TMD
MCID: TBL022
MIFTS: 35

Tibial Muscular Dystrophy, Tardive (TMD)

Categories: Genetic diseases, Muscle diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Tibial Muscular Dystrophy, Tardive

MalaCards integrated aliases for Tibial Muscular Dystrophy, Tardive:

Name: Tibial Muscular Dystrophy, Tardive 58 13 74
Udd Myopathy 58 60 76
Tmd 58 60 76
Tardive Tibial Muscular Dystrophy 58 76
Tibial Muscular Dystrophy 60 74
Finnish Tibial Muscular Dystrophy 60
Distal Myopathy, Udd Type 60
Distal Titinopathy 60

Characteristics:

Orphanet epidemiological data:

60
tibial muscular dystrophy
Inheritance: Autosomal dominant,Autosomal recessive; Prevalence: 1-9/100000 (Europe),1-5/10000 (Finland); Age of onset: Adult; Age of death: normal life expectancy;

OMIM:

58
Inheritance:
autosomal dominant

Miscellaneous:
incomplete penetrance
adult onset (after age 35 years)
slow progression without marked disability
cardiomyopathy is not a feature


HPO:

33
tibial muscular dystrophy, tardive:
Onset and clinical course adult onset incomplete penetrance slow progression
Inheritance autosomal dominant inheritance


Classifications:

Orphanet: 60  
Rare neurological diseases


External Ids:

OMIM 58 600334
MESH via Orphanet 46 C536815
ICD10 via Orphanet 35 G71.0
UMLS via Orphanet 75 C1450052 C1838244
Orphanet 60 ORPHA609
MedGen 43 C1838244

Summaries for Tibial Muscular Dystrophy, Tardive

UniProtKB/Swiss-Prot : 76 Tardive tibial muscular dystrophy: Autosomal dominant, late-onset distal myopathy. Muscle weakness and atrophy are usually confined to the anterior compartment of the lower leg, in particular the tibialis anterior muscle. Clinical symptoms usually occur at age 35-45 years or much later.

MalaCards based summary : Tibial Muscular Dystrophy, Tardive, also known as udd myopathy, is related to myeloproliferative syndrome, transient and tibial muscular dystrophy. An important gene associated with Tibial Muscular Dystrophy, Tardive is TTN (Titin). Affiliated tissues include myeloid, skeletal muscle and testes, and related phenotypes are emg: myopathic abnormalities and rimmed vacuoles

Description from OMIM: 600334

Related Diseases for Tibial Muscular Dystrophy, Tardive

Diseases related to Tibial Muscular Dystrophy, Tardive via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 52)
# Related Disease Score Top Affiliating Genes
1 myeloproliferative syndrome, transient 12.0
2 tibial muscular dystrophy 11.7
3 ring dermoid of cornea 10.7
4 headache 10.5
5 bruxism 10.4
6 whiplash 10.3
7 joint disorders 10.3
8 pain - chronic 10.3
9 depression 10.2
10 down syndrome 10.2
11 anxiety 10.2
12 muscular dystrophy, limb-girdle, autosomal recessive 10 10.0
13 miyoshi muscular dystrophy 10.0
14 myopathy 10.0
15 rheumatoid arthritis 10.0
16 leukemia 10.0
17 alexithymia 10.0
18 myeloid leukemia 10.0
19 hypermobile ehlers-danlos syndrome 10.0
20 platelet membrane fluidity 9.8
21 trigeminal neuralgia 9.8
22 sjogren syndrome 9.8
23 body mass index quantitative trait locus 11 9.8
24 leukemia, acute myeloid 9.8
25 body mass index quantitative trait locus 8 9.8
26 body mass index quantitative trait locus 1 9.8
27 body mass index quantitative trait locus 10 9.8
28 body mass index quantitative trait locus 7 9.8
29 body mass index quantitative trait locus 14 9.8
30 lung cancer susceptibility 3 9.8
31 myelodysplastic syndrome 9.8
32 body mass index quantitative trait locus 18 9.8
33 alacrima, achalasia, and mental retardation syndrome 9.8
34 body mass index quantitative trait locus 19 9.8
35 tendinitis 9.8
36 arthritis 9.8
37 muscle disorders 9.8
38 osteoarthritis 9.8
39 sinusitis 9.8
40 sleep apnea 9.8
41 lyme disease 9.8
42 acoustic neuroma 9.8
43 hypermobility syndrome 9.8
44 neuritis 9.8
45 melanoma 9.8
46 neuroma 9.8
47 adenocarcinoma 9.8
48 arthropathy 9.8
49 bone marrow cancer 9.8
50 fibromyalgia 9.8

