PKDYS1
MCID: PRK101
MIFTS: 35

Parkinsonism-Dystonia, Infantile, 1 (PKDYS1)

Categories: Gastrointestinal diseases, Genetic diseases, Metabolic diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Parkinsonism-Dystonia, Infantile, 1

MalaCards integrated aliases for Parkinsonism-Dystonia, Infantile, 1:

Name: Parkinsonism-Dystonia, Infantile, 1 57
Pkdys 57 53 25 59 74
Dopamine Transporter Deficiency Syndrome 57 53 25 74
Infantile Parkinsonism-Dystonia 53 25 29 6
Dtds 57 53 25 74
Parkinsonism-Dystonia, Infantile 25 13 40
Parkinsonism-Dystonia Infantile 53 74
Slc6a3-Related Dopamine Transporter Deficiency Syndrome 53
Dopamine Transporter Deficiency Syndrome; Dtds 57
Infantile Dystonia-Parkinsonism 59
Dystonia-Parkinsonism Infantile 74
Dat Deficiency 53
Pkdys1 57
Ipd 59

Characteristics:

Orphanet epidemiological data:

59
infantile dystonia-parkinsonism
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

OMIM:

57
Inheritance:
autosomal recessive

Miscellaneous:
progressive disorder
onset in early infancy
decreased life expectancy
death often in the teenage years
poor response to l-dopa


HPO:

32
parkinsonism-dystonia, infantile, 1:
Inheritance autosomal recessive inheritance
Onset and clinical course infantile onset progressive


Classifications:

Orphanet: 59  
Rare neurological diseases


External Ids:

UMLS via Orphanet 73 C2751067
Orphanet 59 ORPHA238455

Summaries for Parkinsonism-Dystonia, Infantile, 1

NIH Rare Diseases : 53 Dopamine transporter deficiency syndrome (DTDS) is a rare movement disorder that causes progressive (worsening) dystonia and parkinsonism. It usually begins in infancy ('classic DTDS') and for this reason, it is also known as 'infantile parkinsonism dystonia.' However, some people with DTDS may not develop symptoms until childhood or later (which is known as 'atypical DTDS'). The dystonia in DTDS is characterized by uncontrollable (involuntary), long-lasting muscle contractions and cramps that involve many different muscles. Dystonia causes difficulty with daily activities and impairs the ability to talk, eat, drink, pick up objects, and walk. Parkinsonism develops as the disorder progresses and is characterized by tremor (shaking), slowed movements (bradykinesia), rigidity (stiffness), and impaired balance and coordination. Additional symptoms that may be present include abnormal eye movements, reduced facial expressions, irritability, sleeping problems, digestive problems (such as reflux or constipation), and recurrent pneumonia which can be life-threatening. Classic DTDS is associated with a poor outlook (prognosis), and death may occur in the teenage years due to unexplained sudden causes or respiratory complications. Those with atypical DTDS may have milder symptoms and a longer lifespan, but the long-term outlook for this form is not well-known. DTDS is caused by mutations in the SLC6A3 gene and inheritance is autosomal recessive. There is no cure for DTDS; treatment aims to relieve symptoms and increase quality of life. Treatment may include medicines to control involuntary movements (such as tetrabenazine and benzodiazepines), medicines to control dystonia (such as pramipexole and ropinirole), and physical therapy to reduce the risk of contractures from muscle rigidity.

MalaCards based summary : Parkinsonism-Dystonia, Infantile, 1, also known as pkdys, is related to slc6a3-related dopamine transporter deficiency syndrome and diastrophic dysplasia. An important gene associated with Parkinsonism-Dystonia, Infantile, 1 is SLC6A3 (Solute Carrier Family 6 Member 3). Affiliated tissues include eye, and related phenotypes are parkinsonism and constipation

