DCBXA
MCID: DCR008
MIFTS: 42

Dicarboxylic Aminoaciduria (DCBXA)

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

Aliases & Classifications for Dicarboxylic Aminoaciduria

MalaCards integrated aliases for Dicarboxylic Aminoaciduria:

Name: Dicarboxylic Aminoaciduria 57 12 20 58 72 36 29 6 15 39
Glutamate-Aspartate Transport Defect 57 12 20 58 72
Dicarboxylicaminoaciduria 73 20 44 70
Renal Aminoacidurias 44 70
Dcbxa 57 72
Renal Aminoaciduria 17

Characteristics:

Orphanet epidemiological data:

58
dicarboxylic aminoaciduria
Age of onset: Infancy,Neonatal;

OMIM®:

57 (Updated 05-Apr-2021)
Inheritance:
autosomal recessive


HPO:

31
dicarboxylic aminoaciduria:
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 58  
Inborn errors of metabolism


External Ids:

Disease Ontology 12 DOID:0060650
OMIM® 57 222730
KEGG 36 H00911
SNOMED-CT 67 716747007
MESH via Orphanet 45 C536171
ICD10 via Orphanet 33 E72.0
UMLS via Orphanet 71 C1857253
Orphanet 58 ORPHA2195
MedGen 41 C1857253
UMLS 70 C0002534 C1857253

Summaries for Dicarboxylic Aminoaciduria

KEGG : 36 Dicarboxylic aminoaciduria (DA) is an autosomal recessive disorder characterized by a striking excretion of urinary glutamate and aspartate, resulting from the incomplete reabsorption of anionic amino acids from the glomerular filtrate in the kidney. DA is generally considered to be a benign disorder, but cases with mental retardation have been reported as well. Homozygous loss-of-function mutations in SLC1A1 could be associated with DA.

MalaCards based summary : Dicarboxylic Aminoaciduria, also known as glutamate-aspartate transport defect, is related to aminoaciduria and obsessive-compulsive disorder. An important gene associated with Dicarboxylic Aminoaciduria is SLC1A1 (Solute Carrier Family 1 Member 1), and among its related pathways/superpathways are Protein digestion and absorption and Glutamatergic synapse. Affiliated tissues include kidney, and related phenotypes are nephrolithiasis and aspartic aciduria

Disease Ontology : 12 An amino acid metabolic disorder that is characterised by an excess urinary excretion of aspartate and glutamate acidic amino acids.

GARD : 20 Dicarboxylic aminoaciduria is a rare metabolic disorder characterized by the excessive loss of aspartate and glutamate in urine. Symptoms have varied greatly among the few reported cases. Dicarboxylic aminoaciduria is caused by mutations in the SLC1A1 gene. It is inherited in an autosomal recessive fashion.

UniProtKB/Swiss-Prot : 72 Dicarboxylic aminoaciduria: An autosomal recessive disorder characterized by abnormal excretion of urinary glutamate and aspartate, resulting from the incomplete reabsorption of anionic amino acids from the glomerular filtrate in the kidney. It can be associated with mental retardation.

Wikipedia : 73 Dicarboxylic aminoaciduria is a rare form of aminoaciduria (1:35 000 births) which is an autosomal... more...

More information from OMIM: 222730

Related Diseases for Dicarboxylic Aminoaciduria

Graphical network of the top 20 diseases related to Dicarboxylic Aminoaciduria:



Diseases related to Dicarboxylic Aminoaciduria

Symptoms & Phenotypes for Dicarboxylic Aminoaciduria

Human phenotypes related to Dicarboxylic Aminoaciduria:

31
# Description HPO Frequency HPO Source Accession
1 nephrolithiasis 31 very rare (1%) HP:0000787
2 aspartic aciduria 31 very rare (1%) HP:0032401
3 intellectual disability 31 HP:0001249
4 aminoaciduria 31 HP:0003355
5 fasting hypoglycemia 31 HP:0003162

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Laboratory Abnormalities:
aspartic aciduria
dicarboxylic aminoaciduria
glutamic aciduria

Neurologic Behavioral Psychiatric Manifestations:
obsessive compulsive disorder

Genitourinary Kidneys:
kidney stones

Clinical features from OMIM®:

222730 (Updated 05-Apr-2021)

GenomeRNAi Phenotypes related to Dicarboxylic Aminoaciduria according to GeneCards Suite gene sharing:

26 (show all 19)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Increased shRNA abundance (Z-score > 2) GR00366-A-108 9.64 SLC35A4
2 Increased shRNA abundance (Z-score > 2) GR00366-A-109 9.64 SLC35A4
3 Increased shRNA abundance (Z-score > 2) GR00366-A-122 9.64 SLC35A4
4 Increased shRNA abundance (Z-score > 2) GR00366-A-13 9.64 PRODH
5 Increased shRNA abundance (Z-score > 2) GR00366-A-148 9.64 PRODH
6 Increased shRNA abundance (Z-score > 2) GR00366-A-177 9.64 SLC10A5
7 Increased shRNA abundance (Z-score > 2) GR00366-A-182 9.64 SLC10A5
8 Increased shRNA abundance (Z-score > 2) GR00366-A-2 9.64 PRODH
9 Increased shRNA abundance (Z-score > 2) GR00366-A-21 9.64 SLC35A4
10 Increased shRNA abundance (Z-score > 2) GR00366-A-215 9.64 SLC10A5
11 Increased shRNA abundance (Z-score > 2) GR00366-A-23 9.64 PRODH
12 Increased shRNA abundance (Z-score > 2) GR00366-A-28 9.64 SLC10A5
13 Increased shRNA abundance (Z-score > 2) GR00366-A-33 9.64 PRODH
14 Increased shRNA abundance (Z-score > 2) GR00366-A-58 9.64 PRODH
15 Increased shRNA abundance (Z-score > 2) GR00366-A-66 9.64 PRODH
16 Increased shRNA abundance (Z-score > 2) GR00366-A-70 9.64 PRODH SLC10A5 SLC35A4
17 Increased shRNA abundance (Z-score > 2) GR00366-A-88 9.64 SLC10A5
18 Increased shRNA abundance (Z-score > 2) GR00366-A-9 9.64 PRODH
19 Increased shRNA abundance (Z-score > 2) GR00366-A-99 9.64 PRODH

Drugs & Therapeutics for Dicarboxylic Aminoaciduria

Search Clinical Trials , NIH Clinical Center for Dicarboxylic Aminoaciduria

Cochrane evidence based reviews: renal aminoacidurias

Genetic Tests for Dicarboxylic Aminoaciduria

Genetic tests related to Dicarboxylic Aminoaciduria:

# Genetic test Affiliating Genes
1 Dicarboxylic Aminoaciduria 29 SLC1A1

Anatomical Context for Dicarboxylic Aminoaciduria

MalaCards organs/tissues related to Dicarboxylic Aminoaciduria:

40
Kidney

Publications for Dicarboxylic Aminoaciduria

Articles related to Dicarboxylic Aminoaciduria:

(show all 14)
# Title Authors PMID Year
1
Loss-of-function mutations in the glutamate transporter SLC1A1 cause human dicarboxylic aminoaciduria. 57 6 61
21123949 2011
2
Glutamate transporter EAAC-1-deficient mice develop dicarboxylic aminoaciduria and behavioral abnormalities but no neurodegeneration. 57 61
9233792 1997
3
Dicarboxylic aminoaciduria associated with mental retardation. 61 57
2567279 1989
4
Dicarboxylic aminoaciduria: an inborn error of amino acid conservation. 57 61
894411 1977
5
Dicarboxylic aminoaciduria: an inborn error of glutamate and aspartate transport with metabolic implications, in combination with a hyperprolinemia. 61 57
4810805 1974
6
Amino Acid Transport Across the Mammalian Intestine. 61
30549024 2018
7
Aminoacidurias: Clinical and molecular aspects. 61
18200002 2008
8
Apical transporters for neutral amino acids: physiology and pathophysiology. 61
18400692 2008
9
Amino acid transport across mammalian intestinal and renal epithelia. 61
18195088 2008
10
Amino acid disorders in mental retardation: a two-decade study from Andhra Pradesh. 61
15168722 2004
11
Assignment of the gene coding for the human high-affinity glutamate transporter EAAC1 to 9p24: potential role in dicarboxylic aminoaciduria and neurodegenerative disorders. 61
8020993 1994
12
Dicarboxylic aminoaciduria. 61
7707705 1994
13
Dicarboxylic amino acid uptake in normal, Friedreich's ataxia, and dicarboxylic aminoaciduria fibroblasts. 61
487320 1979
14
[Proceedings: Dicarboxylic aminoaciduria: a new metabolic disease involving the transport of glutamic and aspartic acids]. 61
1214317 1975

Variations for Dicarboxylic Aminoaciduria

ClinVar genetic disease variations for Dicarboxylic Aminoaciduria:

6 (show top 50) (show all 121)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 SLC1A1 , SPATA6L NM_004170.6(SLC1A1):c.1333C>T (p.Arg445Trp) SNV Pathogenic 155859 rs587777696 GRCh37: 9:4585316-4585316
GRCh38: 9:4585316-4585316
2 SLC1A1 , SPATA6L NM_004170.6(SLC1A1):c.1181_1183TCA[1] (p.Ile395del) Microsatellite Pathogenic 155860 rs587777697 GRCh37: 9:4576750-4576752
GRCh38: 9:4576750-4576752
3 SLC1A1 , SPATA6L NM_004170.6(SLC1A1):c.*1076A>C SNV Uncertain significance 367081 rs886063975 GRCh37: 9:4586634-4586634
GRCh38: 9:4586634-4586634
4 SLC1A1 , SPATA6L NM_004170.6(SLC1A1):c.1521C>A (p.Gly507=) SNV Uncertain significance 367061 rs748205874 GRCh37: 9:4585504-4585504
GRCh38: 9:4585504-4585504
5 SLC1A1 , SPATA6L NM_004170.6(SLC1A1):c.*948G>A SNV Uncertain significance 367078 rs138843378 GRCh37: 9:4586506-4586506
GRCh38: 9:4586506-4586506
6 SLC1A1 , SPATA6L NM_004170.6(SLC1A1):c.311T>C (p.Ile104Thr) SNV Uncertain significance 367041 rs147832850 GRCh37: 9:4561527-4561527
GRCh38: 9:4561527-4561527
7 SLC1A1 , SPATA6L NM_004170.6(SLC1A1):c.1254C>G (p.Thr418=) SNV Uncertain significance 367058 rs886063965 GRCh37: 9:4583098-4583098
GRCh38: 9:4583098-4583098
8 SLC1A1 , SPATA6L NM_004170.6(SLC1A1):c.*111G>T SNV Uncertain significance 367064 rs886063966 GRCh37: 9:4585669-4585669
GRCh38: 9:4585669-4585669
9 SLC1A1 , SPATA6L NM_004170.6(SLC1A1):c.893T>C (p.Ile298Thr) SNV Uncertain significance 367050 rs376139002 GRCh37: 9:4576018-4576018
GRCh38: 9:4576018-4576018
10 SLC1A1 , SPATA6L NM_004170.6(SLC1A1):c.633C>T (p.Asn211=) SNV Uncertain significance 367047 rs143022823 GRCh37: 9:4572254-4572254
GRCh38: 9:4572254-4572254
11 SLC1A1 , SPATA6L NM_004170.6(SLC1A1):c.*1374T>C SNV Uncertain significance 367087 rs886063977 GRCh37: 9:4586932-4586932
GRCh38: 9:4586932-4586932
12 SLC1A1 , SPATA6L NM_004170.6(SLC1A1):c.441-5A>C SNV Uncertain significance 367044 rs774710357 GRCh37: 9:4566042-4566042
GRCh38: 9:4566042-4566042
13 SLC1A1 , SPATA6L NM_004170.6(SLC1A1):c.*614T>C SNV Uncertain significance 367070 rs886063970 GRCh37: 9:4586172-4586172
GRCh38: 9:4586172-4586172
14 SLC1A1 , SPATA6L NM_004170.6(SLC1A1):c.120A>G (p.Glu40=) SNV Uncertain significance 367036 rs749298509 GRCh37: 9:4544595-4544595
GRCh38: 9:4544595-4544595
15 SLC1A1 , SPATA6L NM_004170.6(SLC1A1):c.*726G>A SNV Uncertain significance 367076 rs573900670 GRCh37: 9:4586284-4586284
GRCh38: 9:4586284-4586284
16 SLC1A1 , SPATA6L NM_004170.6(SLC1A1):c.*1621T>G SNV Uncertain significance 367093 rs886063980 GRCh37: 9:4587179-4587179
