Epiphyseal Dysplasia, Multiple, 3 disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

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Aliases & Classifications for Epiphyseal Dysplasia, Multiple, 3

MalaCards integrated aliases for Epiphyseal Dysplasia, Multiple, 3:

Name: Epiphyseal Dysplasia, Multiple, 3 ⁵⁷ ²⁹ ¹³ ⁶ ⁷⁰

Multiple Epiphyseal Dysplasia 3 ¹² ²⁰ ⁷² ¹⁵

Edm3 ⁵⁷ ¹² ²⁰ ⁷²

Epiphyseal Dysplasia, Multiple, 3, with or Without Myopathy ⁵⁷ ²⁹

Multiple Epiphyseal Dysplasia 3 with or Without Myopathy ¹²

Dysplasia, Epiphyseal, Multiple, Type 3 ³⁹

Epiphyseal Dysplasia Multiple 3 ²⁰

Characteristics:

OMIM®:

⁵⁷ (Updated 05-Apr-2021)

Inheritance:
autosomal dominant

Miscellaneous:
genetic heterogeneity (see edm1 )
onset of symptoms in childhood with stiff, painful joints
joint replacement often necessary

HPO:

³¹

epiphyseal dysplasia, multiple, 3:
Inheritance autosomal dominant inheritance heterogeneous

Classifications:

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

See all MalaCards categories (disease lists)

External Ids:

Disease Ontology ¹² DOID:0070304

OMIM® ⁵⁷ 600969

OMIM Phenotypic Series ⁵⁷ PS132400

MeSH ⁴⁴ D010009

MedGen ⁴¹ C1832998 C3152083

SNOMED-CT via HPO ⁶⁸ 225655006 249939004 254080004 more

UMLS ⁷⁰ C1832998

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Summaries for Epiphyseal Dysplasia, Multiple, 3

UniProtKB/Swiss-Prot : ⁷² Multiple epiphyseal dysplasia 3: 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.

MalaCards based summary : Epiphyseal Dysplasia, Multiple, 3, also known as multiple epiphyseal dysplasia 3, is related to multiple epiphyseal dysplasia and epiphyseal dysplasia, multiple, 1. An important gene associated with Epiphyseal Dysplasia, Multiple, 3 is COL9A3 (Collagen Type IX Alpha 3 Chain), and among its related pathways/superpathways are Collagen chain trimerization and Degradation of the extracellular matrix. Related phenotypes are epiphyseal dysplasia and osteoarthritis

Disease Ontology : ¹² A multiple epiphyseal dysplasia due to collagen 9 anomaly that has material basis in heterozygous mutation in the COL9A3 gene on chromosome 20q13.

OMIM® : ⁵⁷ Multiple epiphyseal dysplasia is characterized by early-onset short stature, waddling gait, and stiffness and/or pain in the knees and sometimes other joints (Muragaki et al., 1996). For a general phenotypic description and a discussion of genetic heterogeneity of multiple epiphyseal dysplasia, see EDM1 (132400). (600969) (Updated 05-Apr-2021)

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Related Diseases for Epiphyseal Dysplasia, Multiple, 3

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

(show all 39)

#	Related Disease	Score	Top Affiliating Genes
1	multiple epiphyseal dysplasia	30.8	SLC26A2 PDZD11 MATN3 COL9A3 COL9A2 COL9A1
2	epiphyseal dysplasia, multiple, 1	28.9	SLC26A2 MATN3 COL9A3 COL9A2 COL9A1
3	epiphyseal dysplasia, multiple, 2	27.9	SLC26A2 SLBP PDZD11 MATN3 COL9A3 COL9A2
4	back pain	10.1	COL9A3 COL9A2
5	bone deterioration disease	10.0	COL9A3 COL9A2
6	otospondylomegaepiphyseal dysplasia, autosomal recessive	10.0	COL9A2 COL9A1
7	intervertebral disc disease	10.0	COL9A3 COL9A2
8	bone structure disease	10.0	COL9A3 COL9A2
9	fibrochondrogenesis	9.9	COL9A3 COL9A2 COL9A1
10	autosomal recessive stickler syndrome	9.9	COL9A3 COL9A2 COL9A1
11	vitreous syneresis	9.9	COL9A3 COL9A2 COL9A1
12	kniest dysplasia	9.9	COL9A3 COL9A2 COL9A1
13	marshall syndrome	9.9	COL9A3 COL9A2 COL9A1
14	spinal stenosis	9.9	COL9A3 COL9A2 COL9A1
15	campomelic dysplasia	9.9	COL9A2 COL9A1
16	retinal detachment	9.8	COL9A3 COL9A2 COL9A1
17	skeletal dysplasias	9.8	SLC26A2 MATN3
18	legg-calve-perthes disease	9.8	SLC26A2 MATN3
19	multiple epiphyseal dysplasia, autosomal dominant	9.7	MATN3 COL9A3 COL9A2 COL9A1
20	fibrochondrogenesis 1	9.6	MATN3 COL9A3 COL9A2 COL9A1
21	achondrogenesis, type ii	9.6	SLC26A2 MATN3 COL9A1
22	spondyloepiphyseal dysplasia congenita	9.6	MATN3 COL9A3 COL9A2 COL9A1
23	osteochondrosis	9.6	MATN3 COL9A3 COL9A2 COL9A1
24	osteochondritis dissecans	9.6	MATN3 COL9A3 COL9A2 COL9A1
25	stickler syndrome	9.6	MATN3 COL9A3 COL9A2 COL9A1
26	atelosteogenesis	9.6	SLC26A2 COL9A3 COL9A2 COL9A1
27	otosclerosis	9.6	SLC26A2 MATN3
28	spondyloepiphyseal dysplasia with congenital joint dislocations	9.6	SLC26A2 COL9A3 COL9A2 COL9A1
29	hypochondrogenesis	9.5	SLC26A2 MATN3 COL9A2 COL9A1
30	epiphyseal dysplasia, multiple, 6	9.3	SLC26A2 MATN3 COL9A3 COL9A2 COL9A1
31	epiphyseal dysplasia, multiple, 5	9.3	SLC26A2 MATN3 COL9A3 COL9A2 COL9A1
32	achondrogenesis, type ib	9.3	SLC26A2 MATN3 COL9A3 COL9A2 COL9A1
33	achondrogenesis	9.3	SLC26A2 MATN3 COL9A3 COL9A2 COL9A1
34	epiphyseal dysplasia, multiple, 4	9.3	SLC26A2 MATN3 COL9A3 COL9A2 COL9A1
35	diastrophic dysplasia	9.3	SLC26A2 MATN3 COL9A3 COL9A2 COL9A1
36	pseudoachondroplasia	9.3	SLC26A2 MATN3 COL9A3 COL9A2 COL9A1
37	bone development disease	9.3	SLC26A2 MATN3 COL9A3 COL9A2 COL9A1
38	odontochondrodysplasia	9.3	SLC26A2 MATN3 COL9A3 COL9A2 COL9A1
39	multiple epiphyseal dysplasia due to collagen 9 anomaly	8.4	SLC26A2 SLBP PDZD11 MATN3 EDEM2 COL9A3

Graphical network of the top 20 diseases related to Epiphyseal Dysplasia, Multiple, 3:

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Symptoms & Phenotypes for Epiphyseal Dysplasia, Multiple, 3

Human phenotypes related to Epiphyseal Dysplasia, Multiple, 3:

³¹ (show all 10)

#	Description	HPO Source Accession
1	epiphyseal dysplasia ³¹	HP:0002656
2	osteoarthritis ³¹	HP:0002758
3	short metacarpal ³¹	HP:0010049
4	mildly elevated creatine kinase ³¹	HP:0008180
5	proximal muscle weakness ³¹	HP:0003701
6	mild short stature ³¹	HP:0003502
7	irregular epiphyses ³¹	HP:0010582
8	delayed epiphyseal ossification ³¹	HP:0002663
9	small epiphyses ³¹	HP:0010585
10	abnormality of the hip joint ³¹	HP:0001384

Symptoms via clinical synopsis from OMIM®:

⁵⁷ (Updated 05-Apr-2021)

Skeletal Limbs:
osteoarthritis
late ossifying epiphyses
small, irregular epiphyses

Skeletal Hands:
short metacarpals
normal hands

Skeletal Pelvis:
hip arthrosis

Muscle Soft Tissue:
proximal muscle weakness
mild variability in muscle fiber size

Growth Height:
short stature, mild

Laboratory Abnormalities:
mildly elevated creatine phosphokinase (cpk)

Clinical features from OMIM®:

600969 (Updated 05-Apr-2021)

MGI Mouse Phenotypes related to Epiphyseal Dysplasia, Multiple, 3:

⁴⁶

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

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Drugs & Therapeutics for Epiphyseal Dysplasia, Multiple, 3

Search Clinical Trials , NIH Clinical Center for Epiphyseal Dysplasia, Multiple, 3

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Genetic Tests for Epiphyseal Dysplasia, Multiple, 3

Genetic tests related to Epiphyseal Dysplasia, Multiple, 3:

#	Genetic test	Affiliating Genes
1	Epiphyseal Dysplasia, Multiple, 3 ²⁹	COL9A3
2	Epiphyseal Dysplasia, Multiple, 3, with or Without Myopathy ²⁹

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Anatomical Context for Epiphyseal Dysplasia, Multiple, 3

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Publications for Epiphyseal Dysplasia, Multiple, 3

Articles related to Epiphyseal Dysplasia, Multiple, 3:

#	Title	Authors	PMID	Year
1	Novel COL9A3 mutation in a family with multiple epiphyseal dysplasia. ⁶ ⁵⁷	Nakashima E...Ikegawa S	15551337	2005
2	A mutation in the alpha 3 chain of type IX collagen causes autosomal dominant multiple epiphyseal dysplasia with mild myopathy. ⁶ ⁵⁷	Bonnemann CG...Kunkel LM	10655510	2000
3	COL9A3: A third locus for multiple epiphyseal dysplasia. ⁵⁷ ⁶	Paassilta P...Ala-Kokko L	10090888	1999
4	Splicing mutations in the COL3 domain of collagen IX cause multiple epiphyseal dysplasia. ⁶	Lohiniva J...Ala-Kokko L	10678658	2000
5	A mutation in the gene encoding the alpha 2 chain of the fibril-associated collagen IX, COL9A2, causes multiple epiphyseal dysplasia (EDM2). ⁵⁷	Muragaki Y...Hamel BC	8528240	1996
6	The Arabidopsis PHD-finger protein EDM2 has multiple roles in balancing NLR immune receptor gene expression. ⁶¹	Lai Y...Eulgem T	32925902	2020
7	The Arabidopsis RRM domain protein EDM3 mediates race-specific disease resistance by controlling H3K9me2-dependent alternative polyadenylation of RPP7 immune receptor transcripts. ⁶¹	Lai Y...Eulgem T	30407670	2019
8	Familial multiple epiphyseal dysplasia due to a matrilin-3 mutation: further delineation of the phenotype including 40 years follow-up. ⁶¹	Mostert AK...Lindhout D	12884427	2003
9	[Radiologische Besonderheiten einer bilateral vererblichen Mikro-Epiphysendysplasie - deutliche Entität einer Skelettdysplasie]. ⁶¹	Mostert AK...Lindhout D	12101480	2002
10	Multiple epiphyseal dysplasia: radiographic abnormalities correlated with genotype. ⁶¹	Unger SL...Cohn DH	11200990	2001

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Genes for Epiphyseal Dysplasia, Multiple, 3

Genes related to Epiphyseal Dysplasia, Multiple, 3 (1 elite genes):

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubMed IDs
1	COL9A3	Collagen Type IX Alpha 3 Chain	Protein Coding	1341.64	Molecular basis known ⁵⁷ Pathogenic ⁶ Causative variation ⁷² Genetic Tests ²⁹ Likely pathogenic ⁶ DISEASES inferred ¹⁵ GeneCards inferred via : Variants (show sections)	10090888
2	COL9A2	Collagen Type IX Alpha 2 Chain	Protein Coding	7.56	DISEASES inferred ¹⁵
3	PDZD11	PDZ Domain Containing 11	Protein Coding	7.55	DISEASES inferred ¹⁵
4	COL9A1	Collagen Type IX Alpha 1 Chain	Protein Coding	7.23	DISEASES inferred ¹⁵
5	MATN3	Matrilin 3	Protein Coding	7.15	DISEASES inferred ¹⁵
6	SLC26A2	Solute Carrier Family 26 Member 2	Protein Coding	6.71	DISEASES inferred ¹⁵
7	SLBP	Stem-Loop Binding Protein	Protein Coding	6.47	DISEASES inferred ¹⁵
8	EDEM2	ER Degradation Enhancing Alpha-Mannosidase Like Protein 2	Protein Coding	6.32	DISEASES inferred ¹⁵

