PNKD1
MCID: PRX088
MIFTS: 39

Paroxysmal Nonkinesigenic Dyskinesia 1 (PNKD1)

Categories: Genetic diseases, Muscle diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Paroxysmal Nonkinesigenic Dyskinesia 1

MalaCards integrated aliases for Paroxysmal Nonkinesigenic Dyskinesia 1:

Name: Paroxysmal Nonkinesigenic Dyskinesia 1 57 12 72 29 6
Paroxysmal Dystonic Choreoathetosis 57 73 72
Mount-Reback Syndrome 57 73 72
Dystonia 8 57 72
Pnkd1 57 72
Fpd1 57 72
Dyt8 57 72
Pdc 57 72
Dyskinesia, Nonkinesigenic, Paroxysmal, Type 1 39
Choreoathetosis, Familial Paroxysmal; Fpd1 57
Paroxysmal Dystonic Choreoathetosis; Pdc 57
Choreoathetosis, Familial Paroxysmal 57
Paroxysmal Nonkinesigenic Dyskinesia 70
Choreoathetosis Familial Paroxysmal 73
Familial Paroxysmal Choreoathetosis 72
Choreoathetosis, Nonkinesigenic 57
Choreoathetosis Nonkinesigenic 72
Dystonia 8; Dyt8 57
Dystonia-8 72

Characteristics:

OMIM®:

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

Miscellaneous:
onset in infancy or childhood
symptoms precipitated by alcohol, caffeine, fatigue, stress, exertion, ovulation, menstruation
frequency and severity of symptoms do not worsen with age
clonazepam and diazepam may be effective in preventing or lessening severity


HPO:

31
paroxysmal nonkinesigenic dyskinesia 1:
Inheritance autosomal dominant inheritance
Onset and clinical course infantile onset childhood onset


Classifications:



External Ids:

Disease Ontology 12 DOID:0090049
OMIM® 57 118800
OMIM Phenotypic Series 57 PS128100
ICD10 32 G24.8
UMLS 70 C1869117

Summaries for Paroxysmal Nonkinesigenic Dyskinesia 1

UniProtKB/Swiss-Prot : 72 Dystonia 8: A paroxysmal non-kinesigenic dystonia/dyskinesia. Dystonia is defined by the presence of sustained involuntary muscle contractions, often leading to abnormal postures. Dystonia type 8 is characterized by attacks of involuntary movements brought on by stress, alcohol, fatigue or caffeine. The attacks generally last between a few seconds and four hours or longer. The attacks may begin in one limb and spread throughout the body, including the face.

MalaCards based summary : Paroxysmal Nonkinesigenic Dyskinesia 1, also known as paroxysmal dystonic choreoathetosis, is related to familial paroxysmal nonkinesigenic dyskinesia and paroxysmal dyskinesia, and has symptoms including torticollis, myokymia and dystonia, paroxysmal. An important gene associated with Paroxysmal Nonkinesigenic Dyskinesia 1 is PNKD (PNKD Metallo-Beta-Lactamase Domain Containing). Affiliated tissues include kidney, liver and myeloid, and related phenotypes are dysarthria and dysphagia

Disease Ontology : 12 A dystonia that is characterized by attacks of dystonic or choreathetotic movements precipitated by stress, fatigue, coffee or alcohol intake or menstruation, and has material basis in autosomal dominant inheritance of heterozygous mutation in the PNKD metallo-beta-lactamase domain containing gene on chromosome 2q35.

OMIM® : 57 Paroxysmal nonkinesigenic dyskinesia-1 (PNKD1) is an autosomal dominant movement disorder characterized by attacks of dystonia, chorea, and athetosis. Attacks may be precipitated by stress, fatigue, caffeine, alcohol, ovulation, or menstruation, and may last minutes to hours (summary by Chen et al., 2005, Ghezzi et al., 2009). (118800) (Updated 20-May-2021)

Wikipedia : 73 Paroxysmal Nonkinesigenic Dyskinesia (PNKD) is an episodic movement disorder first described by Mount... more...

