LCA16
MCID: LBR011
MIFTS: 38

Leber Congenital Amaurosis 16 (LCA16)

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

Aliases & Classifications for Leber Congenital Amaurosis 16

MalaCards integrated aliases for Leber Congenital Amaurosis 16:

Name: Leber Congenital Amaurosis 16 57 12 20 72 29 13 6 15 70
Lca16 57 12 20 72
Leber Congenital Amaurosis, Type 16 39

Characteristics:

OMIM®:

57 (Updated 05-Apr-2021)
Inheritance:
autosomal recessive


HPO:

31
leber congenital amaurosis 16:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0110118
OMIM® 57 614186
OMIM Phenotypic Series 57 PS204000
MeSH 44 D057130
ICD10 32 H35.5
MedGen 41 C3280062
UMLS 70 C3280062

Summaries for Leber Congenital Amaurosis 16

UniProtKB/Swiss-Prot : 72 Leber congenital amaurosis 16: 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.

MalaCards based summary : Leber Congenital Amaurosis 16, also known as lca16, is related to vitreoretinal degeneration and vitreoretinal degeneration, snowflake type, and has symptoms including photophobia An important gene associated with Leber Congenital Amaurosis 16 is KCNJ13 (Potassium Inwardly Rectifying Channel Subfamily J Member 13). Affiliated tissues include retina and eye, and related phenotypes are strabismus and nystagmus

Disease Ontology : 12 A Leber congenital amaurosis that has material basis in mutation in the KCNJ13 gene on chromosome 2q37.

