair, Hypospadias |
OMIM:619184 |
| Porokeratosis 7, Multiple Types |
|
Parakeratosis, Porokeratosis |
OMIM:614714 |
| Porokeratosis 1, Multiple Types |
|
Parakeratosis, Porokeratosis |
OMIM:175800 |
| 46,Xx Difference Of Sex Development-Skeletal Anomalies Syndrome |
|
Fused labia minora, Ambiguous genitalia, female, Primary amenorrhea, Abnormality of the uterus, A... |
ORPHA:2975 |
| Progeroid Short Stature With Pigmented Nevi |
|
Diabetes mellitus, Small for gestational age, Impaired T cell function, Hypospadias, Short statur... |
OMIM:176690 |
| Hyperpigmentation With Or Without Hypopigmentation, Familial Progressive |
|
Hyperkeratosis |
OMIM:145250 |
| Pfeiffer Syndrome Type 3 |
|
Vesicoureteral reflux, Hydronephrosis, Horseshoe kidney |
ORPHA:93260 |
| Microphthalmia With Limb Anomalies |
|
Microphthalmia, True anophthalmia |
ORPHA:1106 |
| Menkes Disease |
|
Hypopigmentation of hair, Thickened skin, Chorea, Aplasia/Hypoplasia of the abdominal wall muscul... |
ORPHA:565 |
| Global Developmental Delay-Osteopenia-Ectodermal Defect Syndrome |
|
Scapular winging, Hypophosphaturia, Abnormality of hair texture, Thickened skin, Synophrys, Hypop... |
ORPHA:73223 |
| Galloway-Mowat Syndrome 9 |
|
Diffuse mesangial sclerosis, Stage 5 chronic kidney disease, Choreoathetosis, Focal segmental glo... |
OMIM:619603 |
| Melnick-Needles Syndrome |
|
Ureteral stenosis, Coarse hair, Stillbirth, Frontal hirsutism, Failure to thrive, Hydronephrosis |
OMIM:309350 |
| 46,Xx Difference Of Sex Development-Anorectal Anomalies Syndrome |
|
Abnormal internal genitalia, Multicystic kidney dysplasia, Hydroureter, Renal hypoplasia/aplasia,... |
ORPHA:2973 |
| Homocystinuria Due To Methylene Tetrahydrofolate Reductase Deficiency |
|
Lower limb spasticity, Ataxia, Lower limb muscle weakness, Hemiparesis, Spastic paraparesis, Fail... |
ORPHA:395 |
| Epidermolysis Bullosa Simplex With Circinate Migratory Erythema |
|
Parakeratosis, Nail dystrophy, Palmoplantar hyperkeratosis |
ORPHA:158681 |
| Tricho-Retino-Dento-Digital Syndrome |
|
Uncombable hair, Sparse hair |
ORPHA:1264 |
| Junctional Epidermolysis Bullosa With Pyloric Atresia |
|
Urethral stricture, Urinary bladder inflammation, Hydronephrosis, Hematuria, Aplasia of the bladd... |
ORPHA:79403 |
| Penile Agenesis |
|
Urethral atresia, male, Hydroureter, Maternal diabetes, Cryptorchidism, Fetal pyelectasis, Bilate... |
ORPHA:49 |
| Lacrimoauriculodentodigital Syndrome |
|
Cryptorchidism, Patent ductus arteriosus, Xerostomia, Renal hypoplasia, Bicornuate uterus, Nail d... |
ORPHA:2363 |
| Odontochondrodysplasia 2 With Hearing Loss And Diabetes |
|
Proportionate short stature, Precocious puberty, Obesity, Growth delay, Type I diabetes mellitus,... |
OMIM:619269 |
| Genitopatellar Syndrome |
|
Hip contracture, Multicystic kidney dysplasia, Small scrotum, Sparse scalp hair, Enlarged labia m... |
OMIM:606170 |
| Ablepharon Macrostomia Syndrome |
|
Absent eyebrow, Hypoplasia of penis, Camptodactyly of finger, Abnormal hair pattern, Absent eyela... |
ORPHA:920 |
| Restrictive Dermopathy |
|
Ureteral duplication, Multiple joint contractures, Hypospadias, Camptodactyly of finger, Short na... |
ORPHA:1662 |
| Argininemia |
|
Hepatomegaly, Postnatal growth retardation, Micronodular cirrhosis, Cholestasis, Progressive spas... |
OMIM:207800 |
| Neurodegeneration With Brain Iron Accumulation 5 |
|
Parkinsonism, Tremor, Rigidity, Bradykinesia, Spastic paraparesis |
OMIM:300894 |
| Oculodentodigital Dysplasia, Autosomal Recessive |
|
Short stature, Sparse eyelashes, Fine hair, Sparse hair, Failure to thrive |
OMIM:257850 |
| Ichthyosis, Annular Epidermolytic, 2 |
