UPB1D
MCID: BTR002
MIFTS: 40

Beta-Ureidopropionase Deficiency (UPB1D)

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

Aliases & Classifications for Beta-Ureidopropionase Deficiency

MalaCards integrated aliases for Beta-Ureidopropionase Deficiency:

Name: Beta-Ureidopropionase Deficiency 57 43 58 72 36 13 39 70
Deficiency of Beta-Ureidopropionase 43 29 6
Beta-Alanine Synthase Deficiency 43 58
Upb1d 57 72

Characteristics:

Orphanet epidemiological data:

58
beta-ureidopropionase deficiency
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

OMIM®:

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

Miscellaneous:
onset in infancy
six genetically confirmed patients have been reported (as of december 2009)
inborn error of the pyrimidine degradation pathway


HPO:

31
beta-ureidopropionase deficiency:
Inheritance autosomal recessive inheritance
Onset and clinical course infantile onset


Classifications:

Orphanet: 58  
Rare neurological diseases
Inborn errors of metabolism


External Ids:

OMIM® 57 613161
KEGG 36 H00200
MeSH 44 D011686
ICD10 via Orphanet 33 E79.8
UMLS via Orphanet 71 C1291512
Orphanet 58 ORPHA65287
MedGen 41 C1291512
UMLS 70 C1291512

Summaries for Beta-Ureidopropionase Deficiency

MedlinePlus Genetics : 43 Beta-ureidopropionase deficiency is a disorder that causes excessive amounts of molecules called N-carbamyl-beta-aminoisobutyric acid and N-carbamyl-beta-alanine to be released in the urine. Neurological problems ranging from mild to severe also occur in some affected individuals.People with beta-ureidopropionase deficiency can have low muscle tone (hypotonia), seizures, speech difficulties, developmental delay, intellectual disability, and autistic behaviors that affect communication and social interaction. Some people with this condition have an abnormally small head size (microcephaly); they may also have brain abnormalities that can be seen with medical imaging. Deterioration of the optic nerve, which carries visual information from the eyes to the brain, can lead to vision loss in this condition.In some people with beta-ureidopropionase deficiency, the disease causes no neurological problems and can only be diagnosed by laboratory testing.

MalaCards based summary : Beta-Ureidopropionase Deficiency, also known as deficiency of beta-ureidopropionase, is related to beta-aminoisobutyric aciduria and hypotonia. An important gene associated with Beta-Ureidopropionase Deficiency is UPB1 (Beta-Ureidopropionase 1), and among its related pathways/superpathways are Pyrimidine metabolism and Drug metabolism - other enzymes. Affiliated tissues include colon, appendix and liver, and related phenotypes are intellectual disability and scoliosis

OMIM® : 57 Beta-ureidopropionase deficiency is a rare autosomal recessive inborn error of metabolism due to a defect in pyrimidine degradation. Less than 10 patients have been reported, and the phenotype can range from severe neurologic involvement with mental retardation and seizures to normal neurologic development (Yaplito-Lee et al., 2008). (613161) (Updated 20-May-2021)

KEGG : 36 Deficiency of beta-ureidopropionase which catalyzes the biosynthesis of beta-alanine and the last step in pyrimidine degradation is an autosomal recessive condition associated with neurological and developmental problems.

UniProtKB/Swiss-Prot : 72 Beta-ureidopropionase deficiency: An inborn error of metabolism due to a defect in pyrimidine degradation. It is characterized by muscular hypotonia, dystonic movements, scoliosis, microcephaly and severe developmental delay. Patients show strongly elevated levels of N-carbamyl-beta-alanine and N-carbamyl-beta-aminoisobutyric acid in plasma, cerebrospinal fluid and urine.

