TTM
MCID: TRC010
MIFTS: 47

Trichotillomania (TTM)

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

Aliases & Classifications for Trichotillomania

MalaCards integrated aliases for Trichotillomania:

Name: Trichotillomania 58 12 77 54 76 38 13 45 15 41 74
Hair-Pulling 30 6
Ttm 58 76
Hair-Pulling Syndrome 54

Characteristics:

OMIM:

58
Inheritance:
autosomal dominant
multifactorial

Miscellaneous:
affected individuals can pull hair from any part of the body, including eyelashes and eyebrows
overlap with obsessive-compulsive disorder (ocd, )
overlap with tourette syndrome
affects 1 to 3% of the population
one patient reported with slitrk1 mutation (as of january 2010)


HPO:

33

Classifications:



External Ids:

Disease Ontology 12 DOID:0050587
OMIM 58 613229
KEGG 38 H00864
MeSH 45 D014256
ICD10 34 F63.3
UMLS 74 C0040953

Summaries for Trichotillomania

NIH Rare Diseases : 54 Trichotillomania is a disorder characterized by an overwhelming urge to repeatedly pull out one's own hair, resulting in hair loss (alopecia).  It is classified under the obsessive-compulsive and related disorders category. Trichotillomania results in highly variable patterns of hair loss. The scalp is the most common area of hair pulling, followed by the eyebrows, eyelashes, pubic and perirectal areas, axillae, limbs, torso, and face. The resulting alopecia can range from thin unnoticeable areas of hair loss to total baldness. Some people chew or swallow the hair they pull out (trichophagy), which can result in gastrointestinal problems or develop a trichobezoar (hairball in the intestines or stomach). In many cases, people with this disorder feel extreme tension when they feel an impulse, followed by relief, gratification or pleasure afterwards. The disorder may be mild and manageable, or severe and debilitating.  The cause is unknown, though both environmental and genetic causes have been suspected. Treatment may involve cognitive behavior therapy, such as habit reversal training (learning to substitute the hair-pulling behavior) and/or drug therapy, but these are not always effective.

MalaCards based summary : Trichotillomania, also known as hair-pulling, is related to obsessive-compulsive disorder and stereotypic movement disorder. An important gene associated with Trichotillomania is SLITRK1 (SLIT And NTRK Like Family Member 1). The drugs Dopamine and Methylphenidate have been mentioned in the context of this disorder. Affiliated tissues include skin, eye and brain, and related phenotypes are alopecia and obsessive-compulsive behavior

Disease Ontology : 12 An impulse control disorder that involves the uncontrollable plucking of ones hair.

OMIM : 58 Trichotillomania (TTM) is a neuropsychiatric disorder characterized by chronic, repetitive, or compulsive hair pulling resulting in noticeable hair loss. The activity causes distress to the individual and often interferes with functioning. Affected individuals may develop physical complications and often have overlapping psychologic disorders, such as Tourette syndrome (GTS; 137580) or obsessive-compulsive disorder (OCD; 164230) (review by Novak et al., 2009). (613229)

UniProtKB/Swiss-Prot : 76 Trichotillomania: A neuropsychiatric disorder characterized by chronic, repetitive, or compulsive hair pulling resulting in noticeable hair loss. Affected individuals may develop physical complications and often have overlapping psychological disorders, such as Gilles de la Tourette syndrome or obsessive-compulsive disorder.

Wikipedia : 77 Trichotillomania (TTM), also known as hair pulling disorder, is a mental disorder characterised by a... more...