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Variations for Epiphyseal Dysplasia, Multiple, 3

ClinVar genetic disease variations for Epiphyseal Dysplasia, Multiple, 3:

⁶ (show all 17)

#	Gene	Name	Type	Significance	ClinVarId	dbSNP ID	Position
1	COL9A3	NM_001853.4(COL9A3):c.148-2A>T	SNV	Pathogenic	17138	rs1600786629	GRCh37: 20:61449868-61449868 GRCh38: 20:62818516-62818516
2	COL9A3	NM_001853.4(COL9A3):c.183+5G>A	SNV	Pathogenic	17140	rs1600786748	GRCh37: 20:61449910-61449910 GRCh38: 20:62818558-62818558
3	COL9A3	NM_001853.4(COL9A3):c.369+2T>C	SNV	Pathogenic	374320	rs1057518693	GRCh37: 20:61452884-61452884 GRCh38: 20:62821532-62821532
4	COL9A3	NM_001853.4(COL9A3):c.148-1G>A	SNV	Pathogenic	17141	rs606231367	GRCh37: 20:61449869-61449869 GRCh38: 20:62818517-62818517
5	COL9A3	NM_001853.4(COL9A3):c.700C>T (p.Arg234Ter)	SNV	Likely pathogenic	632378	rs1027769042	GRCh37: 20:61457571-61457571 GRCh38: 20:62826219-62826219
6	COL9A3	NM_001853.4(COL9A3):c.184-2A>G	SNV	Likely pathogenic	931460		GRCh37: 20:61450572-61450572 GRCh38: 20:62819220-62819220
7	COL9A3	NM_001853.4(COL9A3):c.183+4A>C	SNV	Likely pathogenic	488486	rs1555821817	GRCh37: 20:61449909-61449909 GRCh38: 20:62818557-62818557
8	COL9A3	NM_001853.4(COL9A3):c.505G>A (p.Ala169Thr)	SNV	Uncertain significance	387925	rs948698664	GRCh37: 20:61453970-61453970 GRCh38: 20:62822618-62822618
9	COL9A3	NM_001853.4(COL9A3):c.920G>A (p.Gly307Asp)	SNV	Uncertain significance	522664	rs1422176468	GRCh37: 20:61460135-61460135 GRCh38: 20:62828783-62828783
10	COL9A3	NM_001853.4(COL9A3):c.1249C>G (p.Pro417Ala)	SNV	Uncertain significance	522670	rs1555824129	GRCh37: 20:61461902-61461902 GRCh38: 20:62830550-62830550
11	COL9A3	NM_001853.4(COL9A3):c.1987G>A (p.Asp663Asn)	SNV	Uncertain significance	587492	rs149805455	GRCh37: 20:61472016-61472016 GRCh38: 20:62840664-62840664
12	COL9A3	NM_001853.4(COL9A3):c.2034_2037dup (p.Gly680fs)	Duplication	Uncertain significance	632379	rs1190301717	GRCh37: 20:61472061-61472062 GRCh38: 20:62840709-62840710
13	COL9A3	NM_001853.4(COL9A3):c.1425_1442del (p.Lys477_Pro482del)	Deletion	Uncertain significance	689615	rs1600810127	GRCh37: 20:61467559-61467576 GRCh38: 20:62836207-62836224
14	COL9A3	NM_001853.4(COL9A3):c.753C>G (p.Phe251Leu)	SNV	Uncertain significance	983520		GRCh37: 20:61458133-61458133 GRCh38: 20:62826781-62826781
15	COL9A3	NM_001853.4(COL9A3):c.388G>A (p.Gly130Ser)	SNV	Uncertain significance	392918	rs139401633	GRCh37: 20:61453127-61453127 GRCh38: 20:62821775-62821775
16	COL9A3	NM_001853.4(COL9A3):c.50G>A (p.Gly17Glu)	SNV	Benign	193218	rs2294984	GRCh37: 20:61448466-61448466 GRCh38: 20:62817114-62817114
17	COL9A3	NM_001853.4(COL9A3):c.1304C>A (p.Ala435Glu)	SNV	Benign	195873	rs751557	GRCh37: 20:61463522-61463522 GRCh38: 20:62832170-62832170

UniProtKB/Swiss-Prot genetic disease variations for Epiphyseal Dysplasia, Multiple, 3:

⁷²

#	Symbol	AA change	Variation ID	SNP ID
1	COL9A3	p.Gly35Asp	VAR_072736	rs139073636

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Expression for Epiphyseal Dysplasia, Multiple, 3

Search GEO for disease gene expression data for Epiphyseal Dysplasia, Multiple, 3.