GRCh38: 9:4587179-4587179
17 SLC1A1 , SPATA6L NM_004170.6(SLC1A1):c.*987T>C SNV Uncertain significance 367079 rs886063973 GRCh37: 9:4586545-4586545
GRCh38: 9:4586545-4586545
18 SLC1A1 , SPATA6L NM_004170.6(SLC1A1):c.1227T>C (p.Ala409=) SNV Uncertain significance 367056 rs147404292 GRCh37: 9:4583071-4583071
GRCh38: 9:4583071-4583071
19 SLC1A1 , SPATA6L NM_004170.6(SLC1A1):c.*657_*658AT[11] Microsatellite Uncertain significance 367073 rs3038452 GRCh37: 9:4586213-4586214
GRCh38: 9:4586213-4586214
20 SLC1A1 , SPATA6L NM_004170.6(SLC1A1):c.1150T>C (p.Leu384=) SNV Uncertain significance 367053 rs751848390 GRCh37: 9:4576720-4576720
GRCh38: 9:4576720-4576720
21 SLC1A1 , SPATA6L NM_004170.6(SLC1A1):c.*161G>A SNV Uncertain significance 367065 rs886063967 GRCh37: 9:4585719-4585719
GRCh38: 9:4585719-4585719
22 SLC1A1 , SPATA6L NM_004170.6(SLC1A1):c.*1100T>C SNV Uncertain significance 367082 rs886063976 GRCh37: 9:4586658-4586658
GRCh38: 9:4586658-4586658
23 SLC1A1 , SPATA6L NM_004170.6(SLC1A1):c.520G>A (p.Asp174Asn) SNV Uncertain significance 367045 rs754854560 GRCh37: 9:4567705-4567705
GRCh38: 9:4567705-4567705
24 SLC1A1 , SPATA6L NM_004170.6(SLC1A1):c.*2G>A SNV Uncertain significance 367062 rs148981203 GRCh37: 9:4585560-4585560
GRCh38: 9:4585560-4585560
25 SLC1A1 , SPATA6L NM_004170.6(SLC1A1):c.1087G>A (p.Ala363Thr) SNV Uncertain significance 367051 rs757336485 GRCh37: 9:4576657-4576657
GRCh38: 9:4576657-4576657
26 SLC1A1 , SPATA6L NM_004170.6(SLC1A1):c.*1597T>C SNV Uncertain significance 367091 rs886063979 GRCh37: 9:4587155-4587155
GRCh38: 9:4587155-4587155
27 SLC1A1 , SPATA6L NM_004170.6(SLC1A1):c.812T>C (p.Ile271Thr) SNV Uncertain significance 367048 rs771833630 GRCh37: 9:4573951-4573951
GRCh38: 9:4573951-4573951
28 SLC1A1 , SPATA6L NM_004170.6(SLC1A1):c.1398C>T (p.Ser466=) SNV Uncertain significance 367059 rs141295405 GRCh37: 9:4585381-4585381
GRCh38: 9:4585381-4585381
29 SLC1A1 , SPATA6L NM_004170.6(SLC1A1):c.*1344T>G SNV Uncertain significance 367085 rs761981396 GRCh37: 9:4586902-4586902
GRCh38: 9:4586902-4586902
30 SLC1A1 , SPATA6L NM_004170.6(SLC1A1):c.*1485A>G SNV Uncertain significance 367088 rs886063978 GRCh37: 9:4587043-4587043
GRCh38: 9:4587043-4587043
31 SLC1A1 , SPATA6L NM_004170.6(SLC1A1):c.*675A>G SNV Uncertain significance 367074 rs886063971 GRCh37: 9:4586233-4586233
GRCh38: 9:4586233-4586233
32 SLC1A1 , SPATA6L NM_004170.6(SLC1A1):c.*425T>C SNV Uncertain significance 367068 rs886063968 GRCh37: 9:4585983-4585983
GRCh38: 9:4585983-4585983
33 SLC1A1 , SPATA6L NM_004170.6(SLC1A1):c.*629C>T SNV Uncertain significance 367071 rs550214254 GRCh37: 9:4586187-4586187
