Epiphyseal Dysplasia, Multiple, 5 disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

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Aliases & Classifications for Epiphyseal Dysplasia, Multiple, 5

MalaCards integrated aliases for Epiphyseal Dysplasia, Multiple, 5:

Name: Epiphyseal Dysplasia, Multiple, 5 ⁵⁸ ¹³ ⁴⁵ ⁷⁴

Multiple Epiphyseal Dysplasia 5 ¹² ⁵⁴ ⁷⁶ ³⁰ ⁶ ¹⁵

Edm5 ⁵⁸ ¹² ⁵⁴ ⁶⁰ ⁷⁶

Bhmed ⁵⁸ ¹² ⁶⁰

Microepiphyseal Dysplasia, Bilateral Hereditary; Bhmed ⁵⁸

Microepiphyseal Dysplasia, Bilateral Hereditary ⁵⁸

Bilateral Hereditary Micro-Epiphyseal Dysplasia ⁶⁰

Bilateral Hereditary Microepiphyseal Dysplasia ¹²

Multiple Epiphyseal Dysplasia, Matn3-Related ⁵⁸

Multiple Epiphyseal Dysplasia, Matn3 Related ⁵⁴

Multiple Epiphyseal Dysplasia Matn3-Related ¹²

Dysplasia, Epiphyseal, Multiple, Type 5 ⁴¹

Multiple Epiphyseal Dysplasia Type 5 ⁶⁰

Epiphyseal Dysplasia Multiple 5 ⁵⁴

Polyepiphyseal Dysplasia Type 5 ⁶⁰

Med5 ⁶⁰

Characteristics:

Orphanet epidemiological data:

⁶⁰

multiple epiphyseal dysplasia type 5
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Childhood;

OMIM:

⁵⁸

Inheritance:
autosomal dominant

Miscellaneous:
genetic heterogeneity (see edm1 )
allelic to spondyloepimetaphyseal dysplasia, matn-3 related
allelic to hand osteoarthritis

HPO:

³³

epiphyseal dysplasia, multiple, 5:
Inheritance heterogeneous autosomal dominant inheritance

Classifications:

MalaCards categories:
Global: Genetic diseases Rare diseases Fetal diseases
Anatomical: Bone diseases

See all MalaCards categories (disease lists)

ICD10: ³⁵

Congenital malformations, deformations and chromosomal abnormalities

Congenital malformations and deformations of the musculoskeletal system

Osteochondrodysplasia with defects of growth of tubular bones and spine

Chondrodysplasia punctata

Orphanet: ⁶⁰

Rare bone diseases

Developmental anomalies during embryogenesis

External Ids:

Disease Ontology ¹² DOID:0070299

OMIM ⁵⁸ 607078

MeSH ⁴⁵ C535505 D010009

MESH via Orphanet ⁴⁶ C535505

ICD10 via Orphanet ³⁵ Q77.3

UMLS via Orphanet ⁷⁵ C1846843

Orphanet ⁶⁰ ORPHA93311

MedGen ⁴³ C1846843

SNOMED-CT via HPO ⁷⁰ 22325002 225655006 254080004 more

UMLS ⁷⁴ C1846843

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Summaries for Epiphyseal Dysplasia, Multiple, 5

UniProtKB/Swiss-Prot : ⁷⁶ Multiple epiphyseal dysplasia 5: 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 5 is relatively mild and clinically variable. It is primarily characterized by delayed and irregular ossification of the epiphyses and early-onset osteoarthritis.

MalaCards based summary : Epiphyseal Dysplasia, Multiple, 5, also known as multiple epiphyseal dysplasia 5, is related to multiple epiphyseal dysplasia and med23, and has symptoms including hip pain and knee pain. An important gene associated with Epiphyseal Dysplasia, Multiple, 5 is MATN3 (Matrilin 3), and among its related pathways/superpathways are PI3K-Akt signaling pathway and Focal Adhesion. Affiliated tissues include bone, and related phenotypes are osteoarthritis and epiphyseal dysplasia

Disease Ontology : ¹² A multiple epiphyseal dysplasia that has material basis in heterozygous mutation in the MATN3 gene on chromosome 2p24.

