Preferred Name |
caudal regression-sirenomelia spectrum |
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Synonyms |
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Definitions |
Caudal regression-sirenomelia spectrum is a group of rare genetic developmental defect during embryogenesis disorders characterized by varying degrees of caudal abdomen, pelvic, renal, anorectal, urogenital and/or lumbosacral spine malformations, with or without lower limb fusion. Phenotype is highly variable ranging from minor forms with isolated coccygeal agenesis to severe forms presenting with a single rudimentary limb. Central nervous system anomalies have also been reported. |
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ID |
http://purl.obolibrary.org/obo/MONDO_0018639 |
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definition |
Caudal regression-sirenomelia spectrum is a group of rare genetic developmental defect during embryogenesis disorders characterized by varying degrees of caudal abdomen, pelvic, renal, anorectal, urogenital and/or lumbosacral spine malformations, with or without lower limb fusion. Phenotype is highly variable ranging from minor forms with isolated coccygeal agenesis to severe forms presenting with a single rudimentary limb. Central nervous system anomalies have also been reported. |
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label |
caudal regression-sirenomelia spectrum |
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prefixIRI |
MONDO:0018639 |
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prefLabel |
caudal regression-sirenomelia spectrum |
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textual definition |
Caudal regression-sirenomelia spectrum is a group of rare genetic developmental defect during embryogenesis disorders characterized by varying degrees of caudal abdomen, pelvic, renal, anorectal, urogenital and/or lumbosacral spine malformations, with or without lower limb fusion. Phenotype is highly variable ranging from minor forms with isolated coccygeal agenesis to severe forms presenting with a single rudimentary limb. Central nervous system anomalies have also been reported. |
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subClassOf |
http://purl.obolibrary.org/obo/MONDO_0015620 |
Delete | Mapping To | Ontology | Source |
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http://purl.obolibrary.org/obo/MONDO_0018639 | MONDO | SAME_URI | |
http://purl.obolibrary.org/obo/MONDO_0018639 | EFO | SAME_URI | |
http://www.orpha.net/ORDO/Orphanet_444941 | ORDO | LOOM | |
http://purl.obolibrary.org/obo/MONDO_0018639 | EFO | LOOM | |
http://purl.obolibrary.org/obo/MONDO_0018639 | MONDO | LOOM | |
http://www.orpha.net/ORDO/Orphanet_444941 | ORDO | LOOM |