GRCh38: 9:4586187-4586187
34 SLC1A1 , SPATA6L NM_004170.6(SLC1A1):c.*1063A>G SNV Uncertain significance 367080 rs886063974 GRCh37: 9:4586621-4586621
GRCh38: 9:4586621-4586621
35 SLC1A1 , SPATA6L NM_004170.6(SLC1A1):c.1483G>A (p.Glu495Lys) SNV Uncertain significance 367060 rs764152210 GRCh37: 9:4585466-4585466
GRCh38: 9:4585466-4585466
36 SLC1A1 , SPATA6L NM_004170.6(SLC1A1):c.*887T>C SNV Uncertain significance 367077 rs182923521 GRCh37: 9:4586445-4586445
GRCh38: 9:4586445-4586445
37 SLC1A1 , SPATA6L NM_004170.6(SLC1A1):c.1231G>A (p.Val411Met) SNV Uncertain significance 367057 rs199813988 GRCh37: 9:4583075-4583075
GRCh38: 9:4583075-4583075
38 SLC1A1 , SPATA6L NM_004170.6(SLC1A1):c.123C>T (p.His41=) SNV Uncertain significance 367037 rs142272329 GRCh37: 9:4544598-4544598
GRCh38: 9:4544598-4544598
39 SLC1A1 , SPATA6L NM_004170.6(SLC1A1):c.*43C>T SNV Uncertain significance 367063 rs758475672 GRCh37: 9:4585601-4585601
GRCh38: 9:4585601-4585601
40 SLC1A1 NM_004170.6(SLC1A1):c.-185G>C SNV Uncertain significance 367029 rs542813803 GRCh37: 9:4490495-4490495
GRCh38: 9:4490495-4490495
41 SLC1A1 , SPATA6L NM_004170.6(SLC1A1):c.*1545T>A SNV Uncertain significance 367089 rs570678801 GRCh37: 9:4587103-4587103
GRCh38: 9:4587103-4587103
42 SLC1A1 , SPATA6L NM_004170.6(SLC1A1):c.*438T>C SNV Uncertain significance 367069 rs886063969 GRCh37: 9:4585996-4585996
GRCh38: 9:4585996-4585996
43 SLC1A1 , SPATA6L NM_004170.6(SLC1A1):c.1194-1G>C SNV Uncertain significance 632543 rs1443633162 GRCh37: 9:4583037-4583037
GRCh38: 9:4583037-4583037
44 SLC1A1 NM_004170.6(SLC1A1):c.73G>C (p.Val25Leu) SNV Uncertain significance 912330 GRCh37: 9:4490752-4490752
GRCh38: 9:4490752-4490752
45 SLC1A1 , SPATA6L NM_004170.6(SLC1A1):c.472T>G (p.Cys158Gly) SNV Uncertain significance 912379 GRCh37: 9:4566078-4566078
GRCh38: 9:4566078-4566078
46 SLC1A1 , SPATA6L NM_004170.6(SLC1A1):c.484-12T>A SNV Uncertain significance 912380 GRCh37: 9:4567657-4567657
GRCh38: 9:4567657-4567657
47 SLC1A1 , SPATA6L NM_004170.6(SLC1A1):c.497G>A (p.Arg166His) SNV Uncertain significance 912381 GRCh37: 9:4567682-4567682
GRCh38: 9:4567682-4567682
48 SLC1A1 , SPATA6L NM_004170.6(SLC1A1):c.519C>T (p.Ser173=) SNV Uncertain significance 912382 GRCh37: 9:4567704-4567704
GRCh38: 9:4567704-4567704
49 SLC1A1 , SPATA6L NM_004170.6(SLC1A1):c.1302C>A (p.Thr434=) SNV Uncertain significance 912435 GRCh37: 9:4583146-4583146
GRCh38: 9:4583146-4583146
50 SLC1A1 , SPATA6L NM_004170.6(SLC1A1):c.1346T>C (p.Met449Thr) SNV Uncertain significance 912436 GRCh37: 9:4585329-4585329
GRCh38: 9:4585329-4585329

