SERKAL Syndrome

Preferred Label : SERKAL Syndrome;

NCIt synonyms : 46,XX Sex Reversal with Dysgenesis of Kidneys, Adrenals, and Lungs;

NCIt related terms : 46,XX Sex Reversal with Dysgenesis of Kidneys Adrenals and Lungs;

NCIt definition : An autosomal recessive condition characterized by female to male sex reversal and kidney, adrenal, and lung dysgenesis, due to mutation(s) in the WNT4 gene.;

Alternative definition : NICHD: An autosomal recessive condition characterized by female to male sex reversal and kidney, adrenal, and lung dysgenesis due to mutation(s) in the WNT4 gene.;

Détails

Origin ID

C123726;

UMLS CUI

C2678492;

Currated CISMeF NLP mapping
- 46,XX sex reversal with dysgenesis of kidneys, adrenals, and lungs [OMIM Phenotype]
- SERKAL syndrome [ORDO Disease]
- Sex reversion, kidney, adrenal and lung dysgenesis syndrome (disorder) [SNOMED CT concept]
- sex reversal, female, with dysgenesis of kidneys, adrenals, and lungs [MeSH Supplementary Concept]
- sex reversal, female, with dysgenesis of kidneys, adrenals, and lungs [MeSH concept]
Has associated anatomic sites
- Endocrine Gland [NCIt concept]
- Endocrine System [NCIt concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- 46,XX sex reversal with dysgenesis of kidneys, adrenals, and lungs [OMIM Phenotype]
- SERKAL syndrome [ORDO Disease]
- Sex reversion, kidney, adrenal and lung dysgenesis syndrome (disorder) [SNOMED CT concept]
- sex reversal, female, with dysgenesis of kidneys, adrenals, and lungs [MeSH Supplementary Concept]
- sex reversal, female, with dysgenesis of kidneys, adrenals, and lungs [MeSH concept]
concept_is_in_subset
- NICHD Terminology [NCIt concept]
- Pediatric Endocrinology Terminology [NCIt concept]
disease_has_primary_anatomic_site
- Endocrine System [NCIt concept]
disease_mapped_to_gene
- WNT4 Gene [NCIt concept]

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

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