MCID: HYP111
MIFTS: 44

Hyperprolinemia

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

Aliases & Classifications for Hyperprolinemia

MalaCards integrated aliases for Hyperprolinemia:

Name: Hyperprolinemia 12 74 52 25 36 29 54 6 15 71
Proline Oxidase Deficiency 52 25
Pyrroline-5-Carboxylate Dehydrogenase Deficiency 25
Pyrroline Carboxylate Dehydrogenase Deficiency 25
Proline Dehydrogenase Deficiency 71
Proline Hydrogenase Deficiency 52
Hyperprolinemia Type 1 52
Hyperprolinemia Type 2 71
Prolinemia 25

Classifications:



External Ids:

Disease Ontology 12 DOID:0080541
KEGG 36 H00190
UMLS 71 C0268528 C0268529 C2931835

Summaries for Hyperprolinemia

Genetics Home Reference : 25 Hyperprolinemia is 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. There are two inherited forms of hyperprolinemia, called type I and type II. People with hyperprolinemia type I often do not show any symptoms, although they have proline levels in their blood between 3 and 10 times the normal level. Some individuals with hyperprolinemia type I exhibit seizures, intellectual disability, or other neurological or psychiatric problems. Hyperprolinemia type II results in proline levels in the blood between 10 and 15 times higher than normal, and high levels of a related compound called pyrroline-5-carboxylate. This form of the disorder has signs and symptoms that vary in severity, and is more likely than type I to involve seizures or intellectual disability. Hyperprolinemia can also occur with other conditions, such as malnutrition or liver disease. In particular, individuals with conditions that cause elevated levels of lactic acid in the blood (lactic acidemia) may have hyperprolinemia as well, because lactic acid inhibits the breakdown of proline.

MalaCards based summary : Hyperprolinemia, also known as proline oxidase deficiency, is related to hyperprolinemia, type i and hyperprolinemia, type ii, and has symptoms including seizures An important gene associated with Hyperprolinemia is PRODH (Proline Dehydrogenase 1), and among its related pathways/superpathways are Arginine and proline metabolism and Metabolism. Affiliated tissues include liver, brain and cortex, and related phenotypes are Decreased shRNA abundance (Z-score < -2) and Decreased shRNA abundance (Z-score < -2)

Disease Ontology : 12 An amno acid metabolic disorder that is characterized by the excess of proline in the blood.

NIH Rare Diseases : 52 Hyperprolinemia is when there is 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. There are two inherited forms: hyperprolinemia type 1 and hyperprolinemia type 2 . People with hyperprolinemia type I often do not show any symptoms, although they have proline levels in their blood between 3 and 10 times the normal level. Less commonly, affected individuals can experience seizures , intellectual disability , or other neurological or psychiatric problems. Hyperprolinemia is caused by mutations in the PRODH gene and is inherited in an autosomal recessive pattern.

KEGG : 36 Hyperprolinemia (HP) is a phenotype present in two distinct, autosomal recessive metabolic disorders caused by defects in the l-proline catabolic pathway. Hyperprolinemia type I (HPI) and type II (HPII) are caused by deficiencies in proline dehydrogenase (PRODH) and P5C dehydrogenase (P5CDH; also known as ALDH4A1), respectively. Patients with HPI may exhibit an increase in plasma proline level in absence of urinary pyrroline-5-carboxylate (P5C) while those with HPII have elevated levels of P5C and proline in plasma, urine, and cerebrospinal fluid. Some patients have neurological, renal, and/or auditory defects.

Wikipedia : 74 Hyperprolinemia is a condition which occurs when the amino acid proline is not broken down properly by... more...

