JSON

Klippel-Feil anomaly-myopathy-facial dysmorphism syndrome

^ http://purl.obolibrary.org/obo/MONDO_0014689

Term info

database cross reference
  • UMLS:C4225285 (MONDO:ncbi_mim2gene_medline)
  • Orphanet:447974 (MONDO:equivalentTo)
  • DOID:0080592 (MONDO:equivalentTo)
  • OMIM:616549 (Orphanet:447974/e)
Subsets

ordo_malformation_syndrome

abbreviation
KFS4 [ MONDO:Lexical OMIM:616549 ]

IAO 0000233

https://github.com/monarch-initiative/mondo/issues/4948

exactMatch

https://omim.org/entry/616549, http://purl.obolibrary.org/obo/Orphanet_447974, http://purl.obolibrary.org/obo/DOID_0080592, http://linkedlifedata.com/resource/umls/id/C4225285

has exact synonym

Klippel-Feil anomaly-myopathy-facial dysmorphism syndrome

has related synonym

Klippel-Feil syndrome 4, autosomal recessive, with myopathy and facial dysmorphism, Klippel-Feil syndrome 4, autosomal recessive, with nemaline myopathy and facial dysmorphism, KFS4

id

MONDO:0014689