LCA11
MCID: LBR006
MIFTS: 39

Leber Congenital Amaurosis 11 (LCA11)

Categories: Eye diseases, Genetic diseases, Neuronal diseases
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Aliases & Classifications for Leber Congenital Amaurosis 11

MalaCards integrated aliases for Leber Congenital Amaurosis 11:

Name: Leber Congenital Amaurosis 11 57 11 73 28 5 43 14 71
Lca11 57 11 73
Leber Congenital Amaurosis, Type 11 38

Characteristics:


Inheritance:

Autosomal dominant 57

OMIM®:

57 (Updated 08-Dec-2022)
Miscellaneous:
based on report of 2 unrelated patients (last curated january 2019)
onset within the first few years of life


Classifications:



External Ids:

Disease Ontology 11 DOID:0110216
OMIM® 57 613837
OMIM Phenotypic Series 57 PS204000
ICD10 31 H35.5
MedGen 40 C1840284
UMLS 71 C1840284

Summaries for Leber Congenital Amaurosis 11

OMIM®: 57 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. (613837) (Updated 08-Dec-2022)

MalaCards based summary: Leber Congenital Amaurosis 11, also known as lca11, is related to severe early-childhood-onset retinal dystrophy and cone-rod dystrophy 17. An important gene associated with Leber Congenital Amaurosis 11 is IMPDH1 (Inosine Monophosphate Dehydrogenase 1), and among its related pathways/superpathways are Ciliary landscape and Ciliopathies. Affiliated tissues include retina and eye, and related phenotypes are nystagmus and visual impairment

UniProtKB/Swiss-Prot: 73 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.

Disease Ontology: 11 A Leber congenital amaurosis that has material basis in mutation n the IMPDH1 gene on chromosome 7q31.3-q32.

Related Diseases for Leber Congenital Amaurosis 11

Diseases in the Leber Congenital Amaurosis 4 family:

Leber Congenital Amaurosis 1 Leber Congenital Amaurosis 2
Leber Congenital Amaurosis 3 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 11 via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 62)
# Related Disease Score Top Affiliating Genes
1 severe early-childhood-onset retinal dystrophy 10.1 SPATA7 LCA5
2 cone-rod dystrophy 17 10.0 GUCY2D AIPL1
3 cone-rod dystrophy 13 10.0 SPATA7 IQCB1
4 retinitis pigmentosa 38 10.0 GUCY2D AIPL1
5 chorioretinal scar 10.0 RDH12 CRB1
6 gapo syndrome 9.9 CRB1 AIPL1
7 retinitis pigmentosa 12 9.9 CRB1 AIPL1
8 microphthalmia, isolated 6 9.9 IQCB1 CRB1
9 vitreous syneresis 9.9 KCNJ13 CRB1
10 enophthalmos 9.9 GUCY2D CRB1
11 choroid disease 9.8 GUCY2D CRB1
12 usher syndrome, type iia 9.8 CRB1 AIPL1
13 refractive error 9.8 GUCY2D CRB1
14 hereditary retinal dystrophy 9.8 SPATA7 GUCY2D CRB1
15 nephronophthisis 9.8 SPATA7 LCA5 IQCB1
16 pigmented paravenous chorioretinal atrophy 9.7 GUCY2D CRB1 AIPL1
17 enhanced s-cone syndrome 9.7 GUCY2D CRB1 AIPL1
18 choroidal dystrophy, central areolar, 1 9.7 GUCY2D CRB1 AIPL1
19 color blindness 9.7 GUCY2D CRB1 AIPL1
20 retinoschisis 1, x-linked, juvenile 9.7 GUCY2D CRB1 AIPL1
21 vitelliform macular dystrophy 9.7 GUCY2D CRB1
22 physical disorder 9.7 GUCY2D CRB1 AIPL1
23 retinitis 9.6 TULP1 IMPDH1 CRB1
24 pseudoretinitis pigmentosa 9.6 TULP1 IMPDH1 CRB1
25 stargardt disease 1 9.6 TULP1 RDH12 CRB1
26 pseudopapilledema 9.6 RDH12 GUCY2D CRB1 AIPL1
27 nanophthalmos 9.4 TULP1 CRB1
28 leber congenital amaurosis 1 9.4 TULP1 LCA5 GUCY2D CRB1
29 night blindness 9.4 TULP1 RDH12 GUCY2D CRB1
30 blood group, globoside system 9.4 TULP1 RDH12 CRB1 AIPL1
31 fundus albipunctatus 9.4 TULP1 RDH12 GUCY2D CRB1
32 late-onset retinal degeneration 9.3 TULP1 GUCY2D CRB1 AIPL1
33 leber congenital amaurosis 7 9.3 SPATA7 RDH12 LCA5 GUCY2D CRB1 AIPL1
34 leber congenital amaurosis 12 9.2 SPATA7 LCA5 KCNJ13 IQCB1 GUCY2D AIPL1
35 coloboma of macula 9.2 RDH12 LCA5 IQCB1 GUCY2D CRB1 AIPL1
36 eye disease 8.9 TULP1 RDH12 IQCB1 GUCY2D CRB1 AIPL1
37 leber congenital amaurosis 14 8.9 TULP1 SPATA7 RDH12 LCA5 KCNJ13 IQCB1
38 leber congenital amaurosis 2 8.8 TULP1 SPATA7 RDH12 LCA5 GUCY2D CRB1
39 retinal degeneration 8.8 TULP1 SPATA7 RDH12 IMPDH1 GUCY2D CRB1
40 eye degenerative disease 8.8 TULP1 RDH12 IQCB1 IMPDH1 GUCY2D CRB1
41 stargardt disease 8.7 TULP1 SPATA7 RDH12 IQCB1 GUCY2D CRB1
42 leber congenital amaurosis 13 8.7 TULP1 SPATA7 RDH12 LCA5 KCNJ13 IQCB1
43 leber congenital amaurosis 8 8.7 TULP1 SPATA7 RDH12 LCA5 IMPDH1 GUCY2D
44 leber congenital amaurosis 6 8.7 TULP1 SPATA7 RDH12 LCA5 IMPDH1 GUCY2D
45 leber congenital amaurosis 9 8.7 TULP1 SPATA7 RDH12 LCA5 IMPDH1 GUCY2D
46 congenital stationary night blindness 8.6 TULP1 RDH12 LCA5 IQCB1 IMPDH1 GUCY2D
47 achromatopsia 8.6 TULP1 SPATA7 RDH12 LCA5 IQCB1 GUCY2D
48 cone dystrophy 8.6 TULP1 SPATA7 RDH12 LCA5 IQCB1 GUCY2D
49 bardet-biedl syndrome 8.6 TULP1 SPATA7 RDH12 LCA5 IQCB1 GUCY2D
50 leber congenital amaurosis 15 8.5 TULP1 SPATA7 RDH12 LCA5 KCNJ13 IQCB1

Graphical network of the top 20 diseases related to Leber Congenital Amaurosis 11:



Diseases related to Leber Congenital Amaurosis 11

Symptoms & Phenotypes for Leber Congenital Amaurosis 11

Human phenotypes related to Leber Congenital Amaurosis 11:

30
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 nystagmus 30 HP:0000639
2 visual impairment 30 HP:0000505
3 reduced visual acuity 30 HP:0007663

Symptoms via clinical synopsis from OMIM®:

57 (Updated 08-Dec-2022)
Head And Neck Eyes:
nystagmus
reduced visual acuity
reduced night vision
reduced peripheral vision
diffuse mottling of retinal pigment epithelium

Clinical features from OMIM®:

613837 (Updated 08-Dec-2022)

MGI Mouse Phenotypes related to Leber Congenital Amaurosis 11:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 nervous system MP:0003631 9.5 AIPL1 CRB1 GUCY2D LCA5 RDH12 SPATA7
2 vision/eye MP:0005391 9.28 AIPL1 CRB1 GUCY2D IMPDH1 IQCB1 LCA5