Related Diseases for Hyperprolinemia

Diseases in the Hyperprolinemia family:

Hyperprolinemia, Type I Hyperprolinemia, Type Ii

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

(show top 50) (show all 83)
# Related Disease Score Top Affiliating Genes
1 hyperprolinemia, type i 34.0 PYCR1 PRODH DGCR6L DGCR5 ALDH4A1
2 hyperprolinemia, type ii 33.2 PYCR1 PRODH PNPO ALDH7A1 ALDH6A1 ALDH4A1
3 digeorge syndrome 30.3 PRODH DGCR6L DGCR5 COMT
4 velocardiofacial syndrome 30.1 PRODH DGCR6L DGCR5 COMT
5 substance-induced psychosis 10.4 PRODH COMT
6 autosomal recessive cutis laxa type iii 10.4 PYCR1 ALDH18A1
7 autosomal recessive cutis laxa type i 10.4 PYCR1 ALDH18A1
8 cutis laxa, autosomal recessive, type iiib 10.4 PYCR1 ALDH18A1
9 autosomal recessive disease 10.4
10 cutis laxa, autosomal recessive, type ib 10.4 PYCR1 ALDH18A1
11 cutis laxa, autosomal recessive, type iia 10.4 PYCR1 ALDH18A1
12 cutis laxa, autosomal recessive, type iiia 10.4 PYCR1 ALDH18A1
13 t-cell immunodeficiency with thymic aplasia 10.3 PRODH DGCR5
14 cutis laxa, autosomal recessive, type ic 10.3 PYCR1 ALDH18A1
15 iminoglycinuria 10.3
16 cutis laxa, autosomal recessive, type ia 10.3 PYCR1 ALDH18A1
17 chagas disease 10.3
18 amino acid metabolic disorder 10.3 PRODH DGCR5 ALDH4A1
19 mast syndrome 10.3 ALDH6A1 ALDH4A1
20 prolidase deficiency 10.3 PYCR1 PRODH
21 cutis laxa 10.3 PYCR1 PRODH ALDH18A1
22 schizophreniform disorder 10.3 PRODH COMT
23 schizophrenia 10.3
24 major affective disorder 8 10.3
25 major affective disorder 9 10.3
26 bipolar disorder 10.3
27 schizoaffective disorder 10.3
28 autosomal recessive cutis laxa type ii classic type 10.2 PYCR1 ALDH18A1
29 neu-laxova syndrome 2 10.2 PYCR1 ALDH4A1 ALDH18A1
30 phobia, specific 10.2 PRODH COMT
31 chromosomal disease 10.2 PRODH DGCR5 COMT
32 borderline glaucoma 10.2 PYCR3 PYCR1
33 chromosome 22q11.2 duplication syndrome 10.2 PRODH DGCR6L DGCR5
34 chromosomal duplication syndrome 10.2 PRODH DGCR6L DGCR5
35 hydroxyprolinemia 10.2
36 schizophrenia 4 10.2
37 status epilepticus 10.2
38 liver disease 10.2
39 specific developmental disorder 10.2 PRODH DGCR5 COMT
40 substance abuse 10.1 PRODH COMT ALDH2
41 hypophosphatasia, infantile 10.1 PNPO ALDH4A1
42 schizotypal personality disorder 10.1 PRODH COMT
43 leukodystrophy, hypomyelinating, 10 10.1 PYCR3 PYCR1
44 chromosomal deletion syndrome 10.0 PRODH DGCR6L DGCR5 COMT
45 spastic paraplegia 9b, autosomal recessive 10.0 PYCR3 PYCR1 ALDH18A1
46 spastic paraplegia 9a, autosomal dominant 10.0 PYCR3 PYCR1 ALDH18A1
47 aniridia 1 10.0
48 hyperglycinuria 10.0
49 telecanthus 10.0
50 craniosynostosis with fibular aplasia 10.0

Graphical network of the top 20 diseases related to Hyperprolinemia:



Diseases related to Hyperprolinemia

Symptoms & Phenotypes for Hyperprolinemia

UMLS symptoms related to Hyperprolinemia:


seizures

GenomeRNAi Phenotypes related to Hyperprolinemia according to GeneCards Suite gene sharing:

26 (show all 22)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased shRNA abundance (Z-score < -2) GR00366-A-136 9.64 PRODH
2 Decreased shRNA abundance (Z-score < -2) GR00366-A-139 9.64 PRODH
3 Decreased shRNA abundance (Z-score < -2) GR00366-A-148 9.64 ALDH2
4 Decreased shRNA abundance (Z-score < -2) GR00366-A-156 9.64 COMT
5 Decreased shRNA abundance (Z-score < -2) GR00366-A-173 9.64 ALDH3B1
6 Decreased shRNA abundance (Z-score < -2) GR00366-A-192 9.64 PRODH
7 Decreased shRNA abundance (Z-score < -2) GR00366-A-195 9.64 COMT
8 Decreased shRNA abundance (Z-score < -2) GR00366-A-198 9.64 PRODH
9 Decreased shRNA abundance (Z-score < -2) GR00366-A-200 9.64 PRODH
10 Decreased shRNA abundance (Z-score < -2) GR00366-A-26 9.64 COMT
11 Decreased shRNA abundance (Z-score < -2) GR00366-A-33 9.64 ALDH3B1 COMT
12 Decreased shRNA abundance (Z-score < -2) GR00366-A-4 9.64 PRODH
13 Decreased shRNA abundance (Z-score < -2) GR00366-A-5 9.64 PRODH
14 Decreased shRNA abundance (Z-score < -2) GR00366-A-50 9.64 COMT
15 Decreased shRNA abundance (Z-score < -2) GR00366-A-53 9.64 COMT
16 Decreased shRNA abundance (Z-score < -2) GR00366-A-55 9.64 PRODH
17 Decreased shRNA abundance (Z-score < -2) GR00366-A-86 9.64 ALDH3B1 PRODH
18 Decreased shRNA abundance (Z-score < -2) GR00366-A-89 9.64 COMT
19 Decreased shRNA abundance (Z-score < -2) GR00366-A-95 9.64 ALDH3B1
20 Decreased shRNA abundance GR00251-A-1 9.43 ALDH9A1
21 Decreased shRNA abundance GR00251-A-2 9.43 ALDH9A1
22 Decreased shRNA abundance GR00297-A 9.43 ALDH4A1 ALDH9A1 PYCR1 PYCR3

Drugs & Therapeutics for Hyperprolinemia

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Vitamin-D Treatment Targeted to Hyperprolinemia-Associated Schizophrenia. Withdrawn NCT02197286 Phase 2 Cholecalciferol;Placebo
2 A Study on Risk Mutations of Vulnerability Genes of Schizophrenia Unknown status NCT00155207

Search NIH Clinical Center for Hyperprolinemia

Genetic Tests for Hyperprolinemia

Genetic tests related to Hyperprolinemia:

# Genetic test Affiliating Genes
1 Hyperprolinemia 29

Anatomical Context for Hyperprolinemia

MalaCards organs/tissues related to Hyperprolinemia:

40
Liver, Brain, Cortex, Skin, Testes

Publications for Hyperprolinemia

Articles related to Hyperprolinemia:

(show top 50) (show all 142)
# Title Authors PMID Year
1
Involvement of hyperprolinemia in cognitive and psychiatric features of the 22q11 deletion syndrome. 54 61
17135275 2007
2
Hyperprolinemia is not associated with childhood onset schizophrenia. 61 54
16389584 2006
3
Hyperprolinemia is a risk factor for schizoaffective disorder. 61 54
15494707 2005
4
PRODH mutations and hyperprolinemia in a subset of schizophrenic patients. 54 61
12217952 2002
5
Novel variants in a patient with late-onset hyperprolinemia type II: diagnostic key for status epilepticus and lactic acidosis. 61
31884946 2019
6
Structural Biology of Proline Catabolic Enzymes. 61
28990412 2019
7
Proline oxidase controls proline, glutamate, and glutamine cellular concentrations in a U87 glioblastoma cell line. 61
29694413 2018
8
Structure, function, and mechanism of proline utilization A (PutA). 61
28712849 2017
9
A Genetic Analysis of the Caenorhabditis elegans Detoxification Response. 61
28428286 2017
10
Hyperprolinemia as a clue in the diagnosis of a patient with psychiatric manifestations. 61
28202261 2017
11
[Screening for amino acid metabolic disorders of newborns in Zhejiang province:prevalence, outcome and follow-up]. 61
29039163 2017
12
Selective Screening for Organic Acidurias and Amino Acidopathies in Pakistani Children. 61
28492150 2017
13
The 22q11 PRODH/DGCR6 deletion is frequent in hyperprolinemic subjects but is not a strong risk factor for ASD. 61
26978485 2016
14
Crosstalk Among Disrupted Glutamatergic and Cholinergic Homeostasis and Inflammatory Response in Mechanisms Elicited by Proline in Astrocytes. 61
25579384 2016
15
Hyperprolinemia in Type 2 Glutaric Aciduria and MADD-Like Profiles. 61
26409463 2016
16
SAXS fingerprints of aldehyde dehydrogenase oligomers. 61
26693506 2015
17
PRODH rs450046 and proline x COMT Val¹⁵⁸ Met interaction effects on intelligence and startle in adults with 22q11 deletion syndrome. 61
26068888 2015
18
Glutamatergic markers, age, intellectual functioning and psychosis in 22q11 deletion syndrome. 61
26055684 2015
19
Single amino acid polymorphism in aldehyde dehydrogenase gene superfamily. 61
25553455 2015
20
An interictal schizophrenia-like psychosis in an adult patient with 22q11.2 deletion syndrome. 61
25870791 2015
21
Hyperprolinemia induces DNA, protein and lipid damage in blood of rats: antioxidant protection. 61
24980685 2014
22
Biochemical and clinical features of hereditary hyperprolinemia. 61
24931297 2014
23
Long-term neuropsychiatric follow-up in hyperprolinemia type I. 61
24842239 2014
24
Vitamin D insufficiency and schizophrenia risk: evaluation of hyperprolinemia as a mediator of association. 61
24787057 2014
25
Long-term clinical outcome, therapy and mild mitochondrial dysfunction in hyperprolinemia. 61
24173411 2014
26
Analysis of 26 amino acids in human plasma by HPLC using AQC as derivatizing agent and its application in metabolic laboratory. 61
24515597 2014
27
Proline-induced changes in acetylcholinesterase activity and gene expression in zebrafish brain: reversal by antipsychotic drugs. 61
23867765 2013
28
Structural determinants of oligomerization of δ(1)-pyrroline-5-carboxylate dehydrogenase: identification of a hexamerization hot spot. 61
23747974 2013
29
Improving patient tolerability in immunoglobulin treatment: focus on stabilizer effects. 61
23730887 2013
30
Cytoskeleton of cortical astrocytes as a target to proline through oxidative stress mechanisms. 61
23142028 2013
31
Pyridoxine and pyridoxalphosphate-dependent epilepsies. 61
23622403 2013
32
Identification of PRODH mutations in Korean neonates with type I hyperprolinemia. 61
23462603 2013
33
Long-term proline exposure alters nucleotide catabolism and ectonucleotidase gene expression in zebrafish brain. 61
22669495 2012
34
The three-dimensional structural basis of type II hyperprolinemia. 61
22516612 2012
35
Behavioral changes induced by long-term proline exposure are reversed by antipsychotics in zebrafish. 61
22019856 2012
36
Functional specialization in proline biosynthesis of melanoma. 61
23024808 2012
37
Evidence that hyperprolinemia alters glutamatergic homeostasis in rat brain: neuroprotector effect of guanosine. 61
21935728 2012
38
Experimental hyperprolinemia induces mild oxidative stress, metabolic changes, and tissue adaptation in rat liver. 61
21882227 2012
39
Physical exercise reverses cognitive impairment in rats subjected to experimental hyperprolinemia. 61
21792675 2011
40
Evidence for association of hyperprolinemia with schizophrenia and a measure of clinical outcome. 61
21645996 2011
41
Behavioral and neurochemical effects of proline. 61
21643764 2011
42
Role of antioxidants on Na(+),K (+)-ATPase activity and gene expression in cerebral cortex of hyperprolinemic rats. 61
21509571 2011
43
Drosophila delta-1-pyrroline-5-carboxylate dehydrogenase (P5CDh) is required for proline breakdown and mitochondrial integrity-Establishing a fly model for human type II hyperprolinemia. 61
21168532 2011
44
Type I hyperprolinemia: genotype/phenotype correlations. 61
20524212 2010
45
Proline impairs energy metabolism in cerebral cortex of young rats. 61
20437088 2010
46
Human aldehyde dehydrogenase genes: alternatively spliced transcriptional variants and their suggested nomenclature. 61
19823103 2009
47
Vitamin B6 dependent seizures. 61
19760909 2009
48
Gamma glutamyl semialdehyde dehydrogenase: simulations on native and mutant forms support the importance of outer shell lysines. 61
19000660 2009
49
Effects of chronic proline administration on lipid contents of rat brain. 61
18573634 2008
50
Inborn errors of proline metabolism. 61
18806117 2008

