EDM4
MCID: EPP014
MIFTS: 42

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 58 13 45 74
Multiple Epiphyseal Dysplasia 4 12 54 76 30 6 15
Edm4 58 12 54 60 76
Multiple Epiphyseal Dysplasia with Clubfoot 58 12 54
Multiple Epiphyseal Dysplasia with Bilayered Patellae 58 54
Multiple Epiphyseal Dysplasia, Autosomal Recessive 58 54
Autosomal Recessive Multiple Epiphyseal Dysplasia 54 60
Polyepiphyseal Dysplasia Type 4 12 60
Med4 12 60
Rmed 12 60
Multiple Epiphyseal Dysplasia with Double-Layered Patella 54
Multiple Epiphyseal Dysplasia with Bilateral Patellae 12
Dysplasia, Epiphyseal, Multiple, Type 4 41
Multiple Epiphyseal Dysplasia Type 4 60
Epiphyseal Dysplasia Multiple 4 54

Characteristics:

Orphanet epidemiological data:

60
multiple epiphyseal dysplasia type 4
Inheritance: Autosomal recessive; Age of onset: Childhood;

OMIM:

58
Inheritance:
autosomal recessive

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


HPO:

33
epiphyseal dysplasia, multiple, 4:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0070300
OMIM 58 226900
MESH via Orphanet 46 C535504
ICD10 via Orphanet 35 Q77.3
UMLS via Orphanet 75 C1847593
Orphanet 60 ORPHA93307
MedGen 43 C1847593
UMLS 74 C1847593

Summaries for Epiphyseal Dysplasia, Multiple, 4

UniProtKB/Swiss-Prot : 76 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 epiphyseal dysplasia

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 30.8 COL9A1 COL9A2 COL9A3 MATN3 SLC26A2
2 multiple epiphyseal dysplasia, recessive 11.4
3 retinoblastoma 10.2
4 achondrogenesis 10.0 COL9A2 SLC26A2
5 atelosteogenesis 10.0 COL9A2 SLC26A2
6 bone deterioration disease 9.9 COL9A2 COL9A3
7 bone structure disease 9.9 COL9A2 COL9A3
8 intervertebral disc disease 9.8 COL9A2 COL9A3
9 bone development disease 9.7 COL9A2 MATN3 SLC26A2
10 epiphyseal dysplasia, multiple, 3 9.7 COL9A2 COL9A3 MATN3
11 multiple epiphyseal dysplasia due to collagen 9 anomaly 9.6 COL9A1 COL9A2 COL9A3
12 autosomal recessive stickler syndrome 9.6 COL9A1 COL9A2 COL9A3
13 stickler syndrome 9.6 COL9A1 COL9A2 COL9A3
14 epiphyseal dysplasia, multiple, 2 9.5 COL9A1 COL9A2 COL9A3
15 spinal stenosis 9.5 COL9A1 COL9A2 COL9A3
16 epiphyseal dysplasia, multiple, 5 9.5 COL9A2 COL9A3 MATN3 SLC26A2
17 osteoarthritis 9.4 COL9A1 MATN3
18 osteochondritis dissecans 9.2 COL9A1 COL9A2 COL9A3 MATN3
19 epiphyseal dysplasia, multiple, 1 9.0 COL9A1 COL9A2 COL9A3 MATN3 SLC26A2
20 pseudoachondroplasia 9.0 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

Human phenotypes related to Epiphyseal Dysplasia, Multiple, 4:

60 33 (show all 19)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 osteoarthritis 60 33 hallmark (90%) Very frequent (99-80%) HP:0002758
2 epiphyseal dysplasia 60 33 hallmark (90%) Very frequent (99-80%) HP:0002656
3 scoliosis 60 33 frequent (33%) Frequent (79-30%) HP:0002650
4 arthralgia 60 33 frequent (33%) Frequent (79-30%) HP:0002829
5 cleft palate 60 33 frequent (33%) Frequent (79-30%) HP:0000175
6 talipes equinovarus 60 33 frequent (33%) Frequent (79-30%) HP:0001762
7 clinodactyly of the 5th finger 60 33 frequent (33%) Frequent (79-30%) HP:0004209
8 small hand 60 33 frequent (33%) Frequent (79-30%) HP:0200055
9 abnormality of the patella 60 33 frequent (33%) Frequent (79-30%) HP:0003045
10 short stature 60 33 occasional (7.5%) Occasional (29-5%) HP:0004322
11 double-layered patella 33 very rare (1%) HP:0031174
12 hip dysplasia 33 HP:0001385
13 brachydactyly 33 HP:0001156
14 short metacarpal 33 HP:0010049
15 abnormality of the knee 60 Frequent (79-30%)
16 limited elbow flexion 33 HP:0006376
17 multiple epiphyseal dysplasia 33 HP:0002654
18 flat capital femoral epiphysis 33 HP:0003370
19 hypoplasia of the femoral head 33 HP:0008802

