Disease association ontology term - MONDO:0001084 - primary optic atrophy
Term summary
ID
MONDO:0001084
Name
primary optic atrophy
Ontology or CV name
Disease association
Parents
is_a
optic atrophy
Annotation
Disease association
MONDO:0014720
-
autosomal dominant optic atrophy plus syndrome
References:
PB_REF:0000003
Genes:
msp1 (SPBC1718.06)
MONDO:0008134
-
autosomal dominant optic atrophy, classic form
References:
PB_REF:0000006
Genes:
msp1 (SPBC1718.06)
MONDO:0020737
-
optic atrophy 10 with or without ataxia, intellectual disability, and seizures
References:
PB_REF:0000006
Genes:
SPBC16A3.02c
MONDO:0015011
-
optic atrophy 11
References:
PB_REF:0000006
Genes:
yme1 (SPCC965.04c)
MONDO:0033549
-
optic atrophy 12
References:
PB_REF:0000006
Genes:
yta12 (SPBC543.09)
MONDO:0008135
-
optic atrophy 13 with retinal and foveal abnormalities
References:
PB_REF:0000006
Genes:
rim1 (SPAC2F3.04c)
MONDO:0957935
-
optic atrophy 15
References:
PB_REF:0000006
Genes:
mct1 (SPAC11G7.05c)
MONDO:0957978
-
optic atrophy 16
References:
PB_REF:0000006
Genes:
etr1 (SPAC26F1.04c)
MONDO:0008133
-
optic atrophy 3
References:
PB_REF:0000006
Genes:
opa3 (SPBC1703.11)
MONDO:0012543
-
optic atrophy 5
References:
PB_REF:0000006
Genes:
dnm1 (SPBC12C2.08)
vps1 (SPAC767.01c)
MONDO:0014571
-
optic atrophy 9
References:
PB_REF:0000006
Genes:
aco1 (SPAC24C9.06c)
aco2 (SPBP4H10.15)
MONDO:0007429
-
optic atrophy with or without deafness, ophthalmoplegia, myopathy, ataxia, and neuropathy
References:
PB_REF:0000006
Genes:
msp1 (SPBC1718.06)