LHON
MCID: LBR002
MIFTS: 60

Leber Hereditary Optic Neuropathy (LHON) malady

Genetic diseases, Rare diseases, Eye diseases, Neuronal diseases categories
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Summaries for Leber Hereditary Optic Neuropathy

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21Genetics Home Reference, 43NIH Rare Diseases, 47OMIM, 19GeneReviews, 33MalaCards
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NIH Rare Diseases:43 Leber hereditary optic neuropathy (lhon) is an inherited form of vision loss. although this condition usually begins in a person's teens or twenties, rare cases may appear in early childhood or later in adulthood. for unknown reasons, males are affected much more often than females. this condition is caused by mutations in the mt-nd1, mt-nd4, mt-nd4l, and mt-nd6 genes. last updated: 12/2/2011

MalaCards: Leber Hereditary Optic Neuropathy, also known as leber optic atrophy, is related to leber hereditary optic neuropathy with dystonia and mitochondrial complex i deficiency. An important gene associated with Leber Hereditary Optic Neuropathy is MT-ND4 (mitochondrially encoded NADH dehydrogenase 4), and among its related pathways are Cardiac muscle contraction and Metformin Pathway, Pharmacodynamic. The compounds solium and myxothiazol have been mentioned in the context of this disorder. Affiliated tissues include eye, spinal cord and testes.

Genetics Home Reference:21 Leber hereditary optic neuropathy (LHON) is an inherited form of vision loss. Although this condition usually begins in a person's teens or twenties, rare cases may appear in early childhood or later in adulthood. For unknown reasons, males are affected much more often than females.

Description from OMIM:47 535000,308905

GeneReviews summary for lhon

Aliases & Classifications for Leber Hereditary Optic Neuropathy

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8Disease Ontology, 19GeneReviews, 43NIH Rare Diseases, 21Genetics Home Reference, 10DISEASES, 49Orphanet, 47OMIM, 20GeneTests, 62UMLS, 9diseasecard, 22GTR, 45Novoseek, 35MeSH, 58SNOMED-CT, 40NCIt, 26ICD10 via Orphanet
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Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Genetic diseases, Rare diseases
Anatomical: Eye diseases, Neuronal diseases


Characteristics (Orphanet epidemiological data):

49
leber hereditary optic neuropathy:
Inheritance: Mitochondrial inheritance; Prevalence: 1-9/100000; Age of onset: Adolescence / Young adulthood; Age of death: Normal


Aliases & Descriptions:

leber hereditary optic neuropathy 8 19 43 21 10 49 47
leber optic atrophy 43 21 47 49
lhon 19 43 21 49
leber's hereditary optic neuropathy 8 20 21
leber's optic atrophy 8 19 21
hereditary optic neuroretinopathy 19 21
optic atrophy, leber type 43 22
leber's optic neuropathy 19 21
leber optic atrophy, susceptibility to 9
lebers hereditary optic neuropathy 45
optic atrophy, hereditary, leber 62
leber hereditary optic atrophy 21
disorder of the optic nerve 62
leber congenital amaurosis 62
optic atrophy, leber's 8
leber’s disease 43
leber's disease 19


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Disease Ontology8 DOID:705
MeSH35 D029242
NCIt40 C84808
ICD10 via Orphanet26 H47.2

