LCA14
MCID: LBR009
MIFTS: 43

Leber Congenital Amaurosis 14 (LCA14)

Categories: Eye diseases, Genetic diseases, Neuronal diseases
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Aliases & Classifications for Leber Congenital Amaurosis 14

MalaCards integrated aliases for Leber Congenital Amaurosis 14:

Name: Leber Congenital Amaurosis 14 57 11 73 28 12 5 43 14 71
Lca14 57 11 73
Retinitis Pigmentosa, Juvenile, Lrat-Related 28 5
Retinal Dystrophy, Early-Onset Severe, Lrat-Related 5
Severe Early-Onset Retinal Dystrophy Lrat-Related 73
Retinitis Pigmentosa Juvenile Lrat-Related 73
Retinal Dystrophy, Early-Onset Severe 57
Leber Congenital Amaurosis, Type 14 38
Retinitis Pigmentosa, Juvenile 57

Characteristics:


Inheritance:

Autosomal recessive 57

OMIM®:

57 (Updated 08-Dec-2022)
Miscellaneous:
ocular phenotype falls within a spectrum of retinal dystrophy from severe, leber congenital amaurosis, to less severe, juvenile retinitis pigmentosa


Classifications:



External Ids:

Disease Ontology 11 DOID:0110188
OMIM® 57 613341
OMIM Phenotypic Series 57 PS204000
ICD10 31 H35.5
UMLS 71 C2750063

Summaries for Leber Congenital Amaurosis 14

OMIM®: 57 Autosomal recessive childhood-onset severe retinal dystrophy is a heterogeneous group of disorders affecting rod and cone photoreceptors simultaneously. The most severe cases are termed Leber congenital amaurosis, whereas the less aggressive forms are usually considered juvenile retinitis pigmentosa (Gu et al., 1997). For a general phenotypic description and a discussion of genetic heterogeneity of Leber congenital amaurosis, see LCA1 (204000); for retinitis pigmentosa, see 268000. (613341) (Updated 08-Dec-2022)

MalaCards based summary: Leber Congenital Amaurosis 14, also known as lca14, is related to stargardt disease 1 and severe early-childhood-onset retinal dystrophy, and has symptoms including photophobia An important gene associated with Leber Congenital Amaurosis 14 is LRAT (Lecithin Retinol Acyltransferase), and among its related pathways/superpathways are Visual phototransduction and Ciliary landscape. Affiliated tissues include retina, eye and bone, and related phenotypes are nystagmus and photophobia

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 in the LRAT gene on chromosome 4q31.

