Metadata | |
---|---|
ID | DOID:0060599 |
Name | Nance-Horan syndrome |
Definition | A syndrome that has_material_basis_in mutation in the NHS gene on chromosome Xp22 and is characterized by congenital cataract leading to profound vision loss, characteristic dysmorphic features and dental anomalies. https://en.wikipedia.org/wiki/Nance-Horan_syndrome, https://www.ncbi.nlm.nih.gov/pubmed/2246772, https://www.ncbi.nlm.nih.gov/pubmed/6467651 |
Xrefs |
SNOMEDCT_US_2023_03_01:445257004 |
Subsets |
DO_rare_slim |
Parent Relationships |
is_a syndrome |