| Metadata | |
|---|---|
| ID | DOID:0060835 |
| Name | isolated microphthalmia 6 |
| Definition | An isolated microphthalmia characterized by autosomal recessive inheritance reduction in eye size that is restricted to the posterior segment of the eye, extreme hyperopia, and short axial length that has_material_basis_in homozygous or compound heterozygous mutation in the PRSS56 gene on chromosome 2q37. https://www.ncbi.nlm.nih.gov/pubmed/15823920, https://www.ncbi.nlm.nih.gov/pubmed/21397065 |
| Xrefs | |
| Subsets |
DO_rare_slim |
| Synonyms |
MCOP6 [EXACT] posterior nonsyndromic microphthalmia [EXACT] |
| Parent Relationships | |
| Subclass Logical Relationships |
has material basis in some autosomal recessive inheritance |