Anencephaly (ANPH)

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

Aliases & Classifications for Anencephaly

MalaCards integrated aliases for Anencephaly:

Name: Anencephaly 57 12 73 20 43 53 72 36 54 6 44 15 39 32
Anencephalus 43 72 29 6
Aprosencephaly 43 58 54
Anph 57 72
Absence of a Large Part of the Brain and the Skull 20
Isolated Anencephaly/exencephaly 58
Congenital Absence of Brain 43
Anencephalia 43


Orphanet epidemiological data:

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;


57 (Updated 20-May-2021)
autosomal recessive

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


Inheritance autosomal recessive inheritance
Onset and clinical course congenital onset


Orphanet: 58  
Rare neurological diseases
Developmental anomalies during embryogenesis

External Ids:

Disease Ontology 12 DOID:0060668
OMIM® 57 206500
KEGG 36 H02120
MeSH 44 D000757
ICD10 32 Q00.0
ICD10 via Orphanet 33 Q00.0
MedGen 41 C0002902

Summaries for Anencephaly

NINDS : 53 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 isolated anencephaly. An important gene associated with Anencephaly is TRIM36 (Tripartite Motif Containing 36), and among its related pathways/superpathways are Metabolism of water-soluble vitamins and cofactors and Wnt / Hedgehog / Notch. The drugs Salmon calcitonin and Erenumab have been mentioned in the context of this disorder. Affiliated tissues include Neural Tube, brain and spinal cord, 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.

MedlinePlus Genetics : 43 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.Because the neural tube fails to close properly, the developing brain and spinal cord are exposed to the amniotic fluid that surrounds the fetus in the womb. This exposure causes the nervous system tissue to break down (degenerate). As a result, people with anencephaly are missing large parts of the brain called the cerebrum and cerebellum. These brain regions are necessary for thinking, hearing, vision, emotion, and coordinating movement. The bones of the skull are also missing or incompletely formed.Because these nervous system abnormalities are so severe, almost all babies with anencephaly die before birth or within a few hours or days after birth.

GARD : 20 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® : 57 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) (Updated 20-May-2021)

KEGG : 36 Anencephaly is a congenital absence of a major portion of the brain, skull, and scalp. The primary abnormality is failure of cranial neurulation, the embryologic process that separates the precursors of the forebrain from amniotic fluid. Anencephaly shows a heterogeneous etiology, ranging from environmental to genetic causes. The autosomal recessive inheritance has been reported. Women with elevated levels of plasma homocysteine, low folate, or low vitamin B12 (cobalamin) are at an increased risk of having a child with neural tube defect (NTD). NTDs are the second most common type of birth defects and include anencephaly and open spina bifida [DS:H00262].