Genetics Home Reference : 25 Dopamine transporter deficiency syndrome is a rare movement disorder. The condition is also known as infantile parkinsonism-dystonia because the problems with movement (dystonia and parkinsonism, described below) usually start in infancy and worsen over time. However, the features of the condition sometimes do not appear until childhood or later. People with dopamine transporter deficiency syndrome develop a pattern of involuntary, sustained muscle contractions known as dystonia. The dystonia is widespread (generalized), affecting many different muscles. The continuous muscle cramping and spasms cause difficulty with basic activities, including speaking, eating, drinking, picking up objects, and walking. As the condition worsens, affected individuals develop parkinsonism, which is a group of movement abnormalities including tremors, unusually slow movement (bradykinesia), rigidity, and an inability to hold the body upright and balanced (postural instability). Other signs and symptoms that can develop include abnormal eye movements; reduced facial expression (hypomimia); disturbed sleep; frequent episodes of pneumonia; and problems with the digestive system, including a backflow of acidic stomach contents into the esophagus (gastroesophageal reflux) and constipation. People with dopamine transporter deficiency syndrome may have a shortened lifespan, although the long-term effects of this condition are not fully understood. Children with this condition have died from pneumonia and breathing problems. When the first signs and symptoms appear later in life, affected individuals may survive into adulthood.

OMIM : 57 Infantile parkinsonism-dystonia, also known as dopamine transporter deficiency syndrome (DTDS), is an autosomal recessive complex motor neurologic disorder with onset in infancy. Affected individuals show hyperkinesia with orolingual and limb dyskinesia, dystonia, and chorea, or hypokinesia with parkinsonian features, such as bradykinesia, rigidity, and tremor. Other features may include axial hypotonia, pyramidal tract signs, and eye movement abnormalities. Many patients are misdiagnosed as having cerebral palsy. Cognitive function appears to be less severely affected, but most patients die in the teenage years. There is no effective treatment. Laboratory studies show an increased ratio of homovanillic acid (HVA) to 5-hydroxyindoleacetic acid (5-HIAA) in cerebrospinal fluid (CSF), which represents an increased ratio of dopamine to serotonin metabolites (review by Kurian et al., 2011). (613135)

UniProtKB/Swiss-Prot : 74 Parkinsonism-dystonia infantile: A neurodegenerative disorder characterized by infantile onset of parkinsonism and dystonia. Other neurologic features include global developmental delay, bradykinesia and pyramidal tract signs.

Wikipedia : 75 Dopamine transporter deficiency syndrome (DTDS), also known as infantile parkinsonism-dystonia, is a... more...

Related Diseases for Parkinsonism-Dystonia, Infantile, 1

Diseases in the Parkinsonism-Dystonia, Infantile, 1 family:

Parkinsonism-Dystonia, Infantile, 2

Diseases related to Parkinsonism-Dystonia, Infantile, 1 via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 91)
# Related Disease Score Top Affiliating Genes
1 slc6a3-related dopamine transporter deficiency syndrome 12.6
2 diastrophic dysplasia 12.3
3 invasive pneumococcal disease, recurrent isolated, 1 12.1
4 invasive pneumococcal disease, recurrent isolated, 2 11.6
5 segawa syndrome, autosomal recessive 11.4
6 parkinsonism-dystonia, infantile, 2 11.3
7 personality disorder 10.4
8 peritonitis 10.4
9 post-traumatic stress disorder 10.3
10 acute stress disorder 10.3
11 avoidant personality disorder 10.3
12 attention deficit-hyperactivity disorder 10.3
13 separation anxiety disorder 10.3
14 generalized anxiety disorder 10.3
15 mitral valve stenosis 10.3
16 panic disorder 10.3
17 parkinson disease, late-onset 10.2
18 dystonia 10.2
19 dermatitis 10.2
20 kidney disease 10.2
21 spinal stenosis 10.2
22 meningitis 10.2
23 psychogenic movement 10.2
24 pneumococcal meningitis 10.2
25 autosomal recessive disease 10.1
26 odontochondrodysplasia 10.1
27 atelosteogenesis, type ii 10.1
28 achondrogenesis, type ib 10.1
29 fibrosarcoma 10.1
30 multiple epiphyseal dysplasia, recessive 10.1
31 bipolar disorder 10.1
32 bladder cancer 10.1
33 body mass index quantitative trait locus 1 10.1
34 allergic rhinitis 10.1
35 pre-eclampsia 10.1
36 eclampsia 10.1
37 contact dermatitis 10.1
38 rhinitis 10.1
39 hypereosinophilic syndrome 10.1
40 cerebral palsy 10.0
41 hypotonia 10.0
42 alcohol dependence 9.9
43 exudative vitreoretinopathy 1 9.9
44 otitis media 9.9
45 polydactyly, preaxial i 9.9
46 schistosoma mansoni infection, susceptibility/ 9.9
47 vitiligo-associated multiple autoimmune disease susceptibility 6 9.9
48 enterocolitis 9.9
49 proteasome-associated autoinflammatory syndrome 1 9.9
50 yemenite deaf-blind hypopigmentation syndrome 9.9

