Spondyloepimetaphyseal Dysplasia, X-Linked disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

Sources

Aliases & Classifications for Spondyloepimetaphyseal Dysplasia, X-Linked

MalaCards integrated aliases for Spondyloepimetaphyseal Dysplasia, X-Linked:

Name: Spondyloepimetaphyseal Dysplasia, X-Linked ⁵⁷ ⁷³ ⁴³ ³⁸ ⁷¹

X-Linked Spondyloepimetaphyseal Dysplasia ¹¹ ⁵⁸ ²⁸ ⁵ ¹⁴

Semdx ⁵⁷ ¹¹ ¹⁹ ⁷³

Semd, X-Linked ⁵⁷ ⁷³

Semd X-Linked ¹¹ ¹⁹

Spondyloepimetaphyseal Dysplasia X-Linked ¹⁹

Spondylo-Epimetaphyseal Dysplasia ¹⁹

Characteristics:

Inheritance:

Spondyloepimetaphyseal Dysplasia, X-Linked: X-linked recessive ⁵⁷

X-Linked Spondyloepimetaphyseal Dysplasia: X-linked recessive ⁵⁸

OMIM®:

⁵⁷ (Updated 08-Dec-2022)

Miscellaneous:
pectus carinatum present in obligate carrier mothers
dwarfism not detectable at birth

Classifications:

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

See all MalaCards categories (disease lists)

ICD10: ³²

Congenital malformations, deformations and chromosomal abnormalities

Congenital malformations and deformations of the musculoskeletal system

Osteochondrodysplasia with defects of growth of tubular bones and spine

Spondyloepiphyseal dysplasia

Orphanet: ⁵⁸

Rare bone diseases

Developmental anomalies during embryogenesis

External Ids:

Disease Ontology ¹¹ DOID:0112150

OMIM® ⁵⁷ 300106

MeSH ⁴³ C564714 D010009

SNOMED-CT ⁶⁸ 770603000

ICD10 via Orphanet ³² Q77.7

UMLS via Orphanet ⁷² C1848097

Orphanet ⁵⁸ ORPHA93349

MedGen ⁴⁰ C1848097

SNOMED-CT via HPO ⁶⁹ 205101001 254062008 299035006 more

UMLS ⁷¹ C1848097

Sources

Summaries for Spondyloepimetaphyseal Dysplasia, X-Linked

GARD: ¹⁹ A rare, genetic primary bone dysplasia disorder characterized by disproportionate short stature with mesomelic short limbs, leg bowing, lumbar lordosis, brachydactyly, joint laxity and a waddling gait. Radiographs show platyspondyly with central protrusion of anterior vertebral bodies, kyphotic angulation and very short long bones with dysplastic epiphyses and flarred, irregular, cupped metaphyses.

MalaCards based summary: Spondyloepimetaphyseal Dysplasia, X-Linked, also known as x-linked spondyloepimetaphyseal dysplasia, is related to spondyloepimetaphyseal dysplasia and osteochondrodysplasia. An important gene associated with Spondyloepimetaphyseal Dysplasia, X-Linked is BGN (Biglycan), and among its related pathways/superpathways are Ciliary landscape and Intraflagellar transport. Affiliated tissues include bone and tongue, and related phenotypes are kyphosis and pectus carinatum

Orphanet: ⁵⁸ A rare, genetic primary bone dysplasia disorder characterized by disproportionate short stature with mesomelic short limbs, leg bowing, lumbar lordosis, brachydactyly, joint laxity and a waddling gait. Radiographs show platyspondyly with central protrusion of anterior vertebral bodies, kyphotic angulation and very short long bones with dysplastic epiphyses and flarred, irregular, cupped metaphyses.

UniProtKB/Swiss-Prot: ⁷³ An X-linked recessive bone disease characterized by severe short-trunk dwarfism, brachydactyly, metaphyseal flaring of lower extremities, short and broad long bone diaphyses, moderate platyspondyly, normal facies, and normal intelligence.

Disease Ontology: ¹¹ A spondyloepimetaphyseal dysplasia that has material basis in hemizygous mutation in BGN on chromosome Xq28.

