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MCID: SPC005
MIFTS: 46

Speech Disorder

Categories: Mental diseases, Neuronal diseases
Genes Variations Tissues Related diseases Publications Pathways Symptoms & Phenotypes Drugs
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Aliases & Classifications for Speech Disorder

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MalaCards integrated aliases for Speech Disorder:

Name: Speech Disorder 12 6 15
Speech Disorders 54 44 70

Classifications:

MalaCards categories:
Anatomical: Mental diseases Neuronal diseases
See all MalaCards categories (disease lists)
ICD10: 32


External Ids:

Disease Ontology 12 DOID:92
MeSH 44 D013064
NCIt 50 C5041
ICD10 32 R47
UMLS 70 C0037822
Sources

Summaries for Speech Disorder

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Disease Ontology : 12 A communication disorder that involves difficulty with the act of speech production.

MalaCards based summary : Speech Disorder, also known as speech disorders, is related to epilepsy, focal, with speech disorder and with or without mental retardation and stuttering, and has symptoms including scanning speech, aprosodia and other and unspecified speech disturbances. An important gene associated with Speech Disorder is CLCN6 (Chloride Voltage-Gated Channel 6), and among its related pathways/superpathways are Lysosome and SALM protein interactions at the synapses. The drugs Dopamine and Ecopipam have been mentioned in the context of this disorder. Affiliated tissues include tongue, brain and cortex, and related phenotype is behavior/neurological.

Wikipedia : 73 Speech disorders or speech impairments are a type of communication disorder where normal speech is... more...

Sources

Related Diseases for Speech Disorder

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

(show top 50) (show all 209)
# Related Disease Score Top Affiliating Genes
1 epilepsy, focal, with speech disorder and with or without mental retardation 33.0 GRIN2B GRIN2A
2 stuttering 32.1 NAGPA GNPTG GNPTAB FOXP2 CNTNAP2
3 speech and communication disorders 31.9 PRODH NAGPA GRIN2B GRIN2A GNPTG FOXP2
4 articulation disorder 31.9 NAGPA GNPTG GNPTAB FOXP2 CNTNAP2
5 echolalia 31.9 PRODH FOXP2 CNTNAP2
6 childhood apraxia of speech 30.8 FOXP2 CNTNAP2
7 landau-kleffner syndrome 30.7 GRIN2B GRIN2A CNTNAP2
8 dyslexia 30.6 NAGPA GRIN2B GNPTG GNPTAB FOXP2 CNTNAP2
9 learning disability 30.5 PRODH FOXP2 CNTNAP2 CFAP47
10 movement disease 30.5 PRODH LOC106627981 GBA CNTNAP2 CLCN6
11 fragile x syndrome 30.5 PRODH GRIN2B GRIN2A CNTNAP2
12 focal epilepsy 30.4 GRIN2B GRIN2A CNTNAP2
13 dysphagia 30.4 DES ARID1B
14 alacrima, achalasia, and mental retardation syndrome 30.4 TRAPPC9 SCAPER GRIN2B GRIN2A FOXP1 CNTNAP2
15 autism spectrum disorder 30.4 TRAPPC9 PRODH GRIN2B GRIN2A FOXP2 CNTNAP2
16 autism 30.3 PRODH GRIN2B GRIN2A FOXP2 FOXP1 CNTNAP2
17 non-syndromic intellectual disability 30.3 TRAPPC9 CFAP47 ARID1B
18 benign epilepsy with centrotemporal spikes 30.3 PRODH GRIN2B GRIN2A FOXP2 CNTNAP2
19 pervasive developmental disorder 30.3 PRODH GRIN2B GRIN2A FOXP2 CNTNAP2
20 specific language impairment 30.2 NAGPA GNPTG FOXP2 FOXP1 CNTNAP2 CFAP47
21 disease of mental health 29.8 TRAPPC9 SCAPER PRODH GRIN2B GRIN2A GBA
22 epilepsy-aphasia spectrum 11.2
23 grin2a-related speech disorders and epilepsy 11.1
24 spondyloepiphyseal dysplasia-brachydactyly and distinctive speech 11.0
25 neurodegeneration with brain iron accumulation 1 10.9
26 polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 1 10.9
27 spastic paraplegia 20, autosomal recessive 10.8
28 pontine tegmental cap dysplasia 10.8
29 mutism 10.8
30 intellectual deficit buenos-aires type 10.8
31 centralopathic epilepsy 10.7
32 hurler syndrome 10.5 NAGPA GNPTG GNPTAB
33 mucolipidosis iii alpha/beta 10.5 NAGPA GNPTG GNPTAB
34 mucolipidosis 10.5 NAGPA GNPTG GNPTAB
35 tarsal tunnel syndrome 10.5 GNPTG GNPTAB
36 mucolipidosis ii alpha/beta 10.5 NAGPA GNPTG GNPTAB
37 tibial neuropathy 10.5 GNPTG GNPTAB
38 mucolipidoses 10.5 GNPTG GNPTAB
39 lingual-facial-buccal dyskinesia 10.5 GRIN2B GRIN2A CNTNAP2
40 mucopolysaccharidosis-plus syndrome 10.5 NAGPA GNPTG GNPTAB GBA
41 amnestic disorder 10.5 GRIN2B GRIN2A CNTNAP2
42 charcot-marie-tooth disease, axonal, type 2v 10.5 GNPTAB GBA
43 blepharophimosis 10.5 FOXP2 FOXP1 ARID1B
44 gaucher disease, perinatal lethal 10.5 LOC106627981 GBA
45 mental retardation with language impairment and with or without autistic features 10.4 FOXP2 FOXP1
46 rigidity and multifocal seizure syndrome, lethal neonatal 10.4 LOC106627981 GBA
47 rhabdoid cancer 10.4 PRODH DES ARID1B
48 reading disorder 10.4 NAGPA GRIN2B FOXP2 CNTNAP2 CFAP47
49 autosomal recessive disease 10.4 SCAPER PRODH GNPTG GNPTAB
50 west syndrome 10.4 GRIN2B GRIN2A CNTNAP2 CLCN6

