CMT2B
MCID: CHR646
MIFTS: 42

Charcot-Marie-Tooth Disease, Axonal, Type 2b (CMT2B)

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

Aliases & Classifications for Charcot-Marie-Tooth Disease, Axonal, Type 2b

MalaCards integrated aliases for Charcot-Marie-Tooth Disease, Axonal, Type 2b:

Name: Charcot-Marie-Tooth Disease, Axonal, Type 2b 58 54 30 6 74
Cmt2b 58 12 60 76
Charcot-Marie-Tooth Disease, Type 2b 58 13 41
Charcot-Marie-Tooth Disease Type 2b 12 54 15
Hmsn Iib 58 12 76
Hmsn2b 58 12 76
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2b 12 60
Hereditary Motor and Sensory Neuropathy Iib 58 76
Charcot-Marie-Tooth Neuropathy Type 2b 12 76
Charcot-Marie-Tooth Disease, Autosomal Dominant, Type 2b 58
Hereditary Motor and Sensory Neuropathy Iib; Hmsn Iib 58
Peripheral Sensory Neuropathy, Autosomal Dominant 54
Peripheral Sensory Neuropathy Autosomal Dominant 76
Charcot-Marie-Tooth Disease, Neuronal, Type 2b 54
Charcot-Marie-Tooth Disease Neuronal Type 2b 76
Hereditary Motor and Sensory Nueropathy Iib 12
Hereditary Motor and Sensory Neuropathy 2 B 54
Charcot-Marie-Tooth Disease Axonal Type 2b 76
Charcot-Marie-Tooth Neuropathy, Type 2b 58
Charcot Marie Tooth Disease Type 2b 54
Charcot-Marie-Tooth Disease 2b 76
Cmt 2b 54
Psn 76

Characteristics:

Orphanet epidemiological data:

60
autosomal dominant charcot-marie-tooth disease type 2b
Inheritance: Autosomal dominant; Age of onset: Adolescent,Adult;

OMIM:

58
Inheritance:
autosomal dominant

Miscellaneous:
usually begins in feet and legs (peroneal distribution)
may progress to upper limbs
peak age of onset in second decade
phenotypic overlap with hereditary sensory and autonomic neuropathy type i (hsan1, )


HPO:

33
charcot-marie-tooth disease, axonal, type 2b:
Inheritance autosomal dominant inheritance


Classifications:

Orphanet: 60  
Rare neurological diseases


External Ids:

Disease Ontology 12 DOID:0110159
OMIM 58 600882
ICD10 34 G60.0
ICD10 via Orphanet 35 G60.0
UMLS via Orphanet 75 C1833219
Orphanet 60 ORPHA99936
MedGen 43 C1833219
UMLS 74 C1833219

Summaries for Charcot-Marie-Tooth Disease, Axonal, Type 2b

UniProtKB/Swiss-Prot : 76 Charcot-Marie-Tooth disease 2B: A dominant axonal 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). Neuropathies of the CMT2 group are characterized by signs of axonal degeneration in the absence of obvious myelin alterations, normal or slightly reduced nerve conduction velocities, and progressive distal muscle weakness and atrophy.

MalaCards based summary : Charcot-Marie-Tooth Disease, Axonal, Type 2b, also known as cmt2b, is related to hereditary sensory and autonomic neuropathy type 1 and tooth disease. An important gene associated with Charcot-Marie-Tooth Disease, Axonal, Type 2b is RAB7A (RAB7A, Member RAS Oncogene Family), and among its related pathways/superpathways are Cytoskeletal Signaling and Neural Crest Differentiation. Affiliated tissues include skin, and related phenotypes are pes planus and sensory neuropathy

Disease Ontology : 12 A Charcot-Marie-Tooth disease type 2 that has material basis in heterozygous mutation in the RAB7 gene on chromosome 3q21.

