LCA8
MCID: LBR018
MIFTS: 41

Leber Congenital Amaurosis 8 (LCA8)

Categories: Eye diseases, Genetic diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Leber Congenital Amaurosis 8

MalaCards integrated aliases for Leber Congenital Amaurosis 8:

Name: Leber Congenital Amaurosis 8 56 12 52 73 29 13 6 15 71
Lca8 56 12 52 73
Leber Congenital Amaurosis, Type 8 39

Characteristics:

OMIM:

56
Inheritance:
autosomal recessive


HPO:

31
leber congenital amaurosis 8:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0110079
OMIM 56 613835
OMIM Phenotypic Series 56 PS204000
MeSH 43 D057130
ICD10 32 H35.5
MedGen 41 C3151202
UMLS 71 C3151202

Summaries for Leber Congenital Amaurosis 8

OMIM : 56 Leber congenital amaurosis comprises a group of early-onset childhood retinal dystrophies characterized by vision loss, nystagmus, and severe retinal dysfunction. Patients usually present at birth with profound vision loss and pendular nystagmus. Electroretinogram (ERG) responses are usually nonrecordable. Other clinical findings may include high hypermetropia, photodysphoria, oculodigital sign, keratoconus, cataracts, and a variable appearance to the fundus (summary by Chung and Traboulsi, 2009). For a general description and a discussion of genetic heterogeneity of LCA, see 204000. (613835)

MalaCards based summary : Leber Congenital Amaurosis 8, also known as lca8, is related to yemenite deaf-blind hypopigmentation syndrome and retinitis pigmentosa 12. An important gene associated with Leber Congenital Amaurosis 8 is CRB1 (Crumbs Cell Polarity Complex Component 1), and among its related pathways/superpathways is Hippo signaling pathway. Affiliated tissues include retina, eye and bone, and related phenotypes are cataract and visual impairment

Disease Ontology : 12 A Leber congenital amaurosis that is characterized by night blindness and thick unlaminated retinas and has material basis in mutation in the CRB1 gene on chromosome 1q31-q32.

UniProtKB/Swiss-Prot : 73 Leber congenital amaurosis 8: A severe dystrophy of the retina, typically becoming evident in the first years of life. Visual function is usually poor and often accompanied by nystagmus, sluggish or near-absent pupillary responses, photophobia, high hyperopia and keratoconus.

Related Diseases for Leber Congenital Amaurosis 8

Diseases in the Leber Congenital Amaurosis family:

Leber Congenital Amaurosis 1 Leber Congenital Amaurosis 2
Leber Congenital Amaurosis 3 Leber Congenital Amaurosis 4
Leber Congenital Amaurosis 5 Leber Congenital Amaurosis 9
Leber Congenital Amaurosis 12 Leber Congenital Amaurosis 10
Leber Congenital Amaurosis 13 Leber Congenital Amaurosis 14
Leber Congenital Amaurosis 6 Leber Congenital Amaurosis 7
Leber Congenital Amaurosis 8 Leber Congenital Amaurosis 11
Leber Congenital Amaurosis 15 Leber Congenital Amaurosis 16
Leber Congenital Amaurosis 17 Leber Congenital Amaurosis 19

