MCID: DYG001
MIFTS: 32

Dyggve-Melchior-Clausen Disease

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

Aliases & Classifications for Dyggve-Melchior-Clausen Disease

MalaCards integrated aliases for Dyggve-Melchior-Clausen Disease:

Name: Dyggve-Melchior-Clausen Disease 57 12 53 59 13
Dyggve-Melchior-Clausen Syndrome 53 75 29 6 40 73
Dmc 57 75
Pseudo-Morquio Disease Type I 12
Dmc Syndrome 53
Dmc Disease 12

Characteristics:

Orphanet epidemiological data:

59
dyggve-melchior-clausen disease
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy;

OMIM:

57
Miscellaneous:
waddling gait
allelic with smith-mccort dysplasia

Inheritance:
autosomal recessive


HPO:

32
dyggve-melchior-clausen disease:
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Dyggve-Melchior-Clausen Disease

NIH Rare Diseases : 53 Dyggve-Melchior-Clausen (DMC) syndrome is a rare, progressive genetic condition characterized by abnormal skeletal development, microcephaly, and intellectual disability. Only about 100 cases have been reported to date. Skeletal abnormalities may include a barrel-shaped chest with a short truck, partial dislocation of the hips, knock knees, bowlegs, and decreased joint mobility. A small number of affected individuals experience instability in the upper neck vertebrae that can lead to spinal cord compression, weakness and paralysis. Normally, there is growth deficiency resulting in short stature. DMC is caused by mutations in the DYM gene and is inherited in an autosomal recessive manner. Some researchers have described an X-linked pattern of inheritance, which has not been confirmed to date.

MalaCards based summary : Dyggve-Melchior-Clausen Disease, also known as dyggve-melchior-clausen syndrome, is related to dyggve-melchior-clausen syndrome, x-linked and smith-mccort dysplasia 1, and has symptoms including waddling gait An important gene associated with Dyggve-Melchior-Clausen Disease is DYM (Dymeclin). Affiliated tissues include spinal cord and bone, and related phenotypes are short neck and genu valgum

UniProtKB/Swiss-Prot : 75 Dyggve-Melchior-Clausen syndrome: A rare autosomal recessive disorder belonging to the group of spondyloepimetaphyseal dysplasias. DMC is characterized by progressive short stature with short trunk dwarfism, microcephaly, protruding sternum, and psychomotor retardation. Radiological features include a platyspondyly with double vertebral humps, an epiphyso-metaphyseal dysplasia and lacy pelvis iliac crests.

Disease Ontology : 12 A spondyloepimetaphyseal dysplasia characterized by clawed fingers, platyspondyly of the spine, abnormalities of the iliac crest, intellectual disability and mucopolysaccharide in the urine that has material basis in homozygous or compound heterozygous mutation in the DYM gene on chromosome 18q21.

Description from OMIM: 223800

Related Diseases for Dyggve-Melchior-Clausen Disease

Diseases related to Dyggve-Melchior-Clausen Disease via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 dyggve-melchior-clausen syndrome, x-linked 12.5
2 smith-mccort dysplasia 1 11.5

Symptoms & Phenotypes for Dyggve-Melchior-Clausen Disease

Symptoms via clinical synopsis from OMIM:

57
Head And Neck Neck:
short neck

Skeletal Spine:
scoliosis
platyspondyly
thoracic kyphosis
hypoplastic odontoid process
increased lumbar lordosis
more
Growth Other:
postnatal growth retardation

Skeletal Hands:
camptodactyly
short metacarpals
cone-shaped epiphyses
small carpals
broad hands

Head And Neck Face:
prognathism
coarse facies

Chest Ribs Sternum Clavicles And Scapulae:
small scapula
sternal protrusion
wide costochondral junctions
flat glenoid fossa
flared acromion

Chest External Features:
short trunk
broad chest

Skeletal Limbs:
genu valgum
rhizomelia
multicentric ossification of proximal humeral epiphyses
multicentric ossification of proximal femoral epiphyses