Related Diseases for Leber Hereditary Optic Neuropathy

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17GeneCards, 18GeneDecks
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Diseases related to Leber Hereditary Optic Neuropathy via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show top 50)    (show all 53)
idRelated DiseaseScoreTop Affiliating Genes
1leber hereditary optic neuropathy with dystonia31.1MT-ND4, MT-ND6
2mitochondrial complex i deficiency30.9MT-ND6, MT-ND3, MT-ND5, NDUFA1
3melas syndrome30.4MT-ND5, MT-ND6, MT-ND1, MT-ND4
4neuropathy11.5
5dystonia10.7
6retinitis10.7
7neuromyelitis optica10.6
8leukemia10.5
9multiple sclerosis10.5
10optic atrophy10.5
11spasticity10.5
12central sleep apnea10.3
13wernicke encephalopathy10.3
14adrenoleukodystrophy10.3
15retinitis pigmentosa10.3
16dementia10.3
17demyelinating polyneuropathy10.3
18lymphoblastic leukemia10.3
19migraine10.3
20polyneuropathy10.3
21sleep apnea10.3
22spinocerebellar ataxia10.3
23thyroiditis10.3
24turner syndrome10.3
25optic atrophy type 110.3
26chorea and dementia10.3
27ataxia10.3
28chorea10.3
29myoclonus10.3
30optic nerve hypoplasia10.3
31charcot-marie-tooth disease10.2
32tooth disease10.2
33marsden nyhan sakati syndrome10.2
34neuritis10.1
35optic neuritis10.1
36alzheimer disease mitochondrial10.1MT-ND1, MT-ND2
37lactic acidosis10.1MT-ND5
38leber congenital amaurosis10.1
39spastic paraparesis10.1
40optic nerve disease10.1MT-ND4, MT-ND6, NDUFA1
41sparganosis10.1MT-ND3, MT-CO1
42leigh disease10.1MT-ND5, MT-ATP6, MT-ND3
43early myoclonic encephalopathy10.0NDUFS4, MT-ND5
44mitochondrial disorders10.0MT-ATP6, MT-CO3, MT-CO1
45noonan syndrome10.0MT-ATP6, MT-CYB, MT-ND1
46parkinson's disease10.0MT-ND1, MT-CYB, MT-ND5, NDUFS4
47amblyopia10.0
48essential hypertension10.0
49hypertension10.0
50alzheimer's disease10.0CS, NEFH

Graphical network of the top 20 diseases related to Leber Hereditary Optic Neuropathy:



Diseases related to leber hereditary optic neuropathy

Symptoms for Leber Hereditary Optic Neuropathy

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47OMIM
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Symptoms by clinical synopsis from OMIM:

535000

Clinical features from OMIM:

535000,308905

Drugs & Therapeutics for Leber Hereditary Optic Neuropathy

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42NIH Clinical Center, 6ClinicalTrials, 62UMLS, 41NDF-RT
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Drug clinical trials:

Search ClinicalTrials for Leber Hereditary Optic Neuropathy

Search NIH Clinical Center for Leber Hereditary Optic Neuropathy

Genetic Tests for Leber Hereditary Optic Neuropathy

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20GeneTests, 22GTR
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Genetic tests related to Leber Hereditary Optic Neuropathy:

id Genetic test Affiliating Genes
1 Leber Hereditary Optic Neuropathy20 MT-ND6
2 Leber's Optic Atrophy22

Anatomical Context for Leber Hereditary Optic Neuropathy

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33MalaCards
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MalaCards organs/tissues related to Leber Hereditary Optic Neuropathy:

33
Eye, Spinal cord, Testes, Thyroid

Animal Models for Leber Hereditary Optic Neuropathy or affiliated genes

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Publications for Leber Hereditary Optic Neuropathy

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52PubMed
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Articles related to Leber Hereditary Optic Neuropathy:

(show top 50)    (show all 208)
idTitleAuthorsYear
1
Intravitreal delivery of AAV-NDI1 provides functional benefit in a murine model of Leber hereditary optic neuropathy. (22669418)
2013
2
Are we there yet? Is neuro-ophthalmology at the cusp of a paradigm shift? Lessons from leber hereditary optic neuropathy. (23681244)
2013
3
Late-onset Leber hereditary optic neuropathy. (23433437)
2013
4
Effects of idebenone on color vision in patients with leber hereditary optic neuropathy. (23263355)
2013
5
Raised intraocular pressure as a potential risk factor for visual loss in Leber Hereditary Optic Neuropathy. (23667621)
2013
6
Mitochondrial DNA variant associated with Leber hereditary optic neuropathy and high-altitude Tibetans. (22517755)
2012
7
Neuromyelitis optica antibody in Leber hereditary optic neuropathy: case report. (23258662)
2012
8
Meta-analysis of the prevalence of Leber hereditary optic neuropathy mtDNA mutations in Europe. (21928272)
2012
9
Mutations for Leber hereditary optic neuropathy in patients with alcohol and tobacco optic neuropathy. (22194643)
2011
10
Leber hereditary optic neuropathy mimicking neuromyelitis optica. (21734595)
2011
11
Mitochondrial haplogroup background may influence Southeast Asian G11778A Leber hereditary optic neuropathy. (21398275)
2011
12
Leber hereditary optic neuropathy: some new observations. (21317730)
2011
13
Variation in OPA1 does not explain the incomplete penetrance of Leber hereditary optic neuropathy. (21203403)
2010
14
Papilloedema and MRI enhancement of the prechiasmal optic nerve at the acute stage of Leber hereditary optic neuropathy. (20460595)
2010
15
Molecular characterization of six Chinese families with m.3460G>A and Leber hereditary optic neuropathy. (20232220)
2010
16
Selective wavelength pupillometry in Leber hereditary optic neuropathy. (20447133)
2010
17
Evaluation of the X-linked modifier loci for Leber hereditary optic neuropathy with the G11778A mutation in Chinese. (20300564)
2010
18
Another case of leber hereditary optic neuropathy in an octogenarian. (19491649)
2009
19
Evidence for a novel x-linked modifier locus for leber hereditary optic neuropathy. (18363168)
2008
20
Protection against oxidant-induced apoptosis by exogenous glutathione in Leber hereditary optic neuropathy cybrids. (18235013)
2008
21
Leber hereditary optic neuropathy mutations in the ND6 subunit of mitochondrial complex I affect ubiquinone reduction kinetics in a bacterial model of the enzyme. (17894548)
2008
22
A MELAS-associated ND1 mutation causing leber hereditary optic neuropathy and spastic dystonia. (17562939)
2007
23
Progression of visual field defects in leber hereditary optic neuropathy: experience of the LHON treatment trial. (16765674)
2006
24
Demyelinating polyneuropathy in Leber hereditary optic neuropathy. (16690316)
2006
25
The unique characteristics of Thai Leber hereditary optic neuropathy: analysis of 30 G11778A pedigrees. (16477364)
2006
26
Proportion of 11778 mutant mitochondrial DNA and clinical expression in a thai population with leber hereditary optic neuropathy. (16148621)
2005
27
Leber hereditary optic neuropathy--a disease with a known molecular basis but a mysterious mechanism of pathology. (14617834)
2003
28
Sequence analysis of the mitochondrial genomes from Dutch pedigrees with Leber hereditary optic neuropathy. (12736867)
2003
29
Extensive investigation of a large Brazilian pedigree of 11778/haplogroup J Leber hereditary optic neuropathy. (12888043)
2003
30
The epidemiology of Leber hereditary optic neuropathy in the North East of England. (12518276)
2003
31
Migraine-like disorder segregating with mtDNA 14484 Leber hereditary optic neuropathy mutation. (12601121)
2003
32
Leber hereditary optic neuropathy: a nuclear solution of a mitochondrial problem. (12402246)
2002
33
Optic nerve enhancement in leber hereditary optic neuropathy: four years later. (11937919)
2002
34
Leber hereditary optic neuropathy associated with use of ephedra alkaloids. (12470769)
2002
35
Leber hereditary optic neuropathy, progressive visual loss, and multiple-sclerosis-like symptoms. (11589893)
2001
36
The Leber hereditary optic neuropathy 14,484 mutation and X-linked adrenoleukodystrophy: a possible modifier of phenotypic expression? (10472539)
1999
37
Detection of mitochondrial DNA nucleotide 11778 point mutation of Leber hereditary optic neuropathy from archival stained histopathological preparations. (9541429)
1998
38
Leber hereditary optic neuropathy: respiratory chain dysfunction and degeneration of the optic nerve. (9667014)
1998
39
Neuromyelitis optica (Devic's syndrome): no association with the primary mitochondrial DNA mutations found in Leber hereditary optic neuropathy. (9010406)
1997
40
Disease relevance of the so-called secondary Leber hereditary optic neuropathy mutations. (9199577)
1997
41
Tissue distribution of the ND4/11778 mutation in heteroplasmic lineages with Leber hereditary optic neuropathy. (9143920)
1997
42
Clustering of Caucasian Leber hereditary optic neuropathy patients containing the 11778 or 14484 mutations on an mtDNA lineage. (9012411)
1997
43
Three subgroups of patients from the United Kingdom with Leber hereditary optic neuropathy. (7821467)
1994
44
Pitfalls in the molecular genetic diagnosis of Leber hereditary optic neuropathy (LHON). (8213820)
1993
45
Finger prick blood testing in Leber hereditary optic neuropathy. (8318469)
1993
46
When does bilateral optic atrophy become Leber hereditary optic neuropathy? (8213825)
1993
47
Leber hereditary optic neuropathy in Australia. (1449769)
1992
48
A variant of Leber hereditary optic neuropathy characterized by recovery of vision and by an unusual mitochondrial genetic etiology. (1463007)
1992
49
Evidence against an X-linked locus close to DXS7 determining visual loss susceptibility in British and Italian families with Leber hereditary optic neuropathy. (1415219)
1992
50
Leber hereditary optic neuropathy: involvement of the mitochondrial ND1 gene and evidence for an intragenic suppressor mutation. (2018041)
1991

