MCID: MTT002
MIFTS: 35

Metatropic Dysplasia

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

Aliases & Classifications for Metatropic Dysplasia

MalaCards integrated aliases for Metatropic Dysplasia:

Name: Metatropic Dysplasia 57 53 25 59 75 13
Metatropic Dwarfism 57 76 53 25 59 75
Metatropic Dysplasia Type 1 25 73
Metatropic Dysplasia, Nonlethal Dominant 53
Mtd 75

Characteristics:

Orphanet epidemiological data:

59
metatropic dysplasia
Inheritance: Autosomal dominant,Not applicable; Prevalence: <1/1000000 (Worldwide); Age of onset: Antenatal,Neonatal; Age of death: any age;

OMIM:

57
Inheritance:
autosomal dominant


HPO:

32
metatropic dysplasia:
Inheritance autosomal dominant inheritance


Classifications:



Summaries for Metatropic Dysplasia

NIH Rare Diseases : 53 Metatropic dysplasia is a skeletal disorder characterized by short stature, shortened arms and legs, and a long narrow chest. The signs and symptoms of this condition can vary from life threatening to mild. Signs and symptoms may include worsening abnormal curvature of the spine (scoliosis and kyphosis), flattening of the bones of the spine (platyspondyly), and restriction of certain joints in the body. Some individuals are additionally born with an elongated tailbone known as a coccygeal tail. Metatropic dysplasia is caused by mutations in the TRPV4 gene and is inherited in an autosomal dominant manner. Although there is no specific treatment or cure, there can be ways to manage the symptoms. A team of doctors is often needed to figure out the treatment options based on each person’s symptoms.

MalaCards based summary : Metatropic Dysplasia, also known as metatropic dwarfism, is related to kniest dysplasia and atelosteogenesis, type i. An important gene associated with Metatropic Dysplasia is TRPV4 (Transient Receptor Potential Cation Channel Subfamily V Member 4). Affiliated tissues include bone, lung and trachea, and related phenotypes are hydrocephalus and scoliosis

OMIM : 57 Metatropic dysplasia (MD) is characterized by short limbs with limitation and enlargement of joints and usually severe kyphoscoliosis. Radiologic features include severe platyspondyly, severe metaphyseal enlargement, and shortening of long bones (Genevieve et al., 2008). (156530)

UniProtKB/Swiss-Prot : 75 Metatropic dysplasia: A severe spondyloepimetaphyseal dysplasia characterized by short limbs with limitation and enlargement of joints and usually severe kyphoscoliosis. Radiologic features include severe platyspondyly, severe metaphyseal enlargement and shortening of long bones.

Genetics Home Reference : 25 Metatropic dysplasia is a skeletal disorder characterized by short stature (dwarfism) with other skeletal abnormalities. The term "metatropic" is derived from the Greek word "metatropos," which means "changing patterns." This name reflects the fact that the skeletal abnormalities associated with the condition change over time.

Wikipedia : 76 Dwarfism, also known as short stature, occurs when an organism is extremely small. In humans, it is... more...

Related Diseases for Metatropic Dysplasia

Diseases related to Metatropic Dysplasia via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 17)
# Related Disease Score Top Affiliating Genes
1 kniest dysplasia 11.1
2 atelosteogenesis, type i 11.0
3 boomerang dysplasia 11.0
4 brachyolmia type 3 11.0
5 cervicitis 10.1
6 type i 10.1
7 spondyloepimetaphyseal dysplasia, strudwick type 9.9
8 spondylometaphyseal dysplasia, kozlowski type 9.9
9 aging 9.9
10 odontoid hypoplasia 9.9
11 spinal stenosis 9.9
12 neuropathy 9.9
13 skeletal dysplasias 9.9
14 small cell cancer of the lung 9.9
15 lung cancer 9.9
16 pre-eclampsia 9.9
17 eclampsia 9.9

Graphical network of the top 20 diseases related to Metatropic Dysplasia:



Diseases related to Metatropic Dysplasia

Symptoms & Phenotypes for Metatropic Dysplasia

Symptoms via clinical synopsis from OMIM:

57
Skeletal Limbs:
epiphyseal dysplasia
flared femurs and humeri
dumbbell-shaped metaphyses
prominent joints
a thin seal of bone at the chondroosseous junction
more
Respiratory:
respiratory failure

