LEOPARD SYNDROME 1

LPRD1

http://purl.bioontology.org/ontology/OMIM/151100

LPRD1

MULTIPLE LENTIGINES SYNDROME

LENTIGINOSIS, CARDIOMYOPATHIC

C4551484

C0175704

12q24.1

NS1

PTPN11

JMML

SHP2

METCDS

PTP2C

http://purl.bioontology.org/ontology/OMIM/MTHU013313

http://purl.bioontology.org/ontology/OMIM/MTHU000511

http://purl.bioontology.org/ontology/OMIM/MTHU000231

http://purl.bioontology.org/ontology/OMIM/MTHU000229

http://purl.bioontology.org/ontology/OMIM/MTHU000258

http://purl.bioontology.org/ontology/OMIM/MTHU007611

http://purl.bioontology.org/ontology/OMIM/MTHU000191

http://purl.bioontology.org/ontology/OMIM/MTHU000263

http://purl.bioontology.org/ontology/OMIM/MTHU036568

http://purl.bioontology.org/ontology/OMIM/MTHU017445

http://purl.bioontology.org/ontology/OMIM/MTHU017453

http://purl.bioontology.org/ontology/OMIM/MTHU036551

http://purl.bioontology.org/ontology/OMIM/MTHU006725

http://purl.bioontology.org/ontology/OMIM/MTHU017459

http://purl.bioontology.org/ontology/OMIM/MTHU017451

http://purl.bioontology.org/ontology/OMIM/MTHU065167

http://purl.bioontology.org/ontology/OMIM/MTHU000514

http://purl.bioontology.org/ontology/OMIM/MTHU036357

http://purl.bioontology.org/ontology/OMIM/MTHU007916

http://purl.bioontology.org/ontology/OMIM/MTHU065166

http://purl.bioontology.org/ontology/OMIM/MTHU001106

http://purl.bioontology.org/ontology/OMIM/MTHU000389

http://purl.bioontology.org/ontology/OMIM/MTHU036365

http://purl.bioontology.org/ontology/OMIM/MTHU036721

http://purl.bioontology.org/ontology/OMIM/MTHU017447

http://purl.bioontology.org/ontology/OMIM/MTHU002160

http://purl.bioontology.org/ontology/OMIM/MTHU000577

http://purl.bioontology.org/ontology/OMIM/MTHU007202

http://purl.bioontology.org/ontology/OMIM/MTHU036908

http://purl.bioontology.org/ontology/OMIM/MTHU001440

http://purl.bioontology.org/ontology/OMIM/MTHU036522

http://purl.bioontology.org/ontology/OMIM/MTHU012071

http://purl.bioontology.org/ontology/OMIM/MTHU017462

http://purl.bioontology.org/ontology/OMIM/MTHU036841

http://purl.bioontology.org/ontology/OMIM/MTHU000509

http://purl.bioontology.org/ontology/OMIM/MTHU036382

http://purl.bioontology.org/ontology/OMIM/MTHU000166

http://purl.bioontology.org/ontology/OMIM/MTHU017448

http://purl.bioontology.org/ontology/OMIM/MTHU017449

http://purl.bioontology.org/ontology/OMIM/MTHU000145

http://purl.bioontology.org/ontology/OMIM/MTHU017461

http://purl.bioontology.org/ontology/OMIM/MTHU001056

http://purl.bioontology.org/ontology/OMIM/MTHU017450

http://purl.bioontology.org/ontology/OMIM/MTHU000094

Phenotype description, molecular basis known.

151100

3

pound

LEOPARD SYNDROME 1

Lentigines may be congenital or develop in first months to years of life [MISCELLANEOUS]

LEOPARD is an acronym: lentigines, EKG abnormalities, ocular hypertelorism, obstructive cardiomyopathy, pulmonic stenosis, abnormalities of genitalia, retardation of growth, and deafness [MISCELLANEOUS]

Lentigines may be absent [MISCELLANEOUS]

Caused by mutation in the protein-tyrosine phosphatase, nonreceptor-type, 11 (PTPN11, 176876.0005) [MOLECULAR BASIS]

T047