Human Disease Ontology 123

Last uploaded: September 28, 2023
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].

database_cross_reference

ICD10CM:Q87.11

NCI:C75463

OMIM:176270

UMLS_CUI:C0032897

MESH:D011218

SNOMEDCT_US_2022_09_01:205794007

ORDO:739

GARD:5575

ICD9CM:759.81

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.

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#DO_rare_slim

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

label

Prader-Willi syndrome

notation

DOID:11983

prefLabel

Prader-Willi syndrome

subClassOf

http://purl.obolibrary.org/obo/DOID_225

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

Delete Subject Author Type Created
No notes to display
Create New Mapping

Delete Mapping To Ontology Source
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C75463 National Cancer Institute Thesaurus LOOM
http://purl.bioontology.org/ontology/OMIM/176270 Online Mendelian Inheritance in Man LOOM
http://purl.bioontology.org/ontology/MEDLINEPLUS/C0032897 MedlinePlus Health Topics LOOM
http://purl.bioontology.org/ontology/MESH/D011218 Medical Subject Headings LOOM