MCID: ALP095
MIFTS: 36

Alpha Thalassemia-X-Linked Intellectual Disability Syndrome

Categories: Genetic diseases, Rare diseases

Aliases & Classifications for Alpha Thalassemia-X-Linked Intellectual Disability Syndrome

MalaCards integrated aliases for Alpha Thalassemia-X-Linked Intellectual Disability Syndrome:

Name: Alpha Thalassemia-X-Linked Intellectual Disability Syndrome 12 15
Atrx Syndrome 24 52 25
Alpha-Thalassemia X-Linked Intellectual Disability Syndrome 24 52
Alpha-Thalassemia X-Linked Mental Retardation Syndrome 25 29
Atr, Nondeletion Type 12 52
Atr-X Syndrome 12 25
Alpha Thalassemia Intellectual Disability Syndrome, Nondeletion Type, X-Linked 52
Alpha-Thalassemia/mental Retardation Syndrome, Nondeletion Type, X-Linked 71
Alpha-Thalassemia/mental Retardation Syndrome, Nondeletion Type 25
Alpha-Thalassemia/mental Retardation Syndrome Nondeletion Type 12
X-Linked Alpha-Thalassemia/intellectual Disability Syndrome 52
Alpha Thalassemia X-Linked Intellectual Disability Syndrome 25
Alpha Thalassemia X-Linked Mental Retardation Syndrome 25
X-Linked Alpha-Thalassemia/mental Retardation Syndrome 25
Alpha Thalassemia / Mental Retardation, X-Linked 24
Alpha Thalassemia/mental Retardation, X-Linked 25
Xlmr Hypotonic Face Syndrome 52
Xlmr-Hypotonic Face Syndrome 25

Characteristics:

GeneReviews:

24
Penetrance Penetrance is presumed to be 100% in males as atrx pathogenic variants have not been reported in normal males.

Classifications:



External Ids:

Disease Ontology 12 DOID:0110030
ICD10 32 D56.0
UMLS 71 C1845055

Summaries for Alpha Thalassemia-X-Linked Intellectual Disability Syndrome

Genetics Home Reference : 25 Alpha thalassemia X-linked intellectual disability syndrome is an inherited disorder that affects many parts of the body. This condition occurs almost exclusively in males. Males with alpha thalassemia X-linked intellectual disability syndrome have intellectual disability and delayed development. Their speech is significantly delayed, and most never speak or sign more than a few words. Most affected children have weak muscle tone (hypotonia), which delays motor skills such as sitting, standing, and walking. Some people with this disorder are never able to walk independently. Almost everyone with alpha thalassemia X-linked intellectual disability syndrome has distinctive facial features, including widely spaced eyes, a small nose with upturned nostrils, and low-set ears. The upper lip is shaped like an upside-down "V," and the lower lip tends to be prominent. These facial characteristics are most apparent in early childhood. Over time, the facial features become coarser, including a flatter face with a shortened nose. Most affected individuals have mild signs of a blood disorder called alpha thalassemia. This disorder reduces the production of hemoglobin, which is the protein in red blood cells that carries oxygen to cells throughout the body. A reduction in the amount of hemoglobin prevents enough oxygen from reaching the body's tissues. Rarely, affected individuals also have a shortage of red blood cells (anemia), which can cause pale skin, weakness, and fatigue. Additional features of alpha thalassemia X-linked intellectual disability syndrome include an unusually small head size (microcephaly), short stature, and skeletal abnormalities. Many affected individuals have problems with the digestive system, such as a backflow of stomach acids into the esophagus (gastroesophageal reflux) and chronic constipation. Genital abnormalities are also common; affected males may have undescended testes and the opening of the urethra on the underside of the penis (hypospadias). In more severe cases, the external genitalia do not look clearly male or female (ambiguous genitalia).

MalaCards based summary : Alpha Thalassemia-X-Linked Intellectual Disability Syndrome, also known as atrx syndrome, is related to alacrima, achalasia, and mental retardation syndrome and alpha-thalassemia, and has symptoms including constipation An important gene associated with Alpha Thalassemia-X-Linked Intellectual Disability Syndrome is ATRX (ATRX Chromatin Remodeler), and among its related pathways/superpathways are Activated PKN1 stimulates transcription of AR (androgen receptor) regulated genes KLK2 and KLK3 and AMPK Enzyme Complex Pathway. Affiliated tissues include eye, skin and testes, and related phenotypes are growth/size/body region and embryo

Disease Ontology : 12 An alpha thalassemia that has material basis in mutation in the ATRX gene on Xq21.

NIH Rare Diseases : 52 Alpha-thalassemia x-linked intellectual disability (ATRX) syndrome is a genetic condition that causes intellectual disability, muscle weakness (hypotonia ), short height, a particular facial appearance, genital abnormalities, and possibly other symptoms. It is caused by mutations in the ATRX gene and is inherited in an x-linked way. Treatment includes regular visits to the doctor to monitor growth and intellectual development, early intervention and special education programs, and special formula to help with feeding and nutrition.

GeneReviews: NBK1449

Related Diseases for Alpha Thalassemia-X-Linked Intellectual Disability Syndrome

Diseases related to Alpha Thalassemia-X-Linked Intellectual Disability Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 87)
# Related Disease Score Top Affiliating Genes
1 alacrima, achalasia, and mental retardation syndrome 30.3 MECP2 KDM5C BRWD3 ATRX
2 alpha-thalassemia 29.8 SMARCA4 SMARCA2 H2AC18 ERCC6 EPPIN DNMT3L
3 alpha-thalassemia/mental retardation syndrome, x-linked 12.1
4 thalassemia 10.4
5 schizophrenia 7 10.4 SMARCA2 H2AC18
6 gastric neuroendocrine neoplasm 10.4 DAXX ATRX
7 alpha thalassemia-intellectual disability syndrome type 1 10.4 DAXX ATRX
8 enamel erosion 10.4 SMARCA4 SMARCA2
9 non-syndromic intellectual disability 10.3 SMARCA4 SMARCA2 H2AC18
10 hypogonadism 10.3
11 hypogonadotropism 10.3
12 syndromic intellectual disability 10.3 MECP2 H2AC18 ATRX
13 testicular disease 10.3 H2AC18 ERCC6 EPPIN
14 telecanthus 10.3
15 global developmental delay, absent or hypoplastic corpus callosum, and dysmorphic facies 10.3
16 hypospadias 10.3
17 meningococcal infection 10.3
18 hypotonia 10.3
19 immunodeficiency-centromeric instability-facial anomalies syndrome 1 10.3 MECP2 CBX5
20 tooth erosion 10.3 SMARCA4 SMARCA2
21 rhabdoid cancer 10.3 SMARCA4 SMARCA2 H2AC18
22 volvulus of midgut 10.2
23 autism x-linked 2 10.2
24 mental retardation-hypotonic facies syndrome, x-linked, 1 10.2
25 root caries 10.2 SMARCA4 SMARCA2
26 congenital nervous system abnormality 10.2 MECP2 H2AC18 ERCC6
27 schimke immunoosseous dysplasia 10.2 SMARCA4 SMARCA2 SMARCA1
28 adult oligodendroglioma 10.2 H3-3A ATRX
29 childhood oligodendroglioma 10.2 H3-3A ATRX
30 hutchinson-gilford progeria syndrome 10.2 H3-2 H2AC18 ERCC6
31 physical disorder 10.2 MECP2 H2AC18 ERCC6
32 testicular spermatocytic seminoma 10.2 DNMT3L DNMT3A
33 osteogenic sarcoma 10.2
34 aspiration pneumonia 10.2
35 microcephaly 10.2
36 constipation 10.2
37 chromosome 16p13.3 deletion syndrome, proximal 10.2 MECP2 H3-2 H2AC18
38 lung squamous cell carcinoma 10.2
39 endometrioid ovary carcinoma 10.1 SMARCA4 H2AC18
40 chromosomal disease 10.1 MECP2 H2AC18 ERCC6
41 x-linked monogenic disease 10.1 MECP2 H2AC18 ERCC6
42 syndromic x-linked intellectual disability 10.1 MECP2 H2AC18 BRWD3
43 lymphosarcoma 10.1 SMARCA4 DNMT3A
44 fibrillary astrocytoma 10.1 H3-3A H2AC18 ATRX
45 uv-sensitive syndrome 10.1 SMARCA2 SMARCA1 H2AC18 ERCC6
46 adult astrocytic tumour 10.1 H3-3A ATRX
47 multiple endocrine neoplasia, type i 10.1 H2AC18 DAXX ATRX
48 coffin-siris syndrome 4 10.1 SMARCA4 H2AC18
49 neuropathy, hereditary sensory, type ie 10.0 H2AC18 DNMT3L DNMT3A
50 gastroesophageal reflux 10.0

Graphical network of the top 20 diseases related to Alpha Thalassemia-X-Linked Intellectual Disability Syndrome:



Diseases related to Alpha Thalassemia-X-Linked Intellectual Disability Syndrome

Symptoms & Phenotypes for Alpha Thalassemia-X-Linked Intellectual Disability Syndrome

UMLS symptoms related to Alpha Thalassemia-X-Linked Intellectual Disability Syndrome:


constipation

MGI Mouse Phenotypes related to Alpha Thalassemia-X-Linked Intellectual Disability Syndrome:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 growth/size/body region MP:0005378 10.07 ATRX BRWD3 CBX5 DAXX DNMT3A ERCC6
2 embryo MP:0005380 9.97 ATRX BRWD3 DAXX DNMT3A DNMT3L KDM5C
3 mortality/aging MP:0010768 9.77 ATRX CBX5 DAXX DNMT3A DNMT3L ERCC6
4 integument MP:0010771 9.76 ERCC6 KDM5C MACROH2A1 MECP2 OPHN1 SMARCA2
5 normal MP:0002873 9.23 CBX5 DAXX DNMT3L KDM5C MACROH2A1 MECP2

Drugs & Therapeutics for Alpha Thalassemia-X-Linked Intellectual Disability Syndrome

Search Clinical Trials , NIH Clinical Center for Alpha Thalassemia-X-Linked Intellectual Disability Syndrome

Genetic Tests for Alpha Thalassemia-X-Linked Intellectual Disability Syndrome

Genetic tests related to Alpha Thalassemia-X-Linked Intellectual Disability Syndrome:

# Genetic test Affiliating Genes
1 Alpha-Thalassemia X-Linked Mental Retardation Syndrome 29

Anatomical Context for Alpha Thalassemia-X-Linked Intellectual Disability Syndrome

MalaCards organs/tissues related to Alpha Thalassemia-X-Linked Intellectual Disability Syndrome:

40
Eye, Skin, Testes, Brain, Lung, Ovary, Temporal Lobe

Publications for Alpha Thalassemia-X-Linked Intellectual Disability Syndrome

Articles related to Alpha Thalassemia-X-Linked Intellectual Disability Syndrome:

(show top 50) (show all 51)
# Title Authors PMID Year
1
Interaction between chromatin proteins MECP2 and ATRX is disrupted by mutations that cause inherited mental retardation. 61 24
17296936 2007
2
ATRX syndrome in a girl with a heterozygous mutation in the ATRX Zn finger domain and a totally skewed X-inactivation pattern. 61 24
16955409 2006
3
Mutations in PHD-like domain of the ATRX gene correlate with severe psychomotor impairment and severe urogenital abnormalities in patients with ATRX syndrome. 61 24
16813605 2006
4
The ATRX syndrome protein forms a chromatin-remodeling complex with Daxx and localizes in promyelocytic leukemia nuclear bodies. 61 24
12953102 2003
5
Mutational analysis of the ATRX gene by DGGE: a powerful diagnostic approach for the ATRX syndrome. 61 24
12673795 2003
6
Alpha-thalassemia intellectual disability: variable phenotypic expression among males with a recurrent nonsense mutation - c.109C>T (p.R37X). 24
24805811 2015
7
A case report of two brothers with ATR-X syndrome due to low maternal frequency of somatic mosaicism for an intragenic deletion in the ATRX. 24
24898829 2014
8
ATRX partners with cohesin and MeCP2 and contributes to developmental silencing of imprinted genes in the brain. 24
20159591 2010
9
Xq13.2q21.1 duplication encompassing the ATRX gene in a man with mental retardation, minor facial and genital anomalies, short stature and broad thorax. 24
19291773 2009
10
Mutations in the chromatin-associated protein ATRX. 24
18409179 2008
11
Loss of ATRX leads to chromosome cohesion and congression defects. 24
18227278 2008
12
Partial duplications of the ATRX gene cause the ATR-X syndrome. 24
17579672 2007
13
Structural consequences of disease-causing mutations in the ATRX-DNMT3-DNMT3L (ADD) domain of the chromatin-associated protein ATRX. 24
17609377 2007
14
Recurrent infections, hypotonia, and mental retardation caused by duplication of MECP2 and adjacent region in Xq28. 24
17088400 2006
15
Gastrointestinal phenotype of ATR-X syndrome. 24
16688741 2006
16
Asplenia in ATR-X syndrome: a second report. 24
16222662 2005
17
Non-skewed X-inactivation may cause mental retardation in a female carrier of X-linked alpha-thalassemia/mental retardation syndrome (ATR-X): X-inactivation study of nine female carriers of ATR-X. 24
16100724 2005
18
Mutation in the 5' alternatively spliced region of the XNP/ATR-X gene causes Chudley-Lowry syndrome. 24
15508018 2005
19
ATRX and sex differentiation. 24
15350606 2004
20
A novel transcription regulatory complex containing death domain-associated protein and the ATR-X syndrome protein. 24
14990586 2004
21
Syndromes of disordered chromatin remodeling. 24
12859401 2003
22
Expanding phenotype of XNP mutations: mild to moderate mental retardation. 24
12116232 2002
23
Alpha-thalassemia/mental retardation syndrome, X-Linked (ATR-X, MIM #301040, ATR-X/XNP/XH2 gene MIM #300032). 24
12032728 2002
24
Holmes-Gang syndrome is allelic with XLMR-hypotonic face syndrome. 24
11050622 2000
25
A nonsense mutation of the ATRX gene causing mild mental retardation and epilepsy. 24
10632111 2000
26
Splitting and lumping in the nosology of XLMR. 24
11449485 2000
27
Germline and gonosomal mosaicism in the ATR-X syndrome. 24
10602370 1999
28
Mutation of the XNP/ATR-X gene in a family with severe mental retardation, spastic paraplegia and skewed pattern of X inactivation: demonstration that the mutation is involved in the inactivation bias. 24
10417298 1999
29
Carpenter-Waziri syndrome results from a mutation in XNP. 24
10398237 1999
30
Evaluation of a mutation screening strategy for sporadic cases of ATR-X syndrome. 24
10204841 1999
31
Arch fingerprints, hypotonia, and areflexia associated with X linked mental retardation. 24
9192265 1997
32
Mutations in a putative global transcriptional regulator cause X-linked mental retardation with alpha-thalassemia (ATR-X syndrome). 24
7697714 1995
33
Clinical and hematologic aspects of the X-linked alpha-thalassemia/mental retardation syndrome (ATR-X). 24
7726225 1995
34
The expanding phenotypes of cohesinopathies: one ring to rule them all! 61
31516082 2019
35
Mutant ATRX: uncovering a new therapeutic target for glioma. 61
29889582 2018
36
Deciphering the Molecular Effects of Mutations on ATRX Cause ATRX Syndrome: A Molecular Dynamics Study. 61
28294389 2017
37
Exome sequencing in children of women with skewed X-inactivation identifies atypical cases and complex phenotypes. 61
28027854 2017
38
Stalled replication forks within heterochromatin require ATRX for protection. 61
27171262 2016
39
Alpha-thalassemia X-linked intellectual disability syndrome identified by whole exome sequencing in two boys with white matter changes and developmental retardation. 61
25936994 2015
40
Co-inheritance of novel ATRX gene mutation and globin (α & β) gene mutations in transfusion dependent beta-thalassemia patients. 61
25976463 2015
41
The role of MAGT1 in genetic syndromes. 61
26422833 2015
42
Mutations of codon 2085 in the helicase domain of ATRX are recurrent and cause ATRX syndrome. 61
24289169 2014
43
Variant ATRX syndrome with dysfunction of ATRX and MAGT1 genes. 61
24130152 2014
44
ATRX-mediated chromatin association of histone variant macroH2A1 regulates α-globin expression. 61
22391447 2012
45
Role of ATRX in chromatin structure and function: implications for chromosome instability and human disease. 61
21653732 2011
46
Decreased expression of GRAF1/OPHN-1-L in the X-linked alpha thalassemia mental retardation syndrome. 61
20602808 2010
47
ATRX interacts with H3.3 in maintaining telomere structural integrity in pluripotent embryonic stem cells. 61
20110566 2010
48
ATRX marks the inactive X chromosome (Xi) in somatic cells and during imprinted X chromosome inactivation in trophoblast stem cells. 61
19005673 2009
49
ATRX, a member of the SNF2 family of helicase/ATPases, is required for chromosome alignment and meiotic spindle organization in metaphase II stage mouse oocytes. 61
15242786 2004
50
Solution structure of the PHD domain from the KAP-1 corepressor: structural determinants for PHD, RING and LIM zinc-binding domains. 61
11226167 2001

