CMT1D
MCID: CHR653
MIFTS: 41

Charcot-Marie-Tooth Disease, Demyelinating, Type 1d (CMT1D)

Categories: Fetal diseases, Genetic diseases, Mental diseases, Muscle diseases, Neuronal diseases, Rare diseases, Skin diseases
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Aliases & Classifications for Charcot-Marie-Tooth Disease, Demyelinating, Type 1d

MalaCards integrated aliases for Charcot-Marie-Tooth Disease, Demyelinating, Type 1d:

Name: Charcot-Marie-Tooth Disease, Demyelinating, Type 1d 57
Charcot-Marie-Tooth Disease Type 1d 11 58 28 5 14
Charcot-Marie-Tooth Disease, Type 1d 57 12 43 71
Cmt1d 57 11 58 73
Hmsn Id 57 11 73
Hmsn1d 57 11 73
Hereditary Motor and Sensory Neuropathy 1d 57 11
Charcot-Marie-Tooth Neuropathy Type 1d 11 73
Charcot-Marie-Tooth Disease Demyelinating Type 1d 73
Hereditary Motor and Sensory Neuropathy Id 73
Charcot-Marie-Tooth Neuropathy, Type 1d 57
Charcot-Marie-Tooth Disease, Type Id 38
Charcot-Marie-Tooth Disease 1d 73

Characteristics:


Inheritance:

Charcot-Marie-Tooth Disease, Demyelinating, Type 1d: Autosomal dominant 57
Charcot-Marie-Tooth Disease Type 1d: Autosomal dominant 58

Age Of Onset:

Charcot-Marie-Tooth Disease Type 1d: Adolescent,Adult,Childhood,Infancy 58

OMIM®:

57 (Updated 08-Dec-2022)
Miscellaneous:
variable severity
onset in first or second decade
usually begins in feet and legs (peroneal distribution)
upper limb involvement may occur later
genetic heterogeneity (see cmt1b, )
allelic disorders with overlapping phenotypes include congenital hypomyelinating neuropathy (chn, ) and dejerine-sottas syndrome (dss, )


Classifications:

Orphanet: 58  
Rare neurological diseases


External Ids:

Disease Ontology 11 DOID:0110150
OMIM® 57 607678
OMIM Phenotypic Series 57 PS118220
ICD10 31 G60.0
MESH via Orphanet 44 C537985
ICD10 via Orphanet 32 G60.0
UMLS via Orphanet 72 C1843247
Orphanet 58 ORPHA101084
MedGen 40 C1843247
UMLS 71 C1843247

Summaries for Charcot-Marie-Tooth Disease, Demyelinating, Type 1d

UniProtKB/Swiss-Prot: 73 A dominant demyelinating form of Charcot-Marie-Tooth disease, a disorder of the peripheral nervous system, characterized by progressive weakness and atrophy, initially of the peroneal muscles and later of the distal muscles of the arms. Charcot-Marie-Tooth disease is classified in two main groups on the basis of electrophysiologic properties and histopathology: primary peripheral demyelinating neuropathies (designated CMT1 when they are dominantly inherited) and primary peripheral axonal neuropathies (CMT2). Demyelinating neuropathies are characterized by severely reduced nerve conduction velocities (less than 38 m/sec), segmental demyelination and remyelination with onion bulb formations on nerve biopsy, slowly progressive distal muscle atrophy and weakness, absent deep tendon reflexes, and hollow feet.

MalaCards based summary: Charcot-Marie-Tooth Disease, Demyelinating, Type 1d, also known as charcot-marie-tooth disease type 1d, is related to roussy-levy hereditary areflexic dystasia and charcot-marie-tooth disease. An important gene associated with Charcot-Marie-Tooth Disease, Demyelinating, Type 1d is EGR2 (Early Growth Response 2), and among its related pathways/superpathways are Neural crest differentiation and Intracellular trafficking proteins involved in CMT neuropathy. Affiliated tissues include skeletal muscle and peripheral nerve, and related phenotypes are peripheral neuropathy and decreased motor nerve conduction velocity

Orphanet: 58 Charcot-Marie-Tooth disease type 1D (CMT1D) is a form of CMT1 (see this term), caused by mutations in the EGR2 gene (10q21.1), with a variable severity and age of onset (from infancy to adulthood), that usually presents with gait abnormalities, progressive wasting and weakness of distal limb muscles, with possible later involvement of proximal muscles, foot deformity and severe reduction in nerve conduction velocity. Additional features may include scoliosis, cranial nerve deficits such as diplopia, and bilateral vocal cord paresis.

