CMT2F
MCID: CHR352
MIFTS: 35

Charcot-Marie-Tooth Disease, Axonal, Type 2f (CMT2F)

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

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

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

Name: Charcot-Marie-Tooth Disease, Axonal, Type 2f 57 13 73
Cmt2f 57 12 59 75
Charcot-Marie-Tooth Disease Axonal Type 2f 12 75 15
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2f 12 59
Charcot-Marie-Tooth Neuropathy Type 2f 12 75
Charcot-Marie-Tooth Disease, Neuronal, Type 2f 57
Charcot-Marie-Tooth Disease Neuronal Type 2f 75
Charcot-Marie-Tooth Neuropathy, Type 2f 57
Charcot-Marie-Tooth Neuronal Type 2f 12
Charcot-Marie-Tooth Disease, Type 2f 40
Charcot-Marie-Tooth Disease 2f 75

Characteristics:

Orphanet epidemiological data:

59
autosomal dominant charcot-marie-tooth disease type 2f
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Adolescent,Adult,Elderly;

OMIM:

57
Inheritance:
autosomal dominant

Miscellaneous:
usually begins in feet and legs (peroneal distribution)
variable age at onset (range 15 to 60 years)
genetic heterogeneity (see cmt2a, )


HPO:

32
charcot-marie-tooth disease, axonal, type 2f:
Inheritance heterogeneous autosomal dominant inheritance


Classifications:

Orphanet: 59  
Rare neurological diseases


External Ids:

OMIM 57 606595
Disease Ontology 12 DOID:0110163
ICD10 33 G60.0
Orphanet 59 ORPHA99940
UMLS via Orphanet 74 C1847823
ICD10 via Orphanet 34 G60.0
MedGen 42 C1847823
MeSH 44 D002607
UMLS 73 C1847823

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

UniProtKB/Swiss-Prot : 75 Charcot-Marie-Tooth disease 2F: 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. Onset of Charcot-Marie-Tooth disease type 2F is between 15 and 25 years with muscle weakness and atrophy usually beginning in feet and legs (peroneal distribution). Upper limb involvement occurs later.

MalaCards based summary : Charcot-Marie-Tooth Disease, Axonal, Type 2f, also known as cmt2f, is related to charcot-marie-tooth disease and tooth disease, and has symptoms including muscular fasciculation and muscle cramp. An important gene associated with Charcot-Marie-Tooth Disease, Axonal, Type 2f is HSPB1 (Heat Shock Protein Family B (Small) Member 1), and among its related pathways/superpathways is Neural Crest Differentiation. Affiliated tissues include skin, and related phenotypes are reduced tendon reflexes and talipes equinovarus

Disease Ontology : 12 A Charcot-Marie-Tooth disease type 2 that has material basis in mutation in the gene encoding heat-shock 27-kD protein-1 (HSPB1).

Description from OMIM: 606595

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

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
Autosomal Recessive Axonal Charcot-Marie-Tooth Disease Due to Copper Metabolism Deffect

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

(show all 29)
# Related Disease Score Top Affiliating Genes
1 charcot-marie-tooth disease 29.6 GJB1 HSPB1 KIF1B MPZ
2 tooth disease 29.6 GJB1 HSPB1 KIF1B MPZ
3 charcot-marie-tooth disease type 2f 11.8
4 neuropathy 10.5
5 charcot-marie-tooth disease, axonal, type 2i 10.0 KIF1B MPZ
6 charcot-marie-tooth disease, axonal, type 2j 10.0 KIF1B MPZ
7 distal hereditary motor neuropathy, type ii 10.0 HSPB1 HSPB3
8 charcot-marie-tooth disease, axonal, type 2k 9.9 HSPB3 KIF1B
9 amyotrophic neuralgia 9.9 GJB1 KIF1B
10 charcot-marie-tooth disease, demyelinating, type 1f 9.9 GJB1 MPZ
11 charcot-marie-tooth disease, x-linked dominant, 1 9.8 GJB1 MPZ
12 peripheral demyelinating neuropathy, central dysmyelination, waardenburg syndrome, and hirschsprung disease 9.8 GJB1 MPZ
13 autoimmune peripheral neuropathy 9.8 GJB1 MPZ
14 charcot-marie-tooth disease, axonal, type 2d 9.8 GJB1 KIF1B MPZ
15 charcot-marie-tooth disease, demyelinating, type 1c 9.8 GJB1 KIF1B MPZ
16 charcot-marie-tooth disease, demyelinating, type 1b 9.7 GJB1 KIF1B MPZ
17 charcot-marie-tooth disease, axonal, type 2b 9.7 GJB1 KIF1B MPZ
18 motor peripheral neuropathy 9.7 GJB1 KIF1B MPZ
19 charcot-marie-tooth disease, demyelinating, type 1a 9.7 GJB1 KIF1B MPZ
20 neuropathy, hereditary, with liability to pressure palsies 9.7 GJB1 KIF1B MPZ
21 hereditary motor and sensory neuropathy, type iic 9.7 GJB1 KIF1B MPZ
22 charcot-marie-tooth disease and deafness 9.7 GJB1 KIF1B MPZ
23 hypertrophic neuropathy of dejerine-sottas 9.7 GJB1 KIF1B MPZ
24 neuropathy, congenital hypomyelinating or amyelinating, autosomal recessive 9.7 GJB1 KIF1B MPZ
25 charcot-marie-tooth disease, axonal, type 2l 9.7 HSPB1 HSPB3 KIF1B MPZ
26 peripheral nervous system disease 9.7 GJB1 KIF1B MPZ
27 sensory peripheral neuropathy 9.7 GJB1 MPZ
28 charcot-marie-tooth disease, demyelinating, type 1d 9.5 GJB1 KCNH6 KIF1B MPZ
29 charcot-marie-tooth disease, axonal, type 2e 9.5 GJB1 KCNH6 KIF1B MPZ

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



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

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

Symptoms via clinical synopsis from OMIM:

57
Skeletal Feet:
pes cavus

Skeletal Hands:
claw hand deformities (in severe cases)

Neurologic Peripheral Nervous System:
muscle cramps
areflexia
fasciculations
hyporeflexia
distal sensory impairment
more

Clinical features from OMIM:

606595

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

59 32 (show all 26)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 reduced tendon reflexes 59 32 hallmark (90%) Very frequent (99-80%) HP:0001315
2 talipes equinovarus 59 32 hallmark (90%) Very frequent (99-80%) HP:0001762
3 impaired pain sensation 59 32 hallmark (90%) Very frequent (99-80%) HP:0007328
4 lower limb muscle weakness 59 32 hallmark (90%) Very frequent (99-80%) HP:0007340
5 peripheral axonal neuropathy 59 32 hallmark (90%) Very frequent (99-80%) HP:0003477
6 steppage gait 59 32 hallmark (90%) Very frequent (99-80%) HP:0003376
7 distal lower limb amyotrophy 59 32 hallmark (90%) Very frequent (99-80%) HP:0008944
8 limb fasciculations 59 32 hallmark (90%) Very frequent (99-80%) HP:0007289
9 upper limb amyotrophy 59 32 hallmark (90%) Very frequent (99-80%) HP:0009129
10 impaired temperature sensation 59 32 hallmark (90%) Very frequent (99-80%) HP:0010829
11 pes cavus 32 HP:0001761
12 decreased motor nerve conduction velocity 32 HP:0003431
13 muscle cramps 32 HP:0003394
14 areflexia 32 HP:0001284
15 fasciculations 32 HP:0002380
16 split hand 32 HP:0001171
17 hyporeflexia 32 HP:0001265
18 foot dorsiflexor weakness 32 HP:0009027
19 distal muscle weakness 32 HP:0002460
20 distal amyotrophy 32 HP:0003693
21 distal sensory impairment 32 HP:0002936
22 emg: neuropathic changes 59 Very frequent (99-80%)
23 chronic axonal neuropathy 32 HP:0007267
24 emg: chronic denervation signs 59 Very frequent (99-80%)
25 ulnar claw 32 HP:0001178
26 emg 32 hallmark (90%) HP:0003444

UMLS symptoms related to Charcot-Marie-Tooth Disease, Axonal, Type 2f:


muscular fasciculation, muscle cramp

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

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

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

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

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

41
Skin

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

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

# Title Authors Year
1
Clinical and genetic features of Charcot-Marie-Tooth disease 2F and hereditary motor neuropathy 2B in Japan. ( 29381233 )
2018
2
Charcot Marie Tooth disease 2F and a novel mutation from India. ( 29547183 )
2018

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

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

75
# Symbol AA change Variation ID SNP ID
1 HSPB1 p.Ser135Phe VAR_018507 rs28939680
2 HSPB1 p.Arg136Trp VAR_018508 rs28939681
3 HSPB1 p.Thr164Ala VAR_067085
4 HSPB1 p.Pro39Leu VAR_077484 rs557327165
5 HSPB1 p.Arg136Leu VAR_077488 rs863225022

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

6 (show top 50) (show all 102)
# Gene Variation Type Significance SNP ID Assembly Location
1 HSPB1 NM_001540.4(HSPB1): c.404C> T (p.Ser135Phe) single nucleotide variant Pathogenic rs28939680 GRCh37 Chromosome 7, 75933158: 75933158
2 HSPB1 NM_001540.4(HSPB1): c.404C> T (p.Ser135Phe) single nucleotide variant Pathogenic rs28939680 GRCh38 Chromosome 7, 76303841: 76303841
3 HSPB1 NM_001540.4(HSPB1): c.379C> T (p.Arg127Trp) single nucleotide variant Pathogenic rs29001571 GRCh37 Chromosome 7, 75933133: 75933133
4 HSPB1 NM_001540.4(HSPB1): c.379C> T (p.Arg127Trp) single nucleotide variant Pathogenic rs29001571 GRCh38 Chromosome 7, 76303816: 76303816
5 HSPB1 NM_001540.4(HSPB1): c.406C> T (p.Arg136Trp) single nucleotide variant Pathogenic rs28939681 GRCh37 Chromosome 7, 75933160: 75933160
6 HSPB1 NM_001540.4(HSPB1): c.406C> T (p.Arg136Trp) single nucleotide variant Pathogenic rs28939681 GRCh38 Chromosome 7, 76303843: 76303843
7 HSPB1 NM_001540.4(HSPB1): c.418C> G (p.Arg140Gly) single nucleotide variant Pathogenic rs121909112 GRCh37 Chromosome 7, 75933172: 75933172
8 HSPB1 NM_001540.4(HSPB1): c.418C> G (p.Arg140Gly) single nucleotide variant Pathogenic rs121909112 GRCh38 Chromosome 7, 76303855: 76303855
9 HSPB1 NM_001540.4(HSPB1): c.9G> A (p.Glu3=) single nucleotide variant Benign/Likely benign rs77586767 GRCh37 Chromosome 7, 75932038: 75932038
10 HSPB1 NM_001540.4(HSPB1): c.9G> A (p.Glu3=) single nucleotide variant Benign/Likely benign rs77586767 GRCh38 Chromosome 7, 76302721: 76302721
11 HSPB1 NM_001540.4(HSPB1): c.610G> A (p.Ala204Thr) single nucleotide variant Uncertain significance rs367857772 GRCh37 Chromosome 7, 75933482: 75933482
12 HSPB1 NM_001540.4(HSPB1): c.610G> A (p.Ala204Thr) single nucleotide variant Uncertain significance rs367857772 GRCh38 Chromosome 7, 76304165: 76304165
13 HSPB1 NM_001540.4(HSPB1): c.407G> T (p.Arg136Leu) single nucleotide variant Pathogenic/Likely pathogenic rs863225022 GRCh38 Chromosome 7, 76303844: 76303844
14 HSPB1 NM_001540.4(HSPB1): c.407G> T (p.Arg136Leu) single nucleotide variant Pathogenic/Likely pathogenic rs863225022 GRCh37 Chromosome 7, 75933161: 75933161
15 HSPB1 NM_001540.4(HSPB1): c.523C> T (p.Gln175Ter) single nucleotide variant Pathogenic/Likely pathogenic rs863225023 GRCh37 Chromosome 7, 75933395: 75933395
16 HSPB1 NM_001540.4(HSPB1): c.523C> T (p.Gln175Ter) single nucleotide variant Pathogenic/Likely pathogenic rs863225023 GRCh38 Chromosome 7, 76304078: 76304078
17 HSPB1 NM_001540.4(HSPB1): c.99C> T (p.Phe33=) single nucleotide variant Likely benign rs762032846 GRCh38 Chromosome 7, 76302811: 76302811
18 HSPB1 NM_001540.4(HSPB1): c.99C> T (p.Phe33=) single nucleotide variant Likely benign rs762032846 GRCh37 Chromosome 7, 75932128: 75932128
19 HSPB1 NM_001540.4(HSPB1): c.250G> C (p.Gly84Arg) single nucleotide variant Pathogenic rs770272088 GRCh37 Chromosome 7, 75932279: 75932279
20 HSPB1 NM_001540.4(HSPB1): c.250G> C (p.Gly84Arg) single nucleotide variant Pathogenic rs770272088 GRCh38 Chromosome 7, 76302962: 76302962
21 HSPB1 NM_001540.4(HSPB1): c.178C> T (p.Pro60Ser) single nucleotide variant Benign/Likely benign rs61751217 GRCh37 Chromosome 7, 75932207: 75932207
22 HSPB1 NM_001540.4(HSPB1): c.178C> T (p.Pro60Ser) single nucleotide variant Benign/Likely benign rs61751217 GRCh38 Chromosome 7, 76302890: 76302890
23 HSPB1 NM_001540.4(HSPB1): c.567C> T (p.Ala189=) single nucleotide variant Benign rs528301561 GRCh38 Chromosome 7, 76304122: 76304122
24 HSPB1 NM_001540.4(HSPB1): c.567C> T (p.Ala189=) single nucleotide variant Benign rs528301561 GRCh37 Chromosome 7, 75933439: 75933439
25 HSPB1 NM_001540.4(HSPB1): c.80G> C (p.Arg27Pro) single nucleotide variant Conflicting interpretations of pathogenicity rs367662394 GRCh38 Chromosome 7, 76302792: 76302792
26 HSPB1 NM_001540.4(HSPB1): c.80G> C (p.Arg27Pro) single nucleotide variant Conflicting interpretations of pathogenicity rs367662394 GRCh37 Chromosome 7, 75932109: 75932109
27 HSPB1 NM_001540.4(HSPB1): c.24C> T (p.Phe8=) single nucleotide variant Conflicting interpretations of pathogenicity rs201769668 GRCh37 Chromosome 7, 75932053: 75932053
28 HSPB1 NM_001540.4(HSPB1): c.24C> T (p.Phe8=) single nucleotide variant Conflicting interpretations of pathogenicity rs201769668 GRCh38 Chromosome 7, 76302736: 76302736
29 HSPB1 NM_001540.4(HSPB1): c.383A> G (p.Gln128Arg) single nucleotide variant Conflicting interpretations of pathogenicity rs558882005 GRCh37 Chromosome 7, 75933137: 75933137
30 HSPB1 NM_001540.4(HSPB1): c.383A> G (p.Gln128Arg) single nucleotide variant Conflicting interpretations of pathogenicity rs558882005 GRCh38 Chromosome 7, 76303820: 76303820
31 HSPB1 NM_001540.4(HSPB1): c.36G> T (p.Arg12=) single nucleotide variant Benign/Likely benign rs145369859 GRCh37 Chromosome 7, 75932065: 75932065
32 HSPB1 NM_001540.4(HSPB1): c.36G> T (p.Arg12=) single nucleotide variant Benign/Likely benign rs145369859 GRCh38 Chromosome 7, 76302748: 76302748
33 HSPB1 NM_001540.4(HSPB1): c.573T> C (p.Leu191=) single nucleotide variant Benign/Likely benign rs34771861 GRCh37 Chromosome 7, 75933445: 75933445
34 HSPB1 NM_001540.4(HSPB1): c.573T> C (p.Leu191=) single nucleotide variant Benign/Likely benign rs34771861 GRCh38 Chromosome 7, 76304128: 76304128
35 HSPB1 NM_001540.4(HSPB1): c.318G> C (p.Pro106=) single nucleotide variant Likely benign rs750349055 GRCh38 Chromosome 7, 76303030: 76303030
36 HSPB1 NM_001540.4(HSPB1): c.318G> C (p.Pro106=) single nucleotide variant Likely benign rs750349055 GRCh37 Chromosome 7, 75932347: 75932347
37 HSPB1 NM_001540.4(HSPB1): c.16G> A (p.Val6Ile) single nucleotide variant Uncertain significance rs1049324 GRCh37 Chromosome 7, 75932045: 75932045
38 HSPB1 NM_001540.4(HSPB1): c.16G> A (p.Val6Ile) single nucleotide variant Uncertain significance rs1049324 GRCh38 Chromosome 7, 76302728: 76302728
39 HSPB1 NM_001540.4(HSPB1): c.266G> A (p.Arg89Gln) single nucleotide variant Uncertain significance rs1060503022 GRCh37 Chromosome 7, 75932295: 75932295
40 HSPB1 NM_001540.4(HSPB1): c.266G> A (p.Arg89Gln) single nucleotide variant Uncertain significance rs1060503022 GRCh38 Chromosome 7, 76302978: 76302978
41 HSPB1 NM_001540.4(HSPB1): c.202G> C (p.Val68Leu) single nucleotide variant Uncertain significance rs757158514 GRCh38 Chromosome 7, 76302914: 76302914
42 HSPB1 NM_001540.4(HSPB1): c.202G> C (p.Val68Leu) single nucleotide variant Uncertain significance rs757158514 GRCh37 Chromosome 7, 75932231: 75932231
43 HSPB1 NM_001540.4(HSPB1): c.522_523delGCinsCT (p.Gln175Ter) indel Likely pathogenic rs1060503021 GRCh38 Chromosome 7, 76304077: 76304078
44 HSPB1 NM_001540.4(HSPB1): c.522_523delGCinsCT (p.Gln175Ter) indel Likely pathogenic rs1060503021 GRCh37 Chromosome 7, 75933394: 75933395
45 HSPB1 NM_001540.4(HSPB1): c.277G> A (p.Asp93Asn) single nucleotide variant Uncertain significance rs777201941 GRCh37 Chromosome 7, 75932306: 75932306
46 HSPB1 NM_001540.4(HSPB1): c.277G> A (p.Asp93Asn) single nucleotide variant Uncertain significance rs777201941 GRCh38 Chromosome 7, 76302989: 76302989
47 HSPB1 NM_001540.4(HSPB1): c.305A> T (p.Asn102Ile) single nucleotide variant Uncertain significance rs765142574 GRCh38 Chromosome 7, 76303017: 76303017
48 HSPB1 NM_001540.4(HSPB1): c.305A> T (p.Asn102Ile) single nucleotide variant Uncertain significance rs765142574 GRCh37 Chromosome 7, 75932334: 75932334
49 HSPB1 NM_001540.4(HSPB1): c.29T> A (p.Leu10His) single nucleotide variant Uncertain significance rs772216758 GRCh37 Chromosome 7, 75932058: 75932058
50 HSPB1 NM_001540.4(HSPB1): c.29T> A (p.Leu10His) single nucleotide variant Uncertain significance rs772216758 GRCh38 Chromosome 7, 76302741: 76302741

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

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

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

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

# Super pathways Score Top Affiliating Genes
1 10.63 GJB1 MPZ

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

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

# Name GO ID Score Top Affiliating Genes
1 axon cytoplasm GO:1904115 8.62 HSPB1 KIF1B

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

# Name GO ID Score Top Affiliating Genes
1 response to unfolded protein GO:0006986 8.62 HSPB1 HSPB3

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

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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