Related Diseases for Beta-Ureidopropionase Deficiency

Diseases related to Beta-Ureidopropionase Deficiency via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 11)
# Related Disease Score Top Affiliating Genes
1 beta-aminoisobutyric aciduria 10.2
2 hypotonia 10.2
3 3-methylglutaconic aciduria, type iii 10.1
4 west syndrome 10.1
5 cerebellar hypoplasia 10.1
6 partial optic atrophy 10.1
7 status epilepticus 10.1
8 inherited metabolic disorder 10.1
9 dihydropyrimidine dehydrogenase deficiency 9.5 DPYS DPYD
10 pyrimidine metabolic disorder 9.3 UPB1 DPYS DPYD
11 dihydropyrimidinase deficiency 9.2 UPB1 DPYS DPYD

Graphical network of the top 20 diseases related to Beta-Ureidopropionase Deficiency:



Diseases related to Beta-Ureidopropionase Deficiency

Symptoms & Phenotypes for Beta-Ureidopropionase Deficiency

Human phenotypes related to Beta-Ureidopropionase Deficiency:

31 (show all 13)
# Description HPO Frequency HPO Source Accession
1 intellectual disability 31 very rare (1%) HP:0001249
2 scoliosis 31 very rare (1%) HP:0002650
3 microcephaly 31 very rare (1%) HP:0000252
4 anal atresia 31 very rare (1%) HP:0002023
5 bifid scrotum 31 very rare (1%) HP:0000048
6 status epilepticus 31 very rare (1%) HP:0002133
7 hypsarrhythmia 31 very rare (1%) HP:0002521
8 neurological speech impairment 31 HP:0002167
9 global developmental delay 31 HP:0001263
10 neonatal hypotonia 31 HP:0001319
11 dystonia 31 HP:0001332
12 bladder exstrophy 31 HP:0002836
13 delayed cns myelination 31 HP:0002188

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
Neurologic Central Nervous System:
hypotonia, neonatal
delayed psychomotor development, severe (in 2 of 6 patients)
mental retardation (in 2 of 6 patients)
normal development (in 2 of 6 patients)
seizures (in 2 of 6 patients)
more
Abdomen Gastrointestinal:
anal atresia (in 1 of 6 patients)
duplicated appendix and distal colon (in 1 of 6 patients)

Genitourinary Kidneys:
pelvicalyceal dilatation (in 1 of 6 patients)

Genitourinary Bladder:
bladder exstrophy (in 1 of 6 patients)

Laboratory Abnormalities:
increased urinary dihydropyrimidines
increased urinary, plasma, and csf n-carbamyl-beta-alanine
increased urinary, plasma, and csf n-carbamyl-beta-aminoisobutyric acid
increased urinary, plasma, and csf dihydrouracil
increased urinary, plasma, and csf dihydrothymine
more
Head And Neck Head:
microcephaly (in 1 of 6 patients)

Genitourinary External Genitalia Male:
bifid phallus (in 1 of 6 patients)
bifid scrotum (in 1 of 6 patients)

Genitourinary Ureters:
ureteric dilatation (in 1 of 6 patients)

Skeletal Spine:
scoliosis (in 1 of 6 patients)

Clinical features from OMIM®:

613161 (Updated 20-May-2021)

GenomeRNAi Phenotypes related to Beta-Ureidopropionase Deficiency according to GeneCards Suite gene sharing:

26 (show all 11)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased shRNA abundance (Z-score < -2) GR00366-A-11 9.4 DPYD
2 Decreased shRNA abundance (Z-score < -2) GR00366-A-131 9.4 DPYD
3 Decreased shRNA abundance (Z-score < -2) GR00366-A-148 9.4 DPYS
4 Decreased shRNA abundance (Z-score < -2) GR00366-A-177 9.4 DPYS
5 Decreased shRNA abundance (Z-score < -2) GR00366-A-184 9.4 DPYD
6 Decreased shRNA abundance (Z-score < -2) GR00366-A-204 9.4 DPYS
7 Decreased shRNA abundance (Z-score < -2) GR00366-A-43 9.4 DPYS
8 Decreased shRNA abundance (Z-score < -2) GR00366-A-63 9.4 DPYS
9 Decreased shRNA abundance (Z-score < -2) GR00366-A-81 9.4 DPYS
10 Decreased shRNA abundance (Z-score < -2) GR00366-A-84 9.4 DPYS
11 Decreased shRNA abundance (Z-score < -2) GR00366-A-91 9.4 DPYD DPYS