Symptoms via clinical synopsis from OMIM:

58
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

UMLS symptoms related to Epiphyseal Dysplasia, Multiple, 4:


arthralgia

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

27
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Increased gamma-H2AX phosphorylation GR00053-A 8.92 COL9A1 COL9A2 COL9A3 GCKR

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

47
# 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 30 SLC26A2

Anatomical Context for Epiphyseal Dysplasia, Multiple, 4

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

42
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
2
Multiple SLC26A2 mutations occurring in a three-generational family. ( 29024831 )
2018
3
Diastrophic dysplasia and atelosteogenesis type II as expression of compound heterozygosis: first report of a Mexican patient and genotype-phenotype correlation. ( 15316973 )
2004
4
Autosomal recessive multiple epiphyseal dysplasia with homozygosity for C653S in the DTDST gene: double-layer patella as a reliable sign. ( 12966518 )
2003
5
A mutation in COL9A1 causes multiple epiphyseal dysplasia: further evidence for locus heterogeneity. ( 11565064 )
2001
6
Sulphate transporter gene mutations in apparently isolated club foot. ( 11303514 )
2001
7
Recessively inherited multiple epiphyseal dysplasia with normal stature, club foot, and double layered patella caused by a DTDST mutation. ( 10465113 )
1999
8
Atelosteogenesis type II is caused by mutations in the diastrophic dysplasia sulfate-transporter gene (DTDST): evidence for a phenotypic series involving three chondrodysplasias. ( 8571951 )
1996
9
Phenotypic and genotypic overlap between atelosteogenesis type 2 and diastrophic dysplasia. ( 8931695 )
1996