UniProtKB/Swiss-Prot : 72 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 : 73 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 230)
# Related Disease Score Top Affiliating Genes
1 craniorachischisis 32.2 VANGL2 SCRIB CELSR1
2 isolated anencephaly 32.2 VANGL2 MTHFR
3 exencephaly 32.2 VANGL2 MTHFR
4 neural tube defects, folate-sensitive 31.9 MTRR MTR MTHFR MTHFD1
5 acrocallosal syndrome 31.7 SHH KIF7 HYLS1
6 neural tube defects 30.8 VANGL2 VANGL1 SLC25A32 SHH SCRIB PRICKLE1
7 polyhydramnios 30.7 PUS3 HYLS1 AFP
8 omphalocele 30.7 MTHFR MTHFD1 AFP
9 cleft lip/palate 30.6 MTRR MTR MTHFR
10 meningocele 30.5 VANGL1 CELSR1 AFP
11 cleft lip 30.5 SHH MTRR MTR MTHFR
12 placental abruption 30.3 MTRR MTHFR MTHFD1
13 tethered spinal cord syndrome 30.2 VANGL1 MTHFD1 AFP
14 spina bifida occulta 30.1 VANGL2 VANGL1 MTHFR MTHFD1
15 neural tube closure defect 30.0 PARD3 MTHFR
16 hydrolethalus syndrome 1 29.9 PUS3 KIF7 HYLS1
17 down syndrome 29.9 MTRR MTR MTHFR AFP
18 alobar holoprosencephaly 29.7 SIX3 SHH
19 myelomeningocele 29.3 VANGL2 VANGL1 SLC25A32 SCRIB PRICKLE1 MTRR
20 anencephaly and spina bifida x-linked 11.2
21 aprosencephaly and cerebellar dysgenesis 11.1
22 encephalocele 11.1
23 hydrolethalus syndrome 2 11.0
24 genitourinary and/or brain malformation syndrome 11.0
25 iniencephaly 11.0
26 encephalocele anencephaly 11.0
27 acalvaria 11.0
28 aprosencephaly/atelencephaly spectrum 10.9
29 medeira-dennis-donnai syndrome 10.9
30 schisis association 10.9
31 cerebellar agenesis 10.9
32 hyperthermia induced defects 10.9
33 isolated exencephaly 10.5 VANGL2 MTHFR
34 spinal cord lipoma 10.4 VANGL1 AFP
35 methylmalonic aciduria and homocystinuria type cblg 10.4 MTRR MTR
36 methylmalonic aciduria and homocystinuria type cble 10.4 MTRR MTR
37 sudden sensorineural hearing loss 10.4 MTR MTHFR
38 nondisjunction 10.4 MTRR MTHFR
39 homocystinuria due to deficiency of n -methylenetetrahydrofolate reductase activity 10.4 MTR MTHFR
40 ophthalmia neonatorum 10.4 MTRR MTR
41 methotrexate toxicity 10.4 MTRR MTR MTHFR
42 choline deficiency disease 10.4 MTR MTHFR MTHFD1
43 cutis laxa, autosomal dominant 3 10.4 MTR MTHFR MTHFD1
44 ocular motility disease 10.4 VANGL2 VANGL1 CELSR1
45 intracranial vasospasm 10.4 MTR MTHFR
46 cutis laxa, autosomal dominant 2 10.3 MTR MTHFR MTHFD1
47 vitamin metabolic disorder 10.3 MTRR MTR MTHFR
48 homocystinuria 10.3 MTRR MTR MTHFR
49 vitamin b12 deficiency 10.3 MTRR MTR MTHFR
50 total spina bifida aperta 10.3 VANGL2 VANGL1 MTHFR MTHFD1

Graphical network of the top 20 diseases related to Anencephaly:

Diseases related to Anencephaly

Symptoms & Phenotypes for Anencephaly

Human phenotypes related to Anencephaly:

58 31
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 primary adrenal insufficiency 58 31 hallmark (90%) Very frequent (99-80%) HP:0008207
2 anencephaly 58 31 hallmark (90%) Very frequent (99-80%) HP:0002323
3 spina bifida 31 HP:0002414

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
Neurologic Central Nervous System:
neural tube defect

Clinical features from OMIM®:

206500 (Updated 20-May-2021)

MGI Mouse Phenotypes related to Anencephaly:

46 (show all 15)
# Description MGI Source Accession Score Top Affiliating Genes
1 growth/size/body region MP:0005378 10.37 CELSR1 FOLR1 FOXN1 HYLS1 KIF7 MTHFD1
2 embryo MP:0005380 10.36 CELSR1 FOLR1 FOXN1 HYLS1 KIF7 MTHFD1
3 mortality/aging MP:0010768 10.36 AFP CELSR1 FOLR1 FOXN1 HYLS1 KIF7
4 cardiovascular system MP:0005385 10.29 FOLR1 FOXN1 HYLS1 KIF7 MTHFD1 PARD3
5 limbs/digits/tail MP:0005371 10.23 CELSR1 FOLR1 HYLS1 KIF7 MTHFD1 MTHFR
6 nervous system MP:0003631 10.21 CELSR1 FOLR1 FOXN1 KIF7 MTHFD1 MTHFR
7 craniofacial MP:0005382 10.19 CELSR1 FOLR1 KIF7 PRICKLE1 SCRIB SHH
8 hearing/vestibular/ear MP:0005377 10.08 CELSR1 FOLR1 FOXN1 PRICKLE1 SCRIB SHH
9 digestive/alimentary MP:0005381 10.07 FOLR1 KIF7 PRICKLE1 SCRIB SHH SIX3
10 reproductive system MP:0005389 9.96 AFP CELSR1 FOLR1 FOXN1 KIF7 MTHFR
11 neoplasm MP:0002006 9.88 AFP FOLR1 FOXN1 PARD3 SCRIB SHH
12 no phenotypic analysis MP:0003012 9.87 KIF7 MTHFR PARD3 PRICKLE1 SCRIB SHH
13 respiratory system MP:0005388 9.76 CELSR1 KIF7 PRICKLE1 SCRIB SHH SIX3
14 skeleton MP:0005390 9.7 CELSR1 FOXN1 HYLS1 KIF7 MTHFR PRICKLE1
15 vision/eye MP:0005391 9.36 CELSR1 FOLR1 FOXN1 KIF7 MTHFR PARD3

