Medical Subject Headings

Last uploaded: November 5, 2019
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Preferred Name

Cerebrooculofacioskeletal Syndrome 1
Synonyms

Pena-Shokeir Syndrome, Type II
ID

http://purl.bioontology.org/ontology/MESH/C562434
altLabel

Pena-Shokeir Syndrome, Type II

Cofs Syndrome
cui

C0220722
HM

D003057
Inverse of RB

0
Mapped to

http://purl.bioontology.org/ontology/MESH/D003057
MDA

20121105
MeSH Frequency

4
notation

C562434
prefLabel

Cerebrooculofacioskeletal Syndrome 1
SC

3
TERMUI

T800690

T823575

T800688
TH

OMIM (2013)
tui

T019
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Delete Mapping To Ontology Source
http://purl.bioontology.org/ontology/OMIM/609413 Online Mendelian Inheritance in Man CUI
http://purl.bioontology.org/ontology/OMIM/214150 Online Mendelian Inheritance in Man CUI
http://purl.bioontology.org/ontology/OMIM/214150 Online Mendelian Inheritance in Man LOOM
http://purl.obolibrary.org/obo/DOID_0080911 Human Disease Ontology 123 LOOM