MCID: CMB008
MIFTS: 38

Combined Oxidative Phosphorylation Deficiency

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

Aliases & Classifications for Combined Oxidative Phosphorylation Deficiency

MalaCards integrated aliases for Combined Oxidative Phosphorylation Deficiency:

Name: Combined Oxidative Phosphorylation Deficiency 12 52 36 29 6 15 39

Classifications:



External Ids:

Disease Ontology 12 DOID:0060286
KEGG 36 H00891

Summaries for Combined Oxidative Phosphorylation Deficiency

NIH Rare Diseases : 52 Combined oxidative phosphorylation deficiency is a disease that affects many parts of the body. Onset occurs at or soon after birth in most cases, and features can include growth retardation, small head (microcephaly ), increased muscle tone, floppiness of the trunk and head, brain disease (encephalopathy ), enlarged heart muscle (cardiomyopathy ), and liver dysfunction. There are many subtypes, caused by many different gene mutations . It is inherited in an autosomal recessive pattern. Treatment is supportive.

MalaCards based summary : Combined Oxidative Phosphorylation Deficiency is related to combined oxidative phosphorylation deficiency 1 and lactic acidosis. An important gene associated with Combined Oxidative Phosphorylation Deficiency 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 heart, and related phenotypes are Increased vaccinia virus (VACV) infection and mortality/aging

Disease Ontology : 12 A mitochondrial metabolism disease that is characterized by growth retardation, microcephaly, hypertonia, encephalopathy, cardiomyopathy and liver dysfunction.

KEGG : 36 Combined oxidative phosphorylation deficiency (COXPD) is a group of multisystem disorders with variable manifestations resulting from a defect in the mitochondrial oxidative phosphorylation system. It has been reported that the mutations in the ribosomal protein gene (MRPS16 and MRPS22) cause severe antenatal-onset infantile disease. The patients with COXPD caused by mutations in mitochondrial translation elongation factor genes (GFM1, TUFM, TSFM and C12orf65) have also been reported.

Related Diseases for Combined Oxidative Phosphorylation Deficiency

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

(show top 50) (show all 56)
# Related Disease Score Top Affiliating Genes
1 combined oxidative phosphorylation deficiency 1 34.3 VARS2 NARS2 MRPS22 GFM1
2 lactic acidosis 29.1 TUFM RMND1 MTO1 LYRM4 FARS2
3 combined oxidative phosphorylation deficiency 4 13.0
4 combined oxidative phosphorylation deficiency 12 13.0
5 combined oxidative phosphorylation deficiency 8 12.9
6 combined oxidative phosphorylation deficiency 10 12.9
7 combined oxidative phosphorylation deficiency 11 12.9
8 combined oxidative phosphorylation deficiency 15 12.9
9 combined oxidative phosphorylation deficiency 16 12.9
10 combined oxidative phosphorylation deficiency 3 12.9
11 combined oxidative phosphorylation deficiency 6 12.9
12 combined oxidative phosphorylation deficiency 14 12.9
13 combined oxidative phosphorylation deficiency 18 12.9
14 combined oxidative phosphorylation deficiency 2 12.9
15 combined oxidative phosphorylation deficiency 5 12.9
16 combined oxidative phosphorylation deficiency 7 12.9
17 combined oxidative phosphorylation deficiency 9 12.9
18 combined oxidative phosphorylation deficiency 13 12.9
19 combined oxidative phosphorylation deficiency 23 12.9
20 combined oxidative phosphorylation deficiency 24 12.9
21 combined oxidative phosphorylation deficiency 33 12.9
22 combined oxidative phosphorylation deficiency 34 12.9
23 combined oxidative phosphorylation deficiency 17 12.9
24 combined oxidative phosphorylation deficiency 19 12.9
25 combined oxidative phosphorylation deficiency 21 12.9
26 combined oxidative phosphorylation deficiency 28 12.9
27 combined oxidative phosphorylation deficiency 31 12.9
28 combined oxidative phosphorylation deficiency 32 12.9
29 combined oxidative phosphorylation deficiency 35 12.9
30 combined oxidative phosphorylation deficiency 37 12.9
31 combined oxidative phosphorylation deficiency 39 12.9
32 combined oxidative phosphorylation deficiency 20 12.9
33 combined oxidative phosphorylation deficiency 22 12.9
34 combined oxidative phosphorylation deficiency 30 12.9
35 combined oxidative phosphorylation deficiency 25 12.9
36 combined oxidative phosphorylation deficiency 26 12.9
37 combined oxidative phosphorylation deficiency 27 12.9
38 combined oxidative phosphorylation deficiency 29 12.9
39 combined oxidative phosphorylation deficiency 36 12.9
40 combined oxidative phosphorylation deficiency 38 12.9
41 fars2 deficiency 11.4
42 charcot-marie-tooth disease, axonal, type 2n 10.2 VARS2 AARS2
43 mitochondrial oxidative phosphorylation disorder 10.1 RMND1 MTO1
44 chromosome 6pter-p24 deletion syndrome 10.1 LYRM4 FARS2
45 mitochondrial disorders 10.1
46 mitochondrial encephalomyopathy 10.0 MTO1 FARS2 AIFM1 AARS2
47 neuropathy, hereditary motor and sensory, type via, with optic atrophy 10.0 MRPS16 C12orf65
48 atrial standstill 1 9.9
49 dilated cardiomyopathy 9.9
50 encephalopathy 9.9

