-
Gaucher disease. Kashin–Beck
disease Melnick–Needles
syndrome Ovine chondrodysplasia Familial osteodysplasia,
Anderson type The
diagnosis is
mainly based...
-
Rhizomelic chondrodysplasia punctata 215100, 222765, 600121 X-linked
recessive chondrodysplasia punctata 302950 Conradi–Hünermann
syndrome (
chondrodysplasia punctata...
-
Rhizomelic chondrodysplasia punctata is a rare
developmental brain disorder characterized by
abnormally short arms and legs (rhizomelia), seizures, recurrent...
- Conradi–Hünermann
syndrome is a rare type of
chondrodysplasia punctata. It is ****ociated with the EBP gene and
affects between one in 100,000 and one in...
- Jansen's
metaphyseal chondrodysplasia (JMC) is a
disease that
results from ligand-independent
activation of the type 1 (PTH1R) of the
parathyroid hormone...
- gene for
chondrodysplasia (a
semilethal gene),
which is a form of
dwarfism that
results in
shorter legs than
unaffected cattle.
Chondrodysplasia-affected...
-
receptor are
known to be the
cause of Jansen's
metaphyseal chondrodysplasia (JMC) and
chondrodysplasia Blomstrand type (BOCD) as well as
enchondromatosis and...
- Peroxin-7 is a
receptor ****ociated with Refsum's
disease and
rhizomelic chondrodysplasia punctata type 1.
Peroxin GeneReviews/NCBI/NIH/UW
entry on
Refsum Disease...
- X-linked
recessive chondrodysplasia punctata is a type of
chondrodysplasia punctata that can
involve the skin, hair, and
cause short stature with skeletal...
- Weissenbacher–Zweymuller
syndrome (WZS), also
called Pierre-Robin
syndrome with
fetal chondrodysplasia, is an
autosomal recessive congenital disorder,
linked to mutations...