Drugs & Therapeutics for Leber Congenital Amaurosis 11

Search Clinical Trials, NIH Clinical Center for Leber Congenital Amaurosis 11

Cochrane evidence based reviews: leber congenital amaurosis 11

Genetic Tests for Leber Congenital Amaurosis 11

Genetic tests related to Leber Congenital Amaurosis 11:

# Genetic test Affiliating Genes
1 Leber Congenital Amaurosis 11 28 IMPDH1

Anatomical Context for Leber Congenital Amaurosis 11

Organs/tissues related to Leber Congenital Amaurosis 11:

MalaCards : Retina, Eye

Publications for Leber Congenital Amaurosis 11

Articles related to Leber Congenital Amaurosis 11:

# Title Authors PMID Year
1
Spectrum and frequency of mutations in IMPDH1 associated with autosomal dominant retinitis pigmentosa and leber congenital amaurosis. 57 5
16384941 2006
2
Leber congenital amaurosis: clinical correlations with genotypes, gene therapy trials update, and future directions. 57
20006823 2009
3
Discovering candidate imprinted genes and imprinting control regions in the human genome. 62
32475352 2020
4
[Genotype screening of retinal dystrophies in the Japanese population using a microarray]. 62
23424971 2013
5
Leber Congenital Amaurosis – RETIRED CHAPTER, FOR HISTORICAL REFERENCE ONLY 62
20301475 2004

Variations for Leber Congenital Amaurosis 11

ClinVar genetic disease variations for Leber Congenital Amaurosis 11:

5 (show top 50) (show all 80)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 IMPDH1 NM_000883.4(IMPDH1):c.849T>G (p.Asn283Lys) SNV Pathogenic
14838 rs121912554 GRCh37: 7:128040174-128040174
GRCh38: 7:128400120-128400120
2 IMPDH1 NM_000883.4(IMPDH1):c.928A>C (p.Thr310Pro) SNV Likely Pathogenic
374177 rs1057518949 GRCh37: 7:128038614-128038614
GRCh38: 7:128398560-128398560
3 IMPDH1 NM_000883.4(IMPDH1):c.1714G>C (p.Glu572Gln) SNV Uncertain Significance
194611 rs150628823 GRCh37: 7:128034396-128034396
GRCh38: 7:128394342-128394342
4 IMPDH1 NM_000883.4(IMPDH1):c.71G>C (p.Arg24Pro) SNV Uncertain Significance
813046 rs946898300 GRCh37: 7:128049885-128049885
GRCh38: 7:128409831-128409831
5 IMPDH1 NM_000883.4(IMPDH1):c.1030C>T (p.Arg344Cys) SNV Uncertain Significance
450043 rs370988040 GRCh37: 7:128038512-128038512
GRCh38: 7:128398458-128398458
6 IMPDH1 NM_000883.4(IMPDH1):c.1433C>T (p.Thr478Ile) SNV Uncertain Significance
560464 rs564132747 GRCh37: 7:128035060-128035060
GRCh38: 7:128395006-128395006
7 IMPDH1 NM_000883.4(IMPDH1):c.568C>T (p.Arg190Trp) SNV Uncertain Significance
14837 rs121912553 GRCh37: 7:128040882-128040882
GRCh38: 7:128400828-128400828
8 IMPDH1 NM_000883.4(IMPDH1):c.146+9C>T SNV Uncertain Significance
358880 rs749118285 GRCh37: 7:128049801-128049801
GRCh38: 7:128409747-128409747
9 IMPDH1 NM_000883.4(IMPDH1):c.*259G>A SNV Uncertain Significance
358863 rs535964010 GRCh37: 7:128032802-128032802
GRCh38: 7:128392748-128392748
10 IMPDH1 NM_000883.4(IMPDH1):c.*231C>G SNV Uncertain Significance
358866 rs1042267 GRCh37: 7:128032830-128032830
GRCh38: 7:128392776-128392776
11 IMPDH1 NM_000883.4(IMPDH1):c.1350C>T (p.Gly450=) SNV Uncertain Significance
358874 rs780213373 GRCh37: 7:128035240-128035240
GRCh38: 7:128395186-128395186
12 IMPDH1 NM_000883.4(IMPDH1):c.-59G>A SNV Uncertain Significance
358881 rs886061985 GRCh37: 7:128050014-128050014
GRCh38: 7:128409960-128409960
13 IMPDH1 NM_000883.4(IMPDH1):c.769A>G (p.Thr257Ala) SNV Uncertain Significance
358878 rs144659635 GRCh37: 7:128040404-128040404
GRCh38: 7:128400350-128400350
14 IMPDH1 NM_000883.4(IMPDH1):c.1653C>T (p.His551=) SNV Uncertain Significance
358872 rs147882304 GRCh37: 7:128034551-128034551
GRCh38: 7:128394497-128394497
15 IMPDH1 NM_000883.4(IMPDH1):c.1338C>T (p.Ile446=) SNV Uncertain Significance
358875 rs199623010 GRCh37: 7:128035252-128035252
GRCh38: 7:128395198-128395198
16 IMPDH1 NM_000883.4(IMPDH1):c.888C>T (p.Ile296=) SNV Uncertain Significance
358877 rs72624957 GRCh37: 7:128038654-128038654
GRCh38: 7:128398600-128398600
17 IMPDH1 NM_000883.4(IMPDH1):c.336C>T (p.Ala112=) SNV Uncertain Significance
197169 rs547740249 GRCh37: 7:128045838-128045838
GRCh38: 7:128405784-128405784
18 IMPDH1 NM_000883.4(IMPDH1):c.1108G>A (p.Ala370Thr) SNV Uncertain Significance
Likely Benign
193819 rs72624961 GRCh37: 7:128037043-128037043
GRCh38: 7:128396989-128396989
19 IMPDH1 NM_000883.4(IMPDH1):c.1589G>A (p.Gly530Asp) SNV Uncertain Significance
909033 rs756992593 GRCh37: 7:128034615-128034615
GRCh38: 7:128394561-128394561
20 IMPDH1 NM_000883.4(IMPDH1):c.930C>T (p.Thr310=) SNV Uncertain Significance
772300 rs150531977 GRCh37: 7:128038612-128038612
GRCh38: 7:128398558-128398558
21 IMPDH1 NM_000883.4(IMPDH1):c.841G>C (p.Glu281Gln) SNV Uncertain Significance
855604 rs145014241 GRCh37: 7:128040182-128040182
GRCh38: 7:128400128-128400128
22 IMPDH1 NM_000883.4(IMPDH1):c.1280C>T (p.Pro427Leu) SNV Uncertain Significance
910797 rs763999626 GRCh37: 7:128035310-128035310
GRCh38: 7:128395256-128395256
23 IMPDH1 NM_000883.4(IMPDH1):c.1226G>A (p.Gly409Asp) SNV Uncertain Significance
910798 rs375914533 GRCh37: 7:128036689-128036689
GRCh38: 7:128396635-128396635
24 IMPDH1 NM_000883.4(IMPDH1):c.1142A>G (p.His381Arg) SNV Uncertain Significance
707014 rs61751223 GRCh37: 7:128037009-128037009
GRCh38: 7:128396955-128396955
25 IMPDH1 NM_000883.4(IMPDH1):c.561C>T (p.Asn187=) SNV Uncertain Significance