|
Orthokeratosis, Palmoplantar keratoderma, Palmoplantar hyperkeratosis, Ichthyosis |
OMIM:620148 |
| Cranioectodermal Dysplasia 3 |
|
Rhizomelia, Short stature, Short nail, Stage 5 chronic kidney disease, Broad nail, Fine hair, Cir... |
OMIM:614099 |
| Gorlin-Chaudhry-Moss Syndrome |
|
Short stature, Patent ductus arteriosus, Low anterior hairline, Coarse hair, Generalized hirsutism |
ORPHA:2095 |
| Mitochondrial Complex Iii Deficiency, Nuclear Type 1 |
|
Brittle hair, Ataxia, Cholangitis, Microvesicular hepatic steatosis, Ragged-red muscle fibers, Rh... |
OMIM:124000 |
| Spinocerebellar Ataxia-Dysmorphism Syndrome |
|
Coarse hair, Short stature |
ORPHA:1185 |
| Cerebellofaciodental Syndrome |
|
Sparse eyebrow, Cryptorchidism, Short stature, Fine hair |
OMIM:616202 |
| Hemihyperplasia-Multiple Lipomatosis Syndrome |
|
Abnormality of the lymphatic system, Hyperparakeratosis, Hydrocele testis, Nephroblastoma, Ovaria... |
ORPHA:276280 |
| Erythrokeratodermia Variabilis Et Progressiva 6 |
|
Parakeratosis |
OMIM:618531 |
| 6Q Terminal Deletion Syndrome |
|
Hypospadias, Highly arched eyebrow, Phimosis, Low anterior hairline, Obesity, Dysmetria, Gait ata... |
ORPHA:75857 |
| Neurodevelopmental Disorder With Ataxia, Hypotonia, And Microcephaly |
|
Dry hair, Low anterior hairline, Intrinsic hand muscle atrophy, Spasticity, Hypothyroidism |
OMIM:618569 |
| Ehlers-Danlos Syndrome, Musculocontractural Type, 1 |
|
Diastasis recti, Cryptorchidism, Nephrotic syndrome, Distal arthrogryposis, Arthrogryposis multip... |
OMIM:601776 |
| Campomelic Dysplasia |
|
Hypospadias, Short nail, Contracture of the distal interphalangeal joint of the fingers, Sex reve... |
OMIM:114290 |
| Oculocutaneous Albinism Type 1A |
|
Hyperkeratosis, Thickened skin, Hypopigmentation of hair, Albinism |
ORPHA:79431 |
| Argininosuccinic Aciduria |
|
Hepatomegaly, Dry hair, Brittle hair, Ataxia, Oroticaciduria, Aminoaciduria, Hepatic fibrosis, Fa... |
OMIM:207900 |
| Occipital Horn Syndrome |
|
Ureteral obstruction, Growth delay, Bladder diverticulum, Coarse hair, Pili torti, Hydronephrosis |
OMIM:304150 |
| Al-Gazali Syndrome |
|
Failure to thrive, Wrist flexion contracture, Hydronephrosis |
OMIM:609465 |
| Conductive Deafness-Ptosis-Skeletal Anomalies Syndrome |
|
Fine hair |
ORPHA:3236 |
| Craniolenticulosutural Dysplasia |
|
Brittle hair, Short stature, Cryptorchidism, Coarse hair, Sparse hair |
OMIM:607812 |
| White Sponge Nevus 2 |
|
Hyperparakeratosis |
OMIM:615785 |
| Branchiooculofacial Syndrome |
|
Microphthalmia, Branchial anomaly, Anophthalmia, Intrauterine growth retardation |
OMIM:113620 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13 |
|
Decreased testicular size, Multicystic kidney dysplasia, Spasticity, Muscular dystrophy, Micropen... |
OMIM:615287 |
| Vater/Vacterl Association |
|
Renal dysplasia, Hypospadias, Renal agenesis, Ectopic kidney, Postnatal growth retardation, Paten... |
OMIM:192350 |
| Witteveen-Kolk Syndrome |
|
Medial flaring of the eyebrow, Small for gestational age, Unilateral cryptorchidism, Decreased re... |
OMIM:613406 |
| Pachyonychia Congenita 1 |
|
Nail dystrophy, Follicular hyperkeratosis, Palmoplantar hyperkeratosis, Onychogryposis |
OMIM:167200 |
| Knobloch Syndrome 1 |
|
Duplicated collecting system, Ataxia, Patent ductus arteriosus, Alopecia of scalp, Horizontal eye... |
OMIM:267750 |
| Pruritic Urticarial Papules And Plaques Of Pregnancy |
|
Parakeratosis, Increased body weight |
ORPHA:64745 |
| Primary Lateral Sclerosis |
|
Weakness due to upper motor neuron dysfunction, Progressive spastic paraparesis, Babinski sign, S... |
ORPHA:35689 |
