RP2
MCID: RTN162
MIFTS: 46

Retinitis Pigmentosa 2 (RP2)

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

Aliases & Classifications for Retinitis Pigmentosa 2

MalaCards integrated aliases for Retinitis Pigmentosa 2:

Name: Retinitis Pigmentosa 2 57 12 72 29 13 6 15 70
Rp2 57 12 72
X-Linked Retinitis Pigmentosa 2 72
Retinitis Pigmentosa, Type 2 39
Xlrp-2 72
Xlrp2 72

Characteristics:

OMIM®:

57 (Updated 20-May-2021)
Inheritance:
x-linked

Miscellaneous:
some heterozygous females show a blue-yellow color defect


HPO:

31
retinitis pigmentosa 2:
Inheritance x-linked inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0110415
OMIM® 57 312600
OMIM Phenotypic Series 57 PS268000
MeSH 44 D012174
ICD10 32 H35.5
MedGen 41 C2681923
UMLS 70 C2681923

Summaries for Retinitis Pigmentosa 2

OMIM® : 57 Retinitis pigmentosa is characterized by constriction of the visual fields, night blindness, and fundus changes, including 'bone corpuscle' lumps of pigment. RP unassociated with other abnormalities is inherited most frequently (84%) as an autosomal recessive, next as an autosomal dominant (10%), and least frequently (6%) as an X-linked recessive in the white U.S. population (Boughman et al., 1980). For a general phenotypic description and a discussion of genetic heterogeneity of retinitis pigmentosa, see 268000. (312600) (Updated 20-May-2021)

MalaCards based summary : Retinitis Pigmentosa 2, also known as rp2, is related to retinitis pigmentosa 3 and retinitis pigmentosa 4. An important gene associated with Retinitis Pigmentosa 2 is RP2 (RP2 Activator Of ARL3 GTPase), and among its related pathways/superpathways are Organelle biogenesis and maintenance and Chaperonin-mediated protein folding. Affiliated tissues include eye, retina and kidney, and related phenotypes are cataract and myopia

Disease Ontology : 12 A retinitis pigmentosa that has material basis in mutation in the RP2 gene on chromosome Xp11.3.

UniProtKB/Swiss-Prot : 72 Retinitis pigmentosa 2: A retinal dystrophy belonging to the group of pigmentary retinopathies. Retinitis pigmentosa is characterized by retinal pigment deposits visible on fundus examination and primary loss of rod photoreceptor cells followed by secondary loss of cone photoreceptors. Patients typically have night vision blindness and loss of midperipheral visual field. As their condition progresses, they lose their far peripheral visual field and eventually central vision as well.

Related Diseases for Retinitis Pigmentosa 2

Diseases in the Retinitis Pigmentosa family:

Retinitis Pigmentosa 1 Retinitis Pigmentosa 9
Retinitis Pigmentosa 10 Retinitis Pigmentosa, Late-Adult Onset
Retinitis Pigmentosa 3 Retinitis Pigmentosa 24
Retinitis Pigmentosa 23 Retinitis Pigmentosa 34
Retinitis Pigmentosa 2 Retinitis Pigmentosa 6
Retinitis Pigmentosa 13 Retinitis Pigmentosa 12
Retinitis Pigmentosa 14 Retinitis Pigmentosa 11
Retinitis Pigmentosa 17 Retinitis Pigmentosa 18
Retinitis Pigmentosa 19 Retinitis Pigmentosa 22
Retinitis Pigmentosa 25 Retinitis Pigmentosa 28
Retinitis Pigmentosa 30 Retinitis Pigmentosa 7
Retinitis Pigmentosa 26 Retinitis Pigmentosa 32
Retinitis Pigmentosa 31 Retinitis Pigmentosa 35
Retinitis Pigmentosa 33 Retinitis Pigmentosa 36
Retinitis Pigmentosa 37 Retinitis Pigmentosa 41
Retinitis Pigmentosa 29 Retinitis Pigmentosa 46
Retinitis Pigmentosa 42 Retinitis Pigmentosa 50
Retinitis Pigmentosa 54 Retinitis Pigmentosa 51
Retinitis Pigmentosa 55 Retinitis Pigmentosa 56
Retinitis Pigmentosa 57 Retinitis Pigmentosa 58
Retinitis Pigmentosa 4 Retinitis Pigmentosa 27
Retinitis Pigmentosa 49 Retinitis Pigmentosa 47
Retinitis Pigmentosa 45 Retinitis Pigmentosa 44
Retinitis Pigmentosa 20 Retinitis Pigmentosa 40
Retinitis Pigmentosa 39 Retinitis Pigmentosa 43
Retinitis Pigmentosa 48 Retinitis Pigmentosa 59
Retinitis Pigmentosa 38 Retinitis Pigmentosa 60
Retinitis Pigmentosa 61 Retinitis Pigmentosa 62
Retinitis Pigmentosa 63 Retinitis Pigmentosa 66
Retinitis Pigmentosa 67 Retinitis Pigmentosa 68
Retinitis Pigmentosa 69 Retinitis Pigmentosa 70
Retinitis Pigmentosa 71 Retinitis Pigmentosa 72
Retinitis Pigmentosa 73 Retinitis Pigmentosa 74
Retinitis Pigmentosa 75 Retinitis Pigmentosa 76
Retinitis Pigmentosa 77 Retinitis Pigmentosa 78
Retinitis Pigmentosa 79 Retinitis Pigmentosa 80
Retinitis Pigmentosa 81 Retinitis Pigmentosa 83
Retinitis Pigmentosa 84 Retinitis Pigmentosa 85
Retinitis Pigmentosa 86 Retinitis Pigmentosa 88
Retinitis Pigmentosa 89 Retinitis Pigmentosa 90
Nonsyndromic Retinitis Pigmentosa

Diseases related to Retinitis Pigmentosa 2 via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 102)
# Related Disease Score Top Affiliating Genes
1 retinitis pigmentosa 3 31.7 RPGR RP2 PDE6D
2 retinitis pigmentosa 4 31.6 RPGR RP2
3 joubert syndrome 3 30.9 RPGR RP2 CEP290 ARL13B
4 cone-rod dystrophy 2 30.7 UNC119 RPGR RP2 PDE6D CEP290 ARL3
5 leber plus disease 29.9 RPGR RP2 PDE6D IFT20 CEP290 ARL3
6 primary ciliary dyskinesia 29.8 RPGR RP2 KIF17 IFT20 CEP290 ARL3
7 meckel syndrome, type 6 29.3 KIF17 CEP290 ARL13B
8 retinal disease 29.2 UNC119 RPGR RP2 CEP290 ARF4
9 fundus dystrophy 28.9 UNC119B UNC119 TIMP1 RPGR RP2 PDE6D
10 joubert syndrome 1 28.8 UNC119B UNC119 RPGR RP2 PDE6D KIF17
11 retinitis pigmentosa 26.4 UNC119B UNC119 TNPO1 TIMP1 TBCE TBCD
12 night blindness 11.1
13 pattern dystrophy 10.9
14 neuroretinitis 10.6
15 retinitis 10.6
16 retinal degeneration 10.4
17 retinitis pigmentosa 66 10.2 ARL3 ARL2BP ARL2
18 hypoparathyroidism-retardation-dysmorphism syndrome 10.2 TBCE TBCD ARL2
19 retinitis pigmentosa 34 10.2 RPGR PDE6D
20 myopia 10.1
21 nonsyndromic retinitis pigmentosa 10.1
22 caffey disease 10.1 TBCE TBCD TBCC ARL2
23 optic disk drusen 10.1 UNC119B RPGR
24 cone-rod dystrophy 6 10.1 RPGR PDE6D ARL3
25 joubert syndrome 2 10.0 CEP290 ARL13B
26 yemenite deaf-blind hypopigmentation syndrome 10.0
27 helix syndrome 10.0
28 cone dystrophy 10.0
29 microphthalmia 10.0
30 eye disease 10.0
31 myeloma, multiple 9.9
32 refractive error 9.9
33 inherited retinal disorder 9.9
34 polycystic kidney disease 2 with or without polycystic liver disease 9.9 KIF17 IFT20 ARL13B
35 joubert syndrome 24 9.9 CEP290 ARL13B
36 joubert syndrome 9 9.9 CEP290 ARL13B
37 joubert syndrome 13 9.8 CEP290 ARL13B
38 leber congenital amaurosis 10 9.8 RPGR CEP290
39 eye degenerative disease 9.8 RPGR CEP290 ARL3
40 joubert syndrome 7 9.8 CEP290 ARL13B
41 joubert syndrome 22 9.8 UNC119B UNC119 PDE6D ARL3
42 bardet-biedl syndrome 3 9.8 CEP290 ARL3 ARL13A
43 nephronophthisis 19 9.8 RPGR CEP290
44 otitis media 9.8
45 prostate cancer 9.8
46 neural tube defects 9.8
47 type 1 diabetes mellitus 9.8
48 ciliary dyskinesia, primary, 1 9.8
49 3-methylglutaconic aciduria, type iii 9.8
50 night blindness, congenital stationary, type 2a 9.8