910850 rs1042250 GRCh37: 7:128040889-128040889
GRCh38: 7:128400835-128400835
26 IMPDH1 NM_000883.4(IMPDH1):c.443C>T (p.Thr148Met) SNV Uncertain Significance
857776 rs150278198 GRCh37: 7:128041130-128041130
GRCh38: 7:128401076-128401076
27 IMPDH1 NM_000883.4(IMPDH1):c.1668C>T (p.Ile556=) SNV Uncertain Significance
711446 rs201803921 GRCh37: 7:128034536-128034536
GRCh38: 7:128394482-128394482
28 IMPDH1 NM_000883.4(IMPDH1):c.1662G>A (p.Gln554=) SNV Uncertain Significance
729916 rs139785999 GRCh37: 7:128034542-128034542
GRCh38: 7:128394488-128394488
29 IMPDH1 NM_000883.4(IMPDH1):c.255-10C>T SNV Uncertain Significance
912068 rs1478038443 GRCh37: 7:128045929-128045929
GRCh38: 7:128405875-128405875
30 IMPDH1 NM_000883.4(IMPDH1):c.189A>G (p.Ser63=) SNV Uncertain Significance
767199 rs143796089 GRCh37: 7:128049496-128049496
GRCh38: 7:128409442-128409442
31 IMPDH1 NM_000883.4(IMPDH1):c.1598A>G (p.Gln533Arg) SNV Uncertain Significance
636175 rs144498273 GRCh37: 7:128034606-128034606
GRCh38: 7:128394552-128394552
32 IMPDH1 NM_000883.4(IMPDH1):c.*202C>T SNV Uncertain Significance
358869 rs886061982 GRCh37: 7:128032859-128032859
GRCh38: 7:128392805-128392805
33 IMPDH1 NM_000883.4(IMPDH1):c.*631C>T SNV Uncertain Significance
358859 rs760544024 GRCh37: 7:128032430-128032430
GRCh38: 7:128392376-128392376
34 IMPDH1 NM_000883.4(IMPDH1):c.*223C>G SNV Uncertain Significance
358868 rs543042380 GRCh37: 7:128032838-128032838
GRCh38: 7:128392784-128392784
35 IMPDH1 NM_000883.4(IMPDH1):c.*321G>A SNV Uncertain Significance
358862 rs571536404 GRCh37: 7:128032740-128032740
GRCh38: 7:128392686-128392686
36 IMPDH1 NM_000883.4(IMPDH1):c.*258C>T SNV Uncertain Significance
358864 rs886061981 GRCh37: 7:128032803-128032803
GRCh38: 7:128392749-128392749
37 IMPDH1 NM_000883.4(IMPDH1):c.1704G>A (p.Met568Ile) SNV Uncertain Significance
358871 rs886061984 GRCh37: 7:128034406-128034406
GRCh38: 7:128394352-128394352
38 IMPDH1 NM_000883.4(IMPDH1):c.737G>A (p.Arg246Gln) SNV Uncertain Significance
358879 rs201071873 GRCh37: 7:128040436-128040436
GRCh38: 7:128400382-128400382
39 IMPDH1 NM_000883.4(IMPDH1):c.*256T>C SNV Uncertain Significance
358865 rs752294619 GRCh37: 7:128032805-128032805
GRCh38: 7:128392751-128392751
40 IMPDH1, LOC107986845 NM_000883.4(IMPDH1):c.*722C>T SNV Uncertain Significance
358857 rs886061980 GRCh37: 7:128032339-128032339
GRCh38: 7:128392285-128392285
41 IMPDH1 NM_000883.4(IMPDH1):c.*105T>A SNV Uncertain Significance
358870 rs886061983 GRCh37: 7:128032956-128032956
GRCh38: 7:128392902-128392902
42 IMPDH1 NM_000883.4(IMPDH1):c.*321G>T SNV Uncertain Significance
358861 rs571536404 GRCh37: 7:128032740-128032740
GRCh38: 7:128392686-128392686
43 IMPDH1 NM_000883.4(IMPDH1):c.-13C>T SNV Uncertain Significance
908060 rs1373186956 GRCh37: 7:128049968-128049968
GRCh38: 7:128409914-128409914
44 IMPDH1 NM_000883.4(IMPDH1):c.-17T>C SNV Uncertain Significance
908061 rs1799034671 GRCh37: 7:128049972-128049972
GRCh38: 7:128409918-128409918
45 IMPDH1, LOC107986845 NM_000883.4(IMPDH1):c.*694C>A SNV Uncertain Significance
908908 rs1179467429 GRCh37: 7:128032367-128032367
GRCh38: 7:128392313-128392313
46 IMPDH1 NM_000883.4(IMPDH1):c.*642G>A SNV Uncertain Significance
908909 rs574318258 GRCh37: 7:128032419-128032419
GRCh38: 7:128392365-128392365
47 IMPDH1 NM_000883.4(IMPDH1):c.*223C>T SNV Uncertain Significance
908976 rs543042380 GRCh37: 7:128032838-128032838
GRCh38: 7:128392784-128392784
48 IMPDH1 NM_000883.4(IMPDH1):c.*223C>A SNV Uncertain Significance
908977 rs543042380 GRCh37: 7:128032838-128032838
GRCh38: 7:128392784-128392784
49 IMPDH1 NM_000883.4(IMPDH1):c.1573G>T (p.Ala525Ser) SNV Uncertain Significance
909034 rs367951647 GRCh37: 7:128034631-128034631
GRCh38: 7:128394577-128394577
50 IMPDH1 NM_000883.4(IMPDH1):c.795G>A (p.Thr265=) SNV Uncertain Significance
909095 rs757423102 GRCh37: 7:128040228-128040228
GRCh38: 7:128400174-128400174

