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Medical Subject Headings
Last uploaded:
March 22, 2026
| Id | http://purl.bioontology.org/ontology/MESH/D000080344
http://purl.bioontology.org/ontology/MESH/D000080344
|
|---|---|
| Preferred Name | Optic Nerve Hypoplasia |
| Definitions |
Underdevelopment of the superior aspect of the OPTIC NERVE HEAD.
A group of rare genetic disorders characterized by underdeveloped OPTIC NERVES, resulting in increased incidences of vision impairment, CONGENITAL NYSTAGMUS and STRABISMUS. It may be syndromic, and is often associated with CNS malformations.
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| Synonyms |
Hypoplasia, Optic Nerve
Superior Segmental Optic Nerve Hypoplasia
Superior Segmental Optic Hypoplasia
|
| Type | http://www.w3.org/2002/07/owl#Class |
All Properties
| definition | Underdevelopment of the superior aspect of the OPTIC NERVE HEAD. A group of rare genetic disorders characterized by underdeveloped OPTIC NERVES, resulting in increased incidences of vision impairment, CONGENITAL NYSTAGMUS and STRABISMUS. It may be syndromic, and is often associated with CNS malformations. |
|---|---|
| altLabel |
Hypoplasia, Optic Nerve
Superior Segmental Optic Nerve Hypoplasia
Superior Segmental Optic Hypoplasia
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| prefLabel | Optic Nerve Hypoplasia
|
| Machine permutation | 2020
|
| HN | 2020
|
| type | |
| tui | T047
|
| TERMUI |
T000951572
T000951570
T000951571
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| TH | NLM (2020)
|
| MMR | 20200101
|
| notation | D000080344
|
| Semantic type UMLS property | |
| Inverse of AQ |
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| DX | 20200101
|
| cui |
C5197730
C0338502
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| DC | 1
|
| MN |
C16.320.290.612
C11.270.588
C11.640.522
C10.500.760
C10.292.700.463
C16.131.666.763
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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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| MDA | 20190212
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| subClassOf |
| Delete | Subject | Author | Type | Created |
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| No notes to display |