Graphical network of the top 20 diseases related to Speech Disorder:



Diseases related to Speech Disorder
Sources

Symptoms & Phenotypes for Speech Disorder

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UMLS symptoms related to Speech Disorder:


scanning speech; aprosodia; other and unspecified speech disturbances; other speech disturbances; cluttering; dysglossia; rhinolalia

MGI Mouse Phenotypes related to Speech Disorder:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 9.4 ARID1B CASS4 CLCN6 CNTNAP2 DES GBA
Sources

Drugs & Therapeutics for Speech Disorder

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Drugs for Speech Disorder (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 11)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Dopamine Approved Phase 2, Phase 3 51-61-6, 62-31-7 681
2
Ecopipam Investigational Phase 2, Phase 3 112108-01-7
3 Psychotropic Drugs Phase 2, Phase 3
4 Dopamine Agents Phase 2, Phase 3
5 Dopamine Antagonists Phase 2, Phase 3
6 Neurotransmitter Agents Phase 2, Phase 3
7 Antipsychotic Agents Phase 2, Phase 3
8
Miconazole Approved, Investigational, Vet_approved 22916-47-8 4189
9
Clotrimazole Approved, Vet_approved 23593-75-1 2812
10 Antifungal Agents
11 Pharmaceutical Solutions

Interventional clinical trials:

