Microcephaly-deafness syndrome

Preferred Label : Microcephaly-deafness syndrome;

Type : Other, mainly phenotypes with suspected mendelian basis;

Inheritance : Autosomal dominant;

Prefixed ID : 156620;

Details

Origin ID

156620;

UMLS CUI

C0796062;

Automatic exact mappings (from CISMeF team)
- Microcephaly deafness syndrome [MeSH concept]
- microcephaly deafness syndrome [MeSH Supplementary Concept]
Currated CISMeF NLP mapping
- Microcephaly-deafness-intellectual disability syndrome [ORDO Disease]
HPO term(s)
- Autosomal dominant inheritance [HPO term]
- Cupped ear [HPO term]
- Deafness [HPO term]
- Everted lower lip vermilion [HPO term]
- Facial asymmetry [HPO term]
- Hearing impairment [HPO term]
- Intellectual disability [HPO term]
- Low-set ears [HPO term]
- Low-set, cup-shaped ears [HPO term]
- Microcephaly [HPO term]
- Micrognathia [HPO term]
- Prominent glabella [HPO term]
- Protruding lower lip [HPO term]
ORDO concept(s)
- Microcephaly-deafness-intellectual disability syndrome [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Microcephaly deafness syndrome [MeSH concept]
- Microcephaly with deafness and intellectual disability syndrome (disorder) [SNOMED CT concept]
- Microcephaly-deafness-intellectual disability syndrome [ORDO Disease]
- microcephaly deafness syndrome [MeSH Supplementary Concept]

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