MCID: BRC003
MIFTS: 38

Brachyolmia

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

Aliases & Classifications for Brachyolmia

MalaCards integrated aliases for Brachyolmia:

Name: Brachyolmia 12 53 59 37 6 15 40 72
Brachyrachia 12

Characteristics:

Orphanet epidemiological data:

59
brachyolmia
Inheritance: Autosomal dominant,Autosomal recessive; Age of onset: Childhood; Age of death: normal life expectancy;

Classifications:



External Ids:

Disease Ontology 12 DOID:0050690
KEGG 37 H00522
MESH via Orphanet 45 C537098
ICD10 via Orphanet 34 Q76.3
UMLS via Orphanet 73 C0432228
Orphanet 59 ORPHA1293
UMLS 72 C0432228

Summaries for Brachyolmia

NIH Rare Diseases : 53 The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.Orpha Number: 1293DefinitionBrachyolmia is a rare, clinically and genetically heterogeneous group of bone disorders characterized by short trunk, mild short stature, scoliosis and generalized platyspondyly without significant abnormalities in the long bones.EpidemiologyThe prevalence of brachyolmia is not known, but the disorder is probably under-recognized. Fewer than 100 cases have been reported to date. Cases have been reported in various ethnic groups. However, most cases with the Hobaek/Toledo type reported so far were of Turkish origin.Clinical descriptionFour types of brachyolmia have been described: autosomal recessive brachyolmia, Hobaek/Toledo type, autosomal recessive brachyolmia-amelogenesis imperfecta syndrome, autosomal dominant brachyolmia, and autosomal recessive brachyolmia, Maroteaux type (see these terms). The age of onset is generally in childhood with short stature becoming more evident with age. The clinical manifestations are generally mild to moderate, with minor physical functional repercussions. Some patients report non-specific back pain. The disorder is not associated with intellectual disability. AR brachyolmia, Hobaek/Toledo type is characterized by short-trunked short stature with platyspondyly and scoliosis. Corneal opacities and precocious calcification of costal cartilage occur in rare cases. In AR brachyolmia-amelogenesis imperfecta syndrome, short-trunked short stature is associated with platyspondyly and enamel abnormalities. AD brachyolmia is a more severe form with significant short-trunked short stature, platyspondyly and kyphoscoliosis. Lastly, presumably autosomal recessive brachyolmia, Maroteaux type is a vague entity that has not been well characterized but may involve short trunk/short stature, generalized platyspondyly and rounding vertebral bodies.EtiologyMutations in the PAPSS2 gene (10q24) have been found in patients with AR brachyolmia, Hobaek/Toledo type, and in the TRPV4 gene (12q24.1) in patients with AD brachyolmia. Precise pathogenesis is not well understood.Diagnostic methodsClinical and radiological findings are used to diagnose brachyolmia. Molecular genetic testing can also be used to confirm the diagnosis.Differential diagnosisThe differential diagnosis includes other genetic skeletal dysplasia syndromes, particularly mild spondyloepiphyseal dysplasia, including mild type 2 collagenopathy and mild Morquio disease (see this term).Antenatal diagnosisPrenatal diagnosis is available on molecular grounds, when a mutation (or mutations) was ascertained in a familial case.Genetic counselingBrachyolmia follows either an autosomal recessive or rarely an autosomal dominant pattern of inheritance. Genetic counseling based on the mode of inheritance should be provided to affected families.Management and treatmentNo specific treatment is currently available for this disease.PrognosisThe prognosis for patients with brachyolmia is generally very good.Visit the Orphanet disease page for more resources.

MalaCards based summary : Brachyolmia, also known as brachyrachia, is related to skeletal dysplasias and spondyloepiphyseal dysplasia with congenital joint dislocations. An important gene associated with Brachyolmia is TRPV4 (Transient Receptor Potential Cation Channel Subfamily V Member 4), and among its related pathways/superpathways is Elastic fibre formation. Affiliated tissues include bone and testes, and related phenotypes are short thorax and mild short stature

Disease Ontology : 12 An osteochondrodysplasia characterized by generalized platyspondyly without significant long bone abnormalities and short stature.