Graphical network of the top 20 diseases related to Tibial Muscular Dystrophy, Tardive:



Diseases related to Tibial Muscular Dystrophy, Tardive

Symptoms & Phenotypes for Tibial Muscular Dystrophy, Tardive

Human phenotypes related to Tibial Muscular Dystrophy, Tardive:

60 33 (show all 20)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 emg: myopathic abnormalities 60 33 Frequent (79-30%) HP:0003458
2 rimmed vacuoles 60 33 Frequent (79-30%) HP:0003805
3 steppage gait 60 33 Frequent (79-30%) HP:0003376
4 myopathy 60 Frequent (79-30%)
5 cardiomyopathy 60 Excluded (0%)
6 proximal muscle weakness in lower limbs 60 Occasional (29-5%)
7 respiratory failure 60 Excluded (0%)
8 clumsiness 60 Occasional (29-5%)
9 difficulty walking 60 Frequent (79-30%)
10 mildly elevated creatine phosphokinase 60 Frequent (79-30%)
11 increased variability in muscle fiber diameter 60 Frequent (79-30%)
12 foot dorsiflexor weakness 60 Frequent (79-30%)
13 increased muscle lipid content 60 Frequent (79-30%)
14 peroneal muscle atrophy 60 Frequent (79-30%)
15 muscular dystrophy 33 HP:0003560
16 centrally nucleated skeletal muscle fibers 60 Frequent (79-30%)
17 quadriceps muscle weakness 60 Occasional (29-5%)
18 distal upper limb muscle weakness 60 Very rare (<4-1%)
19 weakness of long finger extensor muscles 60 Excluded (0%)
20 ankle weakness 60 Frequent (79-30%)

Symptoms via clinical synopsis from OMIM:

58
Muscle Soft Tissue:
'steppage' gait
weakness of the muscles in the anterior compartment of the lower leg (particularly the tibialis anterior muscle)
atrophy of the muscles in the anterior compartment of the lower leg
reduced ankle dorsiflexion
replacement of affected muscle tissue with fatty tissue
more

Clinical features from OMIM:

600334

Drugs & Therapeutics for Tibial Muscular Dystrophy, Tardive

Search Clinical Trials , NIH Clinical Center for Tibial Muscular Dystrophy, Tardive

Genetic Tests for Tibial Muscular Dystrophy, Tardive

Anatomical Context for Tibial Muscular Dystrophy, Tardive

MalaCards organs/tissues related to Tibial Muscular Dystrophy, Tardive:

42
Myeloid, Skeletal Muscle, Testes, Skin, Brain, Eye, Bone Marrow

Publications for Tibial Muscular Dystrophy, Tardive

Articles related to Tibial Muscular Dystrophy, Tardive:

(show top 50) (show all 683)
# Title Authors Year
1
Effectiveness of mobilisation of the upper cervical region and craniocervical flexor training on orofacial pain, mandibular function and headache in women with TMD. A randomised, controlled trial. ( 30307636 )
2019
2
Obesity, sedentarism and TMD-pain in adolescents. ( 30674069 )
2019
3
Management of pain in TMD patients: Bio-oxidative ozone therapy versus occlusal splints. ( 29065815 )
2019
4
Chronic stress and temporalis muscle activity in TMD patients and controls during sleep: a pilot study in females. ( 29744722 )
2019
5
Modeling drug-drug interactions of AZD1208 with Vincristine and Daunorubicin on ligand-extrusion binding TMD-domains of multidrug resistance P-glycoprotein (ABCB1). ( 30339824 )
2019
6
Prevalence of temporomandibular disorders (TMD) among Finnish prisoners: cross-sectional clinical study. ( 30430904 )
2019
7
Perceived helpfulness of treatments for myofascial TMD as a function of comorbid widespread pain. ( 30623307 )
2019
8
Centimeter-scale Green Integration of Layer-by-Layer 2D TMD vdW Heterostructures on Arbitrary Substrates by Water-Assisted Layer Transfer. ( 30733454 )
2019
9
Prevalence of TMD and level of chronic pain in a group of Brazilian adolescents. ( 30735506 )
2019
10
Modifications in Class I and Class II Div. 1 malocclusion during orthodontic treatment and their association with TMD problems. ( 30741126 )
2019
11
Jaw muscle activity patterns in women with chronic TMD myalgia during standardized clenching and chewing tasks. ( 30896353 )
2019
12
Discovery of small molecule binders of human FSHR(TMD) with novel structural scaffolds by integrating structural bioinformatics and machine learning algorithms. ( 30897497 )
2019
13
Relation of painful TMD with the speech function: What are the possible characteristics of mandibular movements and the main symptoms reported? ( 30942291 )
2019
14
Comparative assessment of condylar position in patients with temporomandibular disorder (TMD) and asymptomatic patients using cone-beam computed tomography. ( 30951623 )
2019
15
Patients' experiences of supervised jaw-neck exercise among patients with localized TMD pain or TMD pain associated with generalized pain. ( 30957601 )
2019
16
Anxiety and malocclusion are associated with temporomandibular disorders in adolescents diagnosed by RDC/TMD. A cross-sectional study. ( 29972708 )
2018
17
Low-dose cytarabine to prevent myeloid leukemia in children with Down syndrome: TMD Prevention 2007 study. ( 29959152 )
2018
18
CRNC4: Management of Spontaneous Dislocation and Headache Attributed to TMD Using Stabilization Splint: Case Report. ( 30532477 )
2018
19
Headache attributed to TMD Is Associated With the Presence of Comorbid Bodily Pain: A Case-Control Study. ( 30178880 )
2018
20
Is there a commonality of occlusion for dental, TMD and obstructive sleep apnea patients? Thoughts on a snowy day. ( 29480136 )
2018
21
Frequency of temporomandibular disorders diagnoses based on RDC/TMD in a Polish patient population. ( 28792365 )
2018
22
Reliability of mandibular movement assessments depending on TMD. ( 28502221 )
2018
23
The effect of supervised exercise on localized TMD pain and TMD pain associated with generalized pain. ( 28870137 )
2018
24
Analysis of somaclonal variation in transgenic and regenerated plants of Arabidopsis thaliana using methylation related metAFLP and TMD markers. ( 29038910 )
2018
25
Similar treatment outcome in myofascial TMD patients with localized and widespread pain. ( 29124991 )
2018
26
Non-specific effects and clusters of women with painful TMD responders and non-responders to LLLT: double-blind randomized clinical trial. ( 29209867 )
2018
27
Comparison of the outcomes of dynamic/static tests and palpation tests in TMD-pain patients. ( 29280180 )
2018
28
The role of occlusion in temporomandibular disorders (TMD) in the Northern Finland Birth Cohort (NFBC) 1966. ( 29308993 )
2018
29
Critical Commentary 1: Reliability and Validity of the DC/TMD Axis I. ( 29370322 )
2018
30
Critical Commentary 2: Reliability and Validity of the DC/TMD Axis I. ( 29370323 )
2018
31
Critical Commentary 3: Reliability and Validity of the DC/TMD Axis I. ( 29370324 )
2018
32
Authors' Response to Critical Commentaries: Reliability and Validity of the DC/TMD Axis I. ( 29370325 )
2018
33
Diagnostic accuracy of three screening questions (3Q/TMD) in relation to the DC/TMD in a specialized orofacial pain clinic. ( 29448865 )
2018
34
A high prevalence of TMD is related to somatic awareness and pain intensity among healthy dental students. ( 29457522 )
2018
35
Calculations with off-shell matrix elements, TMD parton densities and TMD parton showers. ( 29497349 )
2018
36
Dentist's distress in the management of chronic pain control: The example of TMD pain in a dental practice-based research network. ( 29505535 )
2018
37
TMD splitting functions in [Formula: see text] factorization: the real contribution to the gluon-to-gluon splitting. ( 29527125 )
2018
38
Insufficient evidence to support or reject effect of conservative TMD therapies on otologic signs and symptoms. ( 29568021 )
2018
39
Management of pain in patients with temporomandibular disorder (TMD): challenges and solutions. ( 29588615 )
2018
40
Reduced heart rate variability and increased saliva cortisol in patients with TMD. ( 29604544 )
2018
41
Outcomes of therapeutic TMD interventions on oral health related quality of life: A qualitative systematic review. ( 29700502 )
2018
42
Specific occlusal scheme for partially edentulous patients with TMD signs-preliminary report. ( 29709708 )
2018
43
TMD-based highly efficient electrocatalysts developed by combined computational and experimental approaches. ( 29725691 )
2018
44
Comparison of the Bony Changes of TMJ in Patients With and Without TMD Complaints Using CBCT. ( 29854888 )
2018
45
Enhanced electronic and optical properties of three TMD heterobilayers. ( 29873344 )
2018
46
Correlation between pain and MRI findings in TMD patients. ( 29884310 )
2018
47
Relationship between craniofacial pain and TMD disorders: an epidemiological investigation. ( 29904844 )
2018
48
TMD symptoms and vertical mandibular symmetry in young adult orthodontic patients in North Sumatra, Indonesia: a cross-sectional study. ( 29946446 )
2018
49
Relationship between Otological Symptoms and TMD. ( 29993214 )
2018
50
Comparative effectiveness of photobiomodulation and manual therapy alone or combined in TMD patients: a randomized clinical trial. ( 29995062 )
2018