Description from OMIM: 607078

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Related Diseases for Epiphyseal Dysplasia, Multiple, 5

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, 5 via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 23)

#	Related Disease	Score	Top Affiliating Genes
1	multiple epiphyseal dysplasia	30.8	COL9A2 COL9A3 COMP MATN3 SLC26A2
2	med23	10.2
3	multiple epiphyseal dysplasia due to collagen 9 anomaly	10.1	COL9A2 COL9A3
4	autosomal recessive stickler syndrome	10.0	COL9A2 COL9A3
5	stickler syndrome	10.0	COL9A2 COL9A3
6	bone deterioration disease	10.0	COL9A2 COL9A3
7	spinal stenosis	10.0	COL9A2 COL9A3
8	achondrogenesis	9.9	COL9A2 SLC26A2
9	atelosteogenesis	9.9	COL9A2 SLC26A2
10	bone structure disease	9.9	COL9A2 COL9A3
11	skeletal dysplasias	9.9	COMP MATN3
12	metaphyseal chondrodysplasia, schmid type	9.9	COMP MATN3
13	intervertebral disc disease	9.8	COL9A2 COL9A3
14	diastrophic dysplasia	9.7	COMP SLC26A2
15	spondyloepiphyseal dysplasia congenita	9.7	COMP SLC26A2
16	epiphyseal dysplasia, multiple, 2	9.6	COL9A2 COL9A3 COMP
17	osteoarthritis	9.6	COMP MATN3
18	epiphyseal dysplasia, multiple, 4	9.5	COL9A2 COL9A3 MATN3 SLC26A2
19	epiphyseal dysplasia, multiple, 3	9.4	COL9A2 COL9A3 COMP MATN3
20	osteochondritis dissecans	9.4	COL9A2 COL9A3 COMP MATN3
21	bone development disease	9.3	COL9A2 COMP MATN3 SLC26A2
22	epiphyseal dysplasia, multiple, 1	9.0	COL9A2 COL9A3 COMP MATN3 SLC26A2
23	pseudoachondroplasia	9.0	COL9A2 COL9A3 COMP MATN3 SLC26A2

Graphical network of the top 20 diseases related to Epiphyseal Dysplasia, Multiple, 5:

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Symptoms & Phenotypes for Epiphyseal Dysplasia, Multiple, 5

Human phenotypes related to Epiphyseal Dysplasia, Multiple, 5:

⁶⁰ ³³ (show all 21)

#	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	gait disturbance ⁶⁰ ³³	frequent (33%)	Frequent (79-30%)	HP:0001288
4	hip dysplasia ⁶⁰ ³³	frequent (33%)	Frequent (79-30%)	HP:0001385
5	joint stiffness ⁶⁰ ³³	frequent (33%)	Frequent (79-30%)	HP:0001387
6	arthralgia ⁶⁰ ³³	frequent (33%)	Frequent (79-30%)	HP:0002829
7	genu valgum ⁶⁰ ³³	occasional (7.5%)	Occasional (29-5%)	HP:0002857
8	genu varum ⁶⁰ ³³	occasional (7.5%)	Occasional (29-5%)	HP:0002970
9	limitation of joint mobility ⁶⁰		Frequent (79-30%)
10	coxa vara ³³			HP:0002812
11	multiple epiphyseal dysplasia ³³			HP:0002654
12	small epiphyses ³³			HP:0010585
13	irregular epiphyses ³³			HP:0010582
14	broad femoral neck ³³			HP:0006429
15	short femoral neck ³³			HP:0100864
16	delayed ossification of carpal bones ³³			HP:0001216
17	arthralgia of the hip ³³			HP:0003365
18	metaphyseal irregularity ³³			HP:0003025
19	hypoplasia of the capital femoral epiphysis ³³			HP:0003090
20	premature osteoarthritis ³³			HP:0003088
21	delayed tarsal ossification ³³			HP:0008103

