Search on: MFN=59180 
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Descriptor English:   Optic Nerve Hypoplasia 
Descriptor Spanish:   Hipoplasia del Nervio Óptico 
Descriptor Portuguese:   Hipoplasia do Nervo Óptico 
Synonyms English:   Hypoplasia, Optic Nerve
Superior Segmental Optic Hypoplasia
Superior Segmental Optic Nerve Hypoplasia  
Tree Number:   C10.292.700.463
C10.500.760
C11.270.588
C11.640.522
C16.131.666.763
C16.320.290.612
Definition English:   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. 
History Note English:   2020 
Allowable Qualifiers English:  
BL blood CF cerebrospinal fluid
CI chemically induced CL classification
CO complications DI diagnosis
DG diagnostic imaging DH diet therapy
DT drug therapy EC economics
EM embryology EN enzymology
EP epidemiology EH ethnology
ET etiology GE genetics
HI history IM immunology
ME metabolism MI microbiology
MO mortality NU nursing
PS parasitology PA pathology
PP physiopathology PC prevention & control
PX psychology RT radiotherapy
RH rehabilitation SU surgery
TH therapy UR urine
VE veterinary VI virology
Record Number:   59180 
Unique Identifier:   D000080344 

Occurrence in VHL:
 

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