-
Gaucher disease. Kashin–Beck
disease Melnick–Needles
syndrome Ovine chondrodysplasia Familial osteodysplasia,
Anderson type The
diagnosis is
mainly based...
-
Rhizomelic chondrodysplasia punctata is a rare
developmental brain disorder characterized by
abnormally short arms and legs (rhizomelia), seizures, recurrent...
-
Rhizomelic chondrodysplasia punctata 215100, 222765, 600121 X-linked
recessive chondrodysplasia punctata 302950 Conradi–Hünermann
syndrome (
chondrodysplasia punctata...
- 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...
- 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...
- 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...
-
Chondrodysplasia Grebe type is a rare
genetic disorder. It is
caused by a
mutation to the GDF5 gene. This
mutation may be
inherited in an
autosomal recessive...
- X-linked
recessive chondrodysplasia punctata is a type of
chondrodysplasia punctata that can
involve the skin, hair, and
cause short stature with skeletal...
-
Metaphyseal chondrodysplasia Schmid type is a type of
chondrodysplasia ****ociated with a
deficiency of collagen, type X,
alpha 1.
Unlike other "rickets...
