Online Mendelian Inheritance in Man

Last uploaded: January 31, 2024
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Preferred Name

LAURENCE-MOON SYNDROME
Synonyms

LNMS
ID

http://purl.bioontology.org/ontology/OMIM/245800
altLabel

LNMS
cui

C0023138
Gene Locus

19p13.3
Gene Symbol

NTEMND

PNPLA6

OMCS

SPG39

BNHS

LNMS

NTE
Has manifestation

http://purl.bioontology.org/ontology/OMIM/MTHU011899

http://purl.bioontology.org/ontology/OMIM/MTHU000133

http://purl.bioontology.org/ontology/OMIM/MTHU000557

http://purl.bioontology.org/ontology/OMIM/MTHU011898

http://purl.bioontology.org/ontology/OMIM/MTHU036349

http://purl.bioontology.org/ontology/OMIM/MTHU000470

http://purl.bioontology.org/ontology/OMIM/MTHU000064

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

http://purl.bioontology.org/ontology/OMIM/MTHU000153

http://purl.bioontology.org/ontology/OMIM/MTHU000235

http://purl.bioontology.org/ontology/OMIM/MTHU011900
MIMTYPEMEANING

Phenotype description, molecular basis known.
notation

245800
OMIM Entry Type

3
OMIM MimType Value

pound
prefLabel

LAURENCE-MOON SYNDROME
Scope Statement

Caused by mutation in the patatin-like phospholipase domain-containing protein 6 gene (PNPLA6, 603197.0013) [MOLECULAR BASIS]

Variable phenotype [MISCELLANEOUS]

Mutation in PNPLA6 identified in 1 Laurence-Moon syndrome family (last curated March 2015) [MISCELLANEOUS]
tui

T047
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Delete Mapping To Ontology Source
http://purl.bioontology.org/ontology/SCTSPA/5619004 SCTSPA CUI
http://purl.bioontology.org/ontology/MDRFRE/10056710 MDRFRE CUI
http://purl.bioontology.org/ontology/MESH/D007849 MESH CUI
http://purl.bioontology.org/ontology/CSP/1840-2225 CRISP CUI
http://purl.bioontology.org/ontology/SNMI/D4-01205 SNMI CUI
http://purl.bioontology.org/ontology/SCTSPA/232059000 SCTSPA CUI
http://purl.bioontology.org/ontology/MDRGER/10056710 MDRGER CUI
http://purl.bioontology.org/ontology/MSHFRE/D007849 MSHFRE CUI
http://purl.bioontology.org/ontology/RCD/X00e1 RCD CUI
http://purl.bioontology.org/ontology/SNOMEDCT/5619004 SNOMEDCT CUI
http://purl.bioontology.org/ontology/ICD10CM/Q87.84 ICD10CM CUI
http://purl.bioontology.org/ontology/SNOMEDCT/232059000 SNOMEDCT CUI
http://purl.bioontology.org/ontology/CSP/1254-7727 CRISP CUI
http://purl.bioontology.org/ontology/MEDDRA/10056710 MEDDRA CUI
http://purl.bioontology.org/ontology/NDFRT/N0000001790 NDFRT CUI
http://purl.bioontology.org/ontology/RCD/PKy1. RCD CUI
http://purl.obolibrary.org/obo/MONDO_0009514 EFO LOOM
http://purl.obolibrary.org/obo/DOID_1930 DOID LOOM
http://purl.obolibrary.org/obo/MONDO_0009514 MONDO LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C16.131.077.509 RH-MESH LOOM
http://www.limics.org/hrdo/rdfns#pat_id_531 HRDO LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C10.228.140.617.500 RH-MESH LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#D007849 RH-MESH LOOM
http://purl.bioontology.org/ontology/MESH/D007849 MESH LOOM
http://www.orpha.net/ORDO/Orphanet_2377 ORDO LOOM
http://purl.obolibrary.org/obo/DOID_1930 BAO LOOM
http://purl.obolibrary.org/obo/DOID_1930 HHEAR LOOM
http://purl.obolibrary.org/obo/DOID_1930 NIFSTD LOOM
http://purl.obolibrary.org/obo/DOID_1930 FNS-H LOOM
http://www.phoc.org.cn/pmo/class/PMO_00038267 PMAPP-PMO LOOM
http://sbmi.uth.tmc.edu/ontology/ochv#C0023138 OCHV LOOM
http://www.semanticweb.org/hamide/ontologies/2019/3/IRD_6_4_22 HAMIDEHSGH LOOM
http://purl.obolibrary.org/obo/NCIT_C34760 BERO LOOM
http://purl.obolibrary.org/obo/OMIT_0008946 OMIT LOOM
http://sbmi.uth.tmc.edu/ontology/ochv#7250 OCHV LOOM
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C34760 NCIT LOOM
http://purl.obolibrary.org/obo/MONDO_0009514 DOVES LOOM
http://www.owl-ontologies.com/NPOntology.owl#DOID_1930 NATPRO LOOM
http://purl.bioontology.org/ontology/RCD/X00e1 RCD LOOM
http://purl.bioontology.org/ontology/ICD10CM/Q87.84 ICD10CM LOOM
http://purl.bioontology.org/ontology/SNOMEDCT/232059000 SNOMEDCT LOOM
http://purl.bioontology.org/ontology/MEDDRA/10056710 MEDDRA LOOM
http://id.nlm.nih.gov/mesh/D007849 MDM LOOM
http://purl.jp/bio/4/id/200906051501978183 IOBC LOOM
http://www.gamuts.net/entity#Laurence_Moon_syndrome GAMUTS LOOM