Diseases related to Leber Congenital Amaurosis 8 via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 52)
# Related Disease Score Top Affiliating Genes
1 yemenite deaf-blind hypopigmentation syndrome 30.1 GUCY2D CRB1 AIPL1
2 retinitis pigmentosa 12 30.0 MPP5 CRB2 CRB1
3 retinal disease 28.0 TULP1 RDH12 IMPDH1 GUCY2D CRB1 AIPL1
4 leber congenital amaurosis 26.2 TULP1 SPATA7 RDH12 MPP5 LCA5 IMPDH1
5 retinitis pigmentosa 26.1 TULP1 SPATA7 RDH12 MPP5 LCA5 IMPDH1
6 neuroretinitis 10.2
7 retinitis 10.2
8 severe early-childhood-onset retinal dystrophy 10.1 SPATA7 LCA5
9 cone-rod dystrophy 12 10.1 GUCY2D AIPL1
10 chorioretinal scar 10.0 RDH12 CRB1
11 color blindness 10.0 GUCY2D AIPL1
12 retinoschisis 1, x-linked, juvenile 10.0 CRB1 AIPL1
13 optic disk drusen 9.9 TULP1 CRB1
14 cone-rod dystrophy 8 9.9 LCA5 GUCY2D AIPL1
15 enhanced s-cone syndrome 9.8 TULP1 AIPL1
16 choroidal dystrophy, central areolar, 1 9.8 SPATA7 GUCY2D AIPL1
17 usher syndrome type 2 9.7 TULP1 CRB1
18 fundus albipunctatus 9.6 TULP1 RDH12 CRB1
19 pseudopapilledema 9.6 RDH12 GUCY2D CRB1 AIPL1
20 inherited retinal disorder 9.5 RDH12 LCA5 GUCY2D CRB1
21 hereditary retinal dystrophy 9.5 SPATA7 RDH12 GUCY2D CRB1
22 usher syndrome 9.4 TULP1 RDH12 LCA5 CRB1
23 pseudoretinitis pigmentosa 9.4 TULP1 IMPDH1 CRB1
24 leber congenital amaurosis 16 9.4 SPATA7 LCA5 GUCY2D CRB1 AIPL1
25 cone-rod dystrophy 2 9.3 TULP1 GUCY2D CRB1 AIPL1
26 macular degeneration, age-related, 1 9.3 RDH12 GUCY2D CRB1
27 leber congenital amaurosis 13 9.1 TULP1 SPATA7 RDH12 LCA5 AIPL1
28 eye disease 9.0 TULP1 RDH12 GUCY2D CRB1 AIPL1
29 leber congenital amaurosis 14 8.9 SPATA7 RDH12 LCA5 IMPDH1 AIPL1
30 stargardt disease 8.9 TULP1 RDH12 LCA5 GUCY2D CRB1 AIPL1
31 congenital stationary night blindness 8.8 TULP1 RDH12 LCA5 GUCY2D CRB1 AIPL1
32 achromatopsia 8.8 TULP1 SPATA7 RDH12 GUCY2D CRB1 AIPL1
33 leber congenital amaurosis 12 8.6 SPATA7 RDH12 LCA5 IMPDH1 GUCY2D AIPL1
34 usher syndrome, type iiia 8.6 TULP1 RDH12 LCA5 IMPDH1 CRB1 AIPL1
35 leber congenital amaurosis 15 8.5 TULP1 SPATA7 RDH12 LCA5 IMPDH1 AIPL1
36 leber congenital amaurosis 5 8.5 TULP1 SPATA7 RDH12 LCA5 IMPDH1 AIPL1
37 leber congenital amaurosis 11 8.4 SPATA7 RDH12 LCA5 IMPDH1 GUCY2D CRB1
38 leber congenital amaurosis 1 7.9 TULP1 SPATA7 RDH12 LCA5 IMPDH1 GUCY2D
39 pathologic nystagmus 7.9 TULP1 SPATA7 RDH12 LCA5 IMPDH1 GUCY2D
40 leber congenital amaurosis 7 7.9 TULP1 SPATA7 RDH12 LCA5 IMPDH1 GUCY2D
41 leber congenital amaurosis 6 7.9 TULP1 SPATA7 RDH12 LCA5 IMPDH1 GUCY2D
42 leber congenital amaurosis 10 7.9 TULP1 SPATA7 RDH12 LCA5 IMPDH1 GUCY2D
43 leber congenital amaurosis 9 7.9 TULP1 SPATA7 RDH12 LCA5 IMPDH1 GUCY2D
44 leber congenital amaurosis 4 7.9 TULP1 SPATA7 RDH12 LCA5 IMPDH1 GUCY2D
45 leber congenital amaurosis 3 7.9 TULP1 SPATA7 RDH12 LCA5 IMPDH1 GUCY2D
46 senior-loken syndrome 1 7.9 TULP1 SPATA7 RDH12 LCA5 IMPDH1 GUCY2D
47 leber congenital amaurosis 2 7.9 TULP1 SPATA7 RDH12 LCA5 IMPDH1 GUCY2D
48 keratoconus 7.9 TULP1 SPATA7 RDH12 LCA5 IMPDH1 GUCY2D
49 bardet-biedl syndrome 7.9 TULP1 SPATA7 RDH12 LCA5 IMPDH1 GUCY2D
50 joubert syndrome 1 7.9 TULP1 SPATA7 RDH12 LCA5 IMPDH1 GUCY2D

