Human Health Exposure Analysis Resource

Last uploaded: July 19, 2024
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Preferred Name

Prader-Willi syndrome
Synonyms

Prader Willi syndrome
Definitions

A chromosomal disease that is characterized by weak muscle tone, feeding difficulties, poor growth, and delayed development. Beginning in childhood, affected individuals develop an insatiable appetite, which leads to chronic overeating and obesity. OMIM mapping confirmed by DO. [SN].
ID

http://purl.obolibrary.org/obo/DOID_11983
comment

OMIM mapping confirmed by DO. [SN].
alternative label

Prader Willi syndrome
database_cross_reference

ICD10CM:Q87.11

SNOMEDCT_US_2023_03_01:205794007

UMLS_CUI:C0032897

MESH:D011218

ICD9CM:759.81

GARD:5575

MIM:176270

NCI:C75463

ORDO:739
definition

A chromosomal disease that is characterized by weak muscle tone, feeding difficulties, poor growth, and delayed development. Beginning in childhood, affected individuals develop an insatiable appetite, which leads to chronic overeating and obesity.

OMIM mapping confirmed by DO. [SN].
disease has basis in

http://purl.obolibrary.org/obo/SYMP_0000462
has exact synonym

Prader Willi syndrome
has_obo_namespace

disease_ontology
id

DOID:11983
in_subset

http://purl.obolibrary.org/obo/doid#NCIthesaurus

http://purl.obolibrary.org/obo/doid#DO_rare_slim
label

Prader-Willi syndrome
notation

DOID:11983
note

A chromosomal disease that is characterized by weak muscle tone, feeding difficulties, poor growth, and delayed development. Beginning in childhood, affected individuals develop an insatiable appetite, which leads to chronic overeating and obesity.

OMIM mapping confirmed by DO. [SN].
preferred label

Prader-Willi syndrome
prefLabel

Prader-Willi syndrome
subClassOf

http://purl.obolibrary.org/obo/DOID_0080014

http://purl.obolibrary.org/obo/DOID_225
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Delete Mapping To Ontology Source
http://purl.obolibrary.org/obo/DOID_11983 CLO SAME_URI
http://purl.obolibrary.org/obo/DOID_11983 DTO SAME_URI
http://purl.obolibrary.org/obo/DOID_11983 DOID SAME_URI
http://purl.obolibrary.org/obo/DOID_11983 BAO SAME_URI
http://purl.obolibrary.org/obo/DOID_11983 NIFSTD SAME_URI
http://purl.obolibrary.org/obo/DOID_11983 FNS-H SAME_URI
http://purl.obolibrary.org/obo/MESH_D011218 BERO LOOM
http://purl.bioontology.org/ontology/SNOMEDCT/89392001 SNOMEDCT LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C16.131.260.700 RH-MESH LOOM
http://purl.bioontology.org/ontology/SNMI/D4-00615 SNMI LOOM
http://purl.bioontology.org/ontology/OMIM/176270 OMIM LOOM
http://sbmi.uth.tmc.edu/ontology/ochv#10026 OCHV LOOM
http://www.limics.org/hrdo/rdfns#pat_id_139 HRDO LOOM
http://purl.jp/bio/4/id/200906011442457180 IOBC LOOM
http://localhost/plosthes.2017-1#7162 PLOSTHES LOOM
http://purl.bioontology.org/ontology/CSP/1849-7731 CRISP LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C16.131.077.730 RH-MESH LOOM
http://nanbyodata.jp/ontology/NANDO_1200678 NANDO LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C16.320.180.700 RH-MESH LOOM
http://purl.obolibrary.org/obo/OMIT_0012182 OMIT LOOM
http://www.projecthalo.com/aura#Prader-Willi-Syndrome AURA LOOM
http://sbmi.uth.tmc.edu/ontology/ochv#C0032897 OCHV LOOM
http://www.owl-ontologies.com/NPOntology.owl#DOID_11983 NATPRO LOOM
http://purl.bioontology.org/ontology/MEDLINEPLUS/C0032897 MEDLINEPLUS LOOM
http://www.phoc.org.cn/pmo/class/PMO_00040030 PMAPP-PMO LOOM
http://purl.bioontology.org/ontology/RCD/PKy93 RCD LOOM
http://purl.obolibrary.org/obo/MONDO_0008300 CCONT LOOM
http://purl.obolibrary.org/obo/MONDO_0008300 EFO LOOM
http://purl.obolibrary.org/obo/MONDO_0008300 MONDO LOOM
http://purl.obolibrary.org/obo/MONDO_0008300 EFO LOOM
http://purl.obolibrary.org/obo/MONDO_0008300 DOVES LOOM
http://purl.obolibrary.org/obo/Prader-Willi_Syndrome NND_ND LOOM
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#Prader_Willi_Syndrome CSEO LOOM
http://cbmi.med.harvard.edu/asdphenotype#Class_500 ASDPTO LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#D011218 RH-MESH LOOM
http://www.orpha.net/ORDO/Orphanet_739 ORDO LOOM
http://purl.bioontology.org/ontology/MESH/D011218 MESH LOOM
http://nanbyodata.jp/ontology/NANDO_2200411 NANDO LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C18.654.726.500.740 RH-MESH LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C10.597.606.643.690 RH-MESH LOOM
http://purl.bioontology.org/ontology/ICD9CM/759.81 ICD9CM LOOM
http://purl.bioontology.org/ontology/ICD9CM/759.81 NLMVS LOOM
rgo:08741 GAMUTS LOOM
http://purl.obolibrary.org/obo/NCIT_C75463 BERO LOOM
http://ontology.apa.org/apaonto/termsonlyOUT%20(5).owl#Prader_Willi_Syndrome APADISORDERS LOOM
http://ontology.apa.org/apaonto/termsonlyOUT%20(5).owl#Prader_Willi_Syndrome APAONTO LOOM
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C75463 NCIT LOOM
http://purl.bioontology.org/ontology/ICD10CM/Q87.11 ICD10CM LOOM
http://purl.obolibrary.org/obo/OGMD_0000072 OGMD LOOM
http://purl.obolibrary.org/obo/DOID_11983 CLO LOOM
http://purl.obolibrary.org/obo/DOID_11983 DTO LOOM
http://purl.obolibrary.org/obo/DOID_11983 DOID LOOM
http://purl.obolibrary.org/obo/DOID_11983 BAO LOOM
http://purl.obolibrary.org/obo/DOID_11983 NIFSTD LOOM
http://purl.obolibrary.org/obo/DOID_11983 FNS-H LOOM
http://purl.bioontology.org/ontology/MEDDRA/10036476 MEDDRA LOOM
http://www.owl-ontologies.com/unnamed.owl#RID15350 DERMLEX LOOM
http://www.owl-ontologies.com/Ontology1358660052.owl#Prader-Willi_Syndrome PEDTERM LOOM
http://purl.bioontology.org/ontology/RCTV2/PKy9300 RCTV2 LOOM