Medical Subject Headings

Last uploaded: April 29, 2019
Preferred Name

LEOPARD Syndrome

Synonyms

Cardiomyopathic Lentiginosis

Definitions

An autosomal dominant disorder with an acronym of its seven features (LENTIGO; ELECTROCARDIOGRAM abnormalities; ocular HYPERTELORISM; PULMONARY STENOSIS; abnormal genitalia; retardation of growth; and DEAFNESS or SENSORINEURAL HEARING LOSS). This syndrome is caused by mutations of PTPN11 gene encoding the non-receptor PROTEIN TYROSINE PHOSPHATASE, type 11, and is an allelic to NOONAN SYNDROME. Features of LEOPARD syndrome overlap with those of NEUROFIBROMATOSIS 1 which is caused by mutations in the NEUROFIBROMATOSIS 1 GENES.

ID

http://purl.bioontology.org/ontology/MESH/D044542

altLabel

Cardiomyopathic Lentiginosis

Cardiomyopathic, Lentiginosis

Lentiginosis, Cardiomyopathic

Cardiomyopathic Lentiginoses, Progressive

Cardio Cutaneous Syndrome

Lentiginosis Cardiomyopathic

Progressive Cardiomyopathic Lentiginoses

Syndromes, Cardio-Cutaneous

LEOPARD Syndrome, 1

Lentigines Syndrome, Multiple

Lentiginoses, Cardiomyopathic

Leopard Syndrome 1

Noonan Syndrome with Multiple Lentigines

Leopard Syndrome 1s

Multiple Lentigines Syndrome

Cardiomyopathics, Lentiginosis

Cardiomyopathic Lentiginosis, Progressive

Syndrome, Multiple Lentigines

Syndromes, LEOPARD

LEOPARD Syndromes, 1

Lentigines Syndromes, Multiple

Multiple Lentigines Syndromes

Cardio-Cutaneous Syndrome

Lentiginosis, Progressive Cardiomyopathic

Lentiginoses, Progressive Cardiomyopathic

Progressive Cardiomyopathic Lentiginosis

Lentiginosis Cardiomyopathics

Cardiomyopathic Lentiginoses

Syndrome, LEOPARD

Syndromes, Multiple Lentigines

Syndromes, 1 LEOPARD

Cardio-Cutaneous Syndromes

LEOPARD Syndromes

Syndrome, Cardio-Cutaneous

AQL

BL CF CI CL CO DG DH DI DT EC EH EM EN EP ET GE HI IM ME MI MO NU PA PC PP PS PX RH RT SU TH UR VE VI

cui

C4551484

C0175704

DC

1

definition

An autosomal dominant disorder with an acronym of its seven features (LENTIGO; ELECTROCARDIOGRAM abnormalities; ocular HYPERTELORISM; PULMONARY STENOSIS; abnormal genitalia; retardation of growth; and DEAFNESS or SENSORINEURAL HEARING LOSS). This syndrome is caused by mutations of PTPN11 gene encoding the non-receptor PROTEIN TYROSINE PHOSPHATASE, type 11, and is an allelic to NOONAN SYNDROME. Features of LEOPARD syndrome overlap with those of NEUROFIBROMATOSIS 1 which is caused by mutations in the NEUROFIBROMATOSIS 1 GENES.