Drugs & Therapeutics for Anencephaly

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

(show all 23)
# Name Status Phase Clinical Trials Cas Number PubChem Id
Salmon calcitonin Approved, Investigational Phase 2 47931-85-1 16129616
Erenumab Approved, Investigational Phase 2 1582205-90-0
Calcitonin gene-related peptide Investigational Phase 2 83652-28-2
4 Katacalcin Phase 2
5 calcitonin Phase 2
6 Analgesics Phase 2
Capsaicin Approved Phase 1 404-86-4 1548943
8 Pharmaceutical Solutions Phase 1
9 Dermatologic Agents Phase 1
Levoleucovorin Approved, Investigational 68538-85-2 149436
Triamcinolone Approved, Vet_approved 124-94-7 31307
Folic acid Approved, Nutraceutical, Vet_approved 59-30-3 6037
13 Micronutrients
14 Trace Elements
15 Nutrients
16 Vitamin B Complex
17 Folate
18 Hematinics
19 Vitamins
20 Vitamin B9
21 Triamcinolone diacetate
22 Triamcinolone hexacetonide
23 triamcinolone acetonide

Interventional clinical trials:

# Name Status NCT ID Phase Drugs
1 Erenumab For Treatment of Hemicrania Continua Not yet recruiting NCT04303845 Phase 2 Erenumab
2 The Pain Biomarker Study: Changes in Circulating Pain Signalling Molecules With Activation of Pain Receptors Active, not recruiting NCT03511846 Phase 1 Oral capsaicin;Topical capsaicin;Intranasal capsaicin;Low Flow Oxygen;High Flow Oxygen
3 Genetics of Neural Tubes Defects Unknown status NCT01253746
4 The Spina Bifida Research Resource Unknown status NCT00031122
5 The Hereditary Basis of Neural Tube Defects Completed NCT00636233
6 Blood Folate and Homocysteine Levels Following Administration of Folic Acid According to Different Daily Dosing Schedules:a Simulation of Food Fortification Completed NCT00207558 folic acid
7 Dosage Effects of Folic Acid on Blood Folates of Honduran Women Completed NCT00207532 folic acid
8 The Will Erwin Headache Research Center Study of Cluster Headache and Trigeminal Neuralgia Recruiting NCT02910323

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 29 TRIM36

Anatomical Context for Anencephaly

MalaCards organs/tissues related to Anencephaly:

Brain, Spinal Cord, Cerebellum, Pituitary, Heart, Lung, Placenta
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 2277)
# Title Authors PMID Year
A homozygous mutation in TRIM36 causes autosomal recessive anencephaly in an Indian family. 57 6 61
28087737 2017
Major gene is responsible for anencephaly among Iranian Jews. 61 57
7747793 1995
Evidence for a major gene in familial anencephaly. 61 57
2333913 1990
Anencephaly: a vanishing problem in Bedouins? 57 61
2769728 1989
Nonsyndromal anencephaly: possible autosomal recessive variant. 57 61
3728564 1986
Anencephaly with diaphragmatic hernia in sibs. 57 61
458835 1979
Apparently monogenic inheritance of anencephaly and spina bifida in a kindred. 61 57
4939953 1971
Anencephaly in three siblings. 57 61
5813221 1969
Genetics of anencephaly and spina bifida? 57 61
4175169 1968
Thrice recurring anencephalus. 61 57
13956214 1963
Empiric risk, genetic counseling and preventive measures in anencephaly. 61 57
13933484 1962
Anencephaly in a mono-amniotic twin. 61 57
14037284 1961
Repeat anencephaly. 61 57
13573288 1958
Anencephaly in four consecutive pregnancies; report of a case. 61 57
13501272 1958
Genetics of anencephaly. 61 57
13491996 1957
20319161 1933
A homozygous truncating mutation in PUS3 expands the role of tRNA modification in normal cognition. 6
27055666 2016
Prenatal folic acid treatment suppresses acrania and meroanencephaly in mice mutant for the Cart1 homeobox gene. 57
8673125 1996
Hereditary disorders among Iranian Jews. 57
7573153 1995
Cartilage homeoprotein 1, a homeoprotein selectively expressed in chondrocytes. 57
7690966 1993
Monozygotic anencephalic twins. 57
13836518 1960
Anencephalic twins with rupture of the uterus. 57
13002872 1952
Neural tube defects in the sample of genetic counselling. 54 61
17602445 2007
Neural tube defects and folate pathway genes: family-based association tests of gene-gene and gene-environment interactions. 54 61
17035141 2006
Amniotic fluid homocysteine levels, 5,10-methylenetetrahydrafolate reductase genotypes, and neural tube closure sites. 61 54
10602110 2000
Unconjugated estriol as an indication for prenatal diagnosis of steroid sulfatase deficiency by in situ hybridization. 54 61
9764665 1998
Open neural tube defects: immunocytochemical demonstration of neuroepithelial cells in amniotic fluid. 54 61
9067106 1997
5,10 Methylenetetrahydrofolate reductase genetic polymorphism as a risk factor for neural tube defects. 54 61
8826441 1996
[The alpha-fetoprotein level analysis in open neural tube defects and chromosomal aberrations in the fetus]. 61 54
8657351 1996
Scanning gel densitometry of amniotic fluid acetylcholinesterase and butyrylcholinesterase: quantification of 'faint-positive' bands in fetal malformations. 61 54
7647148 1995
[Contents of alpha-fetoprotein in the blood of pregnant women as a criterion of the presence of congenital heart defects in the fetus]. 54 61
7485753 1995
A comparison of amniotic fluid alpha-fetoprotein and acetylcholinesterase in the prenatal diagnosis of open neural tube defects and anterior abdominal wall defects. 61 54
7681980 1993
High levels of maternal serum alpha-fetoprotein and human chorionic gonadotrophins leading to the diagnosis of combined neural tube defect and partial mole. 54 61
1377390 1992
Amniotic fluid hormone profiles during normal and abnormal pregnancy. 61 54
1280539 1992
Ratio of immunochemically determined amniotic fluid acetylcholinesterase to butyrylcholinesterase in the differential diagnosis of fetal abnormalities. 61 54
1705434 1991
Maternal serum alpha-fetoprotein screening for open neural tube defects in twin pregnancies. 54 61
1692997 1990
Routine first-trimester ultrasound screening using a standardized anatomical protocol. 61
33127430 2021
Birth defects and unconventional natural gas developments in Texas, 1999-2011. 61
33245885 2021
Food Fortification with Folic Acid Prevents Spina Bifida and Anencephaly: A Need for Paradigm Shift in Evidence Evaluation for Policy-Making. 61
33728445 2021
Prevalence of open neural tube defects and risk factors related to isolated anencephaly and spina bifida in live births from the "Dr. Juan I. Menchaca" Civil Hospital of Guadalajara (Jalisco, Mexico). 61
33118203 2021
Comparison of inherited neural tube defects in companion animals and livestock. 61
33615733 2021
Urethral and bladder development during the 2nd gestational trimester applied to the urinary continence mechanism: translational study in human female fetuses with neural tube defects. 61
32902764 2021
Maternal ethnicity and the prevalence of British pregnancies affected by neural tube defects. 61
33754462 2021
Incidence of neural tube defects and their risk factors within a cohort of Moroccan newborn infants. 61
33722213 2021
Birth prevalence of congenital anomalies in Argentina, according to socioeconomic level. 61
33786756 2021
Macrolide and lincosamide antibiotic exposure in the first trimester of pregnancy and risk of congenital anomaly: A European case-control study. 61
33454317 2021
The Global Burden of Neural Tube Defects and Disparities in Neurosurgical Care. 61
33540098 2021
Congenital abnormalities in dead-in-shell chicks associated with mixed bacterial infections. 61
33644481 2021
Burden and consequence of birth defects in Nepal-evidence from prospective cohort study. 61
33588792 2021
Imaging in the presence of meroanencephaly. 61
33343779 2021