KEGG : 37
Brachyolmia (BCYM) is a heterogeneous group of skeletal dysplasias that primarily affects the spine. To date, four types of brachyolmia are known. Mutations in the TRPV4, a calcium-permeable nonselective cation channel, have been identified in an autosomal dominant form of brachyolmia (BCYM3). And it has been reported that PAPSS2 mutations cause autosomal recessive brachyolmia (BCRM4).

Related Diseases for Brachyolmia

Diseases in the Brachyolmia family:

Brachyolmia Type 3 Brachyolmia Type 2
Autosomal Recessive Brachyolmia

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

(show all 33)
# Related Disease Score Top Affiliating Genes
1 skeletal dysplasias 31.1 TRPV4 COL2A1
2 spondyloepiphyseal dysplasia with congenital joint dislocations 29.8 GALNS COL2A1
3 brachyolmia type 3 12.8
4 brachyolmia type 1, hobaek type 12.7
5 brachyolmia type 4 with mild epiphyseal and metaphyseal changes 12.7
6 brachyolmia type 2 12.7
7 autosomal recessive brachyolmia 12.4
8 brachyolmia type 1, toledo type 12.3
9 dental anomalies and short stature 12.3
10 spondyloepiphyseal dysplasia, maroteaux type 11.3
11 scoliosis 10.4
12 scapuloperoneal spinal muscular atrophy 10.3 TRPV4 MIR4497
13 familial avascular necrosis of the femoral head 10.3 TRPV4 COL2A1
14 dwarfism 10.3
15 amelogenesis imperfecta 10.2
16 achondrogenesis, type ii 10.2 TRPV4 COL2A1
17 hypochondrogenesis 10.2 TRPV4 COL2A1
18 strabismus 10.1
19 pyle disease 10.1
20 mucopolysaccharidosis-plus syndrome 10.1
21 brachydactyly 10.1
22 autosomal recessive disease 10.1
23 spinal stenosis 10.1
24 mechanical strabismus 10.1
25 trpv4-associated disorders 10.1
26 chronic pain 10.1
27 hypoplastic amelogenesis imperfecta 10.1
28 dyggve-melchior-clausen disease 10.1 PAPSS2 GALNS
29 morquio syndrome 10.0 TRPV4 GALNS
30 metaphyseal chondrodysplasia, jansen type 10.0 TRPV4 COL2A1
31 kniest dysplasia 9.8 TRPV4 GALNS COL2A1
32 spondyloepimetaphyseal dysplasia, matrilin-3 related 9.8 PAPSS2 GALNS COL2A1
33 spondyloepiphyseal dysplasia congenita 9.5 GALNS COL2A1

Graphical network of the top 20 diseases related to Brachyolmia:



Diseases related to Brachyolmia

Symptoms & Phenotypes for Brachyolmia

Human phenotypes related to Brachyolmia:

59 32
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 short thorax 59 32 hallmark (90%) Very frequent (99-80%) HP:0010306
2 mild short stature 59 32 hallmark (90%) Very frequent (99-80%) HP:0003502

MGI Mouse Phenotypes related to Brachyolmia:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 craniofacial MP:0005382 9.65 COL2A1 FST LTBP3 PAPSS2 WDR72
2 respiratory system MP:0005388 9.55 COL2A1 FST LTBP2 LTBP3 TRPV4
3 skeleton MP:0005390 9.43 COL2A1 FST GALNS LTBP3 PAPSS2 WDR72
4 vision/eye MP:0005391 9.1 COL2A1 FST GALNS LTBP2 LTBP3 TRPV4

Drugs & Therapeutics for Brachyolmia

Search Clinical Trials , NIH Clinical Center for Brachyolmia

Genetic Tests for Brachyolmia

Anatomical Context for Brachyolmia

MalaCards organs/tissues related to Brachyolmia:

41
Bone, Testes

Publications for Brachyolmia

Articles related to Brachyolmia:

(show all 49)
# Title Authors PMID Year
1
TRPV4 expresses in bone cell lineages and TRPV4-R616Q mutant causing Brachyolmia in human reveals "loss-of-interaction" with cholesterol. 38
31387748 2019
2
PAPSS2-related brachyolmia: Clinical and radiological phenotype in 18 new cases. 38
31313512 2019
3
Autosomal dominant brachyolmia: transient metaphyseal striations. 38
28601949 2017
4
Somatic mosaicism for a lethal TRPV4 mutation results in non-lethal metatropic dysplasia. 38
27530454 2016
5
Autosomal recessive brachyolmia: early radiological findings. 38
27544198 2016
6
Whole exome sequencing identified a novel COL2A1 mutation that causes mild Spondylo-epiphyseal dysplasia mimicking autosomal dominant brachyolmia. 38
26586363 2016
7
Mutations in the latent TGF-beta binding protein 3 (LTBP3) gene cause brachyolmia with amelogenesis imperfecta. 38
25669657 2015
8
Mice expressing mutant Trpv4 recapitulate the human TRPV4 disorders. 38
24644033 2014
9
Autosomal dominant brachyolmia in a large Swedish family: phenotypic spectrum and natural course. 38
24677493 2014
10
Follistatin in chondrocytes: the link between TRPV4 channelopathies and skeletal malformations. 38
24577120 2014
11
TRPV4-Associated Disorders 38
24830047 2014
12
Clinical and radiographic features of the autosomal recessive form of brachyolmia caused by PAPSS2 mutations. 38
23824674 2013
13
Human skeletal dysplasia caused by a constitutive activated transient receptor potential vanilloid 4 (TRPV4) cation channel mutation. 38
23143559 2012
14
A Novel Homozygous WDR72 Mutation in Two Siblings with Amelogenesis Imperfecta and Mild Short Stature. 38
23293580 2012
15
TRPV4-associated skeletal dysplasias. 38
22791502 2012
16
PAPSS2 mutations cause autosomal recessive brachyolmia. 38
22791835 2012
17
TRPV4-pathy manifesting both skeletal dysplasia and peripheral neuropathy: a report of three patients. 38
22419508 2012
18
The importance of conventional radiography in the mutational analysis of skeletal dysplasias (the TRPV4 mutational family). 38
21863289 2012
19
Fetal akinesia in metatropic dysplasia: The combined phenotype of chondrodysplasia and neuropathy? 38
21964829 2011
20
TRPV4 related skeletal dysplasias: a phenotypic spectrum highlighted byclinical, radiographic, and molecular studies in 21 new families. 38
21658220 2011
21
Transient receptor potential genes and human inherited disease. 38
21290338 2011
22
New phenotype with generalized platyspondyly, large mandible, hypoplastic teeth, strabismus, hyperopia and low cholesterol levels. 38
21848004 2011
23
Novel and recurrent TRPV4 mutations and their association with distinct phenotypes within the TRPV4 dysplasia family. 38
20577006 2010
24
The vanilloid transient receptor potential channel TRPV4: from structure to disease. 38
19835908 2010
25
Wild-type and brachyolmia-causing mutant TRPV4 channels respond directly to stretch force. 38
20605796 2010
26
TRPV4-pathy, a novel channelopathy affecting diverse systems. 38
20505684 2010
27
TRPV4-mediated channelopathies. 38
20676052 2010
28
Spondylo-epiphyseal dysplasia, Maroteaux type (pseudo-Morquio syndrome type 2), and parastremmatic dysplasia are caused by TRPV4 mutations. 38
20503319 2010
29
Mutations in the gene encoding the calcium-permeable ion channel TRPV4 produce spondylometaphyseal dysplasia, Kozlowski type and metatropic dysplasia. 38
19232556 2009
30
Brachyolmia with amelogenesis imperfecta: further evidence of a distinct entity. 38
19213025 2009
31
Gain-of-function mutations in TRPV4 cause autosomal dominant brachyolmia. 38
18587396 2008
32
Brachyolmia and spinal stenosis. 38
12833413 2003
33
Short trunk stature, brachydactyly, and platyspondyly in three sibs: a new form of brachyolmia or a new skeletal dysplasia? 38
12784309 2003
34
Two sibs with brachyolmia type Hobaek: five year follow-up through puberty. 38
12476457 2003
35
Familial brachyolmia. 38
10968486 2000
36
A case of brachyolmia. 38
9339123 1997
37
Toledo type brachyolmia. 38
8660094 1996
38
A new form of skeletal dysplasia with amelogenesis imperfecta and platyspondyly. 38
8721563 1996
39
Brachyolmia: a report of two cases. 38
7883917 1995
40
Toledo type brachyolmia. 38
7826119 1994
41
[Brachyolmia at autosomal recessive transmission]. 38
7951838 1994
42
Brachyolmia: an autosomal dominant form. 38
8209891 1994
43
Spondylar dysplasia (SD)/brachyolmia (BO), type I: search for qualitative anomalies in glycosaminoglycans (GAG) 38
1424247 1992
44
Brachyolmia: a skeletal dysplasia with an altered mucopolysaccharide excretion. 38
1836753 1991
45
[Autosome dominant vitreoretinal dystrophy with skeletal dysplasia in one generation]. 38
2056740 1991
46
Brachyolmia: radiographic and genetic evidence of heterogeneity. 38
2669482 1989
47
Brachyolmia, recessive type (Hobaek): a clinical, radiographic, and histochemical study. 38
6650565 1983
48
[Proceedings: Pure spondyloepiphyseal dysplasia or brachyolmia]. 38
811191 1975
49
Excretion of chondroitin sulfate C with low sulfate content by patients with generalized platyspondyly (brachyolmia). 38
4268486 1973

