Human Disease Ontology

Last uploaded: September 28, 2024
Preferred Name

cerebrooculofacioskeletal syndrome
Synonyms
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

MIM:PS214150

GARD:6027

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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