Nance-Horan syndrome

Term ID

DOID:0060599

Synonyms

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. (3)

References

• GARD:7161
• MESH:C538336
• MIM:302350
• ORDO:627
• SNOMEDCT_US_2023_03_01:445257004
• UMLS_CUI:C0796085

Ontology

Human Disease   ( DOID:0060599 )