Cell Cycle Ontology

Last uploaded: June 26, 2014
Jump to:
Preferred Name

Chondrodysplasia punctata 2, X-linked dominant
Synonyms
Definitions

(CDPX2): A clinically and genetically heterogeneous disorder characterized by punctiform calcification of the bones. The key clinical features of CDPX2 are chondrodysplasia punctata, linear ichthyosis, cataracts and short stature. CDPX2 is a rare disorder of defective cholesterol biosynthesis, biochemically characterized by an increased amount of 8-dehydrocholesterol and cholest-8(9)- en-3-beta-ol in the plasma and tissues.
ID

http://purl.obolibrary.org/obo/OMIM_302960
definition

(CDPX2): A clinically and genetically heterogeneous disorder characterized by punctiform calcification of the bones. The key clinical features of CDPX2 are chondrodysplasia punctata, linear ichthyosis, cataracts and short stature. CDPX2 is a rare disorder of defective cholesterol biosynthesis, biochemically characterized by an increased amount of 8-dehydrocholesterol and cholest-8(9)- en-3-beta-ol in the plasma and tissues.
has_obo_namespace

cell_cycle_ontology
id

OMIM:302960
label

Chondrodysplasia punctata 2, X-linked dominant
notation

OMIM:302960
prefLabel

Chondrodysplasia punctata 2, X-linked dominant
treeView

http://purl.obolibrary.org/obo/OGMS_0000031
subClassOf

http://purl.obolibrary.org/obo/OGMS_0000031
Add comment
Add proposal
Delete Subject Author Type Created
No notes to display