LCA7
MCID: LBR017
MIFTS: 39

Leber Congenital Amaurosis 7 (LCA7)

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

Aliases & Classifications for Leber Congenital Amaurosis 7

MalaCards integrated aliases for Leber Congenital Amaurosis 7:

Name: Leber Congenital Amaurosis 7 57 12 20 72 29 13 6 15 70
Lca7 57 12 20 72
Leber Congenital Amaurosis, Type 7 39

Characteristics:

HPO:

31
leber congenital amaurosis 7:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0110333
OMIM® 57 613829
OMIM Phenotypic Series 57 PS204000
MeSH 44 D057130
ICD10 32 H35.5
MedGen 41 C3151192
UMLS 70 C3151192

Summaries for Leber Congenital Amaurosis 7

OMIM® : 57 Leber congenital amaurosis comprises a group of early-onset childhood retinal dystrophies characterized by vision loss, nystagmus, and severe retinal dysfunction. Patients usually present at birth with profound vision loss and pendular nystagmus. Electroretinogram (ERG) responses are usually nonrecordable. Other clinical findings may include high hypermetropia, photodysphoria, oculodigital sign, keratoconus, cataracts, and a variable appearance to the fundus (summary by Chung and Traboulsi, 2009). For a general description and a discussion of genetic heterogeneity of LCA, see 204000. (613829) (Updated 05-Apr-2021)

MalaCards based summary : Leber Congenital Amaurosis 7, also known as lca7, is related to retinitis pigmentosa 28 and cone-rod dystrophy 17. An important gene associated with Leber Congenital Amaurosis 7 is CRX (Cone-Rod Homeobox). Affiliated tissues include retina and eye, and related phenotypes are cataract and visual impairment

Disease Ontology : 12 A Leber congenital amaurosis that has material basis in mutation in the CRX gene on chromosome 19q13.

UniProtKB/Swiss-Prot : 72 Leber congenital amaurosis 7: 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.

Related Diseases for Leber Congenital Amaurosis 7

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

(show top 50) (show all 66)
# Related Disease Score Top Affiliating Genes
1 retinitis pigmentosa 28 10.1 LCA5 CRX
2 cone-rod dystrophy 17 10.1 GUCY2D AIPL1
3 cone-rod dystrophy 3 10.1 GUCY2D CRX
4 cone-rod dystrophy 12 10.1 GUCY2D AIPL1
5 yemenite deaf-blind hypopigmentation syndrome 10.0 GUCY2D AIPL1
6 retinitis pigmentosa 1 10.0 IMPDH1 CRX
7 color blindness 10.0 GUCY2D AIPL1
8 solar retinopathy 9.9 RDH12 CRB1
9 retinitis pigmentosa 25 9.9 LCA5 CRB1
10 pseudoretinitis pigmentosa 9.9 IMPDH1 CRB1
11 partial central choroid dystrophy 9.9 GUCY2D CRX AIPL1
12 hereditary choroidal atrophy 9.9 GUCY2D CRX AIPL1
13 severe early-childhood-onset retinal dystrophy 9.9 SPATA7 LCA5
14 chorioretinal scar 9.9 RDH12 CRB1
15 cone-rod dystrophy 8 9.9 LCA5 GUCY2D AIPL1
16 retinitis pigmentosa 63 9.9 SPATA7 CRX
17 optic nerve hypoplasia, bilateral 9.9 CRX CRB1
18 scotoma 9.9 GUCY2D CRB1
19 degeneration of macula and posterior pole 9.9 CRX CRB1
20 late-onset retinal degeneration 9.8 CRX CRB1
21 hereditary retinal dystrophy 9.8 GUCY2D CRX CRB1
22 retinoschisis 1, x-linked, juvenile 9.8 GUCY2D CRX CRB1
23 vitelliform macular dystrophy 9.8 GUCY2D CRX CRB1
24 stargardt disease 1 9.8 CRX CRB1
25 usher syndrome type 2 9.8 LCA5 GUCY2D CRB1
26 sensory system disease 9.7 GUCY2D CRX CRB1
27 nanophthalmos 9.7 LCA5 CRB1
28 fundus albipunctatus 9.5 RDH12 GUCY2D CRX CRB1
29 pseudopapilledema 9.5 RDH12 GUCY2D CRB1 AIPL1
30 pigmented paravenous chorioretinal atrophy 9.5 RDH12 GUCY2D CRB1 AIPL1
31 macular degeneration, age-related, 1 9.5 RDH12 GUCY2D CRX CRB1
32 choroidal dystrophy, central areolar, 1 9.5 SPATA7 GUCY2D CRX AIPL1
33 eye disease 9.5 RDH12 GUCY2D CRX CRB1
34 leber congenital amaurosis 14 9.4 SPATA7 RDH12 LCA5 AIPL1
35 leber congenital amaurosis 5 9.4 SPATA7 RDH12 LCA5 AIPL1
36 leber congenital amaurosis 13 9.4 SPATA7 RDH12 LCA5 AIPL1
37 congenital stationary night blindness 9.3 RDH12 GUCY2D CRX CRB1 AIPL1
38 usher syndrome, type iiia 9.3 RDH12 LCA5 IMPDH1 CRB1 AIPL1
39 leber congenital amaurosis 12 9.2 SPATA7 RDH12 LCA5 GUCY2D AIPL1
40 leber congenital amaurosis 11 9.2 SPATA7 RDH12 LCA5 IMPDH1 AIPL1
41 leber congenital amaurosis 15 9.2 SPATA7 RDH12 LCA5 IMPDH1 AIPL1
42 eye degenerative disease 9.0 RDH12 IMPDH1 GUCY2D CRX CRB1 AIPL1
43 retinal disease 9.0 RDH12 IMPDH1 GUCY2D CRX CRB1 AIPL1
44 achromatopsia 8.9 SPATA7 RDH12 GUCY2D CRX CRB1 AIPL1
45 usher syndrome 8.8 RDH12 LCA5 IMPDH1 GUCY2D CRX CRB1
46 cone dystrophy 8.7 SPATA7 RDH12 LCA5 GUCY2D CRX CRB1
47 bardet-biedl syndrome 8.7 SPATA7 RDH12 LCA5 GUCY2D CRX CRB1
48 leber congenital amaurosis 16 8.6 SPATA7 RDH12 LCA5 IMPDH1 GUCY2D CRB1
49 retinal degeneration 8.6 SPATA7 RDH12 IMPDH1 GUCY2D CRX CRB1
50 leber congenital amaurosis 1 8.4 SPATA7 RDH12 LCA5 IMPDH1 GUCY2D CRX

Graphical network of the top 20 diseases related to Leber Congenital Amaurosis 7:



Diseases related to Leber Congenital Amaurosis 7

Symptoms & Phenotypes for Leber Congenital Amaurosis 7

Human phenotypes related to Leber Congenital Amaurosis 7:

31 (show all 6)
# Description HPO Frequency HPO Source Accession
1 cataract 31 HP:0000518
2 visual impairment 31 HP:0000505
3 photophobia 31 HP:0000613
4 keratoconus 31 HP:0000563
5 pendular nystagmus 31 HP:0012043
6 undetectable electroretinogram 31 HP:0000550

Clinical features from OMIM®:

613829 (Updated 05-Apr-2021)

MGI Mouse Phenotypes related to Leber Congenital Amaurosis 7:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 nervous system MP:0003631 9.5 AIPL1 CRB1 CRX GUCY2D LCA5 RDH12
2 vision/eye MP:0005391 9.23 AIPL1 CRB1 CRX GUCY2D IMPDH1 LCA5

Drugs & Therapeutics for Leber Congenital Amaurosis 7

Search Clinical Trials , NIH Clinical Center for Leber Congenital Amaurosis 7

Genetic Tests for Leber Congenital Amaurosis 7

Genetic tests related to Leber Congenital Amaurosis 7:

# Genetic test Affiliating Genes
1 Leber Congenital Amaurosis 7 29 CRX

Anatomical Context for Leber Congenital Amaurosis 7

MalaCards organs/tissues related to Leber Congenital Amaurosis 7:

40
Retina, Eye

Publications for Leber Congenital Amaurosis 7

Articles related to Leber Congenital Amaurosis 7:

(show all 24)
# Title Authors PMID Year
1
Novel de novo mutation in CRX gene in a Japanese patient with leber congenital amaurosis. 57 6
12208271 2002
2
Leber congenital amaurosis caused by a homozygous mutation (R90W) in the homeodomain of the retinal transcription factor CRX: direct evidence for the involvement of CRX in the development of photoreceptor function. 6 57
9931337 1999
3
De novo mutations in the CRX homeobox gene associated with Leber congenital amaurosis. 6 57
9537410 1998
4
CNVs cause autosomal recessive genetic diseases with or without involvement of SNV/indels. 6
32576985 2020
5
Incomplete penetrance of CRX gene for autosomal dominant form of cone-rod dystrophy. 6
31215831 2019
6
Genetic profile and mutation spectrum of Leber congenital amaurosis in a larger Indian cohort using high throughput targeted re-sequencing. 6
29068479 2018
7
Next-generation sequencing identifies unexpected genotype-phenotype correlations in patients with retinitis pigmentosa. 6
30543658 2018
8
Diagnostic application of clinical exome sequencing in Leber congenital amaurosis. 6
28966547 2017
9
A novel CRX mutation by whole-exome sequencing in an autosomal dominant cone-rod dystrophy pedigree. 6
26682157 2015
10
The phenotypic variability of retinal dystrophies associated with mutations in CRX, with report of a novel macular dystrophy phenotype. 6
25270190 2014
11
A drosophila genetic resource of mutants to study mechanisms underlying human genetic diseases. 6
25259927 2014
12
Increasing the yield in targeted next-generation sequencing by implicating CNV analysis, non-coding exons and the overall variant load: the example of retinal dystrophies. 6
24265693 2013
13
Mutation discovered in a feline model of human congenital retinal blinding disease. 57
20053974 2010
14
Leber congenital amaurosis: clinical correlations with genotypes, gene therapy trials update, and future directions. 57
20006823 2009
15
Leber congenital amaurosis - a model for efficient genetic testing of heterogeneous disorders: LXIV Edward Jackson Memorial Lecture. 6
17964524 2007
16
Molecular genetics of autosomal dominant retinitis pigmentosa (ADRP): a comprehensive study of 43 Italian families. 6
15994872 2005
17
Evidence of autosomal dominant Leber congenital amaurosis (LCA) underlain by a CRX heterozygous null allele. 6
12843339 2003
18
Electrophysiologic and phenotypic features of an autosomal cone-rod dystrophy caused by a novel CRX mutation. 6
12359607 2002
19
Functional analysis of cone-rod homeobox (CRX) mutations associated with retinal dystrophy. 6
11971869 2002
20
Novel frameshift mutations in CRX associated with Leber congenital amaurosis. 6
11748859 2001
21
Mutations in the cone-rod homeobox gene are associated with the cone-rod dystrophy photoreceptor degeneration. 6
9427255 1997
22
Crx, a novel otx-like homeobox gene, shows photoreceptor-specific expression and regulates photoreceptor differentiation. 57
9390562 1997
23
PHENOTYPIC VARIABILITY OF RECESSIVE RDH12-ASSOCIATED RETINAL DYSTROPHY. 61
30134391 2019
24
Leber Congenital Amaurosis – RETIRED CHAPTER, FOR HISTORICAL REFERENCE ONLY 61
20301475 2004

Variations for Leber Congenital Amaurosis 7

ClinVar genetic disease variations for Leber Congenital Amaurosis 7:

6 (show top 50) (show all 221)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 CRX CRX, 2-BP DEL, GLU168 Deletion Pathogenic 7419 GRCh37:
GRCh38:
2 CRX CRX, 1-BP DEL, GLY217 Deletion Pathogenic 7420 GRCh37:
GRCh38:
3 CRX NM_000554.6(CRX):c.520del (p.Ala174fs) Deletion Pathogenic 99611 rs281865515 GRCh37: 19:48342843-48342843
GRCh38: 19:47839586-47839586
4 CRX NM_000554.6(CRX):c.529del (p.Ala177fs) Deletion Pathogenic 65614 rs61748449 GRCh37: 19:48342851-48342851
GRCh38: 19:47839594-47839594
5 CRX GRCh37/hg19 19q13.33(chr19:48328087-48339179) copy number loss Pathogenic 915983 GRCh37: 19:48328087-48339179
GRCh38:
6 CRX NM_000554.6(CRX):c.262_275del (p.Phe87_Lys88insTer) Deletion Pathogenic 938600 GRCh37: 19:48342585-48342598
GRCh38: 19:47839328-47839341
7 CRX NM_000554.6(CRX):c.661_*3038del (p.Tyr221fs) Deletion Pathogenic 939164 GRCh37: 19:48342985-48346262
GRCh38: 19:47839728-47843005
8 CRX NM_000554.6(CRX):c.152_153del (p.Leu51fs) Deletion Pathogenic 944597 GRCh37: 19:48339551-48339552
GRCh38: 19:47836294-47836295
9 CRX NM_000554.6(CRX):c.500_501del (p.Ala166_Ser167insTer) Deletion Pathogenic 803571 rs1599991611 GRCh37: 19:48342824-48342825
GRCh38: 19:47839567-47839568
10 CRX NM_000554.6(CRX):c.447dup (p.Ser150fs) Duplication Pathogenic 99607 rs61748444 GRCh37: 19:48342767-48342768
GRCh38: 19:47839510-47839511
11 CRX NM_000554.6(CRX):c.489G>A (p.Trp163Ter) SNV Pathogenic 973898 GRCh37: 19:48342813-48342813
GRCh38: 19:47839556-47839556
12 CRX NM_000554.6(CRX):c.512del (p.Leu171fs) Deletion Pathogenic 973899 GRCh37: 19:48342834-48342834
GRCh38: 19:47839577-47839577
13 CRX NM_000554.6(CRX):c.523C>T (p.Gln175Ter) SNV Pathogenic 973900 GRCh37: 19:48342847-48342847
GRCh38: 19:47839590-47839590
14 CRX NM_000554.6(CRX):c.549del (p.Pro184fs) Deletion Pathogenic 973901 GRCh37: 19:48342871-48342871
GRCh38: 19:47839614-47839614
15 CRX NM_000554.6(CRX):c.570del (p.Tyr191fs) Deletion Pathogenic 973902 GRCh37: 19:48342890-48342890
GRCh38: 19:47839633-47839633
16 CRX NM_000554.6(CRX):c.585C>A (p.Tyr195Ter) SNV Pathogenic 973903 GRCh37: 19:48342909-48342909
GRCh38: 19:47839652-47839652
17 CRX NM_000554.6(CRX):c.695del (p.Pro232fs) Deletion Pathogenic 191298 rs786205630 GRCh37: 19:48343017-48343017
GRCh38: 19:47839760-47839760
18 CRX NM_000554.6(CRX):c.816del (p.Thr273fs) Deletion Pathogenic 973904 GRCh37: 19:48343137-48343137
GRCh38: 19:47839880-47839880
19 CRX NM_000554.6(CRX):c.191del (p.Pro64fs) Deletion Pathogenic 973905 GRCh37: 19:48339588-48339588
GRCh38: 19:47836331-47836331
20 CRX NM_000554.6(CRX):c.450del (p.Gly151fs) Deletion Pathogenic 973941 GRCh37: 19:48342774-48342774
GRCh38: 19:47839517-47839517
21 CRX NM_000554.6(CRX):c.458del (p.Pro153fs) Deletion Pathogenic 973942 GRCh37: 19:48342779-48342779
GRCh38: 19:47839522-47839522
22 CRX NM_000554.6(CRX):c.449C>G (p.Ser150Ter) SNV Pathogenic 218921 rs864309706 GRCh37: 19:48342773-48342773
GRCh38: 19:47839516-47839516
23 CRX NM_000554.6(CRX):c.404del (p.Pro135fs) Deletion Pathogenic 425192 rs1064797246 GRCh37: 19:48342726-48342726
GRCh38: 19:47839469-47839469
24 CRX NM_000554.6(CRX):c.122G>A (p.Arg41Gln) SNV Pathogenic 7421 rs61748436 GRCh37: 19:48339521-48339521
GRCh38: 19:47836264-47836264
25 CRX NM_000554.6(CRX):c.268C>T (p.Arg90Trp) SNV Pathogenic 7422 rs104894673 GRCh37: 19:48342592-48342592
GRCh38: 19:47839335-47839335
26 CRX NM_000554.6(CRX):c.565del (p.Ala189fs) Deletion Likely pathogenic 599149 rs1568626289 GRCh37: 19:48342889-48342889
