Pierson Syndrome

Preferred Label : Pierson Syndrome;

Alternative definition : NICHD: An autosomal recessive disorder caused by mutation(s) in the LAMB2 gene, encoding laminin subunit beta-2. It is characterized by congenital nephrotic syndrome with diffuse mesangial sclerosis and distinct ocular abnormalities.;

Détails

Origin ID

C128145;

UMLS CUI

C1836876;

Currated CISMeF NLP mapping
- Pierson syndrome [DO Concept]
- Pierson syndrome [OMIM Phenotype]
- Pierson syndrome [MeSH concept]
- Pierson syndrome [ORDO Disease]
- Pierson syndrome [ICD-11 More detail]
- Pierson syndrome (disorder) [SNOMED CT concept]
- pierson syndrome [MeSH Supplementary Concept]
DO Cross reference
- Pierson syndrome [DO Concept]
Has associated anatomic sites
- Genitourinary System [NCIt concept]
- Kidney [NCIt concept]
- Urinary System [NCIt concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Pierson syndrome [ORDO Disease]
- Pierson syndrome [DO Concept]
- Pierson syndrome [OMIM Phenotype]
- Pierson syndrome [MeSH concept]
- Pierson syndrome [Disease (Nov.)]
- Pierson syndrome (disorder) [SNOMED CT concept]
- pierson syndrome [MeSH Supplementary Concept]
concept_is_in_subset
- NICHD Terminology [NCIt concept]
- Pediatric Nephrology Terminology [NCIt concept]
disease_has_primary_anatomic_site
- Genitourinary System [NCIt concept]
- Kidney [NCIt concept]
- Urinary System [NCIt concept]
disease_mapped_to_gene
- LAMB2 Gene [NCIt concept]

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

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