loading...| Preferred Name |
sirenomelia |
|
| Synonyms |
symmelia mermaid syndrome sirenomelia sequence Sirenomelus Fused legs and feet mermaid malformation |
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| 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. |
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| ID |
http://purl.obolibrary.org/obo/MONDO_0017850 |
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| closeMatch | ||
| database_cross_reference |
icd11.foundation:473306797 UMLS:C0037205 SCTID:67254002 MedDRA:10049216 NORD:1720 NCIT:C118455 Orphanet:3169 GARD:7652 |
|
| 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. |
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| exactMatch |
http://purl.obolibrary.org/obo/Orphanet_3169 http://purl.obolibrary.org/obo/NCIT_C118455 |
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| has_exact_synonym |
symmelia |
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| has_related_synonym |
mermaid syndrome sirenomelia sequence Sirenomelus Fused legs and feet mermaid malformation |
|
| id |
MONDO:0017850 |
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| in_subset |
http://purl.obolibrary.org/obo/mondo#ordo_disease http://purl.obolibrary.org/obo/mondo#rare http://purl.obolibrary.org/obo/mondo#nord_rare http://purl.obolibrary.org/obo/mondo#orphanet_rare http://purl.obolibrary.org/obo/mondo#otar http://purl.obolibrary.org/obo/mondo#gard_rare http://purl.obolibrary.org/obo/mondo#ordo_malformation_syndrome |
|
| label |
sirenomelia |
|
| notation |
MONDO:0017850 |
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| prefLabel |
sirenomelia |
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| treeView | ||
| subClassOf |