FNS-Harmony

Last uploaded: November 2, 2023
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Preferred Name

Laurence-Moon syndrome
Synonyms
Definitions

A syndrome characterized by pituitary dysfunction, childhood onset ataxia, peripheral neuropathy, spastic paraplegia, and chorioretinopathy that has_material_basis_in homozygous or compound heterozygous mutation in PNPLA6 on chromosome 19p13.2.
ID

http://purl.obolibrary.org/obo/DOID_1930
definition

A syndrome characterized by pituitary dysfunction, childhood onset ataxia, peripheral neuropathy, spastic paraplegia, and chorioretinopathy that has_material_basis_in homozygous or compound heterozygous mutation in PNPLA6 on chromosome 19p13.2.
imported from

http://purl.obolibrary.org/obo/doid.owl
label

Laurence-Moon syndrome
prefixIRI

DOID:1930
prefLabel

Laurence-Moon syndrome
subClassOf

http://purl.obolibrary.org/obo/DOID_0050737

http://purl.obolibrary.org/obo/DOID_225
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http://purl.obolibrary.org/obo/DOID_1930 DOID SAME_URI
http://purl.obolibrary.org/obo/DOID_1930 BAO SAME_URI
http://purl.obolibrary.org/obo/DOID_1930 HHEAR SAME_URI
http://purl.obolibrary.org/obo/DOID_1930 DDSS SAME_URI
http://purl.obolibrary.org/obo/DOID_1930 NIFSTD SAME_URI
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 DOID 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 DDSS LOOM
http://purl.obolibrary.org/obo/DOID_1930 NIFSTD 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 CCONT LOOM
http://purl.obolibrary.org/obo/MONDO_0009514 EFO LOOM
http://purl.obolibrary.org/obo/MONDO_0009514 MONDO LOOM
http://purl.obolibrary.org/obo/MONDO_0009514 EFO 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
rgo:19288 GAMUTS 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://purl.bioontology.org/ontology/OMIM/245800 OMIM LOOM