Medical Subject Headings

Last uploaded: January 31, 2024

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Preferred Name	Genetic Diseases, Inborn
Synonyms	Disorders, Genetic Genetic Disease, Inborn
Definitions	Diseases caused by genetic mutations that are inherited from a parent's genome.
ID	http://purl.bioontology.org/ontology/MESH/D030342
altLabel	Disorders, Genetic Disease, Hereditary Single-Gene Defects Diseases, Inborn Genetic Inborn Genetic Disease Genetic Disorder Disorder, Genetic Diseases, Genetic Genetic Disease Single Gene Defects Defects, Single-Gene Diseases, Hereditary Single-Gene Defect Disease, Inborn Genetic Disease, Genetic Hereditary Diseases Defect, Single-Gene Genetic Disorders Genetic Diseases Hereditary Disease Inborn Genetic Diseases Genetic Disease, Inborn
AN	general; prefer /genet with specific diseases
AQL	BL CF CI CL CO DG DH DI DT EC EH EM EN EP ET GE HI IM ME MI MO NU PA PC PP PS PX RH RT SU TH UR VE VI
cui	C0950123 C0037176 C0019247
DC	1
definition	Diseases caused by genetic mutations that are inherited from a parent's genome. Diseases that are caused by genetic mutations present during embryo or fetal development, although they may be observed later in life. The mutations may be inherited from a parent's genome or they may be acquired in utero.
DX	20020101
FX	D005826
HN	2002
Inverse of AQ	http://purl.bioontology.org/ontology/MESH/Q000097 http://purl.bioontology.org/ontology/MESH/Q000178 http://purl.bioontology.org/ontology/MESH/Q000175 http://purl.bioontology.org/ontology/MESH/Q000628 http://purl.bioontology.org/ontology/MESH/Q000276 http://purl.bioontology.org/ontology/MESH/Q000134 http://purl.bioontology.org/ontology/MESH/Q000139 http://purl.bioontology.org/ontology/MESH/Q000266 http://purl.bioontology.org/ontology/MESH/Q000378 http://purl.bioontology.org/ontology/MESH/Q000517 http://purl.bioontology.org/ontology/MESH/Q000662 http://purl.bioontology.org/ontology/MESH/Q000469 http://purl.bioontology.org/ontology/MESH/Q000150 http://purl.bioontology.org/ontology/MESH/Q000821 http://purl.bioontology.org/ontology/MESH/Q000191 http://purl.bioontology.org/ontology/MESH/Q000196 http://purl.bioontology.org/ontology/MESH/Q000473 http://purl.bioontology.org/ontology/MESH/Q000145 http://purl.bioontology.org/ontology/MESH/Q000382 http://purl.bioontology.org/ontology/MESH/Q000451 http://purl.bioontology.org/ontology/MESH/Q000453 http://purl.bioontology.org/ontology/MESH/Q000534 http://purl.bioontology.org/ontology/MESH/Q000532 http://purl.bioontology.org/ontology/MESH/Q000503 http://purl.bioontology.org/ontology/MESH/Q000188 http://purl.bioontology.org/ontology/MESH/Q000235 http://purl.bioontology.org/ontology/MESH/Q000201 http://purl.bioontology.org/ontology/MESH/Q000209 http://purl.bioontology.org/ontology/MESH/Q000208 http://purl.bioontology.org/ontology/MESH/Q000601 http://purl.bioontology.org/ontology/MESH/Q000000981 http://purl.bioontology.org/ontology/MESH/Q000652 http://purl.bioontology.org/ontology/MESH/Q000523 http://purl.bioontology.org/ontology/MESH/Q000401
Inverse of RO	http://purl.bioontology.org/ontology/MESH/D005826
Machine permutation	2002; for HEREDITARY DISEASES see HEREDITARY DISEASES 1968-2001
Mapped from	http://purl.bioontology.org/ontology/MESH/C562717 http://purl.bioontology.org/ontology/MESH/C562711 http://purl.bioontology.org/ontology/MESH/C562378 http://purl.bioontology.org/ontology/MESH/C562738 http://purl.bioontology.org/ontology/MESH/C564320 http://purl.bioontology.org/ontology/MESH/C566123 http://purl.bioontology.org/ontology/MESH/C562470 http://purl.bioontology.org/ontology/MESH/C562751 http://purl.bioontology.org/ontology/MESH/C562856 http://purl.bioontology.org/ontology/MESH/C566821 http://purl.bioontology.org/ontology/MESH/C565963 http://purl.bioontology.org/ontology/MESH/C565141 http://purl.bioontology.org/ontology/MESH/C562708 http://purl.bioontology.org/ontology/MESH/C562707 http://purl.bioontology.org/ontology/MESH/C566343 http://purl.bioontology.org/ontology/MESH/C563984 http://purl.bioontology.org/ontology/MESH/C565152 http://purl.bioontology.org/ontology/MESH/C562405 http://purl.bioontology.org/ontology/MESH/C564245
MDA	20010725
MMR	20160609
MN	C16.320
notation	D030342
prefLabel	Genetic Diseases, Inborn
TERMUI	T019715 T000898783 T444712 T446732 T019716 T000898784 T019718
TH	NLM (2002) UNK (19XX) POPLINE (1978) NLM (2017)
tui	T047
subClassOf	http://purl.bioontology.org/ontology/MESH/D009358

