loading...| Preferred Name |
Sirenomelia |
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| Synonyms |
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| Definitions |
A disorder characterized by the malformation of the legs into a single lower limb. |
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| ID |
http://purl.obolibrary.org/obo/NCIT_C118455 |
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| ALT_DEFINITION |
A disorder characterized by the malformation of the legs into a single lower limb. Any of several degrees of side-to-side fusion of lower extremities and concomitant midline reduction of the pelvis. Soft tissues and long bones, lower paw (feet), and viscera of the pelvis tend to be reduced or absent; anus and external genitalia are often absent. (Makris S, Solomon HM, Clark R, Shiota K, Barbellion S, Buschmann J, Ema M, Fujiwara M, Grote K, Hazelden KP, Hew KW, Horimoto M, Ooshima Y, Parkinson M, Wise LD. Terminology of developmental abnormalities in common laboratory mammals (Version 2). Part B. Birth Defects Res B Dev Reprod Toxicol. 2009 Aug;86(4):227-327.) |
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| code |
C118455 |
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| Contributing_Source |
CDISC MedDRA NICHD |
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| definition |
A disorder characterized by the malformation of the legs into a single lower limb. |
|
| in_subset |
http://purl.obolibrary.org/obo/NCIT_C77526 http://purl.obolibrary.org/obo/NCIT_C90259 http://purl.obolibrary.org/obo/NCIT_C124310 |
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| label |
Sirenomelia |
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| Maps_To |
Sirenomelia |
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| Preferred_Name |
Sirenomelia |
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| prefixIRI |
NCIT:C118455 |
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| prefLabel |
Sirenomelia |
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| Semantic_Type |
Congenital Abnormality |
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| UMLS_CUI |
C0037205 |
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| subClassOf |