Variations for Brachyolmia

ClinVar genetic disease variations for Brachyolmia:

6 (show top 50) (show all 67)
# Gene Variation Type Significance SNP ID GRCh37 Pos GRCh38 Pos
1 PAPSS2 NM_001015880.2(PAPSS2): c.222C> G (p.Tyr74Ter) single nucleotide variant Likely pathogenic rs374379931 10:89472908-89472908 10:87713151-87713151
2 TRPV4 NM_021625.4(TRPV4): c.769C> G (p.Leu257Val) single nucleotide variant Conflicting interpretations of pathogenicity rs56217500 12:110238507-110238507 12:109800702-109800702
3 TRPV4 NM_021625.4(TRPV4): c.402C> A (p.Ser134Arg) single nucleotide variant Conflicting interpretations of pathogenicity rs201241092 12:110246258-110246258 12:109808453-109808453
4 TRPV4 NM_021625.4(TRPV4): c.1491+10C> T single nucleotide variant Conflicting interpretations of pathogenicity rs201815805 12:110232124-110232124 12:109794319-109794319
5 TRPV4 NM_021625.4(TRPV4): c.1093G> A (p.Val365Met) single nucleotide variant Conflicting interpretations of pathogenicity rs570675468 12:110236478-110236478 12:109798673-109798673
6 TRPV4 NM_021625.4(TRPV4): c.205A> C (p.Met69Leu) single nucleotide variant Conflicting interpretations of pathogenicity rs200199102 12:110252397-110252397 12:109814592-109814592
7 TRPV4 NM_021625.4(TRPV4): c.2236C> G (p.Arg746Gly) single nucleotide variant Uncertain significance rs375189134 12:110224615-110224615 12:109786810-109786810
8 TRPV4 NM_021625.4(TRPV4): c.1796C> G (p.Thr599Arg) single nucleotide variant Uncertain significance rs769225216 12:110230485-110230485 12:109792680-109792680
9 TRPV4 NM_021625.4(TRPV4): c.1601T> C (p.Met534Thr) single nucleotide variant Uncertain significance rs775011025 12:110231389-110231389 12:109793584-109793584
10 TRPV4 NM_021625.4(TRPV4): c.1390C> T (p.Arg464Cys) single nucleotide variant Uncertain significance rs373049874 12:110232235-110232235 12:109794430-109794430
11 TRPV4 NM_021625.4(TRPV4): c.1352C> T (p.Ala451Val) single nucleotide variant Uncertain significance rs886048940 12:110232273-110232273 12:109794468-109794468
12 TRPV4 NM_021625.4(TRPV4): c.1211G> A (p.Arg404His) single nucleotide variant Uncertain significance rs377257364 12:110234451-110234451 12:109796646-109796646
13 TRPV4 NM_021625.4(TRPV4): c.963C> A (p.Gly321=) single nucleotide variant Uncertain significance rs148534854 12:110236608-110236608 12:109798803-109798803
14 TRPV4 NM_021625.4(TRPV4): c.622G> A (p.Asp208Asn) single nucleotide variant Uncertain significance rs769445973 12:110240886-110240886 12:109803081-109803081
15 TRPV4 NM_021625.4(TRPV4): c.-74G> A single nucleotide variant Uncertain significance rs886048942 12:110271197-110271197 12:109833392-109833392
16 TRPV4 NM_021625.4(TRPV4): c.*405G> A single nucleotide variant Uncertain significance rs886048937 12:110221021-110221021 12:109783216-109783216
17 TRPV4 NM_021625.4(TRPV4): c.171T> C (p.Pro57=) single nucleotide variant Uncertain significance rs886048941 12:110252431-110252431 12:109814626-109814626