NIH Rare Diseases : 54 Charcot-Marie-Tooth disease type 2B (CMT2B) is an inheritedperipheral neuropathy with onset in the second or third decade of life. Common signs and symptoms include severe loss of sensation in the feet, lower legs, hands, and forearms; reduced tendon reflexes in the ankles; weakness in the lower limbs; and the loss of muscle tissue (muscle atrophy). This type of CMT is also associated with the formation of ulcers in the hands and feet. CMT2B is caused by changes in the RAB7A gene. It is inherited in an autosomal dominant fashion. Treatment is aimed at addressing the symptoms in each patient and often involves a team of specialists.

Description from OMIM: 600882

Related Diseases for Charcot-Marie-Tooth Disease, Axonal, Type 2b

Diseases in the Charcot-Marie-Tooth Disease, Axonal, Type 2e family:

Charcot-Marie-Tooth Disease, Axonal, Type 2a1 Charcot-Marie-Tooth Disease, Axonal, Type 2b
Charcot-Marie-Tooth Disease, Axonal, Type 2d Charcot-Marie-Tooth Disease, Axonal, Type 2b1
Charcot-Marie-Tooth Disease, Axonal, Type 2b2 Charcot-Marie-Tooth Disease, Axonal, Type 2f
Charcot-Marie-Tooth Disease, Axonal, Type 2i Charcot-Marie-Tooth Disease, Axonal, Type 2h
Charcot-Marie-Tooth Disease, Axonal, Type 2j Charcot-Marie-Tooth Disease, Axonal, Type 2k
Charcot-Marie-Tooth Disease, Axonal, Type 2l Charcot-Marie-Tooth Disease, Axonal, Autosomal Dominant, Type 2a2a
Charcot-Marie-Tooth Disease, Axonal, Type 2n Charcot-Marie-Tooth Disease, Axonal, Type 2o
Charcot-Marie-Tooth Disease, Axonal, Type 2p Charcot-Marie-Tooth Disease, Axonal, Type 2q
Charcot-Marie-Tooth Disease, Axonal, Type 2r Charcot-Marie-Tooth Disease, Axonal, Type 2u
Charcot-Marie-Tooth Disease, Axonal, Type 2v Charcot-Marie-Tooth Disease, Axonal, Type 2w
Charcot-Marie-Tooth Disease, Axonal, Type 2x Charcot-Marie-Tooth Disease, Axonal, Type 2z
Charcot-Marie-Tooth Disease, Axonal, Type 2cc Charcot-Marie-Tooth Disease, Axonal, Type 2t
Charcot-Marie-Tooth Disease, Axonal, Autosomal Recessive, Type 2a2b Charcot-Marie-Tooth Disease, Axonal, Type 2dd
Charcot-Marie-Tooth Disease, Axonal, Type 2ee Autosomal Recessive Axonal Charcot-Marie-Tooth Disease Due to Copper Metabolism Defect