DX

20040101

FX

D009634

D009456

HN

2004; use NEUROFIBROMATOSIS 1 2002 -2003

Inverse of AQ

http://purl.bioontology.org/ontology/MESH/Q000401

http://purl.bioontology.org/ontology/MESH/Q000150

http://purl.bioontology.org/ontology/MESH/Q000188

http://purl.bioontology.org/ontology/MESH/Q000517

http://purl.bioontology.org/ontology/MESH/Q000201

http://purl.bioontology.org/ontology/MESH/Q000145

http://purl.bioontology.org/ontology/MESH/Q000503

http://purl.bioontology.org/ontology/MESH/Q000453

http://purl.bioontology.org/ontology/MESH/Q000208

http://purl.bioontology.org/ontology/MESH/Q000134

http://purl.bioontology.org/ontology/MESH/Q000821

http://purl.bioontology.org/ontology/MESH/Q000382

http://purl.bioontology.org/ontology/MESH/Q000601

http://purl.bioontology.org/ontology/MESH/Q000235

http://purl.bioontology.org/ontology/MESH/Q000523

http://purl.bioontology.org/ontology/MESH/Q000276

http://purl.bioontology.org/ontology/MESH/Q000191

http://purl.bioontology.org/ontology/MESH/Q000652

http://purl.bioontology.org/ontology/MESH/Q000662

http://purl.bioontology.org/ontology/MESH/Q000628

http://purl.bioontology.org/ontology/MESH/Q000196

http://purl.bioontology.org/ontology/MESH/Q000534

http://purl.bioontology.org/ontology/MESH/Q000266

http://purl.bioontology.org/ontology/MESH/Q000532

http://purl.bioontology.org/ontology/MESH/Q000139

http://purl.bioontology.org/ontology/MESH/Q000378

http://purl.bioontology.org/ontology/MESH/Q000175

http://purl.bioontology.org/ontology/MESH/Q000000981

http://purl.bioontology.org/ontology/MESH/Q000097

http://purl.bioontology.org/ontology/MESH/Q000473

http://purl.bioontology.org/ontology/MESH/Q000451

http://purl.bioontology.org/ontology/MESH/Q000209

http://purl.bioontology.org/ontology/MESH/Q000178

http://purl.bioontology.org/ontology/MESH/Q000469

Inverse of RO

http://purl.bioontology.org/ontology/MESH/D009634

http://purl.bioontology.org/ontology/MESH/D009456

Inverse of SIB

http://purl.bioontology.org/ontology/MESH/D001816

http://purl.bioontology.org/ontology/MESH/D010985

http://purl.bioontology.org/ontology/MESH/D003420

http://purl.bioontology.org/ontology/MESH/D056889

http://purl.bioontology.org/ontology/MESH/D056732

http://purl.bioontology.org/ontology/MESH/D003310

http://purl.bioontology.org/ontology/MESH/D011662

http://purl.bioontology.org/ontology/MESH/D000073839

http://purl.bioontology.org/ontology/MESH/D016878

http://purl.bioontology.org/ontology/MESH/D009958

http://purl.bioontology.org/ontology/MESH/D001017

http://purl.bioontology.org/ontology/MESH/D008133

http://purl.bioontology.org/ontology/MESH/D058165

http://purl.bioontology.org/ontology/MESH/D056733

http://purl.bioontology.org/ontology/MESH/D058497

http://purl.bioontology.org/ontology/MESH/D059446

http://purl.bioontology.org/ontology/MESH/D000072661

http://purl.bioontology.org/ontology/MESH/D004476

http://purl.bioontology.org/ontology/MESH/D056846

http://purl.bioontology.org/ontology/MESH/D004314

http://purl.bioontology.org/ontology/MESH/D058495

http://purl.bioontology.org/ontology/MESH/D019082

http://purl.bioontology.org/ontology/MESH/D016738

http://purl.bioontology.org/ontology/MESH/D019767

http://purl.bioontology.org/ontology/MESH/D017204

http://purl.bioontology.org/ontology/MESH/D009261

http://purl.bioontology.org/ontology/MESH/D016715

http://purl.bioontology.org/ontology/MESH/D014188

http://purl.bioontology.org/ontology/MESH/D004541