UniProtKB/Swiss-Prot genetic disease variations for Leber Congenital Amaurosis 11:

73
# Symbol AA change Variation ID SNP ID
1 IMPDH1 p.Arg105Trp VAR_065616
2 IMPDH1 p.Asn198Lys VAR_065618

Expression for Leber Congenital Amaurosis 11

Search GEO for disease gene expression data for Leber Congenital Amaurosis 11.

Pathways for Leber Congenital Amaurosis 11

Pathways related to Leber Congenital Amaurosis 11 according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1 11.66 SPATA7 LCA5 IQCB1
2 10.97 TULP1 SPATA7 LCA5 IQCB1
3 10.32 RDH12 GUCY2D

GO Terms for Leber Congenital Amaurosis 11

Cellular components related to Leber Congenital Amaurosis 11 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 cell projection GO:0042995 9.73 TULP1 SPATA7 LCA5 GUCY2D CRB1
2 photoreceptor connecting cilium GO:0032391 9.63 SPATA7 LCA5 IQCB1
3 photoreceptor inner segment GO:0001917 9.56 TULP1 RDH12 CRB1 AIPL1
4 photoreceptor outer segment GO:0001750 9.28 TULP1 SPATA7 IQCB1 GUCY2D CRB1

Biological processes related to Leber Congenital Amaurosis 11 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 retina homeostasis GO:0001895 9.73 TULP1 AIPL1
2 detection of light stimulus involved in visual perception GO:0050908 9.71 TULP1 CRB1
3 visual perception GO:0007601 9.7 TULP1 SPATA7 RDH12 GUCY2D CRB1 AIPL1
4 eye photoreceptor cell development GO:0042462 9.67 TULP1 CRB1
5 response to stimulus GO:0050896 9.63 AIPL1 GUCY2D RDH12 SPATA7 TULP1
6 regulation of rhodopsin mediated signaling pathway GO:0022400 9.62 GUCY2D AIPL1
7 protein localization to photoreceptor outer segment GO:1903546 9.56 TULP1 SPATA7
8 photoreceptor cell maintenance GO:0045494 9.4 TULP1 SPATA7 RDH12 LCA5 IQCB1 CRB1

Sources for Leber Congenital Amaurosis 11

2 CDC
6 CNVD
8 Cosmic
9 dbSNP
10 DGIdb
16 EFO
17 ExPASy
18 FMA
19 GARD
27 GO
28 GTR
29 HMDB
30 HPO
31 ICD10
32 ICD10 via Orphanet
33 ICD11
34 ICD9CM
35 IUPHAR
36 LifeMap
38 LOVD
40 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
52 NINDS
53 Novoseek
55 ODiseA
56 OMIM via Orphanet
57 OMIM® (Updated 08-Dec-2022)
61 PubChem
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 Tocris
71 UMLS
72 UMLS via Orphanet
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