Online Mendelian Inheritance in Man

Last uploaded: January 29, 2019
Preferred Name

CEREBROOCULOFACIOSKELETAL SYNDROME 1

Synonyms

COFS

ID

http://purl.bioontology.org/ontology/OMIM/214150

altLabel

COFS

PENA-SHOKEIR SYNDROME, TYPE II

COFS SYNDROME

COFS1

cui

C0220722

Gene Locus

10q11

Gene Symbol

POF11

UVSS1

ARMD5

ERCC6

CKN2

COFS1

CSB

Has manifestation

http://purl.bioontology.org/ontology/OMIM/MTHU033304

http://purl.bioontology.org/ontology/OMIM/MTHU013956

http://purl.bioontology.org/ontology/OMIM/MTHU004110

http://purl.bioontology.org/ontology/OMIM/MTHU027801

http://purl.bioontology.org/ontology/OMIM/MTHU002677

http://purl.bioontology.org/ontology/OMIM/MTHU000235

http://purl.bioontology.org/ontology/OMIM/MTHU005748

http://purl.bioontology.org/ontology/OMIM/MTHU000575

http://purl.bioontology.org/ontology/OMIM/MTHU002160

http://purl.bioontology.org/ontology/OMIM/MTHU001056

http://purl.bioontology.org/ontology/OMIM/MTHU001361

http://purl.bioontology.org/ontology/OMIM/MTHU000081

http://purl.bioontology.org/ontology/OMIM/MTHU037326

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

http://purl.bioontology.org/ontology/OMIM/MTHU013949

http://purl.bioontology.org/ontology/OMIM/MTHU000090

http://purl.bioontology.org/ontology/OMIM/MTHU013955

http://purl.bioontology.org/ontology/OMIM/MTHU013953

http://purl.bioontology.org/ontology/OMIM/MTHU013957

http://purl.bioontology.org/ontology/OMIM/MTHU013951

http://purl.bioontology.org/ontology/OMIM/MTHU036571

http://purl.bioontology.org/ontology/OMIM/MTHU036369

http://purl.bioontology.org/ontology/OMIM/MTHU036361

http://purl.bioontology.org/ontology/OMIM/MTHU021233

http://purl.bioontology.org/ontology/OMIM/MTHU002380

http://purl.bioontology.org/ontology/OMIM/MTHU003211

http://purl.bioontology.org/ontology/OMIM/MTHU005747

http://purl.bioontology.org/ontology/OMIM/MTHU000564

http://purl.bioontology.org/ontology/OMIM/MTHU000155

http://purl.bioontology.org/ontology/OMIM/MTHU000576

http://purl.bioontology.org/ontology/OMIM/MTHU002115

http://purl.bioontology.org/ontology/OMIM/MTHU037327

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

http://purl.bioontology.org/ontology/OMIM/MTHU000189

http://purl.bioontology.org/ontology/OMIM/MTHU004589

http://purl.bioontology.org/ontology/OMIM/MTHU013952

http://purl.bioontology.org/ontology/OMIM/MTHU013958

http://purl.bioontology.org/ontology/OMIM/MTHU013950

http://purl.bioontology.org/ontology/OMIM/MTHU037325

http://purl.bioontology.org/ontology/OMIM/MTHU036342

http://purl.bioontology.org/ontology/OMIM/MTHU013948

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

http://purl.bioontology.org/ontology/OMIM/MTHU003041

http://purl.bioontology.org/ontology/OMIM/MTHU010339

http://purl.bioontology.org/ontology/OMIM/MTHU013954

MIMTYPEMEANING

Phenotype description, molecular basis known.

notation

214150

OMIM Entry Type

3

OMIM MimType Value

pound

prefLabel

CEREBROOCULOFACIOSKELETAL SYNDROME 1

tui

T019

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Delete Mapping To Ontology Source
http://purl.bioontology.org/ontology/MESH/C562434 Medical Subject Headings CUI
http://purl.bioontology.org/ontology/MESH/C562434 Medical Subject Headings LOOM
http://purl.obolibrary.org/obo/DOID_0080911 Human Disease Ontology 123 LOOM