http://purl.bioontology.org/ontology/MESH/D014286

http://purl.bioontology.org/ontology/MESH/D009634

http://purl.bioontology.org/ontology/MESH/D009800

http://purl.bioontology.org/ontology/MESH/D019571

http://purl.bioontology.org/ontology/MESH/D019280

http://purl.bioontology.org/ontology/MESH/D056685

http://purl.bioontology.org/ontology/MESH/D007849

http://purl.bioontology.org/ontology/MESH/D012779

http://purl.bioontology.org/ontology/MESH/D056770

http://purl.bioontology.org/ontology/MESH/D056731

http://purl.bioontology.org/ontology/MESH/D054975

http://purl.bioontology.org/ontology/MESH/D059041

http://purl.bioontology.org/ontology/MESH/D014424

http://purl.bioontology.org/ontology/MESH/D020331

http://purl.bioontology.org/ontology/MESH/D007979

http://purl.bioontology.org/ontology/MESH/D056730

http://purl.bioontology.org/ontology/MESH/D058747

http://purl.bioontology.org/ontology/MESH/D015211

http://purl.bioontology.org/ontology/MESH/D058502

http://purl.bioontology.org/ontology/MESH/D003398

http://purl.bioontology.org/ontology/MESH/D058496

http://purl.bioontology.org/ontology/MESH/D007690

http://purl.bioontology.org/ontology/MESH/D054083

http://purl.bioontology.org/ontology/MESH/D003057

http://purl.bioontology.org/ontology/MESH/D008831

http://purl.bioontology.org/ontology/MESH/D056830

http://purl.bioontology.org/ontology/MESH/D013771

http://purl.bioontology.org/ontology/MESH/D000073842

http://purl.bioontology.org/ontology/MESH/D001506

http://purl.bioontology.org/ontology/MESH/D018636

http://purl.bioontology.org/ontology/MESH/D001478

http://purl.bioontology.org/ontology/MESH/D006343

http://purl.bioontology.org/ontology/MESH/D003330

http://purl.bioontology.org/ontology/MESH/D002973

http://purl.bioontology.org/ontology/MESH/D005736

http://purl.bioontology.org/ontology/MESH/D014927

http://purl.bioontology.org/ontology/MESH/D016142

http://purl.bioontology.org/ontology/MESH/D007184

http://purl.bioontology.org/ontology/MESH/D004374

http://purl.bioontology.org/ontology/MESH/D014849

http://purl.bioontology.org/ontology/MESH/D054062

http://purl.bioontology.org/ontology/MESH/D003635

http://purl.bioontology.org/ontology/MESH/D054463

http://purl.bioontology.org/ontology/MESH/D011218

http://purl.bioontology.org/ontology/MESH/D003914

http://purl.bioontology.org/ontology/MESH/D055947

http://purl.bioontology.org/ontology/MESH/D054877

http://purl.bioontology.org/ontology/MESH/D058627

http://purl.bioontology.org/ontology/MESH/D011535

http://purl.bioontology.org/ontology/MESH/D056734

http://purl.bioontology.org/ontology/MESH/D018785

http://purl.bioontology.org/ontology/MESH/D003394

http://purl.bioontology.org/ontology/MESH/D010580

http://purl.bioontology.org/ontology/MESH/D054000

http://purl.bioontology.org/ontology/MESH/D004437

http://purl.bioontology.org/ontology/MESH/D012410

http://purl.bioontology.org/ontology/MESH/D003410

http://purl.bioontology.org/ontology/MESH/D012415

http://purl.bioontology.org/ontology/MESH/D008382

Machine permutation

2004; see NEUROFIBROMATOSIS 1 2002 -2003

Mapped from

http://purl.bioontology.org/ontology/MESH/C537117

MDA

20030709

MMR

20160701

MN

C14.280.484.716.525

C16.131.240.400.685

C14.280.400.695

C05.660.207.525

C16.131.621.207.525

C16.131.077.525

C14.240.400.695

C17.800.621.430.530.550.525

notation

D044542

prefLabel

LEOPARD Syndrome

TERMUI

T842087

T834016

T842086

T812080

T431506

T532190

T842084

T834015

T825009

TH

NLM (2004)