Graphical network of the top 20 diseases related to Leber Congenital Amaurosis 8:



Diseases related to Leber Congenital Amaurosis 8

Symptoms & Phenotypes for Leber Congenital Amaurosis 8

Human phenotypes related to Leber Congenital Amaurosis 8:

31 (show all 9)
# Description HPO Frequency HPO Source Accession
1 cataract 31 HP:0000518
2 visual impairment 31 HP:0000505
3 reduced visual acuity 31 HP:0007663
4 deeply set eye 31 HP:0000490
5 high hypermetropia 31 HP:0008499
6 keratoconus 31 HP:0000563
7 choriocapillaris atrophy 31 HP:0030491
8 pendular nystagmus 31 HP:0012043
9 undetectable electroretinogram 31 HP:0000550

Symptoms via clinical synopsis from OMIM:

56
Head And Neck Eyes:
nystagmus
reduced visual acuity
enophthalmos
bone spicule-like pigmentation
attenuated retinal vessels (in some patients)
more

Clinical features from OMIM:

613835

MGI Mouse Phenotypes related to Leber Congenital Amaurosis 8:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 nervous system MP:0003631 9.81 AIPL1 CRB1 CRB2 GUCY2D LCA5 MPP5
2 vision/eye MP:0005391 9.32 AIPL1 CRB1 CRB2 GUCY2D IMPDH1 LCA5
3 pigmentation MP:0001186 9.26 CRB1 CRB2 LCA5 TULP1

Drugs & Therapeutics for Leber Congenital Amaurosis 8

Search Clinical Trials , NIH Clinical Center for Leber Congenital Amaurosis 8

Genetic Tests for Leber Congenital Amaurosis 8

Genetic tests related to Leber Congenital Amaurosis 8:

# Genetic test Affiliating Genes
1 Leber Congenital Amaurosis 8 29 CRB1

Anatomical Context for Leber Congenital Amaurosis 8

MalaCards organs/tissues related to Leber Congenital Amaurosis 8:

40
Retina, Eye, Bone

Publications for Leber Congenital Amaurosis 8

Articles related to Leber Congenital Amaurosis 8:

(show all 19)
# Title Authors PMID Year
1
A G1103R mutation in CRB1 is co-inherited with high hyperopia and Leber congenital amaurosis. 56 6
16543197 2006
2
Leber congenital amaurosis: comprehensive survey of the genetic heterogeneity, refinement of the clinical definition, and genotype-phenotype correlations as a strategy for molecular diagnosis. 56 6
15024725 2004
3
Leber congenital amaurosis and retinitis pigmentosa with Coats-like exudative vasculopathy are associated with mutations in the crumbs homologue 1 (CRB1) gene. 56 6
11389483 2001
4
Mutations in the CRB1 gene cause Leber congenital amaurosis. 56 6
11231775 2001
5
Leber Congenital Amaurosis 61 6
20301475 2004
6
Leber Congenital Amaurosis / Early-Onset Severe Retinal Dystrophy Overview 6
30285347 2018
7
Autozygome-guided exome sequencing in retinal dystrophy patients reveals pathogenetic mutations and novel candidate disease genes. 6
23105016 2013
8
Genetics and molecular basis of human peroxisome biogenesis disorders. 6
22871920 2012
9
Leber congenital amaurosis: clinical correlations with genotypes, gene therapy trials update, and future directions. 56
20006823 2009
10
Genetic heterogeneity in two consanguineous families segregating early onset retinal degeneration: the pitfalls of homozygosity mapping. 6
19140180 2009
11
A novel mutation disrupting the cytoplasmic domain of CRB1 in a large consanguineous family of Palestinian origin affected with Leber congenital amaurosis. 6
12567265 2002
12
Mutations in a human homologue of Drosophila crumbs cause retinitis pigmentosa (RP12). 6
10508521 1999
13
Mutations in PEX1 in peroxisome biogenesis disorders: G843D and a mild clinical phenotype. 6
10384394 1999
14
Mutations in PEX1 are the most common cause of peroxisome biogenesis disorders. 6
9398847 1997
15
Human PEX1 is mutated in complementation group 1 of the peroxisome biogenesis disorders. 6
9398848 1997
16
Targeted deletion of Crb1/Crb2 in the optic vesicle models key features of leber congenital amaurosis 8. 61
31145883 2019
17
Neonatal disease environment limits the efficacy of retinal transplantation in the LCA8 mouse model. 61
27809828 2016
18
Novel nonsense and splice site mutations in CRB1 gene in two Japanese patients with early-onset retinal dystrophy. 61
25323024 2015
19
Genetic ablation of Pals1 in retinal progenitor cells models the retinal pathology of Leber congenital amaurosis. 61
22398208 2012

