Disease association ontology term - MONDO:0019694 - spondylodysplastic dysplasia
Term summary
ID
MONDO:0019694
Name
spondylodysplastic dysplasia
Ontology or CV name
Disease association
Parents
is_a
skeletal dysplasia
Annotation
Disease association
MONDO:0008701
-
achondrogenesis type IA
References:
PB_REF:0000006
Genes:
rud3 (SPBC119.12)
MONDO:0010966
-
achondrogenesis type IB
References:
PB_REF:0000006
Genes:
sul1 (SPBC3H7.02)
sul2 (SPAC869.05c)
sul3 (SPCC320.05)
MONDO:0013223
-
autosomal recessive spondylometaphyseal dysplasia, Megarbane type
References:
PB_REF:0000006
Genes:
pam16 (SPBC713.10)
MONDO:0010013
-
schneckenbecken dysplasia
References:
PB_REF:0000006
Genes:
vrg4 (SPAC144.18)
MONDO:0009593
-
spondylometaphyseal dysplasia, Sedaghatian type
References:
PB_REF:0000006
Genes:
gpx1 (SPBC32F12.03c)