Related Diseases for Trichotillomania

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

(show all 47)
# Related Disease Score Top Affiliating Genes
1 obsessive-compulsive disorder 29.8 DLGAP3 PRL SLITRK1 SLITRK5
2 stereotypic movement disorder 29.3 CLNK PRL SLITRK1
3 impulse control disorder 28.9 CLNK DLGAP3 SLITRK1
4 cardiac arrest 10.5
5 alopecia 10.5
6 alopecia areata 10.4
7 anxiety 10.3
8 depression 10.3
9 bipolar disorder 10.2
10 dementia 10.2
11 attention deficit-hyperactivity disorder 10.2
12 pol iii-related leukodystrophies 10.2
13 autism 10.1
14 anorexia nervosa 10.1
15 body dysmorphic disorder 10.1
16 sclerosing cholangitis, neonatal 10.1
17 angiomyolipoma 10.1
18 celiac disease 1 10.0
19 alexithymia 10.0
20 generalized anxiety disorder 10.0
21 dermatitis 10.0
22 cri-du-chat syndrome 10.0
23 fetishism 10.0
24 exophthalmos 10.0
25 atrial standstill 1 9.9
26 carpal tunnel syndrome 9.9
27 gilles de la tourette syndrome 9.9
28 huntington disease 9.9
29 monilethrix 9.9
30 schizophrenia 9.9
31 myasthenia gravis 9.9
32 frontotemporal dementia 9.9
33 mononeuropathy of the median nerve, mild 9.9
34 liver disease 9.9
35 restless legs syndrome 9.9
36 autism spectrum disorder 9.9
37 typhoid fever 9.9
38 post-traumatic stress disorder 9.9
39 tinea capitis 9.9
40 human immunodeficiency virus infectious disease 9.9
41 eating disorder 9.9
42 vascular dementia 9.9
43 alopecia totalis 9.9
44 myasthenia gravis congenital 9.9
45 fixed drug eruption 9.9
46 telogen effluvium 9.8 DLGAP3 SLITRK1
47 follicular mucinosis 9.7 DLGAP3 SLITRK1

Graphical network of the top 20 diseases related to Trichotillomania:



Diseases related to Trichotillomania

Symptoms & Phenotypes for Trichotillomania

Human phenotypes related to Trichotillomania:

33
# Description HPO Frequency HPO Source Accession
1 alopecia 33 HP:0001596
2 obsessive-compulsive behavior 33 HP:0000722
3 hair-pulling 33 HP:0012167

Symptoms via clinical synopsis from OMIM:

58
Skin Nails Hair Hair:
alopecia resulting from compulsive hair pulling

Neurologic Behavioral Psychiatric Manifestations:
hair pulling, chronic, compulsive, repetitive
distress and functional impairment resulting from hair pulling behavior

Clinical features from OMIM:

613229

MGI Mouse Phenotypes related to Trichotillomania:

47
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 9.26 DLGAP3 PRL SLITRK1 SLITRK5
2 nervous system MP:0003631 8.92 DLGAP3 PRL SLITRK1 SLITRK5