OMIM®: 57 For a phenotypic description and a discussion of genetic heterogeneity of autosomal dominant Charcot-Marie-Tooth disease type 1, see CMT1B (118200). (607678) (Updated 08-Dec-2022)

Disease Ontology: 11 A Charcot-Marie-Tooth disease type 1 that has material basis in mutation in the early growth response gene-2 (EGR2).

Related Diseases for Charcot-Marie-Tooth Disease, Demyelinating, Type 1d

Diseases in the Charcot-Marie-Tooth Disease, Demyelinating, Type 1b family:

Charcot-Marie-Tooth Disease, Demyelinating, Type 1a Charcot-Marie-Tooth Disease, Demyelinating, Type 1c
Charcot-Marie-Tooth Disease, Demyelinating, Type 1d Charcot-Marie-Tooth Disease, Demyelinating, Type 1f
Charcot-Marie-Tooth Disease, Demyelinating, Type 4f Charcot-Marie-Tooth Disease, Demyelinating, Type 1g
Charcot-Marie-Tooth Disease, Demyelinating, Type 1i Charcot-Marie-Tooth Disease, Demyelinating, Type 1h
Charcot-Marie-Tooth Disease, Demyelinating, Type 1j

Diseases related to Charcot-Marie-Tooth Disease, Demyelinating, Type 1d via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 95)
# Related Disease Score Top Affiliating Genes
1 roussy-levy hereditary areflexic dystasia 30.8 PMP22 MPZ
2 charcot-marie-tooth disease 26.9 YARS1 SBF2 PRX PMP22 PMP2 NEFL
3 tooth disease 26.9 YARS1 SBF2 PRX PMP22 PMP2 NEFL
4 charcot-marie-tooth disease and deafness 26.9 YARS1 SBF2 PRX PMP22 PMP2 NEFL
5 hereditary sensory neuropathy 10.3
6 argyll robertson pupil 10.3 MPZ EGR2
7 abnormal pupillary function 10.3 MPZ EGR2
8 ulnar neuropathy 10.2 PMP22 MPZ
9 neuromyotonia and axonal neuropathy, autosomal recessive 10.2 MPZ GJB1
10 amyotrophic neuralgia 10.2 PMP22 MPZ
11 nerve compression syndrome 10.2 PMP22 MPZ
12 autoimmune peripheral neuropathy 10.2 PMP2 MPZ
13 chronic inflammatory demyelinating polyradiculoneuropathy 10.2 PMP22 MPZ
14 autoimmune neuropathy 10.2 PMP2 MPZ
15 cortical dysplasia, complex, with other brain malformations 6 10.1 PMP22 LITAF
16 peroneal neuropathy 10.1 PMP22 MPZ LITAF
17 brachial plexus neuropathy 10.1 PMP22 MPZ GJB1
18 charcot-marie-tooth disease x-linked recessive 4 10.1 MPZ GJB1
19 mononeuropathy 10.1 PMP22 MPZ GJB1
20 neuropathy, hereditary sensory and autonomic, type ic 10.1 MPZ LITAF GJB1
21 pelizaeus-merzbacher disease 10.1 PMP22 MPZ GJB1
22 neuronopathy, distal hereditary motor, type iib 10.1 GDAP1 GARS1
23 charcot-marie-tooth disease, axonal, type 2p 10.1 MPZ LITAF GDAP1
24 polyradiculoneuropathy 10.1 PMP22 PMP2 MPZ
25 hypomyelinating leukodystrophy 10.1 PMP22 MPZ GJB1
26 guillain-barre syndrome 10.1 PMP22 PMP2 MPZ
27 neuritis 10.1 PMP22 PMP2 MPZ
28 charcot-marie-tooth disease type 2a2b 10.0 MTMR2 MPZ GDAP1
29 spinal muscular atrophy, distal, autosomal recessive, 1 10.0 MTMR2 GARS1
30 plexopathy 10.0 PMP22 NEFL MPZ
31 charcot-marie-tooth disease, axonal, type 2a1 10.0 MPZ GDAP1 GARS1
32 peripheral demyelinating neuropathy, central dysmyelination, waardenburg syndrome, and hirschsprung disease 10.0 PMP22 MPZ GJB1 EGR2
33 charcot-marie-tooth disease, axonal, type 2w 10.0 YARS1 GARS1
34 friedreich ataxia 10.0 MPZ LITAF GJB1
35 charcot-marie-tooth disease, axonal, type 2u 10.0 YARS1 GARS1
36 usher syndrome, type iiib 10.0 YARS1 GARS1
37 charcot-marie-tooth disease, dominant intermediate d 10.0 YARS1 MPZ GJB1
38 charcot-marie-tooth disease, x-linked recessive, 2 10.0 MPZ LITAF GJB1 EGR2
39 charcot-marie-tooth disease, recessive intermediate b 10.0 YARS1 GARS1
40 waardenburg syndrome, type 4a 10.0 MPZ GJB1
41 charcot-marie-tooth disease, dominant intermediate f 10.0 YARS1 MPZ GDAP1
42 charcot-marie-tooth disease, axonal, type 2t 10.0 SBF2 GDAP1
43 charcot-marie-tooth disease, recessive intermediate a 9.9 YARS1 GJB1 GDAP1
44 charcot-marie-tooth disease, dominant intermediate e 9.9 SBF2 MPZ GDAP1
45 neuropathy, hereditary sensory and autonomic, type iia 9.9 YARS1 LITAF GDAP1
46 autosomal dominant distal hereditary motor neuronopathy 9.9 YARS1 GARS1
47 corneal dystrophy, fleck 9.8 SBF2 MTMR2
48 neuropathy, hereditary sensory, type ie 9.8 SBF2 MPZ GARS1
49 yunis-varon syndrome 9.8 SBF2 MTMR2
50 myopathy, centronuclear, x-linked 9.8 SBF2 MTMR2

