obophenotype / human-phenotype-ontology

Ontology for the description of human clinical features
http://obophenotype.github.io/human-phenotype-ontology/
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add term Incus ankylosis #10557

Open lisannesw opened 1 month ago

lisannesw commented 1 month ago

Preferred term label: Incus ankylosis

Synonyms Incus fixation

Definition (free text, please give PubMed ID) Incus ankylosis refers to congenital or acquired fixation of the incus, which is associated with conductive hearing resulting from impairment of the sound-conduction mechanism (the external auditory canal, tympanic membrane, and/or middle-ear ossicles). PMID: 24969066

Parent term (use hpo.jax.org/app) Abnormality of the incus HP:0011453

Diseases characterized by this term ? (e.g. Orphanet or OMIM number) Craniometaphyseal dysplasia (omim123000), PMID16980979

Your nano-attribution (ORCID) Andreas Zankl: 0000-0001-8612-1062, @azankl Lisanne Wit: 0009-0007-1020-5412