Drugs & Therapeutics for Beta-Ureidopropionase Deficiency

Search Clinical Trials , NIH Clinical Center for Beta-Ureidopropionase Deficiency

Genetic Tests for Beta-Ureidopropionase Deficiency

Genetic tests related to Beta-Ureidopropionase Deficiency:

# Genetic test Affiliating Genes
1 Deficiency of Beta-Ureidopropionase 29 UPB1

Anatomical Context for Beta-Ureidopropionase Deficiency

MalaCards organs/tissues related to Beta-Ureidopropionase Deficiency:

40
Colon, Appendix, Liver

Publications for Beta-Ureidopropionase Deficiency

Articles related to Beta-Ureidopropionase Deficiency:

(show all 14)
# Title Authors PMID Year
1
Beta-ureidopropionase deficiency presenting with congenital anomalies of the urogenital and colorectal systems. 6 57 61
17964839 2008
2
beta-Ureidopropionase deficiency: an inborn error of pyrimidine degradation associated with neurological abnormalities. 61 6 57
15385443 2004
3
ß-ureidopropionase deficiency: phenotype, genotype and protein structural consequences in 16 patients. 6
22525402 2012
4
NMR-based urinalysis for rapid diagnosis of β-ureidopropionase deficiency in a patient with Dravet syndrome. 61
25445412 2015
5
Five cases of beta-ureidopropionase deficiency detected by GC/MS analysis of urine metabolome. 61
18853477 2009
6
Noninvasive human metabolome analysis for differential diagnosis of inborn errors of metabolism. 61
17467347 2007
7
Clinical findings and a therapeutic trial in the first patient with beta-ureidopropionase deficiency. 61
16541364 2006
8
Beta-ureidopropionase deficiency presenting with febrile status epilepticus. 61
16417553 2006
9
Genetic analysis of the first 4 patients with beta-ureidopropionase deficiency. 61
17065070 2006
10
Diagnosis and monitoring of inborn errors of metabolism using urease-pretreatment of urine, isotope dilution, and gas chromatography-mass spectrometry. 61
12450676 2002
11
Screening and diagnosis of beta-ureidopropionase deficiency by gas chromatographic/mass spectrometric analysis of urine. 61
12271438 2002
12
Detection of beta-ureidopropionase deficiency with HPLC-electrospray tandem mass spectrometry and confirmation of the defect at the enzyme level. 61
11804209 2001
13
beta-Ureidopropionase deficiency: a novel inborn error of metabolism discovered using NMR spectroscopy on urine. 61
11675655 2001
14
Confirmation of the enzyme defect in the first case of beta-ureidopropionase deficiency. Beta-alanine deficiency. 61
11783492 2000

Variations for Beta-Ureidopropionase Deficiency

ClinVar genetic disease variations for Beta-Ureidopropionase Deficiency:

6 (show top 50) (show all 69)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 UPB1 NM_016327.3(UPB1):c.917-2A>G SNV Pathogenic 4148 rs876657373 GRCh37: 22:24919585-24919585
GRCh38: 22:24523617-24523617
2 UPB1 NM_016327.3(UPB1):c.807del (p.Ile270fs) Deletion Pathogenic 1028018 GRCh37: 22:24916368-24916368
GRCh38: 22:24520400-24520400
3 UPB1 NM_016327.3(UPB1):c.873+1G>A SNV Pathogenic 280025 rs747539101 GRCh37: 22:24916437-24916437
GRCh38: 22:24520469-24520469
4 UPB1 NM_016327.3(UPB1):c.105-2A>G SNV Conflicting interpretations of pathogenicity 4147 rs138081800 GRCh37: 22:24896073-24896073
GRCh38: 22:24500105-24500105
5 UPB1 NM_016327.3(UPB1):c.977G>A (p.Arg326Gln) SNV Conflicting interpretations of pathogenicity 225511 rs118163237 GRCh37: 22:24919647-24919647
GRCh38: 22:24523679-24523679
6 UPB1 NM_016327.3(UPB1):c.917-1G>A SNV Conflicting interpretations of pathogenicity 445946 rs143493067 GRCh37: 22:24919586-24919586
GRCh38: 22:24523618-24523618
7 UPB1 NM_016327.3(UPB1):c.91G>A (p.Gly31Ser) SNV Uncertain significance 445652 rs200145797 GRCh37: 22:24891462-24891462
GRCh38: 22:24495494-24495494
8 UPB1 NM_016327.3(UPB1):c.792C>A (p.Ser264Arg) SNV Uncertain significance 631886 rs145766755 GRCh37: 22:24916355-24916355
GRCh38: 22:24520387-24520387
9 UPB1 NM_016327.3(UPB1):c.*23G>A SNV Uncertain significance 340939 rs201029672 GRCh37: 22:24921785-24921785
GRCh38: 22:24525817-24525817
10 UPB1 NM_016327.3(UPB1):c.*505A>G SNV Uncertain significance 340942 rs769797838 GRCh37: 22:24922267-24922267
GRCh38: 22:24526299-24526299
11 UPB1 NM_016327.3(UPB1):c.354G>A (p.Gln118=) SNV Uncertain significance 340931 rs770091394 GRCh37: 22:24898171-24898171
GRCh38: 22:24502203-24502203
12 UPB1 NM_016327.3(UPB1):c.26T>C (p.Leu9Pro) SNV Uncertain significance 340928 rs755104394 GRCh37: 22:24891397-24891397
GRCh38: 22:24495429-24495429
13 UPB1 NM_016327.3(UPB1):c.*652A>T SNV Uncertain significance 340945 rs763554233 GRCh37: 22:24922414-24922414
GRCh38: 22:24526446-24526446
14 UPB1 NM_016327.3(UPB1):c.296G>A (p.Arg99His) SNV Uncertain significance 340930 rs750057554 GRCh37: 22:24898113-24898113
GRCh38: 22:24502145-24502145
15 UPB1 NM_016327.3(UPB1):c.*619C>T SNV Uncertain significance 340944 rs151216546 GRCh37: 22:24922381-24922381
GRCh38: 22:24526413-24526413
16 UPB1 NM_016327.3(UPB1):c.-27G>C SNV Uncertain significance 340925 rs780314131 GRCh37: 22:24891345-24891345
GRCh38: 22:24495377-24495377
17 UPB1 NM_016327.3(UPB1):c.*398G>C SNV Uncertain significance 340941 rs145006667 GRCh37: 22:24922160-24922160
GRCh38: 22:24526192-24526192
18 UPB1 NM_016327.3(UPB1):c.464C>T (p.Ala155Val) SNV Uncertain significance 340933 rs199788632 GRCh37: 22:24909296-24909296
GRCh38: 22:24513328-24513328
19 UPB1 NM_016327.3(UPB1):c.-65T>C SNV Uncertain significance 340923 rs886057288 GRCh37: 22:24891307-24891307
GRCh38: 22:24495339-24495339
20 UPB1 NM_016327.3(UPB1):c.254C>A (p.Ala85Glu) SNV Uncertain significance 4149 rs34035085 GRCh37: 22:24896224-24896224
GRCh38: 22:24500256-24500256
21 UPB1 NM_016327.3(UPB1):c.209G>C (p.Arg70Pro) SNV Uncertain significance 4150 rs121908066 GRCh37: 22:24896179-24896179
GRCh38: 22:24500211-24500211
22 UPB1 NM_016327.3(UPB1):c.514G>A (p.Glu172Lys) SNV Uncertain significance 340934 rs145749836 GRCh37: 22:24909346-24909346
GRCh38: 22:24513378-24513378
23 UPB1 NM_016327.3(UPB1):c.889G>A (p.Glu297Lys) SNV Uncertain significance 340935 rs764280358 GRCh37: 22:24917969-24917969
GRCh38: 22:24522001-24522001
24 UPB1 NM_016327.3(UPB1):c.1026C>T (p.Leu342=) SNV Uncertain significance 340937 rs201859426 GRCh37: 22:24919696-24919696
GRCh38: 22:24523728-24523728