Graphical network of the top 20 diseases related to Parkinsonism-Dystonia, Infantile, 1:



Diseases related to Parkinsonism-Dystonia, Infantile, 1

Symptoms & Phenotypes for Parkinsonism-Dystonia, Infantile, 1

Human phenotypes related to Parkinsonism-Dystonia, Infantile, 1:

59 32 (show all 28)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 parkinsonism 59 32 hallmark (90%) Very frequent (99-80%) HP:0001300
2 constipation 59 32 frequent (33%) Frequent (79-30%) HP:0002019
3 chorea 59 32 frequent (33%) Frequent (79-30%) HP:0002072
4 abnormal pyramidal sign 59 32 frequent (33%) Frequent (79-30%) HP:0007256
5 global developmental delay 59 32 frequent (33%) Frequent (79-30%) HP:0001263
6 gastroesophageal reflux 59 32 frequent (33%) Frequent (79-30%) HP:0002020
7 hypomimic face 59 32 frequent (33%) Frequent (79-30%) HP:0000338
8 feeding difficulties 59 32 frequent (33%) Frequent (79-30%) HP:0011968
9 irritability 59 32 frequent (33%) Frequent (79-30%) HP:0000737
10 absent speech 59 32 frequent (33%) Frequent (79-30%) HP:0001344
11 cerebral palsy 59 32 frequent (33%) Frequent (79-30%) HP:0100021
12 bradykinesia 59 32 frequent (33%) Frequent (79-30%) HP:0002067
13 hypokinesia 59 32 frequent (33%) Frequent (79-30%) HP:0002375
14 oculogyric crisis 59 32 frequent (33%) Frequent (79-30%) HP:0010553
15 muscular hypotonia of the trunk 59 32 frequent (33%) Frequent (79-30%) HP:0008936
16 orofacial dyskinesia 59 32 frequent (33%) Frequent (79-30%) HP:0002310
17 limb hypertonia 59 32 frequent (33%) Frequent (79-30%) HP:0002509
18 abnormal circulating carboxylic acid concentration 32 frequent (33%) HP:0004354
19 hypertonia 59 32 Frequent (79-30%) HP:0001276
20 tremor 32 HP:0001337
21 dyskinesia 32 HP:0100660
22 dystonia 59 Very frequent (99-80%)
23 rigidity 32 HP:0002063
24 delayed gross motor development 32 HP:0002194
25 limb dystonia 32 HP:0002451
26 abnormality of carboxylic acid metabolism 59 Frequent (79-30%)
27 morphological abnormality of the pyramidal tract 32 HP:0002062
28 ocular flutter 32 HP:0031931

Symptoms via clinical synopsis from OMIM:

57
Neurologic Central Nervous System:
tremor
chorea
dyskinesia
dystonia
rigidity
more
Head And Neck Eyes:
ocular flutter
oculogyric crises
eye movement disorder

Head And Neck Mouth:
orolingual dyskinesia

Abdomen Gastrointestinal:
constipation
gastroesophageal reflux
feeding difficulties

Head And Neck Face:
masked facies

Laboratory Abnormalities:
increased csf homovanillic acid (hva)
normal csf 5-hydroxyindoleacetic acid (5-hiaa)

Clinical features from OMIM:

613135

Drugs & Therapeutics for Parkinsonism-Dystonia, Infantile, 1

Search Clinical Trials , NIH Clinical Center for Parkinsonism-Dystonia, Infantile, 1

Genetic Tests for Parkinsonism-Dystonia, Infantile, 1

Genetic tests related to Parkinsonism-Dystonia, Infantile, 1:

# Genetic test Affiliating Genes
1 Infantile Parkinsonism-Dystonia 29 SLC6A3

Anatomical Context for Parkinsonism-Dystonia, Infantile, 1

MalaCards organs/tissues related to Parkinsonism-Dystonia, Infantile, 1:

41
Eye

Publications for Parkinsonism-Dystonia, Infantile, 1

Articles related to Parkinsonism-Dystonia, Infantile, 1:

# Title Authors PMID Year
1
Homozygous loss-of-function mutations in the gene encoding the dopamine transporter are associated with infantile parkinsonism-dystonia. 38 8 71
19478460 2009
2
Genetic mapping and exome sequencing identify variants associated with five novel diseases. 8 71
22279524 2012
3
Clinical and molecular characterisation of hereditary dopamine transporter deficiency syndrome: an observational cohort and experimental study. 8 71
21112253 2011
4
SLC6A3-Related Dopamine Transporter Deficiency Syndrome 71
28749637 2017
5
The monoamine neurotransmitter disorders: an expanding range of neurological syndromes. 8
21777827 2011
6
A specific subtype of infantile Parkinsonism-dystonia identified. 38
21261603 2011
7
Infantile parkinsonism-dystonia due to dopamine transporter gene mutations: another genetic twist. 38
21112252 2011
8
Infantile parkinsonism-dystonia: a dopamine "transportopathy". 38
19504720 2009
9
Infantile Parkinsonism-dystonia and elevated dopamine metabolites in CSF. 38
15159499 2004

Variations for Parkinsonism-Dystonia, Infantile, 1

ClinVar genetic disease variations for Parkinsonism-Dystonia, Infantile, 1:

6 (show top 50) (show all 56)
# Gene Variation Type Significance SNP ID GRCh37 Pos GRCh38 Pos
1 SLC6A3 NM_001044.5(SLC6A3): c.1103T> A (p.Leu368Gln) single nucleotide variant Pathogenic rs267607068 5:1414859-1414859 5:1414744-1414744
2 SLC6A3 NM_001044.5(SLC6A3): c.1184C> T (p.Pro395Leu) single nucleotide variant Pathogenic rs267607069 5:1411443-1411443 5:1411328-1411328
3 SLC6A3 NM_001044.5(SLC6A3): c.1269+1G> A single nucleotide variant Pathogenic rs431905504 5:1411357-1411357 5:1411242-1411242
4 SLC6A3 NM_001044.5(SLC6A3): c.671T> C (p.Leu224Pro) single nucleotide variant Pathogenic rs431905515 5:1422112-1422112 5:1421997-1421997
5 SLC6A3 NM_001044.5(SLC6A3): c.1561C> T (p.Arg521Trp) single nucleotide variant Pathogenic rs431905516 5:1406341-1406341 5:1406226-1406226
6 SLC6A3 NM_001044.5(SLC6A3): c.1031+1G> A single nucleotide variant Likely pathogenic rs431905514 5:1416212-1416212 5:1416097-1416097
7 SLC6A3 NM_001044.5(SLC6A3): c.1087G> A (p.Val363Ile) single nucleotide variant Uncertain significance rs750843353 5:1414875-1414875 5:1414760-1414760
8 SLC6A3 NM_001044.5(SLC6A3): c.605C> T (p.Ser202Leu) single nucleotide variant Uncertain significance rs149444784 5:1432627-1432627 5:1432512-1432512
9 SLC6A3 NM_001044.5(SLC6A3): c.605C> G (p.Ser202Trp) single nucleotide variant Uncertain significance rs149444784 5:1432627-1432627 5:1432512-1432512
10 SLC6A3 NM_001044.4(SLC6A3): c.1768-7_1768-6delCT deletion Uncertain significance rs781468421 5:1401107-1401108 5:1400992-1400993
11 SLC6A3 NM_001044.5(SLC6A3): c.1155C> T (p.Asp385=) single nucleotide variant Uncertain significance rs145114326 5:1414807-1414807 5:1414692-1414692
12 SLC6A3 NM_001044.5(SLC6A3): c.70G> A (p.Val24Met) single nucleotide variant Uncertain significance rs201800694 5:1443243-1443243 5:1443128-1443128
13 SLC6A3 NM_001044.5(SLC6A3): c.1728G> A (p.Ala576=) single nucleotide variant Uncertain significance rs769456530 5:1403076-1403076 5:1402961-1402961
14 SLC6A3 NM_001044.5(SLC6A3): c.499C> T (p.Leu167Phe) single nucleotide variant Uncertain significance rs71653633 5:1432733-1432733 5:1432618-1432618
15 SLC6A3 NM_001044.5(SLC6A3): c.114C> G (p.Asn38Lys) single nucleotide variant Uncertain significance rs6350 5:1443199-1443199 5:1443084-1443084
16 SLC6A3 NM_001044.5(SLC6A3): c.1843C> T (p.Arg615Cys) single nucleotide variant Uncertain significance rs763131939 5:1394870-1394870 5:1394755-1394755
17 SLC6A3 NM_001044.5(SLC6A3): c.1036G> A (p.Ala346Thr) single nucleotide variant Uncertain significance rs375720650 5:1414926-1414926 5:1414811-1414811
18 SLC6A3 NM_001044.5(SLC6A3): c.1676C> T (p.Ala559Val) single nucleotide variant Uncertain significance rs28364997 5:1403128-1403128 5:1403013-1403013
19 SLC6A3 NC_000005.9: g.(?_1394830)_(1394893_?)dup duplication Uncertain significance 5:1394830-1394893 5:1394715-1394778
20 SLC6A3 NM_001044.5(SLC6A3): c.1857G> C (p.Lys619Asn) single nucleotide variant Uncertain significance 5:1394856-1394856 5:1394741-1394741
21 SLC6A3 NM_001044.5(SLC6A3): c.1838C> T (p.Thr613Met) single nucleotide variant Uncertain significance 5:1401031-1401031 5:1400916-1400916
22 SLC6A3 NM_001044.5(SLC6A3): c.215C> T (p.Ser72Phe) single nucleotide variant Uncertain significance 5:1443098-1443098 5:1442983-1442983
23 SLC6A3 NM_001044.5(SLC6A3): c.77C> T (p.Pro26Leu) single nucleotide variant Uncertain significance 5:1443236-1443236 5:1443121-1443121
24 SLC6A3 NM_001044.5(SLC6A3): c.1067C> T (p.Thr356Met) single nucleotide variant Uncertain significance 5:1414895-1414895 5:1414780-1414780
25 SLC6A3 NM_001044.5(SLC6A3): c.1641C> G (p.His547Gln) single nucleotide variant Uncertain significance 5:1403163-1403163 5:1403048-1403048
26 SLC6A3 NM_001044.5(SLC6A3): c.1216G> A (p.Ala406Thr) single nucleotide variant Uncertain significance 5:1411411-1411411 5:1411296-1411296
