Van Maldergem Syndrome 2

Preferred Label : Van Maldergem Syndrome 2;

NCIt synonyms : VMLDS2;

NCIt definition : An autosomal recessive condition caused by mutation(s) in the FAT4 gene, encoding protocadherin Fat 4. It is characterized by periventricular nodular heterotopia, renal hypoplasia, hand anomalies, and skeletal dysplasia.;

Details

Origin ID

C188994;

UMLS CUI

C3809875;

Automatic exact mappings (from CISMeF team)
- Van Maldergem syndrome 2 [DO Concept]
- Van maldergem syndrome 2 [OMIM Phenotype]
Currated CISMeF NLP mapping
- Van Maldergem syndrome 2 [DO Concept]
- Van maldergem syndrome 2 [OMIM Phenotype]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Van maldergem syndrome 2 [OMIM Phenotype]
concept_is_in_subset
- Cellosaurus Disease Terminology [NCIt concept]
- Cellosaurus Terminology [NCIt concept]
disease_has_finding
- Rare Lesion [NCIt concept]
disease_mapped_to_gene
- FAT4 Gene [NCIt concept]

Keyword's position in hierarchy(ies) :

You can consult :

recommendations
documents concerning education
documents for patients