HSN2C
MCID: NRP029
MIFTS: 39

Neuropathy, Hereditary Sensory, Type Iic (HSN2C)

Categories: Bone diseases, Ear diseases, Fetal diseases, Genetic diseases, Mental diseases, Muscle diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Neuropathy, Hereditary Sensory, Type Iic

MalaCards integrated aliases for Neuropathy, Hereditary Sensory, Type Iic:

Name: Neuropathy, Hereditary Sensory, Type Iic 57 13 70
Hsn2c 57 12 72
Hereditary Sensory Neuropathy Type Iic 12 72
Hereditary Sensory Neuropathy Type 2c 12 15
Neuropathy, Sensory, Hereditary, Type Iic 39
Neuropathy, Hereditary Sensory, 2c 72
Hsn Iice 72

Characteristics:

OMIM®:

57 (Updated 20-May-2021)
Inheritance:
autosomal recessive

Miscellaneous:
progressive disorder
onset in childhood


HPO:

31
neuropathy, hereditary sensory, type iic:
Inheritance autosomal recessive inheritance
Onset and clinical course progressive


Classifications:



External Ids:

Disease Ontology 12 DOID:0070147
OMIM® 57 614213
OMIM Phenotypic Series 57 PS162400
MeSH 44 D009477
MedGen 41 C3280168
UMLS 70 C3280168

Summaries for Neuropathy, Hereditary Sensory, Type Iic

OMIM® : 57 HSN2C is an autosomal recessive disorder characterized by onset in the first decade of progressive distal sensory loss leading to ulceration and amputation of the fingers and toes. Affected individuals also develop distal muscle weakness, primarily affecting the lower limbs (summary by Riviere et al., 2011). For a discussion of genetic heterogeneity of HSN, see HSAN1 (162400). (614213) (Updated 20-May-2021)

MalaCards based summary : Neuropathy, Hereditary Sensory, Type Iic, also known as hsn2c, is related to complex hereditary spastic paraplegia and spastic ataxia 2. An important gene associated with Neuropathy, Hereditary Sensory, Type Iic is KIF1A (Kinesin Family Member 1A). Affiliated tissues include brain, and related phenotypes are global developmental delay and short stature

Disease Ontology : 12 A hereditary sensory and autonomic neuropathy type 2 characterized by peripheral nerve degeneration and progressive distal sensory loss that has material basis in homozygous or compound heterozygous mutation in the KIF1A gene on chromosome 2q37.

UniProtKB/Swiss-Prot : 72 Neuropathy, hereditary sensory, 2C: A neurodegenerative disorder characterized by onset in the first decade of progressive distal sensory loss leading to ulceration and amputation of the fingers and toes. Affected individuals also develop distal muscle weakness, primarily affecting the lower limbs.

Related Diseases for Neuropathy, Hereditary Sensory, Type Iic

Diseases in the Hereditary Sensory Neuropathy family:

Neuropathy, Hereditary Sensory, Type Id Neuropathy, Hereditary Sensory, Type Ie
Neuropathy, Hereditary Sensory, Type Iic Neuropathy, Hereditary Sensory, Type if
Sptlc1-Related Hereditary Sensory Neuropathy