(show all 35)
# Name Status NCT ID Phase Drugs
1 An Open-label Study to Evaluate the Efficacy and Tolerability of Ecopipam in Adults With Childhood Onset Fluency Disorder (Stuttering). Unknown status NCT02909088 Phase 2, Phase 3 Ecopipam 50mg;Ecopipam 100mg
2 Safety/Efficacy of Intranasally-Administered Bioactive Factors Produced by M2 Type Macrophages in Children With Developmental Speech Disorders Recruiting NCT04689282 Phase 1, Phase 2
3 Word by Word: Building Sentences With Preschoolers Who Use AAC Recruiting NCT03538925 Phase 2
4 Speech-in-Noise Treatments to Improve Hypophonia in Everyday Social Contexts for Individuals With Parkinson's Disease Not yet recruiting NCT04323085 Phase 2
5 Treating Speech Disorders in Patients With Parkinson's Disease Using Altered Auditory Feedback Completed NCT00488657 Phase 1
6 Biofeedback and Speech Disorders Completed NCT01905449 Phase 1
7 Intervention Software for Children With Speech Sound Disorders Completed NCT02490826
8 Lingual Frenum and Possible Alterations in the Articulation of Phonemes Completed NCT01180309
9 Visual Feedback of Tongue by Ultrasound Echography for Speech Trouble Rehabilitation Completed NCT02752425
10 Treatment Efficacy for Developmental Motor Speech Disorders: A PROMPT Randomized Control Trial Completed NCT02105402
11 Study of Speech Disorders , Voice and Swallowing in Primary Dystonia Oromandibular Completed NCT03380676
12 A Speech Disorders Severity Index to Measure the Impact of Oral and Pharyngeal Cavity on Speech Production Completed NCT02875795
13 Characteristics of Idiopathic Familial Speech Disorders Completed NCT00001551
14 Age-related Correlates of Treatment Efficacy and Efficiency for Late-acquired Sounds Completed NCT03663972
15 Brain Connectivity Supporting Language Recovery in Aphasia Completed NCT02416856
16 Apraxia of Speech: A Comparison of EPG Treatment & Sound Production Treatment Completed NCT02554513
17 Software for Alternative Communication Completed NCT02847923
18 Enhancing Speech Fluency With Non-invasive Brain Stimulation in Developmental Stuttering Completed NCT02288598
19 The Effect of Oral Candidiasis on the Speech Production, Feeding Skills, and Self-Concept of Children and Adolescents With Symptomatic HIV Infection Completed NCT00001448
20 Exploration of the Diagnostic Capabilities of Ultrasound of the Oropharynx and Larynx Completed NCT00001167
21 Evaluation of the Effects of Response Elaboration Training for Aphasia Completed NCT00125216
22 Word-Retrieval for Aphasia: Facilitation of Generalization Completed NCT00125242
23 Development of Normative Ultrasound Databases of Tongue Surface Configuration Completed NCT00001218
24 The Effect of Different Feeding Methods and Non-nutritive Sucking Behaviours on Child Speech Development Recruiting NCT03315416
25 Babble Boot Camp: Preventing Speech and Language Disorders in Children With Classic Galactosemia Recruiting NCT03838016
26 EMG Voice Restoration Recruiting NCT04762043
27 Validation and Cultural Adaptation of the Turkish Translation of the London Speech Evaluation Scale Recruiting NCT04690166
28 Orthognathic Speech Pathology: Phonetic Contrasts of Patients With Dentofacial Discrepancies With Pre- and Post-Treatment Analyses Recruiting NCT04117360
29 A New Membrane Obturator Prothesis Concept for Soft Palate Defects Recruiting NCT04009811
30 Real World Testing of a Brain-Computer Interface to Operate a Commercial Augmentative and Alternative Communication System Recruiting NCT04026581
31 Yi Jin Jing Tiger Roaring Speech Rehabilitation With Real-Time Feedback Technique for Treatment of Speech Disorders in Parkinson's Disease: A Perspective Cohort Study Not yet recruiting NCT04528147
32 Validity of a Task of Acoustic-phonetic Decoding on Anatomic Deficits in Paramedical Assessment of Speech Disorders for Patients Treated for Oral or Oropharyngeal Cancer Not yet recruiting NCT04742998
33 Characterization and Quantification of Motor Speech Disorders in Huntington's Disease: Identification of Acoustic Markers Not yet recruiting NCT04630574
34 Down Syndrome Speech Intelligibility Diagnostic Treatment Study Suspended NCT04059354
35 Influence of Medical Clowning in Videofluoroscopic Examination of Pediatric Speech Disorder Terminated NCT02701322

Search NIH Clinical Center for Speech Disorder

Cochrane evidence based reviews: speech disorders

Sources

Genetic Tests for Speech Disorder

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Sources

Anatomical Context for Speech Disorder

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MalaCards organs/tissues related to Speech Disorder:

40
Tongue, Brain, Cortex, Subthalamic Nucleus, Eye, Temporal Lobe, Cerebellum
Sources

Publications for Speech Disorder

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Articles related to Speech Disorder:

(show top 50) (show all 2187)
# Title Authors PMID Year
1
SCAPER localizes to primary cilia and its mutation affects cilia length, causing Bardet-Biedl syndrome. 6
30723319 2019
2
FOXP genes, neural development, speech and language disorders. 54 61
20429420 2009
3
Structure of the forkhead domain of FOXP2 bound to DNA. 54 61
16407075 2006
4
Parallel FoxP1 and FoxP2 expression in songbird and human brain predicts functional interaction. 54 61
15056695 2004
5
Expression of Foxp2, a gene involved in speech and language, in the developing and adult striatum. 61 54
12815709 2003
6
Comparing global motor characteristics in children and adults with childhood apraxia of speech to a cerebellar stroke patient: evidence for the cerebellar hypothesis in a developmental motor speech disorder. 61
33327803 2021
7
The otolaryngologic manifestations of Sotos syndrome 1: A systematic review. 61
33640723 2021
8
Speech rate association with cerebellar white-matter diffusivity in adults with persistent developmental stuttering. 61
33538875 2021
9
Measurement of Nasalance Scores Without Touching the Philtrum for Better Comfort During Speech Assessment and Therapy: A Preliminary Study. 61
32924600 2021
10
Drug induced stuttering: pharmacovigilance data. 61
33337944 2021
11
De novo stop-loss variants in CLDN11 cause hypomyelinating leukodystrophy. 61
33313762 2021
12
Fatal Disseminated Multiple Intracranial Juvenile Xanthogranuloma without Cutaneous and Other Organ Involvement: A Rare Case Report. 61
33735896 2021
13
Acoustic vowel analysis and speech intelligibility in young adult Hebrew speakers: Developmental dysarthria versus typical development. 61
33522087 2021
14
Speech Outcomes Comparison Between Adult Velopharyngeal Insufficiency and Patients With Unrepaired Cleft Palate. 61
33705003 2021
15
Impact of Surgery for Velopharyngeal Insufficiency on Eustachian Tube Function in Children: Pharyngeal Flap Versus Sphincter Pharyngoplasty. 61
33678034 2021
16
Auditory-Perceptual Features of Speech in Children and Adults With Down Syndrome: A Speech Profile Analysis. 61
33789057 2021
17
Speech rehabilitation in post-stroke aphasia using visual illustration of speech articulators: A case report study. 61
32567986 2021
18
Motor Speech Disorders and Communication Limitations in Progressive Supranuclear Palsy. 61
33719524 2021
19
Pharyngoplasty for Speech Disorders Following Brain Injury. 61
33704959 2021
20
Intravenous paracetamol for neonates: long-term diseases not escalated during 5 years of follow-up. 61
32943529 2021
21
Treatment of speech sound disorders in children: Nonspeech oral exercises. 61
33718569 2021
22
The Dorsal Differentiation of Velar From Alveolar Stops in Typically Developing Children and Children With Persistent Velar Fronting. 61
33719530 2021
23
Right Broca's area is hyperactive in right-handed subjects during meditation: Possible clinical implications? 61
33812300 2021
24
Development and Validation of a Probe Word List to Assess Speech Motor Skills in Children. 61
33705676 2021
25
[Foreign Accent Syndrome]. 61
33678617 2021
26
Educational outcomes associated with persistent speech disorder. 61
33533175 2021
27
A novel missense mutation in the UBE2A gene causes intellectual disability in the large X-linked family. 61
33368912 2021
28
Spinal or cortical direct current stimulation: Which is the best? Evidence from apraxia of speech in post-stroke aphasia. 61
33207242 2021
29
The technology of tongue and hard palate contact detection: a review. 61
33549118 2021
30
Extensive tissue necrosis of the tongue in a methamphetamine user: A case report. 61
33606289 2021
31
Syllabic Diadochokinesis in Adults With and Without Traumatic Brain Injury: Severity, Stability, and Speech Considerations. 61
33630660 2021
32
Associations Between Speech Perception, Vocabulary, and Phonological Awareness Skill in School-Aged Children With Speech Sound Disorders. 61
33514264 2021
33
Increased speech contrast induced by sensorimotor adaptation to a nonuniform auditory perturbation. 61
33356887 2021
34
Delirium in acute stroke: A prospective, cross-sectional, cohort study. 61
33476475 2021
35
Comprehensive genotype-phenotype correlation in AP-4 deficiency syndrome; Adding data from a large cohort of Iranian patients. 61
32895917 2021
36
The neuropsychological outcomes of non-fatal strangulation in domestic and sexual violence: A systematic review. 61
33432860 2021
37
How aware is the public of the existence, characteristics and causes of language impairment in childhood and where have they heard about it? A European survey. 61
33279754 2021
38
The Clinical Features and Prognosis of Anti-NMDAR Encephalitis Depends on Blood Brain Barrier Integrity. 61
33130468 2021
39
A rare diagnosis of an extraventricular neurocytoma. 61
33767892 2021
40
Public attitudes towards people who stutter in South Egypt. 61
33539373 2021
41
Comprehensive Review of Factors Influencing the Use of Telepractice in Stuttering Treatment. 61
33611877 2021
42
Case Report: Clinical Description of a Patient Carrying a 12.48 Mb Microdeletion Involving the 10p13-15.3 Region. 61
33732667 2021
43
Reliability of single-subject neural activation patterns in speech production tasks. 61
33278802 2021
44
Assessment of adult speech disorders: current situation and needs in French-speaking clinical practice. 61
33423572 2021
45
Sensitivity and specificity of an acoustic- and perceptual-based tool for assessing motor speech disorders in French: the MonPaGe-screening protocol. 61
33478251 2021
46
Speech in children with cerebral palsy. 61
32588921 2020
47
Simplification of syllable structure in childhood apraxia of speech: a 2-year follow-up French case study. 61
33305632 2020
48
Dissociated Development of Speech and Limb Sensorimotor Learning in Stuttering: Speech Auditory-motor Learning is Impaired in Both Children and Adults Who Stutter. 61
33091464 2020
49
Assessment of adult patients with cerebral palsy. 61
33364563 2020
50
Neuromuscular and biomechanical adjustments of the speech mechanism during modulation of vocal loudness in children with cerebral palsy and dysarthria. 61
33347384 2020
Sources

