Microtia, hearing impairment, and cleft palate

Preferred Label : Microtia, hearing impairment, and cleft palate;

Type : Phenotype, molecular basis known;

Included titles and symbols : Microtia with or without hearing impairment;

Inheritance : Autosomal recessive; Autosomal dominant;

Molecular basis : Caused by mutation in the homeobox A2 gene (HOXA2, 604685.0001);

Prefixed ID : #612290;

Détails

Origin ID

612290;

UMLS CUI

C2676772;

CISMeF manual mappings
- Bilateral microtia with deafness and cleft palate syndrome (disorder) [SNOMED CT concept]
Currated CISMeF NLP mapping
- Bilateral microtia-deafness-cleft palate syndrome [ORDO Disease]
- microtia, hearing impairment, and cleft palate [MeSH concept]
- microtia, hearing impairment, and cleft palate [MeSH Supplementary Concept]
Genes related to phenotype
- Homeobox a2 [OMIM gene]
HPO term(s)
- Autosomal dominant inheritance [HPO term]
- Autosomal recessive inheritance [HPO term]
- Cleft palate [HPO term]
- Congenital onset [HPO term]
- Increased incisura length [HPO term]
- Microtia [HPO term]
- Microtia [HPO term]
- Mixed hearing impairment [HPO term]
- Overfolded helix [HPO term]
- Stenosis of the external auditory canal [HPO term]
ORDO concept(s)
- Bilateral microtia-deafness-cleft palate syndrome [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Bilateral microtia-deafness-cleft palate syndrome [ORDO Disease]
- microtia, hearing impairment, and cleft palate [MeSH Supplementary Concept]
- microtia, hearing impairment, and cleft palate [MeSH concept]

Position du mot-clé dans l'(les) arborescence(s) :

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