MCID: CHR081
MIFTS: 57

Choroideremia

Categories: Genetic diseases, Rare diseases, Eye diseases

Aliases & Classifications for Choroideremia

MalaCards integrated aliases for Choroideremia:

Name: Choroideremia 53 12 72 23 49 24 55 71 36 28 13 51 41 14 69
Chm 53 49 55 71
Tcd 53 49 24 71
Progressive Tapetochoroidal Dystrophy 49 24 71
Choroidal Sclerosis 24 69
Tapetochoroidal Dystrophy, Progressive; Tcd 53
Tapetochoroidal Dystrophy, Progressive 53
Progressive Choroidal Atrophy 12
Tapetochoroidal Dystrophy 55

Characteristics:

Orphanet epidemiological data:

55
choroideremia
Inheritance: X-linked recessive; Prevalence: 1-9/100000 (Europe); Age of onset: Adolescent,Adult,Childhood; Age of death: normal life expectancy;

OMIM:

53
Inheritance:
x-linked dominant

Miscellaneous:
onset in second to third decade
carrier females show a distinct flecked autofluorescence pattern


HPO:

31
choroideremia:
Inheritance x-linked dominant inheritance


Classifications:

Orphanet: 55  
Rare eye diseases


External Ids:

OMIM 53 303100
Disease Ontology 12 DOID:9821
ICD10 32 H31.21
ICD9CM 34 363.55
MeSH 41 D015794
NCIt 46 C34469
SNOMED-CT 64 75241009
Orphanet 55 ORPHA180
MESH via Orphanet 42 D015794
UMLS via Orphanet 70 C0008525
ICD10 via Orphanet 33 H31.2
KEGG 36 H01116
UMLS 69 C0008525

Summaries for Choroideremia

NIH Rare Diseases : 49 Choroideremia is a genetic condition that causes vision loss. This disorder typically affects males. The first symptom is usually impairment of night vision (night blindness), which can occur in childhood. People with this disorder also experience narrowing of the field of vision (tunnel vision) and decrease in the ability to see details (visual acuity). The vision problems are due to loss of cells in the retina (light sensitive part of the eye) and choroid (blood vessels in the eye). The vision issues tend to get worse over time and usually lead to blindness in late adulthood. The rate and degree of vision loss differs for each person. Choroideremia is caused by spelling mistakes (mutations) in the CHM gene and is inherited in an X-linked recessive pattern. Last updated: 1/13/2016

MalaCards based summary : Choroideremia, also known as chm, is related to leber congenital amaurosis 4 and choroidal dystrophy, central areolar, 1, and has symptoms including visual impairment, abnormality of retinal pigmentation and progressive visual loss. An important gene associated with Choroideremia is CHM (CHM, Rab Escort Protein 1), and among its related pathways/superpathways are Metabolism of fat-soluble vitamins and Phototransduction. The drugs Simvastatin and Anticholesteremic Agents have been mentioned in the context of this disorder. Affiliated tissues include eye, retina and testes, and related phenotypes are nervous system and pigmentation

Genetics Home Reference : 24 Choroideremia is a condition characterized by progressive vision loss that mainly affects males. The first symptom of this condition is usually an impairment of night vision (night blindness), which can occur in early childhood. A progressive narrowing of the field of vision (tunnel vision) follows, as well as a decrease in the ability to see details (visual acuity). These vision problems are due to an ongoing loss of cells (atrophy) in the specialized light-sensitive tissue that lines the back of the eye (retina) and a nearby network of blood vessels (the choroid). The vision impairment in choroideremia worsens over time, but the progression varies among affected individuals. However, all individuals with this condition will develop blindness, most commonly in late adulthood.

OMIM : 53 Choroideremia is an X-linked disease that leads to the degeneration of the choriocapillaris, the retinal pigment epithelium, and the photoreceptor of the eye (Cremers et al., 1990). The characteristic lesion of choroideremia is chorioretinal scalloped atrophy in the midperipheral fundus, with preservation of the macula (Li et al., 2014). See also choroideremia, deafness, and mental retardation (303110), a contiguous gene deletion syndrome involving the CHM and POU3F4 (300039) genes on Xq21. X-linked deafness-2 with stapes fixation (DFNX2; 304400) is also caused by mutation in the CHM gene. (303100)

UniProtKB/Swiss-Prot : 71 Choroideremia: An X-linked recessive disease characterized by a slowly progressive degeneration of the choroid, photoreceptors, and retinal pigment epithelium. Affected males develop night blindness in their teenage years followed by loss of peripheral vision and complete blindness at middle age. Carrier females are generally asymptomatic but funduscopic examination often shows patchy areas of chorioretinal atrophy.

Wikipedia : 72 Choroideremia (/kɒˌrɔɪdɪˈriːmiə/; CHM) is a rare, X-linked recessive form of hereditary retinal... more...

GeneReviews: NBK1337

Related Diseases for Choroideremia

Diseases related to Choroideremia via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 82)
# Related Disease Score Top Affiliating Genes
1 leber congenital amaurosis 4 29.9 GUCY2D RPE65
2 choroidal dystrophy, central areolar, 1 29.5 CYP4V2 GUCY2D
3 retinal degeneration 28.8 CHM GUCY2D RPE65
4 retinitis pigmentosa 28.5 CHM CYP4V2 GUCY2D RPE65 SERPINF1
5 choroideremia, deafness, and mental retardation 12.1
6 choroideremia hypopituitarism 12.1
7 ayazi syndrome 11.9
8 van den bosch syndrome 11.5
9 deafness, x-linked 2 11.1
10 retinitis 10.4
11 sickle cell anemia 10.2
12 eye degenerative disease 10.1 CYP4V2 GUCY2D
13 branchiootic syndrome 1 10.1
14 choroiditis 10.1
15 cone-rod dystrophy 6 10.0 CNGB3 GUCY2D
16 migraine with or without aura 1 9.9
17 carotid stenosis 9.9
18 cerebritis 9.9
19 aneurysm 9.9
20 retinitis pigmentosa-deafness syndrome 9.9
21 aging 9.9
22 usher syndrome 9.9
23 macular holes 9.9
24 usher syndrome, type iid 9.8
25 cataract 9.8
26 hypopituitarism 9.8
27 arteries, anomalies of 9.8
28 migraine with aura 9.8
29 intracranial aneurysm 9.8
30 migraine without aura 9.8
31 carotid artery disease 9.8
32 carotid artery dissection 9.8
33 atrial septal aneurysm 9.8
34 leber congenital amaurosis 12 9.8 GUCY2D RPE65
35 red-green color blindness 9.7 CNGB3 RPE65
36 retinal detachment 9.7
37 gyrate atrophy of choroid and retina 9.7
38 oliver-mcfarlane syndrome 9.7
39 body mass index quantitative trait locus 11 9.7
40 mental retardation, x-linked, syndromic, martin-probst type 9.7
41 kearns-sayre syndrome 9.7
42 body mass index quantitative trait locus 9 9.7
43 body mass index quantitative trait locus 8 9.7
44 polydactyly 9.7
45 body mass index quantitative trait locus 4 9.7
46 body mass index quantitative trait locus 10 9.7
47 body mass index quantitative trait locus 7 9.7
48 body mass index quantitative trait locus 12 9.7
49 body mass index quantitative trait locus 14 9.7
50 body mass index quantitative trait locus 18 9.7

Graphical network of the top 20 diseases related to Choroideremia:



Diseases related to Choroideremia

Symptoms & Phenotypes for Choroideremia

Symptoms via clinical synopsis from OMIM:

53
Head And Neck Eyes:
choroidal sclerosis
night blindness (occurs first)
constricted visual fields (occurs second)
reduced central vision (occurs last)
atrophy around the optic disc (in carrier females)
more

Clinical features from OMIM:

303100

Human phenotypes related to Choroideremia:

55 31 (show all 12)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 visual impairment 55 31 hallmark (90%) Very frequent (99-80%) HP:0000505
2 abnormality of retinal pigmentation 55 31 hallmark (90%) Very frequent (99-80%) HP:0007703
3 progressive visual loss 55 31 frequent (33%) Frequent (79-30%) HP:0000529
4 abnormal electroretinogram 55 31 hallmark (90%) Very frequent (99-80%) HP:0000512
5 myopia 55 31 hallmark (90%) Very frequent (99-80%) HP:0000545
6 nyctalopia 55 31 hallmark (90%) Very frequent (99-80%) HP:0000662
7 abnormality of the eye 55 Very frequent (99-80%)
8 abnormality of vision 55 Very frequent (99-80%)
9 choroideremia 31 HP:0001139
10 chorioretinal atrophy 31 HP:0000533
11 chorioretinal degeneration 31 HP:0200065
12 constriction of peripheral visual field 31 HP:0001133

MGI Mouse Phenotypes related to Choroideremia:

43
# Description MGI Source Accession Score Top Affiliating Genes
1 nervous system MP:0003631 9.76 ARSA CHM CNGB3 GUCY2D POU3F4 RAB27A
2 pigmentation MP:0001186 9.35 CHM RAB27A RABGGTA RPE65 SERPINF1
3 vision/eye MP:0005391 9.17 CHM CNGB3 CYP4V2 GUCY2D RAB27A RPE65

Drugs & Therapeutics for Choroideremia

Drugs for Choroideremia (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 12)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Simvastatin Approved Phase 1, Phase 2 79902-63-9 54454
2 Anticholesteremic Agents Phase 1, Phase 2
3 Antimetabolites Phase 1, Phase 2
4 Hydroxymethylglutaryl-CoA Reductase Inhibitors Phase 1, Phase 2
5 Hypolipidemic Agents Phase 1, Phase 2
6 Lipid Regulating Agents Phase 1, Phase 2
7
Ornithine Approved, Nutraceutical 70-26-8, 3184-13-2 6262
8
Pyridoxal Approved, Nutraceutical 66-72-8 1050
9
Pyridoxal Phosphate Approved, Investigational, Nutraceutical 54-47-7 1051
10
Pyridoxine Approved, Investigational, Nutraceutical, Vet_approved 65-23-6 1054
11 Vitamin B 6
12 arginine Nutraceutical

Interventional clinical trials:

(show all 19)

# Name Status NCT ID Phase Drugs
1 Choroideremia Gene Therapy Clinical Trial Completed NCT02553135 Phase 2
2 An Open Label Clinical Trial of Retinal Gene Therapy for Choroideremia Completed NCT02077361 Phase 1, Phase 2
3 Gene Therapy for Blindness Caused by Choroideremia Completed NCT01461213 Phase 1, Phase 2 rAAV2.REP1
4 A Study of Encapsulated Cell Technology (ECT) Implant for Patients With Late Stage Retinitis Pigmentosa Completed NCT00447993 Phase 2 NT-501;NT-501
5 A Study of Encapsulated Cell Technology (ECT) Implant for Participants With Early Stage Retinitis Pigmentosa Completed NCT00447980 Phase 2 NT-501;NT-501
6 REP1 Gene Replacement Therapy for Choroideremia Recruiting NCT02407678 Phase 2
7 THOR - Tübingen Choroideremia Gene Therapy Trial Active, not recruiting NCT02671539 Phase 2
8 Safety and Dose Escalation Study of AAV2-hCHM in Subjects With CHM (Choroideremia) Gene Mutations Active, not recruiting NCT02341807 Phase 1, Phase 2
9 The Short-term Effects of Simvastatin on the Vision of Males Affected by Choroideremia Terminated NCT01654562 Phase 1, Phase 2 Simvastatin
10 IRIS PILOT - Extended Pilot Study With a Retinal Implant System Unknown status NCT00427180
11 Pilot Study of a Suprachoroidal Retinal Prosthesis Completed NCT01603576
12 Restoring Vision With the Intelligent Retinal Implant System (IRIS V1)in Patients With Retinal Dystrophy Completed NCT01864486
13 Gyrate Atrophy of the Choroid and Retina Completed NCT00001166
14 Natural History of the Progression of Choroideremia Study Recruiting NCT03359551
15 "Natural History" Study of Choroideremia Recruiting NCT02994368
16 Inherited Retinal Degenerative Disease Registry Recruiting NCT02435940
17 High Resolution Retinal Imaging Recruiting NCT01866371
18 Compensation for Blindness With the Intelligent Retinal Implant System (IRIS V2) in Patients With Retinal Dystrophy Active, not recruiting NCT02670980
19 Study of a Suprachoroidal Retinal Prosthesis Enrolling by invitation NCT03406416

