L2HGA
MCID: L2H001
MIFTS: 41

L-2-Hydroxyglutaric Aciduria (L2HGA)

Categories: Genetic diseases, Metabolic diseases, Nephrological diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for L-2-Hydroxyglutaric Aciduria

MalaCards integrated aliases for L-2-Hydroxyglutaric Aciduria:

Name: L-2-Hydroxyglutaric Aciduria 58 12 54 60 76 38 30 13 6 15 74
L-2-Hydroxyglutaric Acidemia 58 12 54 60 76 30 74
L2hga 58 76
Combined D-2- and L-2-Hydroxyglutaric Aciduria 74
Aciduria, L-2-Hydroxyglutaric 41
L-2-Hga 60

Characteristics:

Orphanet epidemiological data:

60
l-2-hydroxyglutaric aciduria
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Childhood; Age of death: normal life expectancy;

OMIM:

58
Inheritance:
autosomal recessive

Miscellaneous:
onset in infancy or early childhood


HPO:

33
l-2-hydroxyglutaric aciduria:
Onset and clinical course infantile onset
Inheritance autosomal recessive inheritance


Classifications:



Summaries for L-2-Hydroxyglutaric Aciduria

NIH Rare Diseases : 54 L-2-hydroxyglutaric aciduria is an inheritedmetabolic condition that is associated with progressive brain damage. Signs and symptoms of this condition typically begin during infancy or early childhood and may include developmental delay, seizures, speech difficulties, macrocephaly and abnormalities in a part of the brain called the cerebellum, which is involved in coordinating movement (i.e. balance and muscle coordination). L-2-hydroxyglutaric aciduria is caused by changes (mutations) in the L2HGDH gene and is inherited in an autosomal recessive manner. Treatment is focused on alleviating the signs and symptoms of the condition, such as medications to control seizures.

MalaCards based summary : L-2-Hydroxyglutaric Aciduria, also known as l-2-hydroxyglutaric acidemia, is related to 2-hydroxyglutaric aciduria and d-2-hydroxyglutaric aciduria 1, and has symptoms including seizures, abnormal pyramidal signs and dyspnea. An important gene associated with L-2-Hydroxyglutaric Aciduria is L2HGDH (L-2-Hydroxyglutarate Dehydrogenase), and among its related pathways/superpathways are Butanoate metabolism and Pyruvate metabolism and Citric Acid (TCA) cycle. Affiliated tissues include cerebellum and brain, and related phenotypes are seizures and encephalitis

Disease Ontology : 12 An 2-hydroxyglutaric aciduria that involves damage to cerebellum affecting movement coordination resulting in problems with balance and muscle coordination (ataxia).

UniProtKB/Swiss-Prot : 76 L-2-hydroxyglutaric aciduria: A rare autosomal recessive disorder clinically characterized by mild psychomotor delay in the first years of life, followed by progressive cerebellar ataxia, dysarthria and moderate to severe mental retardation. Diagnosis is based on the presence of an excess of L-2- hydroxyglutaric acid in urine, blood and cerebrospinal fluid.

Description from OMIM: 236792

Related Diseases for L-2-Hydroxyglutaric Aciduria

Diseases in the 2-Hydroxyglutaric Aciduria family:

L-2-Hydroxyglutaric Aciduria

Diseases related to L-2-Hydroxyglutaric Aciduria via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 19)
# Related Disease Score Top Affiliating Genes
1 2-hydroxyglutaric aciduria 32.9 L2HGDH MDH2 SLC25A1
2 d-2-hydroxyglutaric aciduria 1 31.8 GLS2 L2HGDH
3 combined d-2- and l-2-hydroxyglutaric aciduria 12.8
4 encephalopathy 10.4
5 epilepsy 10.3
6 canavan disease 10.2
7 medulloblastoma 10.1
8 wilms tumor 5 10.1
9 aceruloplasminemia 10.1
10 polyglucosan body myopathy 1 with or without immunodeficiency 10.1
11 wilms tumor 6 10.1
12 hemiplegia 10.1
13 status epilepticus 10.1
14 lactic acidosis 10.1
15 gliomatosis cerebri 10.1
16 bacterial meningitis 10.1
17 meningitis 10.1
18 tremor 10.1
19 idiopathic hemiconvulsion-hemiplegia syndrome 10.1

