Geleophysic dysplasia 3

Preferred Label : Geleophysic dysplasia 3;

Symbol : GPHYSD3;

CISMeF acronym : GPHYSD3;

Type : Phenotype, molecular basis known;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the latent transforming growth factor-beta-binding protein-3 gene (LTBP3, 602090.0001);

Prefixed ID : #617809;

Details

Origin ID

617809;

UMLS CUI

C4540511;

Automatic exact mappings (from CISMeF team)
- geleophysic dysplasia 3 [DO Concept]
DO Cross reference
- geleophysic dysplasia 3 [DO Concept]
Genes related to phenotype
- Latent transforming growth factor-beta-binding protein 3 [OMIM gene]
HPO term(s)
- Anteverted nares [HPO term]
- Autosomal dominant inheritance [HPO term]
- Brachydactyly [HPO term]
- Bulbous nose [HPO term]
- Delayed skeletal maturation [HPO term]
- Depressed nasal bridge [HPO term]
- Dyspnea [HPO term]
- Epiphyseal dysplasia [HPO term]
- Hepatomegaly [HPO term]
- Hoarse voice [HPO term]
- Limb undergrowth [HPO term]
- Long philtrum [HPO term]
- Pneumonia [HPO term]
- Polyhydramnios [HPO term]
- Respiratory failure [HPO term]
- Round face [HPO term]
- Short foot [HPO term]
- Short stature [HPO term]
- Sleep apnea [HPO term]
- Subglottic stenosis [HPO term]
- Thick vermilion border [HPO term]
- Thickened skin [HPO term]
- Tracheal stenosis [HPO term]
- Wide nasal bridge [HPO term]
ORDO concept(s)
- Geleophysic dysplasia [ORDO Disease]
Semantic type(s)
- Congenital Abnormality [UMLS semantic type]

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