X-linked chondrodysplasia punctata 1
Brachytelephalangic chondrodysplasia punctata (BCDP) is a form of nonrhizomelic chondrodysplasia punctata, a primary bone dysplasia, characterized by hypoplasia of the distal phalanges of the fingers, nasal hypoplasia, epiphyseal stippling appearing in the first year of life, and mild and nonrhizomelic shortness of the long bones.
MONDO:0010556
X-linked chondrodysplasia punctata
is_a
ARSE X-linked chondrodysplasia punctata
exact
CDPX1
related
CPXR
related
X-linked chondrodysplasia punctata 1
exact
X-linked chondrodysplasia punctata caused by mutation in ARSE
exact
X-linked chondrodysplasia punctata caused by mutation in arse
exact
arse X-linked chondrodysplasia punctata
exact
arylsulfatase E deficiency
related
brachytelephalangic chondrodysplasia punctata
exact
chondrodysplasia punctata 1 X-linked recessive
related
chondrodysplasia punctata 1, X-linked recessive
related
chondrodysplasia punctata brachytelephalangic
related
chondrodysplasia punctata, X-linked recessive, X-linked recessive
exact
chondrodysplasia punctata, brachytelephalangic
related