Mondo Disease Ontology / Mondo疾病本体 - Cohen syndrome - Classes

Preferred Name	Cohen syndrome
Synonyms	Chs1, formerly cutis verticis gyrata, retinitis pigmentosa, and sensorineural deafness Cohen syndrome Coh hypotonia, obesity, and prominent incisors COH1 pepper syndrome Chs1
Definitions	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.
ID	http://purl.obolibrary.org/obo/MONDO_0008999
closeMatch	http://identifiers.org/meddra/10049066
database_cross_reference	Orphanet:193 GARD:0006126 DOID:0111590 ICD9:759.89 OMIM:216550 UMLS:C1854061 SCTID:56604005 MESH:C536438 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://purl.obolibrary.org/obo/Orphanet_193 http://identifiers.org/snomedct/56604005 http://identifiers.org/mesh/C536438 http://linkedlifedata.com/resource/umls/id/C1854061 https://omim.org/entry/216550
has_exact_synonym	cutis verticis gyrata, retinitis pigmentosa, and sensorineural deafness Cohen syndrome
has_related_synonym	Chs1, formerly Coh hypotonia, obesity, and prominent incisors COH1 pepper syndrome Chs1
IAO_0000233	https://github.com/monarch-initiative/mondo/issues/5588
id	MONDO:0008999
in_subset	http://purl.obolibrary.org/obo/mondo#ordo_malformation_syndrome http://purl.obolibrary.org/obo/mondo#gard_rare http://purl.obolibrary.org/obo/mondo#clingen
label	Cohen syndrome
notation	MONDO:0008999
prefLabel	Cohen syndrome
seeAlso	https://rarediseases.info.nih.gov/diseases/6126/cohen-syndrome
treeView	http://purl.obolibrary.org/obo/MONDO_0015159 http://purl.obolibrary.org/obo/MONDO_0015134 http://purl.obolibrary.org/obo/MONDO_0000508 http://purl.obolibrary.org/obo/MONDO_0015327 http://purl.obolibrary.org/obo/MONDO_0016565 http://purl.obolibrary.org/obo/MONDO_0020240 http://purl.obolibrary.org/obo/MONDO_0002320
subClassOf	http://purl.obolibrary.org/obo/MONDO_0015159 http://purl.obolibrary.org/obo/MONDO_0015134 http://purl.obolibrary.org/obo/MONDO_0000508 http://purl.obolibrary.org/obo/MONDO_0015327 http://purl.obolibrary.org/obo/MONDO_0016565 http://purl.obolibrary.org/obo/MONDO_0020240 http://purl.obolibrary.org/obo/MONDO_0002320

Mapping To	Ontology	Source
http://purl.obolibrary.org/obo/DOID_0111590	Human Disease Ontology / 人类疾病本体	LOOM
http://www.orpha.net/ORDO/Orphanet_193	Orphanet Rare Disease Ontology / Orphanet罕见病本体	LOOM
http://purl.bioontology.org/ontology/MESH/C536438	Medical Subject Headings / 医学主题词表	LOOM
http://purl.bioontology.org/ontology/OMIM/216550	Online Mendelian Inheritance in Man / 在线人类孟德尔遗传数据库	LOOM
http://purl.obolibrary.org/obo/MONDO_0008999	Experimental Factor Ontology / 实验性因素本体	LOOM
http://purl.obolibrary.org/obo/MONDO_0008999	Experimental Factor Ontology / 实验性因素本体	SAME_URI