Prader-Willi syndrome

Prader-Willi syndrome

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

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. [ url:https://www.ncbi.nlm.nih.gov/books/NBK1330/ http://purl.obolibrary.org/obo/ECO_0007637 url:https://ghr.nlm.nih.gov/condition/prader-willi-syndrome ]

Synonyms: Prader Willi syndrome

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This is just here as a test because I lose it

Term information

database cross reference

NCI:C75463
MESH:D011218
ICD10CM:Q87.11
ICD9CM:759.81
GARD:5575
ORDO:739
MIM:176270
UMLS_CUI:C0032897
SNOMEDCT_US_2023_03_01:205794007

Subsets

DO_rare_slim, NCIthesaurus

comment

OMIM mapping confirmed by DO. [SN].

has obo namespace

disease_ontology

DOID:11983

Term relations

Subclass of:

syndrome
chromosomal disease
has material basis in min 1 (loss_of_function_variant and maternal_uniparental_disomy or chromosomal_deletion and loss_of_function_variant and paternal_variant or chromosomal_translocation and loss_of_function_variant)
disease has basis in some symptom