MCID: ALP014
MIFTS: 54

Alpha-Thalassemia/mental Retardation Syndrome malady

Categories: Genetic diseases, Neuronal diseases, Reproductive diseases, Endocrine diseases, Fetal diseases, Blood diseases, Rare diseases, Mental diseases

Aliases & Classifications for Alpha-Thalassemia/mental Retardation Syndrome

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Sources:
50OMIM, 25GTR, 12diseasecard, 37MeSH, 52Orphanet, 68UniProtKB/Swiss-Prot, 48Novoseek, 66UMLS, 29ICD10 via Orphanet, 67UMLS via Orphanet, 35MedGen, 62The Human Phenotype Ontology
See all MalaCards sources

Aliases & Descriptions for Alpha-Thalassemia/mental Retardation Syndrome:

Name: Alpha-Thalassemia/mental Retardation Syndrome 50 25 12
Atr-X Syndrome 52 68 48
Atr-X 68 25
Alpha-Thalassemia/mental Retardation Syndrome, Nondeletion Type, X-Linked 66
Alpha-Thalassemia/mental Retardation Syndrome Non-Deletion Type X-Linked 68
Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome 52
 
Alpha-Thalassemia/mental Retardation Syndrome, X-Linked 50
Alpha-Thalassemia Mental Retardation Syndrome, X-Linked 68
Alpha Thalassemia-Mental Retardation Syndrome 66
Mental Retardation, X-Linked 37
Atr Nondeletion Type 68
Atrx 68

Characteristics:

Orphanet epidemiological data:

52
atr-x syndrome:
Inheritance: X-linked recessive; Age of onset: Infancy,Neonatal

HPO:

62
alpha-thalassemia/mental retardation syndrome:
Inheritance: x-linked dominant inheritance
Onset and clinical course: phenotypic variability


Classifications:



External Ids:

OMIM50 301040
Orphanet52 ORPHA847
ICD10 via Orphanet29 D56.0
UMLS via Orphanet67 C1845055
MedGen35 C1845055
MeSH37 D038901

Summaries for Alpha-Thalassemia/mental Retardation Syndrome

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UniProtKB/Swiss-Prot:68 Alpha-thalassemia mental retardation syndrome, X-linked: A disorder characterized by severe psychomotor retardation, facial dysmorphism, urogenital abnormalities, and alpha-thalassemia. An essential phenotypic trait are hemoglobin H erythrocyte inclusions.

MalaCards based summary: Alpha-Thalassemia/mental Retardation Syndrome, also known as atr-x syndrome, is related to mental retardation-hypotonic facies syndrome, x-linked and mental retardation, x-linked, syndromic 15, and has symptoms including cryptorchidism, male pseudohermaphroditism and ambiguous genitalia. An important gene associated with Alpha-Thalassemia/mental Retardation Syndrome is ATRX (ATRX, Chromatin Remodeler), and among its related pathways are BRCA1 Pathway and Regulation of Telomerase. Affiliated tissues include eye, tongue and kidney, and related mouse phenotypes are neoplasm and cellular.

Wikipedia:69 Alpha-thalassemia mental retardation syndrome (ATRX), also called alpha-thalassemia X-linked mental... more...

