Disease association ontology term - MONDO:0015802 - autosomal dominant non-syndromic intellectual disability
Term summary
ID
MONDO:0015802
Name
autosomal dominant non-syndromic intellectual disability
Ontology or CV name
Disease association
Definition
Autosomal dominant form of non-syndromic intellectual disability.
Parents
is_a
non-syndromic intellectual disability
is_a
intellectual disability, autosomal dominant
Annotation
Disease association
MONDO:0030914
-
Clark-Baraitser syndrome
References:
PB_REF:0000006
Genes:
hul6 (SPAC12B10.01c)
MONDO:0032823
-
intellectual developmental disorder 60 with seizures
References:
PB_REF:0000006
Genes:
apm4 (SPAC31A2.09c)
MONDO:0032485
-
intellectual developmental disorder 61
References:
PB_REF:0000006
Genes:
med13 (SPAC589.02c)
MONDO:0957536
-
intellectual developmental disorder, autosomal dominant 73
References:
PB_REF:0000006
Genes:
taf4 (SPAC23G3.09)
MONDO:0014580
-
intellectual disability, autosomal dominant 33
References:
PB_REF:0000006
Genes:
dpp2 (SPACUNK4.08)
MONDO:0014842
-
intellectual disability, autosomal dominant 41
References:
PB_REF:0000006
Genes:
hif2 (SPCC1235.09)
MONDO:0030912
-
intellectual disability, autosomal dominant 47
References:
PB_REF:0000006
Genes:
psc3 (SPAC17H9.20)
rec11 (SPCC4E9.01c)
MONDO:0030916
-
intellectual disability, autosomal dominant 50
References:
PB_REF:0000006
Genes:
naa15 (SPCC338.07c)
nat1 (SPBC418.02)
MONDO:0030917
-
intellectual disability, autosomal dominant 51
References:
PB_REF:0000006
Genes:
set9 (SPCC4B3.12)
MONDO:0030921
-
intellectual disability, autosomal dominant 55, with seizures
References:
PB_REF:0000006
Genes:
nus1 (SPBC2A9.06c)
MONDO:0030922
-
intellectual disability, autosomal dominant 56
References:
PB_REF:0000006
Genes:
chc1 (SPAC26A3.05)
MONDO:0020847
-
intellectual disability, autosomal dominant 58
References:
PB_REF:0000006
Genes:
ccp1 (SPBC36B7.08c)
MONDO:0013266
-
neurodevelopmental disorder with hypotonia, stereotypic hand movements, and impaired language
References:
PB_REF:0000006
Genes:
map1 (SPAC11E3.06)
mbx1 (SPBC19G7.06)