Variations for Leber Hereditary Optic Neuropathy

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1 National Center for Biotechnology Information (Clinvar)
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Clinvar genetic disease variations for Leber Hereditary Optic Neuropathy:

1 (show all 42)
id Gene Name Type Significance SNP ID Assembly Location
1MT-ND5m.12338T> Csingle nucleotide variantPathogenicrs201863060GRCh37Chr MT, 12338: 12338
2m.10237T> Csingle nucleotide variantPathogenicrs397515504GRCh37Chr MT, 10237: 10237
3MT-ND4m.11253T> Csingle nucleotide variantPathogenicrs200145866GRCh37Chr MT, 11253: 11253
4MT-ND5m.12811T> Csingle nucleotide variantPathogenicrs199974018GRCh37Chr MT, 12811: 12811
5MT-ND5m.13637A> Gsingle nucleotide variantPathogenicrs200855215GRCh37Chr MT, 13637: 13637
6MT-ND6m.14325T> Csingle nucleotide variantPathogenicrs397515505GRCh37Chr MT, 14325: 14325
7MT-ND6m.14482C> Gsingle nucleotide variantPathogenicrs199476108GRCh37Chr MT, 14482: 14482
8MT-ND6m.14498C> Tsingle nucleotide variantPathogenicGRCh37Chr MT, 14498: 14498
9MT-ND6m.14568C> Tsingle nucleotide variantPathogenicrs397515506GRCh37Chr MT, 14568: 14568
10MT-TEm.14729G> Asingle nucleotide variantPathogenicGRCh38Chr MT, 14729: 14729
11MT-CYBm.14831G> Asingle nucleotide variantPathogenicrs199795644GRCh37Chr MT, 14831: 14831
12MT-ND1m.3635G> Asingle nucleotide variantPathogenicrs397515507GRCh37Chr MT, 3635: 3635
13MT-ND1m.3700G> Asingle nucleotide variantPathogenicrs397515508GRCh37Chr MT, 3700: 3700
14MT-ND1m.4025C> Tsingle nucleotide variantPathogenicrs397515509GRCh37Chr MT, 4025: 4025
15MT-ND1m.3376G> Asingle nucleotide variantPathogenicrs397515612GRCh37Chr MT, 3376: 3376
16MT-ATP6m.9101T> Csingle nucleotide variantPathogenicrs199476134GRCh37Chr MT, 9101: 9101
17MT-CO3m.9438G> Asingle nucleotide variantPathogenicrs267606611GRCh37Chr MT, 9438: 9438
18MT-CO3m.9804G> Asingle nucleotide variantPathogenicrs200613617GRCh37Chr MT, 9804: 9804
19m.7444G> Asingle nucleotide variantPathogenicrs199474822GRCh37Chr MT, 7444: 7444
20MT-CYBm.15257G> Asingle nucleotide variantPathogenic, Uncertain significancers41518645GRCh37Chr MT, 15257: 15257
21MT-CYBm.15812G> Asingle nucleotide variantPathogenicrs200336777GRCh37Chr MT, 15812: 15812
22MT-ND6m.14484T> Csingle nucleotide variantPathogenicrs199476104GRCh37Chr MT, 14484: 14484
23MT-ND6m.14459G> Asingle nucleotide variantPathogenicrs199476105GRCh37Chr MT, 14459: 14459
24MT-ND6m.14596A> Tsingle nucleotide variantPathogenicrs387906424GRCh37Chr MT, 14596: 14596