Head And Neck Head:
microcephaly

Skeletal Pelvis:
flat acetabular roof
small iliac wings
wide pubic symphysis
irregular, lacy iliac crests
wide sacroiliac joint
more
Skeletal Skull:
hypoplastic facial bones
calvarial thickening (parietal and occipital regions)
hyperpneumatization of paranasal sinuses
deformed sella turcica

Skeletal Feet:
short metatarsals
broad feet

Growth Height:
short stature, disproportionate
adult height 98-127 cm

Neurologic Central Nervous System:
severe psychomotor retardation (iq 35-65)


Clinical features from OMIM:

223800

Human phenotypes related to Dyggve-Melchior-Clausen Disease:

59 32 (show top 50) (show all 61)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 short neck 59 32 frequent (33%) Frequent (79-30%) HP:0000470
2 genu valgum 59 32 hallmark (90%) Very frequent (99-80%) HP:0002857
3 abnormality of epiphysis morphology 59 32 hallmark (90%) Very frequent (99-80%) HP:0005930
4 intellectual disability 59 32 hallmark (90%) Very frequent (99-80%) HP:0001249
5 neurological speech impairment 59 32 frequent (33%) Frequent (79-30%) HP:0002167
6 scoliosis 59 32 frequent (33%) Frequent (79-30%) HP:0002650
7 kyphosis 59 32 frequent (33%) Frequent (79-30%) HP:0002808
8 hyperlordosis 59 32 frequent (33%) Frequent (79-30%) HP:0003307
9 coarse facial features 59 32 frequent (33%) Frequent (79-30%) HP:0000280
10 global developmental delay 59 32 hallmark (90%) Very frequent (99-80%) HP:0001263
11 skeletal dysplasia 59 32 hallmark (90%) Very frequent (99-80%) HP:0002652
12 pectus carinatum 59 32 hallmark (90%) Very frequent (99-80%) HP:0000768
13 joint stiffness 59 32 frequent (33%) Frequent (79-30%) HP:0001387
14 microcephaly 59 32 frequent (33%) Frequent (79-30%) HP:0000252
15 abnormality of the metaphysis 59 32 hallmark (90%) Very frequent (99-80%) HP:0000944
16 disproportionate short-trunk short stature 59 32 frequent (33%) Frequent (79-30%) HP:0003521
17 platyspondyly 59 32 hallmark (90%) Very frequent (99-80%) HP:0000926
18 micromelia 59 32 hallmark (90%) Very frequent (99-80%) HP:0002983
19 short thorax 59 32 hallmark (90%) Very frequent (99-80%) HP:0010306
20 autism 59 32 occasional (7.5%) Occasional (29-5%) HP:0000717
21 attention deficit hyperactivity disorder 59 32 occasional (7.5%) Occasional (29-5%) HP:0007018
22 postnatal growth retardation 59 32 frequent (33%) Frequent (79-30%) HP:0008897
23 hip dislocation 59 32 hallmark (90%) Very frequent (99-80%) HP:0002827
24 spinal canal stenosis 59 32 frequent (33%) Frequent (79-30%) HP:0003416
25 abnormality of the ilium 59 32 hallmark (90%) Very frequent (99-80%) HP:0002867
26 sloping forehead 59 32 frequent (33%) Frequent (79-30%) HP:0000340
27 abnormality of the wrist 59 32 frequent (33%) Frequent (79-30%) HP:0003019
28 hypoplasia of the odontoid process 59 32 frequent (33%) Frequent (79-30%) HP:0003311
29 shoulder dislocation 59 32 occasional (7.5%) Occasional (29-5%) HP:0003834
30 mandibular prognathia 32 HP:0000303
31 thickened calvaria 32 HP:0002684
32 beaking of vertebral bodies 32 HP:0004568
33 carpal bone hypoplasia 32 HP:0001498
34 severe global developmental delay 32 HP:0011344
35 abnormality of the hip bone 59 Very frequent (99-80%)
36 shield chest 32 HP:0000914
37 hypoplastic iliac wing 32 HP:0002866
38 rhizomelia 32 HP:0008905
39 thoracic kyphosis 32 HP:0002942
40 flat acetabular roof 32 HP:0003180
41 short metacarpal 32 HP:0010049
42 broad foot 32 HP:0001769
43 broad palm 32 HP:0001169
44 hypoplastic scapulae 32 HP:0000882
45 disproportionate short stature 59 Very frequent (99-80%)
46 cone-shaped epiphyses of the phalanges of the hand 32 HP:0010230
47 barrel-shaped chest 32 HP:0001552
48 lumbar hyperlordosis 32 HP:0002938
49 camptodactyly 32 HP:0012385
50 short metatarsal 32 HP:0010743

