Amastia, bilateral, with ureteral triplication and dysmorphism

Preferred Label : Amastia, bilateral, with ureteral triplication and dysmorphism;

Type : Other, mainly phenotypes with suspected mendelian basis;

Inheritance : Autosomal dominant;

Prefixed ID : 104350;

Details

Origin ID

104350;

UMLS CUI

C1863015;

Currated CISMeF NLP mapping
- amastia, bilateral, with ureteral triplication and dysmorphism [MeSH concept]
- amastia, bilateral, with ureteral triplication and dysmorphism [MeSH Supplementary Concept]
HPO term(s)
- Absent nipple [HPO term]
- Autosomal dominant inheritance [HPO term]
- Congenital hip dislocation [HPO term]
- Cubitus valgus [HPO term]
- Depressed nasal bridge [HPO term]
- Downslanted palpebral fissures [HPO term]
- Epicanthus [HPO term]
- Flattened nasal bridge [HPO term]
- Hemivertebrae [HPO term]
- High palate [HPO term]
- High-arched palate [HPO term]
- Hydrocephalus [HPO term]
- Hydronephrosis [HPO term]
- Hypertelorism [HPO term]
- Low-set ears [HPO term]
- Mitral valve prolapse [HPO term]
- Patent ductus arteriosus [HPO term]
- Pectus excavatum [HPO term]
- Ptosis [HPO term]
- Scoliosis [HPO term]
- Syndactyly [HPO term]
- Umbilical hernia [HPO term]
- Ureteral triplication [HPO term]
- Wide nasal bridge [HPO term]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- amastia, bilateral, with ureteral triplication and dysmorphism [MeSH Supplementary Concept]
- amastia, bilateral, with ureteral triplication and dysmorphism [MeSH concept]

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