Search NIH Clinical Center for Choroideremia

Cochrane evidence based reviews: choroideremia

Genetic Tests for Choroideremia

Genetic tests related to Choroideremia:

# Genetic test Affiliating Genes
1 Choroideremia 28 CHM

Anatomical Context for Choroideremia

MalaCards organs/tissues related to Choroideremia:

38
Eye, Retina, Testes, Pituitary, Brain, Endothelial, Monocytes

Publications for Choroideremia

Articles related to Choroideremia:

(show top 50) (show all 288)
# Title Authors Year
1
Evaluation of amplification refractory mutation system (ARMS) technique for quick and accurate prenatal gene diagnosis of<i>CHM</i>variant in choroideremia. ( 29296092 )
2018
2
Automated detection of preserved photoreceptor on optical coherence tomography in choroideremia based on machine learning. ( 29341445 )
2018
3
Misdiagnosis of X-linked retinitis pigmentosa in a choroideremia patient with heavily pigmented fundi. ( 29377744 )
2018
4
Use of induced pluripotent stem cell models to probe the pathogenesis of Choroideremia and to develop a potential treatment. ( 29414605 )
2018
5
Novel mutation in the choroideremia gene and multi-Mendelian phenotypes in Spanish families. ( 29367200 )
2018
6
Colour discrimination ellipses in choroideremia. ( 29404760 )
2018
7
Retinal Gene Therapy for Choroideremia: In Vitro Testing for Gene Augmentation Using an Adeno-Associated Viral (AAV) Vector. ( 29188508 )
2018
8
Choriocapillaris evaluation in choroideremia using optical coherence tomography angiography. ( 28101400 )
2017
9
Characterizing the Natural History of Visual Function in Choroideremia Using Microperimetry and Multimodal Retinal Imaging. ( 29084330 )
2017
10
Single-base substitutions in the CHM promoter as a cause of choroideremia. ( 28271586 )
2017
11
THE NATURAL HISTORY OF FULL-FIELD STIMULUS THRESHOLD DECLINE IN CHOROIDEREMIA. ( 28800019 )
2017
12
CHOROIDEREMIA ASSOCIATED WITH A NOVEL SYNONYMOUS MUTATION IN GENE ENCODING REP-1. ( 29045269 )
2017
13
Re: Khan etA al.: Clinical and genetic features of choroideremia in childhood (Ophthalmology. 2016;123:2158-2165). ( 28645346 )
2017
14
Diagnosis for choroideremia in a large Chinese pedigree by nexta89generation sequencing (NGS) and nona89invasive prenatal testing (NIPT). ( 28098911 )
2017
15
LONG-TERM FOLLOW-UP OF PATIENTS WITH CHOROIDEREMIA WITH SCLERAL PITS AND TUNNELS AS A NOVEL OBSERVATION. ( 28937528 )
2017
16
Outcome of Full-Thickness Macular Hole Surgery in Choroideremia. ( 28753983 )
2017
17
Optical coherence tomography angiography and fundus autofluorescence in the eyes with choroideremia. ( 28062428 )
2017
18
Identification of Pathogenic Variants in the CHM Gene in Two Korean Patients With Choroideremia. ( 28643494 )
2017
19
SCLERAL PITS IN CHOROIDEREMIA: Implications for Retinal Gene Therapy. ( 29160785 )
2017
20
Identifying characteristic features of the retinal and choroidal vasculature in choroideremia using optical coherence tomography angiography. ( 29148533 )
2017
21
Retinal dystrophy and subretinal drusenoid deposits in female choroideremia carriers. ( 28752371 )
2017
22
Measurement and Reproducibility of Preserved Ellipsoid Zone Area and Preserved RPE Area in a Cohort of Eyes with Choroideremia. ( 28499705 )
2017
23
Novel non-contiguous exon duplication in choroideremia. ( 28369842 )
2017
24
A maternally inherited 8.05A Mb Xq21 deletion associated with Choroideremia, deafness, and mental retardation syndrome in a male patient. ( 28630650 )
