Metadata | |
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ID | DOID:0060920 |
Name | otosclerosis 1 |
Definition | An otosclerosis that is characterized by isolated endochondral bone sclerosis of the labyrinthine capsule and that has_material_basis_in the locus associated with otosclerosis-1 gene (OTSC1) on chromosome 15q26.1. https://pubmed.ncbi.nlm.nih.gov/9425236/ |
Xrefs | |
Synonyms |
OTSC1 [EXACT] |
Parent Relationships |
is_a otosclerosis |
Subclass Logical Relationships |
has material basis in some autosomal dominant inheritance |