Variations for Epiphyseal Dysplasia, Multiple, 4

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

76
# 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 328)
# Gene Variation Type Significance SNP ID Assembly Location
1 SLC26A2 NM_000112.3(SLC26A2): c.*4064dupA duplication Uncertain significance rs886060247 GRCh37 Chromosome 5, 149365440: 149365440
2 SLC26A2 NM_000112.3(SLC26A2): c.*4064dupA duplication Uncertain significance rs886060247 GRCh38 Chromosome 5, 149985877: 149985877
3 SLC26A2 NM_000112.3(SLC26A2): c.1565C> T (p.Ser522Phe) single nucleotide variant Pathogenic GRCh38 Chromosome 5, 149981158: 149981158
4 SLC26A2 NM_000112.3(SLC26A2): c.1565C> T (p.Ser522Phe) single nucleotide variant Pathogenic GRCh37 Chromosome 5, 149360721: 149360721
5 SLC26A2 NM_000112.3(SLC26A2): c.1994A> C (p.His665Pro) single nucleotide variant Uncertain significance rs141798540 GRCh38 Chromosome 5, 149981587: 149981587
6 SLC26A2 NM_000112.3(SLC26A2): c.1994A> C (p.His665Pro) single nucleotide variant Uncertain significance rs141798540 GRCh37 Chromosome 5, 149361150: 149361150
7 SLC26A2 NM_000112.3(SLC26A2): c.1987G> A (p.Gly663Arg) single nucleotide variant Uncertain significance rs1554095397 GRCh38 Chromosome 5, 149981580: 149981580
8 SLC26A2 NM_000112.3(SLC26A2): c.1987G> A (p.Gly663Arg) single nucleotide variant Uncertain significance rs1554095397 GRCh37 Chromosome 5, 149361143: 149361143
9 SLC26A2 NM_000112.3(SLC26A2): c.1956_1957dup (p.Cys653Serfs) duplication Likely pathogenic rs1554095395 GRCh38 Chromosome 5, 149981549: 149981550
10 SLC26A2 NM_000112.3(SLC26A2): c.1956_1957dup (p.Cys653Serfs) duplication Likely pathogenic rs1554095395 GRCh37 Chromosome 5, 149361111: 149361111
11 SLC26A2 NM_000112.3(SLC26A2): c.1922A> G (p.His641Arg) single nucleotide variant Uncertain significance rs1253691463 GRCh38 Chromosome 5, 149981515: 149981515
12 SLC26A2 NM_000112.3(SLC26A2): c.1922A> G (p.His641Arg) single nucleotide variant Uncertain significance rs1253691463 GRCh37 Chromosome 5, 149361078: 149361078
13 SLC26A2 NM_000112.3(SLC26A2): c.925delC (p.Leu309Phefs) deletion Likely pathogenic rs1554095296 GRCh38 Chromosome 5, 149980518: 149980518
14 SLC26A2 NM_000112.3(SLC26A2): c.925delC (p.Leu309Phefs) deletion Likely pathogenic rs1554095296 GRCh37 Chromosome 5, 149360079: 149360080
15 SLC26A2 NM_000112.3(SLC26A2): c.870delG (p.Trp290Terfs) deletion Likely pathogenic rs1225601391 GRCh38 Chromosome 5, 149980463: 149980463
16 SLC26A2 NM_000112.3(SLC26A2): c.870delG (p.Trp290Terfs) deletion Likely pathogenic rs1225601391 GRCh37 Chromosome 5, 149360024: 149360025
17 SLC26A2 NM_000112.3(SLC26A2): c.700-2A> G single nucleotide variant Likely pathogenic rs1554095266 GRCh38 Chromosome 5, 149980291: 149980291
18 SLC26A2 NM_000112.3(SLC26A2): c.700-2A> G single nucleotide variant Likely pathogenic rs1554095266 GRCh37 Chromosome 5, 149359854: 149359854
19 SLC26A2 NM_000112.3(SLC26A2): c.642_643delAA (p.Ser215Leufs) deletion Likely pathogenic rs1554095167 GRCh38 Chromosome 5, 149978294: 149978295
20 SLC26A2 NM_000112.3(SLC26A2): c.642_643delAA (p.Ser215Leufs) deletion Likely pathogenic rs1554095167 GRCh37 Chromosome 5, 149357854: 149357856
21 SLC26A2 NM_000112.3(SLC26A2): c.253_258del6 (p.Ala85_Lys86del) deletion Uncertain significance rs1554095123 GRCh38 Chromosome 5, 149977905: 149977910
22 SLC26A2 NM_000112.3(SLC26A2): c.253_258del6 (p.Ala85_Lys86del) deletion Uncertain significance rs1554095123 GRCh37 Chromosome 5, 149357460: 149357466
23 SLC26A2 NM_000112.3(SLC26A2): c.2121_2123delTCT (p.Leu708del) deletion Uncertain significance rs1554095431 GRCh38 Chromosome 5, 149981714: 149981716
24 SLC26A2 NM_000112.3(SLC26A2): c.2121_2123delTCT (p.Leu708del) deletion Uncertain significance rs1554095431 GRCh37 Chromosome 5, 149361274: 149361277
25 SLC26A2 NM_000112.3(SLC26A2): c.1859delA (p.Lys620Argfs) deletion Likely pathogenic rs1554095381 GRCh38 Chromosome 5, 149981452: 149981452
26 SLC26A2 NM_000112.3(SLC26A2): c.1859delA (p.Lys620Argfs) deletion Likely pathogenic rs1554095381 GRCh37 Chromosome 5, 149361012: 149361013
