Human Disease Ontology 123

Last uploaded: September 28, 2023

Preferred Name	cerebrooculofacioskeletal syndrome
Definitions	A Cockayne syndrome that is characterized by very severe prenatal developmental anomalies including microcephaly, congenital cataracts, severe mental retardation, facial dysmorphism, and arthrogryposis.
ID	http://purl.obolibrary.org/obo/DOID_0080910
database_cross_reference	GARD:6027 OMIM:PS214150
definition	A Cockayne syndrome that is characterized by very severe prenatal developmental anomalies including microcephaly, congenital cataracts, severe mental retardation, facial dysmorphism, and arthrogryposis.
has_obo_namespace	disease_ontology
id	DOID:0080910
in_subset	http://purl.obolibrary.org/obo/doid#DO_rare_slim
label	cerebrooculofacioskeletal syndrome
notation	DOID:0080910
prefLabel	cerebrooculofacioskeletal syndrome
subClassOf	http://purl.obolibrary.org/obo/DOID_2962

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Delete	Mapping To	Ontology	Source
	http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C3817	National Cancer Institute Thesaurus	LOOM