RP7
MCID: RTN069
MIFTS: 44

Retinitis Pigmentosa 7 (RP7)

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

Aliases & Classifications for Retinitis Pigmentosa 7

MalaCards integrated aliases for Retinitis Pigmentosa 7:

Name: Retinitis Pigmentosa 7 57 12 20 72 29 13 6 15 70
Leber Congenital Amaurosis 18 57 72 29 6
Rp7 57 12 72
Retinitis Pigmentosa 7 and Digenic Form 57 29
Retinitis Pigmentosa 7, Digenic Form 57 29
Retinitis Pigmentosa 7, Digenic 29 6
Retinitis Pigmentosa 7 Digenic 72
Lca18 72
Rp 7 20

Characteristics:

OMIM®:

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

Miscellaneous:
homozygous patients have earlier-onset and more severe disease


HPO:

31

Classifications:



External Ids:

Disease Ontology 12 DOID:0110383
OMIM® 57 608133
OMIM Phenotypic Series 57 PS204000 PS268000
ICD10 32 H35.5
UMLS 70 C1842475

Summaries for Retinitis Pigmentosa 7

UniProtKB/Swiss-Prot : 72 Leber congenital amaurosis 18: 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 almost absent pupillary responses, photophobia, high hyperopia and keratoconus.
Retinitis pigmentosa 7: 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.

MalaCards based summary : Retinitis Pigmentosa 7, also known as leber congenital amaurosis 18, is related to retinitis and retinitis pigmentosa. An important gene associated with Retinitis Pigmentosa 7 is PRPH2 (Peripherin 2), and among its related pathways/superpathways are Metabolism of fat-soluble vitamins and Visual Cycle in Retinal Rods. Affiliated tissues include retina, eye and bone, and related phenotypes are chorioretinal atrophy and abnormal electroretinogram

Disease Ontology : 12 A retinitis pigmentosa that has material basis in mutation in the PRPH2 gene on chromosome 6p21.

