Robinow Syndrome

Preferred Label : Robinow Syndrome;

NCIt definition : A rare autosomal recessive or dominant inherited disorder. The autosomal recessive form is caused by mutations in the ROR2 gene. There is no causative mutation identified for the autosomal dominant form. It is manifested with short limbs, abnormal facial features, underdeveloped genitalia, and wedge-shaped vertebrae.;

Détails

Origin ID

C85048;

UMLS CUI

C0265205;

Currated CISMeF NLP mapping
- Autosomal dominant Robinow syndrome [ORDO Disease]
- Robinow Syndrome [MeSH Supplementary Concept]
- Robinow Syndrome [MeSH concept]
- Robinow syndrome [PASCAL descriptor]
- Robinow syndrome [DO Concept]
- Robinow syndrome [Disease (Nov.)]
- Robinow syndrome [ICD-11 More detail]
- Robinow syndrome [MedDRA Preferred Term]
- Robinow syndrome [OMIM phenotypic series]
- Robinow syndrome [ORDO Disease]
- Robinow syndrome (disorder) [SNOMED CT concept]
- Robinow syndrome, autosomal dominant 1 [OMIM Phenotype]
- robinow syndrome [SNOMED Notion]
DO Cross reference
- Robinow syndrome [DO Concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Autosomal dominant Robinow syndrome [ORDO Disease]
- Robinow Syndrome [MeSH concept]
- Robinow Syndrome [MeSH Supplementary Concept]
- Robinow syndrome [ORDO Disease]
- Robinow syndrome [PASCAL descriptor]
- Robinow syndrome [DO Concept]
- Robinow syndrome [Disease (Nov.)]
- Robinow syndrome [MedDRA Preferred Term]
- Robinow syndrome (disorder) [SNOMED CT concept]
- Robinow syndrome, autosomal dominant 1 [OMIM Phenotype]
- robinow syndrome [SNOMED Notion]
Validated automatic mappings to BTNT
- Robinow Syndrome [MeSH concept]
- Robinow syndrome, autosomal dominant 1 [OMIM Phenotype]
disease_has_finding
- Rare Lesion [NCIt concept]
disease_mapped_to_gene
- ROR2 Gene [NCIt concept]

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

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