Disease association ontology term - MONDO:0020249 - hereditary optic neuropathy
Term summary
ID
MONDO:0020249
Name
hereditary optic neuropathy
Ontology or CV name
Disease association
Parents
is_a
eye disorder
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:0009815
-
autosomal recessive osteopetrosis 1
References:
PB_REF:0000006
Genes:
vph1 (SPAC16E8.07c)
MONDO:0012676
-
autosomal recessive osteopetrosis 4
References:
PB_REF:0000006
Genes:
SPBC19C7.11
SPBC887.02
MONDO:0008858
-
Behr syndrome
References:
PB_REF:0000006
Genes:
msp1 (SPBC1718.06)
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:0007429
-
optic atrophy with or without deafness, ophthalmoplegia, myopathy, ataxia, and neuropathy
References:
PB_REF:0000006
Genes:
msp1 (SPBC1718.06)
MONDO:0957262
-
osteopetrosis, autosomal recessive 9
References:
PB_REF:0000006
Genes:
bor1 (SPBC543.05c)