18 TRPV4 NM_021625.4(TRPV4): c.*212G> A single nucleotide variant Uncertain significance rs886048938 12:110221214-110221214 12:109783409-109783409
19 TRPV4 NM_021625.4(TRPV4): c.*99C> T single nucleotide variant Uncertain significance rs552478250 12:110221327-110221327 12:109783522-109783522
20 TRPV4 NM_021625.4(TRPV4): c.*51G> A single nucleotide variant Uncertain significance rs886048939 12:110221375-110221375 12:109783570-109783570
21 TRPV4 NM_021625.4(TRPV4): c.2605G> A (p.Ala869Thr) single nucleotide variant Uncertain significance rs138396764 12:110221437-110221437 12:109783632-109783632
22 TRPV4 NM_021625.4(TRPV4): c.2248G> A (p.Val750Ile) single nucleotide variant Likely benign rs148171058 12:110224603-110224603 12:109786798-109786798
23 TRPV4 NM_021625.4(TRPV4): c.1546A> G (p.Ile516Val) single nucleotide variant Likely benign rs115976458 12:110231773-110231773 12:109793968-109793968
24 TRPV4 NR_039718.1(MIR4497): n.66C> T single nucleotide variant Likely benign rs56079803 12:110271218-110271218 12:109833413-109833413
25 TRPV4 NM_021625.4(TRPV4): c.1825-15C> G single nucleotide variant Likely benign rs200602134 12:110230249-110230249 12:109792444-109792444
26 TRPV4 NM_021625.4(TRPV4): c.1455C> T (p.Phe485=) single nucleotide variant Likely benign rs189872222 12:110232170-110232170 12:109794365-109794365
27 TRPV4 NM_021625.4(TRPV4): c.650C> T (p.Ala217Val) single nucleotide variant Likely benign rs548909101 12:110240858-110240858 12:109803053-109803053
28 TRPV4 NM_021625.4(TRPV4): c.427C> A (p.Pro143Thr) single nucleotide variant Likely benign rs201642486 12:110246233-110246233 12:109808428-109808428
29 TRPV4 NM_021625.4(TRPV4): c.*423G> A single nucleotide variant Likely benign rs151286044 12:110221003-110221003 12:109783198-109783198
30 TRPV4 NM_021625.4(TRPV4): c.936G> A (p.Ala312=) single nucleotide variant Likely benign rs202084699 12:110236635-110236635 12:109798830-109798830
31 TRPV4 NM_021625.4(TRPV4): c.760G> A (p.Val254Met) single nucleotide variant Likely benign rs143548402 12:110238516-110238516 12:109800711-109800711
32 TRPV4 NM_021625.4(TRPV4): c.*365C> T single nucleotide variant Likely benign rs184413363 12:110221061-110221061 12:109783256-109783256
33 TRPV4 NM_021625.4(TRPV4): c.1584+13C> T single nucleotide variant Likely benign rs199712027 12:110231722-110231722 12:109793917-109793917
34 TRPV4 NM_021625.4(TRPV4): c.1825-15C> T single nucleotide variant Likely benign rs200602134 12:110230249-110230249 12:109792444-109792444
35 TRPV4 NM_021625.4(TRPV4): c.*486T> C single nucleotide variant Likely benign rs79157363 12:110220940-110220940 12:109783135-109783135
36 TRPV4 NM_021625.4(TRPV4): c.*378G> C single nucleotide variant Likely benign rs538255561 12:110221048-110221048 12:109783243-109783243
37 TRPV4 NM_021625.4(TRPV4): c.*230G> A single nucleotide variant Likely benign rs181542514 12:110221196-110221196 12:109783391-109783391