More information from OMIM: 300106

Sources

Related Diseases for Spondyloepimetaphyseal Dysplasia, X-Linked

Diseases related to Spondyloepimetaphyseal Dysplasia, X-Linked via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 20)

#	Related Disease	Score	Top Affiliating Genes
1	spondyloepimetaphyseal dysplasia	30.3	EXOC6B BGN AIFM1
2	osteochondrodysplasia	29.8	LMBR1 EXTL3 BGN
3	spondyloepimetaphyseal dysplasia, x-linked, with hypomyelinating leukodystrophy	11.6
4	spondyloepimetaphyseal dysplasia with joint laxity, type 1, with or without fractures	10.5
5	spondyloepimetaphyseal dysplasia with joint laxity	10.5
6	contractures, pterygia, and spondylocarpotarsal fusion syndrome 1a	10.1
7	brachydactyly	10.1
8	turner syndrome	10.1
9	short-rib thoracic dysplasia 12	10.0	IFT57 IFT52
10	weyers acrofacial dysostosis	9.9	IFT57 IFT52
11	short-rib thoracic dysplasia 6 with or without polydactyly	9.9	IFT52 CSPP1
12	metacarpal 4-5 fusion	9.9	LMBR1 BHLHA9
13	cranioectodermal dysplasia	9.8	IFT57 IFT52
14	asphyxiating thoracic dystrophy	9.7	IFT57 IFT52 CSPP1
15	nephronophthisis	9.7	IFT57 IFT52 CSPP1
16	meckel syndrome, type 1	9.7	IFT57 IFT52 CSPP1
17	polydactyly	9.6	LMBR1 IFT52 BHLHA9
18	chromosomal duplication syndrome	9.6	LMBR1 BHLHA9
19	joubert syndrome 1	9.6	IFT57 IFT52 CSPP1
20	laurin-sandrow syndrome	9.2	LMBR1 IFT52 EXOC6B CSPP1 BHLHA9

Graphical network of the top 20 diseases related to Spondyloepimetaphyseal Dysplasia, X-Linked:

Sources

Symptoms & Phenotypes for Spondyloepimetaphyseal Dysplasia, X-Linked

Human phenotypes related to Spondyloepimetaphyseal Dysplasia, X-Linked:

³⁰ (show all 35)

#	Description	HPO Source Accession
1	kyphosis ³⁰	HP:0002808
2	pectus carinatum ³⁰	HP:0000768
3	disproportionate short-trunk short stature ³⁰	HP:0003521
4	brachydactyly ³⁰	HP:0001156
5	platyspondyly ³⁰	HP:0000926
6	coxa valga ³⁰	HP:0002673
7	hypoplasia of the maxilla ³⁰	HP:0000327
8	short metacarpal ³⁰	HP:0010049
9	short foot ³⁰	HP:0001773
10	narrow pelvis bone ³⁰	HP:0003275
11	lumbar hyperlordosis ³⁰	HP:0002938
12	short palm ³⁰	HP:0004279
13	short clavicles ³⁰	HP:0000894
14	cone-shaped epiphyses of the phalanges of the hand ³⁰	HP:0010230
15	short phalanx of finger ³⁰	HP:0009803
16	long fibula ³⁰	HP:0003085
17	cone-shaped metacarpal epiphyses ³⁰	HP:0006059
18	flat acetabular roof ³⁰	HP:0003180
19	limited elbow extension ³⁰	HP:0001377
20	metaphyseal irregularity ³⁰	HP:0003025
21	hypoplasia of the odontoid process ³⁰	HP:0003311
22	broad metacarpals ³⁰	HP:0001230
23	spondyloepimetaphyseal dysplasia ³⁰	HP:0002651
24	radial deviation of the hand ³⁰	HP:0009486
25	broad phalanx ³⁰	HP:0006009
26	delayed ossification of carpal bones ³⁰	HP:0001216
27	broad long bone diaphyses ³⁰	HP:0006371
28	flared iliac wing ³⁰	HP:0002869
29	anterior wedging of t12 ³⁰	HP:0011940
30	posterior rib cupping ³⁰	HP:0000922
31	long ulna ³⁰	HP:0003988
32	cone-shaped distal radial epiphysis ³⁰	HP:0004000
33	anterior wedging of t11 ³⁰	HP:0004573
34	prominent styloid process of ulna ³⁰	HP:0004981
35	cone-shaped epiphyses fused within their metaphyses ³⁰	HP:0005066

Symptoms via clinical synopsis from OMIM®:

⁵⁷ (Updated 08-Dec-2022)

Skeletal Spine:
kyphosis
platyspondyly
lumbar lordosis
mild odontoid hypoplasia
anterior vertebral tongue (infancy)
more

Skeletal Hands:
brachydactyly
short hands
delayed carpal bone age
radial deviation of hands
short, broad metacarpals and phalanges
more

Skeletal:
spondyloepimetaphyseal dysplasia

Neurologic Central Nervous System:
normal intelligence

Skeletal Limbs:
irregular metaphyses
disproportionately long fibulae
moderate limitation of elbow extension
short, broad long bone diaphyses
disproportionately long ulnae
more

Skeletal Skull:
mild maxillary hypoplasia

Chest Ribs Sternum Clavicles And Scapulae:
pectus carinatum
short clavicles
posterior rib cupping

Skeletal Pelvis:
coxa valga
flared iliac wings
horizontal acetabular roof
narrow pelvis
hypoplastic iliac bones
more

Skeletal Feet:
short feet

Head And Neck Face:
normal facies

Growth Height:
severe short-trunked dwarfism (identifiable in early childhood)

Clinical features from OMIM®:

300106 (Updated 08-Dec-2022)

Sources

Drugs & Therapeutics for Spondyloepimetaphyseal Dysplasia, X-Linked

Search Clinical Trials, NIH Clinical Center for Spondyloepimetaphyseal Dysplasia, X-Linked

Cochrane evidence based reviews: spondyloepimetaphyseal dysplasia, x-linked

Sources

Genetic Tests for Spondyloepimetaphyseal Dysplasia, X-Linked

Genetic tests related to Spondyloepimetaphyseal Dysplasia, X-Linked:

#	Genetic test	Affiliating Genes
1	X-Linked Spondyloepimetaphyseal Dysplasia ²⁸	BGN

Sources

Anatomical Context for Spondyloepimetaphyseal Dysplasia, X-Linked

Organs/tissues related to Spondyloepimetaphyseal Dysplasia, X-Linked:

MalaCards : Bone, Tongue

Sources

Publications for Spondyloepimetaphyseal Dysplasia, X-Linked

Articles related to Spondyloepimetaphyseal Dysplasia, X-Linked:

(show all 13)

#	Title	Authors	PMID	Year
1	BGN Mutations in X-Linked Spondyloepimetaphyseal Dysplasia. ⁶² ⁵⁷ ⁵	Cho SY...Jin DK	27236923	2016
2	New X linked spondyloepimetaphyseal dysplasia: report on eight affected males in the same family. ⁶² ⁵⁷ ⁵	Camera G...Camera A	8064814	1994
3	A novel homozygous missense variant in MATN3 causes spondylo-epimetaphyseal dysplasia Matrilin 3 type in a consanguineous family. ⁶²	Yasin S...Naz S	32470407	2020
4	Biallelic variants p.Arg1133Cys and p.Arg1379Cys in COL2A1: Further delineation of phenotypic spectrum of recessive Type 2 collagenopathies. ⁶²	Girisha KM...Mortier GR	31755234	2020
5	Functional knockout of the matrilin-3 gene causes premature chondrocyte maturation to hypertrophy and increases bone mineral density and osteoarthritis. ⁶²	van der Weyden L...Chen Q	16877353	2006
6	Identification of sequence polymorphisms in two sulfation-related genes, PAPSS2 and SLC26A2, and an association analysis with knee osteoarthritis. ⁶²	Ikeda T...Ikegawa S	11558903	2001
7	Spondylo-epimetaphyseal dysplasia: a new X-linked variant with mental retardation. ⁶²	Bieganski T...Kozlowski K	10486082	1999
8	Spondylo-epimetaphyseal dysplasia with joint laxity and severe kyphoscoliosis in an Italian girl. ⁶²	Ricci R...Kozlowski K	7567245	1995
9	Micromelic dwarfism--humerus, femur, tibia type. Report of a case. ⁶²	Baxova A...Netriova I	8255648	1993
10	Type II collagen defect in two sibs with the Goldblatt syndrome, a chondrodysplasia with dentinogenesis imperfecta, and joint laxity. ⁶²	Bonaventure J...Maroteaux P	1481841	1992
11	[Spondyloepimetaphyseal dysplasia. Case report]. ⁶²	Matejicek M	2091430	1990
12	Radiographic features of spondylo-epimetaphyseal dysplasia with joint laxity and progressive kyphoscoliosis. Review of 19 cases. ⁶²	Kozlowski K...Beighton P	6435203	1984
13	Spondylo-epimetaphyseal dysplasia with joint laxity and severe, progressive kyphoscoliosis. A potentially lethal dwarfing disorder. ⁶²	Beighton P...Grobler L	6635864	1983

Sources

Genes for Spondyloepimetaphyseal Dysplasia, X-Linked

Genes related to Spondyloepimetaphyseal Dysplasia, X-Linked (2 elite genes):

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubMed IDs
1	BGN	Biglycan	Protein Coding	1689.03	Molecular basis known ⁵⁷ Pathogenic ⁵ Causative germline mutation ⁵⁸ Causative variation ⁷³ Genetic Tests ²⁸ Likely pathogenic ⁵ DISEASES inferred ¹⁴ GeneCards inferred via : Disorders (show sections)	8064814 27236923
2	ABCD1	ATP Binding Cassette Subfamily D Member 1	Protein Coding	400	Pathogenic ⁵
3	AIFM1	Apoptosis Inducing Factor Mitochondria Associated 1	Protein Coding	7.95	GeneCards inferred via : Disorders (show sections)
4	EXOC6B	Exocyst Complex Component 6B	Protein Coding	6.65	DISEASES inferred ¹⁴
5	IFT52	Intraflagellar Transport 52	Protein Coding	6.2	DISEASES inferred ¹⁴
6	CSPP1	Centrosome And Spindle Pole Associated Protein 1	Protein Coding	6.04	DISEASES inferred ¹⁴
7	IFT57	Intraflagellar Transport 57	Protein Coding	5.92	DISEASES inferred ¹⁴
8	LMBR1	Limb Development Membrane Protein 1	Protein Coding	5.84	DISEASES inferred ¹⁴
9	EXTL3	Exostosin Like Glycosyltransferase 3	Protein Coding	5.74	DISEASES inferred ¹⁴
10	BHLHA9	Basic Helix-Loop-Helix Family Member A9	Protein Coding	5.24	DISEASES inferred ¹⁴

Sources

Variations for Spondyloepimetaphyseal Dysplasia, X-Linked

ClinVar genetic disease variations for Spondyloepimetaphyseal Dysplasia, X-Linked:

⁵ (show all 15)

#	Gene	Name	Type	Significance	ClinVarId	dbSNP ID	Position
1	BGN	NM_001711.6(BGN):c.776G>T (p.Gly259Val)	SNV	Pathogenic	243091	rs879255605	GRCh37: X:152772510-152772510 GRCh38: X:153507052-153507052
2	BGN	NM_001711.6(BGN):c.439A>G (p.Lys147Glu)	SNV	Pathogenic	243090	rs879255604	GRCh37: X:152771408-152771408 GRCh38: X:153505950-153505950
3	ABCD1	NM_000033.4(ABCD1):c.796G>A (p.Gly266Arg)	SNV	Pathogenic	11299	rs128624218	GRCh37: X:152991517-152991517 GRCh38: X:153726062-153726062
4	ABCD1	NM_000033.4(ABCD1):c.1552C>T (p.Arg518Trp)	SNV	Pathogenic	11307	rs128624224	GRCh37: X:153005609-153005609 GRCh38: X:153740155-153740155
5	BGN	NM_001711.6(BGN):c.441G>C (p.Lys147Asn)	SNV	Likely Pathogenic	1723874		GRCh37: X:152771410-152771410 GRCh38: X:153505952-153505952
6	BGN	NM_001711.6(BGN):c.955G>A (p.Asp319Asn)	SNV	Uncertain Significance	1675114		GRCh37: X:152773751-152773751 GRCh38: X:153508293-153508293
7	BGN	NM_001711.6(BGN):c.645C>G (p.Ile215Met)	SNV	Uncertain Significance	1029523	rs2089802360	GRCh37: X:152772066-152772066 GRCh38: X:153506608-153506608
8	BGN	NM_001711.6(BGN):c.17G>A (p.Arg6His)	SNV	Uncertain Significance	1033440	rs781931209	GRCh37: X:152770106-152770106 GRCh38: X:153504648-153504648
9	BGN	NM_001711.6(BGN):c.682C>T (p.Pro228Ser)	SNV	Uncertain Significance	1033441	rs2089804261	GRCh37: X:152772293-152772293 GRCh38: X:153506835-153506835
10	BGN	NM_001711.6(BGN):c.238+75A>G	SNV	Benign	1192382		GRCh37: X:152770402-152770402 GRCh38: X:153504944-153504944
11	BGN	NM_001711.6(BGN):c.771-32C>T	SNV	Benign	1192383		GRCh37: X:152772473-152772473 GRCh38: X:153507015-153507015
12	BGN	NM_001711.6(BGN):c.909+115T>C	SNV	Benign	1192384		GRCh37: X:152772758-152772758 GRCh38: X:153507300-153507300
13	BGN	NM_001711.6(BGN):c.257A>G (p.Lys86Arg)	SNV	Benign	1098726		GRCh37: X:152770714-152770714 GRCh38: X:153505256-153505256
14	BGN	NM_001711.6(BGN):c.141G>A (p.Ser47=)	SNV	Benign	1165870		GRCh37: X:152770230-152770230 GRCh38: X:153504772-153504772
15	BGN	NM_001711.6(BGN):c.540C>T (p.Ser180=)	SNV	Benign	1166521		GRCh37: X:152771509-152771509 GRCh38: X:153506051-153506051

UniProtKB/Swiss-Prot genetic disease variations for Spondyloepimetaphyseal Dysplasia, X-Linked:

⁷³

#	Symbol	AA change	Variation ID	SNP ID
1	BGN	p.Lys147Glu	VAR_076590	rs879255604
2	BGN	p.Gly259Val	VAR_076591	rs879255605

Sources

Expression for Spondyloepimetaphyseal Dysplasia, X-Linked

Search GEO for disease gene expression data for Spondyloepimetaphyseal Dysplasia, X-Linked.

Sources

Pathways for Spondyloepimetaphyseal Dysplasia, X-Linked

Pathways related to Spondyloepimetaphyseal Dysplasia, X-Linked according to GeneCards Suite gene sharing:

#	Super pathways	Score	Top Affiliating Genes
1	Ciliary landscape ⁷⁴	11.13	IFT57 IFT52 EXOC6B
2	Intraflagellar transport ⁶⁶	10.69	IFT57 IFT52

Sources

GO Terms for Spondyloepimetaphyseal Dysplasia, X-Linked

Cellular components related to Spondyloepimetaphyseal Dysplasia, X-Linked according to GeneCards Suite gene sharing:

#	Name	GO ID	Score	Top Affiliating Genes
1	ciliary tip	GO:0097542	9.62	IFT57 IFT52
2	ciliary base	GO:0097546	9.56	IFT57 IFT52
3	photoreceptor connecting cilium	GO:0032391	9.46	IFT57 IFT52
4	intraciliary transport particle B	GO:0030992	9.26	IFT57 IFT52
5	dendrite terminus	GO:0044292	8.92	IFT57 IFT52

Biological processes related to Spondyloepimetaphyseal Dysplasia, X-Linked according to GeneCards Suite gene sharing:

#	Name	GO ID	Score	Top Affiliating Genes
1	intraciliary transport	GO:0042073	9.56	IFT57 IFT52
2	keratinocyte proliferation	GO:0043616	9.46	IFT57 IFT52
3	negative regulation of keratinocyte proliferation	GO:0010839	9.26	IFT57 IFT52
4	intraciliary anterograde transport	GO:0035720	8.92	IFT57 IFT52

Sources

Sources for Spondyloepimetaphyseal Dysplasia, X-Linked

¹ BitterDB

² CDC

³ Cell Signaling Technology

⁴ ClinicalTrials

⁵ ClinVar

⁶ CNVD

⁷ Cochrane Library

⁸ Cosmic

⁹ dbSNP

¹⁰ DGIdb

¹¹ Disease Ontology

¹² diseasecard

¹³ DiseaseEnhancer

¹⁴ DISEASES

¹⁵ DrugBank

¹⁶ EFO

¹⁷ ExPASy

¹⁸ FMA

¹⁹ GARD

²⁰ GeneAnalytics

²¹ GeneCards

²² GeneGo (Thomson Reuters)

²³ GeneHancer via GeneCards

²⁴ GeneReviews

²⁵ GenomeRNAi

²⁶ GEO DataSets

²⁷ GO

²⁸ GTR

²⁹ HMDB

³⁰ HPO

³¹ ICD10

³² ICD10 via Orphanet

³³ ICD11

³⁴ ICD9CM

³⁵ IUPHAR

³⁶ LifeMap

³⁷ LncRNADisease

³⁸ LOVD

³⁹ MalaCards

⁴⁰ MedGen

⁴¹ MedlinePlus

⁴² MedlinePlus Genetics

⁴³ MeSH

⁴⁴ MESH via Orphanet

⁴⁵ MGI

⁴⁶ miR2Disease

⁴⁷ NCBI Bookshelf

⁴⁸ NCI

⁴⁹ NCIt

⁵⁰ NDF-RT

⁵¹ NIH Clinical Center

⁵² NINDS

⁵³ Novoseek

⁵⁴ Novus Biologicals

⁵⁵ ODiseA

⁵⁶ OMIM via Orphanet

⁵⁷ OMIM® (Updated 08-Dec-2022)

⁵⁸ Orphanet

⁵⁹ PathCards

⁶⁰ PharmGKB

⁶¹ PubChem

⁶² PubMed

⁶³ PubMed Health

⁶⁴ QIAGEN

⁶⁵ R&D Systems

⁶⁶ Reactome

⁶⁷ Sino Biological

⁶⁸ SNOMED-CT

⁶⁹ SNOMED-CT via HPO

⁷⁰ Tocris

⁷¹ UMLS

⁷² UMLS via Orphanet

⁷³ UniProtKB/Swiss-Prot

⁷⁴ WikiPathways

⁷⁵ Wikipedia

SEMDX MCID: SPN358 MIFTS: 39	Spondyloepimetaphyseal Dysplasia, X-Linked (SEMDX) Categories: Bone diseases, Fetal diseases, Genetic diseases, Rare diseases	Data Licensing For inquiries, contact: [email protected]
Genes Variations Tissues Related diseases Publications Symptoms & Phenotypes Expand all tables

Spondyloepimetaphyseal Dysplasia, X-Linked (SEMDX)

Aliases & Classifications for Spondyloepimetaphyseal Dysplasia, X-Linked

MalaCards integrated aliases for Spondyloepimetaphyseal Dysplasia, X-Linked:

Characteristics:

Inheritance:

OMIM®:

Classifications:

External Ids:

Summaries for Spondyloepimetaphyseal Dysplasia, X-Linked

Related Diseases for Spondyloepimetaphyseal Dysplasia, X-Linked

Diseases related to Spondyloepimetaphyseal Dysplasia, X-Linked via text searches within MalaCards or GeneCards Suite gene sharing:

Graphical network of the top 20 diseases related to Spondyloepimetaphyseal Dysplasia, X-Linked:

Symptoms & Phenotypes for Spondyloepimetaphyseal Dysplasia, X-Linked

Human phenotypes related to Spondyloepimetaphyseal Dysplasia, X-Linked:

Symptoms via clinical synopsis from OMIM®:

Clinical features from OMIM®:

Drugs & Therapeutics for Spondyloepimetaphyseal Dysplasia, X-Linked

Cochrane evidence based reviews: spondyloepimetaphyseal dysplasia, x-linked

Genetic Tests for Spondyloepimetaphyseal Dysplasia, X-Linked

Genetic tests related to Spondyloepimetaphyseal Dysplasia, X-Linked:

Anatomical Context for Spondyloepimetaphyseal Dysplasia, X-Linked

Organs/tissues related to Spondyloepimetaphyseal Dysplasia, X-Linked:

Publications for Spondyloepimetaphyseal Dysplasia, X-Linked

Articles related to Spondyloepimetaphyseal Dysplasia, X-Linked:

Genes for Spondyloepimetaphyseal Dysplasia, X-Linked

Genes related to Spondyloepimetaphyseal Dysplasia, X-Linked (2 elite genes):

Variations for Spondyloepimetaphyseal Dysplasia, X-Linked

ClinVar genetic disease variations for Spondyloepimetaphyseal Dysplasia, X-Linked:

UniProtKB/Swiss-Prot genetic disease variations for Spondyloepimetaphyseal Dysplasia, X-Linked:

Expression for Spondyloepimetaphyseal Dysplasia, X-Linked

Pathways for Spondyloepimetaphyseal Dysplasia, X-Linked

Pathways related to Spondyloepimetaphyseal Dysplasia, X-Linked according to GeneCards Suite gene sharing:

GO Terms for Spondyloepimetaphyseal Dysplasia, X-Linked

Cellular components related to Spondyloepimetaphyseal Dysplasia, X-Linked according to GeneCards Suite gene sharing:

Biological processes related to Spondyloepimetaphyseal Dysplasia, X-Linked according to GeneCards Suite gene sharing:

Sources for Spondyloepimetaphyseal Dysplasia, X-Linked