Diseases related to Charcot-Marie-Tooth Disease, Axonal, Type 2b via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 56)
# Related Disease Score Top Affiliating Genes
1 hereditary sensory and autonomic neuropathy type 1 30.6 SULT2B1 SPTLC1
2 tooth disease 29.1 EGR2 GJB1 KIF1B MPZ PMP22
3 sensory peripheral neuropathy 29.1 EGR2 GJB1 MPZ PMP22 SPTLC1
4 neuropathy 28.4 DNM2 EGR2 GJB1 MPZ PMP22 SPTLC1
5 charcot-marie-tooth disease 27.8 DNM2 EGR2 GJB1 KIF1B MPZ PMP22
6 warburg micro syndrome 1 10.4
7 warburg micro syndrome 10.4
8 autonomic neuropathy 10.4
9 charcot-marie-tooth disease, axonal, type 2j 10.2 MPZ KIF1B
10 charcot-marie-tooth disease, axonal, type 2i 10.2 MPZ KIF1B
11 neurogenic arthropathy 10.2 SPTLC1 RAB7A
12 tabes dorsalis 10.2 SPTLC1 RAB7A
13 sensory neuropathy type 1 10.1 SPTLC1 GJB1
14 charcot-marie-tooth disease, axonal, type 2l 10.1 MPZ KIF1B
15 charcot-marie-tooth disease, axonal, type 2q 10.1 MPZ EGR2
16 charcot-marie-tooth disease, x-linked recessive, 2 10.1 GJB1 SULT2B1
17 congenital hypomyelination neuropathy 10.1 PMP22 MPZ
18 charcot-marie-tooth hereditary neuropathy 10.1 PMP22 MPZ
19 tertiary neurosyphilis 10.1 SPTLC1 RAB7A
20 lung cancer 10.1
21 vernal conjunctivitis 10.1
22 conjunctivitis 10.1
23 lichen planus 10.1
24 oral lichen planus 10.1
25 foot drop 10.1 PMP22 MPZ
26 hereditary sensory neuropathy 10.1
27 roussy-levy hereditary areflexic dystasia 10.1 PMP22 MPZ
28 charcot-marie-tooth disease, x-linked recessive, 3 10.1 SULT2B1 GJB1
29 brachial plexus neuropathy 10.0 PMP22 KIF1B
30 autoimmune peripheral neuropathy 10.0 MPZ GJB1
31 neuropathy - hereditary 10.0 SPTLC1 PMP22
32 charcot-marie-tooth disease, axonal, type 2f 10.0 GJB1 KIF1B MPZ
33 chronic inflammatory demyelinating polyradiculoneuropathy 10.0 PMP22 MPZ
34 polyradiculoneuropathy 10.0 PMP22 MPZ
35 cauda equina syndrome 10.0 PMP22 EGR2
36 charcot-marie-tooth disease, dominant intermediate a 9.9 DNM2 GJB1
37 peripheral demyelinating neuropathy, central dysmyelination, waardenburg syndrome, and hirschsprung disease 9.9 EGR2 GJB1 MPZ
38 pelizaeus-merzbacher disease 9.9 PMP22 MPZ
39 amyotrophic neuralgia 9.9 GJB1 KIF1B PMP22
40 charcot-marie-tooth disease, demyelinating, type 1f 9.8 GJB1 MPZ PMP22
41 charcot-marie-tooth disease, x-linked dominant, 1 9.8 GJB1 MPZ PMP22
42 hereditary motor and sensory neuropathy, type iic 9.8 GJB1 KIF1B MPZ RAB7A
43 charcot-marie-tooth disease, axonal, type 2k 9.8 DNM2 KIF1B RAB7A
44 neuritis 9.8 MPZ PMP22
45 guillain-barre syndrome 9.7 PMP22 MPZ
46 charcot-marie-tooth disease, axonal, type 2d 9.6 GJB1 KIF1B MPZ PMP22
47 motor peripheral neuropathy 9.6 GJB1 KIF1B MPZ PMP22
48 charcot-marie-tooth disease, demyelinating, type 1c 9.4 EGR2 GJB1 KIF1B MPZ PMP22
49 charcot-marie-tooth disease, demyelinating, type 1a 9.4 EGR2 GJB1 KIF1B MPZ PMP22
50 neuropathy, hereditary, with liability to pressure palsies 9.4 EGR2 GJB1 KIF1B MPZ PMP22

Graphical network of the top 20 diseases related to Charcot-Marie-Tooth Disease, Axonal, Type 2b:



Diseases related to Charcot-Marie-Tooth Disease, Axonal, Type 2b

Symptoms & Phenotypes for Charcot-Marie-Tooth Disease, Axonal, Type 2b

Human phenotypes related to Charcot-Marie-Tooth Disease, Axonal, Type 2b:

33 (show all 18)
# Description HPO Frequency HPO Source Accession
1 pes planus 33 HP:0001763
2 sensory neuropathy 33 HP:0000763
3 pes cavus 33 HP:0001761
4 decreased motor nerve conduction velocity 33 HP:0003431
5 areflexia 33 HP:0001284
6 hyporeflexia 33 HP:0001265
7 foot dorsiflexor weakness 33 HP:0009027
8 hammertoe 33 HP:0001765
9 dystrophic toenail 33 HP:0001810
10 distal muscle weakness 33 HP:0002460
11 steppage gait 33 HP:0003376
12 sensory impairment 33 HP:0003474
13 distal amyotrophy 33 HP:0003693
14 foot osteomyelitis 33 HP:0001886
15 decreased number of peripheral myelinated nerve fibers 33 HP:0003380
16 axonal degeneration/regeneration 33 HP:0003378
17 peripheral axonal atrophy 33 HP:0003384
18 autoamputation of foot 33 HP:0001868