Symptoms via clinical synopsis from OMIM:

⁵⁸

Skeletal Pelvis:
coxa vara
broad, short femoral neck
small proximal femoral epiphyses
arthralgia (hip)
high greater trochanter

Growth Height:
normal stature

Skeletal Hands:
delayed carpal ossification
small, irregular epiphyses (first metacarpal)

Skeletal:
multiple epiphyseal dysplasia
early onset osteoarthritis

Skeletal Limbs:
genua valga
small, irregular epiphyses (distal femoral, proximal tibiae, distal radii, distal ulnae)
mild metaphyseal irregularities (distal femoral, proximal tibiae, proximal humeri, distal radii, distal ulnae)
arthralgias (knees)
submetaphyseal vertical striations

Skeletal Feet:
delayed tarsal ossification

Clinical features from OMIM:

607078

UMLS symptoms related to Epiphyseal Dysplasia, Multiple, 5:

hip pain, knee pain

MGI Mouse Phenotypes related to Epiphyseal Dysplasia, Multiple, 5:

⁴⁷

#	Description	MGI Source Accession	Score	Top Affiliating Genes
1	limbs/digits/tail	MP:0005371	8.92	COL9A2 COMP MATN3 SLC26A2

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Drugs & Therapeutics for Epiphyseal Dysplasia, Multiple, 5

Search Clinical Trials , NIH Clinical Center for Epiphyseal Dysplasia, Multiple, 5

Cochrane evidence based reviews: epiphyseal dysplasia, multiple, 5

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Genetic Tests for Epiphyseal Dysplasia, Multiple, 5

Genetic tests related to Epiphyseal Dysplasia, Multiple, 5:

#	Genetic test	Affiliating Genes
1	Multiple Epiphyseal Dysplasia 5 ³⁰	MATN3

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Anatomical Context for Epiphyseal Dysplasia, Multiple, 5

MalaCards organs/tissues related to Epiphyseal Dysplasia, Multiple, 5:

⁴²

Bone

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Publications for Epiphyseal Dysplasia, Multiple, 5

Articles related to Epiphyseal Dysplasia, Multiple, 5:

#	Title	Authors	Year
1	Mutation in the von Willebrand factor-A domain is not a prerequisite for the MATN3 mutation in multiple epiphyseal dysplasia. ( 15948199 )	Maeda K...Ikegawa S	2005
2	Missense mutations in the beta strands of the single A-domain of matrilin-3 result in multiple epiphyseal dysplasia. ( 14729835 )	Jackson GC...Briggs MD	2004
3	Familial multiple epiphyseal dysplasia due to a matrilin-3 mutation: further delineation of the phenotype including 40 years follow-up. ( 12884427 )	Mostert AK...Lindhout D	2003
4	Mutations in the region encoding the von Willebrand factor A domain of matrilin-3 are associated with multiple epiphyseal dysplasia. ( 11479597 )	Chapman KL...Briggs MD	2001
5	Bilateral hereditary micro-epiphysial dysplasia of the hips. ( 13849708 )	ELSBACH L	1959

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Genes for Epiphyseal Dysplasia, Multiple, 5

Genes related to Epiphyseal Dysplasia, Multiple, 5 (1 elite genes):

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubmedIds
1	MATN3	Matrilin 3	Protein Coding	1667.39	Molecular basis known ⁵⁸ Pathogenic ⁶ Causative germline mutation ⁶⁰ Causative variation ⁷⁶ Genetic Tests ³⁰ DISEASES inferred ¹⁵	11479597 20301302 14729835 (more) 12884427 13849708 15948199
2	COL9A3	Collagen Type IX Alpha 3 Chain	Protein Coding	16.48	DISEASES inferred ¹⁵
3	COL9A2	Collagen Type IX Alpha 2 Chain	Protein Coding	16.28	DISEASES inferred ¹⁵
4	SLC26A2	Solute Carrier Family 26 Member 2	Protein Coding	15.9	DISEASES inferred ¹⁵
5	COMP	Cartilage Oligomeric Matrix Protein	Protein Coding	15.09	DISEASES inferred ¹⁵
6	VWF	Von Willebrand Factor	Protein Coding	13.72	DISEASES inferred ¹⁵