UMLS symptoms related to Dyggve-Melchior-Clausen Disease:


waddling gait

Drugs & Therapeutics for Dyggve-Melchior-Clausen Disease

Search Clinical Trials , NIH Clinical Center for Dyggve-Melchior-Clausen Disease

Genetic Tests for Dyggve-Melchior-Clausen Disease

Genetic tests related to Dyggve-Melchior-Clausen Disease:

# Genetic test Affiliating Genes
1 Dyggve-Melchior-Clausen Syndrome 29 DYM

Anatomical Context for Dyggve-Melchior-Clausen Disease

MalaCards organs/tissues related to Dyggve-Melchior-Clausen Disease:

41
Spinal Cord, Bone

Publications for Dyggve-Melchior-Clausen Disease

Articles related to Dyggve-Melchior-Clausen Disease:

(show all 42)
# Title Authors Year
1
A novel frameshift mutation and infrequent clinical findings in two cases with Dyggve-Melchior-Clausen syndrome. ( 24300288 )
2014
2
Unpredictability of hip behavior in Dyggve-Melchior-Clausen syndrome: a mid-term assessment of siblings. ( 24035654 )
2013
3
Management of progressive genu varum in a patient with Dyggve-Melchior-Clausen syndrome. ( 21966286 )
2011
4
Dymeclin, the gene underlying Dyggve-Melchior-Clausen syndrome, encodes a protein integral to extracellular matrix and Golgi organization and is associated with protein secretion pathways critical in bone development. ( 21280149 )
2011
5
Dyggve-Melchior-Clausen syndrome: novel splice mutation with atlanto-axial subluxation. ( 20865280 )
2011
6
A recurrent mutation in Moroccan patients with Dyggve-Melchior-Clausen syndrome: Report of a new case and review. ( 22090722 )
2011
7
Dyggve melchior clausen syndrome. ( 21149903 )
2010
8
Dyggve-Melchior-Clausen syndrome: clinical, genetic, and radiological study of 15 Egyptian patients from nine unrelated families. ( 19816730 )
2009
9
The gene responsible for Dyggve-Melchior-Clausen syndrome encodes a novel peripheral membrane protein dynamically associated with the Golgi apparatus. ( 18996921 )
2009
10
Dyggve-Melchior-Clausen syndrome: chondrodysplasia resulting from defects in intracellular vesicle traffic. ( 18852472 )
2008
11
Novel mutation and atlantoaxial dislocation in two siblings from India with Dyggve-Melchior-Clausen syndrome. ( 18243083 )
2008
12
[Dyggve-Melchior-Clausen syndrome: presentation of a case with a mutation of possible Spanish origin]. ( 17288936 )
2007
13
[Dyggve-Melchior-Clausen syndrome, diagnostic difficulty due to it similarity to Morquio disease]. ( 17323241 )
2007
14
Dyggve-Melchior-Clausen syndrome and Smith-McCort dysplasia: clinical and molecular findings in three families supporting genetic heterogeneity in Smith-McCort dysplasia. ( 16470731 )
2006
15
