Disease association ontology term - MONDO:0019713 - non-syndromic limb reduction defect
Term summary
ID
MONDO:0019713
Name
non-syndromic limb reduction defect
Ontology or CV name
Disease association
Parents
is_a
skeletal dysplasia
Annotation
Disease association
MONDO:0013895
-
Adams-Oliver syndrome 3
References:
PB_REF:0000006
Genes:
cbf11 (SPCC736.08)
cbf12 (SPCC1223.13)
MONDO:0007387
-
Cornelia de Lange syndrome 1
References:
PB_REF:0000006
Genes:
mis4 (SPAC31A2.05c)
MONDO:0010370
-
Cornelia de Lange syndrome 2
References:
PB_REF:0000006
Genes:
psm1 (SPBC29A10.04)
MONDO:0012555
-
Cornelia de Lange syndrome 3
References:
PB_REF:0000006
Genes:
psm3 (SPAC10F6.09c)
MONDO:0013864
-
Cornelia de Lange syndrome 4
References:
PB_REF:0000006
Genes:
rad21 (SPCC338.17c)
MONDO:0009955
-
rapadilino syndrome
References:
PB_REF:0000006
Genes:
drc1 (SPAC6B12.11)
hrq1 (SPAC23A1.19c)
MONDO:0010121
-
thrombocytopenia-absent radius syndrome
References:
PB_REF:0000006
Genes:
rbm8 (SPAC23A1.09)