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Pathways for Epiphyseal Dysplasia, Multiple, 3

Pathways related to Epiphyseal Dysplasia, Multiple, 3 according to GeneCards Suite gene sharing:

#	Super pathways	Score	Top Affiliating Genes
1	Collagen chain trimerization ⁶⁵ Show member pathways Anchoring fibril formation ⁶⁵ Assembly of collagen fibrils and other multimeric structures ⁶⁵ Blood Coagulation Cascade ⁶³ Collagen biosynthesis and modifying enzymes ⁶⁵ Collagen formation ⁶⁵ Crosslinking of collagen fibrils ⁶⁵ Intrinsic Prothrombin Activation Pathway ⁶³ Protein digestion and absorption ³⁶	12.28	COL9A3 COL9A2 COL9A1
2	Degradation of the extracellular matrix ⁶⁵ Show member pathways Collagen degradation ⁶⁵ Extracellular matrix organization ⁶⁵	12.11	MATN3 COL9A3 COL9A2 COL9A1
3	ECM-receptor interaction ³⁶ Show member pathways Integrin cell surface interactions ⁶⁵	11.63	COL9A3 COL9A2 COL9A1
4	Gastric Cancer Network 2 ¹	10.84	COL9A3 COL9A1
5	NCAM1 interactions ⁶⁵	10.7	COL9A3 COL9A2 COL9A1
6	ECM proteoglycans ⁶⁵	10.68	MATN3 COL9A3 COL9A2 COL9A1

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GO Terms for Epiphyseal Dysplasia, Multiple, 3

Cellular components related to Epiphyseal Dysplasia, Multiple, 3 according to GeneCards Suite gene sharing:

#	Name	GO ID	Score	Top Affiliating Genes
1	extracellular region	GO:0005576	9.77	PDZD11 MATN3 COL9A3 COL9A2 COL9A1
2	collagen-containing extracellular matrix	GO:0062023	9.62	MATN3 COL9A3 COL9A2 COL9A1
3	extracellular matrix	GO:0031012	9.46	MATN3 COL9A3 COL9A2 COL9A1
4	collagen trimer	GO:0005581	9.43	COL9A3 COL9A2 COL9A1
5	basement membrane	GO:0005604	9.4	COL9A3 COL9A1
6	endoplasmic reticulum lumen	GO:0005788	9.35	MATN3 EDEM2 COL9A3 COL9A2 COL9A1
7	collagen type IX trimer	GO:0005594	8.8	COL9A3 COL9A2 COL9A1

Biological processes related to Epiphyseal Dysplasia, Multiple, 3 according to GeneCards Suite gene sharing:

#	Name	GO ID	Score	Top Affiliating Genes
1	extracellular matrix organization	GO:0030198	8.92	MATN3 COL9A3 COL9A2 COL9A1

Molecular functions related to Epiphyseal Dysplasia, Multiple, 3 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	COL9A3 COL9A2 COL9A1
2	extracellular matrix structural constituent	GO:0005201	8.92	MATN3 COL9A3 COL9A2 COL9A1

Sources

Sources for Epiphyseal Dysplasia, Multiple, 3

¹ BioSystems

² BitterDB

³ CDC

⁴ Cell Signaling Technology

⁵ ClinicalTrials

⁶ ClinVar

⁷ CNVD

⁸ Cochrane Library

⁹ Cosmic

¹⁰ dbSNP

¹¹ DGIdb

¹² Disease Ontology

¹³ diseasecard

¹⁴ DiseaseEnhancer

¹⁵ DISEASES

¹⁶ DrugBank

¹⁷ EFO

¹⁸ ExPASy

¹⁹ FMA

²⁰ GARD

²¹ GeneAnalytics

²² GeneCards

²³ GeneGo (Thomson Reuters)

