Breasts and/or nipples, aplasia or hypoplasia of, 2

Preferred Label : Breasts and/or nipples, aplasia or hypoplasia of, 2;

Symbol : BNAH2;

CISMeF acronym : BNAH2;

Type : Phenotype, molecular basis known;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the F receptor-type protein-tyrosine phosphatase gene (PTPRF, 179590.0001);

Prefixed ID : #616001;

Details

Origin ID

616001;

UMLS CUI

C4014918;

Genes related to phenotype
- Protein-tyrosine phosphatase, receptor-type, f [OMIM gene]
HPO term(s)
- Absent nipple [HPO term]
- Anteverted nares [HPO term]
- Autosomal recessive inheritance [HPO term]
- Bilateral single transverse palmar creases [HPO term]
- Broad nasal tip [HPO term]
- Cryptorchidism [HPO term]
- Highly arched eyebrow [HPO term]
- Hypoplastic areola [HPO term]
- Hypoplastic nipples [HPO term]
- Male urethral meatus stenosis [HPO term]
- Small earlobe [HPO term]
- Smooth philtrum [HPO term]
- Widely spaced teeth [HPO term]
ORDO concept(s)
- Isolated congenital breast hypoplasia/aplasia [ORDO Disease]
Semantic type(s)
- Congenital Abnormality [UMLS semantic type]

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