Variations for Tibial Muscular Dystrophy, Tardive

UniProtKB/Swiss-Prot genetic disease variations for Tibial Muscular Dystrophy, Tardive:

76
# Symbol AA change Variation ID SNP ID
1 TTN p.Ile34306Asn VAR_026694 rs281864928
2 TTN p.Leu34315Pro VAR_026695 rs267607156

ClinVar genetic disease variations for Tibial Muscular Dystrophy, Tardive:

6 (show top 50) (show all 2274)
# Gene Variation Type Significance SNP ID Assembly Location
1 TTN NM_133378.4(TTN) indel Pathogenic rs281864927 GRCh37 Chromosome 2, 179391925: 179391935
2 TTN NM_133378.4(TTN) indel Pathogenic rs281864927 GRCh38 Chromosome 2, 178527198: 178527208
3 TTN NM_133378.4(TTN): c.100163T> C (p.Leu33388Pro) single nucleotide variant Pathogenic rs267607156 GRCh37 Chromosome 2, 179391848: 179391848
4 TTN NM_133378.4(TTN): c.100163T> C (p.Leu33388Pro) single nucleotide variant Pathogenic rs267607156 GRCh38 Chromosome 2, 178527121: 178527121
5 TTN NM_133378.4(TTN): c.100136T> A (p.Ile33379Asn) single nucleotide variant Pathogenic rs281864928 GRCh37 Chromosome 2, 179391875: 179391875
6 TTN NM_133378.4(TTN): c.100136T> A (p.Ile33379Asn) single nucleotide variant Pathogenic rs281864928 GRCh38 Chromosome 2, 178527148: 178527148
7 TTN NM_133378.4(TTN): c.100133A> C (p.His33378Pro) single nucleotide variant Pathogenic rs281864931 GRCh37 Chromosome 2, 179391878: 179391878
8 TTN NM_133378.4(TTN): c.100133A> C (p.His33378Pro) single nucleotide variant Pathogenic rs281864931 GRCh38 Chromosome 2, 178527151: 178527151
9 TTN NM_001256850.1(TTN): c.102966delA (p.Lys34322Asnfs) deletion Pathogenic rs281864930 GRCh37 Chromosome 2, 179391826: 179391826
10 TTN NM_001256850.1(TTN): c.102966delA (p.Lys34322Asnfs) deletion Pathogenic rs281864930 GRCh38 Chromosome 2, 178527099: 178527099
11 TTN NM_133378.4(TTN): c.100186C> T (p.Gln33396Ter) single nucleotide variant Pathogenic rs281864929 GRCh37 Chromosome 2, 179391825: 179391825
12 TTN NM_133378.4(TTN): c.100186C> T (p.Gln33396Ter) single nucleotide variant Pathogenic rs281864929 GRCh38 Chromosome 2, 178527098: 178527098
13 TTN NM_133378.4(TTN): c.100188_100193delAGATGG (p.Gln33396_Gly33398delinsHis) deletion Pathogenic rs281864933 GRCh37 Chromosome 2, 179391818: 179391823
14 TTN NM_133378.4(TTN): c.100188_100193delAGATGG (p.Gln33396_Gly33398delinsHis) deletion Pathogenic rs281864933 GRCh38 Chromosome 2, 178527091: 178527096
15 TTN NM_133378.4(TTN): c.99943delT (p.Ser33315Glnfs) deletion Pathogenic rs281864932 GRCh37 Chromosome 2, 179392206: 179392206
16 TTN NM_133378.4(TTN): c.99943delT (p.Ser33315Glnfs) deletion Pathogenic rs281864932 GRCh38 Chromosome 2, 178527479: 178527479
17 TTN TTN: c.1003G> A (p.Val335Met) single nucleotide variant Benign/Likely benign rs72647846 GRCh37 Chromosome 2, 179659891: 179659891