Symptoms via clinical synopsis from OMIM:

58
Skeletal Feet:
pes planus
pes cavus
foot deformities
hammer toes
autoamputation
more
Skin Nails Hair Skin:
ulcers, distal, due to sensory neuropathy
ulcers often lead to infection and amputation

Neurologic Peripheral Nervous System:
areflexia
hyporeflexia
distal limb muscle weakness due to peripheral neuropathy
distal limb muscle atrophy due to peripheral neuropathy
'steppage' gait
more
Skin Nails Hair Nails:
dystrophic toenail changes

Clinical features from OMIM:

600882

MGI Mouse Phenotypes related to Charcot-Marie-Tooth Disease, Axonal, Type 2b:

47
# Description MGI Source Accession Score Top Affiliating Genes
1 homeostasis/metabolism MP:0005376 9.76 DNM2 EGR2 GJB1 KIF1B MPZ PMP22
2 mortality/aging MP:0010768 9.56 DNM2 EGR2 GJB1 KIF1B MPZ PMP22
3 nervous system MP:0003631 9.17 DNM2 EGR2 GJB1 KIF1B MPZ PMP22

Drugs & Therapeutics for Charcot-Marie-Tooth Disease, Axonal, Type 2b

Search Clinical Trials , NIH Clinical Center for Charcot-Marie-Tooth Disease, Axonal, Type 2b

Genetic Tests for Charcot-Marie-Tooth Disease, Axonal, Type 2b

Genetic tests related to Charcot-Marie-Tooth Disease, Axonal, Type 2b:

# Genetic test Affiliating Genes
1 Charcot-Marie-Tooth Disease, Axonal, Type 2b 30 RAB7A

Anatomical Context for Charcot-Marie-Tooth Disease, Axonal, Type 2b

MalaCards organs/tissues related to Charcot-Marie-Tooth Disease, Axonal, Type 2b:

42
Skin

Publications for Charcot-Marie-Tooth Disease, Axonal, Type 2b

Articles related to Charcot-Marie-Tooth Disease, Axonal, Type 2b:

(show all 13)
# Title Authors Year
1
Factors Affecting Phenotype Variability in a Family with CMT2B: Gender and LRSAM1 Genotype. ( 27462242 )
2016
2
Autonomic nervous system involvement in a new CMT2B family. ( 22971099 )
2012
3
CMT2B-associated Rab7 mutants inhibit neurite outgrowth. ( 20464402 )
2010
4
Rab7 and the CMT2B disease. ( 19754445 )
2009
5
Membrane recruitment of the cargo-selective retromer subcomplex is catalysed by the small GTPase Rab7 and inhibited by the Rab-GAP TBC1D5. ( 19531583 )
2009
6
Charcot-Marie-Tooth disease due to a de novo mutation of the RAB7 gene. ( 17060578 )
2006
7
A novel RAB7 mutation associated with ulcero-mutilating neuropathy. ( 15455439 )
2004
8
Mutations in the small GTP-ase late endosomal protein RAB7 cause Charcot-Marie-Tooth type 2B neuropathy. ( 12545426 )
2003
9
A family with autosomal dominant mutilating neuropathy not linked to either Charcot-Marie-Tooth disease type 2B (CMT2B) or hereditary sensory neuropathy type I (HSN I) loci. ( 11801401 )
2002
10
Ulcero-mutilating neuropathy in an Austrian kinship without linkage to hereditary motor and sensory neuropathy IIB and hereditary sensory neuropathy I loci. ( 10636124 )
2000
11
Phenotype-genotype correlations in a CMT2B family with refined 3q13-q22 locus. ( 11094113 )
2000
12
Mutilating neuropathic ulcerations in a chromosome 3q13-q22 linked Charcot-Marie-Tooth disease type 2B family. ( 9219740 )
1997
13
Misclassification and linkage of hereditary sensory and autonomic neuropathy type 1 as Charcot-Marie-Tooth disease, type 2B. ( 8659534 )
1996

