Spondyloepimetaphyseal Dysplasia, Aggrecan Type disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

Sources

Aliases & Classifications for Spondyloepimetaphyseal Dysplasia, Aggrecan Type

MalaCards integrated aliases for Spondyloepimetaphyseal Dysplasia, Aggrecan Type:

IMPROVED

Name: Spondyloepimetaphyseal Dysplasia, Aggrecan Type ⁵⁷ ¹⁹ ⁵⁸ ⁷³ ²⁸ ¹² ⁵

Semd, Aggrecan Type ⁵⁷ ¹⁹ ⁵⁸

Semdag ⁵⁷ ⁷³

Dysplasia, Spondyloepimetaphyseal, Aggrecan Type ³⁸

Semd Aggrecan Type ⁷³

Characteristics:

Inheritance:

Autosomal recessive ⁵⁸ ⁵⁷

Prevelance:

<1/1000000 (Worldwide) ⁵⁸

Age Of Onset:

Infancy,Neonatal ⁵⁸

OMIM®:

⁵⁷ (Updated 24-Oct-2022)

Miscellaneous:
one family from zacatecas, mexico has been described (last curated august 2017)

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:

OMIM® ⁵⁷ 612813

MeSH ⁴³ D001848

ICD10 via Orphanet ³² Q77.7

UMLS via Orphanet ⁷² C2748544

Orphanet ⁵⁸ ORPHA171866

MedGen ⁴⁰ C2748544

SNOMED-CT via HPO ⁶⁹ 109504005 17790008 22810007 more

Sources

Summaries for Spondyloepimetaphyseal Dysplasia, Aggrecan Type

UniProtKB/Swiss-Prot: ⁷³ A bone disease characterized by severe short stature, macrocephaly, severe midface hypoplasia, short neck, barrel chest and brachydactyly. The radiological findings comprise long bones with generalized irregular epiphyses with widened metaphyses, especially at the knees, platyspondyly, and multiple cervical-vertebral clefts.

MalaCards based summary: Spondyloepimetaphyseal Dysplasia, Aggrecan Type, also known as semd, aggrecan type, is related to spondyloepimetaphyseal dysplasia and osteochondrodysplasia. An important gene associated with Spondyloepimetaphyseal Dysplasia, Aggrecan Type is ACAN (Aggrecan). Affiliated tissues include bone, and related phenotypes are short neck and mandibular prognathia

GARD: ¹⁹ Spondyloepimetaphyseal dysplasia, aggrecan type is a new form of skeletal dysplasia characterized by severe short stature, facial dysmorphism and characteristic radiographic findings.

Orphanet: ⁵⁸ Spondyloepimetaphyseal dysplasia, aggrecan type is a new form of skeletal dysplasia characterized by severe short stature, facial dysmorphism and characteristic radiographic findings.

More information from OMIM: 612813

Sources

Related Diseases for Spondyloepimetaphyseal Dysplasia, Aggrecan Type

Diseases related to Spondyloepimetaphyseal Dysplasia, Aggrecan Type via text searches within MalaCards or GeneCards Suite gene sharing:

#	Related Disease	Score	Top Affiliating Genes
1	spondyloepimetaphyseal dysplasia	10.2
2	osteochondrodysplasia	10.2

Sources

Symptoms & Phenotypes for Spondyloepimetaphyseal Dysplasia, Aggrecan Type

Human phenotypes related to Spondyloepimetaphyseal Dysplasia, Aggrecan Type:

⁵⁸ ³⁰ (show all 25)

#	Description	HPO Frequency	Orphanet Frequency	HPO Source Accession
1	short neck ⁵⁸ ³⁰	Very rare (1%)	Very frequent (99-80%)	HP:0000470
2	mandibular prognathia ⁵⁸ ³⁰	Very rare (1%)	Very frequent (99-80%)	HP:0000303
3	broad thumb ⁵⁸ ³⁰	Very rare (1%)	Very frequent (99-80%)	HP:0011304
4	abnormality of the nail ⁵⁸ ³⁰	Hallmark (90%)	Very frequent (99-80%)	HP:0001597
5	joint laxity ⁵⁸ ³⁰	Very rare (1%)	Very frequent (99-80%)	HP:0001388
6	brachydactyly ⁵⁸ ³⁰	Hallmark (90%)	Very frequent (99-80%)	HP:0001156
7	low-set, posteriorly rotated ears ⁵⁸ ³⁰	Hallmark (90%)	Very frequent (99-80%)	HP:0000368
8	midface retrusion ⁵⁸ ³⁰	Hallmark (90%)	Very frequent (99-80%)	HP:0011800
9	lumbar hyperlordosis ⁵⁸ ³⁰	Very rare (1%)	Very frequent (99-80%)	HP:0002938
10	relative macrocephaly ⁵⁸ ³⁰	Very rare (1%)	Very frequent (99-80%)	HP:0004482
11	rhizomelia ⁵⁸ ³⁰	Very rare (1%)	Very frequent (99-80%)	HP:0008905
12	mesomelia ⁵⁸ ³⁰	Very rare (1%)	Very frequent (99-80%)	HP:0003027
13	absent nasal bridge ⁵⁸ ³⁰	Very rare (1%)	Very frequent (99-80%)	HP:0005285
14	barrel-shaped chest ⁵⁸ ³⁰	Very rare (1%)	Very frequent (99-80%)	HP:0001552
15	hoarse voice ⁵⁸ ³⁰	Very rare (1%)	Frequent (79-30%)	HP:0001609
16	abnormal respiratory system physiology ³⁰	Frequent (33%)		HP:0002795
17	malar flattening ³⁰	Very rare (1%)		HP:0000272
18	short finger ³⁰	Very rare (1%)		HP:0009381
19	platyspondyly ³⁰			HP:0000926
20	posteriorly rotated ears ⁵⁸		Very frequent (99-80%)
21	irregular epiphyses ³⁰			HP:0010582
22	metaphyseal widening ³⁰			HP:0003016
23	spondyloepimetaphyseal dysplasia ³⁰			HP:0002651
24	functional respiratory abnormality ⁵⁸		Frequent (79-30%)
25	bronchospasm ³⁰			HP:0025428

Symptoms via clinical synopsis from OMIM®:

⁵⁷ (Updated 24-Oct-2022)

Head And Neck Neck:
short neck

Skeletal Spine:
platyspondyly
lumbar lordosis, mild
multiple cervical-vertebral clefts

Skeletal Limbs:
rhizomelia
mesomelia
irregular epiphyses
widened metaphyses

Chest External Features:
barrel-shaped chest

Head And Neck Head:
macrocephaly, relative

Growth Height:
short stature, disproportionate (adult height 26-28 inches)

Respiratory Airways:
bronchospasm (in 1 patient)

Skin Nails Hair Nails:
horizontal nail beds

Skeletal Hands:
brachydactyly
accessory carpal ossification centers
short, broad thumbs
telescoping interphalangeal joints

Voice:
hoarse voice

Head And Neck Nose:
absent nasal bridge

Head And Neck Face:
midface hypoplasia
prognathism, relative

Head And Neck Ears:
low-set posteriorly rotated ears

Growth Other:
upper/lower segment ratio 1.1-1.2

Skeletal:
spondyloepimetaphyseal dysplasia (semd)
joint laxity (especially hands)

Clinical features from OMIM®:

612813 (Updated 24-Oct-2022)

Sources

Drugs & Therapeutics for Spondyloepimetaphyseal Dysplasia, Aggrecan Type

Search Clinical Trials, NIH Clinical Center for Spondyloepimetaphyseal Dysplasia, Aggrecan Type

Sources

Genetic Tests for Spondyloepimetaphyseal Dysplasia, Aggrecan Type

Genetic tests related to Spondyloepimetaphyseal Dysplasia, Aggrecan Type:

#	Genetic test	Affiliating Genes
1	Spondyloepimetaphyseal Dysplasia, Aggrecan Type ²⁸	ACAN

Sources

Anatomical Context for Spondyloepimetaphyseal Dysplasia, Aggrecan Type

Organs/tissues related to Spondyloepimetaphyseal Dysplasia, Aggrecan Type:

MalaCards : Bone

Sources

Publications for Spondyloepimetaphyseal Dysplasia, Aggrecan Type

Articles related to Spondyloepimetaphyseal Dysplasia, Aggrecan Type:

#	Title	Authors	PMID	Year
1	The second report on spondyloepimetaphyseal dysplasia, aggrecan type: a milder phenotype than originally reported. ⁶² ⁵⁷ ⁵	Fukuhara Y...Nishimura G	30124491	2019
2	A recessive skeletal dysplasia, SEMD aggrecan type, results from a missense mutation affecting the C-type lectin domain of aggrecan. ⁶² ⁵⁷ ⁵	Tompson SW...Krakow D	19110214	2009
3	Heterozygous aggrecan variants are associated with short stature and brachydactyly: Description of 16 probands and a review of the literature. ⁶²	Sentchordi-Montane L...Heath KE	29464738	2018

Sources

Genes for Spondyloepimetaphyseal Dysplasia, Aggrecan Type

Genes related to Spondyloepimetaphyseal Dysplasia, Aggrecan Type (1 elite genes):

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubMed IDs
1	ACAN	Aggrecan	Protein Coding	1658.36	Molecular basis known ⁵⁷ Pathogenic ⁵ Causative germline mutation ⁵⁸ Causative variation ⁷³ Genetic Tests ²⁸ GeneCards inferred via : Disorders (show sections)	19110214 30124491

Sources

Variations for Spondyloepimetaphyseal Dysplasia, Aggrecan Type

ClinVar genetic disease variations for Spondyloepimetaphyseal Dysplasia, Aggrecan Type:

IMPROVED

⁵ (show top 50) (show all 64)

#	Gene	Name	Type	Significance	ClinVarId	dbSNP ID	Position
1	ACAN	NM_001369268.1(ACAN):c.7255G>A (p.Asp2419Asn)	SNV	Pathogenic	14305	rs121913568	GRCh37: 15:89415269-89415269 GRCh38: 15:88872038-88872038
2	ACAN	NM_001369268.1(ACAN):c.4138G>T (p.Val1380Phe)	SNV	Pathogenic	618999	rs1567185220	GRCh37: 15:89399954-89399954 GRCh38: 15:88856723-88856723
3	ACAN	NM_001369268.1(ACAN):c.5061T>A (p.Ser1687Arg)	SNV	Pathogenic	619000	rs1567186585	GRCh37: 15:89400877-89400877 GRCh38: 15:88857646-88857646
4	ACAN	NM_001369268.1(ACAN):c.5546G>A (p.Gly1849Asp)	SNV	Uncertain Significance	800829	rs34124958	GRCh37: 15:89401362-89401362 GRCh38: 15:88858131-88858131
5	ACAN	NM_001369268.1(ACAN):c.37del (p.Val13fs)	DEL	Uncertain Significance	828193	rs1596128744	GRCh37: 15:89379472-89379472 GRCh38: 15:88836241-88836241
6	ACAN	NM_001369268.1(ACAN):c.6697C>T (p.His2233Tyr)	SNV	Uncertain Significance	828194	rs1596148604	GRCh37: 15:89402513-89402513 GRCh38: 15:88859282-88859282
7	ACAN	NM_001369268.1(ACAN):c.5434G>A (p.Val1812Ile)	SNV	Uncertain Significance	1034408	rs1897100294	GRCh37: 15:89401250-89401250 GRCh38: 15:88858019-88858019
8	ACAN	NM_001369268.1(ACAN):c.2539C>G (p.Pro847Ala)	SNV	Uncertain Significance	1679571		GRCh37: 15:89398355-89398355 GRCh38: 15:88855124-88855124
9	ACAN	NM_001369268.1(ACAN):c.6113C>T (p.Thr2038Ile)	SNV	Uncertain Significance	287741	rs149083251	GRCh37: 15:89401929-89401929 GRCh38: 15:88858698-88858698
10	ACAN	NM_001369268.1(ACAN):c.1575C>G (p.Asp525Glu)	SNV	Uncertain Significance	1027792	rs367724066	GRCh37: 15:89390619-89390619 GRCh38: 15:88847388-88847388
11	ACAN	NM_001369268.1(ACAN):c.7233C>G (p.Asp2411Glu)	SNV	Benign	1098867		GRCh37: 15:89415247-89415247 GRCh38: 15:88872016-88872016
12	ACAN	NM_001369268.1(ACAN):c.824G>A (p.Arg275Gln)	SNV	Benign	803116	rs34949187	GRCh37: 15:89386652-89386652 GRCh38: 15:88843421-88843421
13	ACAN	NM_001369268.1(ACAN):c.1623C>A (p.Pro541=)	SNV	Benign	1188849		GRCh37: 15:89391160-89391160 GRCh38: 15:88847929-88847929
14	ACAN	NM_001369268.1(ACAN):c.7631-7G>A	SNV	Benign	1188850		GRCh37: 15:89417629-89417629 GRCh38: 15:88874398-88874398
15	ACAN	NM_001369268.1(ACAN):c.1809T>C (p.Ala603=)	SNV	Benign	284980	rs1568116	GRCh37: 15:89392745-89392745 GRCh38: 15:88849514-88849514
16	ACAN	NM_001369268.1(ACAN):c.7613A>G (p.Gln2538Arg)	SNV	Benign	1174934		GRCh37: 15:89417238-89417238 GRCh38: 15:88874007-88874007
17	ACAN	NM_001369268.1(ACAN):c.7524C>T (p.Ser2508=)	SNV	Benign	283854	rs190361551	GRCh37: 15:89417149-89417149 GRCh38: 15:88873918-88873918
18	ACAN	NM_001369268.1(ACAN):c.2037G>A (p.Ala679=)	SNV	Benign	283926	rs372553119	GRCh37: 15:89395035-89395035 GRCh38: 15:88851804-88851804
19	ACAN	NM_001369268.1(ACAN):c.1530G>A (p.Pro510=)	SNV	Benign	284338	rs34637731	GRCh37: 15:89390574-89390574 GRCh38: 15:88847343-88847343
20	ACAN	NM_001369268.1(ACAN):c.1866C>T (p.Cys622=)	SNV	Benign	284340	rs35652696	GRCh37: 15:89392802-89392802 GRCh38: 15:88849571-88849571
21	ACAN	NM_001369268.1(ACAN):c.1850G>A (p.Arg617His)	SNV	Benign	284346	rs34616796	GRCh37: 15:89392786-89392786 GRCh38: 15:88849555-88849555
22	ACAN	NM_001369268.1(ACAN):c.1515G>A (p.Ala505=)	SNV	Benign	284347	rs34957282	GRCh37: 15:89390559-89390559 GRCh38: 15:88847328-88847328
23	ACAN	NM_001369268.1(ACAN):c.186C>T (p.Thr62=)	SNV	Benign	287638	rs191648646	GRCh37: 15:89382009-89382009 GRCh38: 15:88838778-88838778
24	ACAN	NM_001369268.1(ACAN):c.1366T>C (p.Phe456Leu)	SNV	Benign	623875	rs181736584	GRCh37: 15:89389050-89389050 GRCh38: 15:88845819-88845819
25	ACAN	NM_001369268.1(ACAN):c.6009T>C (p.Tyr2003=)	SNV	Benign	768723	rs35676128	GRCh37: 15:89401825-89401825 GRCh38: 15:88858594-88858594
26	ACAN	NM_001369268.1(ACAN):c.438G>A (p.Leu146=)	SNV	Benign	774946	rs35600223	GRCh37: 15:89382261-89382261 GRCh38: 15:88839030-88839030
27	ACAN	NM_001369268.1(ACAN):c.1398C>T (p.Thr466=)	SNV	Benign	779449	rs185960535	GRCh37: 15:89389082-89389082 GRCh38: 15:88845851-88845851
28	ACAN	NM_001369268.1(ACAN):c.1719A>G (p.Val573=)	SNV	Benign	786631	rs57669733	GRCh37: 15:89391256-89391256 GRCh38: 15:88848025-88848025
29	ACAN	NM_001369268.1(ACAN):c.2247G>A (p.Val749=)	SNV	Benign	788898	rs137972043	GRCh37: 15:89395245-89395245 GRCh38: 15:88852014-88852014
30	ACAN	NM_001369268.1(ACAN):c.204A>C (p.Pro68=)	SNV	Benign	790874	rs372041880	GRCh37: 15:89382027-89382027 GRCh38: 15:88838796-88838796
31	ACAN	NM_001369268.1(ACAN):c.1469C>T (p.Ser490Leu)	SNV	Benign	1205871		GRCh37: 15:89390513-89390513 GRCh38: 15:88847282-88847282
32	ACAN	NM_001369268.1(ACAN):c.1210A>G (p.Ile404Val)	SNV	Benign	1206050		GRCh37: 15:89388894-89388894 GRCh38: 15:88845663-88845663
33	ACAN	NM_001369268.1(ACAN):c.1753C>A (p.Arg585Ser)	SNV	Benign	1206136		GRCh37: 15:89392689-89392689 GRCh38: 15:88849458-88849458
34	ACAN	NM_001369268.1(ACAN):c.1051+9C>T	SNV	Benign	1206168		GRCh37: 15:89386888-89386888 GRCh38: 15:88843657-88843657
35	ACAN	NM_001369268.1(ACAN):c.1882G>A (p.Ala628Thr)	SNV	Benign	1206324		GRCh37: 15:89392818-89392818 GRCh38: 15:88849587-88849587
36	ACAN	NM_001369268.1(ACAN):c.1221C>T (p.Val407=)	SNV	Benign	1206376		GRCh37: 15:89388905-89388905 GRCh38: 15:88845674-88845674
37	ACAN	NM_001369268.1(ACAN):c.306C>A (p.Asp102Glu)	SNV	Benign	1206411		GRCh37: 15:89382129-89382129 GRCh38: 15:88838898-88838898
38	ACAN	NM_001369268.1(ACAN):c.1051+10G>A	SNV	Benign	1214370		GRCh37: 15:89386889-89386889 GRCh38: 15:88843658-88843658
39	ACAN	NM_001369268.1(ACAN):c.1476C>G (p.Thr492=)	SNV	Benign	1293770		GRCh37: 15:89390520-89390520 GRCh38: 15:88847289-88847289
40	ACAN	NM_001369268.1(ACAN):c.2789G>T (p.Ser930Ile)	SNV	Benign	1188886		GRCh37: 15:89398605-89398605 GRCh38: 15:88855374-88855374
41	ACAN	NM_001369268.1(ACAN):c.2815T>A (p.Ser939Thr)	SNV	Benign	1174760		GRCh37: 15:89398631-89398631 GRCh38: 15:88855400-88855400
42	ACAN	NM_001369268.1(ACAN):c.4207A>G (p.Thr1403Ala)	SNV	Benign	1174779		GRCh37: 15:89400023-89400023 GRCh38: 15:88856792-88856792
43	ACAN	NM_001369268.1(ACAN):c.6235A>G (p.Ile2079Val)	SNV	Benign	1188935		GRCh37: 15:89402051-89402051 GRCh38: 15:88858820-88858820
44	ACAN	NM_001369268.1(ACAN):c.3351C>T (p.Thr1117=)	SNV	Benign	291234	rs530742363	GRCh37: 15:89399167-89399167 GRCh38: 15:88855936-88855936
45	ACAN	NM_001369268.1(ACAN):c.2591C>T (p.Pro864Leu)	SNV	Benign	1229794		GRCh37: 15:89398407-89398407 GRCh38: 15:88855176-88855176
46	ACAN	NM_001369268.1(ACAN):c.757+53T>G	SNV	Benign	1247326		GRCh37: 15:89385151-89385151 GRCh38: 15:88841920-88841920
47	ACAN	NM_001369268.1(ACAN):c.2737C>A (p.Pro913Thr)	SNV	Benign	1263931		GRCh37: 15:89398553-89398553 GRCh38: 15:88855322-88855322
48	ACAN	NM_001369268.1(ACAN):c.3180C>T (p.Thr1060=)	SNV	Benign	1286962		GRCh37: 15:89398996-89398996 GRCh38: 15:88855765-88855765
49	ACAN	NM_001369268.1(ACAN):c.4170C>G (p.Asp1390Glu)	SNV	Benign	1691107		GRCh37: 15:89399986-89399986 GRCh38: 15:88856755-88856755
50	ACAN	NM_001369268.1(ACAN):c.7119C>G (p.Phe2373Leu)	SNV	Benign	1691108		GRCh37: 15:89414671-89414671 GRCh38: 15:88871440-88871440

UniProtKB/Swiss-Prot genetic disease variations for Spondyloepimetaphyseal Dysplasia, Aggrecan Type:

⁷³

#	Symbol	AA change	Variation ID	SNP ID
1	ACAN	p.Asp2381Asn	VAR_063053	rs121913568

Sources

Expression for Spondyloepimetaphyseal Dysplasia, Aggrecan Type

Search GEO for disease gene expression data for Spondyloepimetaphyseal Dysplasia, Aggrecan Type.

Sources

Pathways for Spondyloepimetaphyseal Dysplasia, Aggrecan Type

Sources

GO Terms for Spondyloepimetaphyseal Dysplasia, Aggrecan Type

Sources

Sources for Spondyloepimetaphyseal Dysplasia, Aggrecan Type

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 24-Oct-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

SEMDAG MCID: SPN136 MIFTS: 29	Spondyloepimetaphyseal Dysplasia, Aggrecan Type (SEMDAG) 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, Aggrecan Type (SEMDAG)

Aliases & Classifications for Spondyloepimetaphyseal Dysplasia, Aggrecan Type

MalaCards integrated aliases for Spondyloepimetaphyseal Dysplasia, Aggrecan Type:

Characteristics:

Inheritance:

Prevelance:

Age Of Onset:

OMIM®:

Classifications:

External Ids:

Summaries for Spondyloepimetaphyseal Dysplasia, Aggrecan Type

Related Diseases for Spondyloepimetaphyseal Dysplasia, Aggrecan Type

Diseases related to Spondyloepimetaphyseal Dysplasia, Aggrecan Type via text searches within MalaCards or GeneCards Suite gene sharing:

Symptoms & Phenotypes for Spondyloepimetaphyseal Dysplasia, Aggrecan Type

Human phenotypes related to Spondyloepimetaphyseal Dysplasia, Aggrecan Type:

Symptoms via clinical synopsis from OMIM®:

Clinical features from OMIM®:

Drugs & Therapeutics for Spondyloepimetaphyseal Dysplasia, Aggrecan Type

Genetic Tests for Spondyloepimetaphyseal Dysplasia, Aggrecan Type

Genetic tests related to Spondyloepimetaphyseal Dysplasia, Aggrecan Type:

Anatomical Context for Spondyloepimetaphyseal Dysplasia, Aggrecan Type

Organs/tissues related to Spondyloepimetaphyseal Dysplasia, Aggrecan Type:

Publications for Spondyloepimetaphyseal Dysplasia, Aggrecan Type

Articles related to Spondyloepimetaphyseal Dysplasia, Aggrecan Type:

Genes for Spondyloepimetaphyseal Dysplasia, Aggrecan Type

Genes related to Spondyloepimetaphyseal Dysplasia, Aggrecan Type (1 elite genes):

Variations for Spondyloepimetaphyseal Dysplasia, Aggrecan Type

ClinVar genetic disease variations for Spondyloepimetaphyseal Dysplasia, Aggrecan Type:

UniProtKB/Swiss-Prot genetic disease variations for Spondyloepimetaphyseal Dysplasia, Aggrecan Type:

Expression for Spondyloepimetaphyseal Dysplasia, Aggrecan Type

Pathways for Spondyloepimetaphyseal Dysplasia, Aggrecan Type

GO Terms for Spondyloepimetaphyseal Dysplasia, Aggrecan Type

Sources for Spondyloepimetaphyseal Dysplasia, Aggrecan Type