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Variations for Epiphyseal Dysplasia, Multiple, 5

UniProtKB/Swiss-Prot genetic disease variations for Epiphyseal Dysplasia, Multiple, 5:

⁷⁶ (show all 15)

#	Symbol	AA change	Variation ID	SNP ID
1	MATN3	p.Arg121Trp	VAR_013691	rs104893637
2	MATN3	p.Val194Asp	VAR_013692	rs104893645
3	MATN3	p.Thr120Met	VAR_019882	rs397515546
4	MATN3	p.Ala128Pro	VAR_019883	rs104893641
5	MATN3	p.Glu134Lys	VAR_019884
6	MATN3	p.Ile192Asn	VAR_019885
7	MATN3	p.Ala219Asp	VAR_019886	rs28939677
8	MATN3	p.Phe105Ser	VAR_020844
9	MATN3	p.Arg70His	VAR_054807	rs104893640
10	MATN3	p.Thr195Lys	VAR_054808
11	MATN3	p.Tyr218Asn	VAR_054809
12	MATN3	p.Ala173Asp	VAR_066831	rs779413744
13	MATN3	p.Arg209Pro	VAR_066832	rs749845872
14	MATN3	p.Lys231Asn	VAR_066833	rs773642745
15	MATN3	p.Val245Met	VAR_066834	rs182164052

ClinVar genetic disease variations for Epiphyseal Dysplasia, Multiple, 5:

⁶ (show all 13)

#	Gene	Variation	Type	Significance	SNP ID	Assembly	Location
1	MATN3	NM_002381.4(MATN3): c.581T> A (p.Val194Asp)	single nucleotide variant	Pathogenic	rs104893645	GRCh37	Chromosome 2, 20205714: 20205714
2	MATN3	NM_002381.4(MATN3): c.581T> A (p.Val194Asp)	single nucleotide variant	Pathogenic	rs104893645	GRCh38	Chromosome 2, 20005953: 20005953
3	MATN3	NM_002381.4(MATN3): c.361C> T (p.Arg121Trp)	single nucleotide variant	Pathogenic	rs104893637	GRCh37	Chromosome 2, 20205934: 20205934
4	MATN3	NM_002381.4(MATN3): c.361C> T (p.Arg121Trp)	single nucleotide variant	Pathogenic	rs104893637	GRCh38	Chromosome 2, 20006173: 20006173
5	MATN3	NM_002381.4(MATN3): c.656C> A (p.Ala219Asp)	single nucleotide variant	Pathogenic	rs28939677	GRCh37	Chromosome 2, 20205639: 20205639
6	MATN3	NM_002381.4(MATN3): c.656C> A (p.Ala219Asp)	single nucleotide variant	Pathogenic	rs28939677	GRCh38	Chromosome 2, 20005878: 20005878
7	MATN3	NM_002381.4(MATN3): c.209G> A (p.Arg70His)	single nucleotide variant	Pathogenic	rs104893640	GRCh37	Chromosome 2, 20212184: 20212184
8	MATN3	NM_002381.4(MATN3): c.209G> A (p.Arg70His)	single nucleotide variant	Pathogenic	rs104893640	GRCh38	Chromosome 2, 20012423: 20012423
9	MATN3	NM_002381.4(MATN3): c.382G> C (p.Ala128Pro)	single nucleotide variant	Pathogenic	rs104893641	GRCh37	Chromosome 2, 20205913: 20205913
10	MATN3	NM_002381.4(MATN3): c.382G> C (p.Ala128Pro)	single nucleotide variant	Pathogenic	rs104893641	GRCh38	Chromosome 2, 20006152: 20006152
11	MATN3	NM_002381.4(MATN3): c.359C> T (p.Thr120Met)	single nucleotide variant	Pathogenic	rs397515546	GRCh37	Chromosome 2, 20205936: 20205936
12	MATN3	NM_002381.4(MATN3): c.359C> T (p.Thr120Met)	single nucleotide variant	Pathogenic	rs397515546	GRCh38	Chromosome 2, 20006175: 20006175
13	MATN3	NC_000002.11: g.20199299_20208224dup	duplication	Likely pathogenic		GRCh37	Chromosome 2, 20199299: 20208224