NLM (2002)

ORD (2010)

OMIM (2013)

GHR (2014)

tui

T047

subClassOf

http://purl.bioontology.org/ontology/MESH/D019465

http://purl.bioontology.org/ontology/MESH/D006330

http://purl.bioontology.org/ontology/MESH/D011666

http://purl.bioontology.org/ontology/MESH/D000015

http://purl.bioontology.org/ontology/MESH/D007911

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http://purl.bioontology.org/ontology/SNMI/D4-01048 SNMI CUI
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C16.131.621.207.525 RH-MESH LOOM
http://purl.obolibrary.org/obo/DOID_14291 BAO LOOM
http://purl.obolibrary.org/obo/DOID_14291 DTO LOOM
http://purl.obolibrary.org/obo/DOID_14291 CLO LOOM
http://purl.obolibrary.org/obo/DOID_14291 BAO LOOM
http://purl.obolibrary.org/obo/DOID_14291 DOID LOOM
http://purl.obolibrary.org/obo/DOID_14291 NIFSTD LOOM
http://purl.bioontology.org/ontology/CSP/1254-7727 CRISP CUI
http://www.orpha.net/ORDO/Orphanet_500 EFO LOOM
http://www.orpha.net/ORDO/Orphanet_500 CCONT LOOM
http://www.orpha.net/ORDO/Orphanet_500 EFO LOOM
http://www.orpha.net/ORDO/Orphanet_500 EFO LOOM
http://www.orpha.net/ORDO/Orphanet_500 EFO LOOM
http://www.orpha.net/ORDO/Orphanet_500 EFO LOOM
http://purl.bioontology.org/ontology/RCD/X50Js RCD CUI
http://purl.bioontology.org/ontology/MEDDRA/10062901 MEDDRA CUI
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C14.280.484.716.525 RH-MESH LOOM
http://purl.jp/bio/4/id/200906037830471992 IOBC LOOM
http://purl.jp/bio/4/id/200906037830471992 IOBC LOOM
http://purl.jp/bio/4/id/200906037830471992 IOBC LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#D044542 RH-MESH LOOM
http://purl.bioontology.org/ontology/OMIM/176876 OMIM CUI
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C16.131.077.525 RH-MESH LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C14.280.400.695 RH-MESH LOOM
http://purl.bioontology.org/ontology/NDFRT/N0000010971 NDFRT CUI
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C14.240.400.695 RH-MESH LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C16.131.240.400.685 RH-MESH LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C17.800.621.430.530.550.525 RH-MESH LOOM
http://purl.bioontology.org/ontology/MEDDRA/10057210 MEDDRA CUI
http://purl.bioontology.org/ontology/MEDDRA/10057210 MEDDRA LOOM
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C84820 NCIT LOOM
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C84820 NCIT LOOM
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C84820 NCIT LOOM
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C84820 NCIT LOOM
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C84820 NCIT LOOM
http://purl.bioontology.org/ontology/RCTV2/M292200 RCTV2 LOOM
http://purl.bioontology.org/ontology/OMIM/151100 OMIM CUI
http://purl.bioontology.org/ontology/OMIM/151100 OMIM CUI
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C05.660.207.525 RH-MESH LOOM
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#LEOPARD_Syndrome CSEO LOOM
http://www.limics.org/hrdo/rdfns#pat_id_1032 HRDO LOOM
http://purl.bioontology.org/ontology/CSP/0944-7801 CRISP CUI
http://purl.obolibrary.org/obo/DERMO_0000678 DERMO LOOM
http://purl.bioontology.org/ontology/CSP/2328-1390 CRISP CUI
http://www.owl-ontologies.com/NPOntology.owl#DOID_14291 NATPRO LOOM
http://purl.bioontology.org/ontology/CSP/0723-1051 CRISP CUI
http://purl.bioontology.org/ontology/SNOMEDCT/111306001 SNOMEDCT CUI