Simpson Golabi Behmel Syndrome Type 1

Preferred Label : Simpson Golabi Behmel Syndrome Type 1;

NCIt synonyms : SGBS1;

NCIt definition : A rare, X-linked inherited syndrome caused by mutations in the GPC3 and GPC4 genes. It is characterized by pre-and postnatal overgrowth, coarse facial features, macrocephaly, macroglossia, congenital heart defects, and intellectual disability.;

Details

Origin ID

C118787;

UMLS CUI

C0796154;

Currated CISMeF NLP mapping
- Simpson-Golabi-Behmel syndrome type 1 [DO Concept]
DO Cross reference
- Simpson-Golabi-Behmel syndrome type 1 [DO Concept]
See also inter- (CISMeF)
- glypican 3 [ORDO Gene]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Bulldog syndrome [MedDRA LLT]
- Golabi-Rosen syndrome [MedDRA LLT]
- Simpson-Golabi-Behmel syndrome [ORDO Disease]
- Simpson-Golabi-Behmel syndrome [PASCAL descriptor]
- Simpson-Golabi-Behmel syndrome [MeSH Supplementary Concept]
- Simpson-Golabi-Behmel syndrome [MeSH concept]
- Simpson-Golabi-Behmel syndrome type 1 [DO Concept]
- Simpson-golabi-behmel syndrome, type 1 [OMIM Phenotype]
Validated automatic mappings to NTBT
- Simpson-Golabi-Behmel syndrome [ORDO Disease]
- Simpson-Golabi-Behmel syndrome [MeSH Supplementary Concept]
- Simpson-Golabi-Behmel syndrome [PASCAL descriptor]
- Simpson-Golabi-Behmel syndrome [MeSH concept]
- Simpson-Golabi-Behmel syndrome (disorder) [SNOMED CT concept]
- Simpson-golabi-behmel syndrome, type 1 [OMIM Phenotype]
concept_is_in_subset
- Cellosaurus Disease Terminology [NCIt concept]
- Cellosaurus Terminology [NCIt concept]
disease_mapped_to_gene
- GPC3 Gene [NCIt concept]
- GPC4 Gene [NCIt concept]
related_to_genetic_biomarker
- GPC3 Gene [NCIt concept]
- GPC4 Gene [NCIt concept]

Keyword's position in hierarchy(ies) :

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