More information from OMIM: 614186 PS204000

Related Diseases for Leber Congenital Amaurosis 16

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

(show top 50) (show all 57)
# Related Disease Score Top Affiliating Genes
1 vitreoretinal degeneration 30.1 KCNJ13 GIGYF2
2 vitreoretinal degeneration, snowflake type 30.0 KCNJ13 GIGYF2
3 leber plus disease 27.0 SPATA7 RDH12 RD3 LCA5 KCNJ13 IMPDH1
4 cone-rod dystrophy 17 10.1 GUCY2D AIPL1
5 partial central choroid dystrophy 10.1 GUCY2D AIPL1
6 hereditary choroidal atrophy 10.1 GUCY2D AIPL1
7 severe early-childhood-onset retinal dystrophy 10.1 SPATA7 LCA5
8 cone-rod dystrophy 12 10.1 GUCY2D AIPL1
9 yemenite deaf-blind hypopigmentation syndrome 10.1 GUCY2D AIPL1
10 color blindness 10.0 GUCY2D AIPL1
11 hereditary retinal dystrophy 10.0 GUCY2D CRB1
12 scotoma 10.0 GUCY2D CRB1
13 choroidal dystrophy, central areolar, 1 9.9 SPATA7 GUCY2D AIPL1
14 solar retinopathy 9.9 RDH12 CRB1
15 retinitis pigmentosa 25 9.9 LCA5 CRB1
16 cone-rod dystrophy 8 9.9 LCA5 GUCY2D AIPL1
17 chorioretinal scar 9.9 RDH12 CRB1
18 retinoschisis 1, x-linked, juvenile 9.9 GUCY2D CRB1
19 pseudoretinitis pigmentosa 9.8 IMPDH1 CRB1
20 cone-rod dystrophy 6 9.8 RD3 GUCY2D
21 usher syndrome type 2 9.8 LCA5 GUCY2D CRB1
22 fundus albipunctatus 9.7 RDH12 GUCY2D CRB1
23 nanophthalmos 9.7 LCA5 CRB1
24 pseudopapilledema 9.6 RDH12 GUCY2D CRB1 AIPL1
25 pigmented paravenous chorioretinal atrophy 9.6 RDH12 GUCY2D CRB1 AIPL1
26 leber congenital amaurosis 14 9.5 SPATA7 RDH12 LCA5 KCNJ13 AIPL1
27 leber congenital amaurosis 13 9.5 SPATA7 RDH12 LCA5 KCNJ13 AIPL1
28 leber congenital amaurosis 5 9.3 SPATA7 RDH12 RD3 LCA5 AIPL1
29 congenital stationary night blindness 9.2 RDH12 RD3 GUCY2D CRB1 AIPL1
30 leber congenital amaurosis 11 9.2 SPATA7 RDH12 LCA5 IMPDH1 AIPL1
31 cone dystrophy 9.1 SPATA7 RDH12 LCA5 GUCY2D CRB1 AIPL1
32 eye degenerative disease 9.1 RDH12 IMPDH1 GUCY2D CRB1 AIPL1
33 bardet-biedl syndrome 9.1 SPATA7 RDH12 LCA5 GUCY2D CRB1 AIPL1
34 retinal disease 9.1 RDH12 IMPDH1 GUCY2D CRB1 AIPL1
35 usher syndrome, type iiia 9.1 RDH12 LCA5 IMPDH1 CRB1 AIPL1
36 achromatopsia 9.1 SPATA7 RDH12 RD3 GUCY2D CRB1 AIPL1
37 leber congenital amaurosis 12 9.0 SPATA7 RDH12 RD3 LCA5 KCNJ13 GUCY2D
38 usher syndrome 8.9 RDH12 LCA5 IMPDH1 GUCY2D CRB1 AIPL1
39 leber congenital amaurosis 15 8.7 SPATA7 RDH12 RD3 LCA5 KCNJ13 IMPDH1
40 leber congenital amaurosis 8 8.7 SPATA7 RDH12 LCA5 IMPDH1 GUCY2D CRB1
41 leber congenital amaurosis 7 8.7 SPATA7 RDH12 LCA5 IMPDH1 GUCY2D CRB1
42 leber congenital amaurosis 6 8.7 SPATA7 RDH12 LCA5 IMPDH1 GUCY2D CRB1
43 leber congenital amaurosis 9 8.7 SPATA7 RDH12 LCA5 IMPDH1 GUCY2D CRB1
44 senior-loken syndrome 1 8.7 SPATA7 RDH12 LCA5 IMPDH1 GUCY2D CRB1
45 pathologic nystagmus 8.7 SPATA7 RDH12 LCA5 IMPDH1 GUCY2D CRB1
46 stargardt disease 8.7 SPATA7 RDH12 LCA5 IMPDH1 GUCY2D CRB1
47 retinal degeneration 8.6 SPATA7 RDH12 RD3 IMPDH1 GUCY2D CRB1
48 leber congenital amaurosis 4 8.4 SPATA7 RDH12 RD3 LCA5 IMPDH1 GUCY2D
49 leber congenital amaurosis 3 8.4 SPATA7 RDH12 RD3 LCA5 IMPDH1 GUCY2D
50 leber congenital amaurosis 2 8.4 SPATA7 RDH12 RD3 LCA5 IMPDH1 GUCY2D

Graphical network of the top 20 diseases related to Leber Congenital Amaurosis 16:



Diseases related to Leber Congenital Amaurosis 16

Symptoms & Phenotypes for Leber Congenital Amaurosis 16

Human phenotypes related to Leber Congenital Amaurosis 16:

31 (show all 7)
# Description HPO Frequency HPO Source Accession
1 strabismus 31 occasional (7.5%) HP:0000486
2 nystagmus 31 HP:0000639
3 cataract 31 HP:0000518
4 photophobia 31 HP:0000613
5 reduced visual acuity 31 HP:0007663
6 nyctalopia 31 HP:0000662
7 optic disc pallor 31 HP:0000543

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Head And Neck Eyes:
nystagmus
cataract
photophobia
poor visual acuity
strabismus (in some patients)
more

Clinical features from OMIM®:

614186 (Updated 05-Apr-2021)

UMLS symptoms related to Leber Congenital Amaurosis 16:


photophobia

MGI Mouse Phenotypes related to Leber Congenital Amaurosis 16:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 nervous system MP:0003631 9.56 AIPL1 CRB1 GIGYF2 GUCY2D LCA5 RD3
2 vision/eye MP:0005391 9.23 AIPL1 CRB1 GUCY2D IMPDH1 LCA5 RD3

