Bifid nose with or without anorectal and renal anomalies

Preferred Label : Bifid nose with or without anorectal and renal anomalies;

Symbol : BNAR;

CISMeF acronym : BNAR;

Type : Phenotype, molecular basis known;

Prefixed ID : #608980;

Détails

Origin ID

608980;

UMLS CUI

C2750433;

Automatic exact mappings (from CISMeF team)
- Bifid nose - anorectal and renal anomalies [ICD-11 More detail]
Currated CISMeF NLP mapping
- BNAR syndrome [ORDO Disease]
- Bifid nose, anorectal anomaly, renal anomaly syndrome (disorder) [SNOMED CT concept]
- bifid nose with or without anorectal and renal anomalies [MeSH concept]
- bifid nose with or without anorectal and renal anomalies [MeSH Supplementary Concept]
Genes related to phenotype
- Fras1-related extracellular matrix protein 1 [OMIM gene]
HPO term(s)
- Anteriorly placed anus [HPO term]
- Autosomal recessive inheritance [HPO term]
- Bifid nose [HPO term]
- Brachycephaly [HPO term]
- Bulbous nose [HPO term]
- Ebstein anomaly of the tricuspid valve [HPO term]
- Intellectual disability, mild [HPO term]
- Low-set ears [HPO term]
- Overfolded helix [HPO term]
- Posteriorly rotated ears [HPO term]
- Precocious puberty [HPO term]
- Rectovaginal fistula [HPO term]
- Renal agenesis [HPO term]
- Short lingual frenulum [HPO term]
- Short philtrum [HPO term]
- Thick eyebrow [HPO term]
- Unilateral renal agenesis [HPO term]
- Widely-spaced maxillary central incisors [HPO term]
ORDO concept(s)
- BNAR syndrome [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- BNAR syndrome [ORDO Disease]
- Bifid nose, anorectal anomaly, renal anomaly syndrome (disorder) [SNOMED CT concept]
- bifid nose with or without anorectal and renal anomalies [MeSH Supplementary Concept]
- bifid nose with or without anorectal and renal anomalies [MeSH concept]

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