Graphical network of the top 20 diseases related to Retinitis Pigmentosa 2:



Diseases related to Retinitis Pigmentosa 2

Symptoms & Phenotypes for Retinitis Pigmentosa 2

Human phenotypes related to Retinitis Pigmentosa 2:

31 (show all 7)
# Description HPO Frequency HPO Source Accession
1 cataract 31 HP:0000518
2 myopia 31 HP:0000545
3 nyctalopia 31 HP:0000662
4 rod-cone dystrophy 31 HP:0000510
5 pigmentary retinopathy 31 HP:0000580
6 constriction of peripheral visual field 31 HP:0001133
7 chorioretinal degeneration 31 HP:0200065

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
Head And Neck Eyes:
cataract
pigmentary retinopathy
night blindness
retinitis pigmentosa
constricted visual fields
more

Clinical features from OMIM®:

312600 (Updated 20-May-2021)

MGI Mouse Phenotypes related to Retinitis Pigmentosa 2:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 nervous system MP:0003631 9.7 ARF4 ARL13B ARL2BP ARL3 CEP290 IFT20
2 vision/eye MP:0005391 9.32 ARL13B ARL2BP ARL3 CEP290 IFT20 PDE6D

Drugs & Therapeutics for Retinitis Pigmentosa 2

Search Clinical Trials , NIH Clinical Center for Retinitis Pigmentosa 2

Genetic Tests for Retinitis Pigmentosa 2

Genetic tests related to Retinitis Pigmentosa 2:

# Genetic test Affiliating Genes
1 Retinitis Pigmentosa 2 29 RP2

Anatomical Context for Retinitis Pigmentosa 2

MalaCards organs/tissues related to Retinitis Pigmentosa 2:

40
Eye, Retina, Kidney, Liver, Prostate, Myeloid

Publications for Retinitis Pigmentosa 2

Articles related to Retinitis Pigmentosa 2:

(show top 50) (show all 102)
# Title Authors PMID Year
1
Positional cloning of the gene for X-linked retinitis pigmentosa 2. 6 57 61
9697692 1998
2
Identification of novel RP2 mutations in a subset of X-linked retinitis pigmentosa families and prediction of new domains. 6 57
11462235 2001
3
Mutations in the N-terminus of the X-linked retinitis pigmentosa protein RP2 interfere with the normal targeting of the protein to the plasma membrane. 57 6
10942419 2000
4
Localization in the human retina of the X-linked retinitis pigmentosa protein RP2, its homologue cofactor C and the RP2 interacting protein Arl3. 61 57
12417528 2002
5
X-inactivation pattern in carriers of X-linked retinitis pigmentosa: a valuable means of prognostic evaluation? 57 61
8225316 1993
6
Long-Range PCR-Based NGS Applications to Diagnose Mendelian Retinal Diseases. 6
33546218 2021
7
Visual Function in Carriers of X-Linked Retinitis Pigmentosa. 57
26143542 2015
8
Intellectual disability associated with retinal dystrophy in the Xp11.3 deletion syndrome: ZNF674 on trial. Guilty or innocent? 57
22126752 2012
9
Comprehensive survey of mutations in RP2 and RPGR in patients affected with distinct retinal dystrophies: genotype-phenotype correlations and impact on genetic counseling. 57
16969763 2007
10
Arg120stop nonsense mutation in the RP2 gene: mutational hotspot and germ line mosaicism? 6
15032968 2004
11
RP2 and RPGR mutations and clinical correlations in patients with X-linked retinitis pigmentosa. 57
14564670 2003
12
Comparison of intraocular light scatter in carriers of choroideremia and X-linked retinitis pigmentosa. 57
11772598 2002
13
Mutations in the X-linked RP2 gene cause intracellular misrouting and loss of the protein. 57
11371510 2001
14
X-linked retinitis pigmentosa: mutation spectrum of the RPGR and RP2 genes and correlation with visual function. 6
10937588 2000
15
A longitudinal study of visual function in carriers of X-linked recessive retinitis pigmentosa. 57
10690843 2000
16
Mutations in the RP2 gene cause disease in 10% of families with familial X-linked retinitis pigmentosa assessed in this study. 6
10090907 1999
17
Protein-truncation mutations in the RP2 gene in a North American cohort of families with X-linked retinitis pigmentosa. 57
10053026 1999
18
Mapping the RP2 locus for X-linked retinitis pigmentosa on proximal Xp: a genetically defined 5-cM critical region and exclusion of candidate genes by physical mapping. 57
8938433 1996
19
Retinitis pigmentosa families showing apparent X linked inheritance but unlinked to the RP2 or RP3 loci. 57
7853368 1994
20
XLPRA: a canine retinal degeneration inherited as an X-linked trait. 57
7977457 1994
21
Heterogeneity analysis in 40 X-linked retinitis pigmentosa families. 57
8023838 1994
22
Phenotype-genotype correlations in X linked retinitis pigmentosa. 57
1357178 1992
23
X-linked retinitis pigmentosa: new map studies of XLRP2, and a possible human centromere effect. 57
1551673 1992
24
Genetic localisation of the RP2 type of X linked retinitis pigmentosa in a large kindred. 57
1895315 1991
25
Localization of the microsatellite probe DXS426 between DXS7 and DXS255 on Xp and linkage to X-linked retinitis pigmentosa. 57
2239970 1990
26
Clinical and genetic heterogeneity in retinitis pigmentosa. 57
2227956 1990
27
Linkage heterogeneity between X-linked retinitis pigmentosa and a map of 10 RFLP loci. 57
2570529 1989
28
A hypervariable microsatellite revealed by in vitro amplification of a dinucleotide repeat within the cardiac muscle actin gene. 57
2563634 1989
29
Abundant class of human DNA polymorphisms which can be typed using the polymerase chain reaction. 57
2916582 1989
30
Linkage of X-linked retinitis pigmentosa to the hypervariable DNA marker M27 beta (DXS255). 57
2921039 1989
31
Report of the committee on linkage and gene order. 57
2791656 1989
32
Linkage analysis of X linked retinitis pigmentosa in the Irish population. 57
3163380 1988
33
X-linked retinitis pigmentosa. Profile of clinical findings. 57
3257866 1988
34
Abnormal axonemes in X-linked retinitis pigmentosa. 57
3345154 1988
35
Linkage relationships between X-linked retinitis pigmentosa and nine short-arm markers: exclusion of the disease locus from Xp21 and localization to between DXS7 and DXS14. 57
3477957 1987
36
Genetic linkage between X-linked retinitis pigmentosa and DNA probe DXS7 (L1.28): further linkage data, heterogeneity testing, and risk estimation. 57
2876947 1986
37
A study of retinitis pigmentosa in the city of Birmingham. 57
3712401 1986
38
Linkage between the X-linked retinitis pigmentosa locus and the L1.28 locus. 57
4025464 1985
39
A genetic linkage study of a kindred with X-linked retinitis pigmentosa. 57
3994951 1985
40
X-linked retinitis pigmentosa: linkage with the centromere and a cloned DNA sequence from the proximal short arm of the X chromosome. 57
2995237 1985
41
Close genetic linkage between X-linked retinitis pigmentosa and a restriction fragment length polymorphism identified by recombinant DNA probe L1.28. 57
6325945 1984
42
X-linked retinitis pigmentosa: reduced rod flicker sensitivity in heterozygous females. 57
7239852 1981
43
Population genetic studies of retinitis pigmentosa. 57
7386458 1980
44
X-linked recessive retinitis pigmentosa and vitreous fluorophotometry. A study of female heterozygotes. 57
7352882 1980
45
X-linked retinitis pigmentosa. 57
1138842 1975
46
Pedigree analysis to determine the mode of inheritance in a family with retinitis pigmentosa. 57
4853565 1974
47
Linkage studies in X-linked retinitis pigmentosa. 57
5026847 1972
48
Sex-linked recessive retinitis pigmentosa. A preliminary study of the carriers. 57
5304427 1968
49
X-linked retinitis pigmentosa and linkage studies with the Xg blood-groups. 57
4164603 1967
50
Choroido-retinal dystrophy. 57
5832305 1965