2017
25
Quantitative and Qualitative Features of Spectral-Domain Optical Coherence Tomography Provide Prognostic Indicators for Visual Acuity in Patients With Choroideremia. ( 28902331 )
2017
26
Rep1 copy number variation is an important genetic cause of choroideremia in Chinese patients. ( 28774736 )
2017
27
Choroideremia: melanopsin-mediated postillumination pupil relaxation is abnormally slow. ( 28271634 )
2017
28
Pathogenicity of a novel missense variant associated with choroideremia and its impact on gene replacement therapy. ( 28911202 )
2017
29
Choroideremia. ( 28520608 )
2017
30
Functional rescue of REP1 following treatment with PTC124 and novel derivative PTC-414 in human choroideremia fibroblasts and the nonsense-mediated zebrafish model. ( 27329764 )
2016
31
A Qualitative and Quantitative Assessment of Fundus Autofluorescence Patterns in Patients With Choroideremia. ( 27750291 )
2016
32
Microperimetry as an Outcome Measure in Choroideremia Trials: Reproducibility and Beyond. ( 27537265 )
2016
33
Autofluorescence Lifetimes in Patients With Choroideremia Identify Photoreceptors in Areas With Retinal Pigment Epithelium Atrophy. ( 27951593 )
2016
34
Clinical Evaluation and Cone Alterations in Choroideremia. ( 26992839 )
2016
35
PHENOTYPING CHOROIDEREMIA AND ITS CARRIER STATE WITH MULTIMODAL IMAGING TECHNIQUES. ( 27599108 )
2016
36
Optical Coherence Tomography Angiography in Choroideremia: Correlating Choriocapillaris Loss With Overlying Degeneration. ( 27149258 )
2016
37
Correlation of Optical Coherence Tomography and Autofluorescence in the Outer Retina and Choroid of Patients With Choroideremia. ( 27403996 )
2016
38
The Spectrum of CHM Gene Mutations in Choroideremia and Their Relationship to Clinical Phenotype. ( 27820636 )
2016
39
Choroideremia research: Report and perspectives on the second international scientific symposium for choroideremia. ( 26855058 )
2016
40
Analysis of a large choroideremia dataset does not suggest a preference for inclusion of certain genotypes in future trials of gene therapy. ( 27247961 )
2016
41
Visual Acuity after Retinal Gene Therapy for Choroideremia. ( 27120491 )
2016
42
Natural History of the Central Structural Abnormalities in Choroideremia: A Prospective Cross-Sectional Study. ( 27986385 )
2016
43
Multimodal Imaging of Photoreceptor Structure in Choroideremia. ( 27936069 )
2016
44
Novel CHM mutations identified in Chinese families with Choroideremia. ( 27739455 )
2016
45
A Comprehensive Analysis of Choroideremia: From Genetic Characterization to Clinical Practice. ( 27070432 )
2016
46
Clinical and Genetic Features of Choroideremia in Childhood. ( 27506488 )
2016
47
Genetic analysis and clinical phenotype of two Indian families with X-linked choroideremia. ( 28112135 )
2016
48
Visual Function and Central Retinal Structure in Choroideremia. ( 27409497 )
2016
49
A novel homozygous CYP4V2 variant (p.S121Y) associated with a choroideremia-like phenotype. ( 27348340 )
2016
50
Choroideremia Is a Systemic Disease With Lymphocyte Crystals and Plasma Lipid and RBC Membrane Abnormalities. ( 26720468 )
2015

Variations for Choroideremia

UniProtKB/Swiss-Prot genetic disease variations for Choroideremia:

71
# Symbol AA change Variation ID SNP ID
1 CHM p.Gln471Leu VAR_008273
2 CHM p.His507Arg VAR_066847 rs397514603
3 CHM p.Leu550Pro VAR_066848

ClinVar genetic disease variations for Choroideremia:

6 (show all 16)
# Gene Variation Type Significance SNP ID Assembly Location
1 CHM NM_000390.3(CHM): c.1358_1359delCCinsGA (p.Ser453Ter) indel Pathogenic rs132630263 GRCh37 Chromosome X, 85155705: 85155706
2 CHM NM_000390.3(CHM): c.1484C> A (p.Ser495Ter) single nucleotide variant Pathogenic rs132630264 GRCh37 Chromosome X, 85149219: 85149219
3 CHM NM_000390.3(CHM): c.1471G> T (p.Glu491Ter) single nucleotide variant Pathogenic rs132630265 GRCh37 Chromosome X, 85149232: 85149232
4 CHM CHM, 1-BP DEL, GGA146GA, FS159TER deletion Pathogenic
5 CHM NM_000390.3(CHM): c.1584_1587delTGTT (p.Val529Hisfs) deletion Pathogenic rs587776746 GRCh37 Chromosome X, 85133992: 85133995
6 CHM NM_000390.3(CHM): c.1497C> A (p.Cys499Ter) single nucleotide variant Pathogenic rs132630267 GRCh37 Chromosome X, 85149206: 85149206
7 CHM NM_000390.3(CHM): c.877C> T (p.Arg293Ter) single nucleotide variant Pathogenic rs132630266 GRCh37 Chromosome X, 85212923: 85212923
8 CHM CHM, L1 INS insertion Pathogenic
9 CHM NM_000390.3(CHM): c.1520A> G (p.His507Arg) single nucleotide variant Pathogenic rs397514603 GRCh37 Chromosome X, 85134059: 85134059
10 CHM NM_000390.3(CHM): c.1609+2dupT duplication Pathogenic rs386833676 GRCh37 Chromosome X, 85133968: 85133968
11 CHM NM_000390.3(CHM): c.808C> T (p.Arg270Ter) single nucleotide variant Pathogenic rs527236048 GRCh37 Chromosome X, 85213877: 85213877
12 CHM NM_000390.3(CHM): c.116+1G> A single nucleotide variant Likely pathogenic rs786204761 GRCh37 Chromosome X, 85282494: 85282494
13 CHM NM_000390.3(CHM): c.715C> T (p.Arg239Ter) single nucleotide variant Pathogenic rs776256380 GRCh37 Chromosome X, 85213970: 85213970
14 CHM NM_000390.3(CHM): c.649_652delTACT (p.Tyr217Hisfs) deletion Pathogenic rs886043716 GRCh37 Chromosome X, 85218720: 85218723
15 CHM NM_000390.3(CHM): c.1A> G (p.Met1Val) single nucleotide variant Likely pathogenic rs1057516265 GRCh38 Chromosome X, 86047532: 86047532
16 GUCY2D GUCY2D, VAL933ALA undetermined variant Pathogenic

Copy number variations for Choroideremia from CNVD:

7
# CNVD ID Chromosom Start End Type Gene Symbol CNVD Disease
1 265570 X 84500000 86200000 Deletion REP-1 Choroideremia

Expression for Choroideremia

Search GEO for disease gene expression data for Choroideremia.

Pathways for Choroideremia

GO Terms for Choroideremia

Cellular components related to Choroideremia according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 melanosome membrane GO:0033162 8.96 RAB27A RAB7A
2 Rab-protein geranylgeranyltransferase complex GO:0005968 8.8 CHM CHML RABGGTA

Biological processes related to Choroideremia according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 post-translational protein modification GO:0043687 9.56 ARSA CHM CHML RABGGTA
2 response to stimulus GO:0050896 9.55 CHM CNGB3 CYP4V2 GUCY2D RPE65
3 protein geranylgeranylation GO:0018344 9.13 CHM CHML RABGGTA
4 visual perception GO:0007601 9.1 CHM CNGB3 CYP4V2 GUCY2D RABGGTA RPE65

Molecular functions related to Choroideremia according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 Rab GTPase binding GO:0017137 9.33 CHM CHML RABGGTA
2 GDP-dissociation inhibitor activity GO:0005092 8.96 CHM CHML
3 Rab geranylgeranyltransferase activity GO:0004663 8.62 CHM RABGGTA

Sources for Choroideremia

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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