Description from OMIM:50 301040

Related Diseases for Alpha-Thalassemia/mental Retardation Syndrome

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Diseases related to Alpha-Thalassemia/mental Retardation Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50)    (show all 68)
idRelated DiseaseScoreTop Affiliating Genes
1mental retardation-hypotonic facies syndrome, x-linked26.7ATRX, HELLS, NBN, PQBP1, PRKDC, RPA1
2mental retardation, x-linked, syndromic 1512.5
3mental retardation, x-linked 29 and others12.5
4mental retardation, x-linked syndromic, nascimento-type12.5
5mental retardation, x-linked, with isolated growth hormone deficiency12.5
6mental retardation, x-linked, syndromic 1312.5
7mental retardation, x-linked syndromic, turner type12.4
8mental retardation, x-linked, with cerebellar hypoplasia and distinctive facial appearance12.4
9mental retardation, x-linked syndromic, raymond type12.4
10mental retardation, x-linked syndromic, lubs type12.4
11alpha-thalassemia/mental retardation syndrome, chromosome 16-related12.4
12mental retardation, x-linked 9912.4
13mental retardation, x-linked 12/3512.4
14mental retardation, x-linked, fraxe type12.4
15mental retardation, x-linked, syndromic 3212.4
16mental retardation, x-linked 312.4
17mental retardation, x-linked, syndromic, martin-probst type12.4
18mental retardation, x-linked 9212.4
19mental retardation, x-linked 9612.4
20mental retardation, x-linked, syndromic, claes-jensen type12.4
21mental retardation, x-linked 30/4712.4
22mental retardation, x-linked syndromic, christianson type12.4
23mental retardation, x-linked, syndromic, hedera type12.4
24mental retardation, x-linked 10212.4
25mental retardation, x-linked 9812.4
26mental retardation, x-linked 9712.4
27mental retardation, x-linked 10112.4
28mental retardation, x-linked, syndromic, wu type12.4
29mental retardation, x-linked 10012.3
30mental retardation, x-linked, syndromic, 3312.3
31mental retardation, x-linked syndromic 512.3
32mental retardation, x-linked, snyder-robinson type12.2
33mental retardation, x-linked, syndromic 1712.2
34mental retardation, x-linked, syndromic, wilson-turner type12.2
35mental retardation, x-linked, syndromic 912.2
36mental retardation, x-linked, syndromic, chudley-schwartz type12.2
37mental retardation, x-linked, with growth hormone deficiency12.2
38mental retardation, x-linked, with short stature, small testes, muscle wasting, and tremor12.2
39mental retardation, x-linked 4912.1
40mental retardation, x-linked 7312.1
41mental retardation, x-linked 5012.1
42mental retardation, x-linked 5312.1
43mental retardation, x-linked 2312.1
44mental retardation, x-linked 4212.1
45mental retardation, x-linked, with craniofacial dysmorphism12.1
46mental retardation x-linked dysmorphism12.1
47mental retardation x-linked, south african type12.1
48alpha-thalassemia x-linked intellectual disability syndrome11.6
49endometriosis10.9
50thalassemia10.8

Graphical network of the top 20 diseases related to Alpha-Thalassemia/mental Retardation Syndrome:



Diseases related to alpha-thalassemia/mental retardation syndrome

Symptoms for Alpha-Thalassemia/mental Retardation Syndrome

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Symptoms by clinical synopsis from OMIM:

301040

Clinical features from OMIM:

301040

Symptoms:

 52 (show all 57)
  • recurrent urinary tract infections
  • cryptorchidism
  • male pseudohermaphroditism
  • ambiguous genitalia
  • abnormality of the kidney
  • hydronephrosis
  • macroglossia
  • abnormality of the teeth
  • thick lower lip vermilion
  • everted lower lip vermilion
  • microcephaly
  • abnormality of the face
  • epicanthus
  • hypertelorism
  • sensorineural hearing impairment
  • depressed nasal ridge
  • anteverted nares
  • telecanthus
  • myopia
  • blindness
  • optic atrophy
  • behavioral abnormality
  • depression
  • autism
  • brachydactyly syndrome
  • intellectual disability
  • seizures
  • muscular hypotonia
  • spastic paraplegia
  • agenesis of corpus callosum
  • flexion contracture
  • joint stiffness
  • death in infancy
  • talipes equinovarus
  • anemia
  • nausea and vomiting
  • constipation
  • gastroesophageal reflux
  • cerebral cortical atrophy
  • aganglionic megacolon
  • dysphasia
  • encephalitis
  • volvulus
  • clinodactyly of the 5th finger
  • short stature
  • hypoplasia of penis
  • feeding difficulties in infancy
  • abnormality of the male genitalia
  • tented upper lip vermilion
  • u-shaped upper lip vermilion
  • abnormality of fontanelles
  • midface retrusion
  • abnormal hemoglobin
  • flat face
  • profound global developmental delay
  • abnormality of movement
  • self-injurious behavior

HPO human phenotypes related to Alpha-Thalassemia/mental Retardation Syndrome:

