HYRPRO2
MCID: HYP597
MIFTS: 43

Hyperprolinemia, Type Ii (HYRPRO2)

Categories: Blood diseases, Genetic diseases, Mental diseases, Metabolic diseases, Nephrological diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Hyperprolinemia, Type Ii

MalaCards integrated aliases for Hyperprolinemia, Type Ii:

Name: Hyperprolinemia, Type Ii 57 13 54
Hyperprolinemia Type 2 12 20 58 6 15 70
1-Pyrroline-5-Carboxylate Dehydrogenase Deficiency 57 72
Hyperprolinemia Type Ii 12 72
Hyrpro2 57 72
Hpii 57 72
Delta-1-Pyrroline-5-Carboxylate Dehydrogenase Deficiency 58
1 Alpha Pyrroline-5-Carboxylate Dehydrogenase Deficiency 20
Type 2 Hyperprolinemia 20
Hyperprolinemia 2 72

Characteristics:

Orphanet epidemiological data:

58
hyperprolinemia type 2
Inheritance: Autosomal recessive; Age of onset: All ages;

OMIM®:

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


HPO:

31
hyperprolinemia, type ii:
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 58  
Rare neurological diseases
Inborn errors of metabolism


External Ids:

Disease Ontology 12 DOID:0080543
OMIM® 57 239510
MeSH 44 D000592
MESH via Orphanet 45 C538385
ICD10 via Orphanet 33 E72.5
UMLS via Orphanet 71 C0268530 C2931835
Orphanet 58 ORPHA79101
MedGen 41 C2931835
UMLS 70 C2931835

Summaries for Hyperprolinemia, Type Ii

GARD : 20 Hyperprolinemia type 2 results in an excess of a particular protein building block ( amino acid ), called proline, in the blood. This condition generally occurs when proline is not broken down properly by the body. Hyperprolinemia type 2 causes proline levels in the blood to be 10 to 15 times higher than normal, and it also causes high levels of a related compound called pyrroline-5-carboxylate. Some people with this condition develop mild intellectual disability and seizures ; however, the symptoms of this disorder vary in severity among affected individuals.

MalaCards based summary : Hyperprolinemia, Type Ii, also known as hyperprolinemia type 2, is related to hyperprolinemia and delta-1-pyrroline-5-carboxylate dehydrogenase deficiency. An important gene associated with Hyperprolinemia, Type Ii is ALDH4A1 (Aldehyde Dehydrogenase 4 Family Member A1), and among its related pathways/superpathways are Metabolism and Histidine, lysine, phenylalanine, tyrosine, proline and tryptophan catabolism. Affiliated tissues include cortex, brain and skin, and related phenotypes are intellectual disability and prolinuria

Disease Ontology : 12 A hyperprolinemia that has material basis in homozygous or compound heterozygous mutation in the pyrroline-5-carboxylate dehydrogenase gene on chromosome 1p36.

UniProtKB/Swiss-Prot : 72 Hyperprolinemia 2: An inborn error of proline metabolism resulting in elevated plasma levels of proline and delta-1-pyrroline-5-carboxylate (P5C). The condition is considered to be benign, but affected individuals can exhibit neurological manifestations that vary in severity. Clinical signs include seizures, intellectual deficit and mild developmental delay.

More information from OMIM: 239510

Related Diseases for Hyperprolinemia, Type Ii

Diseases in the Hyperprolinemia family:

Hyperprolinemia, Type I Hyperprolinemia, Type Ii

Diseases related to Hyperprolinemia, Type Ii via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 31)
# Related Disease Score Top Affiliating Genes
1 hyperprolinemia 30.1 PRODH PNPO ALDH7A1 ALDH4A1 ALDH18A1
2 delta-1-pyrroline-5-carboxylate dehydrogenase deficiency 11.6
3 seizure disorder 10.2
4 alkaptonuria 10.1 PRODH MOCS2
5 sulfite oxidase deficiency, isolated 10.1 PNPO MOCS2
6 neu-laxova syndrome 2 10.1 ALDH4A1 ALDH18A1
7 holocarboxylase synthetase deficiency 10.0 PNPO PLPBP
8 hypophosphatasia 10.0 PNPO ALPL
9 autosomal recessive disease 10.0
10 neuritis 10.0
11 status epilepticus 10.0
12 lactic acidosis 10.0
13 pyridoxine deficiency anemia 10.0
14 pyridoxine deficiency 10.0
15 molybdenum cofactor deficiency 10.0 PNPO MOCS2
16 aromatic l-amino acid decarboxylase deficiency 10.0 PNPO PLPBP
17 argininemia 10.0 PRODH ALDH18A1
18 triiodothyronine receptor auxiliary protein 10.0
19 acquired immunodeficiency syndrome 10.0
20 gamma-amino butyric acid metabolism disorder 9.9 PRODH ALDH4A1 ALDH18A1
21 amino acid metabolic disorder 9.9 PRODH ALDH4A1
22 epilepsy, pyridoxine-dependent 9.9 PLPBP ALDH7A1
23 2,4-dienoyl-coa reductase deficiency 9.9 NADK2 DECR1
24 succinic semialdehyde dehydrogenase deficiency 9.7 PRODH ALDH7A1 ALDH4A1 ALDH18A1
25 multiple acyl-coa dehydrogenase deficiency 9.7 PRODH NADK2 DECR1
26 glycine encephalopathy 9.7 PRODH PNPO PLPBP ALDH7A1
27 early infantile epileptic encephalopathy 9.7 PNPO PLPBP ALDH7A1
28 hypophosphatasia, infantile 9.6 PNPO PIGV ALPL ALDH4A1
29 hyperprolinemia, type i 9.6 PRODH NADK2 DECR1 ALDH4A1
30 hyperlysinemia, type i 9.6 PRODH NADK2 DECR1 AASDH
31 pyridoxamine 5-prime-phosphate oxidase deficiency 9.2 PNPO PLPBP PIGV ALPL ALDH7A1 ALDH4A1

Graphical network of the top 20 diseases related to Hyperprolinemia, Type Ii:



Diseases related to Hyperprolinemia, Type Ii

Symptoms & Phenotypes for Hyperprolinemia, Type Ii

Human phenotypes related to Hyperprolinemia, Type Ii:

31 (show all 6)
# Description HPO Frequency HPO Source Accession
1 intellectual disability 31 HP:0001249
2 prolinuria 31 HP:0003137
3 hyperprolinemia 31 HP:0008358
4 hydroxyprolinuria 31 HP:0003080
5 hyperglycinuria 31 HP:0003108
6 seizure 31 HP:0001250

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
Laboratory Abnormalities:
aminoaciduria
prolinuria
hydroxyprolinuria
glycinuria
hyperprolinemia (10-15 times normal)
more
Neurologic Central Nervous System:
mental retardation
recurrent seizures

Clinical features from OMIM®:

239510 (Updated 20-May-2021)

Drugs & Therapeutics for Hyperprolinemia, Type Ii

Search Clinical Trials , NIH Clinical Center for Hyperprolinemia, Type Ii

Genetic Tests for Hyperprolinemia, Type Ii

Anatomical Context for Hyperprolinemia, Type Ii

MalaCards organs/tissues related to Hyperprolinemia, Type Ii:

40
Cortex, Brain, Skin

Publications for Hyperprolinemia, Type Ii

Articles related to Hyperprolinemia, Type Ii:

(show all 32)
# Title Authors PMID Year
1
Mutations in the Delta1-pyrroline 5-carboxylate dehydrogenase gene cause type II hyperprolinemia. 61 6 57
9700195 1998
2
Type II hyperprolinaemia in a pedigree of Irish travellers (nomads). 6 57
2624476 1989
3
Eukaryotic aldehyde dehydrogenase (ALDH) genes: human polymorphisms, and recommended nomenclature based on divergent evolution and chromosomal mapping. 57
10780262 1999
4
Genetic evidence for a common enzyme catalyzing the second step in the degradation of proline and hydroxyproline. 57
500817 1979
5
Type II hyperprolinemia. Delta1-pyrroline-5-carboxylic acid dehydrogenase deficiency in cultured skin fibroblasts and circulating lymphocytes. 57
956388 1976
6
Asymptomatic type II hyperprolinaemia associated with hyperglycinaemia in three sibs. 57
1200680 1975
7
Type 2 hyperprolinemia: absence of delta1-pyrroline-5-carboxylic acid dehydrogenase activity. 57
4369405 1974
8
Defective hydroxyproline metabolism in type II hyperprolinemia. 57
4851275 1974
9
Familial hyperprolinemia and mental retardation. A second metabolic type. 57
5815222 1969
10
Hyperprolinaemia type 2. 57
4972625 1968
11
Novel variants in a patient with late-onset hyperprolinemia type II: diagnostic key for status epilepticus and lactic acidosis. 61
31884946 2019
12
SAXS fingerprints of aldehyde dehydrogenase oligomers. 61
26693506 2015
13
Long-term clinical outcome, therapy and mild mitochondrial dysfunction in hyperprolinemia. 61
24173411 2014
14
Pyridoxine and pyridoxalphosphate-dependent epilepsies. 61
23622403 2013
15
Vitamin B6 dependent seizures. 61
19760909 2009
16
Effects of chronic proline administration on lipid contents of rat brain. 61
18573634 2008
17
Vitamin B6 related epilepsy during childhood. 61
18062169 2007
18
Crystal structure of Thermus thermophilus Delta1-pyrroline-5-carboxylate dehydrogenase. 54
16934832 2006
19
alpha-Tocopherol and ascorbic acid prevent memory deficits provoked by chronic hyperprolinemia in rats. 61
16214240 2006
20
Influence of proline on rat brain activities of alanine aminotransferase, aspartate aminotransferase and acid phosphatase. 61
15672540 2004
21
Type II hyperprolinemia: a case report. 61
15214748 2004
22
In vivo and in vitro effects of proline on some parameters of oxidative stress in rat brain. 61
14575890 2003
23
Proline reduces acetylcholinesterase activity in cerebral cortex of rats. 61
12603084 2003
24
Pyridoxal phosphate de-activation by pyrroline-5-carboxylic acid. Increased risk of vitamin B6 deficiency and seizures in hyperprolinemia type II. 61
11134058 2001
25
[Hyperprolinemia type II]. 61
9590014 1998
26
Proline-induced inhibition of glutamate release in hippocampal area CA1. 61
9374203 1997
27
Proline-induced potentiation of glutamate transmission. 61
9252026 1997
28
Hyperprolinemia type II: evidence of the excretion of 3-hydroxy delta 1-pyrroline 5-carboxylic acid. 61
445797 1979
29
Hyperprolinemia type II: identification of the glycine conjugate of pyrrole-2-carboxylic acid in urine. 61
837521 1977
30
Free amino acids in extracts of cultured skin fibroblasts from patients with various amino acid metabolic disorders. 61
1149313 1975
31
[Hyperprolinemia type II]. 61
4420281 1974
32
Hyperprolinemia type II. 61
4825691 1974

Variations for Hyperprolinemia, Type Ii

ClinVar genetic disease variations for Hyperprolinemia, Type Ii:

6 (show top 50) (show all 140)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 ALDH4A1 NM_003748.4(ALDH4A1):c.1560dup (p.Gly521fs) Duplication Pathogenic 4002 rs779536510 GRCh37: 1:19200975-19200976
GRCh38: 1:18874481-18874482
2 ALDH4A1 NM_003748.4(ALDH4A1):c.1055C>T (p.Ser352Leu) SNV Pathogenic 4003 rs137852937 GRCh37: 1:19203992-19203992
GRCh38: 1:18877498-18877498
3 ALDH4A1 NM_003748.4(ALDH4A1):c.1137+1G>A SNV Pathogenic 1033613 GRCh37: 1:19203909-19203909
GRCh38: 1:18877415-18877415
4 ALDH4A1 NM_003748.4(ALDH4A1):c.21del (p.Leu8fs) Deletion Likely pathogenic 4004 rs387906314 GRCh37: 1:19228997-19228997
GRCh38: 1:18902503-18902503
5 ALDH4A1 NM_003748.4(ALDH4A1):c.298-1G>C SNV Likely pathogenic 571282 rs1557620472 GRCh37: 1:19212123-19212123
GRCh38: 1:18885629-18885629
6 ALDH4A1 NM_003748.4(ALDH4A1):c.244G>A (p.Val82Met) SNV Conflicting interpretations of pathogenicity 697665 rs76762510 GRCh37: 1:19215861-19215861
GRCh38: 1:18889367-18889367
7 ALDH4A1 NM_003748.4(ALDH4A1):c.228G>A (p.Ser76=) SNV Conflicting interpretations of pathogenicity 697959 rs145686117 GRCh37: 1:19215877-19215877
GRCh38: 1:18889383-18889383
8 ALDH4A1 NM_003748.4(ALDH4A1):c.648C>T (p.Gly216=) SNV Conflicting interpretations of pathogenicity 294385 rs139340058 GRCh37: 1:19209648-19209648
GRCh38: 1:18883154-18883154
9 ALDH4A1 NM_003748.4(ALDH4A1):c.1377G>C (p.Pro459=) SNV Conflicting interpretations of pathogenicity 294370 rs146222625 GRCh37: 1:19201959-19201959
GRCh38: 1:18875465-18875465
10 ALDH4A1 NM_003748.4(ALDH4A1):c.1218C>T (p.His406=) SNV Conflicting interpretations of pathogenicity 702171 rs111291014 GRCh37: 1:19202929-19202929
GRCh38: 1:18876435-18876435
11 ALDH4A1 NM_003748.4(ALDH4A1):c.1096G>A (p.Gly366Arg) SNV Conflicting interpretations of pathogenicity 702767 rs41306567 GRCh37: 1:19203951-19203951
GRCh38: 1:18877457-18877457
12 ALDH4A1 NM_003748.4(ALDH4A1):c.135T>G (p.Pro45=) SNV Conflicting interpretations of pathogenicity 294393 rs147154947 GRCh37: 1:19216527-19216527
GRCh38: 1:18890033-18890033
13 ALDH4A1 NM_003748.4(ALDH4A1):c.1073A>G (p.His358Arg) SNV Conflicting interpretations of pathogenicity 294381 rs145243354 GRCh37: 1:19203974-19203974
GRCh38: 1:18877480-18877480
14 ALDH4A1 NM_003748.4(ALDH4A1):c.866+1G>A SNV Conflicting interpretations of pathogenicity 438800 rs78532707 GRCh37: 1:19208193-19208193
GRCh38: 1:18881699-18881699
15 ALDH4A1 NM_003748.4(ALDH4A1):c.1583C>A (p.Thr528Asn) SNV Conflicting interpretations of pathogenicity 471329 rs61757683 GRCh37: 1:19199448-19199448
GRCh38: 1:18872954-18872954
16 ALDH4A1 NM_003748.4(ALDH4A1):c.413C>T (p.Pro138Leu) SNV Conflicting interpretations of pathogenicity 294391 rs139640415 GRCh37: 1:19212007-19212007
GRCh38: 1:18885513-18885513
17 ALDH4A1 NM_003748.4(ALDH4A1):c.1098G>A (p.Gly366=) SNV Conflicting interpretations of pathogenicity 294378 rs147471420 GRCh37: 1:19203949-19203949
GRCh38: 1:18877455-18877455
18 ALDH4A1 NM_003748.4(ALDH4A1):c.1571G>A (p.Arg524Gln) SNV Conflicting interpretations of pathogenicity 813795 GRCh37: 1:19200965-19200965
GRCh38: 1:18874471-18874471
19 ALDH4A1 NM_003748.4(ALDH4A1):c.1261T>C (p.Cys421Arg) SNV Conflicting interpretations of pathogenicity 294372 rs149414160 GRCh37: 1:19202886-19202886
GRCh38: 1:18876392-18876392
20 ALDH4A1 NM_003748.4(ALDH4A1):c.678+3G>A SNV Conflicting interpretations of pathogenicity 294384 rs138788183 GRCh37: 1:19209615-19209615
GRCh38: 1:18883121-18883121
21 ALDH4A1 NM_003748.4(ALDH4A1):c.*1182G>C SNV Uncertain significance 874208 GRCh37: 1:19198157-19198157
GRCh38: 1:18871663-18871663
22 ALDH4A1 NM_003748.4(ALDH4A1):c.*19C>T SNV Uncertain significance 874262 GRCh37: 1:19199320-19199320
GRCh38: 1:18872826-18872826
23 ALDH4A1 NM_003748.4(ALDH4A1):c.1212G>A (p.Leu404=) SNV Uncertain significance 874318 GRCh37: 1:19202935-19202935