Variations for Retinitis Pigmentosa 2

ClinVar genetic disease variations for Retinitis Pigmentosa 2:

6 (show all 14)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 RP2 NM_006915.3(RP2):c.16_18del (p.Ser6del) Deletion Pathogenic 10544 rs137852284 GRCh37: X:46696550-46696552
GRCh38: X:46837115-46837117
2 RP2 NM_006915.3(RP2):c.76C>T (p.Gln26Ter) SNV Pathogenic 10545 rs104894925 GRCh37: X:46696611-46696611
GRCh38: X:46837176-46837176
3 RP2 NM_006915.3(RP2):c.353G>A (p.Arg118His) SNV Pathogenic 10546 rs28933687 GRCh37: X:46713161-46713161
GRCh38: X:46853726-46853726
4 RP2 NM_006915.3(RP2):c.453C>G (p.Tyr151Ter) SNV Pathogenic 10547 rs104894926 GRCh37: X:46713261-46713261
GRCh38: X:46853826-46853826
5 RP2 RP2, 1-BP DEL Deletion Pathogenic 10548 GRCh37:
GRCh38:
6 RP2 NM_006915.3(RP2):c.353G>T (p.Arg118Leu) SNV Pathogenic 10549 rs28933687 GRCh37: X:46713161-46713161
GRCh38: X:46853726-46853726
7 RP2 RP2, 1-BP INS, 303T Insertion Pathogenic 10550 GRCh37:
GRCh38:
8 RP2 NM_006915.3(RP2):c.358C>T (p.Arg120Ter) SNV Pathogenic 10551 rs104894927 GRCh37: X:46713166-46713166
GRCh38: X:46853731-46853731
9 RP2 NM_006915.3(RP2):c.758del (p.Leu253fs) Deletion Likely pathogenic 635480 rs1602347992 GRCh37: X:46713566-46713566
GRCh38: X:46854131-46854131
10 RP2 NM_006915.3(RP2):c.409_411del (p.Ile137del) Deletion Likely pathogenic 860467 GRCh37: X:46713217-46713219
GRCh38: X:46853782-46853784
11 RP2 NM_006915.3(RP2):c.884-9T>A SNV Likely pathogenic 1048164 GRCh37: X:46736931-46736931
GRCh38: X:46877496-46877496
12 RP2 NM_006915.3(RP2):c.613G>A (p.Glu205Lys) SNV Uncertain significance 811614 rs138731990 GRCh37: X:46713421-46713421
GRCh38: X:46853986-46853986
13 RP2 NM_006915.3(RP2):c.314G>A (p.Cys105Tyr) SNV Uncertain significance 587389 rs1569531630 GRCh37: X:46713122-46713122
GRCh38: X:46853687-46853687
14 RP2 NM_006915.3(RP2):c.844C>T (p.Arg282Trp) SNV Benign 196444 rs1805147 GRCh37: X:46719498-46719498
GRCh38: X:46860063-46860063

UniProtKB/Swiss-Prot genetic disease variations for Retinitis Pigmentosa 2:

72
# Symbol AA change Variation ID SNP ID
1 RP2 p.Cys108Gly VAR_008498
2 RP2 p.Arg118His VAR_008499 rs28933687
3 RP2 p.Leu253Arg VAR_008500
4 RP2 p.Cys67Tyr VAR_018069
5 RP2 p.Cys86Tyr VAR_018070
6 RP2 p.Arg118Leu VAR_018072 rs28933687
7 RP2 p.Glu138Gly VAR_018074
8 RP2 p.Leu188Pro VAR_018075
9 RP2 p.Arg118Cys VAR_026058 rs155631863
10 RP2 p.Cys108Tyr VAR_068353

Expression for Retinitis Pigmentosa 2

Search GEO for disease gene expression data for Retinitis Pigmentosa 2.

