Kosaki overgrowth syndrome

Preferred Label : Kosaki overgrowth syndrome;

Symbol : KOGS;

CISMeF acronym : KOGS;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Skeletal overgrowth with facial dysmorphism, hyperelastic skin, white matter lesions, and neurologic deterioration;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the platelet-derived growth factor receptor, beta polypeptide gene (PDGFRB, 173410.0005);

Prefixed ID : #616592;

Details

Origin ID

616592;

UMLS CUI

C4225270;

Automatic exact mappings (from CISMeF team)
- Kosaki overgrowth syndrome [ORDO Disease]
Currated CISMeF NLP mapping
- Kosaki overgrowth syndrome [MedDRA Preferred Term]
- Kosaki overgrowth syndrome (disorder) [SNOMED CT concept]
Genes related to phenotype
- Platelet-derived growth factor receptor, beta [OMIM gene]
HPO term(s)
- Anxiety [HPO term]
- Autosomal dominant inheritance [HPO term]
- Depression [HPO term]
- Downslanted palpebral fissures [HPO term]
- Fragile skin [HPO term]
- Hyperextensible skin [HPO term]
- Long foot [HPO term]
- Overgrowth [HPO term]
- Pointed chin [HPO term]
- Progressive neurologic deterioration [HPO term]
- Prominent forehead [HPO term]
- Prominent supraorbital ridges [HPO term]
- Proptosis [HPO term]
- Ptosis [HPO term]
- Tall stature [HPO term]
- Thin skin [HPO term]
- Thin upper lip vermilion [HPO term]
- Thoracolumbar scoliosis [HPO term]
- Wide nasal bridge [HPO term]
ORDO concept(s)
- Kosaki overgrowth syndrome [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Kosaki overgrowth syndrome [MedDRA Preferred Term]
- Kosaki overgrowth syndrome (disorder) [SNOMED CT concept]

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