Variations for Hyperprolinemia

ClinVar genetic disease variations for Hyperprolinemia:

6 ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 ALDH4A1 NM_001319218.1(ALDH4A1):c.-73C>TSNV Uncertain significance 294402 rs559524012 1:19229090-19229090 1:18902596-18902596
2 ALDH4A1 NM_003748.4(ALDH4A1):c.*12deldeletion Uncertain significance 294361 rs774289867 1:19199327-19199327 1:18872833-18872833
3 ALDH4A1 NM_001319218.1(ALDH4A1):c.-39G>TSNV Uncertain significance 294400 rs112566606 1:19229056-19229056 1:18902562-18902562
4 ALDH4A1 NM_001319218.1(ALDH4A1):c.-37C>ASNV Uncertain significance 294399 rs886045708 1:19229054-19229054 1:18902560-18902560
5 ALDH4A1 NM_001319218.1(ALDH4A1):c.-65G>CSNV Uncertain significance 294401 rs878956441 1:19229082-19229082 1:18902588-18902588
6 ALDH4A1 NM_001319218.1(ALDH4A1):c.-169dupduplication Uncertain significance 294403 rs551988232 1:19229185-19229186 1:18902691-18902692
7 ALDH4A1 NM_003748.4(ALDH4A1):c.*657deldeletion Likely benign 294349 rs11311839 1:19198682-19198682 1:18872188-18872188

Expression for Hyperprolinemia

Search GEO for disease gene expression data for Hyperprolinemia.

Pathways for Hyperprolinemia

Pathways related to Hyperprolinemia according to KEGG:

36
# Name Kegg Source Accession
1 Arginine and proline metabolism hsa00330

Pathways related to Hyperprolinemia according to GeneCards Suite gene sharing:

(show all 24)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.99 PYCR3 PYCR1 PRODH PNPO COMT ALDH9A1
2
Show member pathways
13.62 PYCR3 PYCR1 PRODH ALDH9A1 ALDH7A1 ALDH6A1
3
Show member pathways
12.71 ALDH9A1 ALDH3B1 ALDH3A1 ALDH2 ALDH1A3
4
Show member pathways
12.55 ALDH9A1 ALDH7A1 ALDH3B1 ALDH3A2 ALDH3A1 ALDH2
5
Show member pathways
12.4 ALDH9A1 ALDH7A1 ALDH3A2 ALDH2 ALDH1B1
6
Show member pathways
12.28 ALDH9A1 ALDH7A1 ALDH3A2 ALDH2 ALDH1B1
7
Show member pathways
12.2 PYCR3 PYCR1 ALDH6A1 ALDH18A1
8
Show member pathways
11.96 ALDH9A1 ALDH7A1 ALDH6A1 ALDH3A2 ALDH2 ALDH1B1
9
Show member pathways
11.87 PRODH ALDH7A1 ALDH4A1
10
Show member pathways
11.86 ALDH9A1 ALDH7A1 ALDH3A2 ALDH2 ALDH1B1
11 11.73 PYCR1 ALDH7A1 ALDH18A1
12 11.66 ALDH9A1 ALDH7A1 ALDH3A2 ALDH2 ALDH1B1
13 11.64 ALDH9A1 ALDH7A1 ALDH3A2 ALDH2 ALDH1B1
14
Show member pathways
11.61 COMT ALDH9A1 ALDH3B1 ALDH3A1 ALDH1B1 ALDH1A3
15
Show member pathways
11.36 PYCR3 PYCR1 ALDH18A1
16
Show member pathways
11.34 ALDH9A1 ALDH7A1 ALDH3A2 ALDH2 ALDH1B1
17
Show member pathways
11.29 ALDH9A1 ALDH7A1 ALDH3B1 ALDH3A2 ALDH3A1 ALDH2
18
Show member pathways
11.14 ALDH9A1 ALDH7A1 ALDH6A1 ALDH3B1 ALDH3A2 ALDH3A1
19
Show member pathways
11.09 PYCR3 PYCR1 ALDH18A1
20
Show member pathways
11.08 PYCR3 PYCR1 PRODH ALDH9A1 ALDH7A1 ALDH4A1
21
Show member pathways
11.01 COMT ALDH2
22
Show member pathways
10.8 COMT ALDH2
23
Show member pathways
10.8 ALDH3B1 ALDH3A1 ALDH2
24 10.17 PYCR1 ALDH7A1