GRCh38: 19:47839632-47839632
27 CRX NM_000554.6(CRX):c.101-1G>T SNV Likely pathogenic 858053 GRCh37: 19:48339499-48339499
GRCh38: 19:47836242-47836242
28 CRX NM_000554.6(CRX):c.124G>A (p.Glu42Lys) SNV Likely pathogenic 216914 rs863224863 GRCh37: 19:48339523-48339523
GRCh38: 19:47836266-47836266
29 CRX NM_000554.6(CRX):c.*2880T>C SNV Uncertain significance 329775 rs142202442 GRCh37: 19:48346104-48346104
GRCh38: 19:47842847-47842847
30 CRX NM_000554.6(CRX):c.*809C>G SNV Uncertain significance 329725 rs574128797 GRCh37: 19:48344033-48344033
GRCh38: 19:47840776-47840776
31 CRX NM_000554.6(CRX):c.*2821G>A SNV Uncertain significance 329773 rs571610746 GRCh37: 19:48346045-48346045
GRCh38: 19:47842788-47842788
32 CRX NM_000554.6(CRX):c.*996C>G SNV Uncertain significance 329732 rs550939154 GRCh37: 19:48344220-48344220
GRCh38: 19:47840963-47840963
33 CRX NM_000554.6(CRX):c.*2573C>T SNV Uncertain significance 329766 rs886054559 GRCh37: 19:48345797-48345797
GRCh38: 19:47842540-47842540
34 CRX NM_000554.6(CRX):c.*2539C>T SNV Uncertain significance 329764 rs146417527 GRCh37: 19:48345763-48345763
GRCh38: 19:47842506-47842506
35 CRX NM_000554.6(CRX):c.*746T>C SNV Uncertain significance 329721 rs886054552 GRCh37: 19:48343970-48343970
GRCh38: 19:47840713-47840713
36 CRX NM_000554.6(CRX):c.-55C>T SNV Uncertain significance 329691 rs886054543 GRCh37: 19:48325248-48325248
GRCh38: 19:47821991-47821991
37 CRX NM_000554.6(CRX):c.*118C>A SNV Uncertain significance 329702 rs543729483 GRCh37: 19:48343342-48343342
GRCh38: 19:47840085-47840085
38 CRX NM_000554.6(CRX):c.*907C>T SNV Uncertain significance 329728 rs559582292 GRCh37: 19:48344131-48344131
GRCh38: 19:47840874-47840874
39 CRX NM_000554.6(CRX):c.*1759G>T SNV Uncertain significance 329746 rs886054558 GRCh37: 19:48344983-48344983
GRCh38: 19:47841726-47841726
40 CRX NM_000554.6(CRX):c.*1149G>A SNV Uncertain significance 329737 rs886054555 GRCh37: 19:48344373-48344373
GRCh38: 19:47841116-47841116
41 CRX NM_000554.6(CRX):c.597C>T (p.Ser199=) SNV Uncertain significance 99617 rs61748455 GRCh37: 19:48342921-48342921
GRCh38: 19:47839664-47839664
42 CRX NM_000554.6(CRX):c.*2850G>A SNV Uncertain significance 329774 rs769789306 GRCh37: 19:48346074-48346074
GRCh38: 19:47842817-47842817
43 CRX NM_000554.6(CRX):c.717C>A (p.Gly239=) SNV Uncertain significance 329698 rs886054546 GRCh37: 19:48343041-48343041
GRCh38: 19:47839784-47839784
44 CRX NM_000554.6(CRX):c.*1309T>C SNV Uncertain significance 329740 rs886054556 GRCh37: 19:48344533-48344533
GRCh38: 19:47841276-47841276
45 CRX NM_000554.6(CRX):c.*132G>A SNV Uncertain significance 329703 rs886054548 GRCh37: 19:48343356-48343356
GRCh38: 19:47840099-47840099
46 CRX NM_000554.6(CRX):c.*683G>A SNV Uncertain significance 329718 rs867379668 GRCh37: 19:48343907-48343907
GRCh38: 19:47840650-47840650
47 CRX NM_000554.6(CRX):c.857T>C (p.Leu286Pro) SNV Uncertain significance 329699 rs886054547 GRCh37: 19:48343181-48343181
GRCh38: 19:47839924-47839924
48 CRX NM_000554.6(CRX):c.*436G>T SNV Uncertain significance 329711 rs759530877 GRCh37: 19:48343660-48343660
GRCh38: 19:47840403-47840403
49 CRX NM_000554.6(CRX):c.*392G>A SNV Uncertain significance 329707 rs886054550 GRCh37: 19:48343616-48343616
GRCh38: 19:47840359-47840359
50 CRX NM_000554.6(CRX):c.105C>A (p.Ala35=) SNV Uncertain significance 329696 rs886054545 GRCh37: 19:48339504-48339504
GRCh38: 19:47836247-47836247

