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Klippel-Feil syndrome 2, autosomal recessive

^ http://purl.obolibrary.org/obo/MONDO_0008958

Any isolated Klippel-Feil syndrome in which the cause of the disease is a mutation in the MEOX1 gene. [ MONDO:patterns/disease_series_by_gene ]

Term info

database cross reference
  • OMIM:214300 (MONDO:equivalentTo)
  • MESH:C536888 (MONDO:equivalentTo)
  • DOID:0080590 (MONDO:equivalentTo)
  • UMLS:C1859209 (OMIM:214300)
abbreviation
KFS2 [ MONDO:Lexical OMIM:214300 ]

IAO 0000233

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

definition

Any isolated Klippel-Feil syndrome in which the cause of the disease is a mutation in the MEOX1 gene.

exactMatch

http://identifiers.org/mesh/C536888, http://linkedlifedata.com/resource/umls/id/C1859209, http://purl.obolibrary.org/obo/DOID_0080590, https://omim.org/entry/214300

has exact synonym

Klippel-Feil syndrome 2, autosomal recessive, MEOX1 isolated Klippel-Feil syndrome, isolated Klippel-Feil syndrome caused by mutation in MEOX1

has related synonym

Klippel-FEIL syndrome 2, autosomal recessive, KFS2, cervical vertebral fusion, autosomal recessive, Kfs, autosomal recessive

id

MONDO:0008958