FNS-Harmony

Last uploaded: November 2, 2023
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

definition

A Cockayne syndrome that is characterized by very severe prenatal developmental anomalies including microcephaly, congenital cataracts, severe mental retardation, facial dysmorphism, and arthrogryposis.

imported from

http://purl.obolibrary.org/obo/doid.owl

label

cerebrooculofacioskeletal syndrome

prefixIRI

DOID:0080910

prefLabel

cerebrooculofacioskeletal syndrome

subClassOf

http://purl.obolibrary.org/obo/DOID_2962

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