ANPH
MCID: ANN002
MIFTS: 57

Anencephaly (ANPH)

Categories: Fetal diseases, Genetic diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Anencephaly

MalaCards integrated aliases for Anencephaly:

Name: Anencephaly 58 39 12 77 54 26 55 76 38 56 45 15 41
Anencephalus 26 76 30 6
Aprosencephaly 26 56
Anph 58 76
Absence of a Large Part of the Brain and the Skull 54
Isolated Anencephaly/exencephaly 60
Congenital Absence of Brain 26
Anencephalia 26

Characteristics:

Orphanet epidemiological data:

60
isolated anencephaly/exencephaly
Inheritance: Multigenic/multifactorial,Not applicable; Prevalence: 1-5/10000 (Europe),1-9/1000000 (Europe),1-5/10000 (United States); Age of onset: Infancy,Neonatal; Age of death: early childhood;

OMIM:

58
Inheritance:
autosomal recessive

Miscellaneous:
onset in utero
death in utero or perinatally
one patient with a confirmed trim36 mutation has been reported (last curated july 2017)


HPO:

33
anencephaly:
Onset and clinical course congenital onset


Classifications:



External Ids:

Disease Ontology 12 DOID:0060668
OMIM 58 206500
KEGG 38 H02120
MeSH 45 D000757
ICD10 34 00.0 Q00.0
ICD10 via Orphanet 35 Q00.0
Orphanet 60 ORPHA1048
MedGen 43 C0002902

Summaries for Anencephaly

NINDS : 55 Anencephaly is a defect in the closure of the neural tube during fetal development. The neural tube is a narrow channel that folds and closes between the 3rd and 4th weeks of pregnancy to form the brain and spinal cord of the embryo. Anencephaly occurs when the "cephalic" or head end of the neural tube fails to close, resulting in the absence of a major portion of the brain, skull, and scalp. Infants with this disorder are born without a forebrain (the front part of the brain) and a cerebrum (the thinking and coordinating part of the brain). The remaining brain tissue is often exposed--not covered by bone or skin. A baby born with anencephaly is usually blind, deaf, unconscious, and unable to feel pain. Although some individuals with anencephaly may be born with a rudimentary brain stem, the lack of a functioning cerebrum permanently rules out the possibility of ever gaining consciousness. Reflex actions such as breathing and responses to sound or touch may occur. The cause of anencephaly is unknown. Although it is thought that a mother's diet and vitamin intake may play a role, scientists believe that many other factors are also involved. Recent studies have shown that the addition of folic acid (vitamin B9) to the diet of women of childbearing age may significantly reduce the incidence of neural tube defects. Therefore it is recommended that all women of childbearing age consume 0.4 mg of folic acid daily.

MalaCards based summary : Anencephaly, also known as anencephalus, is related to craniorachischisis and neural tube defects, folate-sensitive. An important gene associated with Anencephaly is TRIM36 (Tripartite Motif Containing 36), and among its related pathways/superpathways are Selenium Micronutrient Network and One carbon pool by folate. The drugs Capsaicin and Pharmaceutical Solutions have been mentioned in the context of this disorder. Affiliated tissues include Neural Tube, brain and bone, and related phenotypes are primary adrenal insufficiency and anencephaly

Disease Ontology : 12 A congenital nervous system abnormality characterized by failure of the anterior neuropore to close resulting in partial or complete absence of the cranial vault accompanied by absence of overlying tissues, including the brain and cerebral hemispheres, skull and scalp.

Genetics Home Reference : 26 Anencephaly is a condition that prevents the normal development of the brain and the bones of the skull. This condition results when a structure called the neural tube fails to close during the first few weeks of embryonic development. The neural tube is a layer of cells that ultimately develops into the brain and spinal cord. Because anencephaly is caused by abnormalities of the neural tube, it is classified as a neural tube defect.

NIH Rare Diseases : 54 Anencephaly is a type of neural tube defect characterized by abnormal development of the brain and the bones of the skull. The neural tube is a narrow channel that normally folds and closes between the 3rd and 4th weeks of pregnancy, forming the brain and spinal cord of the embryo. Anencephaly occurs when the 'cephalic' or head end of the neural tube fails to close, causing the absence of a major portion of the brain, skull, and scalp. Infants with this disorder are born without a forebrain (the front part of the brain) and a cerebrum (the thinking and coordinating part of the brain). The remaining brain tissue is often exposed (not covered by bone or skin). Affected babies are usually blind, deaf, unconscious, and unable to feel pain. Almost all babies with anencephaly die before birth, although some may survive a few hours or a few days after birth. Anencephaly is likely caused by an interaction between genetic and environmental factors, many of which remain unknown.

OMIM : 58 Anencephaly is characterized by the absence of cranial vault and brain tissues in the fetus. It is considered an extreme form of neural tube defect (182940) (summary by Singh et al., 2017). (206500)

UniProtKB/Swiss-Prot : 76 Anencephaly: An extreme form of neural tube defect resulting in the absence of brain tissues, and death in utero or perinatally. Infants are born with intact spinal cords, cerebellums, and brainstems, but lack formation of neural structures above this level. The skull is only partially formed. ANPH inheritance is autosomal recessive.

Wikipedia : 77 Anencephaly is the absence of a major portion of the brain, skull, and scalp that occurs during... more...

Related Diseases for Anencephaly

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

(show top 50) (show all 108)
# Related Disease Score Top Affiliating Genes
1 craniorachischisis 32.8 CELSR1 DACT1 SCRIB VANGL2
2 neural tube defects, folate-sensitive 32.5 MTHFD1 MTHFR MTR MTRR
3 neural tube defects 30.7 ACHE AFP CELSR1 DACT1 MARCKSL1 MTHFD1
4 myelomeningocele 30.0 CELSR1 DACT1 MTHFR PRICKLE1 SCRIB VANGL1
5 aprosencephaly syndrome 12.4
6 anencephaly and spina bifida x-linked 12.3
7 aprosencephaly and cerebellar dysgenesis 12.1
8 encephalocele anencephaly 12.1
9 iniencephaly 11.6
10 encephalocele 11.5
11 exencephaly 11.4
12 acalvaria 11.4
13 acrocallosal syndrome 11.4
14 hydrolethalus syndrome 2 11.2
15 cerebellar agenesis 11.0
16 hyperthermia induced defects 11.0
17 schisis association 11.0
18 testicular infarct 10.4 AFP MTHFR
19 nondisjunction 10.4 MTHFR MTRR
20 homocystinuria due to deficiency of n -methylenetetrahydrofolate reductase activity 10.3 MTHFR MTR
21 methylmalonic aciduria and homocystinuria type cble 10.3 MTR MTRR
22 methylmalonic aciduria and homocystinuria type cblg 10.3 MTR MTRR
23 vitamin metabolic disorder 10.3 MTHFR MTR
24 upper thoracic spina bifida cystica 10.2 MTHFD1 MTHFR VANGL1 VANGL2
25 cervicothoracic spina bifida cystica 10.2 MTHFD1 MTHFR VANGL1 VANGL2
26 cervical spina bifida cystica 10.2 MTHFD1 MTHFR VANGL1 VANGL2
27 medeira-dennis-donnai syndrome 10.2
28 transcobalamin ii deficiency 10.2 MTHFR MTR MTRR
29 lumbosacral spina bifida cystica 10.2 MTHFD1 MTHFR VANGL1 VANGL2
30 thoracolumbosacral spina bifida cystica 10.2 MTHFD1 MTHFR VANGL1 VANGL2
31 total spina bifida cystica 10.2 MTHFD1 MTHFR VANGL1 VANGL2
32 upper thoracic spina bifida aperta 10.2 MTHFD1 MTHFR VANGL1 VANGL2
33 thoracolumbosacral spina bifida aperta 10.2 MTHFD1 MTHFR VANGL1 VANGL2
34 homocystinuria 10.2 MTHFR MTR MTRR
35 lumbosacral spina bifida aperta 10.2 MTHFD1 MTHFR VANGL1 VANGL2
36 cervical spina bifida aperta 10.2 MTHFD1 MTHFR VANGL1 VANGL2
37 cervicothoracic spina bifida aperta 10.2 MTHFD1 MTHFR VANGL1 VANGL2
38 total spina bifida aperta 10.2 MTHFD1 MTHFR VANGL1 VANGL2
39 homocysteinemia 10.2 MTHFR MTR MTRR
40 sirenomelia 10.2
41 strabismus 10.2 PRICKLE1 VANGL1 VANGL2
42 disorders of intracellular cobalamin metabolism 10.2 MTR MTRR
43 polydactyly 10.1
44 omphalocele 10.1
45 diprosopus 10.1
46 megaloblastic anemia 10.1 MTHFD1 MTHFR MTR MTRR
47 patau syndrome 10.1 AFP SIX3
48 open iniencephaly 10.1
49 closed iniencephaly 10.1
50 cleft lip 10.1

Graphical network of the top 20 diseases related to Anencephaly:



Diseases related to Anencephaly

Symptoms & Phenotypes for Anencephaly

Human phenotypes related to Anencephaly:

60 33
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 primary adrenal insufficiency 60 33 hallmark (90%) Very frequent (99-80%) HP:0008207
2 anencephaly 60 33 hallmark (90%) Very frequent (99-80%) HP:0002323
3 spina bifida 33 HP:0002414

Symptoms via clinical synopsis from OMIM:

58
Neurologic Central Nervous System:
anencephaly
rachischisis
neural tube defect

Clinical features from OMIM:

206500

MGI Mouse Phenotypes related to Anencephaly:

47 (show all 13)
# Description MGI Source Accession Score Top Affiliating Genes
1 growth/size/body region MP:0005378 10.32 ACHE CELSR1 DACT1 FOXN1 KIF7 MTHFD1
2 mortality/aging MP:0010768 10.31 ACHE AFP CELSR1 DACT1 FOXN1 KIF7
3 embryo MP:0005380 10.27 CELSR1 DACT1 FOXN1 KIF7 MARCKSL1 MTHFD1
4 nervous system MP:0003631 10.21 ACHE CELSR1 DACT1 GRP KIF7 MARCKSL1
5 cardiovascular system MP:0005385 10.18 DACT1 FOXN1 KIF7 MTHFD1 PARD3 PRICKLE1
6 limbs/digits/tail MP:0005371 10.13 CELSR1 DACT1 KIF7 MTHFD1 MTHFR PARD3
7 craniofacial MP:0005382 10.05 ACHE CELSR1 KIF7 PRICKLE1 SCRIB SIX3
8 hearing/vestibular/ear MP:0005377 10 ACHE CELSR1 FOXN1 PRICKLE1 SCRIB VANGL1
9 reproductive system MP:0005389 10 ACHE AFP CELSR1 DACT1 FOXN1 KIF7
10 no phenotypic analysis MP:0003012 9.92 ACHE DACT1 KIF7 MTHFR PARD3 PRICKLE1
11 respiratory system MP:0005388 9.76 ACHE CELSR1 KIF7 PRICKLE1 SCRIB SIX3
12 skeleton MP:0005390 9.61 CELSR1 DACT1 FOXN1 KIF7 MTHFR PRICKLE1
13 vision/eye MP:0005391 9.36 ACHE CELSR1 FOXN1 KIF7 MARCKSL1 MTHFR

Drugs & Therapeutics for Anencephaly

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

(show all 25)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Capsaicin Approved Phase 1 404-86-4 1548943
2 Pharmaceutical Solutions Phase 1
3 Antipruritics Phase 1
4 Dermatologic Agents Phase 1
5 Peripheral Nervous System Agents Phase 1
6
leucovorin Approved Not Applicable 58-05-9 143 6006
7
Hydroxocobalamin Approved Not Applicable 13422-51-0 15589840 11953898
8
Methylcobalamin Approved, Experimental, Investigational Not Applicable 13422-55-4
9
Triamcinolone Approved, Vet_approved 124-94-7 31307
10
Folic Acid Approved, Nutraceutical, Vet_approved Not Applicable 59-30-3 6037
11
Cyanocobalamin Approved, Nutraceutical Not Applicable 68-19-9 44176380
12
Cobalamin Experimental Not Applicable 13408-78-1 6857388
13 Vitamin B9 Not Applicable
14 Micronutrients Not Applicable
15 Trace Elements Not Applicable
16 Vitamins Not Applicable
17 Folate Not Applicable
18 Nutrients Not Applicable
19 Hematinics Not Applicable
20 Vitamin B Complex Not Applicable
21 Vitamin B12 Not Applicable
22 Vitamin B 12 Not Applicable
23 Triamcinolone hexacetonide
24 triamcinolone acetonide
25 Triamcinolone diacetate

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Pain Biomarker Study Active, not recruiting NCT03511846 Phase 1 Oral capsaicin;Topical capsaicin;Intranasal capsaicin;Low Flow Oxygen;High Flow Oxygen
2 Study of Genetic Risk Factors for Spina Bifida and Anencephaly Unknown status NCT00031122
3 Genetics of Neural Tube Defects Unknown status NCT01253746
4 Incidence of Pregnancies and Births With Spina Bifida in Denmark in 2008-2014 Unknown status NCT02685813
5 Dosage Effects of Folic Acid on Blood Folates of Honduran Women Completed NCT00207532 Not Applicable folic acid
6 Blood Folate and Homocysteine Levels Following Administration of Folic Acid According to Different Daily Dosing Schedules:a Simulation of Food Fortification Completed NCT00207558 Not Applicable folic acid
7 Effectiveness of Comprehensive Tertiary Interventions on Incidence and Clinical Outcomes of Birth Defects Recruiting NCT03725878 Not Applicable
8 The Will Erwin Headache Research Center - Cluster Headache Study Recruiting NCT02910323
9 Genetics of Spina Bifida and Anencephaly Active, not recruiting NCT00636233

Search NIH Clinical Center for Anencephaly

Cochrane evidence based reviews: anencephaly

Genetic Tests for Anencephaly

Genetic tests related to Anencephaly:

# Genetic test Affiliating Genes
1 Anencephalus 30 TRIM36

Anatomical Context for Anencephaly

MalaCards organs/tissues related to Anencephaly:

42
Brain, Bone, Spinal Cord, Skin, Cerebellum, Testes, Pituitary
LifeMap Discovery
Data from LifeMap, the Embryonic Development and Stem Cells Database

Cells/anatomical compartments in embryo or adult related to Anencephaly:
# Tissue Anatomical CompartmentCell Relevance
1 Neural Tube Neural Tube Affected by disease

Publications for Anencephaly

Articles related to Anencephaly:

(show top 50) (show all 687)
# Title Authors Year
1
Anencephaly; the maternal experience of continuing with the pregnancy. Incompatible with life but not with love. ( 30640134 )
2019
2
Total prevention of folic acid-preventable spina bifida and anencephaly would reduce child mortality in India: Implications in achieving Target 3.2 of the Sustainable Development Goals. ( 29195033 )
2018
3
A targeted sequencing panel identifies rare damaging variants in multiple genes in the cranial neural tube defect, anencephaly. ( 29205322 )
2018
4
Meckel Gruber syndrome associated with anencephaly-an unusual reported case. ( 29479449 )
2018
5
Countries with an immediate potential for primary prevention of spina bifida and anencephaly: Mandatory fortification of wheat flour with folic acid. ( 29532629 )
2018
6
Anencephaly and obstetric outcome beyond the age of viability. ( 29570453 )
2018
7
Maternal association and influence of DHFR 19 bp deletion variant predisposes foetus to anencephaly susceptibility: a family-based triad study. ( 29708443 )
2018
8
A 2017 global update on folic acid-preventable spina bifida and anencephaly. ( 30070772 )
2018
9
Reductions in child mortality by preventing spina bifida and anencephaly: Implications in achieving Target 3.2 of the Sustainable Development Goals in developing countries. ( 30070775 )
2018
10
Acrania-exencephaly-anencephaly sequence phenotypic characterization using two- and three-dimensional ultrasound between 11 and 13 weeks and 6 days of gestation. ( 30451407 )
2018
11
Prenatal Sonographic Image of Sirenomelia with Anencephaly and Craniorachischisis Totalis. ( 30622827 )
2018
12
A homozygous mutation in TRIM36 causes autosomal recessive anencephaly in an Indian family. ( 28087737 )
2017
13
A detailed musculoskeletal study of a fetus with anencephaly and spina bifida (craniorachischisis), and comparison with other cases of human congenital malformations. ( 28266009 )
2017
14
Molecular cytogenetic characterization of a duplication of 15q24.2-q26.2 associated with anencephaly and neural tube defect. ( 28805617 )
2017
15
Changing trends in the prevalence of anencephaly in Liaoning province of Northeast China from 2006-2015: data from a population-based birth defects registry. ( 28881776 )
2017
16
Prenatal diagnosis of sirenomelia with anencephaly and craniorachischisis totalis: A case report study. ( 29390297 )
2017
17
Primary prevention of neural tube defects in Brazil: insights into anencephaly. ( 26280994 )
2016
18
Elective ventilation to facilitate organ donation in infants with anencephaly: perinatal professionals' views and an ethical analysis. ( 26676258 )
2016
19
Neonatal organ donors: thinking beyond anencephaly and involving parents and the public. ( 26709614 )
2016
20
Will the Eastern Mediterranean Region be the first to prevent all of folic acid-preventable spina bifida and anencephaly? ( 26739968 )
2016
21
Anencephaly: An Ongoing Investigation in Washington State. ( 26914056 )
2016
22
Making the call: Reporting a cluster of cases of anencephaly. ( 27333230 )
2016
23
A 2015 global update on folic acid-preventable spina bifida and anencephaly. ( 27418029 )
2016
24
Check the Head: Emergency Ultrasound Diagnosis of Fetal Anencephaly. ( 27429697 )
2016
25
Prolonged unassisted survival in an infant with anencephaly. ( 27799226 )
2016
26
Oropharyngeal teratoma, oral duplication, cervical diplomyelia and anencephaly in a 22-week fetus: A review of the craniofacial teratoma syndrome. ( 25360518 )
2015
27
The effect of flurbiprofen on the development of anencephaly in early stage chicken embryos. ( 25365663 )
2015
28
Timing of detection of anencephaly in The Netherlands. ( 25613559 )
2015
29
Characteristics of fetuses evaluated due to suspected anencephaly: a population-based cohort study in southern Brazil. ( 25789781 )
2015
30
Concomitant omphalocele, anencephaly and arthrogryposis associated with trisomy 18. ( 26043511 )
2015
31
Preventable spina bifida and anencephaly in Europe. ( 26178749 )
2015
32
MicroRNAs function primarily in the pathogenesis of human anencephaly via the mitogen-activated protein kinase signaling pathway. ( 24634123 )
2014
33
Dichorionic twin pregnancy discordant for anencephaly: two cases with different management. ( 24779254 )
2014
34
Anencephaly and its associated malformations. ( 25386414 )
2014
35
The birth of a monstrous child throughout history: the example of anencephaly between the Egyptian New Empire and the 21st century. ( 25702380 )
2014
36
Association of iniencephaly, anencephaly, and fusion of cervical vertebral bodies: a new autosomal recessive syndrome? ( 23011585 )
2013
37
Recurrent anencephaly: a case report and examination of the VANGL1 and FOXN1 genes. ( 23301910 )
2013
38
Seriously ill woman expecting a baby with anencephaly has waited a month to learn whether she can have an abortion. ( 23633226 )
2013
39
Misoprostol for labor induction in the second trimester in a woman with previous three cesarean deliveries and an intrauterine death of an anencephaly. ( 23724534 )
2013
40
Discordant anencephaly and Cantrell syndrome in monozygotic twins conceived by ICSI and IVF-ET. ( 23915871 )
2013
41
Amniotic fluid and serum biomarkers from women with neural tube defect-affected pregnancies: a case study for myelomeningocele and anencephaly: clinical article. ( 23971635 )
2013
42
2012 Update on global prevention of folic acid-preventable spina bifida and anencephaly. ( 24000219 )
2013
43
Dichorionic, diamnionic twin pregnancy discordant for anencephaly: Report of two cases and literature review. ( 27330630 )
2013
44
Effect on risk of anencephaly of gene-nutrient interactions between methylenetetrahydrofolate reductase C677T polymorphism and maternal folate, vitamin B12 and homocysteine profile. ( 22230335 )
2012
45
Anencephaly does not cause structural alterations in the fetal penis. ( 22239726 )
2012
46
Prenatal diagnosis of a fetus with anencephaly and thumb agenesis. ( 22348786 )
2012
47
Acrania-anencephaly associated with hypospadias. Prenatal ultrasound and MRI diagnosis and molecular folate metabolism pathway analysis. ( 22443204 )
2012
48
Anencephaly: do the pregnancy and maternal characteristics impact the pregnancy outcome? ( 22462001 )
2012
49
Pregnancy termination following prenatal diagnosis of anencephaly or spina bifida: a systematic review of the literature. ( 23097374 )
2012
50
Death of baby with anencephaly after mother was refused an abortion sparks controversy in India. ( 23118330 )
2012

Variations for Anencephaly

UniProtKB/Swiss-Prot genetic disease variations for Anencephaly:

76
# Symbol AA change Variation ID SNP ID
1 TRIM36 p.Asp518Asn VAR_079581

ClinVar genetic disease variations for Anencephaly:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 TRIM36 NM_018700.3(TRIM36): c.1522C> A (p.Pro508Thr) single nucleotide variant Pathogenic rs773607884 GRCh37 Chromosome 5, 114469569: 114469569
2 TRIM36 NM_018700.3(TRIM36): c.1522C> A (p.Pro508Thr) single nucleotide variant Pathogenic rs773607884 GRCh38 Chromosome 5, 115133872: 115133872

Expression for Anencephaly

Search GEO for disease gene expression data for Anencephaly.

Pathways for Anencephaly

GO Terms for Anencephaly

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

(show all 21)
# Name GO ID Score Top Affiliating Genes
1 wound healing GO:0042060 9.75 CELSR1 SCRIB VANGL2
2 cellular amino acid biosynthetic process GO:0008652 9.69 MTHFD1 MTR MTRR
3 hair follicle development GO:0001942 9.65 CELSR1 FOXN1 VANGL2
4 one-carbon metabolic process GO:0006730 9.6 MTHFD1 MTHFR
5 cobalamin metabolic process GO:0009235 9.59 MTR MTRR
6 establishment of planar polarity GO:0001736 9.58 CELSR1 VANGL2
7 planar cell polarity pathway involved in neural tube closure GO:0090179 9.57 CELSR1 VANGL2
8 apical protein localization GO:0045176 9.56 CELSR1 VANGL2
9 Wnt signaling pathway, planar cell polarity pathway GO:0060071 9.56 CELSR1 PRICKLE1 VANGL1 VANGL2
10 tetrahydrofolate interconversion GO:0035999 9.55 MTHFD1 MTHFR
11 homocysteine metabolic process GO:0050667 9.54 MTHFR MTRR
12 folic acid metabolic process GO:0046655 9.54 MTHFD1 MTHFR MTRR
13 establishment or maintenance of epithelial cell apical/basal polarity GO:0045197 9.5 PARD3 SCRIB VANGL2
14 establishment of body hair planar orientation GO:0048105 9.49 CELSR1 VANGL2
15 lateral sprouting involved in lung morphogenesis GO:0060490 9.46 CELSR1 VANGL2
16 orthogonal dichotomous subdivision of terminal units involved in lung branching morphogenesis GO:0060488 9.43 CELSR1 VANGL2
17 planar dichotomous subdivision of terminal units involved in lung branching morphogenesis GO:0060489 9.4 CELSR1 VANGL2
18 methionine metabolic process GO:0006555 9.33 MTHFD1 MTHFR MTRR
19 methionine biosynthetic process GO:0009086 9.26 MTHFD1 MTHFR MTR MTRR
20 neural tube closure GO:0001843 9.1 CELSR1 MTHFD1 MTHFR PRICKLE1 SCRIB VANGL2
21 multicellular organism development GO:0007275 10.07 CELSR1 DACT1 FOXN1 SCRIB SIX3 VANGL1

Sources for Anencephaly

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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