Leopard syndrome 1

Preferred Label : Leopard syndrome 1;

Symbol : LPRD1;

CISMeF acronym : LPRD1;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Multiple lentigines syndrome; Lentiginosis, cardiomyopathic;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the protein-tyrosine phosphatase, nonreceptor-type, 11 (PTPN11, 176876.0005);

Prefixed ID : #151100;

Détails

Origin ID

151100;

UMLS CUI

C4551484;

Automatic exact mappings (from CISMeF team)
- Noonan syndrome with multiple lentigines 1 [DO Concept]
Broader ORDO disease(s)
- Noonan syndrome with multiple lentigines [ORDO Disease]
Currated CISMeF NLP mapping
- LEOPARD Syndrome [NCIt concept]
- LEOPARD syndrome [PASCAL descriptor]
- LEOPARD syndrome [ICD-11 More detail]
- LEOPARD syndrome [MedDRA LLT]
- LEOPARD syndrome [MeSH Descriptor]
- LEOPARD syndrome [MeSH concept]
- Multiple lentigines syndrome [MedDRA Preferred Term]
- Multiple lentigines syndrome (disorder) [SNOMED CT concept]
- Noonan syndrome with multiple lentigines [DO Concept]
- Noonan syndrome with multiple lentigines [ORDO Disease]
- leopard syndrome [Disease (Nov.)]
- multiple lentigines syndrome [SNOMED Notion]
DO Cross reference
- Noonan syndrome with multiple lentigines 1 [DO Concept]
Genes related to phenotype
- Protein-tyrosine phosphatase, nonreceptor-type, 11 [OMIM gene]
HPO term(s)
- Abnormality of cardiac conduction [HPO term]
- Aplasia of the ovary [HPO term]
- Autosomal dominant inheritance [HPO term]
- Bundle branch block [HPO term]
- Cafe-au-lait spot [HPO term]
- Cleft palate [HPO term]
- Cryptorchidism [HPO term]
- Cubitus valgus [HPO term]
- Deafness [HPO term]
- Delayed menarche [HPO term]
- Delayed puberty [HPO term]
- Depressed nasal ridge [HPO term]
- Epicanthus [HPO term]
- Hypertelorism [HPO term]
- Hypertrophic cardiomyopathy [HPO term]
- Hypoplasia of the ovary [HPO term]
- Hyposmia [HPO term]
- Hypospadias [HPO term]
- Intellectual disability, mild [HPO term]
- Kyphoscoliosis [HPO term]
- Limited elbow movement [HPO term]
- Low-set ears [HPO term]
- Mandibular prognathia [HPO term]
- Micropenis [HPO term]
- Missing ribs [HPO term]
- Multiple lentigines [HPO term]
- Parietal bossing [HPO term]
- Pectus carinatum [HPO term]
- Pectus excavatum [HPO term]
- Posteriorly rotated ears [HPO term]
- Prominent ears [HPO term]
- Protruding ear [HPO term]
- Ptosis [HPO term]
- Pulmonic stenosis [HPO term]
- Scapular winging [HPO term]
- Sensorineural hearing impairment [HPO term]
- Short neck [HPO term]
- Short stature [HPO term]
- Spina bifida occulta [HPO term]
- Strabismus [HPO term]
- Subvalvular aortic stenosis [HPO term]
- Third degree atrioventricular block [HPO term]
- Triangular face [HPO term]
- Unilateral renal agenesis [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 [NCIt concept]
- LEOPARD syndrome [MedDRA LLT]
- LEOPARD syndrome [MeSH Descriptor]
- LEOPARD syndrome [MeSH concept]
- LEOPARD syndrome [PASCAL descriptor]
- Multiple lentigines syndrome [MedDRA Preferred Term]
- Multiple lentigines syndrome (disorder) [SNOMED CT concept]
- Noonan syndrome with multiple lentigines [ORDO Disease]
- Noonan syndrome with multiple lentigines [DO Concept]
- leopard syndrome [Disease (Nov.)]
- multiple lentigines syndrome [SNOMED Notion]
Validated automatic mappings to NTBT
- leopard syndrome [Disease (Nov.)]

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