²⁴ GeneHancer via GeneCards

²⁵ GeneReviews

²⁶ GenomeRNAi

²⁷ GEO DataSets

²⁸ GO

²⁹ GTR

³⁰ HMDB

³¹ HPO

³² ICD10

³³ ICD10 via Orphanet

³⁴ ICD9CM

³⁵ IUPHAR

³⁶ KEGG

³⁷ LifeMap

³⁸ LncRNADisease

³⁹ LOVD

⁴⁰ MalaCards

⁴¹ MedGen

⁴² MedlinePlus

⁴³ MedlinePlus Genetics

⁴⁴ MeSH

⁴⁵ MESH via Orphanet

⁴⁶ MGI

⁴⁷ miR2Disease

⁴⁸ NCBI Bookshelf

⁴⁹ NCI

⁵⁰ NCIt

⁵¹ NDF-RT

⁵² NIH Clinical Center

⁵³ NINDS

⁵⁴ Novoseek

⁵⁵ Novus Biologicals

⁵⁶ OMIM via Orphanet

⁵⁷ OMIM® (Updated 05-Apr-2021)

⁵⁸ Orphanet

⁵⁹ PathCards

⁶⁰ PharmGKB

⁶¹ PubMed

⁶² PubMed Health

⁶³ QIAGEN

⁶⁴ R&D Systems

⁶⁵ Reactome

⁶⁶ Sino Biological

⁶⁷ SNOMED-CT

⁶⁸ SNOMED-CT via HPO

⁶⁹ Tocris

⁷⁰ UMLS

⁷¹ UMLS via Orphanet

⁷² UniProtKB/Swiss-Prot

⁷³ Wikipedia

Epiphyseal Dysplasia, Multiple, 3 (EDM3)

Aliases & Classifications for Epiphyseal Dysplasia, Multiple, 3

MalaCards integrated aliases for Epiphyseal Dysplasia, Multiple, 3:

Characteristics:

OMIM®:

HPO:

Classifications:

External Ids:

Summaries for Epiphyseal Dysplasia, Multiple, 3

Related Diseases for Epiphyseal Dysplasia, Multiple, 3

Diseases in the Multiple Epiphyseal Dysplasia family:

Diseases related to Epiphyseal Dysplasia, Multiple, 3 via text searches within MalaCards or GeneCards Suite gene sharing:

Graphical network of the top 20 diseases related to Epiphyseal Dysplasia, Multiple, 3:

Symptoms & Phenotypes for Epiphyseal Dysplasia, Multiple, 3

Human phenotypes related to Epiphyseal Dysplasia, Multiple, 3:

Symptoms via clinical synopsis from OMIM®:

Clinical features from OMIM®:

MGI Mouse Phenotypes related to Epiphyseal Dysplasia, Multiple, 3:

Drugs & Therapeutics for Epiphyseal Dysplasia, Multiple, 3

Genetic Tests for Epiphyseal Dysplasia, Multiple, 3

Genetic tests related to Epiphyseal Dysplasia, Multiple, 3:

Anatomical Context for Epiphyseal Dysplasia, Multiple, 3

Publications for Epiphyseal Dysplasia, Multiple, 3

Articles related to Epiphyseal Dysplasia, Multiple, 3:

Genes for Epiphyseal Dysplasia, Multiple, 3

Genes related to Epiphyseal Dysplasia, Multiple, 3 (1 elite genes):

Variations for Epiphyseal Dysplasia, Multiple, 3

ClinVar genetic disease variations for Epiphyseal Dysplasia, Multiple, 3:

UniProtKB/Swiss-Prot genetic disease variations for Epiphyseal Dysplasia, Multiple, 3:

Expression for Epiphyseal Dysplasia, Multiple, 3

Pathways for Epiphyseal Dysplasia, Multiple, 3

Pathways related to Epiphyseal Dysplasia, Multiple, 3 according to GeneCards Suite gene sharing:

GO Terms for Epiphyseal Dysplasia, Multiple, 3

Cellular components related to Epiphyseal Dysplasia, Multiple, 3 according to GeneCards Suite gene sharing:

Biological processes related to Epiphyseal Dysplasia, Multiple, 3 according to GeneCards Suite gene sharing:

Molecular functions related to Epiphyseal Dysplasia, Multiple, 3 according to GeneCards Suite gene sharing:

Sources for Epiphyseal Dysplasia, Multiple, 3