MRI findings in Dyggve-Melchior-Clausen syndrome, a rare spondyloepiphyseal dysplasia. ( 16161079 )
2005
16
Genomic duplication in Dyggve Melchior Clausen syndrome, a novel mutation mechanism in an autosomal recessive disorder. ( 16326827 )
2005
17
Dyggve-Melchior-Clausen syndrome without mental retardation (Smith-McCort dysplasia). ( 16206059 )
2005
18
Recent advances in Dyggve-Melchior-Clausen syndrome. ( 15464420 )
2004
19
Dyggve-Melchior-Clausen syndrome: report of seven patients with the Smith-McCort variant and review of the literature. ( 12499951 )
2003
20
Mutations in a novel gene dymeclin (FLJ20071) are responsible for Dyggve-Melchior-Clausen syndrome. ( 12554689 )
2003
21
Homozygosity mapping of a Dyggve-Melchior-Clausen syndrome gene to chromosome 18q21.1. ( 12362026 )
2002
22
Atlantoaxial instability in Dyggve-Melchior-Clausen syndrome. Case report and review of the literature. ( 11795698 )
2002
23
Treatment of hip subluxation in Dyggve-Melchior-Clausen syndrome. ( 9481654 )
1998
24
Dyggve-Melchior-Clausen syndrome without mental retardation (Smith-McCort dysplasia): morphological findings in the growth plate of the iliac crest. ( 9295067 )
1997
25
Dyggve-Melchior-Clausen syndrome with increased pipecolic acid in plasma and urine. ( 1779646 )
1991
26
Dyggve-Melchior-Clausen syndrome. ( 2213845 )
1990
27
Case report 431: Dyggve-Melchior-Clausen syndrome (DMCS). ( 3114890 )
1987
28
Dyggve-Melchior-Clausen syndrome (type II). ( 3571148 )
1987
29
Dyggve-Melchior-Clausen syndrome: normal degradation of proteodermatan sulfate, proteokeratan sulfate and heparan sulfate. ( 6235983 )
1984
30
[Dyggve-Melchior-Clausen syndrome]. ( 6506057 )
1984
31
Dyggve-Melchior-Clausen syndrome. A histochemical study of the growth plate. ( 6277958 )
1982
32
[Dyggve-Melchior-Clausen syndrome. Case report and review of the literature]. ( 7037691 )
1981
33
X-linked Dyggve-Melchior-Clausen syndrome. ( 7192195 )
1980
34
Abnormal serum alpha 2-macroglobulin in Dyggve-Melchior-Clausen syndrome. ( 6153699 )
1980
35
Dyggve-Melchior-Clausen syndrome: genetic studies and report of affected sibs. ( 117710 )
1979
36
The Dyggve-Melchior-Clausen syndrome in adult siblings. ( 679519 )
1978
37
Biochemical abnormalities in Dyggve-Melchior-Clausen syndrome. ( 639301 )
1978
38
The Dyggve-Melchior-Clausen syndrome. ( 141987 )
1977
39
The Dyggve-Melchior-Clausen syndrome. ( 1008064 )
1976
40
The Dyggve-Melchior-Clausen syndrome. ( 803318 )
1975
41
Concentrically laminated membranous inclusions in myofibres of Dyggve-Melchior-Clausen syndrome. ( 4361665 )
1974
42
The Dyggve-Melchior-Clausen syndrome. ( 5006211 )
1971

