Branchiootorenal syndrome 2

Preferred Label : Branchiootorenal syndrome 2;

Symbol : BOR2;

CISMeF acronym : BOR2;

Type : Phenotype, molecular basis known;

Prefixed ID : #610896;

Details

Origin ID

610896;

UMLS CUI

C1970479;

Automatic exact mappings (from CISMeF team)
- SIX5 wt Allele [NCIt concept]
- branchio-oto-renal syndrome [MeSH Descriptor]
- branchiootorenal syndrome 2 [DO Concept]
Currated CISMeF NLP mapping
- Branchiootorenal syndrome 2 [MeSH concept]
DO Cross reference
- branchiootorenal syndrome 2 [DO Concept]
Genes related to phenotype
- Six homeobox 5 [OMIM gene]
HPO term(s)
- Autosomal dominant inheritance [HPO term]
- Hearing impairment [HPO term]
- Hemifacial hypoplasia [HPO term]
- Preauricular skin tag [HPO term]
- Renal dysplasia [HPO term]
- Renal insufficiency [HPO term]
ORDO concept(s)
- BOR syndrome [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Branchiootorenal syndrome 2 [MeSH concept]
Validated automatic mappings to NTBT
- BOR syndrome [ORDO Disease]

Keyword's position in hierarchy(ies) :

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