Diseases related to Neuropathy, Hereditary Sensory, Type Iic via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 72)
# Related Disease Score Top Affiliating Genes
1 complex hereditary spastic paraplegia 10.2 SPG11 FA2H
2 spastic ataxia 2 10.2 REEP1 KIF1A
3 spastic paraplegia 16, x-linked 10.1 SPG21 SPG11
4 hereditary spastic paraplegia 23 10.1 SPG21 SPG11
5 parkinson disease 15, autosomal recessive early-onset 10.1 SPG11 FA2H
6 spastic paraplegia 14, autosomal recessive 10.1 SPG21 SPG11
7 spastic paraplegia 64, autosomal recessive 10.1 SPG21 SPG11
8 spastic paraplegia 25, autosomal recessive 10.1 SPG21 REEP1
9 spastic paraplegia 49, autosomal recessive 10.1 SPG21 SPG11
10 spastic paraparesis 10.0 SPG11 KIF1A FA2H
11 spastic paraplegia 34, x-linked 10.0 SPG21 REEP1
12 spastic paraplegia 11, autosomal recessive 10.0 SPG21 SPG11
13 pure hereditary spastic paraplegia 10.0 RTN2 ERLIN2
14 motor peripheral neuropathy 10.0 SPG11 REEP1 KIF1A
15 spastic paraplegia 28, autosomal recessive 10.0 SPG11 REEP1 FA2H
16 mast syndrome 10.0 SPG21 SPG11
17 spastic cerebral palsy 10.0 FA2H AP4B1
18 nescav syndrome 10.0 RTN2 REEP1 KIF1A
19 spastic paraplegia 3, autosomal dominant 10.0 SPG11 RTN2 REEP1
20 spastic paraplegia 43, autosomal recessive 9.9 SPG11 FA2H ERLIN2
21 spastic paraplegia 46, autosomal recessive 9.9 SPG21 SPG11 FA2H
22 spastic paraplegia 39, autosomal recessive 9.9 SPG21 SPG11 FA2H
23 spastic paraplegia 73, autosomal dominant 9.9 SPG21 REEP1 FA2H
24 spastic paraplegia 6, autosomal dominant 9.9 SPG21 SPG11 REEP1
25 spastic paraplegia 8, autosomal dominant 9.9 SPG21 SPG11 REEP1
26 ap-4-associated hereditary spastic paraplegia 9.9 AP4E1 AP4B1
27 spastic paraplegia 44, autosomal recessive 9.9 SPG21 SPG11 ERLIN2
28 spastic paraplegia 37, autosomal dominant 9.8 SPG21 REEP1 ERLIN2
29 charcot-marie-tooth disease, axonal, type 2h 9.8 SPG21 MTRFR
30 charcot-marie-tooth disease, recessive intermediate d 9.8 SPG21 MTRFR
31 charcot-marie-tooth disease type 2a2a 9.8 SPG21 MTRFR
32 spastic diplegia 9.8 AP4E1 AP4B1
33 spastic paraplegia 57, autosomal recessive 9.8 SPG11 REEP1 KIF1A ERLIN2
34 spastic paraplegia 53, autosomal recessive 9.8 RTN2 AP4E1 AP4B1
35 spastic paraplegia 45, autosomal recessive 9.8 SPG21 SPG11 AP4E1
36 charcot-marie-tooth disease, axonal, type 2r 9.8 SPG21 MTRFR
37 axonal neuropathy 9.8 SPG11 MTRFR KIF1A
38 spastic paraplegia 54, autosomal recessive 9.8 SPG21 SPG11 REEP1 FA2H
39 charcot-marie-tooth disease, axonal, type 2t 9.8 SPG21 MTRFR
40 spastic paraplegia 26, autosomal recessive 9.8 SPG21 SPG11 REEP1 FA2H
41 spastic paraplegia 15, autosomal recessive 9.8 SPG21 SPG11 REEP1 FA2H
42 spastic paraplegia 35, autosomal recessive 9.8 SPG21 SPG11 REEP1 FA2H
43 neuronopathy, distal hereditary motor, type va 9.8 RTN2 REEP1
44 quadriplegia 9.7 AP4E1 AP4B1
45 charcot-marie-tooth disease, axonal, type 2p 9.7 SPG21 MTRFR
46 hereditary spastic paraplegia 72 9.7 SPG11 RTN2 REEP1 ERLIN2
47 spastic paraplegia 61, autosomal recessive 9.7 SPG21 SPG11 RTN2 REEP1
48 spastic paraplegia 33, autosomal dominant 9.7 SPG21 SPG11 RTN2 REEP1
49 spastic paraplegia 12, autosomal dominant 9.7 SPG21 SPG11 RTN2 REEP1
50 spastic paraplegia 31, autosomal dominant 9.7 SPG21 SPG11 RTN2 REEP1

Graphical network of the top 20 diseases related to Neuropathy, Hereditary Sensory, Type Iic:



Diseases related to Neuropathy, Hereditary Sensory, Type Iic

Symptoms & Phenotypes for Neuropathy, Hereditary Sensory, Type Iic

Human phenotypes related to Neuropathy, Hereditary Sensory, Type Iic:

31
# Description HPO Frequency HPO Source Accession
1 global developmental delay 31 occasional (7.5%) HP:0001263
2 short stature 31 occasional (7.5%) HP:0004322
3 areflexia 31 HP:0001284
4 peripheral neuropathy 31 HP:0009830
5 hyporeflexia 31 HP:0001265

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
Neurologic Peripheral Nervous System:
areflexia
hyporeflexia
distal sensory loss, panmodal (retained in some patients)
spontaneous pain (1 patient)
decreased or absent sensory potentials in the sural, ulnar and median nerves
more
Growth Height:
short stature (1 patient)

Skeletal Feet:
ulceration and amputation of the toes due to sensory loss
equinus deformities (1 patient)

Neurologic Central Nervous System:
delayed psychomotor development (1 patient)

Skeletal Hands:
ulceration and amputation of the fingers due to sensory loss

Muscle Soft Tissue:
distal leg muscle atrophy
distal weakness, upper and lower limbs (variable)
paralysis of the lower limbs (later)

Clinical features from OMIM®:

614213 (Updated 20-May-2021)

MGI Mouse Phenotypes related to Neuropathy, Hereditary Sensory, Type Iic:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 nervous system MP:0003631 9.17 AP4B1 AP4E1 FA2H KIF1A REEP1 SPG11

Drugs & Therapeutics for Neuropathy, Hereditary Sensory, Type Iic

Search Clinical Trials , NIH Clinical Center for Neuropathy, Hereditary Sensory, Type Iic

Genetic Tests for Neuropathy, Hereditary Sensory, Type Iic

Anatomical Context for Neuropathy, Hereditary Sensory, Type Iic

MalaCards organs/tissues related to Neuropathy, Hereditary Sensory, Type Iic:

40
Brain

Publications for Neuropathy, Hereditary Sensory, Type Iic

Articles related to Neuropathy, Hereditary Sensory, Type Iic:

(show all 16)
# Title Authors PMID Year
1
KIF1A, an axonal transporter of synaptic vesicles, is mutated in hereditary sensory and autonomic neuropathy type 2. 6 57
21820098 2011
2
Going Too Far Is the Same as Falling Short†: Kinesin-3 Family Members in Hereditary Spastic Paraplegia. 6
31616253 2019
3
A de novo dominant mutation in KIF1A associated with axonal neuropathy, spasticity and autism spectrum disorder. 6
28834584 2017
4
Massive sequencing of 70 genes reveals a myriad of missing genes or mechanisms to be uncovered in hereditary spastic paraplegias. 6
28832565 2017
5
Autosomal dominant transmission of complicated hereditary spastic paraplegia due to a dominant negative mutation of KIF1A, SPG30 gene. 6
28970574 2017
6
Genomic diagnosis for children with intellectual disability and/or developmental delay. 6
28554332 2017
7
Novel De Novo Mutations in KIF1A as a Cause of Hereditary Spastic Paraplegia With Progressive Central Nervous System Involvement. 6
27034427 2016
8
De novo KIF1A mutations cause intellectual deficit, cerebellar atrophy, lower limb spasticity and visual disturbance. 6
26354034 2015
9
Variants in KIF1A gene in dominant and sporadic forms of hereditary spastic paraparesis. 6
26410750 2015
10
Dominant transmission of de novo KIF1A motor domain variant underlying pure spastic paraplegia. 6
25585697 2015
11
De novo mutations in KIF1A cause progressive encephalopathy and brain atrophy. 6
26125038 2015
12
De novo mutations in the motor domain of KIF1A cause cognitive impairment, spastic paraparesis, axonal neuropathy, and cerebellar atrophy. 6
25265257 2015
13
KIF1A mutation in a patient with progressive neurodegeneration. 6
25253658 2014
14
KIF1A missense mutations in SPG30, an autosomal recessive spastic paraplegia: distinct phenotypes according to the nature of the mutations. 6
22258533 2012
15
Excess of de novo deleterious mutations in genes associated with glutamatergic systems in nonsyndromic intellectual disability. 6
21376300 2011
16
Multigeneration family with dominant SPG30 hereditary spastic paraplegia. 61
29159194 2017

Variations for Neuropathy, Hereditary Sensory, Type Iic

ClinVar genetic disease variations for Neuropathy, Hereditary Sensory, Type Iic:

6 (show top 50) (show all 576)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 KIF1A NM_001244008.2(KIF1A):c.5271dup (p.Ser1758fs) Duplication Pathogenic 65875 rs587778798 GRCh37: 2:241657528-241657529
GRCh38: 2:240718111-240718112
2 KIF1A NM_001244008.2(KIF1A):c.2840del (p.Leu947fs) Deletion Pathogenic 65859 rs587778791 GRCh37: 2:241696754-241696754
GRCh38: 2:240757337-240757337
3 KIF1A NM_004321.7(KIF1A):c.304G>A (p.Gly102Ser) SNV Pathogenic 422067 rs1064795534 GRCh37: 2:241727527-241727527
GRCh38: 2:240788110-240788110
4 KIF1A NM_004321.7(KIF1A):c.773C>T (p.Thr258Met) SNV Pathogenic 464261 rs1553638086 GRCh37: 2:241723181-241723181
GRCh38: 2:240783764-240783764
5 KIF1A NM_004321.7(KIF1A):c.38G>A (p.Arg13His) SNV Pathogenic 209165 rs797045050 GRCh37: 2:241737132-241737132
GRCh38: 2:240797715-240797715
6 KIF1A NM_001244008.2(KIF1A):c.2840del (p.Leu947fs) Deletion Pathogenic 65859 rs587778791 GRCh37: 2:241696754-241696754
GRCh38: 2:240757337-240757337
7 KIF1A NM_004321.7(KIF1A):c.1927C>T (p.Gln643Ter) SNV Pathogenic 568993 rs748477031 GRCh37: 2:241702504-241702504
GRCh38: 2:240763087-240763087
8 KIF1A NM_004321.7(KIF1A):c.296C>T (p.Thr99Met) SNV Pathogenic 30169 rs387906799 GRCh37: 2:241727535-241727535
GRCh38: 2:240788118-240788118
9 KIF1A NM_004321.7(KIF1A):c.206C>T (p.Ser69Leu) SNV Pathogenic 188057 rs786200949 GRCh37: 2:241727625-241727625
GRCh38: 2:240788208-240788208
10 KIF1A NM_004321.7(KIF1A):c.3523C>T (p.Arg1175Ter) SNV Pathogenic 576241 rs368078424 GRCh37: 2:241679550-241679550
GRCh38: 2:240740133-240740133
11 KIF1A NM_004321.7(KIF1A):c.920G>A (p.Arg307Gln) SNV Pathogenic 418275 rs1064793161 GRCh37: 2:241715306-241715306
GRCh38: 2:240775889-240775889
12 KIF1A NM_004321.7(KIF1A):c.761G>A (p.Arg254Gln) SNV Pathogenic 280500 rs886041692 GRCh37: 2:241723193-241723193
GRCh38: 2:240783776-240783776
13 KIF1A NM_004321.7(KIF1A):c.737T>G (p.Leu246Arg) SNV Pathogenic 647033 rs1575626071 GRCh37: 2:241723217-241723217
GRCh38: 2:240783800-240783800
14 KIF1A NM_004321.7(KIF1A):c.4678C>T (p.Gln1560Ter) SNV Pathogenic 664959 rs1575514086 GRCh37: 2:241659231-241659231
GRCh38: 2:240719814-240719814
15 KIF1A NM_004321.7(KIF1A):c.2323C>T (p.Arg775Ter) SNV Pathogenic 665003 rs1327297188 GRCh37: 2:241700176-241700176
GRCh38: 2:240760759-240760759
16 KIF1A NM_004321.7(KIF1A):c.757G>A (p.Glu253Lys) SNV Pathogenic 162059 rs672601369 GRCh37: 2:241723197-241723197
GRCh38: 2:240783780-240783780
17 KIF1A NM_004321.7(KIF1A):c.946C>T (p.Arg316Trp) SNV Pathogenic 162060 rs672601370 GRCh37: 2:241715280-241715280
GRCh38: 2:240775863-240775863
18 KIF1A NC_000002.12:g.(?_240717364)_(240797752_?)del Deletion Pathogenic 832086 GRCh37: 2:241656781-241737169
GRCh38:
19 KIF1A NM_001244008.2(KIF1A):c.10del (p.Ala4fs) Deletion Pathogenic 850864 GRCh37: 2:241737160-241737160
GRCh38: 2:240797743-240797743
20 KIF1A NM_001244008.2(KIF1A):c.104C>A (p.Thr35Asn) SNV Likely pathogenic 864523 GRCh37: 2:241737066-241737066
GRCh38: 2:240797649-240797649
21 KIF1A NM_004321.7(KIF1A):c.914C>T (p.Pro305Leu) SNV Likely pathogenic 428604 rs1131690804 GRCh37: 2:241715312-241715312
GRCh38: 2:240775895-240775895
22 KIF1A NM_004321.7(KIF1A):c.799G>C (p.Glu267Gln) SNV Likely pathogenic 645308 rs1553637932 GRCh37: 2:241722526-241722526
GRCh38: 2:240783109-240783109
23 KIF1A NM_004321.7(KIF1A):c.4016-2A>G SNV Likely pathogenic 574244 rs1559477798 GRCh37: 2:241662977-241662977
GRCh38: 2:240723560-240723560
24 KIF1A NM_004321.7(KIF1A):c.749C>A (p.Ala250Asp) SNV Likely pathogenic 580199 rs1559526692 GRCh37: 2:241723205-241723205
GRCh38: 2:240783788-240783788
25 KIF1A NM_004321.7(KIF1A):c.821C>T (p.Ser274Leu) SNV Likely pathogenic 211298 rs797045655 GRCh37: 2:241722504-241722504
GRCh38: 2:240783087-240783087
26 KIF1A NM_004321.7(KIF1A):c.32G>A (p.Arg11Gln) SNV Likely pathogenic 654820 rs1575654528 GRCh37: 2:241737138-241737138
GRCh38: 2:240797721-240797721
27 KIF1A NM_004321.7(KIF1A):c.609-1G>A SNV Likely pathogenic 574529 rs1559527796 GRCh37: 2:241724518-241724518
GRCh38: 2:240785101-240785101
28 KIF1A NM_001244008.2(KIF1A):c.760C>T (p.Arg254Trp) SNV Likely pathogenic 245636 rs879253888 GRCh37: 2:241723194-241723194
GRCh38: 2:240783777-240783777
29 KIF1A NM_004321.7(KIF1A):c.1394+2T>A SNV Likely pathogenic 532873 rs751051049 GRCh37: 2:241709042-241709042
GRCh38: 2:240769625-240769625
30 KIF1A NM_004321.7(KIF1A):c.2089+1G>C SNV Likely pathogenic 532854 rs1553633687 GRCh37: 2:241702135-241702135
GRCh38: 2:240762718-240762718
31 KIF1A NM_004321.7(KIF1A):c.4565+1G>C SNV Likely pathogenic 532856 rs1553624714 GRCh37: 2:241660330-241660330
GRCh38: 2:240720913-240720913
32 KIF1A NM_004321.7(KIF1A):c.2659G>A (p.Val887Ile) SNV Uncertain significance 532857 rs1355031628 GRCh37: 2:241689861-241689861
GRCh38: 2:240750444-240750444
33 KIF1A NM_004321.7(KIF1A):c.2242C>G (p.Gln748Glu) SNV Uncertain significance 432631 rs369410320 GRCh37: 2:241700257-241700257
GRCh38: 2:240760840-240760840
34 KIF1A NM_004321.7(KIF1A):c.658G>A (p.Val220Ile) SNV Uncertain significance 532858 rs201314877 GRCh37: 2:241724468-241724468
GRCh38: 2:240785051-240785051
35 KIF1A NM_004321.7(KIF1A):c.4789G>A (p.Val1597Met) SNV Uncertain significance 435626 rs769279843 GRCh37: 2:241658545-241658545
GRCh38: 2:240719128-240719128
36 KIF1A NM_004321.7(KIF1A):c.3206G>A (p.Ser1069Asn) SNV Uncertain significance 532859 rs776451256 GRCh37: 2:241683434-241683434
GRCh38: 2:240744017-240744017
37 KIF1A NM_004321.7(KIF1A):c.2983C>T (p.Arg995Cys) SNV Uncertain significance 532860 rs745556410 GRCh37: 2:241685243-241685243
GRCh38: 2:240745826-240745826
38 KIF1A NM_004321.7(KIF1A):c.107-10C>A SNV Uncertain significance 532861 rs765136234 GRCh37: 2:241728739-241728739