UniProtKB/Swiss-Prot genetic disease variations for Dicarboxylic Aminoaciduria:

72
# Symbol AA change Variation ID SNP ID
1 SLC1A1 p.Arg445Trp VAR_071954 rs587777696

Expression for Dicarboxylic Aminoaciduria

Search GEO for disease gene expression data for Dicarboxylic Aminoaciduria.

Pathways for Dicarboxylic Aminoaciduria

Pathways related to Dicarboxylic Aminoaciduria according to KEGG:

36
# Name Kegg Source Accession
1 Protein digestion and absorption hsa04974
2 Glutamatergic synapse hsa04724

GO Terms for Dicarboxylic Aminoaciduria

Cellular components related to Dicarboxylic Aminoaciduria according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 membrane GO:0016020 9.91 SLITRK5 SLC7A14 SLC6A17 SLC49A3 SLC35E1 SLC35D2
2 integral component of membrane GO:0016021 9.55 SLITRK5 SLC7A14 SLC6A17 SLC49A3 SLC35E1 SLC35D2
3 presynapse GO:0098793 9.43 SLC6A17 SLC1A7 SLC1A1
4 integral component of Golgi membrane GO:0030173 9.33 SLC35B1 SLC35A5 SLC35A4

Biological processes related to Dicarboxylic Aminoaciduria according to GeneCards Suite gene sharing:

(show all 12)
# Name GO ID Score Top Affiliating Genes
1 ion transport GO:0006811 9.89 SLC1A7 SLC1A6 SLC1A1 SLC10A5 SLC10A4
2 amino acid transport GO:0006865 9.58 SLC7A14 SLC1A6 SLC1A1
3 bile acid and bile salt transport GO:0015721 9.51 SLC10A5 SLC10A4
4 glutamate secretion GO:0014047 9.5 SLC1A7 SLC1A6 SLC1A1
5 neurotransmitter uptake GO:0001504 9.48 SLC1A7 SLC1A6
6 L-glutamate import across plasma membrane GO:0098712 9.46 SLC1A6 SLC1A1
7 L-aspartate transmembrane transport GO:0070778 9.43 SLC1A6 SLC1A1
8 pyrimidine nucleotide-sugar transmembrane transport GO:0090481 9.37 SLC35A5 SLC35A4
9 transmembrane transport GO:0055085 9.36 SLC7A14 SLC49A3 SLC35E1 SLC35D2 SLC35B1 SLC1A7
10 L-glutamate transmembrane transport GO:0015813 9.33 SLC1A7 SLC1A6 SLC1A1
11 UDP-glucose transmembrane transport GO:0015786 9.26 SLC35C2 SLC35B1
12 carbohydrate transport GO:0008643 9.26 SLC35D2 SLC35B1 SLC35A5 SLC35A4

Molecular functions related to Dicarboxylic Aminoaciduria according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 transmembrane transporter activity GO:0022857 9.71 SLC7A14 SLC49A3 SLC35B1 SLC15A5
2 antiporter activity GO:0015297 9.54 SLC35E1 SLC35D2 SLC35C2
3 L-aspartate transmembrane transporter activity GO:0015183 9.43 SLC1A6 SLC1A1
4 pyrimidine nucleotide-sugar transmembrane transporter activity GO:0015165 9.32 SLC35A5 SLC35A4
5 bile acid:sodium symporter activity GO:0008508 9.26 SLC10A5 SLC10A4
6 symporter activity GO:0015293 9.17 SLC6A17 SLC1A7 SLC1A6 SLC1A1 SLC15A5 SLC10A5
7 high-affinity glutamate transmembrane transporter activity GO:0005314 9.16 SLC1A6 SLC1A1
8 L-glutamate transmembrane transporter activity GO:0005313 9.13 SLC1A7 SLC1A6 SLC1A1

Sources for Dicarboxylic Aminoaciduria

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 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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