Skeletal Pelvis:
halberd-shaped pelvis
hyperplastic femoral trochanters
supra-acetabular notches

Growth Height:
dwarfism, short limbed, recognizable at birth

Chest Ribs Sternum Clavicles And Scapulae:
short ribs with cupped ends

Neurologic Peripheral Nervous System:
fetal akinesia (in some patients)
peripheral axonal neuropathy (in some patients)

Skeletal Spine:
platyspondyly
anisospondyly
severe scoliosis
relatively short spine
severe kyphosis
more
Skeletal Hands:
brachydactyly
delayed carpal age

Chest External Features:
narrow thorax

Respiratory Airways:
exuberant cartilage formation in the trachea and bronchi

Skeletal:
arthrogryposis multiplex (in some patients)
joint contractures (in some patients)

Prenatal Manifestations Movement:
decreased fetal movements (in some patients)


Clinical features from OMIM:

156530

Human phenotypes related to Metatropic Dysplasia:

59 32 (show all 45)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 hydrocephalus 59 32 occasional (7.5%) Occasional (29-5%) HP:0000238
2 scoliosis 59 32 hallmark (90%) Very frequent (99-80%) HP:0002650
3 kyphosis 59 32 hallmark (90%) Very frequent (99-80%) HP:0002808
4 cataract 59 32 occasional (7.5%) Occasional (29-5%) HP:0000518
5 skeletal dysplasia 59 32 hallmark (90%) Very frequent (99-80%) HP:0002652
6 depressed nasal bridge 59 32 hallmark (90%) Very frequent (99-80%) HP:0005280
7 joint stiffness 59 32 hallmark (90%) Very frequent (99-80%) HP:0001387
8 abnormal cortical bone morphology 59 32 hallmark (90%) Very frequent (99-80%) HP:0003103
9 cleft palate 59 32 occasional (7.5%) Occasional (29-5%) HP:0000175
10 abnormality of the metaphysis 59 32 hallmark (90%) Very frequent (99-80%) HP:0000944
11 narrow chest 59 32 hallmark (90%) Very frequent (99-80%) HP:0000774
12 micromelia 59 32 hallmark (90%) Very frequent (99-80%) HP:0002983
13 abnormal form of the vertebral bodies 59 32 hallmark (90%) Very frequent (99-80%) HP:0003312
14 clinodactyly of the 5th finger 59 32 occasional (7.5%) Occasional (29-5%) HP:0004209
15 low-set, posteriorly rotated ears 59 32 occasional (7.5%) Occasional (29-5%) HP:0000368
16 abnormality of the ribs 59 32 hallmark (90%) Very frequent (99-80%) HP:0000772
17 severe short stature 59 32 hallmark (90%) Very frequent (99-80%) HP:0003510
18 high forehead 59 32 hallmark (90%) Very frequent (99-80%) HP:0000348
19 long thorax 59 32 hallmark (90%) Very frequent (99-80%) HP:0100818
20 camptodactyly of finger 59 32 occasional (7.5%) Occasional (29-5%) HP:0100490
21 hypoplastic cervical vertebrae 59 32 hallmark (90%) Very frequent (99-80%) HP:0008434
22 aplasia/hypoplasia of the lungs 59 32 occasional (7.5%) Occasional (29-5%) HP:0006703
23 abnormality of the intervertebral disk 59 32 hallmark (90%) Very frequent (99-80%) HP:0005108
24 rough bone trabeculation 59 32 hallmark (90%) Very frequent (99-80%) HP:0100670
25 halberd-shaped pelvis 59 32 hallmark (90%) Very frequent (99-80%) HP:0002826
26 abnormal enchondral ossification 59 32 hallmark (90%) Very frequent (99-80%) HP:0003336
27 flexion contracture 32 occasional (7.5%) HP:0001371
28 epiphyseal dysplasia 32 HP:0002656
29 platyspondyly 32 HP:0000926
30 respiratory failure 32 HP:0002878
31 brachydactyly 32 HP:0001156
32 anisospondyly 32 HP:0002879
33 short finger 32 HP:0009381
34 enlarged joints 32 HP:0003037
35 peripheral axonal neuropathy 32 occasional (7.5%) HP:0003477
36 fetal akinesia sequence 32 occasional (7.5%) HP:0001989
37 relatively short spine 32 HP:0002766
38 long coccyx 32 HP:0002831
39 dumbbell-shaped metaphyses 32 HP:0002810
40 absent primary metaphyseal spongiosa 32 HP:0003332
41 abnormal metaphyseal vascular invasion 32 HP:0003562
42 caudal appendage 32 HP:0002825
43 hyperplasia of the femoral trochanters 32 HP:0002822
44 flared femoral metaphysis 32 HP:0002834
45 flared humeral metaphysis 32 HP:0003911