GRCh38: 1:18876441-18876441
24 ALDH4A1 NM_003748.4(ALDH4A1):c.1196G>A (p.Arg399His) SNV Uncertain significance 874319 GRCh37: 1:19202951-19202951
GRCh38: 1:18876457-18876457
25 ALDH4A1 NM_003748.4(ALDH4A1):c.1195C>T (p.Arg399Cys) SNV Uncertain significance 874320 GRCh37: 1:19202952-19202952
GRCh38: 1:18876458-18876458
26 ALDH4A1 NM_003748.4(ALDH4A1):c.1186-11G>A SNV Uncertain significance 874321 GRCh37: 1:19202972-19202972
GRCh38: 1:18876478-18876478
27 ALDH4A1 NM_003748.4(ALDH4A1):c.1185+10G>A SNV Uncertain significance 874322 GRCh37: 1:19203692-19203692
GRCh38: 1:18877198-18877198
28 ALDH4A1 NM_003748.4(ALDH4A1):c.1099C>T (p.Arg367Trp) SNV Uncertain significance 874323 GRCh37: 1:19203948-19203948
GRCh38: 1:18877454-18877454
29 ALDH4A1 NM_003748.4(ALDH4A1):c.381C>G (p.Ile127Met) SNV Uncertain significance 874376 GRCh37: 1:19212039-19212039
GRCh38: 1:18885545-18885545
30 ALDH4A1 NM_003748.4(ALDH4A1):c.362T>C (p.Ile121Thr) SNV Uncertain significance 874377 GRCh37: 1:19212058-19212058
GRCh38: 1:18885564-18885564
31 ALDH4A1 NM_003748.4(ALDH4A1):c.298-14C>T SNV Uncertain significance 874378 GRCh37: 1:19212136-19212136
GRCh38: 1:18885642-18885642
32 ALDH4A1 NM_003748.4(ALDH4A1):c.250-6T>A SNV Uncertain significance 874379 GRCh37: 1:19213011-19213011
GRCh38: 1:18886517-18886517
33 ALDH4A1 NM_003748.4(ALDH4A1):c.198C>T (p.Cys66=) SNV Uncertain significance 874380 GRCh37: 1:19215907-19215907
GRCh38: 1:18889413-18889413
34 ALDH4A1 NM_003748.4(ALDH4A1):c.*1041G>A SNV Uncertain significance 875131 GRCh37: 1:19198298-19198298
GRCh38: 1:18871804-18871804
35 ALDH4A1 NM_003748.4(ALDH4A1):c.*1040C>T SNV Uncertain significance 875132 GRCh37: 1:19198299-19198299
GRCh38: 1:18871805-18871805
36 ALDH4A1 NM_003748.4(ALDH4A1):c.1678G>A (p.Ala560Thr) SNV Uncertain significance 875189 GRCh37: 1:19199353-19199353
GRCh38: 1:18872859-18872859
37 ALDH4A1 NM_003748.4(ALDH4A1):c.1632G>A (p.Pro544=) SNV Uncertain significance 875190 GRCh37: 1:19199399-19199399
GRCh38: 1:18872905-18872905
38 ALDH4A1 NM_003748.4(ALDH4A1):c.1624A>G (p.Thr542Ala) SNV Uncertain significance 875191 GRCh37: 1:19199407-19199407
GRCh38: 1:18872913-18872913
39 ALDH4A1 NM_003748.4(ALDH4A1):c.1580-5C>T SNV Uncertain significance 875192 GRCh37: 1:19199456-19199456
GRCh38: 1:18872962-18872962
40 ALDH4A1 NM_003748.4(ALDH4A1):c.157-14G>A SNV Uncertain significance 875298 GRCh37: 1:19215962-19215962
GRCh38: 1:18889468-18889468
41 ALDH4A1 NM_003748.4(ALDH4A1):c.150G>A (p.Leu50=) SNV Uncertain significance 875299 GRCh37: 1:19216512-19216512
GRCh38: 1:18890018-18890018
42 ALDH4A1 NM_003748.4(ALDH4A1):c.*900G>C SNV Uncertain significance 876092 GRCh37: 1:19198439-19198439
GRCh38: 1:18871945-18871945
43 ALDH4A1 NM_003748.4(ALDH4A1):c.*776C>T SNV Uncertain significance 876093 GRCh37: 1:19198563-19198563
GRCh38: 1:18872069-18872069
44 ALDH4A1 NM_003748.4(ALDH4A1):c.*711C>G SNV Uncertain significance 876094 GRCh37: 1:19198628-19198628
GRCh38: 1:18872134-18872134
45 ALDH4A1 NM_003748.4(ALDH4A1):c.1460+15C>T SNV Uncertain significance 876152 GRCh37: 1:19201861-19201861
GRCh38: 1:18875367-18875367
46 ALDH4A1 NM_003748.4(ALDH4A1):c.974G>A (p.Arg325His) SNV Uncertain significance 876206 GRCh37: 1:19204073-19204073
GRCh38: 1:18877579-18877579
47 ALDH4A1 NM_003748.4(ALDH4A1):c.876A>G (p.Lys292=) SNV Uncertain significance 876207 GRCh37: 1:19205858-19205858
GRCh38: 1:18879364-18879364
48 ALDH4A1 NM_003748.4(ALDH4A1):c.740G>T (p.Arg247Leu) SNV Uncertain significance 876208 GRCh37: 1:19208320-19208320
GRCh38: 1:18881826-18881826
49 ALDH4A1 NM_003748.4(ALDH4A1):c.842G>T (p.Gly281Val) SNV Uncertain significance 846274 GRCh37: 1:19208218-19208218
GRCh38: 1:18881724-18881724
50 ALDH4A1 NM_003748.4(ALDH4A1):c.16C>T (p.Pro6Ser) SNV Uncertain significance 846391 GRCh37: 1:19229002-19229002
GRCh38: 1:18902508-18902508

