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loading...| Preferred Name |
Peters anomaly |
| ID |
http://purl.bioontology.org/ontology/MESH/C537884 |
| cui |
C0344559 |
| Has mapping qualifier | |
| HM |
D000869/Q000002 D003318 D005124 |
| Inverse of RB |
0 |
| Mapped to |
http://purl.bioontology.org/ontology/MESH/D005124 |
| MDA |
20100825 |
| MeSH Frequency |
50 |
| MMR |
20150818 |
| notation |
C537884 |
| prefLabel |
Peters anomaly |
| SC |
3 |
| Scope Statement |
A hereditary, autosomal recessive eye abnormality consisting of central corneal LEUKOMA, absence of the posterior CORNEAL STROMA and DESCEMET MEMBRANE, and a variable degree of IRIS and lenticular attachments to the central aspect of the posterior CORNEA. It occurs as an isolated ocular abnormality or in association with other ocular defects; such as Krause-Kivlin syndrome (OMIM: 261540). Mutations in the CYP1B!, PITX2, and PAX6 genes have been identified. OMIM: 604229 |
| TERMUI |
T744070 |
| TH |
ORD (2010) OMIM (2013) |
| tui |
T019 |
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