Related Diseases for Leber Congenital Amaurosis 14

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 14 via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 53)
# Related Disease Score Top Affiliating Genes
1 stargardt disease 1 32.4 TULP1 RDH12
2 severe early-childhood-onset retinal dystrophy 31.8 SPATA7 RPE65 LRAT LCA5
3 leber congenital amaurosis 4 30.0 TULP1 SPATA7 RPE65 RDH12 LRAT LCA5
4 retinal dystrophy, juvenile cataracts, and short stature syndrome 11.5
5 retinitis pigmentosa 14 11.2
6 hereditary retinal dystrophy 10.1 SPATA7 RPE65
7 degeneration of macula and posterior pole 10.0 RPE65 LRAT
8 microphthalmia, syndromic 9 10.0 RDH12 LRAT
9 gyrate atrophy of choroid and retina 10.0 RPE65 RDH12
10 enhanced s-cone syndrome 9.9 RPE65 AIPL1
11 choroidal dystrophy, central areolar, 1 9.9 RPE65 AIPL1
12 color blindness 9.9 RPE65 AIPL1
13 cone-rod dystrophy 13 9.9 SPATA7 IQCB1
14 nanophthalmos 9.9 TULP1 RPE65
15 retinoschisis 1, x-linked, juvenile 9.8 RPE65 AIPL1
16 leber congenital amaurosis 1 9.7 TULP1 RPE65 LRAT LCA5
17 pseudopapilledema 9.7 RPE65 RDH12 AIPL1
18 late-onset retinal degeneration 9.7 TULP1 RPE65 AIPL1
19 retinal vascular disease 9.7 RPE65 AIPL1
20 macular degeneration, age-related, 1 9.6 RPE65 RDH12 LRAT
21 nephronophthisis 9.6 SPATA7 LCA5 IQCB1
22 night blindness 9.6 TULP1 RPE65 RDH12 LRAT
23 fundus albipunctatus 9.6 TULP1 RPE65 RDH12 LRAT
24 leber congenital amaurosis 7 9.5 SPATA7 RDH12 LCA5 AIPL1
25 blood group, globoside system 9.3 TULP1 RPE65 RDH12 LRAT AIPL1
26 leber congenital amaurosis 6 9.2 TULP1 SPATA7 RDH12 LRAT LCA5 AIPL1
27 retinal degeneration 9.1 TULP1 SPATA7 RPE65 RDH12 LRAT AIPL1
28 coloboma of macula 9.1 RPE65 RDH12 LCA5 IQCB1 AIPL1
29 leber congenital amaurosis 12 9.0 SPATA7 RPE65 LCA5 KCNJ13 IQCB1 AIPL1
30 leber congenital amaurosis 8 9.0 TULP1 SPATA7 RPE65 RDH12 LRAT LCA5
31 leber congenital amaurosis 9 9.0 TULP1 SPATA7 RPE65 RDH12 LRAT LCA5
32 leber congenital amaurosis 2 9.0 TULP1 SPATA7 RPE65 RDH12 LRAT LCA5
33 eye degenerative disease 8.9 TULP1 RPE65 RDH12 LRAT IQCB1 AIPL1
34 eye disease 8.9 TULP1 RPE65 RDH12 LRAT IQCB1 AIPL1
35 stargardt disease 8.7 TULP1 SPATA7 RPE65 RDH12 LRAT IQCB1
36 senior-loken syndrome 1 8.7 TULP1 SPATA7 RPE65 RDH12 LCA5 IQCB1
37 congenital stationary night blindness 8.7 TULP1 RPE65 RDH12 LRAT LCA5 IQCB1
38 achromatopsia 8.7 TULP1 SPATA7 RPE65 RDH12 LCA5 IQCB1
39 leber congenital amaurosis 15 8.7 TULP1 SPATA7 RDH12 LCA5 KCNJ13 IQCB1
40 leber congenital amaurosis 11 8.7 TULP1 SPATA7 RDH12 LCA5 KCNJ13 IQCB1
41 bardet-biedl syndrome 8.7 TULP1 SPATA7 RPE65 RDH12 LCA5 IQCB1
42 cone dystrophy 8.5 TULP1 SPATA7 RPE65 RDH12 LRAT LCA5
43 leber congenital amaurosis 3 8.5 TULP1 SPATA7 RPE65 RDH12 LRAT LCA5
44 keratoconus 8.5 TULP1 SPATA7 RPE65 RDH12 LRAT LCA5
45 usher syndrome 8.5 TULP1 SPATA7 RPE65 RDH12 LRAT LCA5
46 joubert syndrome 1 8.5 TULP1 SPATA7 RPE65 RDH12 LRAT LCA5
47 leber congenital amaurosis 16 8.5 TULP1 SPATA7 RPE65 RDH12 LCA5 KCNJ13
48 leber congenital amaurosis 10 8.5 TULP1 SPATA7 RPE65 RDH12 LCA5 KCNJ13
49 leber plus disease 8.3 TULP1 SPATA7 RPE65 RDH12 LRAT LCA5
50 leber congenital amaurosis 13 8.3 TULP1 SPATA7 RPE65 RDH12 LRAT LCA5

Graphical network of the top 20 diseases related to Leber Congenital Amaurosis 14:



Diseases related to Leber Congenital Amaurosis 14

Symptoms & Phenotypes for Leber Congenital Amaurosis 14

Human phenotypes related to Leber Congenital Amaurosis 14:

30 (show all 11)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 nystagmus 30 HP:0000639
2 photophobia 30 HP:0000613
3 pallor 30 HP:0000980
4 reduced visual acuity 30 HP:0007663
5 nyctalopia 30 HP:0000662
6 rod-cone dystrophy 30 HP:0000510
7 optic disc pallor 30 HP:0000543
8 falls 30 HP:0002527
9 congenital blindness 30 HP:0007875
10 undetectable electroretinogram 30 HP:0000550
11 decreased light- and dark-adapted electroretinogram amplitude 30 HP:0000654

Symptoms via clinical synopsis from OMIM®:

57 (Updated 08-Dec-2022)
Head And Neck Eyes:
nystagmus
photophobia
optic disc pallor
decreased visual acuity
night blindness
more

Clinical features from OMIM®:

613341 (Updated 08-Dec-2022)

UMLS symptoms related to Leber Congenital Amaurosis 14:


photophobia

MGI Mouse Phenotypes related to Leber Congenital Amaurosis 14:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 nervous system MP:0003631 9.5 AIPL1 LCA5 LRAT RDH12 RPE65 SPATA7
2 vision/eye MP:0005391 9.23 AIPL1 IQCB1 LCA5 LRAT RDH12 RPE65

Drugs & Therapeutics for Leber Congenital Amaurosis 14

Search Clinical Trials, NIH Clinical Center for Leber Congenital Amaurosis 14

Cochrane evidence based reviews: leber congenital amaurosis 14

Genetic Tests for Leber Congenital Amaurosis 14

Genetic tests related to Leber Congenital Amaurosis 14:

# Genetic test Affiliating Genes
1 Leber Congenital Amaurosis 14 28 LRAT
2 Retinitis Pigmentosa, Juvenile, Lrat-Related 28

Anatomical Context for Leber Congenital Amaurosis 14

Organs/tissues related to Leber Congenital Amaurosis 14:

MalaCards : Retina, Eye, Bone

Publications for Leber Congenital Amaurosis 14

Articles related to Leber Congenital Amaurosis 14:

# Title Authors PMID Year
1
Identification of novel mutations in patients with Leber congenital amaurosis and juvenile RP by genome-wide homozygosity mapping with SNP microarrays. 57 5
18055821 2007
2
Screening genes of the retinoid metabolism: novel LRAT mutation in leber congenital amaurosis. 57 5
17011878 2006
3
Mutations in the gene encoding lecithin retinol acyltransferase are associated with early-onset severe retinal dystrophy. 57 5
11381255 2001
4
Clinical and molecular findings in a cohort of 152 Brazilian severe early onset inherited retinal dystrophy patients. 5
32865313 2020
5
Molecular Screening of 43 Brazilian Families Diagnosed with Leber Congenital Amaurosis or Early-Onset Severe Retinal Dystrophy. 5
29186038 2017
6
Mutations in RPE65 cause autosomal recessive childhood-onset severe retinal dystrophy. 57
9326941 1997
7
Clinical and Genetic Evaluation of a Cohort of Pediatric Patients with Severe Inherited Retinal Dystrophies. 62
29053603 2017
8
Leber Congenital Amaurosis – RETIRED CHAPTER, FOR HISTORICAL REFERENCE ONLY 62
20301475 2004

Variations for Leber Congenital Amaurosis 14

ClinVar genetic disease variations for Leber Congenital Amaurosis 14:

5 (show top 50) (show all 91)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 LRAT NM_004744.5(LRAT):c.525T>A (p.Ser175Arg) SNV Pathogenic
5334 rs104893848 GRCh37: 4:155666003-155666003
GRCh38: 4:154744851-154744851
2 LRAT NM_004744.5(LRAT):c.400_401del (p.Lys134fs) DEL Pathogenic
5335 rs761717462 GRCh37: 4:155665875-155665876
GRCh38: 4:154744723-154744724
3 LRAT NC_000004.12:g.(?_154740841)_(154749136_?)del DEL Pathogenic
978446 GRCh37:
GRCh38: 4:154740841-154749136
4 LRAT NM_004744.5(LRAT):c.554_555del (p.Val185fs) MICROSAT Pathogenic
978449 rs1732935012 GRCh37: 4:155670147-155670148
GRCh38: 4:154748995-154748996
5 LRAT NM_004744.5(LRAT):c.504C>A (p.Cys168Ter) SNV Pathogenic
1172717 GRCh37: 4:155665982-155665982
GRCh38: 4:154744830-154744830
6 LRAT NM_004744.5(LRAT):c.217_218del (p.Met73fs) DEL Pathogenic
Pathogenic
5336 rs1560870755 GRCh37: 4:155665695-155665696
GRCh38: 4:154744543-154744544
7 LRAT NM_004744.5(LRAT):c.224C>T (p.Pro75Leu) SNV Likely Pathogenic
1172716 GRCh37: 4:155665702-155665702
GRCh38: 4:154744550-154744550
8 LRAT NM_004744.5(LRAT):c.346T>C (p.Phe116Leu) SNV Likely Pathogenic
802098 rs1578860322 GRCh37: 4:155665824-155665824
GRCh38: 4:154744672-154744672
9 LRAT NM_004744.5(LRAT):c.299G>A (p.Gly100Asp) SNV Likely Pathogenic
842208 rs1396648864 GRCh37: 4:155665777-155665777
GRCh38: 4:154744625-154744625
10 LRAT NM_004744.5(LRAT):c.149T>G (p.Val50Gly) SNV Likely Pathogenic
978450 rs1384466058 GRCh37: 4:155665627-155665627
GRCh38: 4:154744475-154744475
11 LRAT NM_004744.5(LRAT):c.481T>C (p.Cys161Arg) SNV Likely Pathogenic
978447 rs1732848653 GRCh37: 4:155665959-155665959
GRCh38: 4:154744807-154744807
12 LRAT NM_004744.5(LRAT):c.487C>T (p.His163Tyr) SNV Likely Pathogenic
978448 rs1010347467 GRCh37: 4:155665965-155665965
GRCh38: 4:154744813-154744813
13 LRAT NM_004744.5(LRAT):c.316G>A (p.Ala106Thr) SNV Uncertain Significance
1065731 GRCh37: 4:155665794-155665794
GRCh38: 4:154744642-154744642
14 LRAT NM_004744.5(LRAT):c.403G>T (p.Ala135Ser) SNV Uncertain Significance
347851 rs139819099 GRCh37: 4:155665881-155665881
GRCh38: 4:154744729-154744729
15 LRAT NM_004744.5(LRAT):c.205C>T (p.Arg69Cys) SNV Uncertain Significance
347848 rs775838916 GRCh37: 4:155665683-155665683
GRCh38: 4:154744531-154744531
16 LRAT NM_004744.5(LRAT):c.80C>G (p.Ser27Trp) SNV Uncertain Significance
899603 rs141705269 GRCh37: 4:155665558-155665558
GRCh38: 4:154744406-154744406
17 LRAT NM_004744.5(LRAT):c.258G>A (p.Gly86=) SNV Uncertain Significance
347850 rs768389044 GRCh37: 4:155665736-155665736
GRCh38: 4:154744584-154744584
18 LRAT NM_004744.5(LRAT):c.244A>G (p.Thr82Ala) SNV Uncertain Significance
347849 rs747900628 GRCh37: 4:155665722-155665722
GRCh38: 4:154744570-154744570
19 LRAT NM_004744.5(LRAT):c.*2190C>T SNV Uncertain Significance
347868 rs886059169 GRCh37: 4:155672478-155672478
GRCh38: 4:154751326-154751326
20 LRAT NM_004744.5(LRAT):c.*2418G>A SNV Uncertain Significance
347872 rs886059170 GRCh37: 4:155672706-155672706
GRCh38: 4:154751554-154751554
21 LRAT NM_004744.5(LRAT):c.-2+7A>C SNV Uncertain Significance
347847 rs886059161 GRCh37: 4:155665381-155665381
GRCh38: 4:154744229-154744229
22 LRAT NM_004744.5(LRAT):c.*2310A>T SNV Uncertain Significance
347870 rs368622887 GRCh37: 4:155672598-155672598
GRCh38: 4:154751446-154751446
23 LRAT NM_004744.5(LRAT):c.*3264G>A SNV Uncertain Significance
347882 rs115053323 GRCh37: 4:155673552-155673552
GRCh38: 4:154752400-154752400
24 LRAT NM_004744.5(LRAT):c.*3654T>C SNV Uncertain Significance
347886 rs191784588 GRCh37: 4:155673942-155673942
GRCh38: 4:154752790-154752790
25 LRAT NM_004744.5(LRAT):c.*1281C>A SNV Uncertain Significance