Graphical network of the top 20 diseases related to L-2-Hydroxyglutaric Aciduria:



Diseases related to L-2-Hydroxyglutaric Aciduria

Symptoms & Phenotypes for L-2-Hydroxyglutaric Aciduria

Human phenotypes related to L-2-Hydroxyglutaric Aciduria:

60 33 (show all 27)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 seizures 60 33 hallmark (90%) Very frequent (99-80%) HP:0001250
2 encephalitis 60 33 hallmark (90%) Very frequent (99-80%) HP:0002383
3 intellectual disability, severe 60 33 hallmark (90%) Very frequent (99-80%) HP:0010864
4 intellectual disability, progressive 60 33 hallmark (90%) Very frequent (99-80%) HP:0006887
5 macrocephaly 60 33 frequent (33%) Frequent (79-30%) HP:0000256
6 muscular hypotonia 60 33 frequent (33%) Frequent (79-30%) HP:0001252
7 behavioral abnormality 60 33 frequent (33%) Frequent (79-30%) HP:0000708
8 aplasia/hypoplasia of the cerebellum 60 33 frequent (33%) Frequent (79-30%) HP:0007360
9 abnormality of extrapyramidal motor function 60 33 frequent (33%) Frequent (79-30%) HP:0002071
10 neoplasm of the nervous system 60 33 frequent (33%) Frequent (79-30%) HP:0004375
11 spastic tetraparesis 60 33 frequent (33%) Frequent (79-30%) HP:0001285
12 dysphasia 60 33 occasional (7.5%) Occasional (29-5%) HP:0002357
13 nystagmus 33 HP:0000639
14 developmental regression 33 HP:0002376
15 hearing impairment 33 HP:0000365
16 optic atrophy 33 HP:0000648
17 strabismus 33 HP:0000486
18 cerebellar atrophy 33 HP:0001272
19 corpus callosum atrophy 33 HP:0007371
20 gliosis 33 HP:0002171
21 global brain atrophy 33 HP:0002283
22 leukoencephalopathy 33 HP:0002352
23 morphological abnormality of the pyramidal tract 33 HP:0002062
24 severe demyelination of the white matter 33 HP:0007258
25 abnormal pyramidal sign 33 HP:0007256
26 l-2-hydroxyglutaric aciduria 33 HP:0040144
27 l-2-hydroxyglutaric acidemia 33 HP:0040147

Symptoms via clinical synopsis from OMIM:

58
Head And Neck Eyes:
nystagmus
optic atrophy
strabismus

Head And Neck Ears:
hearing loss

Neurologic Central Nervous System:
seizures
dysphasia
spastic tetraparesis
extrapyramidal signs
pyramidal signs
more
Laboratory Abnormalities:
increased l-2-hydroxyglutaric acid in urine, serum, and csf
increased lysine in serum and csf

Clinical features from OMIM:

236792

UMLS symptoms related to L-2-Hydroxyglutaric Aciduria:


seizures, abnormal pyramidal signs, dyspnea, abnormality of extrapyramidal motor function, stridor

Drugs & Therapeutics for L-2-Hydroxyglutaric Aciduria

Search Clinical Trials , NIH Clinical Center for L-2-Hydroxyglutaric Aciduria

Genetic Tests for L-2-Hydroxyglutaric Aciduria

Genetic tests related to L-2-Hydroxyglutaric Aciduria:

# Genetic test Affiliating Genes
1 L-2-Hydroxyglutaric Aciduria 30 L2HGDH
2 L-2-Hydroxyglutaric Acidemia 30

Anatomical Context for L-2-Hydroxyglutaric Aciduria

MalaCards organs/tissues related to L-2-Hydroxyglutaric Aciduria:

42
Cerebellum, Brain

Publications for L-2-Hydroxyglutaric Aciduria

Articles related to L-2-Hydroxyglutaric Aciduria:

(show top 50) (show all 106)
# Title Authors Year
1
Oxidative stress among L-2-hydroxyglutaric aciduria disease patients: evaluation of dynamic thiol/disulfide homeostasis. ( 30499066 )
2019
2
Manifestation of recessive combined D-2-, L-2-hydroxyglutaric aciduria in combination with 22q11.2 deletion syndrome. ( 29265763 )
2018
3
Muscle Weakness, Cardiomyopathy, and L-2-Hydroxyglutaric Aciduria Associated with a Novel Recessive SLC25A4 Mutation. ( 29654543 )
2018
4
A novel compound heterozygous mutation of the L2HGDH gene in a Chinese boy with L-2-hydroxyglutaric aciduria: case report and literature review. ( 29980873 )
2018
5
A Drosophila model of combined D-2- and L-2-hydroxyglutaric aciduria reveals a mechanism linking mitochondrial citrate export with oncometabolite accumulation. ( 30108060 )
2018
6
Two novel L2HGDH mutations identified in a rare Chinese family with L-2-hydroxyglutaric aciduria. ( 30217188 )
2018
7
Teaching NeuroImages: Imaging in metabolic leukoencephalopathy, L-2-hydroxyglutaric aciduria. ( 30323080 )
2018
8
Experimental evidence of oxidative stress in patients with l-2-hydroxyglutaric aciduria and that l-carnitine attenuates in vitro DNA damage caused by d-2-hydroxyglutaric and l-2-hydroxyglutaric acids. ( 28396261 )
2017
9
An overview of combined D-2- and L-2-hydroxyglutaric aciduria: functional analysis of CIC variants. ( 29238895 )
2017
10
An L-2-Hydroxyglutaric Aciduria Case Presented With Acute Bacterial Meningitis. ( 28141777 )
2017
11
Clinical features and disease progression of L-2-hydroxyglutaric aciduria in 27 Staffordshire bull terriers. ( 27729589 )
2016
12
In-vivo brain H1-MR-Spectroscopy identification and quantification of 2-hydroxyglutarate in L-2-Hydroxyglutaric aciduria. ( 27543339 )
2016
13
Why is L-2 hydroxyglutaric aciduria relevant for a general practitioner? ( 27885126 )
2016
14
Expanding the Clinical Spectrum of Mitochondrial Citrate Carrier (SLC25A1) Deficiency: Facial Dysmorphism in Siblings with Epileptic Encephalopathy and Combined D,L-2-Hydroxyglutaric Aciduria. ( 25614306 )
2015
15
A novel compound heterozygous mutation in a Chinese boy with L-2-hydroxyglutaric aciduria: a case study. ( 26208971 )
2015
16
White matter abnormalities in an adult patient with l-2-hydroxyglutaric aciduria. ( 25982940 )
2015
17
A mouse model of L-2-hydroxyglutaric aciduria, a disorder of metabolite repair. ( 25763823 )
2015
18
Gliomatosis cerebri in L-2-hydroxyglutaric aciduria. ( 25997888 )
2015
19
An interesting case of metabolic dystonia: L-2 hydroxyglutaric aciduria. ( 24753671 )
2014
20
L-2-Hydroxyglutaric aciduria: a case report. ( 25033591 )
2014
21
Successive distinct high-grade gliomas in L-2-hydroxyglutaric aciduria. ( 25338511 )
2014
22
Clinical, neuroimaging, and genetic features of L-2-hydroxyglutaric aciduria in Arab kindreds. ( 24894778 )
2014
23
A case of L-2 hydroxyglutaric aciduria presenting as febrile seizure. ( 25804013 )
2014
24
L-2 hydroxyglutaric aciduria in a South African Staffordshire Bull Terrier. ( 24830757 )
2014
25
Writer's cramp as a presentation of L-2-hydroxyglutaric aciduria. ( 26788335 )
2014
26
Cerebral multicystic lesions in a child with L-2 hydroxyglutaric aciduria: a rare disease and a rare association. ( 24314673 )
2014
27
Founder effect confirmation of c.241A&amp;gt;G mutation in the L2HGDH gene and characterization of oxidative stress parameters in six Tunisian families with L-2-hydroxyglutaric aciduria. ( 24573090 )
2014
28
L-2 hydroxyglutaric aciduria presenting with status epilepticus. ( 23749865 )
2013
29
L-2-Hydroxyglutaric Aciduria: Report of Two Indian Families. ( 24037495 )
2013
30
A child with L-2 hydroxyglutaric aciduria presenting with dilated cardiomyopathy: Coincidence or a new syndrome? ( 24382499 )
2013
31
Deficiency in SLC25A1, encoding the mitochondrial citrate carrier, causes combined D-2- and L-2-hydroxyglutaric aciduria. ( 23561848 )
2013
32
L-2 hydroxyglutaric aciduria presenting with anxiety symptoms. ( 23749824 )
2013
33
L-2 hydroxyglutaric aciduria as a rare cause of leukencephalopathy in adults. ( 22840416 )
2013
34
A L2HGDH initiator methionine codon mutation in a Yorkshire terrier with L-2-hydroxyglutaric aciduria. ( 22834903 )
2012
35
Eyelid myoclonia with absence seizures in a child with l-2 hydroxyglutaric aciduria: findings of magnetic resonance imaging. ( 22353300 )
2012
36
L-2-hydroxyglutaric aciduria in two female Yorkshire terriers. ( 22843824 )
2012
37
Cerebral neoplasms in L-2 hydroxyglutaric aciduria: 3 new cases and meta-analysis of literature data. ( 22241392 )
2012
38
L-2-hydroxyglutaric aciduria diagnosed in a young adult with progressive cerebellar ataxia and facial dyskinesia. ( 22030381 )
2012
39
Clinical, genetic and magnetic resonance findings in an Italian patient affected by L-2-hydroxyglutaric aciduria. ( 20859647 )
2011
40
L-2-hydroxyglutaric aciduria and brain tumors. ( 20421813 )
2010
41
L-2-hydroxyglutaric aciduria: report of four Turkish adult patients. ( 20065797 )
2010
42
L-2-hydroxyglutaric aciduria and multiple acyl-coenzyme A dehydrogenase deficiency are distinct metabolic disorders. ( 20168250 )
2010
43
Wilms tumor in a child with L-2-hydroxyglutaric aciduria. ( 20064066 )
2010
44
L-2-hydroxyglutaric aciduria diagnosed in an adult presenting with acute deterioration. ( 19760480 )
2010
45
L-2 Hydroxyglutaric Aciduria: Magnetization Transfer Contrast and Diffusion Weighted Magnetic Resonance Imaging Findings. A case Report. ( 24148627 )
2010
46
Riboflavin treatment in a case with l-2-hydroxyglutaric aciduria. ( 18343698 )
2009
47
A novel mutation as a cause of L-2-hydroxyglutaric aciduria. ( 19444541 )
2009
48
L: -2-Hydroxyglutaric aciduria, a disorder of metabolite repair. ( 19020988 )
2009
49
L-2-Hydroxyglutaric aciduria: pattern of MR imaging abnormalities in 56 patients. ( 19474378 )
2009
50
Development and implementation of a novel assay for L-2-hydroxyglutarate dehydrogenase (L-2-HGDH) in cell lysates: L-2-HGDH deficiency in 15 patients with L-2-hydroxyglutaric aciduria. ( 19821142 )
2009

Variations for L-2-Hydroxyglutaric Aciduria

UniProtKB/Swiss-Prot genetic disease variations for L-2-Hydroxyglutaric Aciduria:

76
# Symbol AA change Variation ID SNP ID
1 L2HGDH p.Gly55Asp VAR_025682 rs118204021
2 L2HGDH p.Gly57Arg VAR_025683 rs199690954
3 L2HGDH p.Lys81Glu VAR_025684 rs970541687
4 L2HGDH p.His98Arg VAR_025685 rs267607206
5 L2HGDH p.His98Tyr VAR_025686
6 L2HGDH p.Glu176Asp VAR_025687
7 L2HGDH p.Pro302Leu VAR_025689 rs118204020
8 L2HGDH p.His434Pro VAR_025690 rs750044734

ClinVar genetic disease variations for L-2-Hydroxyglutaric Aciduria:

6 (show all 37)
# Gene Variation Type Significance SNP ID Assembly Location
1 L2HGDH NM_024884.2(L2HGDH): c.627A> G (p.Ala209=) single nucleotide variant Uncertain significance rs564306903 GRCh37 Chromosome 14, 50750665: 50750665
2 L2HGDH NM_024884.2(L2HGDH): c.627A> G (p.Ala209=) single nucleotide variant Uncertain significance rs564306903 GRCh38 Chromosome 14, 50283947: 50283947
3 L2HGDH NM_024884.2(L2HGDH): c.99G> T (p.Arg33Ser) single nucleotide variant Benign/Likely benign rs35710558 GRCh37 Chromosome 14, 50778770: 50778770
4 L2HGDH NM_024884.2(L2HGDH): c.99G> T (p.Arg33Ser) single nucleotide variant Benign/Likely benign rs35710558 GRCh38 Chromosome 14, 50312052: 50312052
5 L2HGDH NM_024884.2(L2HGDH): c.465delA (p.Gly156Alafs) deletion Pathogenic rs797045678 GRCh38 Chromosome 14, 50294190: 50294190
6 L2HGDH NM_024884.2(L2HGDH): c.465delA (p.Gly156Alafs) deletion Pathogenic rs797045678 GRCh37 Chromosome 14, 50760908: 50760908
7 L2HGDH NM_024884.2(L2HGDH): c.905C> T (p.Pro302Leu) single nucleotide variant Pathogenic rs118204020 GRCh37 Chromosome 14, 50735882: 50735882
8 L2HGDH NM_024884.2(L2HGDH): c.905C> T (p.Pro302Leu) single nucleotide variant Pathogenic rs118204020 GRCh38 Chromosome 14, 50269164: 50269164
9 L2HGDH NM_024884.2(L2HGDH): c.1115delT (p.Met372Serfs) deletion Pathogenic rs786200869 GRCh37 Chromosome 14, 50732157: 50732157
10 L2HGDH NM_024884.2(L2HGDH): c.1115delT (p.Met372Serfs) deletion Pathogenic rs786200869 GRCh38 Chromosome 14, 50265439: 50265439
11 L2HGDH NM_024884.2(L2HGDH): c.906+1G> T single nucleotide variant Pathogenic rs786200870 GRCh37 Chromosome 14, 50735880: 50735880
12 L2HGDH NM_024884.2(L2HGDH): c.906+1G> T single nucleotide variant Pathogenic rs786200870 GRCh38 Chromosome 14, 50269162: 50269162
13 L2HGDH NM_024884.2(L2HGDH): c.164G> A (p.Gly55Asp) single nucleotide variant Pathogenic rs118204021 GRCh37 Chromosome 14, 50769712: 50769712
14 L2HGDH NM_024884.2(L2HGDH): c.164G> A (p.Gly55Asp) single nucleotide variant Pathogenic rs118204021 GRCh38 Chromosome 14, 50302994: 50302994
15 L2HGDH NC_000014.9: g.(50000000_?)_(?_50247254)del deletion Pathogenic GRCh38 Chromosome 14, 50000000: 50247254
16 L2HGDH NM_024884.2(L2HGDH): c.293A> G (p.His98Arg) single nucleotide variant Likely pathogenic rs267607206 GRCh37 Chromosome 14, 50768850: 50768850
17 L2HGDH NM_024884.2(L2HGDH): c.293A> G (p.His98Arg) single nucleotide variant Likely pathogenic rs267607206 GRCh38 Chromosome 14, 50302132: 50302132
18 L2HGDH NM_024884.2(L2HGDH): c.1003C> T (p.Arg335Ter) single nucleotide variant Pathogenic rs387907013 GRCh37 Chromosome 14, 50734532: 50734532
19 L2HGDH NM_024884.2(L2HGDH): c.1003C> T (p.Arg335Ter) single nucleotide variant Pathogenic rs387907013 GRCh38 Chromosome 14, 50267814: 50267814
20 L2HGDH NM_024884.2(L2HGDH): c.1015delA (p.Arg339Aspfs) deletion Pathogenic rs1555328749 GRCh37 Chromosome 14, 50734520: 50734520
21 L2HGDH NM_024884.2(L2HGDH): c.1015delA (p.Arg339Aspfs) deletion Pathogenic rs1555328749 GRCh38 Chromosome 14, 50267802: 50267802
22 L2HGDH NM_024884.2(L2HGDH): c.584A> G (p.Tyr195Cys) single nucleotide variant Likely pathogenic rs887386390 GRCh38 Chromosome 14, 50283990: 50283990
23 L2HGDH NM_024884.2(L2HGDH): c.584A> G (p.Tyr195Cys) single nucleotide variant Likely pathogenic rs887386390 GRCh37 Chromosome 14, 50750708: 50750708
24 L2HGDH NM_024884.2(L2HGDH): c.409-4G> T single nucleotide variant Likely benign rs767524925 GRCh38 Chromosome 14, 50294250: 50294250
25 L2HGDH NM_024884.2(L2HGDH): c.409-4G> T single nucleotide variant Likely benign rs767524925 GRCh37 Chromosome 14, 50760968: 50760968
26 L2HGDH NM_024884.2(L2HGDH): c.586C> T (p.Arg196Trp) single nucleotide variant Uncertain significance GRCh38 Chromosome 14, 50283988: 50283988
27 L2HGDH NM_024884.2(L2HGDH): c.586C> T (p.Arg196Trp) single nucleotide variant Uncertain significance GRCh37 Chromosome 14, 50750706: 50750706
28 L2HGDH NM_024884.2(L2HGDH): c.533A> T (p.Tyr178Phe) single nucleotide variant Uncertain significance GRCh37 Chromosome 14, 50760840: 50760840
29 L2HGDH NM_024884.2(L2HGDH): c.533A> T (p.Tyr178Phe) single nucleotide variant Uncertain significance GRCh38 Chromosome 14, 50294122: 50294122
30 L2HGDH NM_024884.2(L2HGDH): c.530delC (p.Pro177Hisfs) deletion Pathogenic GRCh37 Chromosome 14, 50760843: 50760843
31 L2HGDH NM_024884.2(L2HGDH): c.530delC (p.Pro177Hisfs) deletion Pathogenic GRCh38 Chromosome 14, 50294125: 50294125
32 L2HGDH NM_024884.2(L2HGDH): c.70C> T (p.Pro24Ser) single nucleotide variant Uncertain significance GRCh37 Chromosome 14, 50778799: 50778799
33 L2HGDH NM_024884.2(L2HGDH): c.70C> T (p.Pro24Ser) single nucleotide variant Uncertain significance GRCh38 Chromosome 14, 50312081: 50312081
34 L2HGDH NM_024884.2(L2HGDH): c.208C> T (p.Arg70Ter) single nucleotide variant Pathogenic GRCh38 Chromosome 14, 50302950: 50302950
35 L2HGDH NM_024884.2(L2HGDH): c.208C> T (p.Arg70Ter) single nucleotide variant Pathogenic GRCh37 Chromosome 14, 50769668: 50769668
36 L2HGDH NM_024884.2(L2HGDH): c.1032T> G (p.Ser344Arg) single nucleotide variant Uncertain significance GRCh38 Chromosome 14, 50267785: 50267785
37 L2HGDH NM_024884.2(L2HGDH): c.1032T> G (p.Ser344Arg) single nucleotide variant Uncertain significance GRCh37 Chromosome 14, 50734503: 50734503

Expression for L-2-Hydroxyglutaric Aciduria

Search GEO for disease gene expression data for L-2-Hydroxyglutaric Aciduria.

Pathways for L-2-Hydroxyglutaric Aciduria

Pathways related to L-2-Hydroxyglutaric Aciduria according to KEGG:

38
# Name Kegg Source Accession
1 Butanoate metabolism hsa00650

Pathways related to L-2-Hydroxyglutaric Aciduria according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
10.74 L2HGDH MDH2

GO Terms for L-2-Hydroxyglutaric Aciduria

Cellular components related to L-2-Hydroxyglutaric Aciduria according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 mitochondrion GO:0005739 8.92 GLS2 L2HGDH MDH2 SLC25A1

Biological processes related to L-2-Hydroxyglutaric Aciduria according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 gluconeogenesis GO:0006094 8.62 MDH2 SLC25A1

Sources for L-2-Hydroxyglutaric Aciduria

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75 UMLS via Orphanet
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