Search Ontology:
Human Disease
Nance-Horan syndrome
- Term ID
- DOID:0060599
- Synonyms
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- 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
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- GARD:7161
- MESH:C538336
- MIM:302350
- ORDO:627
- SNOMEDCT_US_2023_03_01:445257004
- UMLS_CUI:C0796085
- Ontology
- Human Disease ( DOID:0060599 )
- is a type of
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Genes Involved
Zebrafish Models