Disease association ontology term - MONDO:0017415 - multiple pterygium syndrome
Term summary
ID
MONDO:0017415
Name
multiple pterygium syndrome
Ontology or CV name
Disease association
Parents
is_a
arthrogryposis syndrome
Annotation
Disease association
MONDO:0008338
-
contractures, pterygia, and spondylocarpotarsal fusion syndrome 1A
References:
PB_REF:0000006
Genes:
myo2 (SPCC645.05c)
myp2 (SPAC4A8.05c)
MONDO:0020746
-
contractures, pterygia, and variable skeletal fusions syndrome 1B
References:
PB_REF:0000006
Genes:
myo2 (SPCC645.05c)
myp2 (SPAC4A8.05c)