25MT-ND6m.14495A> Gsingle nucleotide variantPathogenicrs199476106GRCh37Chr MT, 14495: 14495
26MT-ND6m.14482C> Asingle nucleotide variantPathogenicrs199476108GRCh37Chr MT, 14482: 14482
27MT-ND5m.13708G> Asingle nucleotide variantPathogenic, Uncertain significancers28359178GRCh37Chr MT, 13708: 13708
28MT-ND5m.13730G> Asingle nucleotide variantPathogenicrs387906425GRCh37Chr MT, 13730: 13730
29MT-ND5m.13045A> Csingle nucleotide variantPathogenicrs267606895GRCh37Chr MT, 13045: 13045
30MT-ND5m.12848C> Tsingle nucleotide variantPathogenicrs267606899GRCh37Chr MT, 12848: 12848
31MT-ND4Lm.10663T> Csingle nucleotide variantPathogenicrs199476114GRCh37Chr MT, 10663: 10663
32MT-ND4m.11778G> Asingle nucleotide variantPathogenicrs199476112GRCh37Chr MT, 11778: 11778
33MT-ND4m.11696G> Asingle nucleotide variantPathogenicrs200873900GRCh37Chr MT, 11696: 11696
34MT-ND2m.5244G> Asingle nucleotide variantPathogenicrs199476115GRCh37Chr MT, 5244: 5244
35MT-ND2m.4640C> Asingle nucleotide variantPathogenicrs387906426GRCh37Chr MT, 4640: 4640
36MT-ND1m.3460G> Asingle nucleotide variantPathogenicrs199476118GRCh37Chr MT, 3460: 3460
37MT-ND1m.4160T> Csingle nucleotide variantPathogenicrs199476119GRCh37Chr MT, 4160: 4160
38MT-ND1m.3394T> Csingle nucleotide variantPathogenicrs41460449GRCh37Chr MT, 3394: 3394
39MT-ND1m.4136A> Gsingle nucleotide variantPathogenicrs199476121GRCh37Chr MT, 4136: 4136
40MT-ND1m.4171C> Asingle nucleotide variantPathogenicrs28616230GRCh37Chr MT, 4171: 4171
41MT-ND1m.3697G> Asingle nucleotide variantPathogenicrs199476122GRCh37Chr MT, 3697: 3697
42MT-ND1m.3733G> Asingle nucleotide variantPathogenicrs199476125GRCh37Chr MT, 3733: 3733

Expression for genes affiliated with Leber Hereditary Optic Neuropathy

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2BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Leber Hereditary Optic Neuropathy

Search GEO for disease gene expression data for Leber Hereditary Optic Neuropathy.

Pathways for genes affiliated with Leber Hereditary Optic Neuropathy

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50PathCards, 30KEGG, 51PharmGKB, 55Reactome, 38NCBI BioSystems Database
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Compounds for genes affiliated with Leber Hereditary Optic Neuropathy

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45Novoseek, 11DrugBank, 29IUPHAR, 24HMDB
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Compounds related to Leber Hereditary Optic Neuropathy according to GeneCards/GeneDecks:

(show all 36)
idCompoundScoreTop Affiliating Genes
1solium4510.0MT-ATP6, MT-CO1, MT-ND1
2myxothiazol45 1110.8NDUFS4, MT-CYB
3citrinin459.8MT-CYB, NDUFS4
4cholic acid45 29 24 1112.8MT-CO1, MT-CO3, MT-CYB
5oligomycin459.8NDUFS4, MT-ATP6
6ubiquinol459.8CS, MT-CYB
7methionine459.8MT-ND1, MT-ND6, MT-ND2, MT-ND5
8antimycin a459.7NDUFS4, MT-CYB
9rrna459.5CS, MT-CYB, MT-CO1
10fumarate45 1110.3CS, MT-CYB
11rotenone459.3MT-ND1, MT-ND6, CS, NDUFS4
12ubiquinone459.2MT-ND4, MT-CYB, CS, NDUFS4
13Ubiquinol 8249.2MT-ND4, MT-ND5, MT-ND3, MT-ND2, MT-ND6, MT-ND4L
14nad+459.1MT-ND4, MT-CYB, CS, NDUFS4
15valine459.1MT-ND4, MT-ND1, MT-ND6, MT-ND2, MT-ND5, CS
16glyceraldehyde 3-phosphate459.0NDUFS4, CS, MT-CYB
17citrate459.0MT-CO1, MT-CO3, CS, NDUFS4
18lactate459.0MT-ND4, MT-ND1, CS, NDUFS4
19pyruvate458.9MT-ND4, MT-ND1, MT-ND3, CS, NDUFS4
20succinate458.9MT-ND4, MT-CO1, MT-CYB, CS, NDUFS4
21Sulfide248.8MT-ND4, MT-ND1, MT-ND4L, MT-ND6, MT-ND2, NDUFS4
22QH2248.8MT-ND6, MT-ND4L, MT-ND1, MT-ND4, MT-ND2, NDUFS4
23Ubiquinone Q2248.8NDUFA1, NDUFS4, MT-ND2, MT-ND6, MT-ND4L, MT-ND1
24FAD248.8MT-ND4, MT-ND1, MT-ND4L, MT-ND6, MT-ND2, NDUFS4
25threonine458.7MT-ND4, MT-ND1, MT-CYB, MT-ND2, MT-ND3, MT-ND5
26hydrogen45 249.7MT-CO1, MT-CYB, MT-ATP6, CS, NDUFS4
27alanine458.6MT-ND1, MT-ND6, MT-CYB, MT-ND2, MT-ND3, MT-ND5
28glucose458.3MT-ND4, MT-ND1, MT-CO1, MT-CO3, MT-CYB, CS
29oxygen45 249.3MT-CO1, MT-ND6, MT-CYB, MT-ND2, MT-ATP6, CS
30Ubiquinone Q1248.2MT-ND5, MT-ND3, MT-ND2, MT-ND6, MT-ND4L, MT-ND1
31nad29 249.2MT-ND4, MT-ND1, MT-ND4L, MT-ND6, MT-ND2, MT-ND3
32superoxide45 249.1NEFH, MT-CYB, CS, NDUFS4
33atp45 298.8MT-ND4, MT-ND1, MT-CO1, MT-CO3, MT-CYB, MT-ATP6
34iron45 248.5NDUFA1, NDUFS4, CS, MT-ND2, MT-CYB, MT-ND6
35serine457.5NEFH, MT-ND1, MT-ND6, MT-CYB, MT-ND3, MT-ND5
36nadh45 24 118.4NDUFA1, NDUFS4, CS, MT-ND5, MT-ATP6, MT-ND3

GO Terms for genes affiliated with Leber Hereditary Optic Neuropathy

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16Gene Ontology
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Cellular components related to Leber Hereditary Optic Neuropathy according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1mitochondrial respiratory chain complex IGO:0057479.5NDUFA1, NDUFS4

Biological processes related to Leber Hereditary Optic Neuropathy according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1mitochondrial electron transport, NADH to ubiquinoneGO:0061209.5NDUFA1, NDUFS4
2cellular metabolic processGO:0442378.6NDUFA1, NDUFS4, CS

Molecular functions related to Leber Hereditary Optic Neuropathy according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1NADH dehydrogenase (ubiquinone) activityGO:0081379.5NDUFA1, NDUFS4

Products for genes affiliated with Leber Hereditary Optic Neuropathy

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  • Antibodies
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Sources for Leber Hereditary Optic Neuropathy

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4CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
52PubMed
53QIAGEN
59SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet