EDM4
MCID: EPP014
MIFTS: 40

Epiphyseal Dysplasia, Multiple, 4 (EDM4)

Categories: Bone diseases, Fetal diseases, Genetic diseases, Rare diseases

Aliases & Classifications for Epiphyseal Dysplasia, Multiple, 4

MalaCards integrated aliases for Epiphyseal Dysplasia, Multiple, 4:

Name: Epiphyseal Dysplasia, Multiple, 4 57 13 44 73
Multiple Epiphyseal Dysplasia 4 12 53 75 29 6 15
Edm4 57 12 53 59 75
Multiple Epiphyseal Dysplasia with Clubfoot 57 12 53
Multiple Epiphyseal Dysplasia with Bilayered Patellae 57 53
Multiple Epiphyseal Dysplasia, Autosomal Recessive 57 53
Autosomal Recessive Multiple Epiphyseal Dysplasia 53 59
Polyepiphyseal Dysplasia Type 4 12 59
Med4 12 59
Rmed 12 59
Multiple Epiphyseal Dysplasia with Double-Layered Patella 53
Multiple Epiphyseal Dysplasia with Bilateral Patellae 12
Dysplasia, Epiphyseal, Multiple, Type 4 40
Multiple Epiphyseal Dysplasia Type 4 59
Epiphyseal Dysplasia Multiple 4 53

Characteristics:

Orphanet epidemiological data:

59
multiple epiphyseal dysplasia type 4
Inheritance: Autosomal recessive; Age of onset: Childhood;

OMIM:

57
Inheritance:
autosomal recessive

Miscellaneous:
genetic heterogeneity, see edm1 , edm2 , edm3 , and edm5
allelic to diastrophic dysplasia , atelosteogenesis, type ii , and achondrogenesis, type ib


HPO:

32
epiphyseal dysplasia, multiple, 4:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM 57 226900
Disease Ontology 12 DOID:0070300
Orphanet 59 ORPHA93307
UMLS via Orphanet 74 C1847593
MESH via Orphanet 45 C535504
ICD10 via Orphanet 34 Q77.3
MedGen 42 C1847593
UMLS 73 C1847593

Summaries for Epiphyseal Dysplasia, Multiple, 4

UniProtKB/Swiss-Prot : 75 Multiple epiphyseal dysplasia 4: A generalized skeletal dysplasia associated with significant morbidity. Joint pain, joint deformity, waddling gait, and short stature are the main clinical signs and symptoms. Radiological examination of the skeleton shows delayed, irregular mineralization of the epiphyseal ossification centers and of the centers of the carpal and tarsal bones. Multiple epiphyseal dysplasia is broadly categorized into the more severe Fairbank and the milder Ribbing types. The Fairbank type is characterized by shortness of stature, short and stubby fingers, small epiphyses in several joints, including the knee, ankle, hand, and hip. The Ribbing type is confined predominantly to the hip joints and is characterized by hands that are normal and stature that is normal or near-normal. Multiple epiphyseal dysplasia type 4 is a recessively inherited form, characterized by early childhood-onset hip dysplasia and recurrent patella dislocation. Short stature is not frequent.

MalaCards based summary : Epiphyseal Dysplasia, Multiple, 4, also known as multiple epiphyseal dysplasia 4, is related to multiple epiphyseal dysplasia and multiple epiphyseal dysplasia, recessive, and has symptoms including arthralgia An important gene associated with Epiphyseal Dysplasia, Multiple, 4 is SLC26A2 (Solute Carrier Family 26 Member 2), and among its related pathways/superpathways are Phospholipase-C Pathway and PI3K-Akt signaling pathway. Affiliated tissues include bone, and related phenotypes are osteoarthritis and scoliosis

Disease Ontology : 12 A multiple epiphyseal dysplasia that has material basis in homozygous mutation in the SLC26A2 gene on chromosome 5q32.

Description from OMIM: 226900

Related Diseases for Epiphyseal Dysplasia, Multiple, 4

Diseases in the Multiple Epiphyseal Dysplasia family:

Epiphyseal Dysplasia, Multiple, 1 Epiphyseal Dysplasia, Multiple, 4
Epiphyseal Dysplasia, Multiple, 2 Epiphyseal Dysplasia, Multiple, 3
Epiphyseal Dysplasia, Multiple, 5 Epiphyseal Dysplasia, Multiple, 6
Epiphyseal Dysplasia, Multiple, 7 Multiple Epiphyseal Dysplasia Due to Collagen 9 Anomaly
Multiple Epiphyseal Dysplasia, Autosomal Dominant Multiple Epiphyseal Dysplasia, Recessive

Diseases related to Epiphyseal Dysplasia, Multiple, 4 via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 20)
# Related Disease Score Top Affiliating Genes
1 multiple epiphyseal dysplasia 31.4 COL9A1 COL9A2 COL9A3 MATN3 SLC26A2
2 multiple epiphyseal dysplasia, recessive 11.3
3 retinoblastoma 10.1
4 atelosteogenesis 10.0 COL9A2 SLC26A2
5 bone deterioration disease 10.0 COL9A2 COL9A3
6 bone structure disease 9.9 COL9A2 COL9A3
7 intervertebral disc disease 9.9 COL9A2 COL9A3
8 multiple epiphyseal dysplasia due to collagen 9 anomaly 9.8 COL9A1 COL9A2 COL9A3
9 autosomal recessive stickler syndrome 9.8 COL9A1 COL9A2 COL9A3
10 stickler syndrome 9.8 COL9A1 COL9A2 COL9A3
11 epiphyseal dysplasia, multiple, 2 9.8 COL9A1 COL9A2 COL9A3
12 spinal stenosis 9.8 COL9A1 COL9A2 COL9A3
13 bone development disease 9.8 COL9A2 MATN3 SLC26A2
14 epiphyseal dysplasia, multiple, 3 9.8 COL9A2 COL9A3 MATN3
15 osteoarthritis 9.8 COL9A1 MATN3
16 achondrogenesis 9.7 COL9A2 FAM120A SLC26A2
17 epiphyseal dysplasia, multiple, 5 9.7 COL9A2 COL9A3 MATN3 SLC26A2
18 osteochondritis dissecans 9.6 COL9A1 COL9A2 COL9A3 MATN3
19 epiphyseal dysplasia, multiple, 1 9.5 COL9A1 COL9A2 COL9A3 MATN3 SLC26A2
20 pseudoachondroplasia 9.5 COL9A1 COL9A2 COL9A3 MATN3 SLC26A2

Graphical network of the top 20 diseases related to Epiphyseal Dysplasia, Multiple, 4:



Diseases related to Epiphyseal Dysplasia, Multiple, 4

Symptoms & Phenotypes for Epiphyseal Dysplasia, Multiple, 4

Symptoms via clinical synopsis from OMIM:

57
Skeletal Spine:
scoliosis

Skeletal Limbs:
arthralgia
limited elbow flexion
double layered patella
small humeral, distal radii, and ulnae epiphyses
mildly shortened ulna
more
Skeletal:
multiple epiphyseal dysplasia

Growth Height:
short stature (3rd-90th centile, infrequent finding)

Skeletal Pelvis:
hip dysplasia
small femoral heads
flattened proximal femoral epiphyses

Skeletal Hands:
brachydactyly
mild shortened metacarpals

Skeletal Feet:
clubfoot


Clinical features from OMIM:

226900

Human phenotypes related to Epiphyseal Dysplasia, Multiple, 4:

59 32 (show all 19)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 osteoarthritis 59 32 hallmark (90%) Very frequent (99-80%) HP:0002758
2 scoliosis 59 32 frequent (33%) Frequent (79-30%) HP:0002650
3 short stature 59 32 occasional (7.5%) Occasional (29-5%) HP:0004322
4 arthralgia 59 32 frequent (33%) Frequent (79-30%) HP:0002829
5 cleft palate 59 32 frequent (33%) Frequent (79-30%) HP:0000175
6 epiphyseal dysplasia 59 32 hallmark (90%) Very frequent (99-80%) HP:0002656
7 talipes equinovarus 59 32 frequent (33%) Frequent (79-30%) HP:0001762
8 clinodactyly of the 5th finger 59 32 frequent (33%) Frequent (79-30%) HP:0004209
9 small hand 59 32 frequent (33%) Frequent (79-30%) HP:0200055
10 abnormality of the patella 59 32 frequent (33%) Frequent (79-30%) HP:0003045
11 hip dysplasia 32 HP:0001385
12 brachydactyly 32 HP:0001156
13 short metacarpal 32 HP:0010049
14 abnormality of the knee 59 Frequent (79-30%)
15 limited elbow flexion 32 HP:0006376
16 multiple epiphyseal dysplasia 32 HP:0002654
17 flat capital femoral epiphysis 32 HP:0003370
18 hypoplasia of the femoral head 32 HP:0008802
19 double-layered patella 32 very rare (1%) HP:0031174

UMLS symptoms related to Epiphyseal Dysplasia, Multiple, 4:


arthralgia

MGI Mouse Phenotypes related to Epiphyseal Dysplasia, Multiple, 4:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 limbs/digits/tail MP:0005371 9.26 COL9A1 COL9A2 MATN3 SLC26A2
2 skeleton MP:0005390 8.92 COL9A1 COL9A2 MATN3 SLC26A2

Drugs & Therapeutics for Epiphyseal Dysplasia, Multiple, 4

Search Clinical Trials , NIH Clinical Center for Epiphyseal Dysplasia, Multiple, 4

Cochrane evidence based reviews: epiphyseal dysplasia, multiple, 4

Genetic Tests for Epiphyseal Dysplasia, Multiple, 4

Genetic tests related to Epiphyseal Dysplasia, Multiple, 4:

# Genetic test Affiliating Genes
1 Multiple Epiphyseal Dysplasia 4 29 SLC26A2

Anatomical Context for Epiphyseal Dysplasia, Multiple, 4

MalaCards organs/tissues related to Epiphyseal Dysplasia, Multiple, 4:

41
Bone

Publications for Epiphyseal Dysplasia, Multiple, 4

Articles related to Epiphyseal Dysplasia, Multiple, 4:

# Title Authors Year
1
Dual novel mutations in SLC26A2 in two siblings with multiple epiphyseal dysplasia 4 from a Chinese family: a case report. ( 29724173 )
2018

Variations for Epiphyseal Dysplasia, Multiple, 4

UniProtKB/Swiss-Prot genetic disease variations for Epiphyseal Dysplasia, Multiple, 4:

75
# Symbol AA change Variation ID SNP ID
1 SLC26A2 p.Arg279Trp VAR_007435 rs104893915
2 SLC26A2 p.Ala715Val VAR_007439 rs104893918
3 SLC26A2 p.Cys653Ser VAR_018655 rs104893924
4 SLC26A2 p.Phe256Ser VAR_066835 rs141961396

ClinVar genetic disease variations for Epiphyseal Dysplasia, Multiple, 4:

6 (show top 50) (show all 326)
# Gene Variation Type Significance SNP ID Assembly Location
1 SLC26A2 NM_000112.3(SLC26A2): c.391delC (p.Leu131Cysfs) deletion Likely pathogenic rs786200881 GRCh37 Chromosome 5, 149357606: 149357606
2 SLC26A2 NM_000112.3(SLC26A2): c.391delC (p.Leu131Cysfs) deletion Likely pathogenic rs786200881 GRCh38 Chromosome 5, 149978043: 149978043
3 SLC26A2 NM_000112.3(SLC26A2): c.835C> T (p.Arg279Trp) single nucleotide variant Pathogenic rs104893915 GRCh37 Chromosome 5, 149359991: 149359991
4 SLC26A2 NM_000112.3(SLC26A2): c.835C> T (p.Arg279Trp) single nucleotide variant Pathogenic rs104893915 GRCh38 Chromosome 5, 149980428: 149980428
5 SLC26A2 NM_000112.3(SLC26A2): c.764G> A (p.Gly255Glu) single nucleotide variant Uncertain significance rs104893917 GRCh37 Chromosome 5, 149359920: 149359920
6 SLC26A2 NM_000112.3(SLC26A2): c.764G> A (p.Gly255Glu) single nucleotide variant Uncertain significance rs104893917 GRCh38 Chromosome 5, 149980357: 149980357
7 SLC26A2 NM_000112.3(SLC26A2): c.2144C> T (p.Ala715Val) single nucleotide variant Uncertain significance rs104893918 GRCh37 Chromosome 5, 149361300: 149361300
8 SLC26A2 NM_000112.3(SLC26A2): c.2144C> T (p.Ala715Val) single nucleotide variant Uncertain significance rs104893918 GRCh38 Chromosome 5, 149981737: 149981737
9 SLC26A2 NM_000112.3(SLC26A2): c.532C> T (p.Arg178Ter) single nucleotide variant Pathogenic rs104893919 GRCh37 Chromosome 5, 149357747: 149357747
10 SLC26A2 NM_000112.3(SLC26A2): c.532C> T (p.Arg178Ter) single nucleotide variant Pathogenic rs104893919 GRCh38 Chromosome 5, 149978184: 149978184
11 SLC26A2 NM_000112.3(SLC26A2): c.2033G> T (p.Gly678Val) single nucleotide variant Likely pathogenic rs104893916 GRCh37 Chromosome 5, 149361189: 149361189
12 SLC26A2 NM_000112.3(SLC26A2): c.2033G> T (p.Gly678Val) single nucleotide variant Likely pathogenic rs104893916 GRCh38 Chromosome 5, 149981626: 149981626
13 SLC26A2 NM_000112.3(SLC26A2): c.-26+2T> C single nucleotide variant Pathogenic rs386833492 GRCh37 Chromosome 5, 149340544: 149340544
14 SLC26A2 NM_000112.3(SLC26A2): c.-26+2T> C single nucleotide variant Pathogenic rs386833492 GRCh38 Chromosome 5, 149960981: 149960981
15 SLC26A2 NM_000112.3(SLC26A2): c.1957T> A (p.Cys653Ser) single nucleotide variant Pathogenic/Likely pathogenic rs104893924 GRCh37 Chromosome 5, 149361113: 149361113
16 SLC26A2 NM_000112.3(SLC26A2): c.1957T> A (p.Cys653Ser) single nucleotide variant Pathogenic/Likely pathogenic rs104893924 GRCh38 Chromosome 5, 149981550: 149981550
17 SLC26A2 NM_000112.3(SLC26A2): c.1394delT (p.Leu465Cysfs) deletion Likely pathogenic rs386833495 GRCh37 Chromosome 5, 149360550: 149360550
18 SLC26A2 NM_000112.3(SLC26A2): c.1394delT (p.Leu465Cysfs) deletion Likely pathogenic rs386833495 GRCh38 Chromosome 5, 149980987: 149980987
19 SLC26A2 NM_000112.3(SLC26A2): c.1650delG (p.Ser551Valfs) deletion Conflicting interpretations of pathogenicity rs386833497 GRCh37 Chromosome 5, 149360806: 149360806
20 SLC26A2 NM_000112.3(SLC26A2): c.1650delG (p.Ser551Valfs) deletion Conflicting interpretations of pathogenicity rs386833497 GRCh38 Chromosome 5, 149981243: 149981243
21 SLC26A2 NM_000112.3(SLC26A2): c.1976delT (p.Leu659Terfs) deletion Likely pathogenic rs386833499 GRCh37 Chromosome 5, 149361132: 149361132
22 SLC26A2 NM_000112.3(SLC26A2): c.1976delT (p.Leu659Terfs) deletion Likely pathogenic rs386833499 GRCh38 Chromosome 5, 149981569: 149981569
23 SLC26A2 NM_000112.3(SLC26A2): c.700-1G> C single nucleotide variant Likely pathogenic rs200963884 GRCh37 Chromosome 5, 149359855: 149359855
24 SLC26A2 NM_000112.3(SLC26A2): c.700-1G> C single nucleotide variant Likely pathogenic rs200963884 GRCh38 Chromosome 5, 149980292: 149980292
25 SLC26A2 NM_000112.3(SLC26A2): c.1020_1022delTGT (p.Val341del) deletion Pathogenic/Likely pathogenic rs121908077 GRCh37 Chromosome 5, 149360176: 149360178
26 SLC26A2 NM_000112.3(SLC26A2): c.1020_1022delTGT (p.Val341del) deletion Pathogenic/Likely pathogenic rs121908077 GRCh38 Chromosome 5, 149980613: 149980615
27 SLC26A2 NM_000112.3(SLC26A2): c.1474C> T (p.Arg492Trp) single nucleotide variant Benign/Likely benign rs78676079 GRCh37 Chromosome 5, 149360630: 149360630
28 SLC26A2 NM_000112.3(SLC26A2): c.1474C> T (p.Arg492Trp) single nucleotide variant Benign/Likely benign rs78676079 GRCh38 Chromosome 5, 149981067: 149981067
29 SLC26A2 NM_000112.3(SLC26A2): c.2065A> T (p.Thr689Ser) single nucleotide variant Benign rs3776070 GRCh37 Chromosome 5, 149361221: 149361221
30 SLC26A2 NM_000112.3(SLC26A2): c.2065A> T (p.Thr689Ser) single nucleotide variant Benign rs3776070 GRCh38 Chromosome 5, 149981658: 149981658
31 SLC26A2 NM_000112.3(SLC26A2): c.451delT (p.Tyr151Ilefs) deletion Likely pathogenic rs786204675 GRCh37 Chromosome 5, 149357666: 149357666
32 SLC26A2 NM_000112.3(SLC26A2): c.451delT (p.Tyr151Ilefs) deletion Likely pathogenic rs786204675 GRCh38 Chromosome 5, 149978103: 149978103
33 SLC26A2 NM_000112.3(SLC26A2): c.1721T> C (p.Ile574Thr) single nucleotide variant Benign rs30832 GRCh37 Chromosome 5, 149360877: 149360877
34 SLC26A2 NM_000112.3(SLC26A2): c.1721T> C (p.Ile574Thr) single nucleotide variant Benign rs30832 GRCh38 Chromosome 5, 149981314: 149981314
35 SLC26A2 NM_000112.3(SLC26A2): c.987T> C (p.Leu329=) single nucleotide variant Conflicting interpretations of pathogenicity rs116302615 GRCh37 Chromosome 5, 149360143: 149360143
36 SLC26A2 NM_000112.3(SLC26A2): c.987T> C (p.Leu329=) single nucleotide variant Conflicting interpretations of pathogenicity rs116302615 GRCh38 Chromosome 5, 149980580: 149980580
37 SLC26A2 NM_000112.3(SLC26A2): c.2220A> G (p.Ter740=) single nucleotide variant Benign/Likely benign rs61732052 GRCh38 Chromosome 5, 149981813: 149981813
38 SLC26A2 NM_000112.3(SLC26A2): c.2220A> G (p.Ter740=) single nucleotide variant Benign/Likely benign rs61732052 GRCh37 Chromosome 5, 149361376: 149361376
39 SLC26A2 NM_000112.3(SLC26A2): c.1410A> G (p.Val470=) single nucleotide variant Benign/Likely benign rs115777661 GRCh37 Chromosome 5, 149360566: 149360566
40 SLC26A2 NM_000112.3(SLC26A2): c.1410A> G (p.Val470=) single nucleotide variant Benign/Likely benign rs115777661 GRCh38 Chromosome 5, 149981003: 149981003
41 SLC26A2 NM_000112.3(SLC26A2): c.229A> C (p.Asn77His) single nucleotide variant Benign rs76784312 GRCh37 Chromosome 5, 149357444: 149357444
42 SLC26A2 NM_000112.3(SLC26A2): c.229A> C (p.Asn77His) single nucleotide variant Benign rs76784312 GRCh38 Chromosome 5, 149977881: 149977881
43 SLC26A2 NM_000112.3(SLC26A2): c.1512G> A (p.Met504Ile) single nucleotide variant Uncertain significance rs76668544 GRCh37 Chromosome 5, 149360668: 149360668
44 SLC26A2 NM_000112.3(SLC26A2): c.1512G> A (p.Met504Ile) single nucleotide variant Uncertain significance rs76668544 GRCh38 Chromosome 5, 149981105: 149981105
45 SLC26A2 NM_000112.3(SLC26A2): c.1081G> A (p.Ala361Thr) single nucleotide variant Uncertain significance rs139051143 GRCh37 Chromosome 5, 149360237: 149360237
46 SLC26A2 NM_000112.3(SLC26A2): c.1081G> A (p.Ala361Thr) single nucleotide variant Uncertain significance rs139051143 GRCh38 Chromosome 5, 149980674: 149980674
47 SLC26A2 NM_000112.3(SLC26A2): c.-40G> A single nucleotide variant Uncertain significance rs532461120 GRCh38 Chromosome 5, 149960965: 149960965
48 SLC26A2 NM_000112.3(SLC26A2): c.-40G> A single nucleotide variant Uncertain significance rs532461120 GRCh37 Chromosome 5, 149340528: 149340528
49 SLC26A2 NM_000112.3(SLC26A2): c.1252A> G (p.Met418Val) single nucleotide variant Uncertain significance rs374309119 GRCh38 Chromosome 5, 149980845: 149980845
50 SLC26A2 NM_000112.3(SLC26A2): c.1252A> G (p.Met418Val) single nucleotide variant Uncertain significance rs374309119 GRCh37 Chromosome 5, 149360408: 149360408

