Leopard syndrome 2

Preferred Label : Leopard syndrome 2;

Symbol : LPRD2;

CISMeF acronym : LPRD2;

Type : Phenotype, molecular basis known;

Prefixed ID : #611554;

Details

Origin ID

611554;

UMLS CUI

C1969056;

Automatic exact mappings (from CISMeF team)
- LEOPARD syndrome, 2 [MeSH concept]
- LEOPARD syndrome, 2 [MeSH Supplementary Concept]
- Noonan syndrome with multiple lentigines 2 [DO Concept]
Broader ORDO disease(s)
- Noonan syndrome with multiple lentigines [ORDO Disease]
DO Cross reference
- Noonan syndrome with multiple lentigines 2 [DO Concept]
Genes related to phenotype
- Raf1 protooncogene, serine/threonine kinase [OMIM gene]
HPO term(s)
- Abnormal sternum morphology [HPO term]
- Autosomal dominant inheritance [HPO term]
- Cafe-au-lait spot [HPO term]
- Cubitus valgus [HPO term]
- Curly hair [HPO term]
- Depressed nasal bridge [HPO term]
- Dolichocephaly [HPO term]
- Downslanted palpebral fissures [HPO term]
- Dry skin [HPO term]
- Epicanthus [HPO term]
- Hypertelorism [HPO term]
- Hypertrophic cardiomyopathy [HPO term]
- Low-set ears [HPO term]
- Mandibular prognathia [HPO term]
- Multiple lentigines [HPO term]
- Short neck [HPO term]
- Short stature [HPO term]
- Thick lower lip vermilion [HPO term]
- Webbed neck [HPO term]
ORDO concept(s)
- Noonan syndrome with multiple lentigines [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- LEOPARD syndrome, 2 [MeSH Supplementary Concept]
- LEOPARD syndrome, 2 [MeSH concept]

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