27 SLC26A2 NM_000112.3(SLC26A2): c.1607_1610delGTTT (p.Cys536Phefs) deletion Likely pathogenic rs769657401 GRCh38 Chromosome 5, 149981200: 149981203
28 SLC26A2 NM_000112.3(SLC26A2): c.1607_1610delGTTT (p.Cys536Phefs) deletion Likely pathogenic rs769657401 GRCh37 Chromosome 5, 149360758: 149360762
29 SLC26A2 NM_000112.3(SLC26A2): c.776G> T (p.Gly259Val) single nucleotide variant Uncertain significance rs769319202 GRCh38 Chromosome 5, 149980369: 149980369
30 SLC26A2 NM_000112.3(SLC26A2): c.776G> T (p.Gly259Val) single nucleotide variant Uncertain significance rs769319202 GRCh37 Chromosome 5, 149359932: 149359932
31 SLC26A2 NM_000112.3(SLC26A2): c.578_581delCCTT (p.Ser193Terfs) deletion Likely pathogenic rs1554095154 GRCh38 Chromosome 5, 149978230: 149978233
32 SLC26A2 NM_000112.3(SLC26A2): c.578_581delCCTT (p.Ser193Terfs) deletion Likely pathogenic rs1554095154 GRCh37 Chromosome 5, 149357787: 149357791
33 SLC26A2 NM_000112.3(SLC26A2): c.326_331dup (p.Gly110_Asp111insValGly) duplication Uncertain significance rs1554095126 GRCh38 Chromosome 5, 149977978: 149977983
34 SLC26A2 NM_000112.3(SLC26A2): c.326_331dup (p.Gly110_Asp111insValGly) duplication Uncertain significance rs1554095126 GRCh37 Chromosome 5, 149357540: 149357540
35 SLC26A2 NM_000112.3(SLC26A2): c.325_326delTT (p.Leu109Argfs) deletion Likely pathogenic rs1554095125 GRCh38 Chromosome 5, 149977977: 149977978
36 SLC26A2 NM_000112.3(SLC26A2): c.325_326delTT (p.Leu109Argfs) deletion Likely pathogenic rs1554095125 GRCh37 Chromosome 5, 149357537: 149357539
37 SLC26A2 NM_000112.3(SLC26A2): c.63_64delCA (p.Asp21Glufs) deletion Likely pathogenic rs1554095097 GRCh38 Chromosome 5, 149977715: 149977716
38 SLC26A2 NM_000112.3(SLC26A2): c.63_64delCA (p.Asp21Glufs) deletion Likely pathogenic rs1554095097 GRCh37 Chromosome 5, 149357276: 149357278
39 SLC26A2 NM_000112.3(SLC26A2): c.2218T> A (p.Ter740Lys) single nucleotide variant Uncertain significance rs747357127 GRCh38 Chromosome 5, 149981811: 149981811
40 SLC26A2 NM_000112.3(SLC26A2): c.2218T> A (p.Ter740Lys) single nucleotide variant Uncertain significance rs747357127 GRCh37 Chromosome 5, 149361374: 149361374
41 SLC26A2 NM_000112.3(SLC26A2): c.1926delT (p.Leu644Trpfs) deletion Likely pathogenic rs1481910744 GRCh38 Chromosome 5, 149981519: 149981519
42 SLC26A2 NM_000112.3(SLC26A2): c.1926delT (p.Leu644Trpfs) deletion Likely pathogenic rs1481910744 GRCh37 Chromosome 5, 149361081: 149361082
43 SLC26A2 NM_000112.3(SLC26A2): c.1764C> A (p.Tyr588Ter) single nucleotide variant Likely pathogenic rs1554095364 GRCh38 Chromosome 5, 149981357: 149981357
44 SLC26A2 NM_000112.3(SLC26A2): c.1764C> A (p.Tyr588Ter) single nucleotide variant Likely pathogenic rs1554095364 GRCh37 Chromosome 5, 149360920: 149360920
45 SLC26A2 NM_000112.3(SLC26A2): c.1441delA (p.Ser481Valfs) deletion Likely pathogenic rs745774620 GRCh38 Chromosome 5, 149981034: 149981034
46 SLC26A2 NM_000112.3(SLC26A2): c.1441delA (p.Ser481Valfs) deletion Likely pathogenic rs745774620 GRCh37 Chromosome 5, 149360591: 149360592
47 SLC26A2 NM_000112.3(SLC26A2): c.611T> G (p.Leu204Ter) single nucleotide variant Likely pathogenic rs1554095156 GRCh38 Chromosome 5, 149978263: 149978263
48 SLC26A2 NM_000112.3(SLC26A2): c.611T> G (p.Leu204Ter) single nucleotide variant Likely pathogenic rs1554095156 GRCh37 Chromosome 5, 149357826: 149357826
49 SLC26A2 NM_000112.3(SLC26A2): c.387T> G (p.Tyr129Ter) single nucleotide variant Likely pathogenic rs1554095137 GRCh38 Chromosome 5, 149978039: 149978039
50 SLC26A2 NM_000112.3(SLC26A2): c.387T> G (p.Tyr129Ter) single nucleotide variant Likely pathogenic rs1554095137 GRCh37 Chromosome 5, 149357602: 149357602

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
11.62 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 COL9A3 COL9A2 COL9A1 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 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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