| Palmoplantar Keratoderma, Punctate Type Ia |
|
Orthokeratosis, Punctate palmoplantar hyperkeratosis, Hypergranulosis |
OMIM:148600 |
| Monosomy 22Q13.3 |
|
Hypoplastic toenails, Obesity, Hypohidrosis, Hydronephrosis, Long eyelashes, Vesicoureteral reflu... |
ORPHA:48652 |
| Familial Keratoacanthoma |
|
Hyperkeratosis, Adenoma sebaceum |
ORPHA:493 |
| 15q26 overgrowth syndrome |
|
Renal agenesis, Abnormality of the kidney, Camptodactyly of finger, Horseshoe kidney, Duplication... |
DECIPHER:81 |
| Ectodermal Dysplasia-Skin Fragility Syndrome |
|
Urethral stricture, Short stature, Hypohidrosis, Palmoplantar keratoderma, Anoperineal fistula, F... |
ORPHA:158668 |
| Visceral Myopathy 1 |
|
Megacystis, Hydronephrosis, Urinary retention, Vesicoureteral reflux, Pancreatitis |
OMIM:155310 |
| Renpenning Syndrome 1 |
|
Brittle hair, Hypospadias, Short stature, Phimosis, Renal hypoplasia, Camptodactyly, Sparse hair,... |
OMIM:309500 |
| Cerebrofaciothoracic Dysplasia |
|
Short stature, Abnormal hair pattern, Synophrys, Low posterior hairline, Coarse hair, Thick eyebrow |
ORPHA:1394 |
| Rodrigues Blindness |
|
Sparse hair, Short stature, Fine hair |
OMIM:268320 |
| Pili Torti, Early-Onset |
|
Dry hair, Brittle hair, Coarse hair, Hair shafts flattened at irregular intervals and twisted thr... |
OMIM:261900 |
| Cranioectodermal Dysplasia 1 |
|
Hepatomegaly, Rhizomelia, Thin nail, Malformation of the hepatic ductal plate, Short nail, Renal ... |
OMIM:218330 |
| Warburg-Cinotti Syndrome |
|
Ankle flexion contracture, Elbow flexion contracture, Follicular hyperkeratosis, Flexion contract... |
OMIM:618175 |
| Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies |
|
Absent external genitalia, Urethral atresia, Aplasia of the vagina, Aplasia of the uterus, Hydron... |
OMIM:271520 |
| Tylosis With Esophageal Cancer |
|
Diffuse palmoplantar hyperkeratosis, Parakeratosis, Follicular hyperkeratosis |
OMIM:148500 |
| Otopalatodigital Syndrome, Type Ii |
|
Hypospadias, Elbow contracture, Short stature, Postnatal growth retardation, Cryptorchidism, Wido... |
OMIM:304120 |
| Microphthalmia, Syndromic 6 |
|
Microphthalmia, Anophthalmia |
OMIM:607932 |
| Chondrodysplasia Punctata, Autosomal Dominant |
|
Hip contracture, Hyperkeratosis with erythema, Moderate postnatal growth retardation, Knee flexio... |
OMIM:118650 |
| Restrictive Dermopathy 1 |
|
Ureteral duplication, Limb joint contracture, Hypospadias, Adrenal hypoplasia, Epidermal hyperker... |
OMIM:275210 |
| Short Rib-Polydactyly Syndrome, Verma-Naumoff Type |
|
Hypoplasia of penis, Urethrovaginal fistula, Cryptorchidism, Congenital hepatic fibrosis, Renal h... |
ORPHA:93271 |
| Epidermal Nevus Syndrome |
|
Rhabdomyosarcoma, Progressive spastic paraparesis, Babinski sign, Weakness of long finger extenso... |
ORPHA:35125 |
| Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 2 |
|
Skeletal muscle atrophy, Patent ductus arteriosus, Bladder diverticulum, Myopathy, Type 1 muscle ... |
OMIM:614557 |
| Singleton-Merten Syndrome 2 |
|
Hyperkeratosis, Short stature |
OMIM:616298 |
| Sabinas Brittle Hair Syndrome |
|
Dry hair, Brittle hair, Nail dystrophy, Nail dysplasia, Sparse hair |
OMIM:211390 |
| Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 3 |
|
Hydroureter, Megacystis, Fetal megacystis, Neonatal death, Hydronephrosis |
OMIM:619362 |
| Peeling Skin Syndrome 6 |
|
Orthokeratosis, Parakeratosis |
OMIM:618084 |
| Familial Benign Chronic Pemphigus |
|
Hyperkeratosis, Acantholysis |
ORPHA:2841 |
| Subacute Cutaneous Lupus Erythematosus |
|
Hyperkeratosis |
ORPHA:163525 |
| Seborrhea-Like Dermatitis With Psoriasiform Elements |