Variations for Dyggve-Melchior-Clausen Disease

UniProtKB/Swiss-Prot genetic disease variations for Dyggve-Melchior-Clausen Disease:

75
# Symbol AA change Variation ID SNP ID
1 DYM p.Asn469Tyr VAR_054499 rs120074163

ClinVar genetic disease variations for Dyggve-Melchior-Clausen Disease:

6
(show top 50) (show all 93)
# Gene Variation Type Significance SNP ID Assembly Location
1 DYM NM_017653.4(DYM): c.48C> G (p.Tyr16Ter) single nucleotide variant Pathogenic rs120074161 GRCh37 Chromosome 18, 46956717: 46956717
2 DYM NM_017653.4(DYM): c.48C> G (p.Tyr16Ter) single nucleotide variant Pathogenic rs120074161 GRCh38 Chromosome 18, 49430347: 49430347
3 DYM DYM, 1-BP DEL deletion Pathogenic
4 DYM NM_017653.3(DYM): c.396T> A (p.Tyr132Ter) single nucleotide variant Pathogenic rs120074162 GRCh37 Chromosome 18, 46904962: 46904962
5 DYM NM_017653.3(DYM): c.396T> A (p.Tyr132Ter) single nucleotide variant Pathogenic rs120074162 GRCh38 Chromosome 18, 49378592: 49378592
6 DYM NM_017653.4(DYM): c.1405A> T (p.Asn469Tyr) single nucleotide variant Pathogenic rs120074163 GRCh37 Chromosome 18, 46783435: 46783435
7 DYM NM_017653.4(DYM): c.1405A> T (p.Asn469Tyr) single nucleotide variant Pathogenic rs120074163 GRCh38 Chromosome 18, 49257065: 49257065
8 DYM DYM, IVS7AS, A-G, -2 single nucleotide variant Pathogenic
9 DYM DYM, IVS11, G-A, -1 single nucleotide variant Pathogenic
10 DYM DYM, 1-BP DEL, 1877A deletion Pathogenic
11 DYM DYM, IVS5AS, A-G, -2 single nucleotide variant Pathogenic
12 DYM NM_017653.4(DYM): c.1344A> G (p.Gln448=) single nucleotide variant Uncertain significance rs77902523 GRCh37 Chromosome 18, 46784771: 46784771
13 DYM NM_017653.4(DYM): c.1344A> G (p.Gln448=) single nucleotide variant Uncertain significance rs77902523 GRCh38 Chromosome 18, 49258401: 49258401
14 DYM NM_017653.4(DYM): c.122delT (p.Phe41Serfs) deletion Pathogenic rs794727290 GRCh37 Chromosome 18, 46956643: 46956643
15 DYM NM_017653.4(DYM): c.122delT (p.Phe41Serfs) deletion Pathogenic rs794727290 GRCh38 Chromosome 18, 49430273: 49430273
16 DYM NM_017653.4(DYM): c.621-2A> G single nucleotide variant Pathogenic rs775414124 GRCh37 Chromosome 18, 46858378: 46858378
17 DYM NM_017653.4(DYM): c.621-2A> G single nucleotide variant Pathogenic rs775414124 GRCh38 Chromosome 18, 49332008: 49332008
18 DYM NM_017653.4(DYM): c.1552C> T (p.Leu518=) single nucleotide variant Conflicting interpretations of pathogenicity rs145279594 GRCh37 Chromosome 18, 46690066: 46690066
19 DYM NM_017653.4(DYM): c.1552C> T (p.Leu518=) single nucleotide variant Conflicting interpretations of pathogenicity rs145279594 GRCh38 Chromosome 18, 49163696: 49163696
20 DYM NM_017653.4(DYM): c.1778A> G (p.Gln593Arg) single nucleotide variant Uncertain significance rs146000214 GRCh37 Chromosome 18, 46623854: 46623854
21 DYM NM_017653.4(DYM): c.1778A> G (p.Gln593Arg) single nucleotide variant Uncertain significance rs146000214 GRCh38 Chromosome 18, 49097484: 49097484
22 DYM NM_017653.4(DYM): c.288-10G> A single nucleotide variant Uncertain significance rs557407004 GRCh37 Chromosome 18, 46905080: 46905080
23 DYM NM_017653.4(DYM): c.288-10G> A single nucleotide variant Uncertain significance rs557407004 GRCh38 Chromosome 18, 49378710: 49378710
24 DYM NM_017653.4(DYM): c.1830C> T (p.Gly610=) single nucleotide variant Uncertain significance rs370290857 GRCh37 Chromosome 18, 46623802: 46623802
25 DYM NM_017653.4(DYM): c.1830C> T (p.Gly610=) single nucleotide variant Uncertain significance rs370290857 GRCh38 Chromosome 18, 49097432: 49097432
26 DYM NM_017653.4(DYM): c.1812G> A (p.Leu604=) single nucleotide variant Uncertain significance rs201023000 GRCh37 Chromosome 18, 46623820: 46623820