Related Diseases for Paroxysmal Nonkinesigenic Dyskinesia 1

Diseases in the Familial Paroxysmal Nonkinesigenic Dyskinesia family:

Paroxysmal Nonkinesigenic Dyskinesia 1 Paroxysmal Nonkinesigenic Dyskinesia 2

Diseases related to Paroxysmal Nonkinesigenic Dyskinesia 1 via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 140)
# Related Disease Score Top Affiliating Genes
1 familial paroxysmal nonkinesigenic dyskinesia 31.6 PRRT2 PNKD BRCA2
2 paroxysmal dyskinesia 30.1 PRRT2 PNKD
3 episodic kinesigenic dyskinesia 1 29.8 PRRT2 PNKD
4 choreatic disease 29.7 PRRT2 PNKD
5 movement disease 29.7 PRRT2 PNKD
6 pyruvate dehydrogenase e1-alpha deficiency 11.5
7 amyotrophic lateral sclerosis-parkinsonism/dementia complex 1 11.2
8 retinitis pigmentosa 11.2
9 dihydrolipoamide dehydrogenase deficiency 11.1
10 amyotrophic lateral sclerosis 1 11.1
11 usher syndrome 11.0
12 cone-rod dystrophy 2 11.0
13 respiratory allergy 10.9
14 pollen allergy 10.9
15 timothy grass allergy 10.9
16 fruit allergy 10.9
17 apple allergy 10.9
18 orange allergy 10.9
19 melon allergy 10.9
20 peach allergy 10.9
21 tomato allergy 10.9
22 fish allergy 10.9
23 legume allergy 10.9
24 nasal cavity disease 10.9
25 nose disease 10.9
26 primary biliary cholangitis 10.5
27 dystonia 10.5
28 liver cirrhosis 10.5
29 parkinsonism 10.5
30 lateral sclerosis 10.5
31 hypoparathyroidism 10.4
32 insulinoma 10.3
33 hypoglycemia 10.3
34 paroxysmal choreoathetosis 10.3
35 alzheimer disease 10.2
36 chorea, childhood-onset, with psychomotor retardation 10.1
37 ataxia and polyneuropathy, adult-onset 10.1
38 abetalipoproteinemia 10.1
39 hyperkalemic periodic paralysis 10.1
40 seizures, benign familial neonatal, 1 10.1
41 pharyngitis 10.1
42 macrocytic anemia 10.1
43 hemolytic anemia 10.1
44 toxoplasmosis 10.1
45 seizure disorder 10.1
46 paroxysmal dystonia 10.1
47 periodic paralysis 10.1
48 supranuclear palsy, progressive, 1 10.1
49 lactic acidosis 10.1
50 herpes simplex 10.1

Graphical network of the top 20 diseases related to Paroxysmal Nonkinesigenic Dyskinesia 1:



Diseases related to Paroxysmal Nonkinesigenic Dyskinesia 1

Symptoms & Phenotypes for Paroxysmal Nonkinesigenic Dyskinesia 1

Human phenotypes related to Paroxysmal Nonkinesigenic Dyskinesia 1:

31 (show all 7)
# Description HPO Frequency HPO Source Accession
1 dysarthria 31 HP:0001260
2 dysphagia 31 HP:0002015
3 torticollis 31 HP:0000473
4 facial grimacing 31 HP:0000273
5 myokymia 31 HP:0002411
6 paroxysmal dystonia 31 HP:0002268
7 paroxysmal choreoathetosis 31 HP:0007098

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
Neurologic Central Nervous System:
dysarthria
dysphagia
myokymia
dystonia, episodic
choreoathetosis, episodic
more
Head And Neck Face:
facial grimacing

Head And Neck Neck:
torticollis

Clinical features from OMIM®:

118800 (Updated 20-May-2021)

UMLS symptoms related to Paroxysmal Nonkinesigenic Dyskinesia 1:


torticollis; myokymia; dystonia, paroxysmal

Drugs & Therapeutics for Paroxysmal Nonkinesigenic Dyskinesia 1

Search Clinical Trials , NIH Clinical Center for Paroxysmal Nonkinesigenic Dyskinesia 1

Genetic Tests for Paroxysmal Nonkinesigenic Dyskinesia 1

Genetic tests related to Paroxysmal Nonkinesigenic Dyskinesia 1:

# Genetic test Affiliating Genes
1 Paroxysmal Nonkinesigenic Dyskinesia 1 29 PNKD

Anatomical Context for Paroxysmal Nonkinesigenic Dyskinesia 1

MalaCards organs/tissues related to Paroxysmal Nonkinesigenic Dyskinesia 1:

40
Kidney, Liver, Myeloid

Publications for Paroxysmal Nonkinesigenic Dyskinesia 1

Articles related to Paroxysmal Nonkinesigenic Dyskinesia 1:

(show all 28)
# Title Authors PMID Year
1
Paroxysmal non-kinesigenic dyskinesia is caused by mutations of the MR-1 mitochondrial targeting sequence. 57 6
19124534 2009
2
Significance of recurrent mutations in the myofibrillogenesis regulator 1 gene. 57 6
16216955 2005
3
Presence of alanine-to-valine substitutions in myofibrillogenesis regulator 1 in paroxysmal nonkinesigenic dyskinesia: confirmation in 2 kindreds. 6 57
15824259 2005
4
The gene for paroxysmal non-kinesigenic dyskinesia encodes an enzyme in a stress response pathway. 6 57
15496428 2004
5
Myofibrillogenesis regulator 1 gene mutations cause paroxysmal dystonic choreoathetosis. 57 6
15262732 2004
6
Further localization of a gene for paroxysmal dystonic choreoathetosis to a 5-cM region on chromosome 2q34. 57 6
9490305 1998
7
Paroxysmal dystonic choreoathetosis: tight linkage to chromosome 2q. 6 57
8659518 1996
8
The evolving spectrum of PRRT2-associated paroxysmal diseases. 6
26598493 2015
9
A case of familial paroxysmal nonkinesigenic dyskinesia due to mutation of the PNKD gene in Chinese Mainland. 6
25107857 2015
10
Familial paroxysmal nonkinesigenic dyskinesia: clinical and genetic analysis of a Taiwanese family. 6
22967746 2012
11
Exome sequencing identifies truncating mutations in PRRT2 that cause paroxysmal kinesigenic dyskinesia. 6
22101681 2011
12
Mutations in PNKD causing paroxysmal dyskinesia alters protein cleavage and stability. 6
21487022 2011
13
Genotype-phenotype correlation of paroxysmal nonkinesigenic dyskinesia. 57
17515540 2007
14
Acid-sensing ion channel (ASIC) 4 gene: physical mapping, genomic organisation, and evaluation as a candidate for paroxysmal dystonia. 57
11571555 2001
15
Clinical and molecular genetics of primary dystonias. 57
10737119 1998
16
A gene for familial paroxysmal dyskinesia (FPD1) maps to chromosome 2q. 57
8659517 1996
17
Paroxysmal dyskinesias: clinical features and classification. 57
7574453 1995
18
Familial dystonic choreoathetosis with myokymia; a sleep responsive disorder. 57
1783923 1991
19
The genetics of primary torsion dystonia. 57
2404852 1990
20
Familial paroxysmal dystonic choreoathetosis: a neurologic disorder simulating psychiatric illness. 57
7206405 1981
21
Paroxysmal kinesignenic choreoathetosis. Report of a case relieved by carbamazepine. 57
4238560 1969
22
Paroxysmal dystonic choreoathetosis. A family study and review of the literature. 57
5691173 1968
23
An uncommon seizure disorder: familial paroxysmal choreoathetosis. 57
5939038 1966
24
Paroxysmal choreo-athetosis. A form of reflex epilepsy. 57
5906466 1966
25
Familial paroxysmal chorea-athetosis. 57
14000878 1963
26
Colorectal cancer genetic variants are also associated with serrated polyposis syndrome susceptibility. 61
32170005 2020
27
Genetic and phenotypic heterogeneity in sporadic and familial forms of paroxysmal dyskinesia. 61
22752065 2013
28
The monogenic primary dystonias. 61
19578124 2009

Variations for Paroxysmal Nonkinesigenic Dyskinesia 1

ClinVar genetic disease variations for Paroxysmal Nonkinesigenic Dyskinesia 1:

6 (show top 50) (show all 236)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 PNKD NM_015488.5(PNKD):c.26C>T (p.Ala9Val) SNV Pathogenic 1892 rs121434511 GRCh37: 2:219135284-219135284
GRCh38: 2:218270561-218270561
2 PNKD NM_015488.5(PNKD):c.97G>C (p.Ala33Pro) SNV Pathogenic 1894 rs121434513 GRCh37: 2:219136133-219136133
GRCh38: 2:218271410-218271410
3 PNKD NM_015488.5(PNKD):c.20C>T (p.Ala7Val) SNV Pathogenic 1893 rs121434512 GRCh37: 2:219135278-219135278
GRCh38: 2:218270555-218270555
4 PRRT2 NM_145239.3(PRRT2):c.649dup (p.Arg217fs) Duplication Pathogenic 65758 GRCh37: 16:29825015-29825016
GRCh38: 16:29813694-29813695
5 BRCA2 NM_000059.4(BRCA2):c.4548del (p.Glu1518fs) Deletion Likely pathogenic 976078 GRCh37: 13:32913040-32913040
GRCh38: 13:32338903-32338903
6 PNKD NM_015488.5(PNKD):c.237-16514T>A SNV Conflicting interpretations of pathogenicity 930368 GRCh37: 2:219187992-219187992
GRCh38: 2:218323269-218323269
7 CATIP-AS2 , PNKD NM_015488.5(PNKD):c.299C>T (p.Ala100Val) SNV Conflicting interpretations of pathogenicity 334311 rs374645683 GRCh37: 2:219204568-219204568
GRCh38: 2:218339845-218339845
8 PNKD NM_015488.5(PNKD):c.20C>T (p.Ala7Val) SNV Conflicting interpretations of pathogenicity 1893 rs121434512 GRCh37: 2:219135278-219135278
GRCh38: 2:218270555-218270555
9 CATIP-AS2 , PNKD NM_015488.5(PNKD):c.*1476A>G SNV Uncertain significance 334350 rs886055623 GRCh37: 2:219211180-219211180
GRCh38: 2:218346457-218346457
10 PNKD NM_015488.5(PNKD):c.101C>G (p.Ser34Cys) SNV Uncertain significance 650642 rs146016925 GRCh37: 2:219136137-219136137
GRCh38: 2:218271414-218271414
11 CATIP-AS2 , PNKD NM_015488.5(PNKD):c.673G>A (p.Ala225Thr) SNV Uncertain significance 840880 GRCh37: 2:219206759-219206759
GRCh38: 2:218342036-218342036
12 CATIP-AS2 , PNKD NM_015488.5(PNKD):c.1009C>T (p.Arg337Cys) SNV Uncertain significance 841872 GRCh37: 2:219209555-219209555
GRCh38: 2:218344832-218344832
13 PNKD NM_015488.5(PNKD):c.67G>A (p.Gly23Arg) SNV Uncertain significance 935685 GRCh37: 2:219135325-219135325
GRCh38: 2:218270602-218270602
14 CATIP-AS2 , PNKD NM_015488.5(PNKD):c.1127G>A (p.Arg376His) SNV Uncertain significance 940555 GRCh37: 2:219209673-219209673
GRCh38: 2:218344950-218344950
15 CATIP-AS2 , PNKD NM_015488.5(PNKD):c.574C>T (p.Arg192Trp) SNV Uncertain significance 940589 GRCh37: 2:219206306-219206306
GRCh38: 2:218341583-218341583
16 CATIP-AS2 , PNKD NM_015488.5(PNKD):c.708C>A (p.Tyr236Ter) SNV Uncertain significance 948389 GRCh37: 2:219206794-219206794
GRCh38: 2:218342071-218342071
17 CATIP-AS2 , PNKD NM_015488.5(PNKD):c.384G>A (p.Ser128=) SNV Uncertain significance 961113 GRCh37: 2:219204783-219204783
GRCh38: 2:218340060-218340060
18 CATIP-AS2 , PNKD NM_015488.5(PNKD):c.1102C>G (p.Arg368Gly) SNV Uncertain significance 468623 rs185906233 GRCh37: 2:219209648-219209648
GRCh38: 2:218344925-218344925
