FB2025_05 , released December 11, 2025
FB2025_05 , released December 11, 2025
CV Term Report
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General Information
Term bilateral optic nerve hypoplasia ID (Ontology) DOID:0111531 (Human Disease)
Definition An optic nerve disease characterized by isolated optic nerve hypoplasia or aplasia that has_material_basis_in heterozygous mutation in the PAX6 gene on chromosome 11p13.
Also Known As "familial bilateral optic nerve hypoplasia" ; "isolated optic nerve hypoplasia/aplasia" ; "ONH"
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 Genes
 bilateral optic nerve hypoplasia       2
 for disease ribbon | bilateral optic nerve hypoplasia       2
 model of | bilateral optic nerve hypoplasia       2
Spanning Tree (Parents/Children)
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autosomal genetic disease
 |__autosomal dominant disease__
cranial nerve disease           |
 |__optic nerve disease_________|
                                bilateral optic nerve hypoplasia  2 rec.
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Is a autosomal dominant disease
optic nerve disease
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Synonyms
  • "familial bilateral optic nerve hypoplasia" EXACT
    "isolated optic nerve hypoplasia/aplasia" EXACT
    "ONH" EXACT OMO:0003012
Secondary IDs
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GARD:8419
ICD10CM:H47.03
ICD9CM:377.43
MESH:D000080344
MIM:165550
NCI:C98999
ORDO:137902
SNOMEDCT_US_2023_03_01:95499004
UMLS_CUI:C0338502