GRCh38: 2:240789322-240789322
39 KIF1A NM_004321.7(KIF1A):c.3954-6C>T SNV Uncertain significance 532862 rs1440735433 GRCh37: 2:241663459-241663459
GRCh38: 2:240724042-240724042
40 KIF1A NM_004321.7(KIF1A):c.2320G>T (p.Asp774Tyr) SNV Uncertain significance 532863 rs1441080561 GRCh37: 2:241700179-241700179
GRCh38: 2:240760762-240760762
41 KIF1A NM_004321.7(KIF1A):c.1646G>A (p.Gly549Glu) SNV Uncertain significance 532864 rs1553634474 GRCh37: 2:241706343-241706343
GRCh38: 2:240766926-240766926
42 KIF1A NM_004321.7(KIF1A):c.4405C>T (p.His1469Tyr) SNV Uncertain significance 246058 rs528171871 GRCh37: 2:241661259-241661259
GRCh38: 2:240721842-240721842
43 KIF1A NM_004321.7(KIF1A):c.4714G>A (p.Val1572Ile) SNV Uncertain significance 435638 rs774256831 GRCh37: 2:241659195-241659195
GRCh38: 2:240719778-240719778
44 KIF1A NM_004321.7(KIF1A):c.223C>T (p.Arg75Trp) SNV Uncertain significance 191158 rs778224699 GRCh37: 2:241727608-241727608
GRCh38: 2:240788191-240788191
45 KIF1A NM_004321.7(KIF1A):c.1712A>G (p.Lys571Arg) SNV Uncertain significance 532865 rs374248209 GRCh37: 2:241705156-241705156
GRCh38: 2:240765739-240765739
46 KIF1A NM_004321.7(KIF1A):c.2674+5G>A SNV Uncertain significance 532866 rs200583714 GRCh37: 2:241689841-241689841
GRCh38: 2:240750424-240750424
47 KIF1A NM_004321.7(KIF1A):c.954C>A (p.Asn318Lys) SNV Uncertain significance 532867 rs1553635953 GRCh37: 2:241715272-241715272
GRCh38: 2:240775855-240775855
48 KIF1A NM_004321.7(KIF1A):c.4783C>T (p.Arg1595Cys) SNV Uncertain significance 464258 rs772521110 GRCh37: 2:241658551-241658551
GRCh38: 2:240719134-240719134
49 KIF1A NM_004321.7(KIF1A):c.1531A>G (p.Ile511Val) SNV Uncertain significance 464213 rs1433726322 GRCh37: 2:241706702-241706702
GRCh38: 2:240767285-240767285
50 KIF1A NM_004321.7(KIF1A):c.3868G>A (p.Val1290Ile) SNV Uncertain significance 464244 rs373900978 GRCh37: 2:241664773-241664773
GRCh38: 2:240725356-240725356

Expression for Neuropathy, Hereditary Sensory, Type Iic

Search GEO for disease gene expression data for Neuropathy, Hereditary Sensory, Type Iic.

Pathways for Neuropathy, Hereditary Sensory, Type Iic

GO Terms for Neuropathy, Hereditary Sensory, Type Iic

Cellular components related to Neuropathy, Hereditary Sensory, Type Iic according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 membrane coat GO:0030117 9.16 AP4E1 AP4B1
2 endosome lumen GO:0031904 8.96 AP4E1 AP4B1
3 AP-4 adaptor complex GO:0030124 8.62 AP4E1 AP4B1

Biological processes related to Neuropathy, Hereditary Sensory, Type Iic according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 vesicle-mediated transport GO:0016192 9.13 KIF1A AP4E1 AP4B1
2 protein targeting GO:0006605 8.62 AP4E1 AP4B1

Sources for Neuropathy, Hereditary Sensory, Type Iic

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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