Branchiootic syndrome 2

Preferred Label : Branchiootic syndrome 2;

Symbol : BOS2;

CISMeF acronym : BOS2;

Type : Phenotype or locus, molecular basis unknown;

Alternative titles and symbols : Bo syndrome 2;

Description : For a phenotypic description and a discussion of genetic heterogeneity of the branchiootic syndrome, see BOS1 (602588).;

Inheritance : Autosomal dominant;

Prefixed ID : %120502;

Details

Origin ID

120502;

UMLS CUI

C1852718;

Broader ORDO disease(s)
- Branchiootic syndrome [ORDO Disease]
Currated CISMeF NLP mapping
- branchiootic syndrome 2 [MeSH concept]
- branchiootic syndrome 2 [MeSH Supplementary Concept]
DO Cross reference
- branchiootic syndrome [DO Concept]
HPO term(s)
- Abnormality of the pinna [HPO term]
- Autosomal dominant inheritance [HPO term]
- Commissural lip pit [HPO term]
- Congenital hearing loss [HPO term]
- Hearing impairment [HPO term]
- Preauricular pit [HPO term]
ORDO concept(s)
- Branchiootic syndrome [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- branchiootic syndrome 2 [MeSH Supplementary Concept]
- branchiootic syndrome 2 [MeSH concept]

Keyword's position in hierarchy(ies) :

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