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
is_a
hereditary disease
Annotation
Disease association
MONDO:0007617
-
Coffin-Siris syndrome 1
References:
PB_REF:0000006
Genes:
sol1 (SPBC30B4.04c)
MONDO:0014838
-
Coffin-Siris syndrome 5
References:
PB_REF:0000006
Genes:
ssr4 (SPBP23A10.05)
MONDO:0032702
-
Coffin-Siris syndrome 8
References:
PB_REF:0000006
Genes:
ssr1 (SPAC17G6.10)
ssr2 (SPAC23H3.10)
MONDO:0032770
-
intellectual developmental disorder with severe speech and ambulation defects
References:
PB_REF:0000006
Genes:
alp5 (SPBP23A10.08)
arp42 (SPAC23D3.09)
arp9 (SPAC1071.06)
MONDO:0013819
-
intellectual disability, autosomal dominant 14
References:
PB_REF:0000006
Genes:
sol1 (SPBC30B4.04c)
MONDO:0013820
-
intellectual disability, autosomal dominant 15
References:
PB_REF:0000006
Genes:
sfh1 (SPCC16A11.14)
snf5 (SPAC2F7.08c)
MONDO:0013821
-
intellectual disability, autosomal dominant 16
References:
PB_REF:0000006
Genes:
snf21 (SPAC1250.01)
snf22 (SPCC1620.14c)
MONDO:0011053
-
intellectual disability-sparse hair-brachydactyly syndrome
References:
PB_REF:0000006
Genes:
snf21 (SPAC1250.01)
snf22 (SPCC1620.14c)