Drugs & Therapeutics for Metatropic Dysplasia

Search Clinical Trials , NIH Clinical Center for Metatropic Dysplasia

Genetic Tests for Metatropic Dysplasia

Anatomical Context for Metatropic Dysplasia

MalaCards organs/tissues related to Metatropic Dysplasia:

41
Bone, Lung, Trachea

Publications for Metatropic Dysplasia

Articles related to Metatropic Dysplasia:

(show all 29)
# Title Authors Year
1
Metatropic dysplasia-a skeletal dysplasia with challenging airway and other anesthetic concerns. ( 28321993 )
2017
2
Metatropic dysplasia in third trimester of pregnancy and a novel causative variant in the TRPV4 gene. ( 28414187 )
2017
3
Metatropic Dysplasia with a Novel Mutation in TRPV4. ( 27567651 )
2016
4
Somatic mosaicism for a lethal TRPV4 mutation results in non-lethal metatropic dysplasia. ( 27530454 )
2016
5
Metatropic dysplasia is associated with increased fracture risk. ( 26823048 )
2016
6
A mutation in TRPV4 results in altered chondrocyte calcium signaling in severe metatropic dysplasia. ( 26249260 )
2015
7
[Metatropic dysplasia in a girl with c.1811_1812delinsAT mutation in exon 11 of the TRPV4 gene not previously reported]. ( 25622169 )
2015
8
A case of metatropic dysplasia: operative treatment of severe kyphoscoliosis and limb deformities. ( 24223250 )
2013
9
Prenatal diagnosis of metatropic dysplasia: beware of the pseudo-bowing sign. ( 24121766 )
2013
10
Metatropic dysplasia in four-year-old boy--physiotherapy and orthopaedic care problems--case report. ( 22764341 )
2012
11
Fetal akinesia in metatropic dysplasia: The combined phenotype of chondrodysplasia and neuropathy? ( 21964829 )
2011
12
Dominant TRPV4 mutations in nonlethal and lethal metatropic dysplasia. ( 20425821 )
2010
13
Mutations in the gene encoding the calcium-permeable ion channel TRPV4 produce spondylometaphyseal dysplasia, Kozlowski type and metatropic dysplasia. ( 19232556 )
2009
14
Metatropic dysplasia. ( 18245944 )
2008
15
Metatropic dysplasia in children. ( 18285743 )
2008
16
Revisiting metatropic dysplasia: presentation of a series of 19 novel patients and review of the literature. ( 18348257 )
2008
17
Lethal metatropic dysplasia: a case report. ( 17365839 )
2007
18
Metatropic dysplasia: clinical and radiographic findings in 11 patients demonstrating long-term natural history. ( 17879966 )
2007
19
Operative treatment of bilateral hip dislocations in a child with metatropic dysplasia. ( 17273034 )
2007
20
Cervical spinal stenosis in metatropic dysplasia. ( 16670547 )
2006
21
Long-term follow-up in a patient with metatropic dysplasia. ( 15889420 )
2005
22
Metatropic dysplasia lethal variants. ( 14566438 )
2004
23
A distinct subtype of &amp;quot;metatropic dysplasia variant&amp;quot; characterised by advanced carpal skeletal age and subluxation of the radial heads. ( 9472061 )
1998
24
Morphologic observations in a case of lethal variant (type I) metatropic dysplasia with atypical features: morphology of lethal metatropic dysplasia. ( 10507892 )
1998
25
Metatropic dysplasia: a case report. ( 7779195 )
1995
26
Odontoid hypoplasia with vertebral cervical subluxation and ventriculomegaly in metatropic dysplasia. ( 2915283 )
1989
27
Metatropic dysplasia and its variants (analysis of 14 cases). ( 3202745 )
1988
28
[Metatropic dysplasia: a new case]. ( 3662255 )
1987
29
Heterogeneity of metatropic dysplasia. ( 6628444 )
1983

