Sources of definitions for MedGen records

MedGen Documentation Pages

All sources of MedGen definitions, descriptions and disease characteristics

MedGen pulls definitions, descriptions and disease characteristics from authoritative sources and displays attribution to identify the source of the definition. The full list of sources is:

Table 1: All sources of MedGen definitions and descriptions
Abbreviation	Name	URL link
AIR*	AI/RHEUM (Artificial Intelligence Rheumatology consultant system)	http://www.nlm.nih.gov/research/umls/knowledge_sources/metathesaurus/release/source_vocabularies.html
AOT*	Authorized Osteopathic Thesaurus	http://www.aacom.org/resources/bookstore/thesaurus/Pages/default.aspx
CCC*	Clinical Care Classification, 2_5	http://www.sabacare.com
CHV*	Consumer Health Vocabulary	http://consumerhealthvocab.org
CSP*	CRISP Thesaurus, 2006	http://www.nlm.nih.gov/research/umls/sourcereleasedocs/current/CSP
CPIC^	Clinical Pharmacogenetics Implementation Consortium	https://cpicpgx.org/
GeneReviews	GeneReviews	http://www.ncbi.nlm.nih.gov/books/NBK1116
GO*	Gene Ontology	http://www.geneontology.org
HL7 v3.0*	HL7 Vocabulary Version 3.0	http://www.hl7.org
HPO	Human Phenotype Ontology	http://www.human-phenotype-ontology.org
ICF-CY*	International Classification of Functioning, Disability and Health for Children and Youth	http://www.nlm.nih.gov/research/umls/sourcereleasedocs/current/ICF-CY/mrsab.html
JABL*	Congenital Mental Retardation Syndromes	http://www.nlm.nih.gov/archive/20061212/mesh/jablonski/mesh/jablonski/syndrome_db.html
LNC*	LOINC	http://www.loinc.org/
MedlinePlus	MedlinePlus Health Topics	http://www.nlm.nih.gov/medlineplus/healthtopics.html
Mondo	Mondo disease ontology, Monarch Initiative	https://mondo.monarchinitiative.org/
MeSH*	Medical Subject Headings	http://www.nlm.nih.gov/pubs/factsheets/mesh.html
Medical Genetics Summaries^	Medical Genetics Summaries	http://www.ncbi.nlm.nih.gov/books/NBK61999
MedlinePlus Genetics	MedlinePlus – Genetics	https://medlineplus.gov/genetics/
NANDA-I*	NANDA International, Inc. International Nursing Diagnoses: Definitions and Classification	http://www.nanda.org/Marketplace/NANDAIPublications.aspx
NCI*	NCI Thesaurus	http://ncit.nci.nih.gov
NOC*	Nursing Outcomes Classification, 3rd Edition	http://www.nlm.nih.gov/research/umls/knowledge_sources/metathesaurus/release/source_vocabularies.html
OMIM	Online Mendelian Inheritance in Man	http://www.omim.org
OMS*	Omaha System, 2005	http://www.omahasystem.org
ORDO/Orphanet	Orphanet Rare Disease Ontology/ Orphanet	https://www.orpha.net/
PDQ*	Physician Data Query	http://www.cancer.gov/cancertopics/pdq
PNDS*	Perioperative Nursing Data Set, 2nd edition	http://www.nlm.nih.gov/research/umls/sourcereleasedocs/current/PNDS/sourcerepresentation.html
PSY*	Thesaurus of Psychological Index Terms	http://www.nlm.nih.gov/research/umls/sourcereleasedocs/current/PSY
PharmGKB^	The Pharmacogenomics Knowledge Base	http://www.pharmgkb.org/
SNOMED CT*	SNOMED Clinical Terms	http://www.ihtsdo.org/snomed-ct

*Definitions imported via UMLS.

^These are definition sources only for pharmacologic-response terms.

Priority ranking of definition/description sources of diseases

MedGen prioritizes source definitions based on the ranking below.

Table 2

Table 2: Definition priority rank
Rank	Source
1	GeneReviews
2	PharmGKB*
3	Medical Genetics Summaries*
4	CPIC*
5	OMIM
6	MedlinePlus Genetics
7	SNOMED CT^
8	HPO
9	NCI^
10	Orphanet
11	Mondo
12	MeSH^
13	Other source vocabularies from UMLS

* These are definition sources only for pharmacologic-response terms.

^ These definitions are imported via UMLS.

Note: MedGen curators can also store definitions from authoritative sources and override this ranking. In these rare cases, the curated definition displays as the primary definition.

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Last Update: March 2025