Drugs & Therapeutics for Leber Congenital Amaurosis 16

Search Clinical Trials , NIH Clinical Center for Leber Congenital Amaurosis 16

Genetic Tests for Leber Congenital Amaurosis 16

Genetic tests related to Leber Congenital Amaurosis 16:

# Genetic test Affiliating Genes
1 Leber Congenital Amaurosis 16 29 KCNJ13

Anatomical Context for Leber Congenital Amaurosis 16

MalaCards organs/tissues related to Leber Congenital Amaurosis 16:

40
Retina, Eye

Publications for Leber Congenital Amaurosis 16

Articles related to Leber Congenital Amaurosis 16:

# Title Authors PMID Year
1
A Novel KCNJ13 Nonsense Mutation and Loss of Kir7.1 Channel Function Causes Leber Congenital Amaurosis (LCA16). 57 6 61
25921210 2015
2
A distinct vitreo-retinal dystrophy with early-onset cataract from recessive KCNJ13 mutations. 6 57
25475713 2015
3
Recessive mutations in KCNJ13, encoding an inwardly rectifying potassium channel subunit, cause leber congenital amaurosis. 57 6
21763485 2011
4
LEBER CONGENITAL AMAUROSIS WITH LARGE RETINAL PIGMENT CLUMPS CAUSED BY COMPOUND HETEROZYGOUS MUTATIONS IN KCNJ13. 6
27203561 2017
5
Sensing through Non-Sensing Ocular Ion Channels. 61
32967234 2020
6
KCNJ13 Gene Deletion Impairs Cell Alignment and Phagocytosis in Retinal Pigment Epithelium Derived from Human-Induced Pluripotent Stem Cells. 61
32437550 2020
7
Gene Augmentation and Readthrough Rescue Channelopathy in an iPSC-RPE Model of Congenital Blindness. 61
30686507 2019
8
Focus on Kir7.1: physiology and channelopathy. 61
25558901 2014
9
Leber Congenital Amaurosis – RETIRED CHAPTER, FOR HISTORICAL REFERENCE ONLY 61
20301475 2004

Variations for Leber Congenital Amaurosis 16

ClinVar genetic disease variations for Leber Congenital Amaurosis 16:

6 (show top 50) (show all 60)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 GIGYF2 , KCNJ13 NM_002242.4(KCNJ13):c.359T>C (p.Ile120Thr) SNV Pathogenic 191155 rs786205550 GRCh37: 2:233635714-233635714
GRCh38: 2:232771004-232771004
2 GIGYF2 , KCNJ13 NM_002242.4(KCNJ13):c.158G>A (p.Trp53Ter) SNV Pathogenic 224857 rs869320631 GRCh37: 2:233635915-233635915
GRCh38: 2:232771205-232771205
3 GIGYF2 , KCNJ13 NM_002242.4(KCNJ13):c.494del (p.Asn165fs) Deletion Pathogenic 978432 GRCh37: 2:233633490-233633490
GRCh38: 2:232768780-232768780
4 GIGYF2 , KCNJ13 NM_002242.4(KCNJ13):c.655C>T (p.Gln219Ter) SNV Pathogenic 978433 GRCh37: 2:233633329-233633329
GRCh38: 2:232768619-232768619
5 GIGYF2 , KCNJ13 NM_002242.4(KCNJ13):c.496C>T (p.Arg166Ter) SNV Pathogenic 30331 rs387906858 GRCh37: 2:233633488-233633488
GRCh38: 2:232768778-232768778
6 GIGYF2 , KCNJ13 NM_002242.4(KCNJ13):c.722T>C (p.Leu241Pro) SNV Pathogenic 30332 rs143607153 GRCh37: 2:233633262-233633262
GRCh38: 2:232768552-232768552
7 GIGYF2 , KCNJ13 NM_002242.4(KCNJ13):c.796G>T (p.Glu266Ter) SNV Pathogenic 1032044 GRCh37: 2:233633188-233633188
GRCh38: 2:232768478-232768478
8 GIGYF2 , KCNJ13 NM_002242.4(KCNJ13):c.458C>T (p.Thr153Ile) SNV Likely pathogenic 216947 rs863224884 GRCh37: 2:233635615-233635615
GRCh38: 2:232770905-232770905
9 GIGYF2 , KCNJ13 NM_002242.4(KCNJ13):c.314G>T (p.Ser105Ile) SNV Likely pathogenic 978434 GRCh37: 2:233635759-233635759
GRCh38: 2:232771049-232771049
10 GIGYF2 , KCNJ13 NM_002242.4(KCNJ13):c.431T>C (p.Leu144Pro) SNV Uncertain significance 916717 rs1361858388 GRCh37: 2:233635642-233635642
GRCh38: 2:232770932-232770932
11 GIGYF2 , KCNJ13 NM_002242.4(KCNJ13):c.689G>A (p.Ser230Asn) SNV Uncertain significance 335053 rs146797648 GRCh37: 2:233633295-233633295
GRCh38: 2:232768585-232768585
12 GIGYF2 , KCNJ13 NM_002242.4(KCNJ13):c.485G>A (p.Arg162Gln) SNV Uncertain significance 899321 GRCh37: 2:233633499-233633499
GRCh38: 2:232768789-232768789
13 GIGYF2 , KCNJ13 NM_002242.4(KCNJ13):c.*2153G>A SNV Uncertain significance 898162 GRCh37: 2:233630748-233630748
GRCh38: 2:232766038-232766038
14 GIGYF2 , KCNJ13 NM_002242.4(KCNJ13):c.*326A>G SNV Uncertain significance 898214 GRCh37: 2:233632575-233632575
GRCh38: 2:232767865-232767865
15 GIGYF2 , KCNJ13 NM_002242.4(KCNJ13):c.*2007T>G SNV Uncertain significance 899261 GRCh37: 2:233630894-233630894
GRCh38: 2:232766184-232766184
16 GIGYF2 , KCNJ13 NM_002242.4(KCNJ13):c.*1757A>T SNV Uncertain significance 899262 GRCh37: 2:233631144-233631144
GRCh38: 2:232766434-232766434
17 GIGYF2 , KCNJ13 NM_002242.4(KCNJ13):c.*1718T>C SNV Uncertain significance 899263 GRCh37: 2:233631183-233631183
GRCh38: 2:232766473-232766473
18 GIGYF2 , KCNJ13 NM_002242.4(KCNJ13):c.*68T>C SNV Uncertain significance 899319 GRCh37: 2:233632833-233632833
GRCh38: 2:232768123-232768123
19 GIGYF2 , KCNJ13 NM_002242.4(KCNJ13):c.870G>A (p.Pro290=) SNV Uncertain significance 899320 GRCh37: 2:233633114-233633114
GRCh38: 2:232768404-232768404
20 GIGYF2 , KCNJ13 NM_002242.4(KCNJ13):c.*619C>T SNV Uncertain significance 335043 rs114432797 GRCh37: 2:233632282-233632282
GRCh38: 2:232767572-232767572
21 GIGYF2 , KCNJ13 NM_002242.4(KCNJ13):c.-74C>T SNV Uncertain significance 335060 rs755592443 GRCh37: 2:233641212-233641212
GRCh38: 2:232776502-232776502
22 GIGYF2 , KCNJ13 NM_002242.4(KCNJ13):c.*957A>G SNV Uncertain significance 335040 rs886055793 GRCh37: 2:233631944-233631944
GRCh38: 2:232767234-232767234
23 GIGYF2 , KCNJ13 NM_002242.4(KCNJ13):c.*2324C>T SNV Uncertain significance 335029 rs74547374 GRCh37: 2:233630577-233630577
GRCh38: 2:232765867-232765867
24 GIGYF2 , KCNJ13 NM_002242.4(KCNJ13):c.*290T>C SNV Uncertain significance 335046 rs191388517 GRCh37: 2:233632611-233632611
GRCh38: 2:232767901-232767901
25 GIGYF2 , KCNJ13 NM_002242.4(KCNJ13):c.*94A>C SNV Uncertain significance 335052 rs570138880 GRCh37: 2:233632807-233632807
GRCh38: 2:232768097-232768097
