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Disease association ontology term - MONDO:0008926 - COFS syndrome

Term summary

ID
MONDO:0008926
Name
COFS syndrome
Ontology or CV name
Disease association
Definition
Cerebrooculofacioskeletal (COFS) syndrome is a rare genetic disorder, belonging to a family of diseases of DNA repair, characterized by a severe sensorineural involvement.

Parents

Annotation

Disease association

MONDO:0008955 - cerebrooculofacioskeletal syndrome 1

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Genes:

MONDO:0012553 - cerebrooculofacioskeletal syndrome 2

References:

Genes:

MONDO:0014696 - cerebrooculofacioskeletal syndrome 3

References:

Genes:

MONDO:0012554 - cerebrooculofacioskeletal syndrome 4

References:

Genes:

MONDO:0010216 - xeroderma pigmentosum group G

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Genes: