Disease Browser
|
Parent Node: Abnormalities, Multiple (D000015) | Parent Node: Hypospadias (D007021) | Parent Node: Polydactyly (D017689) | ..Starting node ..Preaxial deficiency, postaxial polydactyly and hypospadias (C538278)
| Child Nodes:
|
Sister Nodes: | ..Absence of tibia with polydactyly (C535564)
| ..Biemond Syndrome II (C565902)
| ..Biemond syndrome type 2 (C535439)
| ..Brachyphalangy, polydactyly, and tibial aplasia/hypoplasia (C537100)
| ..Cortical Blindness, Retardation, and Postaxial Polydactyly (C565674)
| ..Crossed Polydactyly, Type I (C566783)
| ..Dandy Walker malformation postaxial polydactyly (C535771)
| ..Desbuquois syndrome (C535943)
| ..Ectodermal dysplasia alopecia preaxial polydactyly (C538016)
| ..Ectodermal Dysplasia Syndrome with Distinctive Facial Appearance and Preaxial Polydactyly of Feet (C565067)
| ..Garret Tripp syndrome (C535646)
| ..Hirschsprung disease polydactyly heart disease (C538120)
| ..Hirschsprung Disease with Heart Defects, Laryngeal Anomalies, and Preaxial Polydactyly (C565817)
| ..Hirschsprung Disease with Polydactyly, Renal Agenesis, and Deafness (C565518)
| ..Hirschsprung Disease with Ulnar Polydactyly, Polysyndactyly of Big Toes, and Ventricular Septal Defect (C565517)
| ..Holoprosencephaly 9 (C563659)
| ..Hydrolethalus Syndrome 1 (C565504)
| ..Kozlowski-Krajewska syndrome (C537615)
| ..Laurence Prosser Rocker syndrome (C537882)
| ..Liver Fibrocystic Disease and Polydactyly (C565272)
| ..Maroteaux Fonfria syndrome (C536023)
| ..McKusick Kaufman syndrome (C538159)
| ..Meckel Syndrome, Type 4 (C567003)
| ..Meckel-Like Cerebrorenodigital Syndrome (C567004)
| ..Megalanecephaly Polymicrogyria-Polydactyly Hydrocephalus Syndrome (C566381)
| ..Mexican Cardiomelic Dysplasia (C563087)
| ..Oliver Syndrome (C564931)
| ..Pallister-Hall Syndrome (D054975)
| ..Pfeiffer Mayer syndrome (C537888)
| ..Polydactyly myopia syndrome (C536331)
| ..Polydactyly preaxial type 1 (C536332)
| ..Polydactyly, Postaxial (C562429)
| ..Polydactyly, Postaxial, Type A2 (C566585)
| ..Polydactyly, Postaxial, Type A3 (C564590)
| ..Polydactyly, Postaxial, Type A4 (C563909)
| ..Polydactyly, Postaxial, with Dental and Vertebral Anomalies (C564880)
| ..Polydactyly, preaxial 4 (C536333)
| ..POLYDACTYLY, PREAXIAL II (OMIM:174500)
| ..Polydactyly, Preaxial III (C566784)
| ..Polysyndactyly, Crossed (C566773)
| ..Preaxial deficiency, postaxial polydactyly and hypospadias (C538278)
| ..Preaxial Hallucal Polydactyly (C566632)
| ..Pseudotrisomy 13 syndrome (C535829)
| ..Santos Mateus Leal syndrome (C537235)
| ..Santos Syndrome (C567819)
| ..Scalp defects postaxial polydactyly (C536622)
| ..Short Rib-Polydactyly Syndrome (D012779) 3
| ..SHORT-RIB THORACIC DYSPLASIA 3 WITH OR WITHOUT POLYDACTYLY (OMIM:613091)
| ..Syndactyly, Type IV (C566092)
| ..Syndactyly-Polydactyly-Earlobe Syndrome (C566091)
| ..Synpolydactyly 2 (C564278)
| ..Synpolydactyly 3 (C565216)
| ..Synpolydactyly With Foot Anomalies (C566095)
| ..Thai Symphalangism Syndrome (C564303)
| ..Tibia absent polydactyly arachnoid cyst (C536918)
| ..Tibia, Absence or Hypoplasia of, with Polydactyly, Retrocerebellar Arachnoid Cyst, and Other Anomalies (C563403)
| ..Tibia, Hypoplasia of, with Polydactyly (C566046)
| ..Ulnar Ray Dysgenesis with Postaxial Polydactyly and Renal Cystic Dysplasia (C565783)
| ..Urioste Martinez-Frias syndrome (C536478)
|
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM, CTD
|
|
|
Term ID: | 9205 |
Name: | Preaxial deficiency, postaxial polydactyly and hypospadias |
Definition: | |
Alternative IDs: | OMIM:176305 |
ParentIDs: | MESH:D000015|MESH:D007021|MESH:D017689 |
TreeNumbers: | C05.660.585.600/C538278 |C12.294.494.400/C538278 |C12.706.516/C538278 |C13.351.875.466/C538278 |C16.131.077/C538278 |C16.131.621.585.600/C538278 |C16.131.939.516/C538278 |
Synonyms: | Autosomal dominant preaxial deficiency, postaxial polydactyly, and hypospadias |Guttmacher syndrome |Preaxial Deficiency, Postaxial Polydactyly, And Hypospadias |
Slim Mappings: | Congenital abnormality|Musculoskeletal disease|Urogenital disease (female)|Urogenital disease (male) |
Reference: |
MedGen: C538278
MeSH: C538278
OMIM: 176305;
Genes: HOXA13; | Phenotypes | | Disease Causing ClinVar Variants | |
|