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Medical Subject Headings
Last uploaded:
January 16, 2025
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| Id | http://purl.bioontology.org/ontology/MESH/D030342
http://purl.bioontology.org/ontology/MESH/D030342
|
|---|---|
| Preferred Name | Genetic Diseases, Inborn |
| Definitions |
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.
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| Synonyms |
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
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| Type | http://www.w3.org/2002/07/owl#Class |
All Properties
| 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. |
|---|---|
| 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
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| prefLabel |
Genetic Diseases, Inborn
|
| TH |
NLM (2002)
UNK (19XX)
POPLINE (1978)
NLM (2017)
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| notation |
D030342
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| DX |
20020101
|
| Machine permutation |
2002; for HEREDITARY DISEASES see HEREDITARY DISEASES 1968-2001
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| MN |
C16.320
|
| FX |
D005826
|
| MMR |
20160609
|
| Mapped from |
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| 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
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| HN |
2002
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| subClassOf | |
| Semantic type UMLS property | |
| DC |
1
|
| MDA |
20010725
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| Inverse of RO | |
| type | |
| tui |
T047
|
| cui |
C0950123
C0037176
C0019247
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| AN |
general; prefer /genet with specific diseases
|
| Inverse of AQ |
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| TERMUI |
T019715
T000898783
T444712
T446732
T019716
T000898784
T019718
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