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Expression for Epiphyseal Dysplasia, Multiple, 5

Search GEO for disease gene expression data for Epiphyseal Dysplasia, Multiple, 5.

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Pathways for Epiphyseal Dysplasia, Multiple, 5

Pathways related to Epiphyseal Dysplasia, Multiple, 5 according to GeneCards Suite gene sharing:

#	Super pathways	Score	Top Affiliating Genes
1	PI3K-Akt signaling pathway ³⁸ Show member pathways Human papillomavirus infection ³⁸	12.46	COL9A2 COL9A3 COMP VWF
2	Focal Adhesion ¹ ³⁸ Show member pathways HGF Pathway ⁶⁵ Integrin-mediated Cell Adhesion ¹	12.32	COL9A2 COL9A3 COMP VWF
3	Degradation of the extracellular matrix ⁶⁷ Show member pathways Collagen degradation ⁶⁷ Extracellular matrix organization ⁶⁷	12.11	COL9A2 COL9A3 COMP MATN3
4	ECM-receptor interaction ³⁸ Show member pathways Integrin cell surface interactions ⁶⁷	11.44	COL9A2 COL9A3 COMP VWF
5	NCAM1 interactions ⁶⁷	10.94	COL9A2 COL9A3
6	ECM proteoglycans ⁶⁷	10.68	COL9A2 COL9A3 COMP MATN3

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GO Terms for Epiphyseal Dysplasia, Multiple, 5

Cellular components related to Epiphyseal Dysplasia, Multiple, 5 according to GeneCards Suite gene sharing:

#	Name	GO ID	Score	Top Affiliating Genes
1	extracellular space	GO:0005615	9.67	COL9A2 COL9A3 COMP MATN3
2	extracellular region	GO:0005576	9.65	COL9A2 COL9A3 COMP MATN3 VWF
3	endoplasmic reticulum lumen	GO:0005788	9.33	COL9A2 COL9A3 MATN3
4	collagen trimer	GO:0005581	9.32	COL9A2 COL9A3
5	collagen type IX trimer	GO:0005594	8.96	COL9A2 COL9A3
6	extracellular matrix	GO:0031012	8.92	COL9A2 COL9A3 COMP MATN3

Biological processes related to Epiphyseal Dysplasia, Multiple, 5 according to GeneCards Suite gene sharing:

#	Name	GO ID	Score	Top Affiliating Genes
1	skeletal system development	GO:0001501	9.13	COL9A2 COMP MATN3
2	extracellular matrix organization	GO:0030198	9.02	COL9A2 COL9A3 COMP MATN3 VWF

Molecular functions related to Epiphyseal Dysplasia, Multiple, 5 according to GeneCards Suite gene sharing:

#	Name	GO ID	Score	Top Affiliating Genes
1	protease binding	GO:0002020	9.26	COMP VWF
2	collagen binding	GO:0005518	9.16	COMP VWF
3	extracellular matrix structural constituent	GO:0005201	9.02	COL9A2 COL9A3 COMP MATN3 VWF
4	extracellular matrix structural constituent conferring tensile strength	GO:0030020	8.96	COL9A2 COL9A3

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Sources for Epiphyseal Dysplasia, Multiple, 5

