Hypertrophy of the breast, juvenile

Preferred Label : Hypertrophy of the breast, juvenile;

Symbol : JHB;

CISMeF acronym : JHB;

Type : Phenotype or locus, molecular basis unknown;

Alternative titles and symbols : Gigantomastia, juvenile;

Description : Familial juvenile hypertrophy of the breast (JHB) is a rare condition characterized by gigantomastia in peripubertal females. The pathology is limited to the breast with otherwise normal growth and development (summary by Genzer-Nir et al., 2010). A syndrome has been described in which affected females display JHB in association with onychodystrophy/anonychia and abnormalities of the distal phalanges (ODP; see 106995), whereas males have only ODP (mammary-digital-nail syndrome; 613689).;

Inheritance : Sex-limited autosomal dominant;

Prefixed ID : %113670;

Details

Origin ID

113670;

UMLS CUI

C0405471;

Automatic exact mappings (from CISMeF team)
- Familial juvenile hypertrophy of the breast [ORDO Disease]
- gigantomastia [MeSH Supplementary Concept]
Currated CISMeF NLP mapping
- Pubertal breast hypertrophy (disorder) [SNOMED CT concept]
- juvenile gigantomastia [MeSH concept]
HPO term(s)
- Abnormal thorax morphology [HPO term]
- Sex-limited autosomal dominant [HPO term]
ORDO concept(s)
- Familial juvenile hypertrophy of the breast [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Pubertal breast hypertrophy (disorder) [SNOMED CT concept]
- juvenile gigantomastia [MeSH concept]

Keyword's position in hierarchy(ies) :

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