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otospondylomegaepiphyseal dysplasia

^ http://purl.obolibrary.org/obo/MONDO_0008975

An inborn error of cartilage collagen formation characterized by sensorineural hearing loss, enlarged epiphyses, skeletal dysplasia with disproportionately short limbs, vertebral body anomalies and a characteristic facies. [ Orphanet:1427 ]

Term info

database cross reference
  • GARD:0004130 (MONDO:equivalentTo)
  • Orphanet:1427 (OMIM:215150)
  • DOID:0080026 (MONDO:equivalentTo)
  • SCTID:254060000 (MONDO:equivalentTo)
  • ICD9:759.89 (MONDO:relatedTo)
  • OMIMPS:184840 (MONDO:equivalentTo)
Subsets

ordo_disease

abbreviation
OSMED [ Orphanet:1427 OMIM:215150 MONDO:Lexical ]

definition

An inborn error of cartilage collagen formation characterized by sensorineural hearing loss, enlarged epiphyses, skeletal dysplasia with disproportionately short limbs, vertebral body anomalies and a characteristic facies.

exactMatch

https://omim.org/phenotypicSeries/PS184840, http://purl.obolibrary.org/obo/Orphanet_1427, http://purl.obolibrary.org/obo/DOID_0080026, http://identifiers.org/snomedct/254060000

excluded subClassOf

http://purl.obolibrary.org/obo/MONDO_0019686

has exact synonym

OSMED, Nance-Sweeney chondrodysplasia, Nance-Insley syndrome, chondrodystrophy with sensorineural deafness, otospondylmegaepiphyseal dysplasia, otospondylomegaepiphyseal dysplasia

has related synonym

Insley-Astley syndrome, Nance Sweeney chondrodysplasia, oto-spondylo-mega-epiphyseal dysplasia, OSMED syndrome

id

MONDO:0008975

Term relations