Brachymorphism-onychodysplasia-dysphalangism syndrome

Preferred Label : Brachymorphism-onychodysplasia-dysphalangism syndrome;

Type : Other, mainly phenotypes with suspected mendelian basis;

Alternative titles and symbols : Bod syndrome;

Inheritance : Autosomal dominant;

Prefixed ID : 113477;

Details

Origin ID

113477;

UMLS CUI

C1862082;

Currated CISMeF NLP mapping
- Brachymorphism-onychodysplasia-dysphalangism syndrome [MeSH concept]
- Brachymorphism-onychodysplasia-dysphalangism syndrome [ORDO Disease]
- brachymorphism-onychodysplasia-dysphalangism syndrome [MeSH Supplementary Concept]
HPO term(s)
- Abnormal facial shape [HPO term]
- Anonychia [HPO term]
- Autosomal dominant inheritance [HPO term]
- Congenital pulmonary airway malformation [HPO term]
- Cystic adenomatoid lung disease [HPO term]
- Microcephaly [HPO term]
- Nail dysplasia [HPO term]
- Nail dysplasia/aplasia [HPO term]
- Pointed chin [HPO term]
- Short distal phalanx of the 5th finger [HPO term]
- Short middle phalanx of the 5th finger [HPO term]
- Short stature [HPO term]
- Wide mouth [HPO term]
- Wide nose [HPO term]
ORDO concept(s)
- Brachymorphism-onychodysplasia-dysphalangism syndrome [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Brachymorphism with onychodysplasia and dysphalangism syndrome (disorder) [SNOMED CT concept]
- Brachymorphism-onychodysplasia-dysphalangism syndrome [ORDO Disease]
- Brachymorphism-onychodysplasia-dysphalangism syndrome [MeSH concept]
- brachymorphism-onychodysplasia-dysphalangism syndrome [MeSH Supplementary Concept]

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