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Cohen syndrome

^ http://purl.obolibrary.org/obo/MONDO_0008999

Cohen syndrome (CS) is a rare genetic developmental disorder characterized by microcephaly, characteristic facial features, hypotonia, non-progressive intellectual deficit, myopia and retinal dystrophy, neutropenia and truncal obesity. [ Orphanet:193 ]

Term info

database cross reference
  • SCTID:56604005 (MONDO:equivalentTo)
  • MedDRA:10049066 (Orphanet:193/e)
  • GARD:0006126 (MONDO:equivalentTo)
  • OMIM:216550 (Orphanet:193/e)
  • ICD9:759.89 (MONDO:relatedTo)
  • UMLS:C1854061 (MONDO:equivalentTo)
  • DOID:0111590 (MONDO:equivalentTo)
  • MESH:C536438 (Orphanet:193/e)
  • Orphanet:193 (OMIM:216550)
Subsets

gard_rare, ordo_malformation_syndrome, clingen

abbreviation
COH1 [ MONDO:Lexical OMIM:216550 ]

IAO 0000233

https://github.com/monarch-initiative/mondo/issues/5588

closeMatch

http://identifiers.org/meddra/10049066

definition

Cohen syndrome (CS) is a rare genetic developmental disorder characterized by microcephaly, characteristic facial features, hypotonia, non-progressive intellectual deficit, myopia and retinal dystrophy, neutropenia and truncal obesity.

exactMatch

http://purl.obolibrary.org/obo/DOID_0111590, http://identifiers.org/mesh/C536438, http://linkedlifedata.com/resource/umls/id/C1854061, https://omim.org/entry/216550, http://identifiers.org/snomedct/56604005, http://purl.obolibrary.org/obo/Orphanet_193

has exact synonym

cutis verticis gyrata, retinitis pigmentosa, and sensorineural deafness, Cohen syndrome

has related synonym

Chs1, pepper syndrome, COH1, hypotonia, obesity, and prominent incisors, Coh, Chs1, formerly

id

MONDO:0008999

seeAlso

https://rarediseases.info.nih.gov/diseases/6126/cohen-syndrome