38 TRPV4 NM_021625.4(TRPV4): c.2517C> T (p.Asp839=) single nucleotide variant Likely benign rs546957932 12:110221525-110221525 12:109783720-109783720
39 TRPV4 NM_021625.4(TRPV4): c.2484C> T (p.Arg828=) single nucleotide variant Likely benign rs142656819 12:110221558-110221558 12:109783753-109783753
40 TRPV4 NM_021625.4(TRPV4): c.549G> A (p.Glu183=) single nucleotide variant Benign/Likely benign rs141908793 12:110246111-110246111 12:109808306-109808306
41 TRPV4 NM_021625.4(TRPV4): c.501C> T (p.Asp167=) single nucleotide variant Benign/Likely benign rs77680510 12:110246159-110246159 12:109808354-109808354
42 TRPV4 NM_021625.4(TRPV4): c.1539C> T (p.Gly513=) single nucleotide variant Benign/Likely benign rs141295418 12:110231780-110231780 12:109793975-109793975
43 TRPV4 NM_021625.4(TRPV4): c.1308C> T (p.Ile436=) single nucleotide variant Benign/Likely benign rs141244183 12:110234354-110234354 12:109796549-109796549
44 TRPV4 NM_021625.4(TRPV4): c.2498A> G (p.Asn833Ser) single nucleotide variant Benign/Likely benign rs116035946 12:110221544-110221544 12:109783739-109783739
45 TRPV4 NM_021625.4(TRPV4): c.1153-10C> T single nucleotide variant Benign/Likely benign rs149541389 12:110234519-110234519 12:109796714-109796714
46 TRPV4 NM_021625.4(TRPV4): c.2043C> T (p.Gly681=) single nucleotide variant Benign/Likely benign rs375633647 12:110226370-110226370 12:109788565-109788565
47 TRPV4 NM_021625.4(TRPV4): c.1824+4C> T single nucleotide variant Benign/Likely benign rs147259744 12:110230453-110230453 12:109792648-109792648
48 TRPV4 NM_021625.4(TRPV4): c.712+10C> T single nucleotide variant Benign/Likely benign rs115657305 12:110240786-110240786 12:109802981-109802981
49 TRPV4 NM_021625.4(TRPV4): c.152C> T (p.Pro51Leu) single nucleotide variant Benign/Likely benign rs115861965 12:110252450-110252450 12:109814645-109814645
50 TRPV4 NM_021625.4(TRPV4): c.2433G> C (p.Ser811=) single nucleotide variant Benign/Likely benign rs34071623 12:110222146-110222146 12:109784341-109784341

Expression for Brachyolmia

Search GEO for disease gene expression data for Brachyolmia.

Pathways for Brachyolmia

Pathways related to Brachyolmia according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
10.49 LTBP3 LTBP2

GO Terms for Brachyolmia

Cellular components related to Brachyolmia according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 extracellular matrix GO:0031012 8.62 LTBP2 COL2A1

Biological processes related to Brachyolmia according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 bone development GO:0060348 8.96 PAPSS2 COL2A1
2 cartilage development involved in endochondral bone morphogenesis GO:0060351 8.62 TRPV4 COL2A1

Molecular functions related to Brachyolmia according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 growth factor binding GO:0019838 8.62 LTBP3 LTBP2

Sources for Brachyolmia

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
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