Premature aging syndrome, penttinen type

Preferred Label : Premature aging syndrome, penttinen type;

Symbol : PENTT;

CISMeF acronym : PENTT;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Penttinen syndrome;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the platelet-derived growth factor receptor, beta polypeptide gene (PDGFRB, 173410.0006);

Prefixed ID : #601812;

Détails

Origin ID

601812;

UMLS CUI

C1866182;

Automatic exact mappings (from CISMeF team)
- Ramping (qualifier value) [SNOMED CT concept]
Currated CISMeF NLP mapping
- Acroosteolysis, keloid-like lesions, premature aging syndrome (disorder) [SNOMED CT concept]
- Acroosteolysis-keloid-like lesions-premature aging syndrome [ORDO Disease]
- Penttinen-Aula syndrome [MeSH concept]
- Penttinen-Aula syndrome [MeSH Supplementary Concept]
Genes related to phenotype
- Platelet-derived growth factor receptor, beta [OMIM gene]
HPO term(s)
- Abnormality of the skin [HPO term]
- Autosomal dominant inheritance [HPO term]
- Brachydactyly [HPO term]
- Delayed cranial suture closure [HPO term]
- Delayed eruption of teeth [HPO term]
- Delayed skeletal maturation [HPO term]
- Elevated circulating thyroid-stimulating hormone concentration [HPO term]
- Growth abnormality [HPO term]
- Hyperkeratosis [HPO term]
- Hypermetropia [HPO term]
- Hypoplasia of the maxilla [HPO term]
- Lipoatrophy [HPO term]
- Micrognathia [HPO term]
- Midface retrusion [HPO term]
- Narrow nose [HPO term]
- Osteolytic defects of the phalanges of the hand [HPO term]
- Osteopenia [HPO term]
- Prominent nasal bridge [HPO term]
- Proptosis [HPO term]
- Scoliosis [HPO term]
- Sensorineural hearing impairment [HPO term]
- Slender long bone [HPO term]
- Sparse hair [HPO term]
- Thin calvarium [HPO term]
- Thin vermilion border [HPO term]
- Wormian bones [HPO term]
ORDO concept(s)
- Acroosteolysis-keloid-like lesions-premature aging syndrome [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Acroosteolysis, keloid-like lesions, premature aging syndrome (disorder) [SNOMED CT concept]
- Acroosteolysis-keloid-like lesions-premature aging syndrome [ORDO Disease]
- Penttinen-Aula syndrome [MeSH Supplementary Concept]
- Penttinen-Aula syndrome [MeSH concept]

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

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