Variations for Metatropic Dysplasia

UniProtKB/Swiss-Prot genetic disease variations for Metatropic Dysplasia:

75 (show all 17)
# Symbol AA change Variation ID SNP ID
1 TRPV4 p.Ile331Phe VAR_062331 rs121912636
2 TRPV4 p.Pro799Leu VAR_062335 rs121912637
3 TRPV4 p.Thr89Ile VAR_064517 rs397514473
4 TRPV4 p.Lys197Arg VAR_064519 rs387906903
5 TRPV4 p.Leu199Phe VAR_064520 rs515726167
6 TRPV4 p.Thr295Ala VAR_064522 rs515726171
7 TRPV4 p.Ile331Thr VAR_064523 rs515726172
8 TRPV4 p.Val342Phe VAR_064524 rs515726152
9 TRPV4 p.Phe592Leu VAR_064526 rs515726158
10 TRPV4 p.Ile604Met VAR_064530 rs515726161
11 TRPV4 p.Phe617Leu VAR_064531 rs515726162
12 TRPV4 p.Leu618Pro VAR_064532 rs515726163
13 TRPV4 p.Arg775Lys VAR_064535
14 TRPV4 p.Glu797Lys VAR_064537 rs267607149
15 TRPV4 p.Pro799Ala VAR_064538 rs267607147
16 TRPV4 p.Pro799Arg VAR_064539 rs121912637
17 TRPV4 p.Pro799Ser VAR_064540 rs267607147

ClinVar genetic disease variations for Metatropic Dysplasia:

6
(show top 50) (show all 141)
# Gene Variation Type Significance SNP ID Assembly Location
1 TRPV4 NM_021625.4(TRPV4): c.991A> T (p.Ile331Phe) single nucleotide variant Pathogenic rs121912636 GRCh37 Chromosome 12, 110236580: 110236580
2 TRPV4 NM_021625.4(TRPV4): c.991A> T (p.Ile331Phe) single nucleotide variant Pathogenic rs121912636 GRCh38 Chromosome 12, 109798775: 109798775
3 TRPV4 NM_021625.4(TRPV4): c.2396C> T (p.Pro799Leu) single nucleotide variant Pathogenic rs121912637 GRCh37 Chromosome 12, 110222183: 110222183
4 TRPV4 NM_021625.4(TRPV4): c.2396C> T (p.Pro799Leu) single nucleotide variant Pathogenic rs121912637 GRCh38 Chromosome 12, 109784378: 109784378
5 TRPV4 NM_021625.4(TRPV4): c.2395C> G (p.Pro799Ala) single nucleotide variant Pathogenic rs267607147 GRCh37 Chromosome 12, 110222184: 110222184
6 TRPV4 NM_021625.4(TRPV4): c.2395C> G (p.Pro799Ala) single nucleotide variant Pathogenic rs267607147 GRCh38 Chromosome 12, 109784379: 109784379
7 TRPV4 NM_021625.4(TRPV4): c.2395C> T (p.Pro799Ser) single nucleotide variant Pathogenic rs267607147 GRCh37 Chromosome 12, 110222184: 110222184
8 TRPV4 NM_021625.4(TRPV4): c.2395C> T (p.Pro799Ser) single nucleotide variant Pathogenic rs267607147 GRCh38 Chromosome 12, 109784379: 109784379
9 TRPV4 NM_021625.4(TRPV4): c.2396C> G (p.Pro799Arg) single nucleotide variant Pathogenic rs121912637 GRCh37 Chromosome 12, 110222183: 110222183
10 TRPV4 NM_021625.4(TRPV4): c.2396C> G (p.Pro799Arg) single nucleotide variant Pathogenic rs121912637 GRCh38 Chromosome 12, 109784378: 109784378
11 TRPV4 TRPV4, 3-BP DEL, 1411TTC deletion Pathogenic
12 TRPV4 NM_021625.4(TRPV4): c.2389G> A (p.Glu797Lys) single nucleotide variant Pathogenic rs267607149 GRCh37 Chromosome 12, 110222190: 110222190
13 TRPV4 NM_021625.4(TRPV4): c.2389G> A (p.Glu797Lys) single nucleotide variant Pathogenic rs267607149 GRCh38 Chromosome 12, 109784385: 109784385
14 TRPV4 NM_021625.4(TRPV4): c.266C> T (p.Thr89Ile) single nucleotide variant Pathogenic rs397514473 GRCh37 Chromosome 12, 110252336: 110252336
15 TRPV4 NM_021625.4(TRPV4): c.266C> T (p.Thr89Ile) single nucleotide variant Pathogenic rs397514473 GRCh38 Chromosome 12, 109814531: 109814531
16 TRPV4 NM_021625.4(TRPV4): c.590A> G (p.Lys197Arg) single nucleotide variant Pathogenic rs387906903 GRCh37 Chromosome 12, 110240918: 110240918
17 TRPV4 NM_021625.4(TRPV4): c.590A> G (p.Lys197Arg) single nucleotide variant Pathogenic rs387906903 GRCh38 Chromosome 12, 109803113: 109803113
18 TRPV4 NM_021625.4(TRPV4): c.232G> T (p.Gly78Trp) single nucleotide variant Pathogenic rs397514474 GRCh37 Chromosome 12, 110252370: 110252370
19 TRPV4 NM_021625.4(TRPV4): c.232G> T (p.Gly78Trp) single nucleotide variant Pathogenic rs397514474 GRCh38 Chromosome 12, 109814565: 109814565
20 TRPV4 NM_021625.4(TRPV4): c.2219C> T (p.Thr740Ile) single nucleotide variant Pathogenic rs387906906 GRCh37 Chromosome 12, 110224632: 110224632
21 TRPV4 NM_021625.4(TRPV4): c.2219C> T (p.Thr740Ile) single nucleotide variant Pathogenic rs387906906 GRCh38 Chromosome 12, 109786827: 109786827
22 TRPV4 NM_021625.4(TRPV4): c.826A> G (p.Lys276Glu) single nucleotide variant Pathogenic rs387906907 GRCh37 Chromosome 12, 110238450: 110238450
23 TRPV4 NM_021625.4(TRPV4): c.826A> G (p.Lys276Glu) single nucleotide variant Pathogenic rs387906907 GRCh38 Chromosome 12, 109800645: 109800645
24 TRPV4 NM_021625.4(TRPV4): c.1684G> A (p.Val562Ile) single nucleotide variant Benign/Likely benign rs56177950 GRCh37 Chromosome 12, 110230597: 110230597
25 TRPV4 NM_021625.4(TRPV4): c.1684G> A (p.Val562Ile) single nucleotide variant Benign/Likely benign rs56177950 GRCh38 Chromosome 12, 109792792: 109792792
26 TRPV4 NM_021625.4(TRPV4): c.33G> T (p.Gly11=) single nucleotide variant Benign/Likely benign rs56092423 GRCh37 Chromosome 12, 110252569: 110252569
27 TRPV4 NM_021625.4(TRPV4): c.33G> T (p.Gly11=) single nucleotide variant Benign/Likely benign rs56092423 GRCh38 Chromosome 12, 109814764: 109814764