27 SLC6A3 NM_001044.5(SLC6A3): c.1118A> G (p.Gln373Arg) single nucleotide variant Uncertain significance 5:1414844-1414844 5:1414729-1414729
28 SLC6A3 NM_001044.5(SLC6A3): c.661G> A (p.Val221Met) single nucleotide variant Uncertain significance 5:1422122-1422122 5:1422007-1422007
29 SLC6A3 NM_001044.5(SLC6A3): c.448C> G (p.Leu150Val) single nucleotide variant Uncertain significance 5:1432784-1432784 5:1432669-1432669
30 SLC6A3 NM_001044.5(SLC6A3): c.376G> C (p.Glu126Gln) single nucleotide variant Uncertain significance 5:1441516-1441516 5:1441401-1441401
31 SLC6A3 NM_001044.5(SLC6A3): c.285C> T (p.Gly95=) single nucleotide variant Uncertain significance 5:1443028-1443028 5:1442913-1442913
32 SLC6A3 NM_001044.5(SLC6A3): c.152G> A (p.Arg51Gln) single nucleotide variant Uncertain significance 5:1443161-1443161 5:1443046-1443046
33 SLC6A3 NM_001044.5(SLC6A3): c.34T> C (p.Ser12Pro) single nucleotide variant Uncertain significance 5:1443279-1443279 5:1443164-1443164
34 SLC6A3 NM_001044.5(SLC6A3): c.360C> T (p.Leu120=) single nucleotide variant Likely benign rs148447720 5:1441532-1441532 5:1441417-1441417
35 SLC6A3 NM_001044.5(SLC6A3): c.1080C> T (p.Ser360=) single nucleotide variant Likely benign rs142241083 5:1414882-1414882 5:1414767-1414767
36 SLC6A3 NM_001044.5(SLC6A3): c.1248C> T (p.Leu416=) single nucleotide variant Likely benign rs1553985998 5:1411379-1411379 5:1411264-1411264
37 SLC6A3 NM_001044.5(SLC6A3): c.1038G> A (p.Ala346=) single nucleotide variant Likely benign rs111362222 5:1414924-1414924 5:1414809-1414809
38 SLC6A3 NM_001044.5(SLC6A3): c.1644C> T (p.Tyr548=) single nucleotide variant Likely benign rs1264236301 5:1403160-1403160 5:1403045-1403045
39 SLC6A3 NM_001044.5(SLC6A3): c.1296C> T (p.Thr432=) single nucleotide variant Likely benign rs115254960 5:1409938-1409938 5:1409823-1409823
40 SLC6A3 NM_001044.5(SLC6A3): c.201C> T (p.Ile67=) single nucleotide variant Likely benign rs191426052 5:1443112-1443112 5:1442997-1442997
41 SLC6A3 NM_001044.5(SLC6A3): c.642C> T (p.Ala214=) single nucleotide variant Likely benign rs369766460 5:1432590-1432590 5:1432475-1432475
42 SLC6A3 NM_001044.5(SLC6A3): c.546C> T (p.Asn182=) single nucleotide variant Benign/Likely benign rs28364996 5:1432686-1432686 5:1432571-1432571
43 SLC6A3 NM_001044.5(SLC6A3): c.810C> T (p.Ala270=) single nucleotide variant Benign rs6348 5:1420801-1420801 5:1420686-1420686
44 SLC6A3 NM_001044.5(SLC6A3): c.60G> A (p.Glu20=) single nucleotide variant Benign rs115160598 5:1443253-1443253 5:1443138-1443138
45 SLC6A3 NM_001044.5(SLC6A3): c.1137C> T (p.Ile379=) single nucleotide variant Benign rs201605046 5:1414825-1414825 5:1414710-1414710
46 SLC6A3 NM_001044.5(SLC6A3): c.1035C> T (p.Asp345=) single nucleotide variant Benign rs369288905 5:1414927-1414927 5:1414812-1414812
47 SLC6A3 NM_001044.5(SLC6A3): c.1413C> G (p.Val471=) single nucleotide variant Benign rs8179035 5:1409226-1409226 5:1409111-1409111
48 SLC6A3 NM_001044.5(SLC6A3): c.150G> T (p.Pro50=) single nucleotide variant Benign rs6346 5:1443163-1443163 5:1443048-1443048
49 SLC6A3 NM_001044.5(SLC6A3): c.1527G> A (p.Gln509=) single nucleotide variant Benign rs6880875 5:1406375-1406375 5:1406260-1406260
50 SLC6A3 NM_001044.5(SLC6A3): c.1398C> T (p.Asn466=) single nucleotide variant Benign rs2270912 5:1409836-1409836 5:1409721-1409721

UniProtKB/Swiss-Prot genetic disease variations for Parkinsonism-Dystonia, Infantile, 1:

74
# Symbol AA change Variation ID SNP ID
1 SLC6A3 p.Leu368Gln VAR_063771 rs267607068
2 SLC6A3 p.Pro395Leu VAR_063772 rs267607069

Expression for Parkinsonism-Dystonia, Infantile, 1

Search GEO for disease gene expression data for Parkinsonism-Dystonia, Infantile, 1.

Pathways for Parkinsonism-Dystonia, Infantile, 1

GO Terms for Parkinsonism-Dystonia, Infantile, 1

Sources for Parkinsonism-Dystonia, Infantile, 1

3 CDC
7 CNVD
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10 dbSNP
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