UniProtKB/Swiss-Prot genetic disease variations for Leber Congenital Amaurosis 7:

72
# Symbol AA change Variation ID SNP ID
1 CRX p.Arg90Trp VAR_008714 rs104894673
2 CRX p.Lys88Asn VAR_063919

Expression for Leber Congenital Amaurosis 7

Search GEO for disease gene expression data for Leber Congenital Amaurosis 7.

Pathways for Leber Congenital Amaurosis 7

GO Terms for Leber Congenital Amaurosis 7

Cellular components related to Leber Congenital Amaurosis 7 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 cell projection GO:0042995 9.56 SPATA7 LCA5 GUCY2D CRB1
2 photoreceptor connecting cilium GO:0032391 9.16 SPATA7 LCA5
3 photoreceptor outer segment GO:0001750 9.13 SPATA7 GUCY2D CRB1
4 photoreceptor inner segment GO:0001917 8.8 RDH12 CRB1 AIPL1

Biological processes related to Leber Congenital Amaurosis 7 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 response to stimulus GO:0050896 9.55 SPATA7 RDH12 GUCY2D CRX AIPL1
2 regulation of rhodopsin mediated signaling pathway GO:0022400 9.26 GUCY2D AIPL1
3 photoreceptor cell maintenance GO:0045494 9.26 SPATA7 RDH12 LCA5 CRB1
4 visual perception GO:0007601 9.1 SPATA7 RDH12 GUCY2D CRX CRB1 AIPL1

Sources for Leber Congenital Amaurosis 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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