Graphical network of the top 20 diseases related to Charcot-Marie-Tooth Disease, Demyelinating, Type 1d:



Diseases related to Charcot-Marie-Tooth Disease, Demyelinating, Type 1d

Symptoms & Phenotypes for Charcot-Marie-Tooth Disease, Demyelinating, Type 1d

Human phenotypes related to Charcot-Marie-Tooth Disease, Demyelinating, Type 1d:

30 (show all 7)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 peripheral neuropathy 30 Very rare (1%) HP:0009830
2 decreased motor nerve conduction velocity 30 Very rare (1%) HP:0003431
3 distal muscle weakness 30 Very rare (1%) HP:0002460
4 foot dorsiflexor weakness 30 Very rare (1%) HP:0009027
5 steppage gait 30 HP:0003376
6 distal amyotrophy 30 HP:0003693
7 upper limb muscle weakness 30 HP:0003484

Symptoms via clinical synopsis from OMIM®:

57 (Updated 08-Dec-2022)
Neurologic Peripheral Nervous System:
distal limb muscle weakness due to peripheral neuropathy
distal limb muscle atrophy due to peripheral neuropathy
'steppage' gait
foot drop
decreased motor nerve conduction velocity (ncv) (less than 38 m/s)

Clinical features from OMIM®:

607678 (Updated 08-Dec-2022)

MGI Mouse Phenotypes related to Charcot-Marie-Tooth Disease, Demyelinating, Type 1d:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 nervous system MP:0003631 9.77 EGR2 GARS1 GDAP1 GJB1 LITAF MPZ
2 behavior/neurological MP:0005386 9.44 EGR2 GARS1 GDAP1 GJB1 LITAF MPZ

Drugs & Therapeutics for Charcot-Marie-Tooth Disease, Demyelinating, Type 1d

Search Clinical Trials, NIH Clinical Center for Charcot-Marie-Tooth Disease, Demyelinating, Type 1d

Cochrane evidence based reviews: charcot-marie-tooth disease, type 1d

Genetic Tests for Charcot-Marie-Tooth Disease, Demyelinating, Type 1d

Genetic tests related to Charcot-Marie-Tooth Disease, Demyelinating, Type 1d:

# Genetic test Affiliating Genes
1 Charcot-Marie-Tooth Disease Type 1d 28 EGR2

Anatomical Context for Charcot-Marie-Tooth Disease, Demyelinating, Type 1d

Organs/tissues related to Charcot-Marie-Tooth Disease, Demyelinating, Type 1d:

MalaCards : Skeletal Muscle
ODiseA: Peripheral Nerve, Skeletal Muscle

Publications for Charcot-Marie-Tooth Disease, Demyelinating, Type 1d

Articles related to Charcot-Marie-Tooth Disease, Demyelinating, Type 1d:

(show all 12)
# Title Authors PMID Year
1
Mutation of a putative protein degradation gene LITAF/SIMPLE in Charcot-Marie-Tooth disease 1C. 57 5
12525712 2003
2
Two missense mutations of EGR2 R359W and GJB1 V136A in a Charcot-Marie-Tooth disease family. 5
15947997 2005
3
EGR2 mutation R359W causes a spectrum of Dejerine-Sottas neuropathy. 5
11523566 2001
4
Functional consequences of mutations in the early growth response 2 gene (EGR2) correlate with severity of human myelinopathies. 5
10369870 1999
5
Mutations in the early growth response 2 (EGR2) gene are associated with hereditary myelinopathies. 57
9537424 1998
6
A novel family with axonal Charcot-Marie-Tooth disease caused by a mutation in the EGR2 gene. 62
30843326 2019
7
Development and validation of the Charcot-Marie-Tooth Disease Infant Scale. 62
30476010 2018
8
Homozygous deletion of an EGR2 enhancer in congenital amyelinating neuropathy. 62
22522483 2012
9
Adult onset Charcot-Marie-Tooth disease type 1D with an Arg381Cys mutation of EGR2. 62
20513111 2010
10
Genetic evaluation of inherited motor/sensory neuropathy. 62
16106622 2004
11
A novel type of hereditary motor and sensory neuropathy characterized by a mild phenotype. 62
10520946 1999
12
Charcot-Marie-Tooth Neuropathy Type 1 – RETIRED CHAPTER, FOR HISTORICAL REFERENCE ONLY 62
20301384 1998

Variations for Charcot-Marie-Tooth Disease, Demyelinating, Type 1d

ClinVar genetic disease variations for Charcot-Marie-Tooth Disease, Demyelinating, Type 1d:

5 (show all 36)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 EGR2 NM_000399.5(EGR2):c.1075C>T (p.Arg359Trp) SNV Pathogenic
16752 rs104894161 GRCh37: 10:64573323-64573323
GRCh38: 10:62813563-62813563
2 EGR2 NM_000399.5(EGR2):c.1142G>A (p.Arg381His) SNV Pathogenic
41008 rs281865137 GRCh37: 10:64573256-64573256
GRCh38: 10:62813496-62813496
3 EGR2 NM_000399.5(EGR2):c.1225C>T (p.Arg409Trp) SNV Pathogenic
16750 rs104894159 GRCh37: 10:64573173-64573173
GRCh38: 10:62813413-62813413
4 EGR2 NM_000399.5(EGR2):c.924C>T (p.Ala308=) SNV Uncertain Significance
300276 rs886047093 GRCh37: 10:64573474-64573474
GRCh38: 10:62813714-62813714
5 EGR2 NM_000399.5(EGR2):c.918C>T (p.Ala306=) SNV Uncertain Significance
300277 rs886047094 GRCh37: 10:64573480-64573480
GRCh38: 10:62813720-62813720
6 EGR2 NM_000399.5(EGR2):c.1360T>G (p.Cys454Gly) SNV Uncertain Significance
300275 rs886047092 GRCh37: 10:64573038-64573038
GRCh38: 10:62813278-62813278
7 EGR2 NM_000399.5(EGR2):c.541C>T (p.Leu181Phe) SNV Uncertain Significance
300278 rs886047095 GRCh37: 10:64573857-64573857
GRCh38: 10:62814097-62814097
8 EGR2 NM_000399.5(EGR2):c.*456G>A SNV Uncertain Significance
300270 rs886047090 GRCh37: 10:64572511-64572511
GRCh38: 10:62812751-62812751
9 EGR2 NM_000399.5(EGR2):c.*919G>C SNV Uncertain Significance
300265 rs886047087 GRCh37: 10:64572048-64572048
GRCh38: 10:62812288-62812288
10 EGR2 NM_000399.5(EGR2):c.*655G>A SNV Uncertain Significance
300268 rs886047089 GRCh37: 10:64572312-64572312
GRCh38: 10:62812552-62812552
11 EGR2 NM_000399.5(EGR2):c.*145T>A SNV Uncertain Significance
300274 rs886047091 GRCh37: 10:64572822-64572822
GRCh38: 10:62813062-62813062
12 EGR2 NM_000399.5(EGR2):c.*646C>T SNV Uncertain Significance
300269 rs555024997 GRCh37: 10:64572321-64572321
GRCh38: 10:62812561-62812561
13 EGR2 NM_000399.5(EGR2):c.-64A>C SNV Uncertain Significance
877688 rs1842261380 GRCh37: 10:64575853-64575853
GRCh38: 10:62816093-62816093
14 EGR2 NM_000399.5(EGR2):c.-299G>A SNV Uncertain Significance
877689 rs1842269401 GRCh37: 10:64576088-64576088
GRCh38: 10:62816328-62816328
15 EGR2 NM_000399.5(EGR2):c.*618T>C SNV Uncertain Significance
878661 rs748486219 GRCh37: 10:64572349-64572349
GRCh38: 10:62812589-62812589
16 EGR2 NM_000399.5(EGR2):c.*230G>T SNV Uncertain Significance
878662 rs1842147977 GRCh37: 10:64572737-64572737
GRCh38: 10:62812977-62812977
17 EGR2 NM_000399.5(EGR2):c.*150A>G SNV Uncertain Significance
878663 rs1055794746 GRCh37: 10:64572817-64572817
GRCh38: 10:62813057-62813057
18 EGR2 NM_000399.5(EGR2):c.*79C>A SNV Uncertain Significance
879262 rs1310299341 GRCh37: 10:64572888-64572888
GRCh38: 10:62813128-62813128
19 EGR2 NM_000399.5(EGR2):c.1084C>T (p.Arg362Ter) SNV Uncertain Significance
548617 rs1554853028 GRCh37: 10:64573314-64573314
GRCh38: 10:62813554-62813554
20 EGR2 NM_000399.5(EGR2):c.380C>T (p.Pro127Leu) SNV Uncertain Significance
638513 rs932803146 GRCh37: 10:64574018-64574018
GRCh38: 10:62814258-62814258
21 EGR2 NM_000399.5(EGR2):c.644C>T (p.Thr215Met) SNV Likely Benign
246013 rs139147487 GRCh37: 10:64573754-64573754
GRCh38: 10:62813994-62813994
22 EGR2 NM_000399.5(EGR2):c.246C>G (p.Val82=) SNV Likely Benign
300279 rs144217451 GRCh37: 10:64574152-64574152
GRCh38: 10:62814392-62814392
23 EGR2 NM_000399.5(EGR2):c.192G>C (p.Met64Ile) SNV Likely Benign
246186 rs146631014 GRCh37: 10:64574206-64574206
GRCh38: 10:62814446-62814446
24 EGR2 NM_000399.5(EGR2):c.457A>C (p.Thr153Pro) SNV Likely Benign
462785 rs202183386 GRCh37: 10:64573941-64573941
GRCh38: 10:62814181-62814181
25 EGR2 NM_000399.5(EGR2):c.-1A>G SNV Likely Benign
300281 rs553201646 GRCh37: 10:64575790-64575790
GRCh38: 10:62816030-62816030
26 EGR2 NM_000399.5(EGR2):c.174C>T (p.Gly58=) SNV Likely Benign
246185 rs143793213 GRCh37: 10:64574224-64574224
GRCh38: 10:62814464-62814464
27 EGR2 NM_000399.5(EGR2):c.1352G>T (p.Gly451Val) SNV Benign/Likely Benign
219918 rs138967272 GRCh37: 10:64573046-64573046
GRCh38: 10:62813286-62813286
28 EGR2 NM_000399.5(EGR2):c.1086A>C (p.Arg362=) SNV Benign
256013 rs45602133 GRCh37: 10:64573312-64573312
GRCh38: 10:62813552-62813552
29 EGR2 NM_000399.5(EGR2):c.169+10G>T SNV Benign
300280 rs114201658 GRCh37: 10:64575611-64575611
GRCh38: 10:62815851-62815851
30 EGR2 NM_000399.5(EGR2):c.627= (p.Pro209=) SNV Benign
285766 rs224083 GRCh37: 10:64573771-64573771
GRCh38: 10:62814011-62814011
31 EGR2 NM_000399.5(EGR2):c.*874A>G SNV Benign
300266 rs61865882 GRCh37: 10:64572093-64572093
GRCh38: 10:62812333-62812333
32 EGR2 NM_000399.5(EGR2):c.*429G>A SNV Benign
300271 rs114237833 GRCh37: 10:64572538-64572538
GRCh38: 10:62812778-62812778
33 EGR2 NM_000399.5(EGR2):c.*287T>A SNV Benign
300273 rs61865883 GRCh37: 10:64572680-64572680
GRCh38: 10:62812920-62812920
34 EGR2 NM_000399.5(EGR2):c.*288G>A SNV Benign
300272 rs117395928 GRCh37: 10:64572679-64572679
GRCh38: 10:62812919-62812919
35 EGR2 NM_000399.5(EGR2):c.1076G>A (p.Arg359Gln) SNV Not Provided
41007 rs281865136 GRCh37: 10:64573322-64573322
GRCh38: 10:62813562-62813562
36 EGR2 NM_000399.5(EGR2):c.1160C>A (p.Thr387Asn) SNV Not Provided
41009 rs281865139 GRCh37: 10:64573238-64573238
GRCh38: 10:62813478-62813478