26 GIGYF2 , KCNJ13 NM_002242.4(KCNJ13):c.548G>A (p.Gly183Asp) SNV Uncertain significance 335055 rs886055797 GRCh37: 2:233633436-233633436
GRCh38: 2:232768726-232768726
27 GIGYF2 , KCNJ13 NM_002242.4(KCNJ13):c.*1201C>T SNV Uncertain significance 335038 rs116740510 GRCh37: 2:233631700-233631700
GRCh38: 2:232766990-232766990
28 GIGYF2 , KCNJ13 NM_002242.4(KCNJ13):c.*371T>C SNV Uncertain significance 335044 rs539079150 GRCh37: 2:233632530-233632530
GRCh38: 2:232767820-232767820
29 GIGYF2 , KCNJ13 NM_002242.4(KCNJ13):c.-110A>T SNV Uncertain significance 335061 rs374864322 GRCh37: 2:233641248-233641248
GRCh38: 2:232776538-232776538
30 GIGYF2 , KCNJ13 NM_002242.4(KCNJ13):c.*256G>A SNV Uncertain significance 335047 rs568320995 GRCh37: 2:233632645-233632645
GRCh38: 2:232767935-232767935
31 GIGYF2 , KCNJ13 NM_002242.4(KCNJ13):c.*1881T>A SNV Uncertain significance 335030 rs369335960 GRCh37: 2:233631020-233631020
GRCh38: 2:232766310-232766310
32 GIGYF2 , KCNJ13 NM_002242.4(KCNJ13):c.*1804G>A SNV Uncertain significance 335033 rs886055791 GRCh37: 2:233631097-233631097
GRCh38: 2:232766387-232766387
33 GIGYF2 , KCNJ13 NM_002242.4(KCNJ13):c.*121A>G SNV Uncertain significance 335050 rs147795007 GRCh37: 2:233632780-233632780
GRCh38: 2:232768070-232768070
34 GIGYF2 , KCNJ13 NM_002242.4(KCNJ13):c.-73T>C SNV Uncertain significance 335059 rs886055798 GRCh37: 2:233641211-233641211
GRCh38: 2:232776501-232776501
35 GIGYF2 , KCNJ13 NM_002242.4(KCNJ13):c.*1500G>A SNV Uncertain significance 335036 rs543305193 GRCh37: 2:233631401-233631401
GRCh38: 2:232766691-232766691
36 GIGYF2 , KCNJ13 NM_002242.4(KCNJ13):c.*1088T>C SNV Uncertain significance 335039 rs768069588 GRCh37: 2:233631813-233631813
GRCh38: 2:232767103-232767103
37 GIGYF2 , KCNJ13 NM_002242.4(KCNJ13):c.*692T>C SNV Uncertain significance 335042 rs150909352 GRCh37: 2:233632209-233632209
GRCh38: 2:232767499-232767499
38 GIGYF2 , KCNJ13 NM_002242.4(KCNJ13):c.*342A>G SNV Uncertain significance 335045 rs886055794 GRCh37: 2:233632559-233632559
GRCh38: 2:232767849-232767849
39 GIGYF2 , KCNJ13 NM_002242.4(KCNJ13):c.621A>G (p.Val207=) SNV Uncertain significance 335054 rs886055796 GRCh37: 2:233633363-233633363
GRCh38: 2:232768653-232768653
40 GIGYF2 , KCNJ13 NM_002242.4(KCNJ13):c.474G>A (p.Ala158=) SNV Uncertain significance 335057 rs769501717 GRCh37: 2:233633510-233633510
GRCh38: 2:232768800-232768800
41 GIGYF2 , KCNJ13 NM_002242.4(KCNJ13):c.*1867T>C SNV Uncertain significance 335031 rs144253492 GRCh37: 2:233631034-233631034
GRCh38: 2:232766324-232766324
42 GIGYF2 , KCNJ13 NM_002242.4(KCNJ13):c.*1758T>A SNV Uncertain significance 335034 rs886055792 GRCh37: 2:233631143-233631143
GRCh38: 2:232766433-232766433
43 GIGYF2 , KCNJ13 NM_002242.4(KCNJ13):c.*102T>G SNV Uncertain significance 335051 rs886055795 GRCh37: 2:233632799-233632799
GRCh38: 2:232768089-232768089
44 GIGYF2 , KCNJ13 NM_002242.4(KCNJ13):c.*1635T>C SNV Uncertain significance 895166 GRCh37: 2:233631266-233631266
GRCh38: 2:232766556-232766556
45 GIGYF2 , KCNJ13 NM_002242.4(KCNJ13):c.*1553T>G SNV Uncertain significance 895167 GRCh37: 2:233631348-233631348
GRCh38: 2:232766638-232766638
46 GIGYF2 , KCNJ13 NM_002242.4(KCNJ13):c.*1195G>T SNV Uncertain significance 895168 GRCh37: 2:233631706-233631706
GRCh38: 2:232766996-232766996
47 GIGYF2 , KCNJ13 NM_002242.4(KCNJ13):c.*1159T>C SNV Uncertain significance 895169 GRCh37: 2:233631742-233631742
GRCh38: 2:232767032-232767032
48 GIGYF2 , KCNJ13 NM_002242.4(KCNJ13):c.242T>C (p.Met81Thr) SNV Uncertain significance 895229 GRCh37: 2:233635831-233635831
GRCh38: 2:232771121-232771121
49 GIGYF2 , KCNJ13 NM_002242.4(KCNJ13):c.141C>T (p.Ile47=) SNV Uncertain significance 895230 GRCh37: 2:233635932-233635932
GRCh38: 2:232771222-232771222
50 GIGYF2 , KCNJ13 NM_002242.4(KCNJ13):c.125G>C (p.Arg42Pro) SNV Uncertain significance 895231 GRCh37: 2:233635948-233635948
GRCh38: 2:232771238-232771238

