Cell Culture Ontology

Last uploaded: July 23, 2014
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Preferred Name

COFS syndrome
Synonyms

Cerebro Oculo Facio Skeletal Syndrome

Pena-Shokeir syndrome type 2

cerebro-oculo-facio-skeletal syndrome

cerebrooculofacioskeletal syndrome

COFS
Definitions

Cerebrooculofacioskeletal (COFS) syndrome is a rare genetic disorder, belonging to a family of diseases of DNA repair, characterized by a severe sensorineural involvement.
ID

http://purl.obolibrary.org/obo/MONDO_0008926
database_cross_reference

MEDGEN:1762238

DOID:0080910

UMLS:C5399761

OMIMPS:214150

Orphanet:1466

GARD:6027

NCIT:C3817

NORD:913
definition

Cerebrooculofacioskeletal (COFS) syndrome is a rare genetic disorder, belonging to a family of diseases of DNA repair, characterized by a severe sensorineural involvement.
has_exact_synonym

Cerebro Oculo Facio Skeletal Syndrome

Pena-Shokeir syndrome type 2

cerebro-oculo-facio-skeletal syndrome

cerebrooculofacioskeletal syndrome

COFS
id

MONDO:0008926
in_subset

http://purl.obolibrary.org/obo/mondo/mondo-base#rare

http://purl.obolibrary.org/obo/mondo/mondo-base#otar

http://purl.obolibrary.org/obo/mondo/mondo-base#ordo_subtype_of_a_disorder

http://purl.obolibrary.org/obo/mondo/mondo-base#gard_rare

http://purl.obolibrary.org/obo/mondo/mondo-base#nord_rare

http://purl.obolibrary.org/obo/mondo/mondo-base#prototype_pattern
label

COFS syndrome
notation

MONDO:0008926
preferred label

COFS syndrome
prefLabel

COFS syndrome
skos_exactMatch

http://linkedlifedata.com/resource/umls/id/C5399761

http://purl.obolibrary.org/obo/Orphanet_1466

http://purl.obolibrary.org/obo/DOID_0080910

https://omim.org/phenotypicSeries/PS214150

http://identifiers.org/medgen/1762238

http://purl.obolibrary.org/obo/NCIT_C3817
subClassOf

http://purl.obolibrary.org/obo/MONDO_0016073

http://www.ebi.ac.uk/efo/EFO_0008499

http://www.ebi.ac.uk/efo/EFO_1000017
excluded_subClassOf

http://purl.obolibrary.org/obo/MONDO_0016006
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