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Preferred Name

COHEN SYNDROME
Synonyms

COH1
ID

http://purl.bioontology.org/ontology/OMIM/216550
altLabel

COH1

HYPOTONIA, OBESITY, AND PROMINENT INCISORS

PEPPER SYNDROME

COH

CHS1, FORMERLY
cui

C0265223
Gene Locus

8q22-q23
Gene Symbol

COH1

KIAA0532

VPS13B
Has manifestation

http://purl.bioontology.org/ontology/OMIM/MTHU011094

http://purl.bioontology.org/ontology/OMIM/MTHU036360

http://purl.bioontology.org/ontology/OMIM/MTHU001747

http://purl.bioontology.org/ontology/OMIM/MTHU065273

http://purl.bioontology.org/ontology/OMIM/MTHU000565

http://purl.bioontology.org/ontology/OMIM/MTHU013763

http://purl.bioontology.org/ontology/OMIM/MTHU001686

http://purl.bioontology.org/ontology/OMIM/MTHU013761

http://purl.bioontology.org/ontology/OMIM/MTHU013755

http://purl.bioontology.org/ontology/OMIM/MTHU000579

http://purl.bioontology.org/ontology/OMIM/MTHU037152

http://purl.bioontology.org/ontology/OMIM/MTHU002108

http://purl.bioontology.org/ontology/OMIM/MTHU000269

http://purl.bioontology.org/ontology/OMIM/MTHU036841

http://purl.bioontology.org/ontology/OMIM/MTHU008212

http://purl.bioontology.org/ontology/OMIM/MTHU065274

http://purl.bioontology.org/ontology/OMIM/MTHU036721

http://purl.bioontology.org/ontology/OMIM/MTHU065272

http://purl.bioontology.org/ontology/OMIM/MTHU013759

http://purl.bioontology.org/ontology/OMIM/MTHU004162

http://purl.bioontology.org/ontology/OMIM/MTHU000133

http://purl.bioontology.org/ontology/OMIM/MTHU058317

http://purl.bioontology.org/ontology/OMIM/MTHU005299

http://purl.bioontology.org/ontology/OMIM/MTHU015996

http://purl.bioontology.org/ontology/OMIM/MTHU001468

http://purl.bioontology.org/ontology/OMIM/MTHU000145

http://purl.bioontology.org/ontology/OMIM/MTHU013752

http://purl.bioontology.org/ontology/OMIM/MTHU013756

http://purl.bioontology.org/ontology/OMIM/MTHU004822

http://purl.bioontology.org/ontology/OMIM/MTHU000242

http://purl.bioontology.org/ontology/OMIM/MTHU002113

http://purl.bioontology.org/ontology/OMIM/MTHU036911

http://purl.bioontology.org/ontology/OMIM/MTHU001845

http://purl.bioontology.org/ontology/OMIM/MTHU036340

http://purl.bioontology.org/ontology/OMIM/MTHU003954

http://purl.bioontology.org/ontology/OMIM/MTHU036427

http://purl.bioontology.org/ontology/OMIM/MTHU036356

http://purl.bioontology.org/ontology/OMIM/MTHU000197

http://purl.bioontology.org/ontology/OMIM/MTHU036368
MIMTYPEMEANING

Phenotype description, molecular basis known.
Moved from

605685
notation

216550
OMIM Entry Type

3
OMIM MimType Value

pound
prefLabel

COHEN SYNDROME
Scope Statement

Increased frequency in Ashkenazi Jewish population and in Finland [MISCELLANEOUS]

Caused by mutation in the homolog of the yeast vacuolar protein sorting 13 gene (VPS13B, 607817.0001) [MOLECULAR BASIS]

Cheerful disposition [MISCELLANEOUS]
tui

T019
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Delete 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 CUI
http://purl.bioontology.org/ontology/MESH/C536438 Medical Subject Headings / 医学主题词表 LOOM
http://purl.obolibrary.org/obo/MONDO_0008999 Mondo Disease Ontology / Mondo疾病本体 LOOM
http://purl.obolibrary.org/obo/MONDO_0008999 Experimental Factor Ontology / 实验性因素本体 LOOM