28 TRPV4 NM_021625.4(TRPV4): c.854-4G> A single nucleotide variant Conflicting interpretations of pathogenicity rs371733585 GRCh37 Chromosome 12, 110236721: 110236721
29 TRPV4 NM_021625.4(TRPV4): c.854-4G> A single nucleotide variant Conflicting interpretations of pathogenicity rs371733585 GRCh38 Chromosome 12, 109798916: 109798916
30 TRPV4 NM_021625.4(TRPV4): c.2605G> A (p.Ala869Thr) single nucleotide variant Uncertain significance rs138396764 GRCh38 Chromosome 12, 109783632: 109783632
31 TRPV4 NM_021625.4(TRPV4): c.2605G> A (p.Ala869Thr) single nucleotide variant Uncertain significance rs138396764 GRCh37 Chromosome 12, 110221437: 110221437
32 TRPV4 NM_021625.4(TRPV4): c.2498A> G (p.Asn833Ser) single nucleotide variant Benign/Likely benign rs116035946 GRCh38 Chromosome 12, 109783739: 109783739
33 TRPV4 NM_021625.4(TRPV4): c.2498A> G (p.Asn833Ser) single nucleotide variant Benign/Likely benign rs116035946 GRCh37 Chromosome 12, 110221544: 110221544
34 TRPV4 NM_021625.4(TRPV4): c.2248G> A (p.Val750Ile) single nucleotide variant Likely benign rs148171058 GRCh38 Chromosome 12, 109786798: 109786798
35 TRPV4 NM_021625.4(TRPV4): c.2248G> A (p.Val750Ile) single nucleotide variant Likely benign rs148171058 GRCh37 Chromosome 12, 110224603: 110224603
36 TRPV4 NM_021625.4(TRPV4): c.1546A> G (p.Ile516Val) single nucleotide variant Likely benign rs115976458 GRCh38 Chromosome 12, 109793968: 109793968
37 TRPV4 NM_021625.4(TRPV4): c.1546A> G (p.Ile516Val) single nucleotide variant Likely benign rs115976458 GRCh37 Chromosome 12, 110231773: 110231773
38 TRPV4 NM_021625.4(TRPV4): c.1308C> T (p.Ile436=) single nucleotide variant Benign/Likely benign rs141244183 GRCh38 Chromosome 12, 109796549: 109796549
39 TRPV4 NM_021625.4(TRPV4): c.1308C> T (p.Ile436=) single nucleotide variant Benign/Likely benign rs141244183 GRCh37 Chromosome 12, 110234354: 110234354
40 TRPV4 NM_021625.4(TRPV4): c.769C> G (p.Leu257Val) single nucleotide variant Conflicting interpretations of pathogenicity rs56217500 GRCh38 Chromosome 12, 109800702: 109800702
41 TRPV4 NM_021625.4(TRPV4): c.769C> G (p.Leu257Val) single nucleotide variant Conflicting interpretations of pathogenicity rs56217500 GRCh37 Chromosome 12, 110238507: 110238507
42 TRPV4 NM_021625.4(TRPV4): c.712+10C> T single nucleotide variant Likely benign rs115657305 GRCh38 Chromosome 12, 109802981: 109802981
43 TRPV4 NM_021625.4(TRPV4): c.712+10C> T single nucleotide variant Likely benign rs115657305 GRCh37 Chromosome 12, 110240786: 110240786
44 TRPV4 NM_021625.4(TRPV4): c.152C> T (p.Pro51Leu) single nucleotide variant Benign/Likely benign rs115861965 GRCh37 Chromosome 12, 110252450: 110252450
45 TRPV4 NM_021625.4(TRPV4): c.152C> T (p.Pro51Leu) single nucleotide variant Benign/Likely benign rs115861965 GRCh38 Chromosome 12, 109814645: 109814645
46 TRPV4 NM_021625.4(TRPV4): c.2433G> C (p.Ser811=) single nucleotide variant Benign/Likely benign rs34071623 GRCh38 Chromosome 12, 109784341: 109784341
47 TRPV4 NM_021625.4(TRPV4): c.2433G> C (p.Ser811=) single nucleotide variant Benign/Likely benign rs34071623 GRCh37 Chromosome 12, 110222146: 110222146
48 TRPV4 NM_021625.4(TRPV4): c.810G> A (p.Gly270=) single nucleotide variant Benign/Likely benign rs147558344 GRCh38 Chromosome 12, 109800661: 109800661
49 TRPV4 NM_021625.4(TRPV4): c.810G> A (p.Gly270=) single nucleotide variant Benign/Likely benign rs147558344 GRCh37 Chromosome 12, 110238466: 110238466
50 TRPV4 NM_021625.4(TRPV4): c.1713C> G (p.Ile571Met) single nucleotide variant Benign rs185933892 GRCh38 Chromosome 12, 109792763: 109792763

Expression for Metatropic Dysplasia

Search GEO for disease gene expression data for Metatropic Dysplasia.

Pathways for Metatropic Dysplasia

GO Terms for Metatropic Dysplasia

Sources for Metatropic Dysplasia

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