Variations for Speech Disorder

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ClinVar genetic disease variations for Speech Disorder:

6
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 SCAPER NM_020843.4(SCAPER):c.2806del (p.Thr935_Leu936insTer) Deletion Pathogenic 548448 rs1567499068 GRCh37: 15:76866531-76866531
GRCh38: 15:76574190-76574190
2 CLCN6 NM_001286.5(CLCN6):c.1658A>G (p.Tyr553Cys) SNV Pathogenic 974617 GRCh37: 1:11894424-11894424
GRCh38: 1:11834367-11834367
3 LOC106627981 , GBA NM_000157.4(GBA):c.1093G>A (p.Glu365Lys) SNV risk factor 199044 rs2230288 GRCh37: 1:155206167-155206167
GRCh38: 1:155236376-155236376
4 ARID1B NM_017519.2(ARID1B):c.3406del (p.Leu1136fs) Deletion Likely pathogenic 374133 rs1057518918 GRCh37: 6:157505463-157505463
GRCh38: 6:157184329-157184329
5 TTN-AS1 , TTN NM_001267550.2(TTN):c.100432T>G (p.Trp33478Gly) SNV Uncertain significance 203055 rs372304158 GRCh37: 2:179401042-179401042
GRCh38: 2:178536315-178536315
6 TTN-AS1 , TTN NM_001267550.2(TTN):c.100447G>C (p.Glu33483Gln) SNV Uncertain significance 203056 rs368321767 GRCh37: 2:179401027-179401027
GRCh38: 2:178536300-178536300
7 TTN NM_001267550.2(TTN):c.30389G>A (p.Arg10130His) SNV Uncertain significance 202555 rs373355159 GRCh37: 2:179567225-179567225
GRCh38: 2:178702498-178702498
8 CPEB1-AS1 , AP3B2 NM_001278512.2(AP3B2):c.881A>C (p.Lys294Thr) SNV Uncertain significance 807299 rs200983489 GRCh37: 15:83349398-83349398
GRCh38: 15:82680646-82680646
9 TTN-AS1 , TTN NM_001267550.2(TTN):c.89386G>A (p.Val29796Met) SNV Likely benign 96314 rs72648237 GRCh37: 2:179418346-179418346
GRCh38: 2:178553619-178553619
Sources

Expression for Speech Disorder

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Search GEO for disease gene expression data for Speech Disorder.
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Pathways for Speech Disorder

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Pathways related to Speech Disorder according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Lysosome 36
11.03 NAGPA GNPTG GNPTAB GBA
2
SALM protein interactions at the synapses 65
10.28 GRIN2B GRIN2A
Sources

GO Terms for Speech Disorder

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Cellular components related to Speech Disorder according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 NMDA selective glutamate receptor complex GO:0017146 8.62 GRIN2B GRIN2A

Biological processes related to Speech Disorder according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 cerebral cortex development GO:0021987 9.54 TRAPPC9 FOXP2 CNTNAP2
2 carbohydrate phosphorylation GO:0046835 9.46 GNPTG GNPTAB
3 ionotropic glutamate receptor signaling pathway GO:0035235 9.43 GRIN2B GRIN2A
4 glutamate receptor signaling pathway GO:0007215 9.4 GRIN2B GRIN2A
5 excitatory chemical synaptic transmission GO:0098976 9.32 GRIN2B GRIN2A
6 actin filament reorganization GO:0090527 9.26 EFS CASS4
7 calcium ion transmembrane import into cytosol GO:0097553 9.16 GRIN2B GRIN2A
8 secretion of lysosomal enzymes GO:0033299 8.96 NAGPA GNPTAB
9 lysosome organization GO:0007040 8.8 NAGPA GNPTAB GBA

Molecular functions related to Speech Disorder according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 ionotropic glutamate receptor activity GO:0004970 9.26 GRIN2B GRIN2A
2 NMDA glutamate receptor activity GO:0004972 9.16 GRIN2B GRIN2A
3 glutamate-gated calcium ion channel activity GO:0022849 8.96 GRIN2B GRIN2A
4 UDP-N-acetylglucosamine-lysosomal-enzyme N-acetylglucosaminephosphotransferase activity GO:0003976 8.62 GNPTG GNPTAB
Sources

Sources for Speech Disorder

About this section
3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
The MalaCards human disease database index: 1-9 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z
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