(show all 90)
id Description Frequency HPO Source Accession
1 cryptorchidism hallmark (90%) HP:0000028
2 male pseudohermaphroditism hallmark (90%) HP:0000037
3 ambiguous genitalia hallmark (90%) HP:0000062
4 abnormality of the fontanelles or cranial sutures hallmark (90%) HP:0000235
5 microcephaly hallmark (90%) HP:0000252
6 malar flattening hallmark (90%) HP:0000272
7 hypertelorism hallmark (90%) HP:0000316
8 neurological speech impairment hallmark (90%) HP:0002167
9 cognitive impairment hallmark (90%) HP:0100543
10 abnormality of the tongue typical (50%) HP:0000157
11 thick lower lip vermilion typical (50%) HP:0000179
12 everted lower lip vermilion typical (50%) HP:0000232
13 malar flattening typical (50%) HP:0000272
14 epicanthus typical (50%) HP:0000286
15 depressed nasal ridge typical (50%) HP:0000457
16 anteverted nares typical (50%) HP:0000463
17 telecanthus typical (50%) HP:0000506
18 autism typical (50%) HP:0000717
19 seizures typical (50%) HP:0001250
20 muscular hypotonia typical (50%) HP:0001252
21 talipes typical (50%) HP:0001883
22 short stature typical (50%) HP:0004322
23 hypoplasia of penis typical (50%) HP:0008736
24 abnormality of the heme biosynthetic pathway typical (50%) HP:0010472
25 seizures frequent (33%) HP:0001250
26 recurrent urinary tract infections occasional (7.5%) HP:0000010
27 abnormality of the kidney occasional (7.5%) HP:0000077
28 abnormality of the teeth occasional (7.5%) HP:0000164
29 sensorineural hearing impairment occasional (7.5%) HP:0000407
30 visual impairment occasional (7.5%) HP:0000505
31 myopia occasional (7.5%) HP:0000545
32 optic atrophy occasional (7.5%) HP:0000648
33 brachydactyly syndrome occasional (7.5%) HP:0001156
34 flexion contracture occasional (7.5%) HP:0001371
35 limitation of joint mobility occasional (7.5%) HP:0001376
36 nausea and vomiting occasional (7.5%) HP:0002017
37 constipation occasional (7.5%) HP:0002019
38 cerebral cortical atrophy occasional (7.5%) HP:0002120
39 aganglionic megacolon occasional (7.5%) HP:0002251
40 encephalitis occasional (7.5%) HP:0002383
41 volvulus occasional (7.5%) HP:0002580
42 clinodactyly of the 5th finger occasional (7.5%) HP:0004209
43 hemiplegia/hemiparesis occasional (7.5%) HP:0004374
44 aplasia/hypoplasia of the corpus callosum occasional (7.5%) HP:0007370
45 feeding difficulties in infancy occasional (7.5%) HP:0008872
46 abnormality of movement occasional (7.5%) HP:0100022
47 self-injurious behavior occasional (7.5%) HP:0100716
48 cryptorchidism HP:0000028
49 hypospadias HP:0000047
50 shawl scrotum HP:0000049
51 micropenis HP:0000054
52 renal agenesis HP:0000104
53 hydronephrosis HP:0000126
54 macroglossia HP:0000158
55 thick lower lip vermilion HP:0000179
56 microcephaly HP:0000252
57 malar flattening HP:0000272
58 epicanthus HP:0000286
59 hypertelorism HP:0000316
60 posteriorly rotated ears HP:0000358
61 low-set ears HP:0000369
62 sensorineural hearing impairment HP:0000407
63 anteverted nares HP:0000463
64 tapered finger HP:0001182
65 intellectual disability HP:0001249
66 spasticity HP:0001257
67 global developmental delay HP:0001263
68 umbilical hernia HP:0001537
69 widely-spaced maxillary central incisors HP:0001566
70 talipes equinovarus HP:0001762
71 abnormality of metabolism/homeostasis HP:0001939
72 constipation HP:0002019
73 gastroesophageal reflux HP:0002020
74 cerebral atrophy HP:0002059
75 coxa valga HP:0002673
76 absent frontal sinuses HP:0002688
77 kyphoscoliosis HP:0002751
78 hemivertebrae HP:0002937
79 short nose HP:0003196
80 hypochromic microcytic anemia HP:0004840
81 depressed nasal bridge HP:0005280
82 microtia HP:0008551
83 postnatal growth retardation HP:0008897
84 infantile muscular hypotonia HP:0008947
85 radial deviation of finger HP:0009466
86 u-shaped upper lip vermilion HP:0010806
87 protruding tongue HP:0010808
88 perimembranous ventricular septal defect HP:0011682
89 reduced alpha/beta synthesis ratio HP:0011907
90 clinodactyly HP:0030084