More information from OMIM: 608133 PS204000 PS268000

Related Diseases for Retinitis Pigmentosa 7

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

(show top 50) (show all 63)
# Related Disease Score Top Affiliating Genes
1 retinitis 29.7 SNRNP200 RPGR RP9 ROM1 PRPH2 PDE6A
2 retinitis pigmentosa 28.2 TULP1 SNRNP200 RPGR RP9 ROM1 RGS9BP
3 cone-rod dystrophy 7 11.2
4 pattern dystrophy 10.4 ROM1 PRPH2
5 butterfly-shaped pigment dystrophy 10.4 ROM1 PRPH2
6 pseudoretinitis pigmentosa 10.3 TULP1 ROM1
7 retinitis pigmentosa 31 10.3 RPGR RP9
8 retinitis pigmentosa 19 10.3 RPGR RP9
9 retinitis pigmentosa 9 10.3 RP9 GUCA1B
10 retinitis pigmentosa 20 10.3 RPGR RP9
11 acquired night blindness 10.3 TULP1 RGS9BP
12 retinitis pigmentosa 17 10.3 RPGR RP9
13 exudative vitreoretinopathy 5 10.3 ROM1 PRPH2
14 retinitis pigmentosa 6 10.3 RPGR RP9
15 retinitis pigmentosa 1 10.3 ROM1 PRPH2 PDE6A
16 enhanced s-cone syndrome 10.2 RPGR ROM1 RGS9BP
17 leber congenital amaurosis 10 10.2 TULP1 RPGR
18 retinitis pigmentosa 25 10.2 RPGR PRPH2 PDE6A
19 retinitis pigmentosa 10 10.2 RPGR RP9
20 leber congenital amaurosis 12 10.2 GUCA1B GUCA1A
21 retinitis pigmentosa 14 10.2 TULP1 RPGR RP9
22 retinitis pigmentosa 33 10.2 SNRNP200 RP9
23 cone dystrophy 3 10.2 GUCA1B GUCA1A
24 stargardt disease 1 10.2 TULP1 ROM1 PRPH2
25 isolated macular dystrophy 10.2 PRPH2 GUCA1A
26 retinitis pigmentosa 39 10.2 RPGR RGS9BP PDE6A
27 nephronophthisis 4 10.2 RGS9BP PDE6A GUCA1B
28 senior-loken syndrome 1 10.2 TULP1 RPGR PRPH2
29 choroid disease 10.2 RPGR PRPH2
30 gyrate atrophy of choroid and retina 10.2 RPGR RP9 ROM1 PRPH2
31 macular dystrophy, dominant cystoid 10.2 TULP1 RPGR PDE6A
32 hereditary retinal dystrophy 10.2 PRPH2 PDE6A
33 bardet-biedl syndrome 4 10.2 RGS9BP GUCA1A
34 leber congenital amaurosis 4 10.2 TULP1 PDE6A
35 retinitis pigmentosa 4 10.1 SNRNP200 RPGR RP9
36 vitelliform macular dystrophy 10.1 RPGR ROM1 PRPH2 PDE6A
37 retinitis pigmentosa 13 10.1 SNRNP200 RPGR RP9
38 partial central choroid dystrophy 10.1 ROM1 PRPH2 GUCA1B GUCA1A
39 hereditary choroidal atrophy 10.1 ROM1 PRPH2 GUCA1B GUCA1A
40 usher syndrome, type iiia 10.1 TULP1 RP9 ROM1 PDE6A
41 choroidal dystrophy, central areolar, 1 10.1 ROM1 PRPH2 GUCA1B GUCA1A
42 usher syndrome type 2 10.1 TULP1 RPGR PRPH2 PDE6A
43 scotoma 10.0 RPGR GUCA1A
44 leber congenital amaurosis 2 10.0 TULP1 RPGR
45 leber congenital amaurosis 1 10.0 TULP1 PRPH2 GUCA1B GUCA1A
46 fundus albipunctatus 10.0 TULP1 RPGR ROM1 RGS9BP PRPH2
47 neuroretinitis 10.0
48 bardet-biedl syndrome 10.0 TULP1 RPGR ROM1 PRPH2 PDE6A
49 cone-rod dystrophy 6 9.9 RPGR PRPH2 PDE6A GUCA1B GUCA1A
50 digenic disease 9.9 PRPH2 PDE6A GNB1

Graphical network of the top 20 diseases related to Retinitis Pigmentosa 7:



Diseases related to Retinitis Pigmentosa 7

Symptoms & Phenotypes for Retinitis Pigmentosa 7

Human phenotypes related to Retinitis Pigmentosa 7:

31 (show all 8)
# Description HPO Frequency HPO Source Accession
1 chorioretinal atrophy 31 occasional (7.5%) HP:0000533
2 abnormal electroretinogram 31 HP:0000512
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 attenuation of retinal blood vessels 31 HP:0007843
8 adult-onset night blindness 31 HP:0007830

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Head And Neck Eyes:
night blindness
constricted visual fields
narrowed vessels
bone-spicule pigmentation in midperiphery of retina
pigment deposits in macular region
more

Clinical features from OMIM®:

608133 (Updated 05-Apr-2021)

MGI Mouse Phenotypes related to Retinitis Pigmentosa 7:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 vision/eye MP:0005391 9.28 GNB1 GUCA1A GUCA1B PDE6A PRPH2 RGS9BP

Drugs & Therapeutics for Retinitis Pigmentosa 7

Search Clinical Trials , NIH Clinical Center for Retinitis Pigmentosa 7

Genetic Tests for Retinitis Pigmentosa 7

Genetic tests related to Retinitis Pigmentosa 7:

# Genetic test Affiliating Genes
1 Retinitis Pigmentosa 7 29 PRPH2 ROM1
2 Retinitis Pigmentosa 7, Digenic 29
3 Leber Congenital Amaurosis 18 29
4 Retinitis Pigmentosa 7, Digenic Form 29
5 Retinitis Pigmentosa 7 and Digenic Form 29

Anatomical Context for Retinitis Pigmentosa 7

MalaCards organs/tissues related to Retinitis Pigmentosa 7:

40
Retina, Eye, Bone

Publications for Retinitis Pigmentosa 7

Articles related to Retinitis Pigmentosa 7:

(show all 23)
# Title Authors PMID Year
1
Comprehensive molecular diagnosis of 179 Leber congenital amaurosis and juvenile retinitis pigmentosa patients by targeted next generation sequencing. 6 57
23847139 2013
2
Digenic retinitis pigmentosa due to mutations at the unlinked peripherin/RDS and ROM1 loci. 6 57
8202715 1994
3
A novel mutation (Asn244Lys) in the peripherin/RDS gene causing autosomal dominant retinitis pigmentosa associated with bull's-eye maculopathy detected by nonradioisotopic SSCP. 57 6
8020945 1994
4
Phenotypic variation including retinitis pigmentosa, pattern dystrophy, and fundus flavimaculatus in a single family with a deletion of codon 153 or 154 of the peripherin/RDS gene. 57 6
8240110 1993
5
Mutations in the human retinal degeneration slow (RDS) gene can cause either retinitis pigmentosa or macular dystrophy. 6 57
8485576 1993
6
A three-base-pair deletion in the peripherin-RDS gene in one form of retinitis pigmentosa. 6 57
1749427 1991
7
Mutations in the human retinal degeneration slow gene in autosomal dominant retinitis pigmentosa. 6 57
1684223 1991
8
Long-Range PCR-Based NGS Applications to Diagnose Mendelian Retinal Diseases. 6
33546218 2021
9
High prevalence of PRPH2 in autosomal dominant retinitis pigmentosa in france and characterization of biochemical and clinical features. 57
25447119 2015
10
Molecular characterization of peripherin-2 and rom-1 mutants responsible for digenic retinitis pigmentosa. 6
11297544 2001
11
Founder effect, seen in the British population, of the 172 peripherin/RDS mutation-and further refinement of genetic positioning of the peripherin/RDS gene. 6
9443872 1998
12
Extensive intrafamilial and interfamilial phenotypic variation among patients with autosomal dominant retinal dystrophy and mutations in the human RDS/peripherin gene. 6
7880786 1995
13
Mutations in the human peripherin/RDS gene associated with autosomal dominant retinitis pigmentosa. 6
8019570 1994
14
Heterozygous 'null allele' mutation in the human peripherin/RDS gene. 6
8111389 1993
15
Autosomal dominant retinitis pigmentosa (adRP; RP6): cosegregation of RP6 and the peripherin-RDS locus in a late-onset family of Irish origin. 57
1539599 1992
16
Autosomal dominant retinitis pigmentosa: localization of a disease gene (RP6) to the short arm of chromosome 6. 57
1783395 1991
17
Whole-exome sequencing in 168 Korean patients with inherited retinal degeneration. 61
33691693 2021
18
Preimplantation genetic diagnosis as a strategy to prevent having a child born with an heritable eye disease. 61
29781739 2018
19
Utility of molecular testing for related retinal dystrophies. 61
16767206 2006
20
Trends in blind registration in the adult population of the Republic of Ireland 1996-2003. 61
16488964 2006
21
Evaluation of the Night Vision Spectacles on patients with impaired night vision. 61
9987629 1999
22
[Iris nodules, ocular findings and blood grouping in neurofibromatosis]. 61
2702173 1989
23
[Fundamental study on the treatment of retinitis pigmentosa. 7]. 61
5691895 1968

Variations for Retinitis Pigmentosa 7

ClinVar genetic disease variations for Retinitis Pigmentosa 7:

6 (show all 21)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 ROM1 NM_000327.3(ROM1):c.239dup (p.Val81fs) Duplication Pathogenic 12997 rs1387102485 GRCh37: 11:62380989-62380990
GRCh38: 11:62613517-62613518
2 PRPH2 NM_000322.5(PRPH2):c.637T>C (p.Cys213Arg) SNV Pathogenic 98691 rs61755802 GRCh37: 6:42672294-42672294
GRCh38: 6:42704556-42704556
3 PRPH2 NM_000322.4(PRPH2):c.356_358delGCT (p.Cys119del) Microsatellite Pathogenic 13162 rs61755777 GRCh37: 6:42689715-42689717
GRCh38: 6:42721977-42721979
4 PRPH2 NM_000322.5(PRPH2):c.656_658del (p.Pro219del) Deletion Pathogenic 98697 rs61755807 GRCh37: 6:42672273-42672275
GRCh38: 6:42704535-42704537
5 PRPH2 NM_000322.5(PRPH2):c.732C>A (p.Asn244Lys) SNV Pathogenic 13172 rs61755816 GRCh37: 6:42672199-42672199
GRCh38: 6:42704461-42704461
6 PRPH2 NM_000322.5(PRPH2):c.458_460AGA[1] (p.Lys154del) Microsatellite Pathogenic 13178 rs61755786 GRCh37: 6:42689610-42689612
GRCh38: 6:42721872-42721874
7 PRPH2 NM_000322.5(PRPH2):c.136C>T (p.Arg46Ter) SNV Pathogenic 13179 rs61755771 GRCh37: 6:42689937-42689937
GRCh38: 6:42722199-42722199
8 PRPH2 PRPH2, 1-BP DEL, 1160T Deletion Pathogenic 13180 GRCh37:
GRCh38:
9 PRPH2 NM_000322.5(PRPH2):c.518A>T (p.Asp173Val) SNV Pathogenic 13181 rs61755794 GRCh37: 6:42689555-42689555
GRCh38: 6:42721817-42721817
10 PRPH2 NM_000322.5(PRPH2):c.647C>T (p.Pro216Leu) SNV Pathogenic 13164 rs61755806 GRCh37: 6:42672284-42672284
GRCh38: 6:42704546-42704546
11 PRPH2 NM_000322.5(PRPH2):c.554T>C (p.Leu185Pro) SNV Pathogenic 13165 rs121918563 GRCh37: 6:42689519-42689519
GRCh38: 6:42721781-42721781
12 PRPH2 NM_000322.5(PRPH2):c.554T>C (p.Leu185Pro) SNV Pathogenic 13165 rs121918563 GRCh37: 6:42689519-42689519
GRCh38: 6:42721781-42721781
13 ROM1 NM_000327.3(ROM1):c.339dup (p.Leu114fs) Duplication Pathogenic 12998 rs71458427 GRCh37: 11:62381083-62381084
GRCh38: 11:62613611-62613612
14 ROM1 NM_000327.3(ROM1):c.868del (p.Gln290fs) Deletion Pathogenic 196252 rs548233813 GRCh37: 11:62382123-62382123
GRCh38: 11:62614651-62614651
15 ROM1 NM_000327.4(ROM1):c.712del (p.Leu238fs) Deletion Pathogenic 866285 GRCh37: 11:62381847-62381847
GRCh38: 11:62614375-62614375
16 ROM1 NM_000327.3(ROM1):c.180dup (p.Val61fs) Duplication Pathogenic 632164 rs748976215 GRCh37: 11:62380932-62380933
GRCh38: 11:62613460-62613461
17 ROM1 NM_000327.4(ROM1):c.724C>T (p.Arg242Ter) SNV Pathogenic 879754 GRCh37: 11:62381863-62381863
GRCh38: 11:62614391-62614391
18 PRPH2 NM_000322.5(PRPH2):c.512T>G (p.Phe171Cys) SNV Likely pathogenic 1048139 GRCh37: 6:42689561-42689561
GRCh38: 6:42721823-42721823
19 ROM1 NM_000327.3(ROM1):c.339dup (p.Leu114fs) Duplication Conflicting interpretations of pathogenicity 12998 rs71458427 GRCh37: 11:62381083-62381084
GRCh38: 11:62613611-62613612
20 ROM1 NM_000327.3(ROM1):c.167C>T (p.Ser56Phe) SNV Uncertain significance 498297 rs199847029 GRCh37: 11:62380920-62380920
GRCh38: 11:62613448-62613448
21 ROM1 NM_000327.3(ROM1):c.812T>C (p.Met271Thr) SNV Benign 195063 rs137950927 GRCh37: 11:62381951-62381951
GRCh38: 11:62614479-62614479

UniProtKB/Swiss-Prot genetic disease variations for Retinitis Pigmentosa 7:

72 (show all 25)
# Symbol AA change Variation ID SNP ID
1 PRPH2 p.Arg13Trp VAR_006853 rs61754402
2 PRPH2 p.Leu45Phe VAR_006855 rs61755770
3 PRPH2 p.Leu126Arg VAR_006859
4 PRPH2 p.Arg142Trp VAR_006860 rs61755783
5 PRPH2 p.Lys153Arg VAR_006861 rs61755785
6 PRPH2 p.Cys165Tyr VAR_006864 rs61755788
7 PRPH2 p.Asp173Val VAR_006869 rs61755794
8 PRPH2 p.Leu185Pro VAR_006871 rs121918563
9 PRPH2 p.Gly208Asp VAR_006873 rs139185976
10 PRPH2 p.Pro210Arg VAR_006874 rs61755798
11 PRPH2 p.Pro210Ser VAR_006875 rs61755797
12 PRPH2 p.Phe211Leu VAR_006876 rs61755799
13 PRPH2 p.Ser212Gly VAR_006877 rs61755800
14 PRPH2 p.Cys214Ser VAR_006880 rs61755804
15 PRPH2 p.Pro216Leu VAR_006881 rs61755806
16 PRPH2 p.Pro216Ser VAR_006882 rs61755805
17 PRPH2 p.Asn244Lys VAR_006887 rs61755816
18 PRPH2 p.Gly266Asp VAR_006889 rs62645935
19 PRPH2 p.Leu126Pro VAR_075759
20 PRPH2 p.Tyr141Cys VAR_075761 rs61755781
21 PRPH2 p.Ser198Arg VAR_075762
22 PRPH2 p.Pro210Leu VAR_075764 rs61755798
23 PRPH2 p.Pro216Ala VAR_075765
24 PRPH2 p.Pro216Arg VAR_075766
25 PRPH2 p.Gly249Ser VAR_075768

Expression for Retinitis Pigmentosa 7

Search GEO for disease gene expression data for Retinitis Pigmentosa 7.

Pathways for Retinitis Pigmentosa 7

GO Terms for Retinitis Pigmentosa 7

Cellular components related to Retinitis Pigmentosa 7 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 cell projection GO:0042995 9.8 TULP1 RPGR ROM1 PRPH2 GUCA1B GUCA1A
2 photoreceptor disc membrane GO:0097381 9.46 PDE6A GUCA1B GUCA1A GNB1
3 photoreceptor outer segment membrane GO:0042622 9.43 ROM1 PDE6A GNB1
4 photoreceptor inner segment GO:0001917 9.35 TULP1 PRPH2 GUCA1B GUCA1A GNB1
5 photoreceptor outer segment GO:0001750 9.23 TULP1 RPGR ROM1 RGS9BP PRPH2 GUCA1B

Biological processes related to Retinitis Pigmentosa 7 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 response to stimulus GO:0050896 9.86 TULP1 RPGR ROM1 RGS9BP PRPH2 PDE6A
2 retina development in camera-type eye GO:0060041 9.55 TULP1 ROM1 PRPH2 PDE6A GNB1
3 regulation of rhodopsin mediated signaling pathway GO:0022400 9.5 PDE6A GUCA1B GUCA1A
4 photoreceptor cell outer segment organization GO:0035845 9.48 ROM1 PRPH2
5 rhodopsin mediated signaling pathway GO:0016056 9.46 PDE6A GNB1
6 positive regulation of guanylate cyclase activity GO:0031284 9.43 GUCA1B GUCA1A
7 protein heterooligomerization GO:0051291 9.4 ROM1 PRPH2
8 protein localization to photoreceptor outer segment GO:1903546 9.37 TULP1 ROM1
9 detection of light stimulus involved in visual perception GO:0050908 9.26 TULP1 ROM1 RGS9BP PRPH2
10 visual perception GO:0007601 9.23 TULP1 RPGR ROM1 RGS9BP PRPH2 PDE6A

Molecular functions related to Retinitis Pigmentosa 7 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 calcium sensitive guanylate cyclase activator activity GO:0008048 8.62 GUCA1B GUCA1A

Sources for Retinitis Pigmentosa 7

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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