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loading...| Preferred Name |
CORNEAL DYSTROPHY, POSTERIOR POLYMORPHOUS, 2 |
| Synonyms |
PPCD2 |
| ID |
http://purl.bioontology.org/ontology/OMIM/609140 |
| altLabel |
PPCD2 |
| cui |
C1852795 |
| Gene Locus |
1p34.3-p32.3 |
| Gene Symbol |
PPCD2 FECD1 COL8A2 |
| Has manifestation |
http://purl.bioontology.org/ontology/OMIM/MTHU058739 http://purl.bioontology.org/ontology/OMIM/MTHU058737 |
| MIMTYPEMEANING |
Phenotype description, molecular basis known. |
| notation |
609140 |
| OMIM Entry Type |
3 |
| OMIM MimType Value |
pound |
| prefLabel |
CORNEAL DYSTROPHY, POSTERIOR POLYMORPHOUS, 2 |
| Scope Statement |
Onset by 12 years of age [MISCELLANEOUS] Based on 3 patients in 2 families (last curated December 2017) [MISCELLANEOUS] Caused by mutation in the collagen type VIII alpha-2 gene (120252.0001) [MOLECULAR BASIS] Limited clinical details available [MISCELLANEOUS] |
| tui |
T047 |
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| Delete | Mapping To | Ontology | Source |
|---|---|---|---|
| http://purl.bioontology.org/ontology/MESH/C565176 | Medical Subject Headings / 医学主题词表 | CUI | |
| http://purl.bioontology.org/ontology/MESH/C565176 | Medical Subject Headings / 医学主题词表 | LOOM |