rhizomelic chondrodysplasia punctata type 1
A condition that impairs the normal development of many parts of the body. The major features of this disorder include skeletal abnormalities, distinctive facial features, intellectual disability, and respiratory problems. The condition is caused by mutations in the PEX7 gene. It is inherited in an autosomal recessive pattern. Rhizomelic chondrodysplasia punctata type 1 is one of five types of rhizomelic chondrodysplasia punctata. The types have similar features and are distinguished by their genetic cause.
MONDO:0015776
rhizomelic chondrodysplasia punctata
is_a
MONDO:0015905
syndromic dyslipidemia
is_a
MONDO:0100272
peroxisome biogenesis disorder due to PEX7 defect
is_a
PBD9
exact
PEX7 rhizomelic chondrodysplasia punctata
exact
Pbd9
exact
RCDP1
exact
Rcdp1
exact
peroxisome biogenesis disorder 9
exact
rhizomelic chondrodysplasia punctata caused by mutation in PEX7
exact
rhizomelic chondrodysplasia punctata type 1
exact
rhizomelic chondrodysplasia punctata, type 1
exact
SPAC17D4.01