Online Mendelian Inheritance in Man

Last uploaded: August 28, 2024
Preferred Name

LEOPARD SYNDROME 1
Synonyms

LPRD1

MULTIPLE LENTIGINES SYNDROME

LENTIGINOSIS, CARDIOMYOPATHIC

ID

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

altLabel

LPRD1

MULTIPLE LENTIGINES SYNDROME

LENTIGINOSIS, CARDIOMYOPATHIC

cui

C4551484

C0175704

Gene Locus

12q24.1

Gene Symbol

NS1

PTPN11

JMML

SHP2

METCDS

PTP2C

Has manifestation

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

MIMTYPEMEANING

Phenotype description, molecular basis known.

notation

151100

OMIM Entry Type

3

OMIM MimType Value

pound

prefLabel

LEOPARD SYNDROME 1

Scope Statement

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]

tui

T047

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Create mapping

Delete Mapping To Ontology Source
http://purl.bioontology.org/ontology/MESH/D044542 MESH CUI
http://purl.bioontology.org/ontology/RCD/X50Js RCD CUI
http://purl.bioontology.org/ontology/SCTSPA/111306001 SCTSPA CUI
http://purl.bioontology.org/ontology/MEDDRA/10062901 MEDDRA CUI
http://purl.bioontology.org/ontology/MDRFRE/10057210 MDRFRE CUI
http://purl.bioontology.org/ontology/MDRFRE/10062901 MDRFRE CUI
http://purl.bioontology.org/ontology/MDRGER/10062901 MDRGER CUI
http://purl.bioontology.org/ontology/MEDDRA/10057210 MEDDRA CUI
http://purl.bioontology.org/ontology/CSP/0944-7801 CRISP CUI
http://purl.bioontology.org/ontology/CSP/0723-1051 CRISP CUI
http://purl.bioontology.org/ontology/SNOMEDCT/111306001 SNOMEDCT CUI
http://purl.bioontology.org/ontology/NDFRT/N0000010971 NDFRT CUI
http://purl.bioontology.org/ontology/SNMI/D4-01048 SNMI CUI
http://purl.bioontology.org/ontology/CSP/2328-1390 CRISP CUI
http://purl.bioontology.org/ontology/CSP/1254-7727 CRISP CUI
http://purl.bioontology.org/ontology/MSHFRE/D044542 MSHFRE CUI
http://purl.bioontology.org/ontology/MDRGER/10057210 MDRGER CUI
http://purl.bioontology.org/ontology/MESH/D044542 MESH CUI
http://purl.obolibrary.org/obo/OMIM_151100 CCO LOOM
http://identifiers.org/omim/151100 REXO LOOM
http://identifiers.org/omim/151100 GEXO LOOM
http://identifiers.org/omim/151100 RETO LOOM
http://purl.obolibrary.org/obo/MONDO_0100082 MONDO LOOM
http://purl.obolibrary.org/obo/MONDO_0100082 DOVES LOOM
http://id.nlm.nih.gov/mesh/D044542 MDM LOOM