UMLS symptoms related to Alpha-Thalassemia/mental Retardation Syndrome:


constipation

Drugs & Therapeutics for Alpha-Thalassemia/mental Retardation Syndrome

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Interventional clinical trials:

Search ClinicalTrials, NIH Clinical Center for Alpha-Thalassemia/mental Retardation Syndrome


Cochrane evidence based reviews: mental retardation, x-linked

Genetic Tests for Alpha-Thalassemia/mental Retardation Syndrome

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Genetic tests related to Alpha-Thalassemia/mental Retardation Syndrome:

id Genetic test Affiliating Genes
1 Atr-X Syndrome25
2 Alpha Thalassemia-Mental Retardation Syndrome25

Anatomical Context for Alpha-Thalassemia/mental Retardation Syndrome

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MalaCards organs/tissues related to Alpha-Thalassemia/mental Retardation Syndrome:

34
Eye, Tongue, Kidney

Animal Models for Alpha-Thalassemia/mental Retardation Syndrome or affiliated genes

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MGI Mouse Phenotypes related to Alpha-Thalassemia/mental Retardation Syndrome:

39
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00020068.0NBN, PRKDC, RPA1, XRCC5
2MP:00053846.9ATRX, HELLS, NBN, PRKDC, RPA1, XRCC5

Publications for Alpha-Thalassemia/mental Retardation Syndrome

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Articles related to Alpha-Thalassemia/mental Retardation Syndrome:

(show all 21)
idTitleAuthorsYear
1
A novel missense mutation in ATRX uncovered in a Yemeni family leads to alpha-thalassemia/mental retardation syndrome without alpha-thalassemia. (26860117)
2016
2
Alpha thalassemia/mental retardation syndrome X-linked gene product ATRX is required for proper replication restart and cellular resistance to replication stress. (23329831)
2013
3
First case of dizygous twins with X-linked alpha-thalassemia/mental retardation syndrome showing wide clinical variability. (20500465)
2010
4
Decreased expression of GRAF1/OPHN-1-L in the X-linked alpha thalassemia mental retardation syndrome. (20602808)
2010
5
X-linked alpha-thalassemia/mental retardation syndrome]. (19489441)
2009
6
Phenotype-genotype characterization of alpha-thalassemia mental retardation syndrome due to isolated monosomy of 16p13.3. (18076105)
2008
7
Alpha-thalassemia/mental retardation syndrome in a 45,X male. (15633163)
2005
8
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. (16100724)
2005
9
Alpha-thalassemia/mental retardation syndrome, X-Linked (ATR-X, MIM #301040, ATR-X/XNP/XH2 gene MIM #300032). (12032728)
2002
10
Molecular genetic study of Japanese patients with X-linked alpha- thalassemia/mental retardation syndrome (ATR-X). (10995512)
2000
11
A case of X-linked alpha-thalassemia/mental retardation syndrome: analysis of hemoglobin by an automated glycated hemoglobin analyzer. (9363663)
1997
12
A Japanese patient with X-linked alpha-thalassemia/mental retardation syndrome: an additional case report. (8996969)
1996
13
The alpha-thalassemia/mental retardation syndromes. (8606626)
1996
14
Self-induced vomiting in X-linked alpha-thalassemia/mental retardation syndrome. (8967323)
1996
15
Lumping Juberg-Marsidi syndrome and X-linked alpha-thalassemia/mental retardation syndrome? (7726226)
1995
16
Clinical and hematologic aspects of the X-linked alpha-thalassemia/mental retardation syndrome (ATR-X). (7726225)
1995
17
De novo truncation of chromosome 16p and healing with (TTAGGG)n in the alpha-thalassemia/mental retardation syndrome (ATR-16). (8460633)
1993
18
X-linked alpha-thalassemia/mental retardation syndrome. Linkage analysis in a new family further supports localization in proximal Xq. (8166423)
1993
19
Alpha-thalassemia/mental retardation syndrome often confused with other disorders. (1456302)
1992
20
Clinical features and molecular analysis of the alpha thalassemia/mental retardation syndromes. II. Cases without detectable abnormality of the alpha globin complex. (2339705)
1990
21
Clinical features and molecular analysis of the alpha thalassemia/mental retardation syndromes. I. Cases due to deletions involving chromosome band 16p13.3. (2339704)
1990

