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