Link to this page
Computer Retrieval of Information on Scientific Projects Thesaurus
Last uploaded:
September 25, 2013
| Id | http://purl.bioontology.org/ontology/CSP/1254-7727
http://purl.bioontology.org/ontology/CSP/1254-7727
|
|---|---|
| Preferred Name | genetic disorder |
| Definitions |
general term for any disorder caused by a genetic mechanism, comprising chromosome aberrations or anomalies, mendelian or monogenic or single-gene disorders, and multifactorial disorders; note that all genetic disorders are not treed under this term; see RTs for others; in addition, many disorders not treed here or under RTs may have a genetic component.
|
| Synonyms |
subacute necrotizing encephalomyelopathy
Alstrom syndrome
Clouston's syndrome
Laurence Moon Biedl syndrome
hereditary disorder
hereditary cerebellar degeneration
Multiple Lentigines
Leigh disease
familial Mediterranean fever
malformation
Bardet Biedel syndrome
corneal dystrophy
LEOPARD syndrome
Rabson Mendenhall syndrome
deformity
Joubert syndrome
familial disorder
See more
See less
|
| Type | http://www.w3.org/2002/07/owl#Class |
All Properties
| definition | general term for any disorder caused by a genetic mechanism, comprising chromosome aberrations or anomalies, mendelian or monogenic or single-gene disorders, and multifactorial disorders; note that all genetic disorders are not treed under this term; see RTs for others; in addition, many disorders not treed here or under RTs may have a genetic component. |
|---|---|
| altLabel |
subacute necrotizing encephalomyelopathy
Alstrom syndrome
Clouston's syndrome
Laurence Moon Biedl syndrome
hereditary disorder
hereditary cerebellar degeneration
Multiple Lentigines
Leigh disease
familial Mediterranean fever
malformation
Bardet Biedel syndrome
corneal dystrophy
LEOPARD syndrome
Rabson Mendenhall syndrome
deformity
Joubert syndrome
familial disorder
See more
See less
|
| prefLabel | genetic disorder
|
| Inverse of RO |
See more
See less
|
| type | |
| tui |
T047
T019
|
| Inverse of RN |
See more
See less
|
| notation | 1254-7727
|
| Semantic type UMLS property | |
| DID | 1254-7727
|
| cui |
C0010036
C0268425
C0270752
C0271695
C0031069
C0023138
C0431399
C0023264
C0752166
C0175704
C0000768
C0277558
C0162361
C1328931
C0019247
See more
See less
|
| Inverse of RB | |
| subClassOf |
| Delete | Subject | Author | Type | Created |
|---|---|---|---|---|
| No notes to display |