|
Hyperkeratosis |
OMIM:610227 |
| Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 5 |
|
Hydroureter, Megacystis, Hydronephrosis, Portal hypertension |
OMIM:619431 |
| Biotinidase Deficiency |
|
Alopecia, Ataxia, Organic aciduria, Spastic paraparesis, Limb muscle weakness |
ORPHA:79241 |
| Eales Disease |
|
Spastic paraparesis |
ORPHA:40923 |
| Uncombable Hair Syndrome 1 |
|
Uncombable hair, Dry hair, Pili canaliculi |
OMIM:191480 |
| Arrhythmogenic Right Ventricular Dysplasia, Familial, 8 |
|
Woolly hair |
OMIM:607450 |
| Fatty Acid Hydroxylase-Associated Neurodegeneration |
|
Progressive spastic paraparesis, Progressive spastic quadriplegia, Progressive gait ataxia, Progr... |
ORPHA:329308 |
| Reactive Arthritis |
|
Recurrent urinary tract infections, Weight loss, Hyperkeratosis, Dystrophic fingernails, Abnormal... |
ORPHA:29207 |
| Atresia Of Urethra |
|
Renal dysplasia, Renal insufficiency, Bladder fistula, Hydroureter, Recurrent urinary tract infec... |
ORPHA:105 |
| Kyphoscoliotic Ehlers-Danlos Syndrome |
|
Skeletal muscle atrophy, Short stature, Synophrys, Bladder diverticulum, Myopathy, Follicular hyp... |
ORPHA:536545 |
| Craniolenticulosutural Dysplasia |
|
Sparse hair, Coarse hair, Brittle hair, Short stature |
ORPHA:50814 |
| Branchial Myoclonus With Spastic Paraparesis And Cerebellar Ataxia |
|
Spastic paraparesis, Palatal tremor, Truncal ataxia |
OMIM:113610 |
| Ramon Syndrome |
|
Short stature, Enlarged labia minora, Hyperkeratosis, Decreased body weight, Hypertrichosis |
OMIM:266270 |
| Pachyonychia Congenita 3 |
|
Plantar hyperkeratosis, Onychogryposis of toenails, Hyperhidrosis, Palmoplantar keratoderma, Nail... |
OMIM:615726 |
| Autosomal Recessive Faciodigitogenital Syndrome |
|
Dry hair, Hypopigmentation of hair, Short stature, Widow's peak, Coarse hair, Shawl scrotum |
ORPHA:1974 |
| Holoprosencephaly 3 |
|
Central diabetes insipidus, Hydronephrosis |
OMIM:142945 |
| Craniofacial Microsomia 1 |
|
Microphthalmia, Occipital encephalocele, Anophthalmia, Branchial anomaly |
OMIM:164210 |
| Arrhythmogenic Right Ventricular Dysplasia, Familial, 10 |
|
Woolly hair |
OMIM:610193 |
| Mesomelia-Synostoses Syndrome |
|
Mesomelic short stature, Hydronephrosis |
OMIM:600383 |
| Vascular Ehlers-Danlos Syndrome |
|
Alopecia, Hypospadias, Short stature, Abnormality of hair texture, Abnormal eyelash morphology, C... |
ORPHA:286 |
| Hypoplasminogenemia |
|
Nephrolithiasis, Cervicitis, Abnormality of the ovary, Abnormal fallopian tube morphology |
ORPHA:722 |
| Occipital Horn Syndrome |
|
Recurrent urinary tract infections, Thick hair, Jaundice, Hepatitis, Cholestasis, Bladder diverti... |
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 |
|
Sparse scalp hair, Renal insufficiency, Proteinuria, Sparse eyelashes, Sparse eyebrow, Fine hair,... |
OMIM:614748 |
| Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities |
|
Small scrotum, Hydronephrosis |
OMIM:620330 |
| Coffin-Lowry Syndrome |
|
Short stature, Highly arched eyebrow, Hyperconvex fingernails, Coarse hair, Decreased body weight... |
OMIM:303600 |
| Osteogenesis Imperfecta, Type Vii |
|
Rhizomelia, Short stature, Hydronephrosis |
OMIM:610682 |
| Kanzaki Disease |
|
Hyperkeratosis, Increased urinary O-linked sialopeptides, Aminoaciduria |
OMIM:609242 |
| Cardiac Valvular Dysplasia 1 |
|
Urethral diverticulum, Hydroureter, Hydronephrosis |
OMIM:212093 |
| Neuroocular Syndrome |
|
Scapular winging, Brittle hair, Short stature, Highly arched eyebrow, Synophrys, Long eyelashes, ... |
OMIM:619539 |
| Alpha-N-Acetylgalactosaminidase Deficiency Type 2 |
|
Hyperkeratosis |
ORPHA:79280 |