Drugs & Therapeutics for Trichotillomania

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

(show top 50) (show all 94)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Dopamine Approved Phase 4,Phase 3,Not Applicable 62-31-7, 51-61-6 681
2
Methylphenidate Approved, Investigational Phase 4 113-45-1 4158
3
Olanzapine Approved, Investigational Phase 4 132539-06-1 4585
4
Sertraline Approved Phase 4 79617-96-2 68617
5 Dopamine Agents Phase 4,Phase 3,Not Applicable
6 Neurotransmitter Uptake Inhibitors Phase 4
7 Neurotransmitter Agents Phase 4,Phase 3,Phase 2,Not Applicable
8 Dopamine Uptake Inhibitors Phase 4
9 Central Nervous System Stimulants Phase 4
10 Gastrointestinal Agents Phase 4
11 Tranquilizing Agents Phase 4,Not Applicable
12 Antiemetics Phase 4
13 Antipsychotic Agents Phase 4,Not Applicable
14 Serotonin Agents Phase 4,Not Applicable
15 Serotonin Uptake Inhibitors Phase 4
16 Autonomic Agents Phase 4
17 Psychotropic Drugs Phase 4,Phase 2,Phase 3,Not Applicable
18 Peripheral Nervous System Agents Phase 4,Phase 2,Phase 3
19 Central Nervous System Depressants Phase 4,Phase 2,Not Applicable
20 Antidepressive Agents Phase 4,Phase 2,Not Applicable
21
Serotonin Investigational, Nutraceutical Phase 4,Not Applicable 50-67-9 5202
22
Levodopa Approved Phase 3 59-92-7 6047
23
Carbidopa Approved Phase 3 28860-95-9 34359
24
Dronabinol Approved, Illicit Phase 2, Phase 3 1972-08-3 16078
25 Immunologic Factors Phase 3
26 Adjuvants, Immunologic Phase 3
27 Antiparkinson Agents Phase 3
28 Dopamine agonists Phase 3,Not Applicable
29 Carbidopa, levodopa drug combination Phase 3
30 Aromatic Amino Acid Decarboxylase Inhibitors Phase 3
31 Hallucinogens Phase 2, Phase 3
32 Hormones Phase 2, Phase 3
33 Cannabinoid Receptor Agonists Phase 2, Phase 3
34 Hormone Antagonists Phase 2, Phase 3
35 Analgesics Phase 2, Phase 3
36 Analgesics, Non-Narcotic Phase 2, Phase 3
37 Hormones, Hormone Substitutes, and Hormone Antagonists Phase 2, Phase 3
38
Acetylcysteine Approved, Investigational Phase 2,Not Applicable 616-91-1 12035
39
Naltrexone Approved, Investigational, Vet_approved Phase 2 16590-41-3 5360515
40
Ethanol Approved Phase 2,Not Applicable 64-17-5 702
41
Ketamine Approved, Vet_approved Phase 2 6740-88-1 3821
42
Milk thistle Approved, Experimental, Investigational Phase 2 65666-07-1
43
Mechlorethamine Approved, Investigational Phase 2 51-75-2 4033
44
Folic Acid Approved, Nutraceutical, Vet_approved Phase 2 59-30-3 6037
45
Glutamic Acid Approved, Nutraceutical Phase 2 56-86-0 33032
46 Protective Agents Phase 2,Not Applicable
47 Respiratory System Agents Phase 2,Not Applicable
48 Antioxidants Phase 2,Not Applicable
49 N-monoacetylcystine Phase 2,Not Applicable
50 Expectorants Phase 2,Not Applicable

Interventional clinical trials:

(show all 49)
# Name Status NCT ID Phase Drugs
1 Methylphenidate in ADHD With Trichotillomania Unknown status NCT00552266 Phase 4 Methylphenidate
2 Olanzapine in the Treatment of Hair Pulling (Trichotillomania) Completed NCT00182507 Phase 4 Olanzapine
3 Sertraline and Habit Reversal in the Treatment of Patients With Trichotillomania Completed NCT00118014 Phase 4 Sertraline
4 Safety/Efficacy Study of Levodopa-Carbidopa Intestinal Gel in Parkinson's Subjects Completed NCT00360568 Phase 3 Levodopa-carbidopa intestinal gel
5 Levodopa-Carbidopa Intestinal Gel Open-Label Study in Advanced Parkinson's Disease Completed NCT00335153 Phase 3 Levodopa-carbidopa intestinal gel
6 Dronabinol in Trichotillomania and Other Body Focused Repetitive Behaviors Recruiting NCT03530800 Phase 2, Phase 3 Dronabinol;Placebo
7 DPCP for the Treatment of Alopecia Areata Recruiting NCT03651752 Phase 3 Diphenylcyclopropenone (DPCP) Ointment
8 Testing a New Therapy for Trichotillomania Unknown status NCT00872742 Phase 2
9 N-acetylcysteine (NAC) for Pediatric Obsessive-Compulsive Disorder Unknown status NCT01172275 Phase 2 N-Acetylcysteine;Placebo
10 Awareness Enhancement and Monitoring Device for Treatment of Trichotillomania Completed NCT01654523 Phase 2
11 Inositol in Trichotillomania Completed NCT01875445 Phase 2 Inositol;Placebo
12 Trichotillomania: Group Cognitive-Behavioral Therapy Completed NCT01968343 Phase 2
13 N-Acetylcysteine for Pediatric Trichotillomania Completed NCT00993265 Phase 2 N-Acetylcysteine;Placebo
14 Naltrexone in the Treatment of Trichotillomania Completed NCT00775229 Phase 2 Naltrexone;Placebo
15 N-Acetyl Cysteine in Trichotillomania Completed NCT00354770 Phase 2 Placebo;N-Acetyl Cysteine
16 Stepped Care in the Treatment of Trichotillomania Completed NCT01118637 Phase 2
17 Cognitive Behavioral Therapy for Trichotillomania Completed NCT00740909 Phase 1, Phase 2
18 Marinol in Trichotillomania or Obsessive Compulsive Disorder Completed NCT01093976 Phase 2 Dronabinol
19 N-acetylcysteine (NAC) for Children With Tourette Syndrome Completed NCT01172288 Phase 2 N-Acetylcysteine (NAC);Placebo
20 Ketamine Infusion for Obsessive-Compulsive Disorder Completed NCT01349231 Phase 2 ketamine
21 A Study in Patients With Trichotillomania Recruiting NCT03797521 Phase 2 SXC-2023;Placebo
22 Milk Thistle in Trichotillomania in Children and Adults Active, not recruiting NCT02473913 Phase 2 Milk Thistle;Placebo
23 Valchlor in the Treatment of Lichen Planopilaris Active, not recruiting NCT03417141 Phase 2 Valchlor
24 Efficacy of Topical Gentamycin for Hereditary Hypotrichosis Simplex Caused by Nonsense Mutations in CDSN Not yet recruiting NCT03492866 Phase 2 Gentamicin Sulfate
25 Hair Fall in Patients on Low Dose Methotrexate Unknown status NCT02591823
26 Online Response Inhibition Training for Trichotillomania Completed NCT01984333 Not Applicable
27 Habit Reversal Training for Children and Adolescents With Trichotillomania Completed NCT01445444 Not Applicable
28 Trial of Aripiprazole in Trichotillomania Completed NCT00947154 Not Applicable aripiprazole
29 Efficacy of COMB (Comprehensive Behavioral) Model of Treatment of Trichotillomania Completed NCT01878110 Not Applicable
30 Online Treatment of Trichotillomania Completed NCT02044237 Not Applicable
31 Response Inhibition Training for Individuals With Trichotillomania Completed NCT01638975 Not Applicable
32 Examining Behavior Therapy for Trichotillomania in Children and Adolescents Completed NCT00917098 Not Applicable
33 Developing Effective Response Inhibition Training for Symptom Relief in OCD and Trichotillomania Completed NCT02059980 Not Applicable
34 Cognitive Behavioral Treatment of Pediatric Trichotillomania Completed NCT00043563 Not Applicable
35 Evaluation and Follow-up of Individuals With Obsessive-Compulsive Disorder and Related Conditions Completed NCT00004550
36 Glutathione Levels and Compulsivity Completed NCT02794389 Not Applicable N-acetyl cysteine;Placebo
37 Cortical Excitability in Obsessive-Compulsive and Related Disorders Completed NCT00029068
38 Evaluation of a Brief Surf the Urge Intervention Completed NCT02771886 Not Applicable
39 Genetics of Obsessive-Compulsive Disorder Completed NCT00001548
40 Telepsychotherapy for the Treatment of Adolescents With Trichotillomania Recruiting NCT03725163 Not Applicable
41 Comprehensive Behavioral (ComB) Model of Treatment for Trichotillomania Recruiting NCT03486041 Not Applicable
42 Cognitive Training in Patients With Trichotillomania (Hair-pulling Disorder) Recruiting NCT02794753 Not Applicable
43 Motor Control Mechanisms by CNS of Tuina in Patients With Lumbar Disk Herniation Recruiting NCT03475095 Not Applicable
44 Accelerated Intermittent Theta Burst Stimulation for Depressive Symptoms Recruiting NCT03601117 Not Applicable
45 Alcohol Related Impairment and Reinforcement: Pre to Post Roux en Y Gastric Bypass Surgery Recruiting NCT02370732 Not Applicable
46 Cognitive Behavioral Group Therapy for Trichotillomania (Hair Pulling Disorder) Active, not recruiting NCT02747771
47 Treating Skin Picking With Cognitive-Behavioral Protocol in Individual and Group Format. Active, not recruiting NCT03182478 Not Applicable
48 Outcomes of Cognitive Behavioral Therapy (CBT) Interventions Provided by Unlicensed Professionals Active, not recruiting NCT01075672 Not Applicable
49 Relevance of Trichoscopy in Differential Diagnosis of Focal Non-cicatricial Alopecia in Children Not yet recruiting NCT03260777

Search NIH Clinical Center for Trichotillomania

Cochrane evidence based reviews: trichotillomania

Genetic Tests for Trichotillomania

Genetic tests related to Trichotillomania:

# Genetic test Affiliating Genes
1 Hair-Pulling 30 SLITRK1

Anatomical Context for Trichotillomania

MalaCards organs/tissues related to Trichotillomania:

42
Skin, Eye, Brain, Testes

Publications for Trichotillomania

Articles related to Trichotillomania:

(show top 50) (show all 668)
# Title Authors Year
1
Identifying standardized definitions of treatment response in trichotillomania: A meta-analysis. ( 30336171 )
2019
2
Trichotillomania Triggered by Vitamin D Deficiency and Resolving Dramatically With Vitamin D Therapy. ( 30649027 )
2019
3
Confirmatory factor analysis of the SLEEP-50 Questionnaire in Trichotillomania (Hair-Pulling Disorder) and Excoriation (Skin-Picking) Disorder. ( 30654305 )
2019
4
A retrospective review of twelve patients with trichotillomania treated in a psychodermatology service. ( 30689239 )
2019
5
Milk Thistle Treatment for Children and Adults with Trichotillomania: A Double-Blind, Placebo-Controlled, Crossover Negative Study. ( 30694881 )
2019
6
Trichotillomania (hair pulling disorder). ( 30745687 )
2019
7
Trichoscopy features of trichotillomania. ( 30746759 )
2019
8
Electroconvulsive therapy for trichotillomania in a bipolar patient. ( 30888852 )
2019
9
Drug Treatment Of Trichotillomania (Hair-Pulling Disorder), Excoriation (Skin-Picking) Disorder, And Nail-Biting (Onychophagia). ( 30892151 )
2019
10
Trichotillomania: a psychopathological perspective and the psychiatric comorbidity of hair pulling. ( 30901067 )
2019
11
Trichotillomania Ranging from "Ritual to Illness" and as a Rare Clinical Manifestation of Frontotemporal Dementia: Review of Literature and Case Report. ( 29769783 )
2018
12
Striatal abnormalities in trichotillomania: a multi-site MRI analysis. ( 29515968 )
2018
13
Computerized response inhibition training for children with trichotillomania. ( 29407564 )
2018
14
Clinical Characteristics and Comorbidity of Pediatric Trichotillomania: the Study of 38 Cases in Croatia. ( 29546862 )
2018
15
Remote treatment of sleep-related trichotillomania and trichophagia. ( 29468679 )
2018
16
Atomoxetine in the Treatment of Adolescent With Trichotillomania and Attention-Deficit/Hyperactivity Disorder. ( 29533364 )
2018
17
Trichotillomania ( 29630238 )
2018
18
Awareness Enhancing and Monitoring Device plus Habit Reversal in the Treatment of Trichotillomania: An Open Feasibility Trial. ( 29607291 )
2018
19
Salivary sex hormones in adolescent females with trichotillomania. ( 29753253 )
2018
20
Types of avoidance in hair-pulling disorder (trichotillomania): An exploratory and confirmatory analysis. ( 29306818 )
2018
21
Inducible nitric oxide synthase (NOS2) knockout mice as a model of trichotillomania. ( 29682419 )
2018
22
The Dermoscopic "Pluck Out Sign" for Beard Trichotillomania. ( 29457007 )
2018
23
Trichotillomania Associated With Aripiprazole: A Case Report. ( 29257789 )
2018
24
Salivary Inflammatory Markers in Trichotillomania: A Pilot Study. ( 29920483 )
2018
25
Autism and trichotillomania in an adolescent boy. ( 30185454 )
2018
26
ISMP Adverse Drug Reactions: Lithium-Induced Cardiomyopathy Fixed Drug Eruption Due to Cetirizine, Levocetirizine, and Hydroxyzine Nivolumab-Induced Myasthenia Gravis Nivolumab-Induced Cholangitic Liver Disease Torsade de Pointes Caused by Psychiatric Polypharmacy Trichotillomania Associated With Aripiprazole. ( 30559522 )
2018
27
Disentangling Family Life and Hair Pulling: Trichotillomania and Relatedness. ( 30001153 )
2018
28
The psychodynamic significance of trichotillomania: a case study. ( 30087492 )
2018
29
Trichotillomania and Trichophagia: Modern Diagnostic and Therapeutic Methods. ( 30099694 )
2018
30
Acceptance and Commitment Therapy for Trichotillomania: A Randomized Controlled Trial of Adults and Adolescents. ( 30117327 )
2018
31
An fMRI Pilot Study of Cognitive Flexibility in Trichotillomania. ( 30141727 )
2018
32
Trichotillomania (hair pulling disorder): Clinical characteristics, psychosocial aspects, treatment approaches, and ethical considerations. ( 30152568 )
2018
33
Assessment and treatment of trichotillomania (hair pulling disorder) and excoriation (skin picking) disorder. ( 30446196 )
2018
34
Therapeutic Aspects of Trichotillomania: A Review of Current Treatment Options. ( 30476371 )
2018
35
Comprehensive behavioral treatment for an adult with sensory-based trichotillomania: An illustrative case study. ( 30589578 )
2018
36
A Pilot Examination of Oxidative Stress in Trichotillomania. ( 30602106 )
2018
37
Plucking, Picking, and Pulling: The Hair-Raising History of Trichotillomania. ( 30783339 )
2018
38
The relationship between microstructural alterations of the brain and clinical measurements in children and adolescents with hair pulling disorder. ( 28357534 )
2018
39
Hair-pulling disorder complicated by skin-picking disorder: An unknown side-effect of dopamine replacement therapy? ( 30039895 )
2018
40
Trichotillomania: the impact of treatment history on the outcome of an Internet-based intervention. ( 28461751 )
2017
41
Trichotillomania and Bipolar Disorder. ( 28142271 )
2017
42
Trichoscopic clues for diagnosis of alopecia areata and trichotillomania in Asians. ( 28074524 )
2017
43
A double-blind, placebo-controlled study of inositol in trichotillomania. ( 27824633 )
2017
44
Trichotillomania in celiac disease patient refractory to iron replacement. ( 28779566 )
2017
45
Making sense of the role of sense organs in trichotillomania. ( 28827858 )
2017
46
"i hair": A prognostic marker in alopecia areata & trichotillomania. ( 29263543 )
2017
47
Systematic Review of Published Primary Studies of Neuropsychology and Neuroimaging in Trichotillomania. ( 28835311 )
2017
48
Cortical thickness abnormalities in trichotillomania: international multi-site analysis. ( 28664230 )
2017
49
Increased Trichotillomania Symptoms in a Child With Fluoxetine Treatment. ( 28118168 )
2017
50
Pathological grooming: Evidence for a single factor behind trichotillomania, skin picking and nail biting. ( 28902896 )
2017

Variations for Trichotillomania

ClinVar genetic disease variations for Trichotillomania:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 SLITRK1 NM_052910.2(SLITRK1): c.1264delC (p.Leu422Phefs) deletion Pathogenic rs193302861 GRCh37 Chromosome 13, 84454379: 84454379
2 SLITRK1 NM_052910.2(SLITRK1): c.1264delC (p.Leu422Phefs) deletion Pathogenic rs193302861 GRCh38 Chromosome 13, 83880244: 83880244

Expression for Trichotillomania

Search GEO for disease gene expression data for Trichotillomania.

Pathways for Trichotillomania

GO Terms for Trichotillomania

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

# Name GO ID Score Top Affiliating Genes
1 axonogenesis GO:0007409 9.16 SLITRK1 SLITRK5
2 positive regulation of synapse assembly GO:0051965 8.96 SLITRK1 SLITRK5
3 adult behavior GO:0030534 8.62 SLITRK1 SLITRK5

Sources for Trichotillomania

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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