Variations for Alpha Thalassemia-X-Linked Intellectual Disability Syndrome

Expression for Alpha Thalassemia-X-Linked Intellectual Disability Syndrome

Search GEO for disease gene expression data for Alpha Thalassemia-X-Linked Intellectual Disability Syndrome.

Pathways for Alpha Thalassemia-X-Linked Intellectual Disability Syndrome

Pathways related to Alpha Thalassemia-X-Linked Intellectual Disability Syndrome according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.27 SMARCA5 SMARCA4 SMARCA2 MACROH2A1 KDM5C H3-3A
2
Show member pathways
11.79 SMARCA5 SMARCA4 SMARCA2 SMARCA1
3 11.77 SMARCA5 SMARCA4 SMARCA2 SMARCA1 MECP2 MACROH2A1
4
Show member pathways
11.18 SMARCA5 SMARCA4 SMARCA2 SMARCA1

GO Terms for Alpha Thalassemia-X-Linked Intellectual Disability Syndrome

Cellular components related to Alpha Thalassemia-X-Linked Intellectual Disability Syndrome according to GeneCards Suite gene sharing:

(show all 17)
# Name GO ID Score Top Affiliating Genes
1 nucleoplasm GO:0005654 10.13 SMARCA5 SMARCA4 SMARCA2 SMARCA1 MECP2 MACROH2A1
2 nucleus GO:0005634 9.89 SMARCA5 SMARCA4 SMARCA2 SMARCA1 MECP2 MACROH2A1
3 chromosome, centromeric region GO:0000775 9.73 DNMT3A DAXX CBX5
4 PML body GO:0016605 9.71 DAXX CBX5 ATRX
5 nuclear chromosome, telomeric region GO:0000784 9.71 MACROH2A1 H3-3A CBX5 ATRX
6 nucleosome GO:0000786 9.7 MACROH2A1 H3-3A H2AC18
7 chromosome GO:0005694 9.7 MACROH2A1 H3-3A H3-2 H2AC18 DAXX CBX5
8 nuclear chromosome GO:0000228 9.61 MACROH2A1 H3-3A ATRX
9 SWI/SNF complex GO:0016514 9.57 SMARCA4 SMARCA2
10 nBAF complex GO:0071565 9.55 SMARCA4 SMARCA2
11 nuclear heterochromatin GO:0005720 9.54 DNMT3A CBX5 ATRX
12 npBAF complex GO:0071564 9.51 SMARCA4 SMARCA2
13 nuclear pericentric heterochromatin GO:0031618 9.49 CBX5 ATRX
14 NURF complex GO:0016589 9.48 SMARCA5 SMARCA1
15 Barr body GO:0001740 9.46 MACROH2A1 H3-3A
16 pericentric heterochromatin GO:0005721 9.43 MACROH2A1 CBX5 ATRX
17 heterochromatin GO:0000792 8.92 MECP2 DNMT3A CBX5 ATRX

Biological processes related to Alpha Thalassemia-X-Linked Intellectual Disability Syndrome according to GeneCards Suite gene sharing:

(show all 18)
# Name GO ID Score Top Affiliating Genes
1 negative regulation of transcription by RNA polymerase II GO:0000122 10 SMARCA4 SMARCA2 MECP2 MACROH2A1 DNMT3A CBX5
2 positive regulation of transcription, DNA-templated GO:0045893 9.97 SMARCA5 SMARCA4 SMARCA2 SMARCA1 MECP2
3 negative regulation of transcription, DNA-templated GO:0045892 9.91 SMARCA4 SMARCA2 MECP2 KDM5C DNMT3L DAXX
4 neuron differentiation GO:0030182 9.72 SMARCA1 OPHN1 MECP2 ERCC6 DNMT3A
5 multicellular organism growth GO:0035264 9.71 H3-3A ERCC6 ATRX
6 negative regulation of gene expression, epigenetic GO:0045814 9.69 MACROH2A1 H3-3A DNMT3A
7 nucleosome assembly GO:0006334 9.65 SMARCA5 MACROH2A1 H3-3A DAXX ATRX
8 positive regulation of gene expression, epigenetic GO:0045815 9.63 SMARCA5 MACROH2A1 ERCC6
9 DNA methylation GO:0006306 9.61 DNMT3L DNMT3A ATRX
10 chromatin organization GO:0006325 9.61 SMARCA5 SMARCA4 SMARCA1 MACROH2A1 KDM5C H2AC18
11 DNA methylation involved in gamete generation GO:0043046 9.58 DNMT3L DNMT3A
12 regulation of gene expression by genetic imprinting GO:0006349 9.58 MECP2 DNMT3L DNMT3A
13 nucleosome positioning GO:0016584 9.56 SMARCA5 SMARCA1
14 regulation of gene expression, epigenetic GO:0040029 9.55 MECP2 MACROH2A1
15 ATP-dependent chromatin remodeling GO:0043044 9.55 SMARCA5 SMARCA4 SMARCA2 SMARCA1 ERCC6
16 positive regulation of DNA methylation GO:1905643 9.49 MECP2 DNMT3L
17 DNA methylation on cytosine GO:0032776 9.48 DNMT3L DNMT3A
18 chromatin remodeling GO:0006338 9.17 SMARCA5 SMARCA4 SMARCA2 SMARCA1 KDM5C DAXX

Molecular functions related to Alpha Thalassemia-X-Linked Intellectual Disability Syndrome according to GeneCards Suite gene sharing:

(show all 14)
# Name GO ID Score Top Affiliating Genes
1 protein heterodimerization activity GO:0046982 9.92 MACROH2A1 H3-3A H3-2 H2AC18 DAXX
2 transcription factor binding GO:0008134 9.83 SMARCA4 SMARCA1 MECP2 DNMT3A DAXX
3 ATPase activity GO:0016887 9.81 SMARCA5 SMARCA4 SMARCA2 SMARCA1
4 transcription corepressor activity GO:0003714 9.8 SMARCA4 MECP2 DNMT3A DAXX
5 chromatin binding GO:0003682 9.8 SMARCA2 MACROH2A1 ERCC6 DNMT3A CBX5 ATRX
6 DNA binding GO:0003677 9.77 SMARCA5 SMARCA4 SMARCA2 SMARCA1 MECP2 MACROH2A1
7 protein N-terminus binding GO:0047485 9.67 SMARCA4 MECP2 ERCC6 DAXX
8 histone binding GO:0042393 9.65 SMARCA5 SMARCA4 SMARCA2 DAXX ATRX
9 helicase activity GO:0004386 9.63 SMARCA5 SMARCA4 SMARCA2 SMARCA1 ERCC6 ATRX
10 nucleosomal DNA binding GO:0031492 9.58 SMARCA4 MACROH2A1 H3-3A
11 hydrolase activity, acting on acid anhydrides, in phosphorus-containing anhydrides GO:0016818 9.54 SMARCA5 SMARCA1
12 hydrolase activity, acting on acid anhydrides GO:0016817 9.48 SMARCA4 SMARCA2
13 double-stranded methylated DNA binding GO:0010385 9.46 MECP2 MACROH2A1
14 DNA-dependent ATPase activity GO:0008094 9.02 SMARCA5 SMARCA4 SMARCA2 SMARCA1 ERCC6

Sources for Alpha Thalassemia-X-Linked Intellectual Disability Syndrome

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17 EFO
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33 ICD10 via Orphanet
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