Pathways for Retinitis Pigmentosa 2

GO Terms for Retinitis Pigmentosa 2

Cellular components related to Retinitis Pigmentosa 2 according to GeneCards Suite gene sharing:

(show all 12)
# Name GO ID Score Top Affiliating Genes
1 cytoplasm GO:0005737 10.34 UNC119 TNPO1 TBCE TBCD TBCCD1 TBCC
2 cell projection GO:0042995 10.02 UNC119B RPGR RP2 PDE6D KIF17 IFT20
3 centrosome GO:0005813 9.97 UNC119 TBCD RPGR IFT20 CEP290 ARL3
4 microtubule organizing center GO:0005815 9.81 UNC119 TBCD TBCCD1 RPGR KIF17 CEP290
5 microtubule GO:0005874 9.8 TBCE TBCD TBCC KIF17
6 ciliary basal body GO:0036064 9.8 RPGR RP2 KIF17 IFT20 CEP290
7 cytoskeleton GO:0005856 9.77 UNC119 TBCE TBCD TBCCD1 TBCC RPGR
8 motile cilium GO:0031514 9.76 RPGR IFT20 ARL13B ARL13A
9 centriole GO:0005814 9.69 RP2 IFT20 CEP290
10 photoreceptor connecting cilium GO:0032391 9.65 TBCC KIF17 IFT20 CEP290 ARL3
11 periciliary membrane compartment GO:1990075 9.48 RP2 KIF17
12 cilium GO:0005929 9.4 UNC119B TNPO1 RPGR RP2 PDE6D KIF17

Biological processes related to Retinitis Pigmentosa 2 according to GeneCards Suite gene sharing:

(show all 16)
# Name GO ID Score Top Affiliating Genes
1 protein transport GO:0015031 9.86 UNC119B UNC119 TNPO1 RP2 KIF17 CEP290
2 visual perception GO:0007601 9.8 UNC119 RPGR RP2 PDE6D
3 protein folding GO:0006457 9.78 TBCE TBCD TBCC RP2
4 cell projection organization GO:0030030 9.72 UNC119B RPGR KIF17 IFT20 CEP290
5 cell morphogenesis GO:0000902 9.7 TBCCD1 TBCC RP2
6 smoothened signaling pathway GO:0007224 9.69 IFT20 ARL3 ARL13B
7 cilium assembly GO:0060271 9.63 UNC119B RPGR IFT20 CEP290 ARL3 ARL13B
8 intraciliary transport involved in cilium assembly GO:0035735 9.61 TNPO1 KIF17 IFT20
9 protein localization to cilium GO:0061512 9.58 IFT20 ARL3 ARF4
10 post-Golgi vesicle-mediated transport GO:0006892 9.56 RP2 ARL3
11 maintenance of protein location in nucleus GO:0051457 9.55 ARL2BP ARL2
12 lipoprotein transport GO:0042953 9.54 UNC119B UNC119
13 intraciliary transport GO:0042073 9.54 RPGR IFT20 ARL3
14 receptor localization to non-motile cilium GO:0097500 9.46 ARL13B ARL13A
15 tubulin complex assembly GO:0007021 9.26 TBCE TBCD TBCC ARL2
16 post-chaperonin tubulin folding pathway GO:0007023 8.92 TBCE TBCD TBCC RP2

Molecular functions related to Retinitis Pigmentosa 2 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 GTPase activity GO:0003924 9.56 TBCC ARL3 ARL2 ARF4
2 chaperone binding GO:0051087 9.33 TBCE TBCD TBCC
3 GTP binding GO:0005525 9.1 RP2 ARL3 ARL2 ARL13B ARL13A ARF4
4 GTPase inhibitor activity GO:0005095 8.96 PDE6D ARL2

Sources for Retinitis Pigmentosa 2

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 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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