19 CATIP-AS2 , PNKD NM_015488.5(PNKD):c.1067C>T (p.Pro356Leu) SNV Uncertain significance 468622 rs1553516179 GRCh37: 2:219209613-219209613
GRCh38: 2:218344890-218344890
20 CATIP-AS2 , PNKD NM_015488.5(PNKD):c.716A>T (p.Asp239Val) SNV Uncertain significance 536500 rs1553674341 GRCh37: 2:219206802-219206802
GRCh38: 2:218342079-218342079
21 CATIP-AS2 , PNKD NM_015488.5(PNKD):c.698A>G (p.His233Arg) SNV Uncertain significance 644743 rs994484237 GRCh37: 2:219206784-219206784
GRCh38: 2:218342061-218342061
22 CATIP-AS2 , PNKD NM_015488.5(PNKD):c.415C>T (p.Gln139Ter) SNV Uncertain significance 651066 rs372675235 GRCh37: 2:219204814-219204814
GRCh38: 2:218340091-218340091
23 CATIP-AS2 , PNKD NM_015488.5(PNKD):c.409G>A (p.Asp137Asn) SNV Uncertain significance 653927 rs139792709 GRCh37: 2:219204808-219204808
GRCh38: 2:218340085-218340085
24 CATIP-AS2 , PNKD NM_015488.5(PNKD):c.1148del (p.Lys383fs) Deletion Uncertain significance 655463 rs1574724140 GRCh37: 2:219209693-219209693
GRCh38: 2:218344970-218344970
25 PNKD NM_015488.5(PNKD):c.230T>C (p.Leu77Pro) SNV Uncertain significance 656211 rs752738498 GRCh37: 2:219136266-219136266
GRCh38: 2:218271543-218271543
26 CATIP-AS2 , PNKD NM_015488.5(PNKD):c.404T>C (p.Ile135Thr) SNV Uncertain significance 660281 rs1292612483 GRCh37: 2:219204803-219204803
GRCh38: 2:218340080-218340080
27 CATIP-AS2 , PNKD NM_015488.5(PNKD):c.326C>T (p.Ser109Leu) SNV Uncertain significance 665073 rs985467569 GRCh37: 2:219204595-219204595
GRCh38: 2:218339872-218339872
28 CATIP-AS2 , PNKD NM_015488.5(PNKD):c.984+1G>A SNV Uncertain significance 666192 rs577027430 GRCh37: 2:219209294-219209294
GRCh38: 2:218344571-218344571
29 PNKD NM_015488.5(PNKD):c.65G>A (p.Arg22Gln) SNV Uncertain significance 241061 rs878855015 GRCh37: 2:219135323-219135323
GRCh38: 2:218270600-218270600
30 CATIP-AS2 , PNKD NM_015488.5(PNKD):c.781+5G>C SNV Uncertain significance 574579 rs757255934 GRCh37: 2:219206872-219206872
GRCh38: 2:218342149-218342149
31 CATIP-AS2 , PNKD NM_015488.5(PNKD):c.998T>G (p.Leu333Arg) SNV Uncertain significance 580829 rs1005386085 GRCh37: 2:219209544-219209544
GRCh38: 2:218344821-218344821
32 CATIP-AS2 , PNKD NM_015488.5(PNKD):c.693del (p.Gly232fs) Deletion Uncertain significance 662584 rs773192502 GRCh37: 2:219206778-219206778
GRCh38: 2:218342055-218342055
33 CATIP-AS2 , PNKD NM_015488.5(PNKD):c.307C>T (p.Arg103Cys) SNV Uncertain significance 837794 GRCh37: 2:219204576-219204576
GRCh38: 2:218339853-218339853
34 CATIP-AS2 , PNKD NM_015488.5(PNKD):c.955C>T (p.Gln319Ter) SNV Uncertain significance 853926 GRCh37: 2:219209264-219209264
GRCh38: 2:218344541-218344541
35 CATIP-AS2 , PNKD NM_015488.5(PNKD):c.427G>A (p.Ala143Thr) SNV Uncertain significance 933712 GRCh37: 2:219204826-219204826
GRCh38: 2:218340103-218340103
36 CATIP-AS2 , PNKD NM_015488.5(PNKD):c.679C>G (p.Pro227Ala) SNV Uncertain significance 935363 GRCh37: 2:219206765-219206765
GRCh38: 2:218342042-218342042