18 TTN TTN: c.1003G> A (p.Val335Met) single nucleotide variant Benign/Likely benign rs72647846 GRCh38 Chromosome 2, 178795164: 178795164
19 TTN NM_133378.4(TTN): c.10256G> A (p.Ser3419Asn) single nucleotide variant Benign/Likely benign rs2291310 GRCh37 Chromosome 2, 179623758: 179623758
20 TTN NM_133378.4(TTN): c.10256G> A (p.Ser3419Asn) single nucleotide variant Benign/Likely benign rs2291310 GRCh38 Chromosome 2, 178759031: 178759031
21 TTN NM_133378.4(TTN): c.10793G> A (p.Arg3598Lys) single nucleotide variant Benign/Likely benign rs2742347 GRCh37 Chromosome 2, 179600648: 179600648
22 TTN NM_133378.4(TTN): c.10793G> A (p.Arg3598Lys) single nucleotide variant Benign/Likely benign rs2742347 GRCh38 Chromosome 2, 178735921: 178735921
23 TTN NM_133378.4(TTN): c.1079G> C (p.Arg360Thr) single nucleotide variant Benign/Likely benign rs56128843 GRCh37 Chromosome 2, 179659815: 179659815
24 TTN NM_133378.4(TTN): c.1079G> C (p.Arg360Thr) single nucleotide variant Benign/Likely benign rs56128843 GRCh38 Chromosome 2, 178795088: 178795088
25 TTN NM_133378.4(TTN): c.10878C> T (p.Ser3626=) single nucleotide variant Benign/Likely benign rs2742348 GRCh37 Chromosome 2, 179600563: 179600563
26 TTN NM_133378.4(TTN): c.10878C> T (p.Ser3626=) single nucleotide variant Benign/Likely benign rs2742348 GRCh38 Chromosome 2, 178735836: 178735836
27 TTN NM_133378.4(TTN): c.11033G> A (p.Ser3678Asn) single nucleotide variant Benign/Likely benign rs184740744 GRCh37 Chromosome 2, 179600408: 179600408
28 TTN NM_133378.4(TTN): c.11033G> A (p.Ser3678Asn) single nucleotide variant Benign/Likely benign rs184740744 GRCh38 Chromosome 2, 178735681: 178735681
29 TTN NM_133378.4(TTN): c.11252C> G (p.Pro3751Arg) single nucleotide variant Benign/Likely benign rs72648927 GRCh37 Chromosome 2, 179599667: 179599667
30 TTN NM_133378.4(TTN): c.11252C> G (p.Pro3751Arg) single nucleotide variant Benign/Likely benign rs72648927 GRCh38 Chromosome 2, 178734940: 178734940
31 TTN NM_133378.4(TTN): c.11446G> A (p.Val3816Ile) single nucleotide variant Benign/Likely benign rs72648929 GRCh37 Chromosome 2, 179599473: 179599473
32 TTN NM_133378.4(TTN): c.11446G> A (p.Val3816Ile) single nucleotide variant Benign/Likely benign rs72648929 GRCh38 Chromosome 2, 178734746: 178734746
33 TTN NM_133378.4(TTN): c.11446G> C (p.Val3816Leu) single nucleotide variant Conflicting interpretations of pathogenicity rs72648929 GRCh37 Chromosome 2, 179599473: 179599473
34 TTN NM_133378.4(TTN): c.11446G> C (p.Val3816Leu) single nucleotide variant Conflicting interpretations of pathogenicity rs72648929 GRCh38 Chromosome 2, 178734746: 178734746
35 TTN NM_003319.4(TTN): c.13282+4410G> A single nucleotide variant Benign/Likely benign rs72648932 GRCh37 Chromosome 2, 179598399: 179598399