Variations for Alpha-Thalassemia/mental Retardation Syndrome

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UniProtKB/Swiss-Prot genetic disease variations for Alpha-Thalassemia/mental Retardation Syndrome:

68 (show all 28)
id Symbol AA change Variation ID SNP ID
1ATRXp.Pro190AlaVAR_001226
2ATRXp.Leu192PheVAR_001227
3ATRXp.Cys200SerVAR_001228
4ATRXp.Cys220ArgVAR_001229
5ATRXp.Trp222SerVAR_001230
6ATRXp.Cys243PheVAR_001231
7ATRXp.Arg246CysVAR_001232
8ATRXp.Gly249AspVAR_001233
9ATRXp.His1609ArgVAR_001234
10ATRXp.Cys1614ArgVAR_001235
11ATRXp.Lys1650AsnVAR_001236
12ATRXp.Asp2035ValVAR_001238
13ATRXp.Tyr2084HisVAR_001239
14ATRXp.Tyr2163CysVAR_001241
15ATRXp.Arg246LeuVAR_010914
16ATRXp.Gly175GluVAR_012113
17ATRXp.Asn179SerVAR_012115
18ATRXp.Pro190LeuVAR_012116
19ATRXp.Pro190SerVAR_012117
20ATRXp.Val194IleVAR_012118
21ATRXp.Gln219ProVAR_012119
22ATRXp.Gly249CysVAR_012120
23ATRXp.Val1552PheVAR_012122
24ATRXp.Leu1645SerVAR_012123
25ATRXp.Pro1713SerVAR_012124
26ATRXp.Arg1742LysVAR_012125
27ATRXp.Tyr1847CysVAR_012126
28ATRXp.Thr1621MetVAR_016916

Clinvar genetic disease variations for Alpha-Thalassemia/mental Retardation Syndrome:

5 (show all 17)
id Gene Variation Type Significance SNP ID Assembly Location
1ATRXNM_000489.4(ATRX): c.4826A> G (p.His1609Arg)single nucleotide variantPathogenicrs122445093GRCh37Chr X, 76889184: 76889184
2ATRXNM_000489.4(ATRX): c.4840T> C (p.Cys1614Arg)single nucleotide variantPathogenicrs122445094GRCh37Chr X, 76889170: 76889170
3ATRXNM_000489.4(ATRX): c.4950G> T (p.Lys1650Asn)single nucleotide variantPathogenicrs122445095GRCh37Chr X, 76889060: 76889060
4ATRXNM_000489.4(ATRX): c.6104A> T (p.Asp2035Val)single nucleotide variantPathogenicrs122445096GRCh37Chr X, 76849172: 76849172
5ATRXNM_000489.4(ATRX): c.6250T> C (p.Tyr2084His)single nucleotide variantPathogenicrs122445097GRCh37Chr X, 76829791: 76829791
6ATRXNM_000489.4(ATRX): c.6488A> G (p.Tyr2163Cys)single nucleotide variantPathogenicrs122445098GRCh37Chr X, 76814156: 76814156
7ATRXNM_000489.4(ATRX): c.7156C> T (p.Arg2386Ter)single nucleotide variantPathogenicrs122445099GRCh37Chr X, 76776310: 76776310
8ATRXNM_000489.4(ATRX): c.7162G> T (p.Glu2388Ter)single nucleotide variantPathogenicrs122445100GRCh37Chr X, 76776304: 76776304
9ATRXATRX, IVSAS, T-A, -10single nucleotide variantPathogenic
10ATRXNM_000489.4(ATRX): c.6392G> A (p.Arg2131Gln)single nucleotide variantPathogenicrs122445101GRCh37Chr X, 76814252: 76814252
11ATRXATRX, 751A-Gsingle nucleotide variantPathogenic
12ATRXNM_000489.4(ATRX): c.568C> G (p.Pro190Ala)single nucleotide variantLikely pathogenic, Pathogenicrs122445103GRCh37Chr X, 76944337: 76944337
13ATRXNM_000489.4(ATRX): c.5225G> A (p.Arg1742Lys)single nucleotide variantPathogenicrs122445104GRCh37Chr X, 76875910: 76875910
14ATRXNM_000489.4(ATRX): c.4862C> T (p.Thr1621Met)single nucleotide variantPathogenicrs122445106GRCh37Chr X, 76889148: 76889148
15ATRXNM_000489.4(ATRX): c.109C> T (p.Arg37Ter)single nucleotide variantPathogenicrs122445108GRCh37Chr X, 76972632: 76972632
16ATRXNM_000489.4(ATRX): c.7366_7367delAT (p.Met2456Glufs)deletionLikely pathogenicrs797044723GRCh37Chr X, 76763941: 76763942
17ATRXNM_000489.4(ATRX): c.4626_4631delTGAAGA (p.Asp1542_Glu1543del)deletionLikely pathogenicrs797045406GRCh38Chr X, 77635983: 77635988

Copy number variations for Alpha-Thalassemia/mental Retardation Syndrome from CNVD:

6
id CNVD ID Chromosom Start End Type Gene Symbol CNVD Disease
126455306770000076000000MicrodeletionATR-X Syndrome

Expression for genes affiliated with Alpha-Thalassemia/mental Retardation Syndrome

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Search GEO for disease gene expression data for Alpha-Thalassemia/mental Retardation Syndrome.

Pathways for genes affiliated with Alpha-Thalassemia/mental Retardation Syndrome

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GO Terms for genes affiliated with Alpha-Thalassemia/mental Retardation Syndrome

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Cellular components related to Alpha-Thalassemia/mental Retardation Syndrome according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1pericentric heterochromatinGO:000572110.1ATRX, HELLS
2nonhomologous end joining complexGO:00704199.9PRKDC, XRCC5
3PML bodyGO:00166059.3ATRX, NBN, RPA1
4nuclear chromosome, telomeric regionGO:00007848.1ATRX, NBN, PRKDC, RPA1, XRCC5
5nucleusGO:00056346.7ATRX, HELLS, NBN, PQBP1, PRKDC, RPA1

Biological processes related to Alpha-Thalassemia/mental Retardation Syndrome according to GeneCards Suite gene sharing:

(show all 12)
idNameGO IDScoreTop Affiliating Genes
1DNA damage response, signal transduction by p53 class mediatorGO:003033010.1ATRX, NBN
2positive regulation of telomere maintenanceGO:00322069.8ATRX, NBN
3regulation of smooth muscle cell proliferationGO:00486609.8PRKDC, XRCC5
4double-strand break repair via homologous recombinationGO:00007249.7NBN, RPA1
5positive regulation of type I interferon productionGO:00324819.5PRKDC, XRCC5
6DNA methylationGO:00063069.3ATRX, HELLS
7DNA duplex unwindingGO:00325089.2ATRX, NBN, XRCC5
8double-strand break repairGO:00063029.1NBN, PRKDC, XRCC5
9double-strand break repair via nonhomologous end joiningGO:00063039.1NBN, PRKDC, XRCC5
10DNA recombinationGO:00063109.0ATRX, RPA1, XRCC5
11cell proliferationGO:00082838.8NBN, PRKDC, XRCC5
12telomere maintenanceGO:00007238.8NBN, RPA1, XRCC5

Molecular functions related to Alpha-Thalassemia/mental Retardation Syndrome according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1helicase activityGO:00043869.6ATRX, HELLS
2ATP-dependent DNA helicase activityGO:00040039.4NBN, XRCC5
3double-stranded DNA bindingGO:00036909.0PRKDC, XRCC5
4damaged DNA bindingGO:00036848.7NBN, RPA1, XRCC5

Sources for Alpha-Thalassemia/mental Retardation Syndrome

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
25GTR
26HGMD
27HMDB
28ICD10
29ICD10 via Orphanet
30ICD9CM
31IUPHAR
32KEGG
35MedGen
37MeSH
38MESH via Orphanet
39MGI
42NCI
43NCIt
44NDF-RT
47NINDS
48Novoseek
50OMIM
51OMIM via Orphanet
55PubMed
56QIAGEN
61SNOMED-CT via Orphanet
65Tumor Gene Family of Databases
66UMLS
67UMLS via Orphanet