Variations for Leber Congenital Amaurosis 8

ClinVar genetic disease variations for Leber Congenital Amaurosis 8:

6 (show all 32) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 CRB1 NM_201253.3(CRB1):c.2234C>T (p.Thr745Met)SNV Pathogenic 5733 rs28939720 1:197396689-197396689 1:197427559-197427559
2 CRB1 NM_201253.3(CRB1):c.3299T>G (p.Ile1100Arg)SNV Pathogenic 5734 rs62635659 1:197404292-197404292 1:197435162-197435162
3 CRB1 NM_201253.3(CRB1):c.3997G>T (p.Glu1333Ter)SNV Pathogenic 5735 rs137853136 1:197411414-197411414 1:197442284-197442284
4 CRB1 NM_201253.3(CRB1):c.2401A>T (p.Lys801Ter)SNV Pathogenic 5736 rs137853137 1:197396856-197396856 1:197427726-197427726
5 CRB1 NM_201253.3(CRB1):c.3307G>A (p.Gly1103Arg)SNV Pathogenic 5739 rs62636275 1:197404300-197404300 1:197435170-197435170
6 CRB1 NM_201253.3(CRB1):c.4121_4130del (p.Ala1374fs)deletion Pathogenic 5740 rs281865175 1:197446905-197446914 1:197477775-197477784
7 CRB1 NM_201253.3(CRB1):c.2843G>A (p.Cys948Tyr)SNV Pathogenic 39614 rs62645748 1:197403836-197403836 1:197434706-197434706
8 CRB1 NM_201253.3(CRB1):c.998G>A (p.Gly333Asp)SNV Pathogenic 156384 rs587783015 1:197325970-197325970 1:197356840-197356840
9 CRB1 NM_201253.3(CRB1):c.2555T>C (p.Ile852Thr)SNV Pathogenic 99883 rs62636271 1:197397010-197397010 1:197427880-197427880
10 CRB1 NM_201253.3(CRB1):c.2688T>A (p.Cys896Ter)SNV Pathogenic 99888 rs62636273 1:197398590-197398590 1:197429460-197429460
11 CRB1 NM_201253.3(CRB1):c.1576C>T (p.Arg526Ter)SNV Pathogenic 143167 rs114342808 1:197390534-197390534 1:197421404-197421404
12 CRB1 NM_201253.3(CRB1):c.2548G>A (p.Gly850Ser)SNV Pathogenic 565382 rs776591659 1:197397003-197397003 1:197427873-197427873
13 CRB1 NM_201253.3(CRB1):c.70+1G>ASNV Pathogenic 587387 rs1237424465 1:197237613-197237613 1:197268483-197268483
14 CRB1 NM_201253.3(CRB1):c.410del (p.Pro137fs)deletion Pathogenic 587386 rs1558057153 1:197297889-197297889 1:197328759-197328759
15 CRB1 NM_201253.3(CRB1):c.2072G>A (p.Trp691Ter)SNV Pathogenic 587388 rs1558127317 1:197391030-197391030 1:197421900-197421900
16 CRB1 NM_201253.3(CRB1):c.4039del (p.Thr1347fs)deletion Pathogenic 587385 rs745422941 1:197446827-197446827 1:197477697-197477697
