Geleophysic dysplasia 2

Preferred Label : Geleophysic dysplasia 2;

Symbol : GPHYSD2;

CISMeF acronym : GPHYSD2;

Type : Phenotype, molecular basis known;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the fibrillin 1 gene (FBN1, 134797.0055);

Laboratory abnormalities : Lysosomal-like storage vacuoles in various tissues;

Prefixed ID : #614185;

Details

Origin ID

614185;

UMLS CUI

C3280054;

Automatic exact mappings (from CISMeF team)
- geleophysic dysplasia 2 [DO Concept]
DO Cross reference
- geleophysic dysplasia 2 [DO Concept]
Genes related to phenotype
- Fibrillin 1 [OMIM gene]
HPO term(s)
- Aortic valve stenosis [HPO term]
- Autosomal dominant inheritance [HPO term]
- Cone-shaped epiphysis [HPO term]
- Delayed skeletal maturation [HPO term]
- Full cheeks [HPO term]
- Hepatomegaly [HPO term]
- Hypertelorism [HPO term]
- Joint stiffness [HPO term]
- Limitation of joint mobility [HPO term]
- Long philtrum [HPO term]
- Mitral regurgitation [HPO term]
- Mitral stenosis [HPO term]
- Mitral valve prolapse [HPO term]
- Ovoid vertebral bodies [HPO term]
- Pulmonary arterial hypertension [HPO term]
- Respiratory insufficiency [HPO term]
- Short foot [HPO term]
- Short nose [HPO term]
- Short palm [HPO term]
- Short stature [HPO term]
- Smooth philtrum [HPO term]
- Thickened skin [HPO term]
- Thin upper lip vermilion [HPO term]
- Tip-toe gait [HPO term]
- Toe walking [HPO term]
- Tricuspid stenosis [HPO term]
ORDO concept(s)
- Geleophysic dysplasia [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]

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