COXPD6
MCID: CMB017
MIFTS: 41

Combined Oxidative Phosphorylation Deficiency 6 (COXPD6)

Categories: Genetic diseases, Metabolic diseases, Muscle diseases, Neuronal diseases, Rare diseases, Respiratory diseases
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Aliases & Classifications for Combined Oxidative Phosphorylation Deficiency 6

MalaCards integrated aliases for Combined Oxidative Phosphorylation Deficiency 6:

Name: Combined Oxidative Phosphorylation Deficiency 6 57 11 73 12 14 71
Severe X-Linked Mitochondrial Encephalomyopathy 11 58 28 5
Coxpd6 57 11 73
Mitochondrial Encephalomyopathy Due to Combined Oxidative Phosphorylation Defect 6 11 58
Mitochondrial Encephalomyopathy Due to Coxpd6 11 58
Oxidative Phosphorylation Deficiency, Combined, Type 6 38
Encephalomyopathy, Mitochondrial, X-Linked 57
Encephalomyopathy Mitochondrial X-Linked 73

Characteristics:


Inheritance:

Combined Oxidative Phosphorylation Deficiency 6: X-linked recessive 57
Severe X-Linked Mitochondrial Encephalomyopathy: X-linked recessive 58

Prevelance:

Severe X-Linked Mitochondrial Encephalomyopathy: <1/1000000 (Worldwide) 58

Age Of Onset:

Severe X-Linked Mitochondrial Encephalomyopathy: Infancy,Neonatal 58

Age Of Death:

Severe X-Linked Mitochondrial Encephalomyopathy: early childhood 58

OMIM®:

57 (Updated 24-Oct-2022)
Miscellaneous:
onset in infancy
progressive disorder
variable severity and features


Classifications:

Orphanet: 58  
Rare neurological diseases
Inborn errors of metabolism


Summaries for Combined Oxidative Phosphorylation Deficiency 6

OMIM®: 57 Combined oxidative phosphorylation deficiency-6 (COXPD6) is an X-linked recessive severe encephalomyopathic disorder with onset in utero or in infancy. Affected patients have hypotonia and severely impaired psychomotor development associated with variably decreased enzymatic activity of mitochondrial respiratory complexes in skeletal muscle or fibroblasts. More variable features may include sensorimotor neuropathy, seizures, severe muscle weakness, abnormal signals in the basal ganglia, hypertrophic cardiomyopathy, deafness, swallowing difficulties, and respiratory insufficiency. Death in childhood may occur (summary by Berger et al., 2011). For a discussion of genetic heterogeneity of combined oxidative phosphorylation deficiency, see COXPD1 (609060). (300816) (Updated 24-Oct-2022)

MalaCards based summary: Combined Oxidative Phosphorylation Deficiency 6, also known as severe x-linked mitochondrial encephalomyopathy, is related to mitochondrial encephalomyopathy and charcot-marie-tooth disease, x-linked recessive, 4, with or without cerebellar ataxia, and has symptoms including muscular fasciculation, seizures and muscle weakness. An important gene associated with Combined Oxidative Phosphorylation Deficiency 6 is AIFM1 (Apoptosis Inducing Factor Mitochondria Associated 1), and among its related pathways/superpathways are Nervous system development and Keratinization. Affiliated tissues include skeletal muscle, tongue and eye, and related phenotypes are delayed speech and language development and skeletal muscle atrophy

Orphanet: 58 Severe X-linked mitochondrial encephalomyopathy is an extremely rare mitochondrial respiratory chain disease resulting in a neurodegenerative disorder characterized by psychomotor delay, hypotonia, areflexia, muscle weakness and wasting in the two patients reported to date.

UniProtKB/Swiss-Prot: 73 A mitochondrial disease resulting in a neurodegenerative disorder characterized by psychomotor delay, hypotonia, areflexia, muscle weakness and wasting. Some patients manifest prenatal ventriculomegaly and severe postnatal encephalomyopathy.

Disease Ontology: 11 A combined oxidative phosphorylation deficiency that has material basis in hemizygous mutation in AIFM1 on chromosome Xq26.1.

Related Diseases for Combined Oxidative Phosphorylation Deficiency 6

Diseases related to Combined Oxidative Phosphorylation Deficiency 6 via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 27)
# Related Disease Score Top Affiliating Genes
1 mitochondrial encephalomyopathy 30.1 NDUFS4 BCS1L AIFM1
2 charcot-marie-tooth disease, x-linked recessive, 4, with or without cerebellar ataxia 10.3 RAB33A AIFM1
3 spondyloepimetaphyseal dysplasia, x-linked, with hypomyelinating leukodystrophy 10.3 RAB33A AIFM1
4 deafness, x-linked 5, with peripheral neuropathy 10.2 RAB33A AIFM1
5 charcot-marie-tooth disease type x 10.2 CHCHD4 AIFM1
6 indeterminate leprosy 10.2 KRTAP5-8 KRTAP5-2
7 turner syndrome 10.2
8 mitochondrial dna-associated leigh syndrome and narp 10.2
9 nuclear gene-encoded leigh syndrome spectrum 10.2
10 combined oxidative phosphorylation deficiency 30 10.1 TRMT10C NALCN
11 mitochondrial dna depletion syndrome 9 10.0 NDUFS4 CHCHD4
12 linear skin defects with multiple congenital anomalies 2 10.0 COX7B BCS1L
13 leukodystrophy 9.9 RAB33A PRODH NDUFS4 AIFM1
14 bjornstad syndrome 9.9 COX7B BCS1L
15 naegeli-franceschetti-jadassohn syndrome 9.9 KRT84 KRT82
16 neuropathy, ataxia, and retinitis pigmentosa 9.7 SCO2 NDUFS4
17 mitochondrial disease 9.6 TRMT10C SCO2 NDUFS4 AIFM1
18 mitochondrial dna depletion syndrome 3 9.6 SCO2 BCS1L
19 mitochondrial metabolism disease 9.5 SCO2 PRODH NDUFS4 BCS1L
20 mitochondrial dna depletion syndrome 9.5 SCO2 PRODH NDUFS4 BCS1L
21 kearns-sayre syndrome 9.5 SCO2 NDUFS4 BCS1L
22 leigh syndrome 9.4 SCO2 PRODH NDUFS4 BCS1L
23 mitochondrial myopathy 9.4 SCO2 PRODH NDUFS4 CHCHD4 BCS1L
24 lactic acidosis 9.4 TRMT10C SCO2 PRODH NDUFS4 BCS1L
25 mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes 9.4 SCO2 NDUFS4 COX7B BCS1L
26 leber hereditary optic neuropathy, modifier of 9.3 SCO2 NDUFS4 BCS1L
27 charcot-marie-tooth disease x-linked recessive 4 8.8 RAB33A NDUFS4 KRTAP9-1 KRTAP5-8 KRTAP5-2 KRTAP4-7

Graphical network of the top 20 diseases related to Combined Oxidative Phosphorylation Deficiency 6:



Diseases related to Combined Oxidative Phosphorylation Deficiency 6

Symptoms & Phenotypes for Combined Oxidative Phosphorylation Deficiency 6

Human phenotypes related to Combined Oxidative Phosphorylation Deficiency 6:

58 30 (show all 34)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 delayed speech and language development 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0000750
2 skeletal muscle atrophy 58 30 Very rare (1%) Very frequent (99-80%)
HP:0003202
3 areflexia 58 30 Very rare (1%) Very frequent (99-80%)
HP:0001284
4 severe muscular hypotonia 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0006829
5 moderate global developmental delay 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0011343
6 generalized muscle weakness 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0003324
7 generalized hypotonia 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0001290
8 increased variability in muscle fiber diameter 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0003557
9 abnormal corpus striatum morphology 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0010994
10 sensory axonal neuropathy 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0003390
11 respiratory insufficiency 58 30 Frequent (33%) Frequent (79-30%)
HP:0002093
12 developmental regression 58 30 Very rare (1%) Frequent (79-30%)
HP:0002376
13 irritability 58 30 Very rare (1%) Frequent (79-30%)
HP:0000737
14 increased serum lactate 58 30 Very rare (1%) Frequent (79-30%)
HP:0002151
15 increased csf lactate 58 30 Very rare (1%) Frequent (79-30%)
HP:0002490
16 increased serum pyruvate 58 30 Very rare (1%) Frequent (79-30%)
HP:0003542
17 respiratory distress 58 30 Frequent (33%) Frequent (79-30%)
HP:0002098
18 hypokinesia 58 30 Very rare (1%) Frequent (79-30%)
HP:0002375
19 increased connective tissue 58 30 Frequent (33%) Frequent (79-30%)
HP:0009025
20 tongue fasciculations 58 30 Very rare (1%) Frequent (79-30%)
HP:0001308
21 feeding difficulties in infancy 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0008872
22 tetraplegia 30 Very rare (1%) HP:0002445
23 global developmental delay 30 Very rare (1%) HP:0001263
24 respiratory insufficiency due to muscle weakness 30 Very rare (1%) HP:0002747
25 ragged-red muscle fibers 30 Very rare (1%) HP:0003200
26 polyneuropathy 30 Very rare (1%) HP:0001271
27 generalized-onset seizure 30 Very rare (1%) HP:0002197
28 motor polyneuropathy 30 Very rare (1%) HP:0007178
29 decreased activity of mitochondrial complex iv 30 Very rare (1%) HP:0008347
30 hypotonia 30 Very rare (1%) HP:0001252
31 involuntary movements 58 Frequent (79-30%)
32 peripheral neuropathy 58 Very frequent (99-80%)
33 hyporeflexia 30 HP:0001265
34 abnormal basal ganglia morphology 30 HP:0002134

Symptoms via clinical synopsis from OMIM®:

57 (Updated 24-Oct-2022)
Neurologic Central Nervous System:
seizures
tetraplegia
involuntary movements
fasciculations
encephalopathy
more
Cardiovascular Heart:
hypertrophic cardiomyopathy

Head And Neck Eyes:
poor eye contact

Head And Neck Ears:
hearing loss (in some patients)

Laboratory Abnormalities:
increased lactate in serum and csf
increased pyruvate in serum and csf

Muscle Soft Tissue:
muscle weakness
muscle atrophy
mitochondrial dna depletion (20 to 35% of normal) seen on skeletal muscle biopsy (in some patients)
decreased activity of multiple mitochondrial respiratory complex enzymes
ragged-red fibers
more
Respiratory:
respiratory insufficiency due to muscle weakness

Abdomen Gastrointestinal:
feeding difficulties
tube feeding

Neurologic Peripheral Nervous System:
hyporeflexia or areflexia
sensory and motor axonal polyneuropathy

Clinical features from OMIM®:

300816 (Updated 24-Oct-2022)

UMLS symptoms related to Combined Oxidative Phosphorylation Deficiency 6:


muscular fasciculation; seizures; muscle weakness; involuntary movements

Drugs & Therapeutics for Combined Oxidative Phosphorylation Deficiency 6

Search Clinical Trials, NIH Clinical Center for Combined Oxidative Phosphorylation Deficiency 6

Genetic Tests for Combined Oxidative Phosphorylation Deficiency 6

Genetic tests related to Combined Oxidative Phosphorylation Deficiency 6:

# Genetic test Affiliating Genes
1 Severe X-Linked Mitochondrial Encephalomyopathy 28 AIFM1

Anatomical Context for Combined Oxidative Phosphorylation Deficiency 6

Organs/tissues related to Combined Oxidative Phosphorylation Deficiency 6:

MalaCards : Skeletal Muscle, Tongue, Eye

Publications for Combined Oxidative Phosphorylation Deficiency 6

Articles related to Combined Oxidative Phosphorylation Deficiency 6:

# Title Authors PMID Year
1
Severe X-linked mitochondrial encephalomyopathy associated with a mutation in apoptosis-inducing factor. 62 57 5
20362274 2010
2
A novel AIFM1 mutation expands the phenotype to an infantile motor neuron disease. 57 5
26173962 2016
3
From ventriculomegaly to severe muscular atrophy: expansion of the clinical spectrum related to mutations in AIFM1. 57 5
25583628 2015
4
Early prenatal ventriculomegaly due to an AIFM1 mutation identified by linkage analysis and whole exome sequencing. 57 5
22019070 2011
5
Spondyloepimetaphyseal dysplasia with neurodegeneration associated with AIFM1 mutation - a novel phenotype of the mitochondrial disease. 62
27102849 2017

Variations for Combined Oxidative Phosphorylation Deficiency 6

ClinVar genetic disease variations for Combined Oxidative Phosphorylation Deficiency 6:

5 (show all 38)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 RAB33A, AIFM1 NM_004208.4(AIFM1):c.1436A>G (p.Gln479Arg) SNV Pathogenic
369972 rs1057516211 GRCh37: X:129267300-129267300
GRCh38: X:130133325-130133325
2 RAB33A, AIFM1 NM_004208.4(AIFM1):c.923G>A (p.Gly308Glu) SNV Pathogenic
732658 rs1603224226 GRCh37: X:129272612-129272612
GRCh38: X:130138637-130138637
3 RAB33A, AIFM1 NM_004208.4(AIFM1):c.1013G>A (p.Gly338Glu) SNV Pathogenic
732668 rs1603223152 GRCh37: X:129271115-129271115
GRCh38: X:130137140-130137140
4 RAB33A, AIFM1 NM_004208.4(AIFM1):c.727G>T (p.Val243Leu) SNV Pathogenic
732675 rs1603225138 GRCh37: X:129274562-129274562
GRCh38: X:130140587-130140587
5 RAB33A, AIFM1 NM_004208.4(AIFM1):c.603_605del (p.Arg201del) DEL Pathogenic
11546 rs387906500 GRCh37: X:129281468-129281470
GRCh38: X:130147493-130147495
6 RAB33A, AIFM1 NM_004208.4(AIFM1):c.1164+5G>A SNV Pathogenic
1343826 GRCh37: X:129270613-129270613
GRCh38: X:130136638-130136638
7 RAB33A, AIFM1 NM_004208.4(AIFM1):c.506C>T (p.Pro169Leu) SNV Likely Pathogenic
982823 rs2030801584 GRCh37: X:129281567-129281567
GRCh38: X:130147592-130147592
8 RAB33A, AIFM1 NM_004208.4(AIFM1):c.147G>C (p.Gln49His) SNV Uncertain Significance
1028702 rs867606904 GRCh37: X:129290537-129290537
GRCh38: X:130156563-130156563
9 RAB33A, AIFM1 NM_004208.4(AIFM1):c.1227TGG[1] (p.Gly411del) MICROSAT Uncertain Significance
1179012 GRCh37: X:129270093-129270095
GRCh38: X:130136118-130136120
10 RAB33A, AIFM1 NM_004208.4(AIFM1):c.858+13T>G SNV Uncertain Significance
913253 rs769724106 GRCh37: X:129273757-129273757
GRCh38: X:130139782-130139782
11 RAB33A, AIFM1 NM_004208.4(AIFM1):c.697-4C>T SNV Uncertain Significance
913254 rs2030541270 GRCh37: X:129274596-129274596
GRCh38: X:130140621-130140621
12 RAB33A, AIFM1 NM_004208.4(AIFM1):c.248A>G (p.Tyr83Cys) SNV Uncertain Significance
914370 rs1488258655 GRCh37: X:129290436-129290436
GRCh38: X:130156462-130156462
13 RAB33A, AIFM1 NM_004208.4(AIFM1):c.-90G>C SNV Uncertain Significance
914371 rs780436043 GRCh37: X:129299720-129299720
GRCh38: X:130165746-130165746
14 RAB33A, AIFM1 NM_004208.4(AIFM1):c.*49C>T SNV Uncertain Significance
367888 rs1057515766 GRCh37: X:129263483-129263483
GRCh38: X:130129508-130129508
15 RAB33A, AIFM1 NM_004208.4(AIFM1):c.-140C>G SNV Uncertain Significance
367895 rs770737305 GRCh37: X:129299770-129299770
GRCh38: X:130165796-130165796
16 RAB33A, AIFM1 NM_004208.4(AIFM1):c.1647A>G (p.Ala549=) SNV Uncertain Significance
367889 rs1057515767 GRCh37: X:129264068-129264068
GRCh38: X:130130093-130130093
17 RAB33A, AIFM1 NM_004208.4(AIFM1):c.1355T>C (p.Val452Ala) SNV Uncertain Significance
912874 rs1356446773 GRCh37: X:129267381-129267381
GRCh38: X:130133406-130133406
18 RAB33A, AIFM1 NM_004208.4(AIFM1):c.170C>G (p.Ser57Cys) SNV Uncertain Significance
445310 rs201711375 GRCh37: X:129290514-129290514
GRCh38: X:130156540-130156540
19 RAB33A, AIFM1 NM_004208.4(AIFM1):c.452G>A (p.Arg151Gln) SNV Uncertain Significance
214082 rs752742151 GRCh37: X:129281749-129281749
GRCh38: X:130147774-130147774
20 RAB33A, AIFM1 NM_004208.4(AIFM1):c.-185G>A SNV Uncertain Significance
367897 rs770317876 GRCh37: X:129299815-129299815
GRCh38: X:130165841-130165841
21 RAB33A, AIFM1 NM_004208.4(AIFM1):c.1644G>A (p.Pro548=) SNV Likely Benign
377456 rs150821143 GRCh37: X:129264071-129264071
GRCh38: X:130130096-130130096
22 RAB33A, AIFM1 NM_004208.4(AIFM1):c.366A>G (p.Glu122=) SNV Likely Benign
367891 rs756883753 GRCh37: X:129281835-129281835
GRCh38: X:130147860-130147860
23 RAB33A, AIFM1 NM_004208.4(AIFM1):c.340G>A (p.Ala114Thr) SNV Likely Benign
857026 rs772308346 GRCh37: X:129283453-129283453
GRCh38: X:130149478-130149478
24 RAB33A, AIFM1 NM_004208.4(AIFM1):c.1047C>T (p.Ser349=) SNV Likely Benign
214080 rs781350745 GRCh37: X:129271081-129271081
GRCh38: X:130137106-130137106
25 RAB33A, AIFM1 NM_004208.4(AIFM1):c.606-15C>T SNV Benign
367890 rs191297808 GRCh37: X:129279559-129279559
GRCh38: X:130145584-130145584
26 RAB33A, AIFM1 NM_004208.4(AIFM1):c.262A>G (p.Met88Val) SNV Benign
367893 rs750098055 GRCh37: X:129283531-129283531
GRCh38: X:130149556-130149556
27 RAB33A, AIFM1 NM_004208.4(AIFM1):c.-165G>A SNV Benign
367896 rs759015293 GRCh37: X:129299795-129299795
GRCh38: X:130165821-130165821
28 RAB33A, AIFM1 NM_004208.4(AIFM1):c.968-14T>A SNV Benign
912875 rs201991839 GRCh37: X:129271174-129271174
GRCh38: X:130137199-130137199
29 RAB33A, AIFM1 NM_004208.4(AIFM1):c.1833T>C (p.His611=) SNV Benign
136325 rs73556209 GRCh37: X:129263541-129263541
GRCh38: X:130129566-130129566
30 RAB33A, AIFM1 NM_004208.4(AIFM1):c.1227T>G (p.Thr409=) SNV Benign
543932 rs61730898 GRCh37: X:129270098-129270098
GRCh38: X:130136123-130136123
31 RAB33A, AIFM1 NM_004208.4(AIFM1):c.597A>G (p.Lys199=) SNV Benign
913255 rs143670174 GRCh37: X:129281476-129281476
GRCh38: X:130147501-130147501
32 RAB33A, AIFM1 NM_004208.4(AIFM1):c.996A>G (p.Gln332=) SNV Benign
136322 rs12007545 GRCh37: X:129271132-129271132
GRCh38: X:130137157-130137157
33 RAB33A, AIFM1 NM_004208.4(AIFM1):c.1329C>T (p.Tyr443=) SNV Benign
136323 rs143792929 GRCh37: X:129267407-129267407
GRCh38: X:130133432-130133432
34 RAB33A, AIFM1 NM_004208.4(AIFM1):c.918C>T (p.Ile306=) SNV Benign
136320 rs12014115 GRCh37: X:129272617-129272617
GRCh38: X:130138642-130138642
35 RAB33A, AIFM1 NM_004208.4(AIFM1):c.103C>T (p.Pro35Ser) SNV Benign
136326 rs61730896 GRCh37: X:129299528-129299528
GRCh38: X:130165554-130165554
36 RAB33A, AIFM1 NM_004208.4(AIFM1):c.273T>C (p.Asp91=) SNV Benign
367892 rs1139851 GRCh37: X:129283520-129283520
GRCh38: X:130149545-130149545
37 RAB33A, AIFM1 NM_004208.4(AIFM1):c.72C>T (p.Cys24=) SNV Benign
367894 rs373609902 GRCh37: X:129299559-129299559
GRCh38: X:130165585-130165585
38 RAB33A, AIFM1 NM_004208.4(AIFM1):c.1416T>C (p.Ala472=) SNV Benign
136324 rs141324245 GRCh37: X:129267320-129267320
GRCh38: X:130133345-130133345

UniProtKB/Swiss-Prot genetic disease variations for Combined Oxidative Phosphorylation Deficiency 6:

73
# Symbol AA change Variation ID SNP ID
1 AIFM1 p.Gly308Glu VAR_067334 rs1603224226
2 AIFM1 p.Val243Leu VAR_072791 rs1603225138
3 AIFM1 p.Gly338Glu VAR_083068 rs1603223152

Expression for Combined Oxidative Phosphorylation Deficiency 6

Search GEO for disease gene expression data for Combined Oxidative Phosphorylation Deficiency 6.

Pathways for Combined Oxidative Phosphorylation Deficiency 6

Pathways related to Combined Oxidative Phosphorylation Deficiency 6 according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.85 KRTAP9-1 KRTAP5-8 KRTAP5-2 KRTAP3-3 KRTAP11-1 KRT84
2
Show member pathways
11.7 KRTAP9-1 KRTAP5-8 KRTAP5-2 KRTAP3-3 KRTAP11-1 KRT84

GO Terms for Combined Oxidative Phosphorylation Deficiency 6

Cellular components related to Combined Oxidative Phosphorylation Deficiency 6 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 mitochondrion GO:0005739 10.16 TRMT10C SCO2 PRODH NDUFS4 COX7B CHCHD4
2 mitochondrial inner membrane GO:0005743 9.93 AIFM1 BCS1L COX7B NDUFS4 PRODH SCO2
3 keratin filament GO:0045095 9.77 KRTAP9-1 KRTAP5-8 KRTAP5-2 KRTAP4-7 KRTAP3-3 KRT84
4 intermediate filament GO:0005882 9.28 KRTAP9-1 KRTAP5-8 KRTAP5-2 KRTAP4-7 KRTAP3-3 KRTAP11-1

Biological processes related to Combined Oxidative Phosphorylation Deficiency 6 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 mitochondrial respiratory chain complex I assembly GO:0032981 9.55 NDUFS4 BCS1L AIFM1
2 mitochondrial respiratory chain complex assembly GO:0033108 9.26 CHCHD4 AIFM1
3 protein import into mitochondrial intermembrane space GO:0045041 8.92 CHCHD4 AIFM1

Molecular functions related to Combined Oxidative Phosphorylation Deficiency 6 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 protein-disulfide reductase activity GO:0015035 9.26 SCO2 CHCHD4
2 structural constituent of skin epidermis GO:0030280 9.1 KRTAP5-8 KRT84 KRT82

Sources for Combined Oxidative Phosphorylation Deficiency 6

2 CDC
6 CNVD
8 Cosmic
9 dbSNP
10 DGIdb
16 EFO
17 ExPASy
18 FMA
19 GARD
27 GO
28 GTR
29 HMDB
30 HPO
31 ICD10
32 ICD10 via Orphanet
33 ICD11
34 ICD9CM
35 IUPHAR
36 LifeMap
38 LOVD
40 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
52 NINDS
53 Novoseek
55 ODiseA
56 OMIM via Orphanet
57 OMIM® (Updated 24-Oct-2022)
61 PubChem
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 Tocris
71 UMLS
72 UMLS via Orphanet
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