36 TTN NM_003319.4(TTN): c.13282+4410G> A single nucleotide variant Benign/Likely benign rs72648932 GRCh38 Chromosome 2, 178733672: 178733672
37 TTN TTN: c.15792T> C (p.Ile5264=) single nucleotide variant Benign/Likely benign rs12993099 GRCh37 Chromosome 2, 179598228: 179598228
38 TTN TTN: c.15792T> C (p.Ile5264=) single nucleotide variant Benign/Likely benign rs12993099 GRCh38 Chromosome 2, 178733501: 178733501
39 TTN NM_133378.4(TTN): c.12363C> T (p.Asn4121=) single nucleotide variant Benign/Likely benign rs72648935 GRCh37 Chromosome 2, 179597808: 179597808
40 TTN NM_133378.4(TTN): c.12363C> T (p.Asn4121=) single nucleotide variant Benign/Likely benign rs72648935 GRCh38 Chromosome 2, 178733081: 178733081
41 TTN NM_133378.4(TTN): c.12381T> C (p.Asn4127=) single nucleotide variant Conflicting interpretations of pathogenicity rs143845692 GRCh37 Chromosome 2, 179597790: 179597790
42 TTN NM_133378.4(TTN): c.12381T> C (p.Asn4127=) single nucleotide variant Conflicting interpretations of pathogenicity rs143845692 GRCh38 Chromosome 2, 178733063: 178733063
43 TTN NM_133378.4(TTN): c.12571G> A (p.Val4191Met) single nucleotide variant Conflicting interpretations of pathogenicity rs72648937 GRCh37 Chromosome 2, 179597600: 179597600
44 TTN NM_133378.4(TTN): c.12571G> A (p.Val4191Met) single nucleotide variant Conflicting interpretations of pathogenicity rs72648937 GRCh38 Chromosome 2, 178732873: 178732873
45 TTN NM_133378.4(TTN): c.12797A> G (p.Tyr4266Cys) single nucleotide variant Benign/Likely benign rs72648939 GRCh37 Chromosome 2, 179597259: 179597259
46 TTN NM_133378.4(TTN): c.12797A> G (p.Tyr4266Cys) single nucleotide variant Benign/Likely benign rs72648939 GRCh38 Chromosome 2, 178732532: 178732532
47 TTN NM_133378.4(TTN): c.13316A> G (p.Tyr4439Cys) single nucleotide variant Conflicting interpretations of pathogenicity rs72648942 GRCh37 Chromosome 2, 179596554: 179596554
48 TTN NM_133378.4(TTN): c.13316A> G (p.Tyr4439Cys) single nucleotide variant Conflicting interpretations of pathogenicity rs72648942 GRCh38 Chromosome 2, 178731827: 178731827
49 TTN NM_133378.4(TTN): c.13451-7C> T single nucleotide variant Conflicting interpretations of pathogenicity rs371785683 GRCh37 Chromosome 2, 179596317: 179596317
50 TTN NM_133378.4(TTN): c.13451-7C> T single nucleotide variant Conflicting interpretations of pathogenicity rs371785683 GRCh38 Chromosome 2, 178731590: 178731590

Expression for Tibial Muscular Dystrophy, Tardive

Search GEO for disease gene expression data for Tibial Muscular Dystrophy, Tardive.

Pathways for Tibial Muscular Dystrophy, Tardive

GO Terms for Tibial Muscular Dystrophy, Tardive

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