otosclerosis review

[lschriml]

EFO:0004213 ICD10CM:H80.80 ICD9CM:387.8 OMIM:166800 otosclerosis 1 OMIM:605727 otosclerosis 2 OMIM:608244 otosclerosis 3 OMIM:608484 CONGENITAL CORNEAL OPACITIES, CORNEA GUTTATA, AND CORECTOPIA OMIM:611571 otosclerosis 4 OMIM:611572 otosclerosis 7 OMIM:612096. otosclerosis 8 OMIM:615589 otosclerosis 10 ORDO:2794 NON RARE IN EUROPE: Familial otosclerosis SNOMEDCT_US_2021_03_01:194382008 UMLS_CUI:C0029696

OMIM:608787 otosclerosis 5

[lschriml]

@csbjohnson -- for this ticket: add child terms to DOID:12185 otosclerosis steps: in a ROBOT template create new child terms for the OMIM phenotypic series: PS166800 https://www.omim.org/phenotypicSeries/PS166800

-- for each disease term, add in dbxref OMIM, definition, the definition sources: use the reference provided in the 'Description' paragraph. -- if the Description of the subtype in OMIM includes 'characterized by' text that is distinct from the parent term's definition, that can also be included.

-- Each definition, start with : An otosclerosis that 'has_material_basis_in'

[Disease name] dbxref [definition text]

otosclerosis 1 OMIM:166800
a locus associated with otosclerosis-1 (OTSC1) has been mapped to chromosome 15q26.1. otosclerosis 2 OMIM:605727 OTSC2 loci on chromosome 7q otosclerosis 3 OMIM:608244 OTSC3 loci on chromosome 6p otosclerosis 4 OMIM:611571 OTSC4 loci on chromosome 16q; otosclerosis 5 OMIM:608787 OTSC5 loci on chromosome 3q22-q24 otosclerosis 7 OMIM:611572 OTSC7 loci on chromosome 6q13 otosclerosis 8 OMIM:612096 OTSC8 loci on chromosome 9p13.1-q21.11 otosclerosis 10 OMIM:615589 OTSC10 loci on chromosome 1q41-q44.

[csbjohnson]

Including Otosclerosis 11 OMIM: 620576 in the locus associated with Forkhead Box L1 gene (FOXL1) on chromosome 16q24.