25 UPB1 NM_016327.3(UPB1):c.*548_*551AAGT[1] Microsatellite Uncertain significance 340943 rs886057290 GRCh37: 22:24922309-24922312
GRCh38: 22:24526341-24526344
26 UPB1 NM_016327.3(UPB1):c.-11G>A SNV Uncertain significance 340926 rs541169952 GRCh37: 22:24891361-24891361
GRCh38: 22:24495393-24495393
27 UPB1 NM_016327.3(UPB1):c.384T>C (p.Cys128=) SNV Uncertain significance 340932 rs200161281 GRCh37: 22:24906736-24906736
GRCh38: 22:24510768-24510768
28 UPB1 NM_016327.3(UPB1):c.142T>C (p.Ser48Pro) SNV Uncertain significance 340929 rs373573512 GRCh37: 22:24896112-24896112
GRCh38: 22:24500144-24500144
29 UPB1 NM_016327.3(UPB1):c.899C>T (p.Ser300Leu) SNV Uncertain significance 340936 rs762081192 GRCh37: 22:24917979-24917979
GRCh38: 22:24522011-24522011
30 UPB1 NM_016327.3(UPB1):c.1099C>G (p.Arg367Gly) SNV Uncertain significance 548558 rs542324398 GRCh37: 22:24921706-24921706
GRCh38: 22:24525738-24525738
31 UPB1 NM_016327.3(UPB1):c.1027G>A (p.Asp343Asn) SNV Uncertain significance 902356 GRCh37: 22:24919697-24919697
GRCh38: 22:24523729-24523729
32 UPB1 NM_016327.3(UPB1):c.1071+10C>T SNV Uncertain significance 902357 GRCh37: 22:24919751-24919751
GRCh38: 22:24523783-24523783
33 UPB1 NM_016327.3(UPB1):c.387G>A (p.Thr129=) SNV Uncertain significance 899538 GRCh37: 22:24906739-24906739
GRCh38: 22:24510771-24510771
34 UPB1 NM_016327.3(UPB1):c.676G>A (p.Gly226Arg) SNV Uncertain significance 899539 GRCh37: 22:24911223-24911223
GRCh38: 22:24515255-24515255
35 UPB1 NM_016327.3(UPB1):c.684C>T (p.Ile228=) SNV Uncertain significance 899540 GRCh37: 22:24911231-24911231
GRCh38: 22:24515263-24515263
36 UPB1 NM_016327.3(UPB1):c.*549A>C SNV Uncertain significance 899616 GRCh37: 22:24922311-24922311
GRCh38: 22:24526343-24526343
37 UPB1 NC_000022.11:g.24495325C>T SNV Uncertain significance 900607 GRCh37: 22:24891293-24891293
GRCh38: 22:24495325-24495325
38 UPB1 NM_016327.3(UPB1):c.792C>T (p.Ser264=) SNV Uncertain significance 900674 GRCh37: 22:24916355-24916355
GRCh38: 22:24520387-24520387
39 UPB1 NM_016327.3(UPB1):c.822C>T (p.Asn274=) SNV Uncertain significance 900675 GRCh37: 22:24916385-24916385
GRCh38: 22:24520417-24520417
40 UPB1 NM_016327.3(UPB1):c.903A>G (p.Gly301=) SNV Uncertain significance 900676 GRCh37: 22:24917983-24917983
GRCh38: 22:24522015-24522015
41 UPB1 NM_016327.3(UPB1):c.-61C>T SNV Uncertain significance 902289 GRCh37: 22:24891311-24891311
GRCh38: 22:24495343-24495343
42 UPB1 NM_016327.3(UPB1):c.54G>A (p.Pro18=) SNV Uncertain significance 902290 GRCh37: 22:24891425-24891425
GRCh38: 22:24495457-24495457
43 UPB1 NM_016327.3(UPB1):c.1092G>A (p.Met364Ile) SNV Uncertain significance 902358 GRCh37: 22:24921699-24921699
GRCh38: 22:24525731-24525731
44 UPB1 NM_016327.3(UPB1):c.358G>T (p.Ala120Ser) SNV Uncertain significance 973470 GRCh37: 22:24898175-24898175
GRCh38: 22:24502207-24502207
45 UPB1 NM_016327.3(UPB1):c.38T>C (p.Leu13Ser) SNV Uncertain significance 1028017 GRCh37: 22:24891409-24891409
GRCh38: 22:24495441-24495441
46 UPB1 NM_016327.3(UPB1):c.203G>A (p.Arg68Gln) SNV Uncertain significance 903158 GRCh37: 22:24896173-24896173
GRCh38: 22:24500205-24500205
47 UPB1 NM_016327.3(UPB1):c.225G>T (p.Gly75=) SNV Uncertain significance 903159 GRCh37: 22:24896195-24896195
GRCh38: 22:24500227-24500227
48 UPB1 NM_016327.3(UPB1):c.310G>A (p.Val104Ile) SNV Uncertain significance 903160 GRCh37: 22:24898127-24898127
GRCh38: 22:24502159-24502159
49 UPB1 NM_016327.3(UPB1):c.*10G>A SNV Uncertain significance 903220 GRCh37: 22:24921772-24921772
GRCh38: 22:24525804-24525804
50 UPB1 NM_016327.3(UPB1):c.*93A>G SNV Uncertain significance 903221 GRCh37: 22:24921855-24921855
GRCh38: 22:24525887-24525887

