X-linked chondrodysplasia punctata 2
A rare genodermatosis with great phenotypic variation and characterized most commonly by ichthyosis, chondrodysplasia punctata (CDP), asymmetric shortening of the limbs, cataracts and short stature.
MONDO:0017269
X-linked ichthyosis syndrome
excluded_subClassOf
MONDO:0010556
X-linked chondrodysplasia punctata
is_a
MONDO:0100118
hereditary skin disorder
is_a
CDPX2
exact
CDPXD
exact
Conrad Hunermann Happle syndrome
exact
Conradi Hunermann syndrome
exact
Conradi Hünermann Syndrome
exact
Conradi-Hunermann syndrome
exact
Conradi-Hunermann-Happle syndrome
exact
Conradi-Hünermann-Happle syndrome
exact
EBP chondrodysplasia punctata
exact
Happle syndrome
exact
X-linked chondrodysplasia punctata type 2
exact
chondrodysplasia punctata 2 X-linked dominant
exact
chondrodysplasia punctata 2, X-linked dominant
exact
chondrodysplasia punctata caused by mutation in EBP
exact
chondrodysplasia punctata, X-linked dominant, X-linked dominant
exact