Mandibulofacial dysostosis with alopecia

Preferred Label : Mandibulofacial dysostosis with alopecia;

Symbol : MFDA;

CISMeF acronym : MFDA;

Type : Phenotype, molecular basis known;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the endothelin receptor type A gene (EDNRA, 131243.0002);

Prefixed ID : #616367;

Details

Origin ID

616367;

UMLS CUI

C4225349;

CISMeF manual mappings
- mandibulofacial dysostosis with alopecia [DO Concept]
Currated CISMeF NLP mapping
- Mandibulofacial dysostosis with alopecia [ORDO Disease]
- Mandibulofacial dysostosis with alopecia (disorder) [SNOMED CT concept]
DO Cross reference
- mandibulofacial dysostosis with alopecia [DO Concept]
Genes related to phenotype
- Endothelin receptor, type a [OMIM gene]
HPO term(s)
- Alopecia [HPO term]
- Autosomal dominant inheritance [HPO term]
- Bicuspid aortic valve [HPO term]
- Cleft palate [HPO term]
- Conductive hearing impairment [HPO term]
- Cupped ear [HPO term]
- Delayed eruption of primary teeth [HPO term]
- Dental crowding [HPO term]
- Everted lower lip vermilion [HPO term]
- Facial asymmetry [HPO term]
- Glossoptosis [HPO term]
- Hydroureter [HPO term]
- Hypoplasia of the maxilla [HPO term]
- Low-set ears [HPO term]
- Lower eyelid coloboma [HPO term]
- Mandibulofacial dysostosis [HPO term]
- Micrognathia [HPO term]
- Preauricular pit [HPO term]
- Preauricular skin tag [HPO term]
- Protruding ear [HPO term]
- Sparse and thin eyebrow [HPO term]
- Sparse eyelashes [HPO term]
- Stenosis of the external auditory canal [HPO term]
- Trismus [HPO term]
- Wide nasal bridge [HPO term]
ORDO concept(s)
- Mandibulofacial dysostosis with alopecia [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Mandibulofacial dysostosis with alopecia [ORDO Disease]
- Mandibulofacial dysostosis with alopecia (disorder) [SNOMED CT concept]
- mandibulofacial dysostosis with alopecia [DO Concept]

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