UniProtKB/Swiss-Prot genetic disease variations for Charcot-Marie-Tooth Disease, Demyelinating, Type 1d:

73
# Symbol AA change Variation ID SNP ID
1 EGR2 p.Asp355Val VAR_007736 rs1589080611
2 EGR2 p.Arg409Trp VAR_007738 rs104894159
3 EGR2 p.Arg359Trp VAR_009874 rs104894161
4 EGR2 p.Arg381His VAR_009875 rs281865137
5 EGR2 p.Arg381Cys VAR_029958 rs1589080524
6 EGR2 p.Asp383Tyr VAR_029959 rs104894160
7 EGR2 p.Glu412Gly VAR_083345 rs749558026

Expression for Charcot-Marie-Tooth Disease, Demyelinating, Type 1d

Search GEO for disease gene expression data for Charcot-Marie-Tooth Disease, Demyelinating, Type 1d.

Pathways for Charcot-Marie-Tooth Disease, Demyelinating, Type 1d

Pathways related to Charcot-Marie-Tooth Disease, Demyelinating, Type 1d according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1 11.34 PMP22 MPZ GJB1
2 10.71 SBF2 PMP22 NEFL NDRG1 MTMR2 MPZ
3 10.7 PRX PMP22 MPZ EGR2

GO Terms for Charcot-Marie-Tooth Disease, Demyelinating, Type 1d

Cellular components related to Charcot-Marie-Tooth Disease, Demyelinating, Type 1d according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 vacuolar membrane GO:0005774 8.92 SBF2 MTMR2

Biological processes related to Charcot-Marie-Tooth Disease, Demyelinating, Type 1d according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 peripheral nervous system myelin maintenance GO:0032287 9.46 PRX NDRG1
2 myelin assembly GO:0032288 9.26 PMP22 MTMR2
3 myelination GO:0042552 9.23 SBF2 PMP22 MTMR2 MPZ EGR2

Molecular functions related to Charcot-Marie-Tooth Disease, Demyelinating, Type 1d according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 aminoacyl-tRNA ligase activity GO:0004812 8.62 YARS1 GARS1

Sources for Charcot-Marie-Tooth Disease, Demyelinating, Type 1d

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 08-Dec-2022)
61 PubChem
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 Tocris
71 UMLS
72 UMLS via Orphanet
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