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loading...| Preferred Name |
CORNEA PLANA 2, AUTOSOMAL RECESSIVE |
| Synonyms |
CNA2 |
| ID |
http://purl.bioontology.org/ontology/OMIM/217300 |
| altLabel |
CNA2 |
| cui |
C1857574 |
| Gene Locus |
12q22 |
| Gene Symbol |
CNA2 KERA |
| Has manifestation |
http://purl.bioontology.org/ontology/OMIM/MTHU053619 http://purl.bioontology.org/ontology/OMIM/MTHU053617 http://purl.bioontology.org/ontology/OMIM/MTHU053615 http://purl.bioontology.org/ontology/OMIM/MTHU053624 http://purl.bioontology.org/ontology/OMIM/MTHU053620 http://purl.bioontology.org/ontology/OMIM/MTHU053622 http://purl.bioontology.org/ontology/OMIM/MTHU053618 http://purl.bioontology.org/ontology/OMIM/MTHU053616 |
| MIMTYPEMEANING |
Phenotype description, molecular basis known. |
| notation |
217300 |
| OMIM Entry Type |
3 |
| OMIM MimType Value |
pound |
| prefLabel |
CORNEA PLANA 2, AUTOSOMAL RECESSIVE |
| Scope Statement |
Caused by mutation in the keratocan gene (KERA, 603288.0001) [MOLECULAR BASIS] |
| tui |
T047 |
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| Delete | Mapping To | Ontology | Source |
|---|---|---|---|
| http://purl.bioontology.org/ontology/MESH/C565677 | Medical Subject Headings / 医学主题词表 | CUI |