UniProtKB/Swiss-Prot genetic disease variations for Beta-Ureidopropionase Deficiency:

72
# Symbol AA change Variation ID SNP ID
1 UPB1 p.Ala85Glu VAR_026752 rs34035085
2 UPB1 p.Leu13Ser VAR_081207 rs200688546
3 UPB1 p.Gly235Arg VAR_081208 rs766196011
4 UPB1 p.Arg236Trp VAR_081209 rs144135211
5 UPB1 p.Ser264Arg VAR_081210
6 UPB1 p.Glu271Lys VAR_081211 rs747454154
7 UPB1 p.Arg326Gln VAR_081213 rs118163237
8 UPB1 p.Thr359Met VAR_081214 rs369879221

Expression for Beta-Ureidopropionase Deficiency

Search GEO for disease gene expression data for Beta-Ureidopropionase Deficiency.

Pathways for Beta-Ureidopropionase Deficiency

Pathways related to Beta-Ureidopropionase Deficiency according to KEGG:

36
# Name Kegg Source Accession
1 Pyrimidine metabolism hsa00240
2 Drug metabolism - other enzymes hsa00983

Pathways related to Beta-Ureidopropionase Deficiency according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.28 UPB1 DPYS DPYD
2
Show member pathways
12.17 UPB1 DPYS DPYD
3
Show member pathways
11.31 UPB1 DPYS DPYD
4
Show member pathways
10.85 UPB1 DPYS DPYD
5 10.45 UPB1 DPYS DPYD
6
Show member pathways
10.05 UPB1 DPYS DPYD

GO Terms for Beta-Ureidopropionase Deficiency

Biological processes related to Beta-Ureidopropionase Deficiency according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 pyrimidine nucleobase catabolic process GO:0006208 9.4 DPYS DPYD
2 thymine catabolic process GO:0006210 9.37 DPYS DPYD
3 pyrimidine nucleoside catabolic process GO:0046135 9.33 UPB1 DPYS DPYD
4 beta-alanine biosynthetic process GO:0019483 9.32 UPB1 DPYD
5 uracil catabolic process GO:0006212 9.26 DPYS DPYD
6 dUMP catabolic process GO:0046079 9.13 UPB1 DPYS DPYD
7 UMP catabolic process GO:0046050 8.8 UPB1 DPYS DPYD

Molecular functions related to Beta-Ureidopropionase Deficiency according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 uracil binding GO:0002058 8.62 DPYS DPYD

Sources for Beta-Ureidopropionase Deficiency

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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