Online Mendelian Inheritance in Man

Last uploaded: January 29, 2019
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Preferred Name

LEOPARD SYNDROME 1
Synonyms

LENTIGINOSIS, CARDIOMYOPATHIC
ID

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

LENTIGINOSIS, CARDIOMYOPATHIC

LPRD1

MULTIPLE LENTIGINES SYNDROME
cui

C0175704
Gene Locus

12q24.1
Gene Symbol

PTPN11

JMML

METCDS

PTP2C

NS1

SHP2
Has manifestation

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

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

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

http://purl.bioontology.org/ontology/OMIM/MTHU017446

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

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

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

http://purl.bioontology.org/ontology/OMIM/MTHU017454

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

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

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

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

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

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

http://purl.bioontology.org/ontology/OMIM/MTHU017464

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

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

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

http://purl.bioontology.org/ontology/OMIM/MTHU017456

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

http://purl.bioontology.org/ontology/OMIM/MTHU017460

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

http://purl.bioontology.org/ontology/OMIM/MTHU027186

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

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

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

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

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

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

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

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

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

http://purl.bioontology.org/ontology/OMIM/MTHU017458

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

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

http://purl.bioontology.org/ontology/OMIM/MTHU017457

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

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

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

http://purl.bioontology.org/ontology/OMIM/MTHU017455

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

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

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

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

http://purl.bioontology.org/ontology/OMIM/MTHU027185

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

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

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

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

Phenotype description, molecular basis known.
notation

151100
OMIM Entry Type

3
OMIM MimType Value

pound
prefLabel

LEOPARD SYNDROME 1
tui

T047
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http://purl.bioontology.org/ontology/MESH/D044542 Medical Subject Headings CUI