27 DYM NM_017653.4(DYM): c.1812G> A (p.Leu604=) single nucleotide variant Uncertain significance rs201023000 GRCh38 Chromosome 18, 49097450: 49097450
28 DYM NM_017653.4(DYM): c.573A> T (p.Glu191Asp) single nucleotide variant Uncertain significance rs370414289 GRCh38 Chromosome 18, 49333775: 49333775
29 DYM NM_017653.4(DYM): c.573A> T (p.Glu191Asp) single nucleotide variant Uncertain significance rs370414289 GRCh37 Chromosome 18, 46860145: 46860145
30 DYM NM_017653.4(DYM): c.421A> G (p.Ser141Gly) single nucleotide variant Likely benign rs61729806 GRCh38 Chromosome 18, 49378567: 49378567
31 DYM NM_017653.4(DYM): c.421A> G (p.Ser141Gly) single nucleotide variant Likely benign rs61729806 GRCh37 Chromosome 18, 46904937: 46904937
32 DYM NM_017653.4(DYM): c.342G> A (p.Leu114=) single nucleotide variant Likely benign rs35357262 GRCh38 Chromosome 18, 49378646: 49378646
33 DYM NM_017653.4(DYM): c.342G> A (p.Leu114=) single nucleotide variant Likely benign rs35357262 GRCh37 Chromosome 18, 46905016: 46905016
34 DYM NM_017653.4(DYM): c.297C> T (p.Phe99=) single nucleotide variant Uncertain significance rs886053847 GRCh38 Chromosome 18, 49378691: 49378691
35 DYM NM_017653.4(DYM): c.297C> T (p.Phe99=) single nucleotide variant Uncertain significance rs886053847 GRCh37 Chromosome 18, 46905061: 46905061
36 DYM NM_017653.4(DYM): c.-94G> C single nucleotide variant Uncertain significance rs886053848 GRCh38 Chromosome 18, 49460438: 49460438
37 DYM NM_017653.4(DYM): c.-94G> C single nucleotide variant Uncertain significance rs886053848 GRCh37 Chromosome 18, 46986808: 46986808
38 DYM NM_017653.4(DYM): c.-154G> T single nucleotide variant Uncertain significance rs547563112 GRCh38 Chromosome 18, 49460498: 49460498
39 DYM NM_017653.4(DYM): c.-154G> T single nucleotide variant Uncertain significance rs547563112 GRCh37 Chromosome 18, 46986868: 46986868
40 DYM NM_017653.4(DYM): c.-251G> T single nucleotide variant Uncertain significance rs886053852 GRCh38 Chromosome 18, 49460595: 49460595
41 DYM NM_017653.4(DYM): c.-251G> T single nucleotide variant Uncertain significance rs886053852 GRCh37 Chromosome 18, 46986965: 46986965
42 DYM NM_017653.4(DYM): c.*22G> A single nucleotide variant Likely benign rs113500346 GRCh37 Chromosome 18, 46570403: 46570403
43 DYM NM_017653.4(DYM): c.*22G> A single nucleotide variant Likely benign rs113500346 GRCh38 Chromosome 18, 49044033: 49044033
44 DYM NM_017653.4(DYM): c.1749G> C (p.Val583=) single nucleotide variant Likely benign rs60818038 GRCh37 Chromosome 18, 46623883: 46623883
45 DYM NM_017653.4(DYM): c.1749G> C (p.Val583=) single nucleotide variant Likely benign rs60818038 GRCh38 Chromosome 18, 49097513: 49097513
46 DYM NM_017653.4(DYM): c.1116G> A (p.Met372Ile) single nucleotide variant Uncertain significance rs775476671 GRCh37 Chromosome 18, 46808376: 46808376
47 DYM NM_017653.4(DYM): c.1116G> A (p.Met372Ile) single nucleotide variant Uncertain significance rs775476671 GRCh38 Chromosome 18, 49282006: 49282006
48 DYM NM_017653.4(DYM): c.961C> T (p.Pro321Ser) single nucleotide variant Uncertain significance rs886053845 GRCh38 Chromosome 18, 49282161: 49282161
49 DYM NM_017653.4(DYM): c.961C> T (p.Pro321Ser) single nucleotide variant Uncertain significance rs886053845 GRCh37 Chromosome 18, 46808531: 46808531
50 DYM NM_017653.4(DYM): c.42T> G (p.Asn14Lys) single nucleotide variant Uncertain significance rs768630165 GRCh38 Chromosome 18, 49430353: 49430353

Expression for Dyggve-Melchior-Clausen Disease

Search GEO for disease gene expression data for Dyggve-Melchior-Clausen Disease.

Pathways for Dyggve-Melchior-Clausen Disease

GO Terms for Dyggve-Melchior-Clausen Disease

Sources for Dyggve-Melchior-Clausen Disease

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