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Last uploaded:
December 4, 2018
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| Preferred Name | Chondrodysplasia punctata 2, X-linked dominant | |
| Synonyms |
CDPX2 |
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| 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. |
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| ID |
http://identifiers.org/omim/302960 |
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| altLabel |
CDPX2
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| 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.
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| id |
OMIM:302960
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| notation |
OMIM:302960
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| prefLabel |
Chondrodysplasia punctata 2, X-linked dominant
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| subClassOf |
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| Mapping To | Ontology | Source |
|---|---|---|
| http://identifiers.org/omim/302960 | REXO | SAME_URI |
| http://identifiers.org/omim/302960 | GEXO | SAME_URI |
| http://phenomebrowser.net/ontologies/mesh/mesh.owl#C538416 | RH-MESH | LOOM |
| http://purl.obolibrary.org/obo/OMIM_302960 | CCO | LOOM |
| http://identifiers.org/omim/302960 | REXO | LOOM |
| http://identifiers.org/omim/302960 | GEXO | LOOM |
| http://purl.bioontology.org/ontology/OMIM/302960 | OMIM | LOOM |