UniProtKB/Swiss-Prot genetic disease variations for Hyperprolinemia, Type Ii:

72
# Symbol AA change Variation ID SNP ID
1 ALDH4A1 p.Ser352Leu VAR_002260 rs137852937

Expression for Hyperprolinemia, Type Ii

Search GEO for disease gene expression data for Hyperprolinemia, Type Ii.

Pathways for Hyperprolinemia, Type Ii

GO Terms for Hyperprolinemia, Type Ii

Cellular components related to Hyperprolinemia, Type Ii according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 mitochondrion GO:0005739 9.43 PRODH NADK2 DECR1 ALDH7A1 ALDH4A1 ALDH18A1
2 mitochondrial matrix GO:0005759 9.02 PRODH NADK2 DECR1 ALDH7A1 ALDH4A1

Biological processes related to Hyperprolinemia, Type Ii according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 proline catabolic process GO:0006562 9.32 PRODH ALDH4A1
2 4-hydroxyproline catabolic process GO:0019470 9.26 PRODH ALDH4A1
3 proline catabolic process to glutamate GO:0010133 9.16 PRODH ALDH4A1
4 oxidation-reduction process GO:0055114 9.1 PRODH PNPO DECR1 ALDH7A1 ALDH4A1 ALDH18A1
5 proline metabolic process GO:0006560 8.96 PRODH ALDH4A1

Molecular functions related to Hyperprolinemia, Type Ii according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 oxidoreductase activity GO:0016491 9.43 PRODH PNPO DECR1 ALDH7A1 ALDH4A1 ALDH18A1
2 pyridoxal phosphate binding GO:0030170 9.26 PNPO PLPBP
3 aldehyde dehydrogenase (NAD) activity GO:0004029 9.16 ALDH7A1 ALDH4A1
4 oxidoreductase activity, acting on the aldehyde or oxo group of donors, NAD or NADP as acceptor GO:0016620 8.8 ALDH7A1 ALDH4A1 ALDH18A1

Sources for Hyperprolinemia, Type Ii

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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