Variations for Anencephaly

ClinVar genetic disease variations for Anencephaly:

# Gene Name Type Significance ClinVarId dbSNP ID Position
1 TRIM36 NM_001300759.2(TRIM36):c.1486C>A (p.Pro496Thr) SNV Pathogenic 431166 rs773607884 GRCh37: 5:114469569-114469569
GRCh38: 5:115133872-115133872
2 HYLS1 , PUS3 NM_031307.4(PUS3):c.838C>T (p.Arg280Ter) SNV Likely pathogenic 978657 GRCh37: 11:125765225-125765225
GRCh38: 11:125895330-125895330
3 HYLS1 , PUS3 NM_031307.4(PUS3):c.340T>C (p.Cys114Arg) SNV Likely pathogenic 978659 GRCh37: 11:125765840-125765840
GRCh38: 11:125895945-125895945

UniProtKB/Swiss-Prot genetic disease variations for Anencephaly:

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

Expression for Anencephaly

Search GEO for disease gene expression data for Anencephaly.

Pathways for Anencephaly

Pathways related to Anencephaly according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
Show member pathways
Show member pathways
Show member pathways
5 10.73 MTRR MTR
Show member pathways
10.65 SHH KIF7
Show member pathways

GO Terms for Anencephaly

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

(show all 20)
# Name GO ID Score Top Affiliating Genes
1 multicellular organism development GO:0007275 10.02 VANGL2 VANGL1 SIX3 SHH SCRIB FOXN1
2 heart looping GO:0001947 9.67 VANGL2 SHH FOLR1
3 Wnt signaling pathway, planar cell polarity pathway GO:0060071 9.62 VANGL2 VANGL1 PRICKLE1 CELSR1
4 cobalamin metabolic process GO:0009235 9.59 MTRR MTR
5 establishment or maintenance of epithelial cell apical/basal polarity GO:0045197 9.58 SCRIB PARD3
6 somite development GO:0061053 9.58 SHH MTHFD1
7 cellular amino acid biosynthetic process GO:0008652 9.58 MTRR MTR MTHFD1
8 axon regeneration GO:0031103 9.57 MTR FOLR1
9 establishment of planar polarity GO:0001736 9.56 VANGL2 CELSR1
10 apical protein localization GO:0045176 9.55 VANGL2 CELSR1
11 tetrahydrofolate interconversion GO:0035999 9.54 MTHFR MTHFD1
12 hair follicle development GO:0001942 9.54 SHH FOXN1 CELSR1
13 homocysteine metabolic process GO:0050667 9.52 MTRR MTHFR
14 folic acid transport GO:0015884 9.51 SLC25A32 FOLR1
15 telencephalon regionalization GO:0021978 9.46 SIX3 SHH
16 methionine biosynthetic process GO:0009086 9.46 MTRR MTR MTHFR MTHFD1
17 sulfur amino acid metabolic process GO:0000096 9.43 MTRR MTR
18 methionine metabolic process GO:0006555 9.43 MTRR MTHFR MTHFD1
19 neural tube closure GO:0001843 9.43 VANGL2 SCRIB PRICKLE1 MTHFR MTHFD1 CELSR1
20 folic acid metabolic process GO:0046655 9.02 SLC25A32 MTRR MTHFR MTHFD1 FOLR1

Sources for Anencephaly

9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
31 HPO
32 ICD10
33 ICD10 via Orphanet
37 LifeMap
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 20-May-2021)
61 PubMed
69 Tocris
71 UMLS via Orphanet
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