Leopard syndrome 3

Preferred Label : Leopard syndrome 3;

Symbol : LPRD3;

CISMeF acronym : LPRD3;

Type : Phenotype, molecular basis known;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the V-RAF murine sarcoma viral oncogene homolog B1 gene (BRAF, 164757.0024);

Prefixed ID : #613707;

Détails

Origin ID

613707;

UMLS CUI

C3150971;

Automatic exact mappings (from CISMeF team)
- Noonan syndrome with multiple lentigines 3 [DO Concept]
DO Cross reference
- Noonan syndrome with multiple lentigines 3 [DO Concept]
Genes related to phenotype
- B-raf protooncogene, serine/threonine kinase [OMIM gene]
HPO term(s)
- Abnormal aortic valve morphology [HPO term]
- Abnormal mitral valve morphology [HPO term]
- Autosomal dominant inheritance [HPO term]
- Cubitus valgus [HPO term]
- Curly hair [HPO term]
- Delayed skeletal maturation [HPO term]
- Depressed nasal bridge [HPO term]
- Dolichocephaly [HPO term]
- Downslanted palpebral fissures [HPO term]
- Dry skin [HPO term]
- Epidermal hyperkeratosis [HPO term]
- Few cafe-au-lait spots [HPO term]
- Growth delay [HPO term]
- Hyperkeratosis [HPO term]
- Hypertelorism [HPO term]
- Intellectual disability [HPO term]
- Low posterior hairline [HPO term]
- Low-set ears [HPO term]
- Macrocephaly [HPO term]
- Multiple lentigines [HPO term]
- Narrow forehead [HPO term]
- Neonatal hypotonia [HPO term]
- Neonatal onset [HPO term]
- Numerous nevi [HPO term]
- Palpebral thickening [HPO term]
- Posteriorly rotated ears [HPO term]
- Prominent forehead [HPO term]
- Seizure [HPO term]
- Sensorineural hearing impairment [HPO term]
- Shield chest [HPO term]
- Short neck [HPO term]
- Short stature [HPO term]
- Tetralogy of Fallot [HPO term]
- Webbed neck [HPO term]
- Wide intermamillary distance [HPO term]
ORDO concept(s)
- Noonan syndrome with multiple lentigines [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]

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

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