| Metadata | |
|---|---|
| ID | DOID:0110266 |
| Name | cataract 9 multiple types |
| Definition | A cataract that has_material_basis_in autosomal recessive or autosomal dominant inheritance of heterozygous or homozygous mutation in the CRYAA gene, which encodes alpha-A-crystallin, on chromosome 21q22. https://www.ncbi.nlm.nih.gov/pubmed/26867756, https://www.omim.org/entry/604219 |
| Xrefs | |
| Synonyms |
autosomal recessive congenital cataract 1 [NARROW] cataract 9 multiple types with or without microcornea [EXACT] CATC1 [NARROW] CTRCT9 [EXACT] |
| Parent Relationships |
is_a autosomal dominant disease is_a cataract |
| Subclass Logical Relationships |
has material basis in some autosomal dominant inheritance has material basis in some autosomal recessive inheritance |