37 CATIP-AS2 , PNKD NM_015488.5(PNKD):c.692A>C (p.Gln231Pro) SNV Uncertain significance 935644 GRCh37: 2:219206778-219206778
GRCh38: 2:218342055-218342055
38 CATIP-AS2 , PNKD NM_015488.5(PNKD):c.1146C>G (p.His382Gln) SNV Uncertain significance 936595 GRCh37: 2:219209692-219209692
GRCh38: 2:218344969-218344969
39 CATIP-AS2 , PNKD NM_015488.5(PNKD):c.1090G>A (p.Asp364Asn) SNV Uncertain significance 936725 GRCh37: 2:219209636-219209636
GRCh38: 2:218344913-218344913
40 PNKD NM_015488.5(PNKD):c.76G>A (p.Ala26Thr) SNV Uncertain significance 937878 GRCh37: 2:219136112-219136112
GRCh38: 2:218271389-218271389
41 CATIP-AS2 , PNKD NM_015488.5(PNKD):c.932G>A (p.Arg311Gln) SNV Uncertain significance 943951 GRCh37: 2:219209241-219209241
GRCh38: 2:218344518-218344518
42 CATIP-AS2 , PNKD NM_015488.5(PNKD):c.280C>T (p.Arg94Ter) SNV Uncertain significance 946965 GRCh37: 2:219204549-219204549
GRCh38: 2:218339826-218339826
43 PNKD NM_015488.5(PNKD):c.55C>T (p.Arg19Cys) SNV Uncertain significance 950139 GRCh37: 2:219135313-219135313
GRCh38: 2:218270590-218270590
44 CATIP-AS2 , PNKD NM_015488.5(PNKD):c.1103G>A (p.Arg368Gln) SNV Uncertain significance 954952 GRCh37: 2:219209649-219209649
GRCh38: 2:218344926-218344926
45 CATIP-AS2 , PNKD NM_015488.5(PNKD):c.1135A>T (p.Lys379Ter) SNV Uncertain significance 1000439 GRCh37: 2:219209681-219209681
GRCh38: 2:218344958-218344958
46 CATIP-AS2 , PNKD NM_015488.5(PNKD):c.371T>C (p.Ile124Thr) SNV Uncertain significance 1004107 GRCh37: 2:219204770-219204770
GRCh38: 2:218340047-218340047
47 PNKD NC_000002.11:g.(?_219204486)_(219209724_?)dup Duplication Uncertain significance 1004274 GRCh37: 2:219204486-219209724
GRCh38:
48 CATIP-AS2 , PNKD NM_015488.5(PNKD):c.465+2T>G SNV Uncertain significance 1006163 GRCh37: 2:219204866-219204866
GRCh38: 2:218340143-218340143
49 CATIP-AS2 , PNKD NM_015488.5(PNKD):c.566G>T (p.Arg189Leu) SNV Uncertain significance 1008167 GRCh37: 2:219206298-219206298
GRCh38: 2:218341575-218341575
50 CATIP-AS2 , PNKD NM_015488.5(PNKD):c.302G>C (p.Arg101Pro) SNV Uncertain significance 1009575 GRCh37: 2:219204571-219204571
GRCh38: 2:218339848-218339848

UniProtKB/Swiss-Prot genetic disease variations for Paroxysmal Nonkinesigenic Dyskinesia 1:

72
# Symbol AA change Variation ID SNP ID
1 PNKD p.Ala7Val VAR_034844 rs121434512
2 PNKD p.Ala9Val VAR_034845 rs121434511

Expression for Paroxysmal Nonkinesigenic Dyskinesia 1

Search GEO for disease gene expression data for Paroxysmal Nonkinesigenic Dyskinesia 1.

Pathways for Paroxysmal Nonkinesigenic Dyskinesia 1

GO Terms for Paroxysmal Nonkinesigenic Dyskinesia 1

Biological processes related to Paroxysmal Nonkinesigenic Dyskinesia 1 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 neuromuscular process controlling posture GO:0050884 8.62 PRRT2 PNKD

Sources for Paroxysmal Nonkinesigenic Dyskinesia 1

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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