COXPD1
MCID: CMB012
MIFTS: 43

Combined Oxidative Phosphorylation Deficiency 1 (COXPD1)

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

Aliases & Classifications for Combined Oxidative Phosphorylation Deficiency 1

MalaCards integrated aliases for Combined Oxidative Phosphorylation Deficiency 1:

Name: Combined Oxidative Phosphorylation Deficiency 1 56 12 25 73 29 13 6 43 15 71
Coxpd1 56 12 25 73
Hepatoencephalopathy Due to Combined Oxidative Phosphorylation Defect Type 1 12 25 58
Early Fatal Progressive Hepatoencephalopathy 12 25
Hepatoencephalopathy Due to Coxpd1 12 58
Combined Oxidative Phosphorylation Deficiency, Type 1 39
Hepatoencephalopathy, Early Fatal Progressive 56
Hepatoencephalopathy Early Fatal Progressive 73

Characteristics:

Orphanet epidemiological data:

58

OMIM:

56
Inheritance:
autosomal recessive

Miscellaneous:
onset at birth
death within first months or years of life
four patients have been reported (as of july 2011)


HPO:

31
combined oxidative phosphorylation deficiency 1:
Inheritance autosomal recessive inheritance
Onset and clinical course congenital onset


Classifications:

Orphanet: 58  
Rare hepatic diseases
Inborn errors of metabolism


External Ids:

Disease Ontology 12 DOID:0111474
OMIM 56 609060
OMIM Phenotypic Series 56 PS609060
NCIt 49 C125663
ICD10 via Orphanet 33 E88.8
UMLS via Orphanet 72 C1836797
Orphanet 58 ORPHA137681
MedGen 41 C1836797
UMLS 71 C1836797

Summaries for Combined Oxidative Phosphorylation Deficiency 1

Genetics Home Reference : 25 Combined oxidative phosphorylation deficiency 1 is a severe condition that primarily impairs neurological and liver function. Most people with combined oxidative phosphorylation deficiency 1 have severe brain dysfunction (encephalopathy) that worsens over time; they also have difficulty growing and gaining weight at the expected rate (failure to thrive). In some cases, affected individuals have abnormal muscle tone (increased or decreased), developmental delay, seizures, loss of sensation in the limbs (peripheral neuropathy), and an unusually small head (microcephaly). Liver disease is common in people with combined oxidative phosphorylation deficiency 1, with individuals quickly developing liver failure. Individuals with this condition also usually have a potentially life-threatening buildup of a chemical called lactic acid in the body (lactic acidosis). The neurological features of combined oxidative phosphorylation deficiency 1 are largely due to brain abnormalities that include thinning of the tissue that connects the two halves of the brain (corpus callosum hypoplasia) and loss of brain tissue called white matter (leukodystrophy), particularly in an area of the brain called the basal ganglia, which normally helps control movement. Individuals with combined oxidative phosphorylation deficiency 1 usually do not survive past early childhood, although some people live longer.

MalaCards based summary : Combined Oxidative Phosphorylation Deficiency 1, also known as coxpd1, is related to combined oxidative phosphorylation deficiency 12 and combined oxidative phosphorylation deficiency 6, and has symptoms including muscle spasticity and stiffness. An important gene associated with Combined Oxidative Phosphorylation Deficiency 1 is GFM1 (G Elongation Factor Mitochondrial 1), and among its related pathways/superpathways are Organelle biogenesis and maintenance and Mitochondrial translation. Affiliated tissues include liver, brain and eye, and related phenotypes are hepatomegaly and microcephaly

Disease Ontology : 12 A combined oxidative phosphorylation deficiency that has material basis in homozygous or compound heterozygous mutation in GFM1 on chromosome 3q25.32.

OMIM : 56 Combined oxidative phosphorylation deficiency is an autosomal recessive multisystem disorder with variable manifestations resulting from a defect in the mitochondrial oxidative phosphorylation (OXPHOS) system. Onset occurs at or soon after birth, and features can include growth retardation, microcephaly, hypertonicity, axial hypotonia, encephalopathy, cardiomyopathy, and liver dysfunction. Death usually occurs in the first weeks or years of life (summary by Smits et al., 2011). (609060)

UniProtKB/Swiss-Prot : 73 Combined oxidative phosphorylation deficiency 1: A mitochondrial disease resulting in early rapidly progressive hepatoencephalopathy.

Related Diseases for Combined Oxidative Phosphorylation Deficiency 1

Diseases related to Combined Oxidative Phosphorylation Deficiency 1 via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 27)
# Related Disease Score Top Affiliating Genes
1 combined oxidative phosphorylation deficiency 12 31.5 VARS2 NARS2
2 combined oxidative phosphorylation deficiency 6 11.1
3 combined oxidative phosphorylation deficiency 8 11.1
4 combined oxidative phosphorylation deficiency 10 11.1
5 combined oxidative phosphorylation deficiency 11 11.1
6 combined oxidative phosphorylation deficiency 14 11.1
7 combined oxidative phosphorylation deficiency 18 11.1
8 combined oxidative phosphorylation deficiency 23 11.1
9 combined oxidative phosphorylation deficiency 24 11.1
10 combined oxidative phosphorylation deficiency 28 11.1
11 combined oxidative phosphorylation deficiency 31 11.1
12 combined oxidative phosphorylation deficiency 32 11.1
13 combined oxidative phosphorylation deficiency 33 11.1
14 combined oxidative phosphorylation deficiency 34 11.1
15 combined oxidative phosphorylation deficiency 35 11.1
16 combined oxidative phosphorylation deficiency 37 11.1
17 combined oxidative phosphorylation deficiency 39 11.1
18 combined oxidative phosphorylation deficiency 40 11.1
19 combined oxidative phosphorylation deficiency 42 11.1
20 combined oxidative phosphorylation deficiency 44 11.1
21 combined oxidative phosphorylation deficiency 3 9.7 TUFM TSFM
22 combined oxidative phosphorylation deficiency 4 9.6 TUFM TSFM GFM1
23 perrault syndrome 9.6 VARS2 NARS2 MRPS22 MRPL44
24 leigh syndrome 9.0 TUFM TSFM NARS2 MRPS22 GFM2
25 combined oxidative phosphorylation deficiency 8.9 VARS2 TUFM TSFM NARS2 MRPS22 GFM1
26 diamond-blackfan anemia 8.8 RPL9 RPL31 RPL18
27 mitochondrial metabolism disease 8.6 VARS2 TUFM TSFM NARS2 MRPS22 GFM2

Graphical network of the top 20 diseases related to Combined Oxidative Phosphorylation Deficiency 1:



Diseases related to Combined Oxidative Phosphorylation Deficiency 1

Symptoms & Phenotypes for Combined Oxidative Phosphorylation Deficiency 1

Human phenotypes related to Combined Oxidative Phosphorylation Deficiency 1:

31 (show all 21)
# Description HPO Frequency HPO Source Accession
1 hepatomegaly 31 HP:0002240
2 microcephaly 31 HP:0000252
3 spasticity 31 HP:0001257
4 feeding difficulties 31 HP:0011968
5 nystagmus 31 HP:0000639
6 hyperreflexia 31 HP:0001347
7 intrauterine growth retardation 31 HP:0001511
8 motor delay 31 HP:0001270
9 increased serum lactate 31 HP:0002151
10 cholestasis 31 HP:0001396
11 hypoplasia of the corpus callosum 31 HP:0002079
12 poor eye contact 31 HP:0000817
13 increased csf lactate 31 HP:0002490
14 metabolic acidosis 31 HP:0001942
15 muscular hypotonia of the trunk 31 HP:0008936
16 hypokinesia 31 HP:0002375
17 delayed myelination 31 HP:0012448
18 global brain atrophy 31 HP:0002283
19 basal ganglia cysts 31 HP:0006799
20 seizure 31 HP:0001250
21 fulminant hepatic failure 31 HP:0004448

Symptoms via clinical synopsis from OMIM:

56
Abdomen Liver:
hepatomegaly
cholestasis
fulminant hepatic failure (in 2 sibs)
liver necrosis

Head And Neck Eyes:
nystagmus
poor eye contact

Laboratory Abnormalities:
increased serum lactate
increased cerebrospinal fluid lactate
increased serum direct bilirubin
fibroblasts show decreased activity of mitochondrial respiratory complex i, complex iii, complex iv, and complex v

Head And Neck Head:
microcephaly, mild

Neurologic Central Nervous System:
spasticity
hyperreflexia
hypoplasia of the corpus callosum
delayed myelination
delayed motor development
more
Growth Other:
intrauterine growth retardation

Abdomen Gastrointestinal:
feeding problems

Metabolic Features:
metabolic acidosis, severe

Clinical features from OMIM:

609060

UMLS symptoms related to Combined Oxidative Phosphorylation Deficiency 1:


muscle spasticity, stiffness

GenomeRNAi Phenotypes related to Combined Oxidative Phosphorylation Deficiency 1 according to GeneCards Suite gene sharing:

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Nuclear 60S biogenesis defects GR00209-A-3 8.8 RPL18 RPL31 RPL9

Drugs & Therapeutics for Combined Oxidative Phosphorylation Deficiency 1

Search Clinical Trials , NIH Clinical Center for Combined Oxidative Phosphorylation Deficiency 1

Cochrane evidence based reviews: combined oxidative phosphorylation deficiency 1

Genetic Tests for Combined Oxidative Phosphorylation Deficiency 1

Genetic tests related to Combined Oxidative Phosphorylation Deficiency 1:

# Genetic test Affiliating Genes
1 Combined Oxidative Phosphorylation Deficiency 1 29 GFM1

Anatomical Context for Combined Oxidative Phosphorylation Deficiency 1

MalaCards organs/tissues related to Combined Oxidative Phosphorylation Deficiency 1:

40
Liver, Brain, Eye

Publications for Combined Oxidative Phosphorylation Deficiency 1

Articles related to Combined Oxidative Phosphorylation Deficiency 1:

# Title Authors PMID Year
1
Mutation in subdomain G' of mitochondrial elongation factor G1 is associated with combined OXPHOS deficiency in fibroblasts but not in muscle. 56 6
21119709 2011
2
Infantile encephalopathy and defective mitochondrial DNA translation in patients with mutations of mitochondrial elongation factors EFG1 and EFTu. 6 56
17160893 2007
3
Mutant mitochondrial elongation factor G1 and combined oxidative phosphorylation deficiency. 56 6
15537906 2004

Variations for Combined Oxidative Phosphorylation Deficiency 1

ClinVar genetic disease variations for Combined Oxidative Phosphorylation Deficiency 1:

6 (show top 50) (show all 95) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 NARS2 NM_024678.6(NARS2):c.10del (p.Val4fs)deletion Pathogenic 522915 rs1555047651 11:78285524-78285524 11:78574479-78574479
2 MRPL44 NM_022915.4(MRPL44):c.800T>A (p.Leu267Ter)SNV Pathogenic 638416 2:224828624-224828624 2:223963907-223963907
3 GFM1 NM_024996.7(GFM1):c.100C>T (p.Arg34Ter)SNV Pathogenic 812093 3:158363436-158363436 3:158645647-158645647
4 GFM1 NM_024996.7(GFM1):c.248A>T (p.Asp83Val)SNV Pathogenic 812090 3:158363967-158363967 3:158646178-158646178
5 GFM1 NM_024996.7(GFM1):c.1149_1160del (p.Ile384_Thr387del)deletion Pathogenic 812091 3:158376772-158376783 3:158658983-158658994
6 GFM1 NM_024996.7(GFM1):c.1297_1300del (p.Asp433fs)deletion Pathogenic 812086 3:158378735-158378738 3:158660946-158660949
7 GFM1 NM_024996.7(GFM1):c.1404del (p.Gly469fs)deletion Pathogenic 812087 3:158383146-158383146 3:158665357-158665357
8 GFM1 NM_024996.7(GFM1):c.1546T>C (p.Cys516Arg)SNV Pathogenic 812092 3:158384120-158384120 3:158666331-158666331
9 GFM1 NM_024996.7(GFM1):c.1571C>T (p.Ala524Val)SNV Pathogenic 812094 3:158384145-158384145 3:158666356-158666356
10 GFM1 NM_024996.5(GFM1):c.139C>T (p.Arg47Ter)SNV Pathogenic 4161 rs119470019 3:158363475-158363475 3:158645686-158645686
11 GFM1 NM_024996.5(GFM1):c.1487T>G (p.Met496Arg)SNV Pathogenic 4162 rs119470020 3:158383232-158383232 3:158665443-158665443
12 GFM1 NM_024996.5(GFM1):c.700C>T (p.Arg234Ter)SNV Pathogenic 214495 rs863224032 3:158369895-158369895 3:158652106-158652106
13 GFM1 NM_024996.5(GFM1):c.748C>T (p.Arg250Trp)SNV Pathogenic/Likely pathogenic 30598 rs139430866 3:158369943-158369943 3:158652154-158652154
14 GFM1 NM_024996.5(GFM1):c.2011C>T (p.Arg671Cys)SNV Pathogenic/Likely pathogenic 214500 rs201408725 3:158408053-158408053 3:158690264-158690264
15 GFM1 NM_001308164.1(GFM1):c.395A>C (p.Glu132Ala)SNV Likely pathogenic 522768 rs1553847587 3:158364559-158364559 3:158646770-158646770
16 GFM1 NM_024996.7(GFM1):c.54del (p.Ala19fs)deletion Likely pathogenic 667375 3:158362473-158362473 3:158644684-158644684
17 GFM1 NM_024996.7(GFM1):c.952C>T (p.Pro318Ser)SNV Likely pathogenic 869394 3:158371210-158371210 3:158653421-158653421
18 GFM1 NM_024996.7(GFM1):c.1822C>T (p.Arg608Trp)SNV Likely pathogenic 802018 3:158402370-158402370 3:158684581-158684581
19 GFM1 NM_024996.5(GFM1):c.521A>G (p.Asn174Ser)SNV Likely pathogenic 4160 rs119470018 3:158364685-158364685 3:158646896-158646896
20 GFM1 NM_024996.7(GFM1):c.1305C>G (p.Ala435=)SNV Conflicting interpretations of pathogenicity 763069 3:158378746-158378746 3:158660957-158660957
21 GFM1 NM_024996.5(GFM1):c.193C>A (p.Arg65=)SNV Conflicting interpretations of pathogenicity 559213 rs62286651 3:158363529-158363529 3:158645740-158645740
22 GFM1 NM_024996.5(GFM1):c.373G>A (p.Val125Met)SNV Conflicting interpretations of pathogenicity 343923 rs200923387 3:158364537-158364537 3:158646748-158646748
23 GFM1 NM_024996.5(GFM1):c.1324-15T>ASNV Conflicting interpretations of pathogenicity 343931 rs375168014 3:158380402-158380402 3:158662613-158662613
24 GFM1 NM_001308164.1(GFM1):c.424del (p.Val142fs)deletion Conflicting interpretations of pathogenicity 343924 rs886058120 3:158364588-158364588 3:158646799-158646799
25 GFM1 NM_024996.5(GFM1):c.56C>T (p.Ala19Val)SNV Conflicting interpretations of pathogenicity 343920 rs567086019 3:158362479-158362479 3:158644690-158644690
26 GFM1 NM_024996.5(GFM1):c.235-14G>ASNV Conflicting interpretations of pathogenicity 214478 rs201304690 3:158363940-158363940 3:158646151-158646151
27 GFM1 NM_024996.5(GFM1):c.622G>A (p.Glu208Lys)SNV Conflicting interpretations of pathogenicity 214492 rs191462023 3:158366879-158366879 3:158649090-158649090
28 GFM1 NM_024996.5(GFM1):c.690-5C>GSNV Conflicting interpretations of pathogenicity 214483 rs201685981 3:158369880-158369880 3:158652091-158652091
29 GFM1 NM_024996.5(GFM1):c.-38C>TSNV Conflicting interpretations of pathogenicity 137468 rs377352238 3:158362386-158362386 3:158644597-158644597
30 GFM1 NM_024996.5(GFM1):c.987C>A (p.Leu329=)SNV Conflicting interpretations of pathogenicity 343928 rs531887279 3:158371245-158371245 3:158653456-158653456
31 GFM1 NM_024996.5(GFM1):c.1032C>T (p.Asn344=)SNV Conflicting interpretations of pathogenicity 343929 rs373952002 3:158372369-158372369 3:158654580-158654580
32 GFM1 NM_024996.5(GFM1):c.2190C>T (p.Asp730=)SNV Conflicting interpretations of pathogenicity 343937 rs149049400 3:158409190-158409190 3:158691401-158691401
33 GFM1 NM_024996.5(GFM1):c.1494A>G (p.Glu498=)SNV Conflicting interpretations of pathogenicity 377921 rs149454742 3:158383239-158383239 3:158665450-158665450
34 GFM1 NM_024996.5(GFM1):c.829dup (p.Ser277fs)duplication Uncertain significance 374695 rs771865940 3:158370021-158370022 3:158652232-158652233
35 GFM1 NM_024996.5(GFM1):c.*559T>CSNV Uncertain significance 343944 rs886058124 3:158409815-158409815 3:158692026-158692026
36 GFM1 NM_024996.5(GFM1):c.*578C>TSNV Uncertain significance 343945 rs758670778 3:158409834-158409834 3:158692045-158692045
37 GFM1 NM_024996.5(GFM1):c.*119G>ASNV Uncertain significance 343939 rs886058122 3:158409375-158409375 3:158691586-158691586
38 GFM1 NM_024996.5(GFM1):c.1385A>G (p.Asp462Gly)SNV Uncertain significance 343934 rs886058121 3:158383130-158383130 3:158665341-158665341
39 GFM1 NM_024996.5(GFM1):c.*950C>TSNV Uncertain significance 343950 rs372706819 3:158410206-158410206 3:158692417-158692417
40 GFM1 NM_024996.5(GFM1):c.81+5C>TSNV Uncertain significance 343921 rs886058119 3:158362509-158362509 3:158644720-158644720
41 GFM1 NM_024996.5(GFM1):c.234+12C>TSNV Uncertain significance 343922 rs372189223 3:158363582-158363582 3:158645793-158645793
42 GFM1 NM_024996.5(GFM1):c.1083+3A>GSNV Uncertain significance 343930 rs187690169 3:158372423-158372423 3:158654634-158654634
43 GFM1 NM_024996.5(GFM1):c.*245A>CSNV Uncertain significance 343941 rs886058123 3:158409501-158409501 3:158691712-158691712
44 GFM1 NM_024996.5(GFM1):c.1831C>T (p.Leu611=)SNV Uncertain significance 343936 rs190393538 3:158402379-158402379 3:158684590-158684590
45 GFM1 NM_024996.5(GFM1):c.702A>G (p.Arg234=)SNV Uncertain significance 343926 rs377418512 3:158369897-158369897 3:158652108-158652108
46 GFM1 NM_024996.5(GFM1):c.897C>T (p.Ser299=)SNV Uncertain significance 343927 rs763546447 3:158371155-158371155 3:158653366-158653366
47 GFM1 NM_024996.5(GFM1):c.1406G>A (p.Gly469Asp)SNV Uncertain significance 343935 rs750855220 3:158383151-158383151 3:158665362-158665362
48 GFM1 NM_024996.5(GFM1):c.*1004T>CSNV Uncertain significance 343951 rs190120734 3:158410260-158410260 3:158692471-158692471
49 MRPS22 NM_020191.3(MRPS22):c.508C>T (p.Arg170Cys)SNV Uncertain significance 587534 rs948280864 3:139069024-139069024 3:139350182-139350182
50 VARS2 NM_001167734.1(VARS2):c.3188C>T (p.Ser1063Phe)SNV Uncertain significance 587592 rs1562465419 6:30893893-30893893 6:30926116-30926116

UniProtKB/Swiss-Prot genetic disease variations for Combined Oxidative Phosphorylation Deficiency 1:

73
# Symbol AA change Variation ID SNP ID
1 GFM1 p.Asn174Ser VAR_021512 rs119470018
2 GFM1 p.Met496Arg VAR_031901 rs119470020
3 GFM1 p.Ser57Tyr VAR_076197 rs125497232
4 GFM1 p.Arg250Trp VAR_076198 rs139430866

Expression for Combined Oxidative Phosphorylation Deficiency 1

Search GEO for disease gene expression data for Combined Oxidative Phosphorylation Deficiency 1.

Pathways for Combined Oxidative Phosphorylation Deficiency 1

Pathways related to Combined Oxidative Phosphorylation Deficiency 1 according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.16 TUFM TSFM MRPS22 MRPL44 GFM2 GFM1
2
Show member pathways
11.66 TUFM TSFM MRPS22 MRPL44 GFM2 GFM1

GO Terms for Combined Oxidative Phosphorylation Deficiency 1

Cellular components related to Combined Oxidative Phosphorylation Deficiency 1 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 mitochondrial matrix GO:0005759 9.56 TSFM NARS2 GFM2 GFM1
2 focal adhesion GO:0005925 9.54 RPL9 RPL31 RPL18
3 ribosome GO:0005840 9.35 RPL9 RPL31 RPL18 MRPS22 MRPL44
4 cytosolic large ribosomal subunit GO:0022625 9.33 RPL9 RPL31 RPL18
5 polysomal ribosome GO:0042788 9.32 RPL31 RPL18
6 mitochondrion GO:0005739 9.23 VARS2 TUFM TSFM NARS2 MRPS22 MRPL44

Biological processes related to Combined Oxidative Phosphorylation Deficiency 1 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 translational initiation GO:0006413 9.63 RPL9 RPL31 RPL18
2 nuclear-transcribed mRNA catabolic process, nonsense-mediated decay GO:0000184 9.61 RPL9 RPL31 RPL18
3 viral transcription GO:0019083 9.58 RPL9 RPL31 RPL18
4 SRP-dependent cotranslational protein targeting to membrane GO:0006614 9.54 RPL9 RPL31 RPL18
5 mitochondrial translational termination GO:0070126 9.5 MRPS22 MRPL44 GFM2
6 tRNA aminoacylation for protein translation GO:0006418 9.48 VARS2 NARS2
7 translational elongation GO:0006414 9.46 TUFM TSFM GFM2 GFM1
8 cytoplasmic translation GO:0002181 9.43 RPL9 RPL31 RPL18
9 mitochondrial translational elongation GO:0070125 9.43 TUFM TSFM MRPS22 MRPL44 GFM2 GFM1
10 translation GO:0006412 9.28 VARS2 TUFM TSFM RPL9 RPL31 RPL18

Molecular functions related to Combined Oxidative Phosphorylation Deficiency 1 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 nucleotide binding GO:0000166 9.8 VARS2 TUFM NARS2 GFM2 GFM1
2 GTP binding GO:0005525 9.54 TUFM GFM2 GFM1
3 GTPase activity GO:0003924 9.5 TUFM GFM2 GFM1
4 RNA binding GO:0003723 9.5 TUFM TSFM RPL9 RPL31 RPL18 MRPL44
5 structural constituent of ribosome GO:0003735 9.46 RPL9 RPL31 RPL18 MRPS22
6 aminoacyl-tRNA ligase activity GO:0004812 9.26 VARS2 NARS2
7 translation elongation factor activity GO:0003746 8.92 TUFM TSFM GFM2 GFM1

Sources for Combined Oxidative Phosphorylation Deficiency 1

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
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