Otofacioosseous-Gonadal syndrome

Preferred Label : Otofacioosseous-Gonadal syndrome;

MeSH note : Syndrome includes short stature, inguinal hernia, brachycephaly, prominent forehead, flat face, downslanting palpebral fissures, low nasal root, hypoplastic alae and round tip to the nose, low-set prominent ears, narrow thorax, genu valgum, wormian bones, fusion of carpal bones, delayed bone age, and congenital clubfoot.;

Details

Origin ID

C566597;

UMLS CUI

C1865988;

Currated CISMeF NLP mapping
- Otofacioosseous-gonadal syndrome [OMIM Phenotype]
MeSH term(s) associated for indexing
- craniofacial abnormalities [MeSH Descriptor]
- cryptorchidism [MeSH Descriptor]
- hearing loss, sensorineural [MeSH Descriptor]
Record concept(s)
- Otofacioosseous-Gonadal syndrome [MeSH concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Otofacioosseous-gonadal syndrome [OMIM Phenotype]

Keyword's position in hierarchy(ies) :

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