loading...| Preferred Name |
sirenomelia |
| Synonyms |
mermaid syndrome Fused legs and feet sirenomelia sequence mermaid malformation symmelia Sirenomelus |
| Definitions |
Sirenomelia is a rare, genetic, developmental defect during embryogenesis disorder characterized by fusion of the lower limbs and associated with some degree of lower extremity reduction and persistent vitelline artery. Patients also present severe malformations of the musculoskeletal system (e.g. sacral agenesis), as well as the urogenital and lower gastrointestinal tracts (e.g. renal agenesis, absent bladder, rectal/anal atresia, and absent internal genitalia). Most cases are stillborn, or die during, or shortly after, birth. |
| ID |
http://purl.obolibrary.org/obo/MONDO_0017850 |
| closeMatch | |
| database_cross_reference |
UMLS:C0037205 SCTID:67254002 GARD:0007652 NCIT:C118455 MedDRA:10049216 Orphanet:3169 |
| definition |
Sirenomelia is a rare, genetic, developmental defect during embryogenesis disorder characterized by fusion of the lower limbs and associated with some degree of lower extremity reduction and persistent vitelline artery. Patients also present severe malformations of the musculoskeletal system (e.g. sacral agenesis), as well as the urogenital and lower gastrointestinal tracts (e.g. renal agenesis, absent bladder, rectal/anal atresia, and absent internal genitalia). Most cases are stillborn, or die during, or shortly after, birth. |
| exactMatch |
http://purl.obolibrary.org/obo/NCIT_C118455 http://purl.obolibrary.org/obo/Orphanet_3169 |
| has_exact_synonym |
symmelia |
| has_related_synonym |
mermaid syndrome Fused legs and feet sirenomelia sequence mermaid malformation Sirenomelus |
| id |
MONDO:0017850 |
| in_subset |
http://purl.obolibrary.org/obo/mondo#ordo_malformation_syndrome |
| label |
sirenomelia |
| notation |
MONDO:0017850 |
| prefLabel |
sirenomelia |
| treeView | |
| subClassOf |