FB2025_05 , released December 11, 2025
FB2025_05 , released December 11, 2025
CV Term Report
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General Information
Term Nance-Horan syndrome ID (Ontology) DOID:0060599 (Human Disease)
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.
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 Genes
 Nance-Horan syndrome       1
 for disease ribbon | Nance-Horan syndrome       1
 model of | Nance-Horan syndrome       1
Spanning Tree (Parents/Children)
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X-linked monogenic disease
 |__X-linked dominant disease__
disease                        |
 |__syndrome___________________|
                               Nance-Horan syndrome  1 rec.
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Is a X-linked dominant disease
syndrome
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Synonyms
Secondary IDs
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GARD:7161
MESH:C538336
MIM:302350
ORDO:627
SNOMEDCT_US_2023_03_01:445257004
UMLS_CUI:C0796085