Goiter, multinodular, cystic renal disease, and digital anomalies

Preferred Label : Goiter, multinodular, cystic renal disease, and digital anomalies;

CISMeF acronym : MNG/CRD/DA;

Type : Other, mainly phenotypes with suspected mendelian basis;

Alternative titles and symbols : MNG/CRD/DA; Multinodular goiter/cystic renal disease/digital anomalies;

Inheritance : Autosomal dominant with variable expression and incomplete penetrance;

Prefixed ID : 138790;

Détails

Origin ID

138790;

UMLS CUI

C1841853;

Currated CISMeF NLP mapping
- Daneman Davy Mancer syndrome [MeSH concept]
- Multinodular goiter, cystic kidney, polydactyly syndrome (disorder) [SNOMED CT concept]
- Multinodular goiter-cystic kidney-polydactyly syndrome [ORDO Disease]
- daneman davy mancer syndrome [MeSH Supplementary Concept]
HPO term(s)
- Abnormality of the genitourinary system [HPO term]
- Autosomal dominant inheritance [HPO term]
- Autosomal dominant with variable expression and incomplete penetrance [HPO term]
- Bilateral triphalangeal thumbs [HPO term]
- Multinodular goiter [HPO term]
- Postaxial hand polydactyly [HPO term]
- Preaxial foot polydactyly [HPO term]
- Renal cyst [HPO term]
ORDO concept(s)
- Multinodular goiter-cystic kidney-polydactyly syndrome [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Daneman Davy Mancer syndrome [MeSH concept]
- Multinodular goiter, cystic kidney, polydactyly syndrome (disorder) [SNOMED CT concept]
- Multinodular goiter-cystic kidney-polydactyly syndrome [ORDO Disease]
- daneman davy mancer syndrome [MeSH Supplementary Concept]

Position du mot-clé dans l'(les) arborescence(s) :

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