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MCID: SDR003
MIFTS: 49

Sideroblastic Anemia

Categories: Blood diseases, Bone diseases, Genetic diseases, Immune diseases, Metabolic diseases, Rare diseases
Genes Tissues Related diseases Publications Pathways Drugs
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Aliases & Classifications for Sideroblastic Anemia

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MalaCards integrated aliases for Sideroblastic Anemia:

Name: Sideroblastic Anemia 12 74 52 58 36 29 15 71
Anemia, Sideroblastic 74 43 39
Anemia Sideroblastic 12 52 54
Anemia, Hypochromic with Iron Loading 12

Characteristics:

Orphanet epidemiological data:

58
sideroblastic anemia
Inheritance: Autosomal dominant,Autosomal recessive,Mitochondrial inheritance,Not applicable,X-linked dominant,X-linked recessive; Age of onset: All ages;

Classifications:

MalaCards categories:
Global: Rare diseases Genetic diseases Metabolic diseases
Anatomical: Blood diseases Bone diseases Immune diseases
See all MalaCards categories (disease lists)
ICD10: 32 33
Orphanet: 58  
Rare haematological diseases


External Ids:

Disease Ontology 12 DOID:8955
KEGG 36 H00982
ICD9CM 34 285.0
MeSH 43 D000756
NCIt 49 C36078
SNOMED-CT 67 41841004
ICD10 32 D64.3
MESH via Orphanet 44 D000756
ICD10 via Orphanet 33 D64.0 D64.1 D64.2 more
UMLS via Orphanet 72 C0002896
Orphanet 58 ORPHA1047
UMLS 71 C0002896
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Summaries for Sideroblastic Anemia

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NIH Rare Diseases : 52 Sideroblastic anemia is a group of blood disorders characterized by an impaired ability of the bone marrow to produce normal red blood cells . In this condition, the iron inside red blood cells is inadequately used to make hemoglobin, despite normal amounts of iron. As a result, iron accumulates in the red blood cells, giving a ringed appearance to the nucleus (ringed sideroblast). The signs and symptoms of this condition may include fatigue, breathing difficulties, weakness, and enlargement of the liver or spleen. There are many potential causes of sideroblastic anemia. Depending on the cause, it can be classified as hereditary (sometimes called congenital ), acquired, and idiopathic (cause unknown). The treatment for this condition differs depending on the underlying cause. If acquired, avoidance and or removal of the toxin or drug can lead to recovery. Vitamin B6 (pyridoxine) may be useful in some circumstances.

MalaCards based summary : Sideroblastic Anemia, also known as anemia, sideroblastic, is related to sideroblastic anemia with b-cell immunodeficiency, periodic fevers, and developmental delay and myopathy, lactic acidosis, and sideroblastic anemia 3. An important gene associated with Sideroblastic Anemia is PUS1 (Pseudouridine Synthase 1), and among its related pathways/superpathways are Porphyrin and chlorophyll metabolism and Iron metabolism in placenta. The drugs Iron and Deferoxamine have been mentioned in the context of this disorder. Affiliated tissues include bone, bone marrow and myeloid, and related phenotypes are Decreased viability and Decreased viability

Disease Ontology : 12 An aplastic anemia where the bone marrow produces ringed sideroblasts rather than healthy red blood cells (erythrocytes).

KEGG : 36 Sideroblastic anemias are a group of disorders characterized by anemia with the emergence of ring sideroblasts in the bone marrow. Inherited sideroblastic anemia is a rare and heterogeneous disease caused by mutations of genes involved in heme biosynthesis, iron-sulfur cluster biogenesis or transport, and mitochondrial metabolism.

Wikipedia : 74 Sideroblastic anemia, or sideroachrestic anemia, is a form of anemia in which the bone marrow produces... more...

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Related Diseases for Sideroblastic Anemia

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Diseases in the Sideroblastic Anemia family:

Anemia, Sideroblastic, 4 Anemia, Sideroblastic, 1
Autosomal Dominant Sideroblastic Anemia 4 Autosomal Recessive Sideroblastic Anemia

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

(show top 50) (show all 198)
# Related Disease Score Top Affiliating Genes
1 sideroblastic anemia with b-cell immunodeficiency, periodic fevers, and developmental delay 35.0 YARS2 TRNT1 PUS1
2 myopathy, lactic acidosis, and sideroblastic anemia 3 34.9 YARS2 PUS1 MT-ATP6
3 myopathy, lactic acidosis, and sideroblastic anemia 1 34.9 YARS2 SLC25A38 PUS1 MT-ATP6
4 myopathy, lactic acidosis, and sideroblastic anemia 2 34.8 YARS2 SLC25A38 PUS1 MT-ATP6
5 autosomal recessive sideroblastic anemia 34.5 SLC25A38 HSPA9
6 myopathy, lactic acidosis, and sideroblastic anemia 34.4 YARS2 PUS1 MT-ATP6
7 anemia, sideroblastic, and spinocerebellar ataxia 33.2 SLC25A38 GLRX5 FXN FECH ALAS2 ACO1
8 pearson marrow-pancreas syndrome 33.2 YARS2 SLC25A38 PUS1 MT-ATP6 GLRX5 ALAS2
9 anemia, sideroblastic, 1 32.3 SLC25A38 PUS1 IREB2 HAMP GLRX5 FXN
10 deficiency anemia 31.7 SLC25A38 IREB2 HAMP ACO1
11 cutaneous porphyria 31.5 UROD FECH ALAS2 ALAS1
12 lactic acidosis 31.1 YARS2 PUS1 MT-CO1 MT-ATP6 LARS2
13 myopathy 30.9 YARS2 SOD2 PUS1 MT-CO1 MT-ATP6 LARS2
14 x-linked protoporphyria 30.9 FECH ALAS2
15 iron metabolism disease 30.8 IREB2 HAMP ACO1
16 microcytic anemia 30.8 IREB2 HAMP GLRX5 ALAS2 ACO1
17 hypochromic microcytic anemia 30.6 SLC25A38 IREB2 HAMP ALAS2 ACO1
18 mitochondrial myopathy 30.4 YARS2 PUS1 MT-CO1 MT-ATP6 LARS2 FXN
19 kearns-sayre syndrome 30.2 PUS1 MT-CO1 MT-ATP6 FXN
20 hemosiderosis 29.6 UROD IREB2 HAMP FXN ALAS2 ACO1
21 beta-thalassemia 29.6 IREB2 HAMP ACO1
22 porphyria 29.3 UROD HAMP FECH ALAS2 ALAS1
23 mitochondrial metabolism disease 29.2 YARS2 SOD2 SLC25A38 PUS1 MT-CO1 MT-ATP6
24 hemochromatosis, type 1 28.9 UROD IREB2 HAMP FXN FECH ALAS2
25 protoporphyria, erythropoietic, 1 28.6 UROD SLC25A38 IREB2 GLRX5 FECH ALAS2
26 autosomal recessive pyridoxine-refractory sideroblastic anemia 2 12.9
27 hydrops, lactic acidosis, and sideroblastic anemia 12.8
28 pyridoxine-responsive sideroblastic anemia 12.6
29 autosomal dominant sideroblastic anemia 4 12.5
30 autosomal recessive pyridoxine-refractory sideroblastic anemia 3 12.5
31 anemia, sideroblastic, 3, pyridoxine-refractory 12.4
32 constitutional sideroblastic anemia 12.3
33 trnt1 deficiency 12.2
34 anemia, sideroblastic, pyridoxine-responsive, autosomal recessive 12.0
35 anemia, sideroblastic, 4 12.0
36 anemia, sideroblastic, 2, pyridoxine-refractory 11.8
37 anemia, hypochromic microcytic, with iron overload 2 11.3
38 anemia, x-linked, with or without neutropenia and/or platelet abnormalities 11.2
39 rare hereditary hemochromatosis 10.7
40 myelodysplastic syndrome 10.6
41 refractory anemia 10.6
42 acute leukemia 10.5
43 x-linked cerebellar ataxia 10.5 ALAS2 ABCB7
44 ataxia and polyneuropathy, adult-onset 10.4
45 leukemia 10.4
46 thrombocytosis 10.4
47 thalassemia 10.4
48 neutropenia 10.4
49 mitochondrial myopathy, infantile, transient 10.4 MT-CO1 MT-ATP6
50 anemia, hypochromic microcytic, with iron overload 1 10.4

Comorbidity relations with Sideroblastic Anemia via Phenotypic Disease Network (PDN): (show all 11)


Active Peptic Ulcer Disease Acute Cystitis
Deficiency Anemia Familial Atrial Fibrillation
Heart Disease Hypothyroidism
Iron Deficiency Anemia Neutropenia
Osteoporosis Protein-Energy Malnutrition
Pulmonary Fibrosis and/or Bone Marrow Failure, Telomere-Related, 2

Graphical network of the top 20 diseases related to Sideroblastic Anemia:



Diseases related to Sideroblastic Anemia
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Symptoms & Phenotypes for Sideroblastic Anemia

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GenomeRNAi Phenotypes related to Sideroblastic Anemia according to GeneCards Suite gene sharing:

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased viability GR00221-A-1 10 FXN
2 Decreased viability GR00240-S-1 10 ABCB7
3 Decreased viability GR00249-S 10 ABCB7 ALAS1 ALAS2 FTMT HSPA9 PUS1
4 Decreased viability GR00301-A 10 FXN
5 Decreased viability GR00381-A-1 10 PUS1 UROD
6 Decreased viability GR00386-A-1 10 ACO1 FECH FTMT HSPA9 IREB2 PUS1
7 Decreased viability GR00402-S-2 10 ABCB7 HAMP HSPA9 MT-ATP6
8 Increased the percentage of infected cells GR00402-S-1 8.32 IREB2
Sources

Drugs & Therapeutics for Sideroblastic Anemia

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

(show all 15)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Iron Approved, Experimental Phase 2 15438-31-0, 7439-89-6 27284 23925
2
Deferoxamine Approved, Investigational Phase 2 70-51-9 2973
3
Deferasirox Approved, Investigational Phase 2 201530-41-8 5493381
4 Chelating Agents Phase 2
5 Iron Chelating Agents Phase 2
6 Liver Extracts Phase 2
7
Aminolevulinic acid Approved 106-60-5 137
8
Isoniazid Approved, Investigational 54-85-3 3767
9
Protoporphyrin IX Experimental 553-12-8
10 Anti-Infective Agents
11 Lipid Regulating Agents
12 Antitubercular Agents
13 Anti-Bacterial Agents
14 Antimetabolites
15 Hypolipidemic Agents

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 A Multicenter, Randomized, Open-label Phase II Trial Evaluating Deferasirox Compared With Deferoxamine in Patients With Cardiac Iron Overload Due to Chronic Blood Transfusions Completed NCT00600938 Phase 2 Core Study: Deferasirox;Core Study: Deferoxamine;Extension: deferoxamine to deferasirox;Extension: deferasirox to deferoxamine;Deferasirox;Deferoxamine
2 The Impact of Growth Differentiating Factor (GDF) 15 in Sickle Cell Disease and Hereditary Spherocytosis Unknown status NCT01201135
3 Phenotypic and Genotypic Studies in Congenital and Early Onset Ataxias Completed NCT01488461
4 Efficacy of Invitro Expanded Bone Marrow Derived Allogeneic Mesenchymal Stem Cell Transplantation Via Portal Vein or Hepatic Artery or Peripheral Vein in Patients With Wilson Cirrhosis Completed NCT01378182
5 Quantification of the Effects of Isoniazid Treatment on Erythrocyte and Plasma Protoporphyrin IX Concentration and Plasma Aminolevulinic Acid in Patients With Erythropoietic Protoporphyria Terminated NCT01550705 Isoniazid

Search NIH Clinical Center for Sideroblastic Anemia

Cochrane evidence based reviews: anemia, sideroblastic

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Genetic Tests for Sideroblastic Anemia

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Genetic tests related to Sideroblastic Anemia:

# Genetic test Affiliating Genes
1 Sideroblastic Anemia 29
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Anatomical Context for Sideroblastic Anemia

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MalaCards organs/tissues related to Sideroblastic Anemia:

40
Bone, Bone Marrow, Myeloid, Liver, Spleen, Heart, B Cells
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Publications for Sideroblastic Anemia

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Articles related to Sideroblastic Anemia:

(show top 50) (show all 795)
# Title Authors PMID Year
1
The idic(X)(q13) in myeloid malignancies: breakpoint clustering in segmental duplications and association with TET2 mutations. 61 54
20093295 2010
2
Iron redistribution as a therapeutic strategy for treating diseases of localized iron accumulation. 54 61
20393584 2010
3
Systematic molecular genetic analysis of congenital sideroblastic anemia: evidence for genetic heterogeneity and identification of novel mutations. 54 61
19731322 2010
4
Hereditary sideroblastic anemias: pathophysiology, diagnosis, and treatment. 61 54
19786205 2009
5
C-terminal deletions in the ALAS2 gene lead to gain of function and cause X-linked dominant protoporphyria without anemia or iron overload. 54 61
18760763 2008
6
The role of the iron transporter ABCB7 in refractory anemia with ring sideroblasts. 54 61
18398482 2008
7
The effects of frataxin silencing in HeLa cells are rescued by the expression of human mitochondrial ferritin. 61 54
18160053 2008
8
Multi-organ iron overload in an African-American man with ALAS2 R452S and SLC40A1 R561G. 54 61
19066423 2008
9
X-linked sideroblastic anemia associated with a novel ALAS2 mutation and unfortunate skewed X-chromosome inactivation patterns. 54 61
16735131 2006
10
Biosynthesis of heme in mammals. 54 61
16839620 2006
11
Transgenic rescue of erythroid 5-aminolevulinate synthase-deficient mice results in the formation of ring sideroblasts and siderocytes. 61 54
16716198 2006
12
Strategies for biology- and molecular-based treatment of myelodysplastic syndromes. 61 54
16178803 2005
13
[Progress of study on sideroblastic anemia and its possible gene therapy--review]. 61 54
15972158 2005
14
Mitochondrial myopathy and sideroblastic anemia (MLASA): missense mutation in the pseudouridine synthase 1 (PUS1) gene is associated with the loss of tRNA pseudouridylation. 54 61
15772074 2005
15
Mitochondrial myopathy, sideroblastic anemia, and lactic acidosis: an autosomal recessive syndrome in Persian Jews caused by a mutation in the PUS1 gene. 54 61
15971356 2005
16
[Construction of recombinant vector expressing ALAS2 gene in X-linked sideroblastic anemia]. 61 54
15498136 2004
17
The expression of human mitochondrial ferritin rescues respiratory function in frataxin-deficient yeast. 61 54
15282205 2004
18
Onset of X-linked sideroblastic anemia in the fourth decade. 61 54
15477213 2004
19
Missense mutation in pseudouridine synthase 1 (PUS1) causes mitochondrial myopathy and sideroblastic anemia (MLASA). 54 61
15108122 2004
20
[Genetics of hereditary iron overload]. 61 54
15506716 2004
21
A promoter mutation in the erythroid-specific 5-aminolevulinate synthase (ALAS2) gene causes X-linked sideroblastic anemia. 54 61
12663458 2003
22
Late-onset X-linked sideroblastic anemia following hemodialysis. 54 61
12531813 2003
23
Involvement of ABC7 in the biosynthesis of heme in erythroid cells: interaction of ABC7 with ferrochelatase. 61 54
12480705 2003
24
Mitochondrial ferritin expression in erythroid cells from patients with sideroblastic anemia. 61 54
12406866 2003
25
Granulocyte colony-stimulating factor inhibits spontaneous cytochrome c release and mitochondria-dependent apoptosis of myelodysplastic syndrome hematopoietic progenitors. 54 61
12393561 2003
26
Identification of a novel candidate gene in the iron-sulfur pathway implicated in ataxia-susceptibility: human gene encoding HscB, a J-type co-chaperone. 54 61
12938016 2003
27
Absent phenotypic expression of X-linked sideroblastic anemia in one of 2 brothers with a novel ALAS2 mutation. 54 61
12393718 2002
28
The genetics of inherited sideroblastic anemias. 54 61
12382202 2002
29
Absence of mitochondrial superoxide dismutase results in a murine hemolytic anemia responsive to therapy with a catalytic antioxidant. 54 61
11304553 2001
30
Familial-skewed X-chromosome inactivation as a predisposing factor for late-onset X-linked sideroblastic anemia in carrier females. 61 54
11110715 2000
31
[A novel mutation of the ALAS2 gene in a family with X-linked sideroblastic anemia]. 61 54
11877024 2000
32
Animal models for X-linked sideroblastic anemia. 61 54
11039663 2000
33
Heme deficiency in erythroid lineage causes differentiation arrest and cytoplasmic iron overload. 54 61
10562540 1999
34
Regulation of erythroid 5-aminolevulinate synthase expression during erythropoiesis. 61 54
10582344 1999
35
A novel mutation of the erythroid-specific gamma-Aminolevulinate synthase gene in a patient with non-inherited pyridoxine-responsive sideroblastic anemia. 54 61
10577279 1999
36
[An infant case of sideroblastic anemia that responded to oral pyridoxine]. 61 54
10496043 1999
37
Mutation of a putative mitochondrial iron transporter gene (ABC7) in X-linked sideroblastic anemia and ataxia (XLSA/A). 54 61
10196363 1999
38
Four new mutations in the erythroid-specific 5-aminolevulinate synthase (ALAS2) gene causing X-linked sideroblastic anemia: increased pyridoxine responsiveness after removal of iron overload by phlebotomy and coinheritance of hereditary hemochromatosis. 61 54
10029606 1999
39
Pyridoxine refractory X-linked sideroblastic anemia caused by a point mutation in the erythroid 5-aminolevulinate synthase gene. 61 54
9226183 1997
40
Late-onset X-linked sideroblastic anemia. Missense mutations in the erythroid delta-aminolevulinate synthase (ALAS2) gene in two pyridoxine-responsive patients initially diagnosed with acquired refractory anemia and ringed sideroblasts. 54 61
7560104 1995
41
A new mutation of the ALAS2 gene in a large family with X-linked sideroblastic anemia. 61 54
7705839 1995
42
Molecular defects of erythroid 5-aminolevulinate synthase in X-linked sideroblastic anemia. 54 61
7592563 1995
43
5-Aminolevulinate synthase and the first step of heme biosynthesis. 54 61
7592562 1995
44
X-linked sideroblastic anemia: identification of the mutation in the erythroid-specific delta-aminolevulinate synthase gene (ALAS2) in the original family described by Cooley. 61 54
7949148 1994
45
X-linked pyridoxine-responsive sideroblastic anemia due to a Thr388-to-Ser substitution in erythroid 5-aminolevulinate synthase. 54 61
8107717 1994
46
Erythroid 5-aminolevulinate synthase and X-linked sideroblastic anemia. 61 54
8089650 1993
47
Identification of a highly polymorphic marker within intron 7 of the ALAS2 gene and suggestion of at least two loci for X-linked sideroblastic anemia. 61 54
1301172 1992
48
5-Aminolevulinate synthase in sideroblastic anemias: mRNA and enzyme activity levels in bone marrow cells. 54 61
1415186 1992
49
Assignment of human erythroid delta-aminolevulinate synthase (ALAS2) to a distal subregion of band Xp11.21 by PCR analysis of somatic cell hybrids containing X; autosome translocations. 61 54
1577484 1992
50
Human delta-aminolevulinate synthase: assignment of the housekeeping gene to 3p21 and the erythroid-specific gene to the X chromosome. 61 54
2347585 1990
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Variations for Sideroblastic Anemia

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Expression for Sideroblastic Anemia

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Search GEO for disease gene expression data for Sideroblastic Anemia.
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Pathways for Sideroblastic Anemia

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Pathways related to Sideroblastic Anemia according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Porphyrin and chlorophyll metabolism 36
Show member pathways
 11.71 UROD FXN FECH ALAS2 ALAS1
2
Iron metabolism in placenta 1
9.88 IREB2 HAMP ACO1
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GO Terms for Sideroblastic Anemia

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Cellular components related to Sideroblastic Anemia according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 cell GO:0005623 9.86 IREB2 HAMP GLRX5 FXN FTMT ALAS2
2 mitochondrial matrix GO:0005759 9.73 YARS2 TRNT1 SOD2 PUS1 LARS2 HSPA9
3 mitochondrial inner membrane GO:0005743 9.63 SLC25A38 MT-CO1 MT-ATP6 FECH ALAS2 ABCB7
4 mitochondrion GO:0005739 9.58 YARS2 TRNT1 SOD2 SLC25A38 PUS1 MT-CO1

Biological processes related to Sideroblastic Anemia according to GeneCards Suite gene sharing:

(show all 20)
# Name GO ID Score Top Affiliating Genes
1 oxidation-reduction process GO:0055114 9.99 SOD2 MT-CO1 GLRX5 FXN FTMT
2 iron-sulfur cluster assembly GO:0016226 9.58 HSPA9 FXN
3 iron ion transport GO:0006826 9.58 IREB2 FTMT
4 erythrocyte differentiation GO:0030218 9.58 SLC25A38 HSPA9 ALAS2
5 erythrocyte development GO:0048821 9.57 ALAS2 ALAS1
6 response to iron ion GO:0010039 9.56 HAMP FXN
7 intestinal absorption GO:0050892 9.55 IREB2 ACO1
8 porphyrin-containing compound biosynthetic process GO:0006779 9.54 UROD FECH
9 small molecule metabolic process GO:0044281 9.52 GLRX5 FXN
10 oxygen homeostasis GO:0032364 9.51 SOD2 ALAS2
11 cellular iron ion homeostasis GO:0006879 9.5 IREB2 HAMP FXN FTMT ALAS2 ACO1
12 hemoglobin biosynthetic process GO:0042541 9.49 ALAS2 ALAS1
13 tetrapyrrole biosynthetic process GO:0033014 9.48 ALAS2 ALAS1
14 porphyrin-containing compound metabolic process GO:0006778 9.46 ALAS2 ALAS1
15 protoporphyrinogen IX biosynthetic process GO:0006782 9.46 UROD IREB2 ALAS2 ALAS1
16 citrate metabolic process GO:0006101 9.43 IREB2 ACO1
17 positive regulation of aconitate hydratase activity GO:1904234 9.37 FXN FTMT
18 positive regulation of succinate dehydrogenase activity GO:1904231 9.32 FXN FTMT
19 positive regulation of lyase activity GO:0051349 9.26 FXN FTMT
20 heme biosynthetic process GO:0006783 9.1 UROD SLC25A38 FXN FECH ALAS2 ALAS1

Molecular functions related to Sideroblastic Anemia according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 tRNA binding GO:0000049 9.58 YARS2 TRNT1 PUS1
2 ferric iron binding GO:0008199 9.46 FXN FTMT
3 ferroxidase activity GO:0004322 9.43 FXN FTMT
4 aconitate hydratase activity GO:0003994 9.37 IREB2 ACO1
5 ferrous iron binding GO:0008198 9.33 FXN FTMT FECH
6 iron-responsive element binding GO:0030350 9.32 IREB2 ACO1
7 5-aminolevulinate synthase activity GO:0003870 9.26 ALAS2 ALAS1
8 2 iron, 2 sulfur cluster binding GO:0051537 9.13 GLRX5 FXN FECH
9 iron-sulfur cluster binding GO:0051536 8.92 IREB2 GLRX5 FECH ACO1
Sources

Sources for Sideroblastic Anemia

About this section
3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
The MalaCards human disease database index: 1-9 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z
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