GO Terms for Hyperprolinemia

Cellular components related to Hyperprolinemia according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 mitochondrion GO:0005739 9.56 PYCR1 PRODH ALDH7A1 ALDH6A1 ALDH4A1 ALDH2
2 mitochondrial matrix GO:0005759 9.17 PYCR1 PRODH ALDH7A1 ALDH6A1 ALDH4A1 ALDH2

Biological processes related to Hyperprolinemia according to GeneCards Suite gene sharing:

(show all 12)
# Name GO ID Score Top Affiliating Genes
1 cellular amino acid biosynthetic process GO:0008652 9.63 PYCR3 PYCR1 ALDH18A1
2 ethanol oxidation GO:0006069 9.51 ALDH2 ALDH1B1
3 ethanol catabolic process GO:0006068 9.5 ALDH3B1 ALDH2 ALDH1B1
4 oxidation-reduction process GO:0055114 9.5 PYCR3 PYCR1 PRODH PNPO ALDH9A1 ALDH7A1
5 alcohol metabolic process GO:0006066 9.49 ALDH3B1 ALDH2
6 proline catabolic process GO:0006562 9.48 PRODH ALDH4A1
7 4-hydroxyproline catabolic process GO:0019470 9.43 PRODH ALDH4A1
8 L-proline biosynthetic process GO:0055129 9.43 PYCR3 PYCR1 ALDH18A1
9 proline catabolic process to glutamate GO:0010133 9.4 PRODH ALDH4A1
10 proline metabolic process GO:0006560 9.37 PRODH ALDH4A1
11 cellular aldehyde metabolic process GO:0006081 9.35 ALDH9A1 ALDH7A1 ALDH3B1 ALDH3A2 ALDH3A1
12 proline biosynthetic process GO:0006561 9.33 PYCR3 PYCR1 ALDH18A1

Molecular functions related to Hyperprolinemia according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 aldehyde dehydrogenase (NAD) activity GO:0004029 9.81 ALDH9A1 ALDH7A1 ALDH4A1 ALDH3B1 ALDH3A2 ALDH3A1
2 oxidoreductase activity, acting on the aldehyde or oxo group of donors, NAD or NADP as acceptor GO:0016620 9.7 ALDH9A1 ALDH7A1 ALDH6A1 ALDH4A1 ALDH3B1 ALDH3A2
3 glyceraldehyde-3-phosphate dehydrogenase (NAD+) (non-phosphorylating) activity GO:0043878 9.65 ALDH9A1 ALDH7A1 ALDH3A2 ALDH2 ALDH1B1
4 aldehyde dehydrogenase [NAD(P)+] activity GO:0004030 9.62 ALDH3B1 ALDH3A1 ALDH2 ALDH1A3
5 3-chloroallyl aldehyde dehydrogenase activity GO:0004028 9.54 ALDH3B1 ALDH3A2 ALDH3A1
6 oxidoreductase activity GO:0016491 9.5 PYCR3 PYCR1 PRODH PNPO ALDH9A1 ALDH7A1
7 pyrroline-5-carboxylate reductase activity GO:0004735 9.43 PYCR3 PYCR1
8 benzaldehyde dehydrogenase (NAD+) activity GO:0018479 9.4 ALDH3B1 ALDH3A1

Sources for Hyperprolinemia

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
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
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
Content
Loading form....