Variations for Charcot-Marie-Tooth Disease, Axonal, Type 2b

UniProtKB/Swiss-Prot genetic disease variations for Charcot-Marie-Tooth Disease, Axonal, Type 2b:

76
# Symbol AA change Variation ID SNP ID
1 RAB7A p.Leu129Phe VAR_018722 rs121909078
2 RAB7A p.Val162Met VAR_018723 rs121909079
3 RAB7A p.Lys157Asn VAR_037887 rs121909081
4 RAB7A p.Asn161Thr VAR_037888 rs121909080

ClinVar genetic disease variations for Charcot-Marie-Tooth Disease, Axonal, Type 2b:

6 (show all 32)
# Gene Variation Type Significance SNP ID Assembly Location
1 RAB7A NM_004637.5(RAB7A): c.385C> T (p.Leu129Phe) single nucleotide variant Pathogenic rs121909078 GRCh37 Chromosome 3, 128525419: 128525419
2 RAB7A NM_004637.5(RAB7A): c.385C> T (p.Leu129Phe) single nucleotide variant Pathogenic rs121909078 GRCh38 Chromosome 3, 128806576: 128806576
3 RAB7A NM_004637.5(RAB7A): c.484G> A (p.Val162Met) single nucleotide variant Pathogenic rs121909079 GRCh37 Chromosome 3, 128526470: 128526470
4 RAB7A NM_004637.5(RAB7A): c.484G> A (p.Val162Met) single nucleotide variant Pathogenic rs121909079 GRCh38 Chromosome 3, 128807627: 128807627
5 RAB7A NM_004637.5(RAB7A): c.482A> C (p.Asn161Thr) single nucleotide variant Pathogenic rs121909080 GRCh37 Chromosome 3, 128526468: 128526468
6 RAB7A NM_004637.5(RAB7A): c.482A> C (p.Asn161Thr) single nucleotide variant Pathogenic rs121909080 GRCh38 Chromosome 3, 128807625: 128807625
7 RAB7A NM_004637.5(RAB7A): c.471G> C (p.Lys157Asn) single nucleotide variant Pathogenic rs121909081 GRCh37 Chromosome 3, 128526457: 128526457
8 RAB7A NM_004637.5(RAB7A): c.471G> C (p.Lys157Asn) single nucleotide variant Pathogenic rs121909081 GRCh38 Chromosome 3, 128807614: 128807614
9 RAB7A NM_004637.5(RAB7A): c.219C> T (p.Leu73=) single nucleotide variant Benign/Likely benign rs4548 GRCh37 Chromosome 3, 128525253: 128525253
10 RAB7A NM_004637.5(RAB7A): c.219C> T (p.Leu73=) single nucleotide variant Benign/Likely benign rs4548 GRCh38 Chromosome 3, 128806410: 128806410
11 RAB7A NM_004637.5(RAB7A): c.167T> C (p.Leu56Pro) single nucleotide variant Uncertain significance rs775104487 GRCh37 Chromosome 3, 128516899: 128516899
12 RAB7A NM_004637.5(RAB7A): c.167T> C (p.Leu56Pro) single nucleotide variant Uncertain significance rs775104487 GRCh38 Chromosome 3, 128798056: 128798056
13 RAB7A NM_004637.5(RAB7A): c.423C> G (p.Ala141=) single nucleotide variant Benign/Likely benign rs61758751 GRCh37 Chromosome 3, 128526409: 128526409
14 RAB7A NM_004637.5(RAB7A): c.423C> G (p.Ala141=) single nucleotide variant Benign/Likely benign rs61758751 GRCh38 Chromosome 3, 128807566: 128807566
15 RAB7A NM_004637.5(RAB7A): c.87G> A (p.Val29=) single nucleotide variant Benign/Likely benign rs145441548 GRCh38 Chromosome 3, 128797976: 128797976
16 RAB7A NM_004637.5(RAB7A): c.87G> A (p.Val29=) single nucleotide variant Benign/Likely benign rs145441548 GRCh37 Chromosome 3, 128516819: 128516819
17 RAB7A NM_004637.5(RAB7A): c.213G> A (p.Gln71=) single nucleotide variant Likely benign rs140299645 GRCh37 Chromosome 3, 128525247: 128525247
18 RAB7A NM_004637.5(RAB7A): c.213G> A (p.Gln71=) single nucleotide variant Likely benign rs140299645 GRCh38 Chromosome 3, 128806404: 128806404
19 RAB7A NM_004637.5(RAB7A): c.21G> A (p.Val7=) single nucleotide variant Likely benign rs140857794 GRCh37 Chromosome 3, 128514231: 128514231
20 RAB7A NM_004637.5(RAB7A): c.21G> A (p.Val7=) single nucleotide variant Likely benign rs140857794 GRCh38 Chromosome 3, 128795388: 128795388
21 RAB7A NM_004637.5(RAB7A): c.180+9A> G single nucleotide variant Likely benign rs762831187 GRCh37 Chromosome 3, 128516921: 128516921
22 RAB7A NM_004637.5(RAB7A): c.180+9A> G single nucleotide variant Likely benign rs762831187 GRCh38 Chromosome 3, 128798078: 128798078
23 RAB7A NM_004637.5(RAB7A): c.577G> A (p.Asp193Asn) single nucleotide variant Uncertain significance rs756968558 GRCh37 Chromosome 3, 128532218: 128532218
24 RAB7A NM_004637.5(RAB7A): c.577G> A (p.Asp193Asn) single nucleotide variant Uncertain significance rs756968558 GRCh38 Chromosome 3, 128813375: 128813375
25 RAB7A NM_004637.5(RAB7A): c.414G> T (p.Arg138=) single nucleotide variant Likely benign rs754928233 GRCh37 Chromosome 3, 128526400: 128526400
26 RAB7A NM_004637.5(RAB7A): c.414G> T (p.Arg138=) single nucleotide variant Likely benign rs754928233 GRCh38 Chromosome 3, 128807557: 128807557
27 RAB7A NM_004637.5(RAB7A): c.321C> T (p.Leu107=) single nucleotide variant Likely benign rs749227632 GRCh38 Chromosome 3, 128806512: 128806512
28 RAB7A NM_004637.5(RAB7A): c.321C> T (p.Leu107=) single nucleotide variant Likely benign rs749227632 GRCh37 Chromosome 3, 128525355: 128525355
29 RAB7A NM_004637.5(RAB7A): c.551A> G (p.Asn184Ser) single nucleotide variant Uncertain significance rs752824265 GRCh38 Chromosome 3, 128813349: 128813349
30 RAB7A NM_004637.5(RAB7A): c.551A> G (p.Asn184Ser) single nucleotide variant Uncertain significance rs752824265 GRCh37 Chromosome 3, 128532192: 128532192
31 RAB7A NM_004637.5(RAB7A): c.568A> G (p.Ile190Val) single nucleotide variant Uncertain significance GRCh38 Chromosome 3, 128813366: 128813366
32 RAB7A NM_004637.5(RAB7A): c.568A> G (p.Ile190Val) single nucleotide variant Uncertain significance GRCh37 Chromosome 3, 128532209: 128532209

Expression for Charcot-Marie-Tooth Disease, Axonal, Type 2b

Search GEO for disease gene expression data for Charcot-Marie-Tooth Disease, Axonal, Type 2b.

Pathways for Charcot-Marie-Tooth Disease, Axonal, Type 2b

Pathways related to Charcot-Marie-Tooth Disease, Axonal, Type 2b according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1 11.62 DNM2 KIF1B RAB7A
2 10.81 GJB1 MPZ PMP22

GO Terms for Charcot-Marie-Tooth Disease, Axonal, Type 2b

Cellular components related to Charcot-Marie-Tooth Disease, Axonal, Type 2b according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 phagocytic vesicle membrane GO:0030670 8.62 DNM2 RAB7A

Biological processes related to Charcot-Marie-Tooth Disease, Axonal, Type 2b according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 peripheral nervous system development GO:0007422 8.96 EGR2 PMP22
2 myelination GO:0042552 8.8 EGR2 MPZ PMP22

Sources for Charcot-Marie-Tooth Disease, Axonal, Type 2b

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
Content
Loading form....