Deafness, conductive stapedial, with ear malformation and facial palsy

Preferred Label : Deafness, conductive stapedial, with ear malformation and facial palsy;

Type : Other, mainly phenotypes with suspected mendelian basis;

Inheritance : Autosomal dominant;

Prefixed ID : 124490;

Details

Origin ID

124490;

UMLS CUI

C1852292;

Currated CISMeF NLP mapping
- Deafness-ear malformation-facial palsy syndrome [ORDO Disease]
- deafness, conductive stapedial, with ear malformation and facial palsy [MeSH concept]
- deafness, conductive stapedial, with ear malformation and facial palsy [MeSH Supplementary Concept]
HPO term(s)
- Abnormality of the stapes [HPO term]
- Autosomal dominant inheritance [HPO term]
- Bilateral sensorineural deafness [HPO term]
- Conductive deafness [HPO term]
- Conductive hearing impairment [HPO term]
- External ear malformation [HPO term]
- Facial palsy [HPO term]
- Facial paralysis [HPO term]
- Variable external ear malformation [HPO term]
ORDO concept(s)
- Deafness-ear malformation-facial palsy syndrome [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Deafness-ear malformation-facial palsy syndrome [ORDO Disease]
- deafness, conductive stapedial, with ear malformation and facial palsy [MeSH Supplementary Concept]
- deafness, conductive stapedial, with ear malformation and facial palsy [MeSH concept]

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