Expression for Epiphyseal Dysplasia, Multiple, 4

Search GEO for disease gene expression data for Epiphyseal Dysplasia, Multiple, 4.

Pathways for Epiphyseal Dysplasia, Multiple, 4

Pathways related to Epiphyseal Dysplasia, Multiple, 4 according to GeneCards Suite gene sharing:

(show all 11)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.56 COL9A1 COL9A2 COL9A3
2
Show member pathways
12.49 COL9A1 COL9A2 COL9A3
3
Show member pathways
12.4 COL9A1 COL9A2 COL9A3
4
Show member pathways
12.27 COL9A1 COL9A2 COL9A3
5
Show member pathways
12.11 COL9A1 COL9A2 COL9A3 MATN3
6
Show member pathways
11.71 COL9A1 COL9A2 COL9A3
7
Show member pathways
11.61 COL9A1 COL9A2 COL9A3
8 10.84 COL9A1 COL9A3
9 10.7 COL9A1 COL9A2 COL9A3
10 10.68 COL9A1 COL9A2 COL9A3 MATN3
11 10.48 COL9A1 COL9A2 COL9A3

GO Terms for Epiphyseal Dysplasia, Multiple, 4

Cellular components related to Epiphyseal Dysplasia, Multiple, 4 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 extracellular space GO:0005615 9.62 COL9A1 COL9A2 COL9A3 MATN3
2 extracellular matrix GO:0031012 9.46 COL9A1 COL9A2 COL9A3 MATN3
3 collagen trimer GO:0005581 9.43 COL9A1 COL9A2 COL9A3
4 endoplasmic reticulum lumen GO:0005788 9.26 COL9A1 COL9A2 COL9A3 MATN3
5 collagen type IX trimer GO:0005594 8.8 COL9A1 COL9A2 COL9A3

Biological processes related to Epiphyseal Dysplasia, Multiple, 4 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 skeletal system development GO:0001501 8.96 COL9A2 MATN3
2 extracellular matrix organization GO:0030198 8.92 COL9A1 COL9A2 COL9A3 MATN3

Molecular functions related to Epiphyseal Dysplasia, Multiple, 4 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 extracellular matrix structural constituent conferring tensile strength GO:0030020 9.13 COL9A1 COL9A2 COL9A3
2 extracellular matrix structural constituent GO:0005201 8.92 COL9A1 COL9A2 COL9A3 MATN3

Sources for Epiphyseal Dysplasia, Multiple, 4

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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