Greig Syndrome

Preferred Label : Greig Syndrome;

NCIt synonyms : Greig Cephalosyndactyly Syndrome; Greig's Syndrome; GCPS; Greig s Syndrome; Greig Cephalopolysyndactyly Syndrome;

NCIt definition : An autosomal dominant genetic disorder caused by mutations in the GLI3 gene. It is characterized by physical abnormalities of the fingers and/or toes (extra fingers and/ or toes, fusion of the fingers and/or toes), large size head with prominent forehead and hypertelorism.;

Details

Origin ID

C35255;

UMLS CUI

C0265306;

Currated CISMeF NLP mapping
- Greig cephalopolysyndactyly syndrome [MeSH concept]
- Greig cephalopolysyndactyly syndrome [OMIM Phenotype]
- Greig cephalopolysyndactyly syndrome [ORDO Disease]
- Greig cephalopolysyndactyly syndrome (disorder) [SNOMED CT concept]
- Greig's syndrome [MedDRA Preferred Term]
- cephalopolysyndactyly syndrome [Disease (Nov.)]
- greig cephalopolysyndactyly syndrome [SNOMED Notion]
- greig cephalopolysyndactyly syndrome [MeSH Supplementary Concept]
DO Cross reference
- Greig cephalopolysyndactyly syndrome [DO Concept]
False automatic mappings
- GCP (supplement) [MeSH concept]
Semantic type(s)
- Congenital Abnormality [UMLS semantic type]
UMLS correspondences (same concept)
- Greig cephalopolysyndactyly syndrome [ORDO Disease]
- Greig cephalopolysyndactyly syndrome [MeSH concept]
- Greig cephalopolysyndactyly syndrome [OMIM Phenotype]
- Greig cephalopolysyndactyly syndrome [DO Concept]
- Greig cephalopolysyndactyly syndrome (disorder) [SNOMED CT concept]
- Greig's syndrome [MedDRA Preferred Term]
- cephalopolysyndactyly syndrome [Disease (Nov.)]
- greig cephalopolysyndactyly syndrome [MeSH Supplementary Concept]
- greig cephalopolysyndactyly syndrome [SNOMED Notion]
concept_is_in_subset
- Cellosaurus Disease Terminology [NCIt concept]
- Cellosaurus Terminology [NCIt concept]
disease_has_associated_gene
- GLI3 Gene [NCIt concept]
- GLI3 wt Allele [NCIt concept]
disease_mapped_to_gene
- GLI3 Gene [NCIt concept]

Keyword's position in hierarchy(ies) :

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