347864 rs572110901 GRCh37: 4:155671569-155671569
GRCh38: 4:154750417-154750417
26 LRAT NM_004744.5(LRAT):c.*3509C>A SNV Uncertain Significance
899855 rs1243976906 GRCh37: 4:155673797-155673797
GRCh38: 4:154752645-154752645
27 LRAT NM_004744.5(LRAT):c.364A>G (p.Ile122Val) SNV Uncertain Significance
900735 rs907805484 GRCh37: 4:155665842-155665842
GRCh38: 4:154744690-154744690
28 LRAT NM_004744.5(LRAT):c.*561A>G SNV Uncertain Significance
900814 rs1046022135 GRCh37: 4:155670849-155670849
GRCh38: 4:154749697-154749697
29 LRAT NM_004744.5(LRAT):c.*624T>C SNV Uncertain Significance
900815 rs1732952951 GRCh37: 4:155670912-155670912
GRCh38: 4:154749760-154749760
30 LRAT NM_004744.5(LRAT):c.*1936G>C SNV Uncertain Significance
900893 rs1011111572 GRCh37: 4:155672224-155672224
GRCh38: 4:154751072-154751072
31 LRAT NM_004744.5(LRAT):c.*2064T>G SNV Uncertain Significance
900894 rs959693267 GRCh37: 4:155672352-155672352
GRCh38: 4:154751200-154751200
32 LRAT NM_004744.5(LRAT):c.*2629G>A SNV Uncertain Significance
900961 rs112759047 GRCh37: 4:155672917-155672917
GRCh38: 4:154751765-154751765
33 LRAT NM_004744.5(LRAT):c.*3714T>C SNV Uncertain Significance
901031 rs183640442 GRCh37: 4:155674002-155674002
GRCh38: 4:154752850-154752850
34 LRAT NM_004744.5(LRAT):c.*3917A>G SNV Uncertain Significance
901584 rs1052203357 GRCh37: 4:155674205-155674205
GRCh38: 4:154753053-154753053
35 LRAT NM_004744.5(LRAT):c.*81T>C SNV Uncertain Significance
902420 rs763149722 GRCh37: 4:155670369-155670369
GRCh38: 4:154749217-154749217
36 LRAT NM_004744.5(LRAT):c.*2222G>C SNV Uncertain Significance
902562 rs940106140 GRCh37: 4:155672510-155672510
GRCh38: 4:154751358-154751358
37 LRAT NM_004744.5(LRAT):c.*2322C>T SNV Uncertain Significance
902563 rs1046783706 GRCh37: 4:155672610-155672610
GRCh38: 4:154751458-154751458
38 LRAT NM_004744.5(LRAT):c.*2347C>T SNV Uncertain Significance
902564 rs528985596 GRCh37: 4:155672635-155672635
GRCh38: 4:154751483-154751483
39 LRAT NM_004744.5(LRAT):c.*2854A>G SNV Uncertain Significance
902616 rs745679958 GRCh37: 4:155673142-155673142
GRCh38: 4:154751990-154751990
40 LRAT NM_004744.5(LRAT):c.*2855A>G SNV Uncertain Significance
902617 rs1733006832 GRCh37: 4:155673143-155673143
GRCh38: 4:154751991-154751991
41 LRAT NM_004744.5(LRAT):c.*3072G>T SNV Uncertain Significance
902618 rs944531041 GRCh37: 4:155673360-155673360
GRCh38: 4:154752208-154752208
42 LRAT NM_004744.5(LRAT):c.-15C>T SNV Uncertain Significance
903210 rs113018020 GRCh37: 4:155665361-155665361
GRCh38: 4:154744209-154744209
43 LRAT NM_004744.5(LRAT):c.*98C>A SNV Uncertain Significance
903276 rs529360609 GRCh37: 4:155670386-155670386
GRCh38: 4:154749234-154749234
44 LRAT NM_004744.5(LRAT):c.*138C>A SNV Uncertain Significance
899673 rs1241475769 GRCh37: 4:155670426-155670426
GRCh38: 4:154749274-154749274
45 LRAT NM_004744.5(LRAT):c.*828G>C SNV Uncertain Significance
903351 rs1732961028 GRCh37: 4:155671116-155671116
GRCh38: 4:154749964-154749964
46 LRAT NM_004744.5(LRAT):c.*1120C>T SNV Uncertain Significance
903352 rs745651761 GRCh37: 4:155671408-155671408
GRCh38: 4:154750256-154750256
47 LRAT NM_004744.5(LRAT):c.*2417G>A SNV Uncertain Significance
903413 rs569981218 GRCh37: 4:155672705-155672705
GRCh38: 4:154751553-154751553
48 LRAT NM_004744.5(LRAT):c.*3081A>C SNV Uncertain Significance
903464 rs779703148 GRCh37: 4:155673369-155673369
GRCh38: 4:154752217-154752217
49 LRAT NM_004744.5(LRAT):c.*3163C>T SNV Uncertain Significance
903465 rs768550356 GRCh37: 4:155673451-155673451
GRCh38: 4:154752299-154752299
50 LRAT NM_004744.5(LRAT):c.*3213C>T SNV Uncertain Significance
903466 rs1733014698 GRCh37: 4:155673501-155673501
GRCh38: 4:154752349-154752349

