Acromegaloid facial appearance syndrome

Preferred Label : Acromegaloid facial appearance syndrome;

Type : Phenotype or locus, molecular basis unknown;

Alternative titles and symbols : Afa syndrome; Thick lips and oral mucosa;

Inheritance : Autosomal dominant;

Prefixed ID : %102150;

Details

Origin ID

102150;

UMLS CUI

C0796280;

CISMeF manual mappings
- Acromegaloid facial appearance syndrome (disorder) [SNOMED CT concept]
Currated CISMeF NLP mapping
- Acromegaloid facial appearance syndrome [MeSH concept]
- Acromegaloid facial appearance syndrome [ORDO Disease]
- acromegaloid facial appearance syndrome [MeSH Supplementary Concept]
HPO term(s)
- Abnormality of the mouth [HPO term]
- Autosomal dominant inheritance [HPO term]
- Blepharophimosis [HPO term]
- Bulbous nose [HPO term]
- Highly arched eyebrow [HPO term]
- Highly arched eyebrows [HPO term]
- Intellectual disability, mild [HPO term]
- Large for gestational age [HPO term]
- Large hands [HPO term]
- Specific learning disability [HPO term]
- Tapered finger [HPO term]
ORDO concept(s)
- Acromegaloid facial appearance syndrome [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Acromegaloid facial appearance syndrome [ORDO Disease]
- Acromegaloid facial appearance syndrome [MeSH concept]
- Acromegaloid facial appearance syndrome (disorder) [SNOMED CT concept]
- Hughes syndrome [MedDRA LLT]
- acromegaloid facial appearance syndrome [MeSH Supplementary Concept]

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