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Carey-Fineman-Ziter syndrome 1

^ http://purl.obolibrary.org/obo/MONDO_0800437

A rare condition characterized by the association of hypotonia, Moebius sequence (bilateral congenital facial palsy with impairment of ocular abduction), Pierre-Robin sequence (micrognathia, glossoptosis, and high-arched or cleft palate), unusual face, and growth delay. [ Orphanet:1358 ]

Term info

database cross reference
  • DOID:0080194 (MONDO:equivalentTo)
  • UMLS:C1850746 (Orphanet:1358)
  • SCTID:429753001 (MONDO:equivalentTo)
  • GARD:0003889 (MONDO:equivalentTo)
  • OMIM:254940 (Orphanet:1358/e)
  • ICD9:359.89 (MONDO:relatedTo)
  • MESH:C536102 (MONDO:equivalentTo)
Subsets

gard_rare, ordo_malformation_syndrome

abbreviation
CFZS [ GARD:0003889 OMIM:254940 ]

abbreviation
CFZS1 [ OMIM:254940 ]

IAO 0000233

https://github.com/monarch-initiative/mondo/issues/6049, https://github.com/monarch-initiative/mondo/issues/5619

definition

A rare condition characterized by the association of hypotonia, Moebius sequence (bilateral congenital facial palsy with impairment of ocular abduction), Pierre-Robin sequence (micrognathia, glossoptosis, and high-arched or cleft palate), unusual face, and growth delay.

exactMatch

http://linkedlifedata.com/resource/umls/id/C1850746, http://purl.obolibrary.org/obo/DOID_0080194, http://identifiers.org/snomedct/429753001, https://omim.org/entry/254940, http://identifiers.org/mesh/C536102

excluded subClassOf

http://purl.obolibrary.org/obo/MONDO_0015335, http://purl.obolibrary.org/obo/MONDO_0015160

has exact synonym

myopathy, congenital nonprogressive, with Moebius sequence and Robin sequence, CFZS1, myopathy-Moebius-Robin syndrome, Carey-Fineman-Ziter syndrome 1

has related synonym

CFZS, congenital nonprogressive myopathy with Moebius and Robin sequences, Carey Fineman Ziter syndrome, myopathy, congenital nonprogressive with Moebius and Robin sequences, Moebius sequence, Robin complex, and hypotonia

id

MONDO:0800437

seeAlso

https://rarediseases.info.nih.gov/diseases/3889/carey-fineman-ziter-syndrome

Term relations