UniProtKB/Swiss-Prot genetic disease variations for Leber Congenital Amaurosis 16:

72
# Symbol AA change Variation ID SNP ID
1 KCNJ13 p.Gln117Arg VAR_066488
2 KCNJ13 p.Leu241Pro VAR_066490 rs143607153

Expression for Leber Congenital Amaurosis 16

Search GEO for disease gene expression data for Leber Congenital Amaurosis 16.

Pathways for Leber Congenital Amaurosis 16

GO Terms for Leber Congenital Amaurosis 16

Cellular components related to Leber Congenital Amaurosis 16 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 cell projection GO:0042995 9.55 SPATA7 RD3 LCA5 GUCY2D CRB1
2 photoreceptor connecting cilium GO:0032391 9.26 SPATA7 LCA5
3 photoreceptor outer segment GO:0001750 9.26 SPATA7 RD3 GUCY2D CRB1
4 photoreceptor inner segment GO:0001917 8.92 RDH12 RD3 CRB1 AIPL1

Biological processes related to Leber Congenital Amaurosis 16 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 response to stimulus GO:0050896 9.55 SPATA7 RDH12 RD3 GUCY2D AIPL1
2 retina development in camera-type eye GO:0060041 9.32 RD3 CRB1
3 regulation of rhodopsin mediated signaling pathway GO:0022400 9.26 GUCY2D AIPL1
4 photoreceptor cell maintenance GO:0045494 9.26 SPATA7 RDH12 LCA5 CRB1
5 visual perception GO:0007601 9.1 SPATA7 RDH12 RD3 GUCY2D CRB1 AIPL1

Sources for Leber Congenital Amaurosis 16

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
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
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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