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otospondylomegaepiphyseal dysplasia

Go to external page 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 ]

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

This is just here as a test because I lose it

Term information

database cross reference
  • GARD:4130 (MONDO:GARD)
  • DOID:0080026 (MONDO:equivalentTo)
  • OMIMPS:184840 (MONDO:equivalentTo)
  • ICD9:759.89 (MONDO:relatedTo)
  • SCTID:254060000 (MONDO:equivalentTo)
  • MEDGEN:1617409 (MONDO:equivalentTo)
  • UMLS:C4520892 (MONDO:equivalentTo)
  • Orphanet:1427 (OMIM:215150)
Subsets

ordo_disorder, gard_rare, otar, rare, nord_rare, orphanet_rare, clingen

abbreviation
OSMED [ Orphanet:1427 MONDO:Lexical https://omim.org/entry/215150 ]

ClinGen label
otospondylomegaepiphyseal dysplasia [ https://omim.org/entry/215150 MONDO:Lexical ]

exactMatch

http://www.orpha.net/ORDO/Orphanet_1427

https://omim.org/phenotypicSeries/PS184840

http://identifiers.org/medgen/1617409

http://purl.obolibrary.org/obo/DOID_0080026

http://identifiers.org/snomedct/254060000

http://linkedlifedata.com/resource/umls/id/C4520892

excluded subClassOf

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

has related synonym

Insley-Astley syndrome

Nance Sweeney chondrodysplasia

oto-spondylo-mega-epiphyseal dysplasia

OSMED syndrome

id

MONDO:0008975

should conform to

http://purl.obolibrary.org/obo/mondo/patterns/OMIM_phenotypic_series.yaml