UniProtKB/Swiss-Prot genetic disease variations for Leber Congenital Amaurosis 14:

73
# Symbol AA change Variation ID SNP ID
1 LRAT p.Ser175Arg VAR_018386 rs104893848

Expression for Leber Congenital Amaurosis 14

Search GEO for disease gene expression data for Leber Congenital Amaurosis 14.

Pathways for Leber Congenital Amaurosis 14

GO Terms for Leber Congenital Amaurosis 14

Cellular components related to Leber Congenital Amaurosis 14 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 photoreceptor outer segment GO:0001750 9.55 TULP1 SPATA7 IQCB1
2 photoreceptor inner segment GO:0001917 9.43 TULP1 RDH12 AIPL1
3 photoreceptor connecting cilium GO:0032391 9.1 SPATA7 LCA5 IQCB1

Biological processes related to Leber Congenital Amaurosis 14 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 retinol metabolic process GO:0042572 9.85 RPE65 RDH12 LRAT
2 retina homeostasis GO:0001895 9.8 TULP1 RPE65 AIPL1
3 detection of light stimulus involved in visual perception GO:0050908 9.76 TULP1 RPE65
4 protein localization to photoreceptor outer segment GO:1903546 9.73 TULP1 SPATA7
5 retinoid metabolic process GO:0001523 9.73 LRAT RDH12 RPE65
6 visual perception GO:0007601 9.73 TULP1 SPATA7 RPE65 RDH12 LRAT AIPL1
7 vitamin A metabolic process GO:0006776 9.71 RPE65 LRAT
8 response to stimulus GO:0050896 9.7 TULP1 SPATA7 RPE65 RDH12 LRAT AIPL1
9 photoreceptor cell maintenance GO:0045494 9.32 TULP1 SPATA7 RDH12 LCA5 IQCB1

Sources for Leber Congenital Amaurosis 14

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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