Grange syndrome

Preferred Label : Grange syndrome;

Symbol : GRNG;

CISMeF acronym : GRNG;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Arterial occlusive disease, progressive, with hypertension, heart defects, bone fragility, and brachysyndactyly; Grange occlusive arterial syndrome;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the YY1-associated protein-1 gene (607860.0001);

Prefixed ID : #602531;

Détails

Origin ID

602531;

UMLS CUI

C1865267;

Currated CISMeF NLP mapping
- Grange syndrome [ICD-11 More detail]
- Grange syndrome [ORDO Disease]
- Progressive arterial occlusive disease, hypertension, heart defect, bone fragility, brachysyndactyly syndrome (disorder) [SNOMED CT concept]
- arterial occlusive disease, progressive, with hypertension, heart defects, bone fragility, and brachysyndactyly [MeSH Supplementary Concept]
- arterial occlusive disease, progressive, with hypertension, heart defects, bone fragility, and brachysyndactyly [MeSH concept]
Genes related to phenotype
- Yy1 associated protein 1 [OMIM gene]
HPO term(s)
- Autosomal recessive inheritance [HPO term]
- Bicuspid aortic valve [HPO term]
- Brachydactyly [HPO term]
- Carotid artery stenosis [HPO term]
- Coronary artery stenosis [HPO term]
- Decreased body weight [HPO term]
- Finger clinodactyly [HPO term]
- Increased susceptibility to fractures [HPO term]
- Intellectual disability [HPO term]
- Recurrent fractures [HPO term]
- Renal artery stenosis [HPO term]
- Renovascular hypertension [HPO term]
- Syndactyly [HPO term]
ORDO concept(s)
- Grange syndrome [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Grange syndrome [ORDO Disease]
- Grange syndrome [ICD-11 More detail]
- Progressive arterial occlusive disease, hypertension, heart defect, bone fragility, brachysyndactyly syndrome (disorder) [SNOMED CT concept]
- arterial occlusive disease, progressive, with hypertension, heart defects, bone fragility, and brachysyndactyly [MeSH Supplementary Concept]
- arterial occlusive disease, progressive, with hypertension, heart defects, bone fragility, and brachysyndactyly [MeSH concept]

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

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