| Metadata | |
|---|---|
| ID | DOID:0111799 |
| Name | syndromic microphthalmia 1 |
| Definition | A syndromic microphthalmia characterized by unilateral or bilateral microphthalmia or anophthalmia and defects in the skeletal and genitourinary system that has_material_basis_in mutation in the NAA10 gene on chromosome Xq28. https://ghr.nlm.nih.gov/condition/lenz-microphthalmia-syndrome, https://pubmed.ncbi.nlm.nih.gov/30842225/, https://www.ncbi.nlm.nih.gov/pubmed/13300470, https://www.ncbi.nlm.nih.gov/pubmed/24431331 |
| Xrefs |
SNOMEDCT_US_2023_03_01:717222003 |
| Alternateids |
DOID:0111810 |
| Subsets |
DO_rare_slim |
| Synonyms |
Lenz dysplasia [EXACT] Lenz microphthalmia [EXACT] Lenz type microphthalmia [EXACT] MCOPS1 [EXACT] syndromic microphthalmia 4 [BROAD] |
| Parent Relationships |