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Disease association ontology term - MONDO:0700120 - BAFopathy

Term summary

ID
MONDO:0700120
Name
BAFopathy
Ontology or CV name
Disease association
Definition
Disorder caused by mutations in the various subunits composing the BAF complex.

Parents

Annotation

Disease association

MONDO:0007617 - Coffin-Siris syndrome 1

References:

Genes:

MONDO:0014838 - Coffin-Siris syndrome 5

References:

Genes:

MONDO:0032702 - Coffin-Siris syndrome 8

References:

Genes:

MONDO:0032770 - intellectual developmental disorder with severe speech and ambulation defects

References:

Genes:

MONDO:0013819 - intellectual disability, autosomal dominant 14

References:

Genes:

MONDO:0013820 - intellectual disability, autosomal dominant 15

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Genes:

MONDO:0013821 - intellectual disability, autosomal dominant 16

References:

Genes:

MONDO:0011053 - intellectual disability-sparse hair-brachydactyly syndrome

References:

Genes: