SEMDM
MCID: SPN030
MIFTS: 42

Spondyloepimetaphyseal Dysplasia, Missouri Type (SEMDM)

Categories: Bone diseases, Fetal diseases, Genetic diseases, Rare diseases

Aliases & Classifications for Spondyloepimetaphyseal Dysplasia, Missouri Type

MalaCards integrated aliases for Spondyloepimetaphyseal Dysplasia, Missouri Type:

Name: Spondyloepimetaphyseal Dysplasia, Missouri Type 57 12 20 58 72 29 6 15
Metaphyseal Anadysplasia 1 57 72 13 6 70
Spondyloepimetaphyseal Dysplasia Type 2 20 58 72
Semd, Missouri Type 57 20 58
Missouri Type of Spondyloepimetaphyseal Dysplasia 20
Spondyloepimetaphyseal Dysplasia Missouri Type 20
Spondyloepimetaphyseal Dysplasia Type Missouri 72
Spondylometaepiphyseal Dysplasia Type Missouri 72
Anadysplasia, Metaphyseal, Type 1 39
Semd Missouri Type 20
Semd Type 2 58
Semd-Mo 72
Mandp1 72
Semdm 57

Characteristics:

Orphanet epidemiological data:

58
spondyloepimetaphyseal dysplasia, missouri type
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide);

OMIM®:

57 (Updated 20-May-2021)
Miscellaneous:
waddling gait
improvement of epimetaphyseal changes with age

Inheritance:
autosomal dominant


HPO:

31
spondyloepimetaphyseal dysplasia, missouri type:
Inheritance autosomal dominant inheritance


Classifications:

Orphanet: 58  
Rare bone diseases
Developmental anomalies during embryogenesis


External Ids:

Disease Ontology 12 DOID:0080030
OMIM® 57 602111
MeSH 44 D001848
ICD10 via Orphanet 33 Q77.7
UMLS via Orphanet 71 C1865832
Orphanet 58 ORPHA93356
UMLS 70 C2748495

Summaries for Spondyloepimetaphyseal Dysplasia, Missouri Type

GARD : 20 The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 93356 Definition Spondyloepimetaphyseal dysplasia, Missouri type is characterized by moderate-to-severe metaphyseal changes, mild epiphyseal involvement, rhizomelic shortening of the lower limbs with bowing of the femora and/or tibiae, coxa vara, genu varum and pear-shaped vertebrae in childhood. Epidemiology The syndrome has been described in a large Missouri (US) kindred with 14 affected members in 4 generations. Clinical description Though some spontaneous improvement of the skeletal defects may occur in adolescence, the affected individuals remained shorter than their age-matched unaffected sibs. Predisposition deformities to osteoarthritis (especially of the knees) have been noted. Etiology This condition is caused by mutation in the MMP13 gene ( locus 11q22.3) and transmitted in an autosomal dominant manner.

MalaCards based summary : Spondyloepimetaphyseal Dysplasia, Missouri Type, also known as metaphyseal anadysplasia 1, is related to spondyloepimetaphyseal dysplasia and osteochondrodysplasia. An important gene associated with Spondyloepimetaphyseal Dysplasia, Missouri Type is MMP13 (Matrix Metallopeptidase 13), and among its related pathways/superpathways are Metabolism of proteins and HIV Life Cycle. Affiliated tissues include bone, and related phenotypes are abnormality of the metaphysis and abnormality of epiphysis morphology

Disease Ontology : 12 A spondyloepimetaphyseal dysplasia that has material basis in mutations in the MMP13 gene which results in a pear-shaped vertebrae, abnormal metaphyseal changes, and genu varum deformities.

UniProtKB/Swiss-Prot : 72 Metaphyseal anadysplasia 1: A bone development disorder characterized by skeletal anomalies that resolve spontaneously with age. Clinical characteristics are evident from the first months of life and include slight shortness of stature and a mild varus deformity of the legs. Patients attain a normal stature in adolescence and show improvement or complete resolution of varus deformity of the legs and rhizomelic micromelia.
Spondyloepimetaphyseal dysplasia, Missouri type: A bone disease characterized by moderate to severe metaphyseal changes, mild epiphyseal involvement, rhizomelic shortening of the lower limbs with bowing of the femora and/or tibiae, coxa vara, genu varum and pear-shaped vertebrae in childhood. Epimetaphyseal changes improve with age.

More information from OMIM: 602111

Related Diseases for Spondyloepimetaphyseal Dysplasia, Missouri Type

Graphical network of the top 20 diseases related to Spondyloepimetaphyseal Dysplasia, Missouri Type:



Diseases related to Spondyloepimetaphyseal Dysplasia, Missouri Type

Symptoms & Phenotypes for Spondyloepimetaphyseal Dysplasia, Missouri Type

Human phenotypes related to Spondyloepimetaphyseal Dysplasia, Missouri Type:

58 31 (show all 27)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 abnormality of the metaphysis 58 31 hallmark (90%) Very frequent (99-80%) HP:0000944
2 abnormality of epiphysis morphology 58 31 hallmark (90%) Very frequent (99-80%) HP:0005930
3 femoral bowing 58 31 hallmark (90%) Very frequent (99-80%) HP:0002980
4 tibial bowing 58 31 hallmark (90%) Very frequent (99-80%) HP:0002982
5 spondyloepimetaphyseal dysplasia 58 31 hallmark (90%) Very frequent (99-80%) HP:0002651
6 pear-shaped vertebrae 58 31 hallmark (90%) Very frequent (99-80%) HP:0004566
7 short stature 58 31 frequent (33%) Frequent (79-30%) HP:0004322
8 osteoarthritis 58 31 frequent (33%) Frequent (79-30%) HP:0002758
9 genu varum 58 31 frequent (33%) Frequent (79-30%) HP:0002970
10 coxa vara 58 31 frequent (33%) Frequent (79-30%) HP:0002812
11 short lower limbs 58 31 frequent (33%) Frequent (79-30%) HP:0006385
12 limitation of joint mobility 58 31 occasional (7.5%) Occasional (29-5%) HP:0001376
13 skeletal dysplasia 58 Very frequent (99-80%)
14 delayed skeletal maturation 31 HP:0002750
15 waddling gait 31 HP:0002515
16 platyspondyly 31 HP:0000926
17 rhizomelia 31 HP:0008905
18 radial bowing 31 HP:0002986
19 ulnar bowing 31 HP:0003031
20 flared iliac wings 31 HP:0002869
21 flattened epiphysis 31 HP:0003071
22 limited elbow extension 31 HP:0001377
23 flared metaphysis 31 HP:0003015
24 metaphyseal cupping 31 HP:0003021
25 flared, irregular rib ends 31 HP:0006603
26 small epiphyses 31 HP:0010585
27 irregular sclerotic endplates 31 HP:0008476

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
Skeletal Limbs:
osteoarthritis
genu varum
femoral bowing
tibial bowing
radial bowing
more
Skeletal:
spondyloepimetaphyseal dysplasia
delayed bone age

Skeletal Spine:
normal odontoid process
pear-shaped vertebrae (childhood)
irregular sclerotic endplates (adults)
mild platyspondyly (adult)
schmorl nodule appearance (thoracolumbar vertebrae, adults)

Skeletal Pelvis:
coxa vara
flared iliac wings
small flattened epiphyses (proximal femur)

Chest Ribs Sternum Clavicles And Scapulae:
flared, irregular rib ends

Growth Height:
adult male height 167-173cm
adult female height 152-167cm

Clinical features from OMIM®:

602111 (Updated 20-May-2021)

GenomeRNAi Phenotypes related to Spondyloepimetaphyseal Dysplasia, Missouri Type according to GeneCards Suite gene sharing:

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased Tat-dependent HIV-LTR-beta-galactosidase protein expression GR00224-A-2 8.62 ADAMTS5 MMP13

Drugs & Therapeutics for Spondyloepimetaphyseal Dysplasia, Missouri Type

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

Genetic Tests for Spondyloepimetaphyseal Dysplasia, Missouri Type

Genetic tests related to Spondyloepimetaphyseal Dysplasia, Missouri Type:

# Genetic test Affiliating Genes
1 Spondyloepimetaphyseal Dysplasia, Missouri Type 29 MMP13

Anatomical Context for Spondyloepimetaphyseal Dysplasia, Missouri Type

MalaCards organs/tissues related to Spondyloepimetaphyseal Dysplasia, Missouri Type:

40
Bone

Publications for Spondyloepimetaphyseal Dysplasia, Missouri Type

Articles related to Spondyloepimetaphyseal Dysplasia, Missouri Type:

# Title Authors PMID Year
1
MMP13 mutation causes spondyloepimetaphyseal dysplasia, Missouri type (SEMD(MO). 57 61 6
16167086 2005
2
Mutations in MMP9 and MMP13 determine the mode of inheritance and the clinical spectrum of metaphyseal anadysplasia. 57 6
19615667 2009
3
Spondyloepimetaphyseal dysplasia: clinical and radiologic investigation of a large kindred manifesting autosomal dominant inheritance, and a review of the literature. 57 6
8412645 1993
4
MMP13 mutations are the cause of recessive metaphyseal dysplasia, Spahr type. 57
24648384 2014
5
Metaphyseal anadysplasia: evidence of genetic heterogeneity. 57
9916842 1999
6
Linkage studies of a Missouri kindred with autosomal dominant spondyloepimetaphyseal dysplasia (SEMD) indicate genetic heterogeneity. 57
9258750 1997
7
Metaphyseal anadysplasia: a metaphyseal dysplasia of early onset with radiological regression and benign course. 57
1867263 1991
8
[Metaphyseal chondrodysplasia (metaphyseal dysostosis)--a new type?]. 57
4252978 1970
9
A de novo variant in MMP13 identified in a patient with dominant metaphyseal anadysplasia. 61
30439533 2019

Variations for Spondyloepimetaphyseal Dysplasia, Missouri Type

ClinVar genetic disease variations for Spondyloepimetaphyseal Dysplasia, Missouri Type:

6 (show top 50) (show all 59)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 MMP13 NM_002427.4(MMP13):c.221T>C (p.Phe74Ser) SNV Pathogenic 9444 rs121909498 GRCh37: 11:102826122-102826122
GRCh38: 11:102955393-102955393
2 MMP13 NM_002427.4(MMP13):c.272T>C (p.Met91Thr) SNV Pathogenic 9445 rs121909499 GRCh37: 11:102826071-102826071
GRCh38: 11:102955342-102955342
3 MMP13 NM_002427.4(MMP13):c.212T>C (p.Met71Thr) SNV Pathogenic 560880 rs1565256477 GRCh37: 11:102826131-102826131
GRCh38: 11:102955402-102955402
4 MMP13 NM_002427.4(MMP13):c.703del (p.Asp235fs) Deletion Pathogenic 1030552 GRCh37: 11:102822837-102822837
GRCh38: 11:102952108-102952108
5 MMP13 NM_002427.4(MMP13):c.1052-2A>C SNV Pathogenic 373391 rs1057518391 GRCh37: 11:102818781-102818781
GRCh38: 11:102948052-102948052
6 MMP13 NM_002427.4(MMP13):c.1A>T (p.Met1Leu) SNV Pathogenic 1033916 GRCh37: 11:102826434-102826434
GRCh38: 11:102955705-102955705
7 MMP13 NM_002427.4(MMP13):c.224T>C (p.Phe75Ser) SNV Pathogenic 9443 rs121909497 GRCh37: 11:102826119-102826119
GRCh38: 11:102955390-102955390
8 MMP13 NM_002427.4(MMP13):c.223T>C (p.Phe75Leu) SNV Likely pathogenic 998000 GRCh37: 11:102826120-102826120
GRCh38: 11:102955391-102955391
9 MMP13 NM_002427.4(MMP13):c.*13A>T SNV Uncertain significance 879278 GRCh37: 11:102814982-102814982
GRCh38: 11:102944253-102944253
10 MMP13 NM_002427.4(MMP13):c.*54T>C SNV Uncertain significance 879277 GRCh37: 11:102814941-102814941
GRCh38: 11:102944212-102944212
11 MMP13 NM_002427.4(MMP13):c.*156A>G SNV Uncertain significance 879276 GRCh37: 11:102814839-102814839
GRCh38: 11:102944110-102944110
12 MMP13 NM_002427.4(MMP13):c.997C>T (p.Arg333Cys) SNV Uncertain significance 301980 rs782152104 GRCh37: 11:102819808-102819808
GRCh38: 11:102949079-102949079
13 MMP13 NM_002427.4(MMP13):c.492G>C (p.Met164Ile) SNV Uncertain significance 976145 GRCh37: 11:102825206-102825206
GRCh38: 11:102954477-102954477
14 MMP13 NM_002427.4(MMP13):c.301G>T (p.Val101Leu) SNV Uncertain significance 301990 rs151254531 GRCh37: 11:102826042-102826042
GRCh38: 11:102955313-102955313
15 MMP13 NM_002427.4(MMP13):c.*723A>T SNV Uncertain significance 877656 GRCh37: 11:102814272-102814272
GRCh38: 11:102943543-102943543
16 MMP13 NM_002427.4(MMP13):c.1101C>G (p.Pro367=) SNV Uncertain significance 717251 rs781949882 GRCh37: 11:102818730-102818730
GRCh38: 11:102948001-102948001
17 MMP13 NM_002427.4(MMP13):c.710G>A (p.Gly237Glu) SNV Uncertain significance 877736 GRCh37: 11:102822830-102822830
GRCh38: 11:102952101-102952101
18 MMP13 NM_002427.4(MMP13):c.1315+15T>C SNV Uncertain significance 301975 rs373735518 GRCh37: 11:102816360-102816360
GRCh38: 11:102945631-102945631
19 MMP13 NM_002427.4(MMP13):c.968C>T (p.Thr323Met) SNV Uncertain significance 301981 rs185832993 GRCh37: 11:102819837-102819837
GRCh38: 11:102949108-102949108
20 MMP13 NM_002427.4(MMP13):c.*1219A>C SNV Uncertain significance 301958 rs188511209 GRCh37: 11:102813776-102813776
GRCh38: 11:102943047-102943047
21 MMP13 NM_002427.4(MMP13):c.438C>T (p.Ser146=) SNV Uncertain significance 196346 rs17860530 GRCh37: 11:102825260-102825260
GRCh38: 11:102954531-102954531
22 MMP13 NM_002427.4(MMP13):c.*1171C>A SNV Uncertain significance 879218 GRCh37: 11:102813824-102813824
GRCh38: 11:102943095-102943095
23 MMP13 NM_002427.4(MMP13):c.*1052T>C SNV Uncertain significance 879219 GRCh37: 11:102813943-102813943
GRCh38: 11:102943214-102943214
24 MMP13 NM_002427.4(MMP13):c.818C>G (p.Pro273Arg) SNV Uncertain significance 879318 GRCh37: 11:102820938-102820938
GRCh38: 11:102950209-102950209
25 MMP13 NM_002427.4(MMP13):c.*954G>C SNV Uncertain significance 880416 GRCh37: 11:102814041-102814041
GRCh38: 11:102943312-102943312
26 MMP13 NM_002427.4(MMP13):c.*852C>T SNV Uncertain significance 880417 GRCh37: 11:102814143-102814143
GRCh38: 11:102943414-102943414
27 MMP13 NM_002427.4(MMP13):c.1316-15T>C SNV Uncertain significance 880459 GRCh37: 11:102815110-102815110
GRCh38: 11:102944381-102944381
28 MMP13 NM_002427.4(MMP13):c.1315+12C>T SNV Uncertain significance 880460 GRCh37: 11:102816363-102816363
GRCh38: 11:102945634-102945634
29 MMP13 NM_002427.4(MMP13):c.756T>C (p.Phe252=) SNV Uncertain significance 880506 GRCh37: 11:102822784-102822784
GRCh38: 11:102952055-102952055
30 MMP13 NM_002427.4(MMP13):c.1372C>T (p.Arg458Cys) SNV Uncertain significance 301974 rs142064825 GRCh37: 11:102815039-102815039
GRCh38: 11:102944310-102944310
31 MMP13 NM_002427.4(MMP13):c.1123C>T (p.Leu375Phe) SNV Uncertain significance 301977 rs886047557 GRCh37: 11:102818708-102818708
GRCh38: 11:102947979-102947979
32 MMP13 NM_002427.4(MMP13):c.*436G>C SNV Uncertain significance 301967 rs886047555 GRCh37: 11:102814559-102814559
GRCh38: 11:102943830-102943830
33 MMP13 NM_002427.4(MMP13):c.52C>T (p.Arg18Trp) SNV Uncertain significance 301992 rs61733406 GRCh37: 11:102826383-102826383
GRCh38: 11:102955654-102955654
34 MMP13 NM_002427.4(MMP13):c.*1007T>C SNV Uncertain significance 301960 rs886047551 GRCh37: 11:102813988-102813988
GRCh38: 11:102943259-102943259
35 MMP13 NM_002427.4(MMP13):c.935A>G (p.His312Arg) SNV Uncertain significance 301983 rs142601143 GRCh37: 11:102819870-102819870
GRCh38: 11:102949141-102949141
36 MMP13 NM_002427.4(MMP13):c.*1102T>C SNV Uncertain significance 301959 rs886047550 GRCh37: 11:102813893-102813893
GRCh38: 11:102943164-102943164
37 MMP13 NM_002427.4(MMP13):c.951T>G (p.Asp317Glu) SNV Uncertain significance 301982 rs367612153 GRCh37: 11:102819854-102819854
GRCh38: 11:102949125-102949125
38 MMP13 NM_002427.4(MMP13):c.*160G>A SNV Uncertain significance 301973 rs17860583 GRCh37: 11:102814835-102814835
GRCh38: 11:102944106-102944106
39 MMP13 NM_002427.4(MMP13):c.*756A>G SNV Uncertain significance 301965 rs886047554 GRCh37: 11:102814239-102814239
GRCh38: 11:102943510-102943510
40 MMP13 NM_002427.4(MMP13):c.686G>T (p.Gly229Val) SNV Uncertain significance 301988 rs782723542 GRCh37: 11:102822854-102822854
GRCh38: 11:102952125-102952125
41 MMP13 NM_002427.4(MMP13):c.1082A>G (p.Asp361Gly) SNV Uncertain significance 301978 rs145425594 GRCh37: 11:102818749-102818749
GRCh38: 11:102948020-102948020
42 MMP13 NM_002427.4(MMP13):c.138C>T (p.Tyr46=) SNV Uncertain significance 301991 rs200537937 GRCh37: 11:102826205-102826205
GRCh38: 11:102955476-102955476
43 MMP13 NM_002427.4(MMP13):c.509A>C (p.Lys170Thr) SNV Uncertain significance 301989 rs145243532 GRCh37: 11:102825189-102825189
GRCh38: 11:102954460-102954460
44 MMP13 NM_002427.4(MMP13):c.*264C>T SNV Uncertain significance 301972 rs555759372 GRCh37: 11:102814731-102814731
GRCh38: 11:102944002-102944002
45 MMP13 NM_002427.4(MMP13):c.*771T>G SNV Uncertain significance 301964 rs886047553 GRCh37: 11:102814224-102814224
GRCh38: 11:102943495-102943495
46 MMP13 NM_002427.4(MMP13):c.*275T>C SNV Uncertain significance 301971 rs781825443 GRCh37: 11:102814720-102814720
GRCh38: 11:102943991-102943991
47 MMP13 NM_002427.4(MMP13):c.*628A>G SNV Likely benign 301966 rs114428333 GRCh37: 11:102814367-102814367
GRCh38: 11:102943638-102943638
48 MMP13 NM_002427.4(MMP13):c.770A>T (p.Asp257Val) SNV Likely benign 301987 rs140993310 GRCh37: 11:102822770-102822770
GRCh38: 11:102952041-102952041
49 MMP13 NM_002427.4(MMP13):c.1080T>C (p.Tyr360=) SNV Likely benign 301979 rs61737008 GRCh37: 11:102818751-102818751
GRCh38: 11:102948022-102948022
50 MMP13 NM_002427.4(MMP13):c.23C>T (p.Ala8Val) SNV Likely benign 879360 GRCh37: 11:102826412-102826412
GRCh38: 11:102955683-102955683

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

72
# Symbol AA change Variation ID SNP ID
1 MMP13 p.Phe75Ser VAR_032753 rs121909497
2 MMP13 p.Phe74Ser VAR_063432 rs121909498
3 MMP13 p.Met91Thr VAR_063433 rs121909499
4 MMP13 p.His232Asn VAR_063434 rs121909500

Expression for Spondyloepimetaphyseal Dysplasia, Missouri Type

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

Pathways for Spondyloepimetaphyseal Dysplasia, Missouri Type

GO Terms for Spondyloepimetaphyseal Dysplasia, Missouri Type

Cellular components related to Spondyloepimetaphyseal Dysplasia, Missouri Type according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 extracellular region GO:0005576 9.7 MMP13 ADAMTS9 ADAMTS5 ADAMTS4 ADAMTS3 ADAMTS15
2 extracellular space GO:0005615 9.65 MMP13 ADAMTS5 ADAMTS4 ADAMTS3 ADAMTS15
3 collagen-containing extracellular matrix GO:0062023 9.43 ADAMTS9 ADAMTS5 ADAMTS4 ADAMTS3 ADAMTS15 ACAN
4 extracellular matrix GO:0031012 9.17 MMP13 ADAMTS9 ADAMTS5 ADAMTS4 ADAMTS3 ADAMTS15

Biological processes related to Spondyloepimetaphyseal Dysplasia, Missouri Type according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 proteolysis GO:0006508 9.5 MMP13 ADAMTS9 ADAMTS5 ADAMTS4 ADAMTS3 ADAMTS15
2 extracellular matrix disassembly GO:0022617 9.33 MMP13 ADAMTS5 ADAMTS4
3 collagen fibril organization GO:0030199 9.32 ADAMTS3 ACAN
4 collagen catabolic process GO:0030574 9.26 MMP13 ADAMTS3
5 extracellular matrix organization GO:0030198 9.17 MMP13 ADAMTS9 ADAMTS5 ADAMTS4 ADAMTS3 ADAMTS15

Molecular functions related to Spondyloepimetaphyseal Dysplasia, Missouri Type according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 metal ion binding GO:0046872 9.91 MMP13 ADAMTS9 ADAMTS5 ADAMTS4 ADAMTS3 ADAMTS15
2 hydrolase activity GO:0016787 9.73 MMP13 ADAMTS9 ADAMTS5 ADAMTS4 ADAMTS3 ADAMTS15
3 zinc ion binding GO:0008270 9.72 MMP13 ADAMTS9 ADAMTS5 ADAMTS3 ADAMTS15
4 peptidase activity GO:0008233 9.63 MMP13 ADAMTS9 ADAMTS5 ADAMTS4 ADAMTS3 ADAMTS15
5 heparin binding GO:0008201 9.61 ADAMTS5 ADAMTS3 ADAMTS15
6 endopeptidase activity GO:0004175 9.58 MMP13 ADAMTS3 ADAMTS15
7 extracellular matrix binding GO:0050840 9.46 ADAMTS5 ADAMTS15
8 metallopeptidase activity GO:0008237 9.43 MMP13 ADAMTS9 ADAMTS5 ADAMTS4 ADAMTS3 ADAMTS15
9 metalloendopeptidase activity GO:0004222 9.1 MMP13 ADAMTS9 ADAMTS5 ADAMTS4 ADAMTS3 ADAMTS15

Sources for Spondyloepimetaphyseal Dysplasia, Missouri Type

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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