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Nance-Horan syndrome
Summary
- 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.
- Super Class
- X-linked dominant disease syndrome
External Links
- Disease Ontology
- DOID:0060599
- Mondo Disease Ontology
- MeSH
- UMLS
- ORDO
- OMIM
- GARD
- MGI genotype (from TogoID)