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



Diseases related to Combined Oxidative Phosphorylation Deficiency

Symptoms & Phenotypes for Combined Oxidative Phosphorylation Deficiency

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

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Increased vaccinia virus (VACV) infection GR00249-S 9.6 AARS2 AIFM1 C12orf65 EARS2 ELAC2 FARS2

MGI Mouse Phenotypes related to Combined Oxidative Phosphorylation Deficiency:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 mortality/aging MP:0010768 9.5 AARS2 AIFM1 EARS2 ELAC2 FARS2 GFM1

Drugs & Therapeutics for Combined Oxidative Phosphorylation Deficiency

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

Genetic Tests for Combined Oxidative Phosphorylation Deficiency

Genetic tests related to Combined Oxidative Phosphorylation Deficiency:

# Genetic test Affiliating Genes
1 Combined Oxidative Phosphorylation Deficiency 29

Anatomical Context for Combined Oxidative Phosphorylation Deficiency

MalaCards organs/tissues related to Combined Oxidative Phosphorylation Deficiency:

40
Liver, Brain, Heart, B Cells

Publications for Combined Oxidative Phosphorylation Deficiency

Articles related to Combined Oxidative Phosphorylation Deficiency:

(show all 22)
# Title Authors PMID Year
1
[Clinical and genetic characteristics of 62 children with mitochondrial epilepsy]. 61
31665838 2019
2
A patient with juvenile-onset refractory status epilepticus caused by two novel compound heterozygous mutations in FARS2 gene. 61
31329004 2019
3
The combination of whole-exome sequencing and clinical analysis allows better diagnosis of rare syndromic retinal dystrophies. 61
30925032 2019
4
A novel TUFM homozygous variant in a child with mitochondrial cardiomyopathy expands the phenotype of combined oxidative phosphorylation deficiency 4. 61
30903008 2019
5
Implications of the mitochondrial interactome of mammalian thioredoxin 2 for normal cellular function and disease. 61
31018154 2019
6
Is PNPT1-related hearing loss ever non-syndromic? Whole exome sequencing of adult siblings expands the natural history of PNPT1-related disorders. 61
30244537 2018
7
Expanding the Phenotype of the Founder South Asian Mutation in the Nuclear Encoding Mitochondrial RMND1 Gene. 61
29071585 2018
8
Mitochondrial Encephalopathy: First Portuguese Report of a VARS2 Causative Variant. 61
29478218 2018
9
Retinopathy and optic atrophy: Expanding the phenotypic spectrum of pathogenic variants in the AARS2 gene. 61
28820624 2018
10
The genotypic and phenotypic spectrum of MTO1 deficiency. 61
29331171 2018
11
The First Korean case of combined oxidative phosphorylation deficiency-17 diagnosed by clinical and molecular investigation. 61
29302266 2017
12
Rapid Targeted Genomics in Critically Ill Newborns. 61
28939701 2017
13
COXPD9 an Evolving Multisystem Disease; Congenital Lactic Acidosis, Sensorineural Hearing Loss, Hypertrophic Cardiomyopathy, Cirrhosis and Interstitial Nephritis. 61
27815843 2017
14
Mitochondrial iron-sulfur cluster biogenesis from molecular understanding to clinical disease. 61
28064324 2017
15
The homozygous R504C mutation in MTO1 gene is responsible for ONCE syndrome. 61
27256614 2017
16
Clinical findings in a patient with FARS2 mutations and early-infantile-encephalopathy with epilepsy. 61
27549011 2016
17
A novel AIFM1 mutation expands the phenotype to an infantile motor neuron disease. 61
26173962 2016
18
Methionyl-tRNA Formyltransferase (MTFMT) Deficiency Mimicking Acquired Demyelinating Disease. 61
26060307 2016
19
Mutations in FARS2 and non-fatal mitochondrial dysfunction in two siblings. 61
25851414 2015
20
Biochemical characterization of pathogenic mutations in human mitochondrial methionyl-tRNA formyltransferase. 61
25288793 2014
21
Optic atrophy and a Leigh-like syndrome due to mutations in the c12orf65 gene: report of a novel mutation and review of the literature. 61
24284555 2014
22
Mutant mitochondrial elongation factor G1 and combined oxidative phosphorylation deficiency. 61
15537906 2004

Variations for Combined Oxidative Phosphorylation Deficiency

ClinVar genetic disease variations for Combined Oxidative Phosphorylation Deficiency:

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# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 GFM1 NM_024996.5(GFM1):c.748C>T (p.Arg250Trp)SNV Pathogenic/Likely pathogenic 30598 rs139430866 3:158369943-158369943 3:158652154-158652154
2 MRPS22 NM_020191.3(MRPS22):c.617C>T (p.Thr206Ile)SNV Conflicting interpretations of pathogenicity 214683 rs76148008 3:139069133-139069133 3:139350291-139350291
3 AIFM1 NM_004208.4(AIFM1):c.1047C>T (p.Ser349=)SNV Conflicting interpretations of pathogenicity 214080 rs781350745 X:129271081-129271081 X:130137106-130137106
4 GFM1 NM_024996.5(GFM1):c.235-14G>ASNV Conflicting interpretations of pathogenicity 214478 rs201304690 3:158363940-158363940 3:158646151-158646151
5 GFM1 NM_024996.5(GFM1):c.622G>A (p.Glu208Lys)SNV Conflicting interpretations of pathogenicity 214492 rs191462023 3:158366879-158366879 3:158649090-158649090
6 GFM1 NM_024996.5(GFM1):c.960A>C (p.Pro320=)SNV Conflicting interpretations of pathogenicity 214485 rs145970222 3:158371218-158371218 3:158653429-158653429
7 AARS2 NM_020745.4(AARS2):c.1192G>A (p.Ala398Thr)SNV Conflicting interpretations of pathogenicity 213953 rs202171981 6:44274125-44274125 6:44306388-44306388
8 AARS2 NM_020745.4(AARS2):c.268G>C (p.Val90Leu)SNV Conflicting interpretations of pathogenicity 213948 rs863223860 6:44279976-44279976 6:44312239-44312239
9 MRPS16 NM_016065.4(MRPS16):c.389C>G (p.Thr130Arg)SNV Conflicting interpretations of pathogenicity 214673 rs117510230 10:75010635-75010635 10:73250877-73250877
10 MRPS16 NM_016065.4(MRPS16):c.112C>A (p.His38Asn)SNV Conflicting interpretations of pathogenicity 214670 rs116157972 10:75011683-75011683 10:73251925-73251925
11 TUFM NM_003321.5(TUFM):c.1292A>G (p.Asn431Ser)SNV Conflicting interpretations of pathogenicity 215313 rs146326033 16:28854372-28854372 16:28843051-28843051
12 AARS2 NM_020745.4(AARS2):c.1196A>G (p.Asn399Ser)SNV Conflicting interpretations of pathogenicity 136228 rs113433939 6:44274121-44274121 6:44306384-44306384
13 AARS2 NM_020745.4(AARS2):c.1752G>A (p.Glu584=)SNV Conflicting interpretations of pathogenicity 136231 rs78525157 6:44272382-44272382 6:44304645-44304645
14 GFM1 NM_024996.5(GFM1):c.1083+6T>GSNV Conflicting interpretations of pathogenicity 137461 rs142919829 3:158372426-158372426 3:158654637-158654637
15 GFM1 NM_024996.5(GFM1):c.127A>G (p.Asn43Asp)SNV Conflicting interpretations of pathogenicity 137462 rs35942089 3:158363463-158363463 3:158645674-158645674
16 GFM1 NM_024996.5(GFM1):c.1601+9G>CSNV Conflicting interpretations of pathogenicity 137463 rs77186707 3:158384184-158384184 3:158666395-158666395
17 GFM1 NM_024996.5(GFM1):c.-38C>TSNV Conflicting interpretations of pathogenicity 137468 rs377352238 3:158362386-158362386 3:158644597-158644597
18 GFM1 NM_024996.5(GFM1):c.568A>C (p.Met190Leu)SNV Conflicting interpretations of pathogenicity 137465 rs75450876 3:158364732-158364732 3:158646943-158646943
19 TSFM NM_005726.6(TSFM):c.361-12T>GSNV Conflicting interpretations of pathogenicity 137763 rs368313488 12:58180811-58180811 12:57787028-57787028
20 TSFM NM_005726.6(TSFM):c.796C>A (p.Leu266Ile)SNV Conflicting interpretations of pathogenicity 235467 rs62000432 12:58190184-58190184 12:57796401-57796401
21 AIFM1 NM_004208.4(AIFM1):c.1388G>T (p.Arg463Ile)SNV Conflicting interpretations of pathogenicity 243069 rs202219398 X:129267348-129267348 X:130133373-130133373
22 MRPS16 NM_016065.4(MRPS16):c.-8G>CSNV Conflicting interpretations of pathogenicity 138249 rs2271909 10:75012248-75012248 10:73252490-73252490
23 EARS2 NM_001308211.1(EARS2):c.280A>G (p.Met94Val)SNV Conflicting interpretations of pathogenicity 290959 rs200139797 16:23563485-23563485 16:23552164-23552164
24 MRPS22 NM_001363857.1(MRPS22):c.864+15deldeletion Conflicting interpretations of pathogenicity 343491 rs372892045 3:139074639-139074639 3:139355797-139355797
25 GFM1 NM_024996.5(GFM1):c.373G>A (p.Val125Met)SNV Conflicting interpretations of pathogenicity 343923 rs200923387 3:158364537-158364537 3:158646748-158646748
26 MRPS22 NM_020191.3(MRPS22):c.90G>A (p.Gln30=)SNV Conflicting interpretations of pathogenicity 343483 rs772766573 3:139062958-139062958 3:139344116-139344116
27 GFM1 NM_024996.5(GFM1):c.1324-15T>ASNV Conflicting interpretations of pathogenicity 343931 rs375168014 3:158380402-158380402 3:158662613-158662613
28 MRPS22 NM_020191.3(MRPS22):c.340-14T>ASNV Conflicting interpretations of pathogenicity 343486 rs377459479 3:139066988-139066988 3:139348146-139348146
29 MRPS22 NM_020191.3(MRPS22):c.327A>G (p.Ala109=)SNV Conflicting interpretations of pathogenicity 343485 rs138148950 3:139065874-139065874 3:139347032-139347032
30 GFM1 NM_024996.5(GFM1):c.56C>T (p.Ala19Val)SNV Conflicting interpretations of pathogenicity 343920 rs567086019 3:158362479-158362479 3:158644690-158644690
31 GFM1 NM_024996.5(GFM1):c.1343A>G (p.Asp448Gly)SNV Conflicting interpretations of pathogenicity 343932 rs146951325 3:158380436-158380436 3:158662647-158662647
32 GFM1 NM_024996.5(GFM1):c.987C>A (p.Leu329=)SNV Conflicting interpretations of pathogenicity 343928 rs531887279 3:158371245-158371245 3:158653456-158653456
33 GFM1 NM_024996.5(GFM1):c.1032C>T (p.Asn344=)SNV Conflicting interpretations of pathogenicity 343929 rs373952002 3:158372369-158372369 3:158654580-158654580
34 GFM1 NM_024996.5(GFM1):c.2190C>T (p.Asp730=)SNV Conflicting interpretations of pathogenicity 343937 rs149049400 3:158409190-158409190 3:158691401-158691401
35 AARS2 NM_020745.4(AARS2):c.1534G>C (p.Asp512His)SNV Conflicting interpretations of pathogenicity 357070 rs146512155 6:44272836-44272836 6:44305099-44305099
36 AARS2 NM_020745.4(AARS2):c.2679C>T (p.Leu893=)SNV Conflicting interpretations of pathogenicity 357058 rs766642839 6:44269121-44269121 6:44301384-44301384
37 AARS2 NM_020745.4(AARS2):c.1661G>A (p.Arg554His)SNV Conflicting interpretations of pathogenicity 357067 rs139280416 6:44272473-44272473 6:44304736-44304736
38 AARS2 NM_020745.4(AARS2):c.*9C>TSNV Conflicting interpretations of pathogenicity 357054 rs772455600 6:44268275-44268275 6:44300538-44300538
39 AARS2 NM_020745.4(AARS2):c.1569C>T (p.Ser523=)SNV Conflicting interpretations of pathogenicity 357069 rs374173311 6:44272801-44272801 6:44305064-44305064
40 AARS2 NM_020745.4(AARS2):c.1084A>T (p.Met362Leu)SNV Conflicting interpretations of pathogenicity 357073 rs147091256 6:44274725-44274725 6:44306988-44306988
41 AARS2 NM_020745.4(AARS2):c.985C>T (p.Arg329Cys)SNV Conflicting interpretations of pathogenicity 357074 rs200187887 6:44275041-44275041 6:44307304-44307304
42 AARS2 NM_020745.4(AARS2):c.761G>C (p.Gly254Ala)SNV Conflicting interpretations of pathogenicity 357080 rs199919912 6:44278169-44278169 6:44310432-44310432
43 AARS2 NM_020745.4(AARS2):c.2007+8C>TSNV Conflicting interpretations of pathogenicity 357064 rs150125794 6:44271910-44271910 6:44304173-44304173
44 MRPS16 NM_016065.4(MRPS16):c.63T>C (p.Leu21=)SNV Conflicting interpretations of pathogenicity 300721 rs376338190 10:75011732-75011732 10:73251974-73251974
45 TSFM NM_005726.6(TSFM):c.271T>G (p.Trp91Gly)SNV Conflicting interpretations of pathogenicity 310010 rs542571914 12:58179985-58179985 12:57786202-57786202
46 TSFM NM_005726.6(TSFM):c.539G>C (p.Gly180Ala)SNV Conflicting interpretations of pathogenicity 310016 rs138534976 12:58186824-58186824 12:57793041-57793041
47 MRPS16 NM_016065.4(MRPS16):c.14-12G>ASNV Conflicting interpretations of pathogenicity 300725 rs11594611 10:75011793-75011793 10:73252035-73252035
48 EARS2 NM_001308211.1(EARS2):c.263C>A (p.Ala88Glu)SNV Conflicting interpretations of pathogenicity 318556 rs201929423 16:23563502-23563502 16:23552181-23552181
49 MRPS16 NM_016065.4(MRPS16):c.96C>T (p.Tyr32=)SNV Conflicting interpretations of pathogenicity 300720 rs201106309 10:75011699-75011699 10:73251941-73251941
50 MRPS16 NM_016065.4(MRPS16):c.59G>A (p.Arg20His)SNV Conflicting interpretations of pathogenicity 300722 rs202242186 10:75011736-75011736 10:73251978-73251978

Expression for Combined Oxidative Phosphorylation Deficiency

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

Pathways for Combined Oxidative Phosphorylation Deficiency

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

# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.36 TUFM TSFM MRPS22 MRPS16 MRPL3 GFM1
2
Show member pathways
11.99 TUFM TSFM MRPS22 MRPS16 MRPL3 GFM1
3
Show member pathways
11.26 VARS2 NARS2 FARS2 EARS2 AARS2

GO Terms for Combined Oxidative Phosphorylation Deficiency

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

# Name GO ID Score Top Affiliating Genes
1 mitochondrion GO:0005739 9.62 VARS2 TUFM TSFM TRIT1 SLC25A26 RMND1
2 mitochondrial matrix GO:0005759 9.56 TSFM TRIT1 NARS2 LYRM4 GFM1 FARS2
3 mitochondrial inner membrane GO:0005743 9.55 SLC25A26 MRPS22 MRPS16 MRPL3 AIFM1
4 mitochondrial small ribosomal subunit GO:0005763 9.26 MRPS22 MRPS16

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

# Name GO ID Score Top Affiliating Genes
1 tRNA processing GO:0008033 9.62 TRIT1 MTO1 FARS2 ELAC2
2 mitochondrial translational termination GO:0070126 9.58 MRPS22 MRPS16 MRPL3
3 translational elongation GO:0006414 9.54 TUFM TSFM GFM1
4 tRNA modification GO:0006400 9.46 TRIT1 AARS2
5 tRNA aminoacylation for protein translation GO:0006418 9.46 VARS2 NARS2 FARS2 EARS2
6 aminoacyl-tRNA metabolism involved in translational fidelity GO:0106074 9.43 VARS2 AARS2
7 tRNA aminoacylation GO:0043039 9.43 FARS2 EARS2 AARS2
8 mitochondrial translational elongation GO:0070125 9.43 TUFM TSFM MRPS22 MRPS16 MRPL3 GFM1
9 translation GO:0006412 9.4 VARS2 TUFM TSFM RMND1 NARS2 MRPS16

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

# Name GO ID Score Top Affiliating Genes
1 RNA binding GO:0003723 9.91 TUFM TSFM PNPT1 MTO1 MRPL3 GFM1
2 structural constituent of ribosome GO:0003735 9.58 MRPS22 MRPS16 MRPL3
3 tRNA binding GO:0000049 9.5 FARS2 EARS2 AARS2
4 aminoacyl-tRNA editing activity GO:0002161 9.37 VARS2 AARS2
5 ligase activity GO:0016874 9.35 VARS2 NARS2 FARS2 EARS2 AARS2
6 translation elongation factor activity GO:0003746 9.33 TUFM TSFM GFM1
7 aminoacyl-tRNA ligase activity GO:0004812 9.02 VARS2 NARS2 FARS2 EARS2 AARS2

Sources for Combined Oxidative Phosphorylation Deficiency

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
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43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
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50 NDF-RT
53 NINDS
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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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