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²⁴ GeneHancer via GeneCards

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²⁹ GO

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³³ HPO

³⁴ ICD10

³⁵ ICD10 via Orphanet

³⁶ ICD9CM

³⁷ IUPHAR

³⁸ KEGG

³⁹ LifeMap

⁴⁰ LncRNADisease

⁴¹ LOVD

⁴² MalaCards

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⁴⁵ MeSH

⁴⁶ MESH via Orphanet

⁴⁷ MGI

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⁴⁹ NCBI Bookshelf

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⁵³ NIH Clinical Center

⁵⁴ NIH Rare Diseases

⁵⁵ NINDS

⁵⁶ Novoseek

⁵⁷ Novus Biologicals

⁵⁸ OMIM

⁵⁹ OMIM via Orphanet

⁶⁰ Orphanet

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⁶⁶ R&D Systems

⁶⁷ Reactome

⁶⁸ Sino Biological

⁶⁹ SNOMED-CT

⁷⁰ SNOMED-CT via HPO

⁷¹ SNOMED-CT via Orphanet

⁷² TGDB

⁷³ Tocris

⁷⁴ UMLS

⁷⁵ UMLS via Orphanet

⁷⁶ UniProtKB/Swiss-Prot

⁷⁷ Wikipedia

Epiphyseal Dysplasia, Multiple, 5 (EDM5)

Aliases & Classifications for Epiphyseal Dysplasia, Multiple, 5

MalaCards integrated aliases for Epiphyseal Dysplasia, Multiple, 5:

Characteristics:

Orphanet epidemiological data:

OMIM:

HPO:

Classifications:

External Ids:

Summaries for Epiphyseal Dysplasia, Multiple, 5

Related Diseases for Epiphyseal Dysplasia, Multiple, 5

Diseases in the Multiple Epiphyseal Dysplasia family:

Diseases related to Epiphyseal Dysplasia, Multiple, 5 via text searches within MalaCards or GeneCards Suite gene sharing:

Graphical network of the top 20 diseases related to Epiphyseal Dysplasia, Multiple, 5:

Symptoms & Phenotypes for Epiphyseal Dysplasia, Multiple, 5

Human phenotypes related to Epiphyseal Dysplasia, Multiple, 5:

Symptoms via clinical synopsis from OMIM:

Clinical features from OMIM:

UMLS symptoms related to Epiphyseal Dysplasia, Multiple, 5:

MGI Mouse Phenotypes related to Epiphyseal Dysplasia, Multiple, 5:

Drugs & Therapeutics for Epiphyseal Dysplasia, Multiple, 5

Cochrane evidence based reviews: epiphyseal dysplasia, multiple, 5

Genetic Tests for Epiphyseal Dysplasia, Multiple, 5

Genetic tests related to Epiphyseal Dysplasia, Multiple, 5:

Anatomical Context for Epiphyseal Dysplasia, Multiple, 5

MalaCards organs/tissues related to Epiphyseal Dysplasia, Multiple, 5:

Publications for Epiphyseal Dysplasia, Multiple, 5

Articles related to Epiphyseal Dysplasia, Multiple, 5:

Genes for Epiphyseal Dysplasia, Multiple, 5

Genes related to Epiphyseal Dysplasia, Multiple, 5 (1 elite genes):

Variations for Epiphyseal Dysplasia, Multiple, 5

UniProtKB/Swiss-Prot genetic disease variations for Epiphyseal Dysplasia, Multiple, 5:

ClinVar genetic disease variations for Epiphyseal Dysplasia, Multiple, 5:

Expression for Epiphyseal Dysplasia, Multiple, 5

Pathways for Epiphyseal Dysplasia, Multiple, 5

Pathways related to Epiphyseal Dysplasia, Multiple, 5 according to GeneCards Suite gene sharing:

GO Terms for Epiphyseal Dysplasia, Multiple, 5

Cellular components related to Epiphyseal Dysplasia, Multiple, 5 according to GeneCards Suite gene sharing:

Biological processes related to Epiphyseal Dysplasia, Multiple, 5 according to GeneCards Suite gene sharing:

Molecular functions related to Epiphyseal Dysplasia, Multiple, 5 according to GeneCards Suite gene sharing:

Sources for Epiphyseal Dysplasia, Multiple, 5