Disease association ontology term - MONDO:0010590 - FG syndrome 1
Term summary
ID
MONDO:0010590
Name
FG syndrome 1
Ontology or CV name
Disease association
Definition
Any FG syndrome in which the cause of the disease is a mutation in the MED12 gene.
Parents
excluded_subClassOf
multiple congenital anomalies/dysmorphic syndrome-intellectual disability
excluded_subClassOf
obsolete syndromic anorectal malformation (obsolete MONDO:0015246)
is_a
FG syndrome
is_a
MED12-related intellectual disability syndrome
Annotation
Disease association
MONDO:0010590
-
FG syndrome 1
References:
PB_REF:0000006
Genes:
srb8 (SPAC688.08)