Radial aplasia, X-linked

Preferred Label : Radial aplasia, X-linked;

Type : Other, mainly phenotypes with suspected mendelian basis;

Alternative titles and symbols : Radial aplasia and anogenital anomalies;

Inheritance : X-linked;

Prefixed ID : 312190;

Détails

Origin ID

312190;

UMLS CUI

C1839410;

Automatic exact mappings (from CISMeF team)
- Absent radius-anogenital anomalies syndrome [ORDO Disease]
- Radius absent anogenital anomalies [MeSH concept]
- radius absent anogenital anomalies [MeSH Supplementary Concept]
HPO term(s)
- Absent radius [HPO term]
- Anal atresia [HPO term]
- Hydrocephalus [HPO term]
- Penile hypospadias [HPO term]
- X-linked inheritance [HPO term]
ORDO concept(s)
- Absent radius-anogenital anomalies syndrome [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Absent radius-anogenital anomalies syndrome [ORDO Disease]
- Radius absent anogenital anomalies [MeSH concept]
- radius absent anogenital anomalies [MeSH Supplementary Concept]

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

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