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Mapping To	Ontology	Source
http://purl.bioontology.org/ontology/NDFRT/N0000011105	NDFRT	CUI
http://purl.bioontology.org/ontology/SNOMEDCT/264572004	SNOMEDCT	CUI
http://purl.bioontology.org/ontology/LNC/LP62869-0	LOINC	CUI
http://purl.bioontology.org/ontology/MSHFRE/D030342	MSHFRE	CUI
http://purl.bioontology.org/ontology/SCTSPA/264572004	SCTSPA	CUI
http://purl.bioontology.org/ontology/MSHFRE/D030342	MSHFRE	CUI
http://purl.bioontology.org/ontology/RCD/XC0fH	RCD	CUI
http://purl.bioontology.org/ontology/LNC/MTHU021573	LOINC	CUI
http://purl.bioontology.org/ontology/MDRGER/10061205	MDRGER	CUI
http://purl.bioontology.org/ontology/MEDDRA/10019873	MEDDRA	CUI
http://purl.bioontology.org/ontology/SCTSPA/782964007	SCTSPA	CUI
http://purl.bioontology.org/ontology/LNC/LP56740-1	LOINC	CUI
http://purl.bioontology.org/ontology/SNOMEDCT/32895009	SNOMEDCT	CUI
http://purl.bioontology.org/ontology/SNOMEDCT/782964007	SNOMEDCT	CUI
http://purl.bioontology.org/ontology/PDQ/CDR0000256156	PDQ	CUI
http://purl.bioontology.org/ontology/MDRFRE/10019873	MDRFRE	CUI
http://purl.bioontology.org/ontology/RCD/Xa4hE	RCD	CUI
http://purl.bioontology.org/ontology/MDRGER/10019873	MDRGER	CUI
http://purl.bioontology.org/ontology/SCTSPA/32895009	SCTSPA	CUI
http://purl.bioontology.org/ontology/MEDLINEPLUS/C0019247	MEDLINEPLUS	CUI
http://purl.bioontology.org/ontology/MDRFRE/10061205	MDRFRE	CUI
http://purl.bioontology.org/ontology/MEDDRA/10061205	MEDDRA	CUI
http://purl.bioontology.org/ontology/CSP/1254-7727	CRISP	CUI
http://purl.bioontology.org/ontology/LNC/MTHU025721	LOINC	CUI
http://purl.bioontology.org/ontology/MSHFRE/D030342	MSHFRE	CUI
http://purl.bioontology.org/ontology/SNMI/DF-00180	SNMI	CUI
http://phenomebrowser.net/ontologies/mesh/mesh.owl#D030342	RH-MESH	LOOM
http://www.phoc.org.cn/pmo/class/PMO_00036558	PMAPP-PMO	LOOM
http://purl.obolibrary.org/obo/OMIT_0021781	OMIT	LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C16.320	RH-MESH	LOOM