17 CRB1 NM_201253.3(CRB1):c.2425C>T (p.Gln809Ter)SNV Pathogenic 647091 1:197396880-197396880 1:197427750-197427750
18 CRB1 NM_201253.3(CRB1):c.3037C>T (p.Gln1013Ter)SNV Pathogenic 660235 1:197404030-197404030 1:197434900-197434900
19 CRB1 NM_201253.3(CRB1):c.4168C>T (p.Arg1390Ter)SNV Pathogenic 659686 1:197446956-197446956 1:197477826-197477826
20 CRB1 NC_000001.10:g.(?_197237324)_(197237622_?)deldeletion Pathogenic 646396 1:197237324-197237622 1:197268194-197268492
21 CRB1 NM_201253.3(CRB1):c.437_440AGAT[1] (p.Asp148fs)short repeat Pathogenic 662920 1:197297918-197297921 1:197328788-197328791
22 CRB1 NM_201253.3(CRB1):c.1438T>C (p.Cys480Arg)SNV Pathogenic/Likely pathogenic 99870 rs62636264 1:197390396-197390396 1:197421266-197421266
23 CRB1 NM_201253.3(CRB1):c.1892A>G (p.Tyr631Cys)SNV Likely pathogenic 636015 1:197390850-197390850 1:197421720-197421720
24 CRB1 NM_201253.3(CRB1):c.2389T>C (p.Ser797Pro)SNV Likely pathogenic 522783 rs1355198242 1:197396844-197396844 1:197427714-197427714
25 CRB1 NM_201253.3(CRB1):c.1043G>A (p.Cys348Tyr)SNV Likely pathogenic 265984 rs886039871 1:197326015-197326015 1:197356885-197356885
26 CRB1 NM_201253.3(CRB1):c.2714G>A (p.Arg905Gln)SNV Conflicting interpretations of pathogenicity 225327 rs114052315 1:197398616-197398616 1:197429486-197429486
27 CRB1 NM_201253.3(CRB1):c.498_506del (p.Ile167_Gly169del)deletion Conflicting interpretations of pathogenicity 96659 rs398124615 1:197297974-197297982 1:197328844-197328852
28 CRB1 NM_201253.3(CRB1):c.2681A>G (p.Asn894Ser)SNV Uncertain significance 99887 rs62636290 1:197398583-197398583 1:197429453-197429453
29 CRB1 NM_201253.3(CRB1):c.2380C>A (p.His794Asn)SNV Uncertain significance 471782 rs1294237377 1:197396835-197396835 1:197427705-197427705
30 CRB1 NM_201253.3(CRB1):c.2405C>T (p.Pro802Leu)SNV Uncertain significance 578182 rs1558132026 1:197396860-197396860 1:197427730-197427730
31 CRB1 NM_201253.3(CRB1):c.2798G>A (p.Cys933Tyr)SNV Uncertain significance 587384 rs1558133731 1:197398700-197398700 1:197429570-197429570
32 CRB1 NM_201253.3(CRB1):c.1783G>T (p.Ala595Ser)SNV Uncertain significance 642023 1:197390741-197390741 1:197421611-197421611

UniProtKB/Swiss-Prot genetic disease variations for Leber Congenital Amaurosis 8:

73 (show all 36)
# Symbol AA change Variation ID SNP ID
1 CRB1 p.Thr745Met VAR_011643 rs28939720
2 CRB1 p.Arg764Cys VAR_011644 rs62635654
3 CRB1 p.Cys948Tyr VAR_011645 rs62645748
4 CRB1 p.Ile1100Arg VAR_011648 rs62635659
5 CRB1 p.Phe144Val VAR_022941 rs62636262
6 CRB1 p.Cys383Tyr VAR_022946 rs62645754
7 CRB1 p.Cys480Gly VAR_022948
8 CRB1 p.Cys480Arg VAR_022949 rs62636264
9 CRB1 p.Asp584Tyr VAR_022951
10 CRB1 p.Cys681Tyr VAR_022954 rs62636266
11 CRB1 p.Glu710Gln VAR_022955 rs62645755
12 CRB1 p.Met741Thr VAR_022956 rs62636267
13 CRB1 p.Gly850Ser VAR_022963 rs776591659
14 CRB1 p.Ile852Thr VAR_022964 rs62636271
15 CRB1 p.Ile989Thr VAR_022971
16 CRB1 p.Ser1025Ile VAR_022972 rs62636274
17 CRB1 p.Gly1103Arg VAR_022974 rs62636275
18 CRB1 p.Leu1107Pro VAR_022975 rs62636276
19 CRB1 p.Leu1107Arg VAR_022976 rs62636276
20 CRB1 p.Gly1205Arg VAR_022977 rs574742644
21 CRB1 p.Cys1218Phe VAR_022978
22 CRB1 p.Asn1317His VAR_022979 rs62636281
23 CRB1 p.Cys1321Ser VAR_022980 rs62635649
24 CRB1 p.Gly333Asp VAR_067131 rs587783015
25 CRB1 p.Cys438Tyr VAR_067132
26 CRB1 p.Gly454Arg VAR_067133 rs954595597
27 CRB1 p.Leu535Pro VAR_067136 rs113082791
28 CRB1 p.Asp564Tyr VAR_067137
29 CRB1 p.Leu753Pro VAR_067142 rs896160584
30 CRB1 p.Cys939Tyr VAR_067147 rs141134598
31 CRB1 p.Ile1003Thr VAR_067148 rs140974054
32 CRB1 p.Tyr1161Cys VAR_067152 rs141470791
33 CRB1 p.Cys1174Gly VAR_067153 rs917768074
34 CRB1 p.Cys1332Phe VAR_067157 rs377543137
35 CRB1 p.Pro1381Leu VAR_067159
36 CRB1 p.Cys948Arg VAR_079626 rs62645747

Expression for Leber Congenital Amaurosis 8

Search GEO for disease gene expression data for Leber Congenital Amaurosis 8.

Pathways for Leber Congenital Amaurosis 8

Pathways related to Leber Congenital Amaurosis 8 according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1 10.99 MPP5 CRB2 CRB1

GO Terms for Leber Congenital Amaurosis 8

Cellular components related to Leber Congenital Amaurosis 8 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 apical plasma membrane GO:0016324 9.43 MPP5 CRB2 CRB1
2 photoreceptor connecting cilium GO:0032391 9.16 SPATA7 LCA5
3 photoreceptor outer segment GO:0001750 9.13 TULP1 SPATA7 GUCY2D
4 photoreceptor inner segment GO:0001917 8.92 TULP1 RDH12 CRB1 AIPL1

Biological processes related to Leber Congenital Amaurosis 8 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 response to stimulus GO:0050896 9.55 TULP1 SPATA7 RDH12 GUCY2D AIPL1
2 heterophilic cell-cell adhesion via plasma membrane cell adhesion molecules GO:0007157 9.48 CRB2 CRB1
3 retina homeostasis GO:0001895 9.46 TULP1 AIPL1
4 regulation of rhodopsin mediated signaling pathway GO:0022400 9.43 GUCY2D AIPL1
5 establishment or maintenance of epithelial cell apical/basal polarity GO:0045197 9.4 CRB2 CRB1
6 eye photoreceptor cell development GO:0042462 9.37 TULP1 CRB1
7 visual perception GO:0007601 9.35 TULP1 SPATA7 RDH12 GUCY2D AIPL1
8 plasma membrane organization GO:0007009 9.32 MPP5 CRB1
9 protein localization to photoreceptor outer segment GO:1903546 9.26 TULP1 SPATA7
10 photoreceptor cell maintenance GO:0045494 8.92 TULP1 SPATA7 RDH12 LCA5

Sources for Leber Congenital Amaurosis 8

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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