MCID: MLY001
MIFTS: 39

Molybdenum Cofactor Deficiency

Categories: Rare diseases, Metabolic diseases

Aliases & Classifications for Molybdenum Cofactor Deficiency

MalaCards integrated aliases for Molybdenum Cofactor Deficiency:

Name: Molybdenum Cofactor Deficiency 12 76 53 25 55
Combined Molybdoflavoprotein Enzyme Deficiency 25 29 6 73
Mocod 12 53 25
Combined Deficiency of Sulfite Oxidase, Xanthine Dehydrogenase, and Aldehyde Oxidase 53 25
Combined Deficiency of Sulfite Oxidase, Xanthine Dehydrogenase and Aldehyde Oxidase 12
Combined Xanthine Oxidase and Sulfite Oxidase and Aldehyde Oxidase Deficiency 25
Deficiency of Molybdenum Cofactor 25

Classifications:



External Ids:

Disease Ontology 12 DOID:0111165
ICD10 33 E72.1
UMLS 73 C0268119

Summaries for Molybdenum Cofactor Deficiency

Genetics Home Reference : 25 Molybdenum cofactor deficiency is a rare condition characterized by brain dysfunction (encephalopathy) that worsens over time. Babies with this condition appear normal at birth, but within a week they have difficulty feeding and develop seizures that do not improve with treatment (intractable seizures). Brain abnormalities, including deterioration (atrophy) of brain tissue, lead to severe developmental delay; affected individuals usually do not learn to sit unassisted or to speak. A small percentage of affected individuals have an exaggerated startle reaction (hyperekplexia) to unexpected stimuli such as loud noises. Other features of molybdenum cofactor deficiency can include a small head size (microcephaly) and facial features that are described as "coarse."

MalaCards based summary : Molybdenum Cofactor Deficiency, also known as combined molybdoflavoprotein enzyme deficiency, is related to molybdenum cofactor deficiency, complementation group b and molybdenum cofactor deficiency, complementation group c. An important gene associated with Molybdenum Cofactor Deficiency is MOCS1 (Molybdenum Cofactor Synthesis 1), and among its related pathways/superpathways are Metabolism and Purine metabolism (REACTOME). The drugs Molybdenum and Micronutrients have been mentioned in the context of this disorder. Affiliated tissues include brain and testes.

Disease Ontology : 12 A metal metabolism disease characterized by encephalopathy that worsens over time resulting from the absence of molybdenum cofactor which leads to accumulation of toxic levels of sulphite and neurological damage.

Wikipedia : 76 Molybdenum cofactor deficiency is a rare human disease in which the absence of molybdenum cofactor leads... more...

Related Diseases for Molybdenum Cofactor Deficiency

Graphical network of the top 20 diseases related to Molybdenum Cofactor Deficiency:



Diseases related to Molybdenum Cofactor Deficiency

Symptoms & Phenotypes for Molybdenum Cofactor Deficiency

Drugs & Therapeutics for Molybdenum Cofactor Deficiency

Drugs for Molybdenum Cofactor Deficiency (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):


# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Molybdenum Approved Phase 2, Phase 3,Phase 1 7439-98-7 185498
2 Micronutrients Phase 2, Phase 3,Phase 1
3 Trace Elements Phase 2, Phase 3,Phase 1

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Study of ALXN1101 in Neonates With Molybdenum Cofactor Deficiency (MOCD) Type A Active, not recruiting NCT02629393 Phase 2, Phase 3 ALXN1101
2 Safety & Efficacy Study of ALXN1101 in Pediatric Patients With MoCD Type A Currently Treated With rcPMP Active, not recruiting NCT02047461 Phase 2 ALXN1101
3 Study of cPMP (Precusor Z) to Treat Molybdenum Cofactor Deficiency (MoCD) Type A Withdrawn NCT00957749 Phase 1, Phase 2 cPMP
4 Phase 1 Single Dose Study of ALXN1101 in Healthy Volunteers Completed NCT01894165 Phase 1 ALXN1101;Placebo
5 A Retrospective, Observational, Noninterventional Data Collection Study for Patients With Molybdenum Cofactor Deficiency Who Have Been Previously Treated With Cyclic Pyranopterin Monophosphate (cPMP) Completed NCT01640717
6 A Natural History Study of Molybdenum Cofactor and Isolated Sulfite Oxidase Deficiencies Completed NCT01735188

Search NIH Clinical Center for Molybdenum Cofactor Deficiency

Genetic Tests for Molybdenum Cofactor Deficiency

Genetic tests related to Molybdenum Cofactor Deficiency:

# Genetic test Affiliating Genes
1 Combined Molybdoflavoprotein Enzyme Deficiency 29

Anatomical Context for Molybdenum Cofactor Deficiency

MalaCards organs/tissues related to Molybdenum Cofactor Deficiency:

41
Brain, Testes

Publications for Molybdenum Cofactor Deficiency

Articles related to Molybdenum Cofactor Deficiency:

(show top 50) (show all 100)
# Title Authors Year
1
A mild case of molybdenum cofactor deficiency defines an alternative route of MOCS1 protein maturation. ( 29368224 )
2018
2
Novel Imaging Finding and Novel Mutation in an Infant with Molybdenum Cofactor Deficiency, a Mimicker of Hypoxic-Ischaemic Encephalopathy. ( 29696052 )
2018
3
Molybdenum cofactor deficiency type A: Prenatal monitoring using MRI. ( 29274890 )
2017
4
S-sulfocysteine/NMDA receptor-dependent signaling underlies neurodegeneration in molybdenum cofactor deficiency. ( 29106383 )
2017
5
Critical appraisal of genotype assessment in molybdenum cofactor deficiency. ( 28900816 )
2017
6
Molybdenum cofactor deficiency: Identification of a patient with homozygote mutation in the MOCS3 gene. ( 28544736 )
2017
7
Molybdenum cofactor deficiency causes translucent integument, male-biased lethality, and flaccid paralysis in the silkworm Bombyx mori. ( 27041280 )
2016
8
Mouse model for molybdenum cofactor deficiency type B recapitulates the phenotype observed in molybdenum cofactor deficient patients. ( 27138983 )
2016
9
Molybdenum cofactor deficiency. ( 26653176 )
2016
10
Investigation of molybdenum cofactor deficiency due to MOCS2 deficiency in a newborn baby. ( 25709896 )
2015
11
Efficacy and safety of cyclic pyranopterin monophosphate substitution in severe molybdenum cofactor deficiency type A: a prospective cohort study. ( 26343839 )
2015
12
Ultra-orphan diseases: a quantitative analysis of the natural history of molybdenum cofactor deficiency. ( 25764214 )
2015
13
Child Neurology: Molybdenum cofactor deficiency. ( 26644055 )
2015
14
Treatments for rare diseases: molybdenum cofactor deficiency. ( 26343841 )
2015
15
Early features in neuroimaging of two siblings with molybdenum cofactor deficiency. ( 24379235 )
2014
16
Choice of anesthesia in molybdenum cofactor deficiency: A case report. ( 25657759 )
2014
17
Molybdenum cofactor deficiency presenting with a parkinsonism-dystonia syndrome. ( 23436702 )
2013
18
Molybdenum cofactor deficiency: review of 12 cases (MoCD and review). ( 23122324 )
2013
19
Molybdenum cofactor deficiency: metabolic link between taurine and S-sulfocysteine. ( 23392866 )
2013
20
Distinctive pattern of restricted diffusion in a neonate with molybdenum cofactor deficiency. ( 23250031 )
2013
21
Urinary AASA excretion is elevated in patients with molybdenum cofactor deficiency and isolated sulphite oxidase deficiency. ( 22403017 )
2012
22
Molybdenum cofactor deficiency: a new HPLC method for fast quantification of s-sulfocysteine in urine and serum. ( 23430915 )
2012
23
Molybdenum cofactor deficiency mimics cerebral palsy: differentiating factors for diagnosis. ( 22759696 )
2012
24
The association of molybdenum cofactor deficiency and pyloric stenosis. ( 23128059 )
2012
25
Pyridoxine-dependent epilepsy with elevated urinary I+-amino adipic semialdehyde in molybdenum cofactor deficiency. ( 23147983 )
2012
26
Clinical neuroimaging features and outcome in molybdenum cofactor deficiency. ( 21907887 )
2011
27
A GPHN point mutation leading to molybdenum cofactor deficiency. ( 22040219 )
2011
28
Timing of cerebral developmental disruption in molybdenum cofactor deficiency. ( 21775622 )
2011
29
Prenatal brain disruption in molybdenum cofactor deficiency. ( 21285035 )
2011
30
Molybdenum cofactor deficiency: Mutations in GPHN, MOCS1, and MOCS2. ( 21031595 )
2011
31
Maternal uniparental isodisomy is responsible for serious molybdenum cofactor deficiency. ( 20573177 )
2010
32
Successful treatment of molybdenum cofactor deficiency type A with cPMP. ( 20385644 )
2010
33
Chronological changes of the amplitude-integrated EEG in a neonate with molybdenum cofactor deficiency. ( 20865336 )
2010
34
Newborn with neonatal form of molybdenum cofactor deficiency - the first patient in the Slovak Republic. ( 21187823 )
2010
35
AAV-mediated gene therapy for metabolic diseases: dosage and reapplication studies in the molybdenum cofactor deficiency model. ( 19538746 )
2009
36
An unusual genetic variant in the MOCS1 gene leads to complete missplicing of an alternatively spliced exon in a patient with molybdenum cofactor deficiency. ( 19544009 )
2009
37
Molybdenum cofactor deficiency in a Malaysian child. ( 19907877 )
2009
38
Crystal structure of a molybdopterin synthase-precursor Z complex: insight into its sulfur transfer mechanism and its role in molybdenum cofactor deficiency. ( 18092812 )
2008
39
Molybdenum cofactor deficiency: clinical features in a Turkish patient. ( 17158010 )
2007
40
Cranial ultrasound and chronological changes in molybdenum cofactor deficiency. ( 17704913 )
2007
41
Long-term rescue of a lethal inherited disease by adeno-associated virus-mediated gene transfer in a mouse model of molybdenum-cofactor deficiency. ( 17236133 )
2007
42
A Turkish case with molybdenum cofactor deficiency. ( 17065069 )
2006
43
Molybdenum cofactor deficiency presenting with severe metabolic acidosis and intracranial hemorrhage. ( 15794186 )
2005
44
The pathogenesis of molybdenum cofactor deficiency, its delay by maternal clearance, and its expression pattern in microarray analysis. ( 15862276 )
2005
45
Molybdenum cofactor deficiency presenting as neonatal hyperekplexia: a clinical, biochemical and genetic study. ( 16429380 )
2005
46
Crystal structure of the S-adenosylmethionine-dependent enzyme MoaA and its implications for molybdenum cofactor deficiency in humans. ( 15317939 )
2004
47
Rescue of lethal molybdenum cofactor deficiency by a biosynthetic precursor from Escherichia coli. ( 15115759 )
2004
48
Prenatal diagnosis of molybdenum cofactor deficiency and isolated sulfite oxidase deficiency. ( 12533804 )
2003
49
Hypohomocysteinaemia and highly increased proportion of S-sulfonated plasma transthyretin in molybdenum cofactor deficiency. ( 12872846 )
2003
50
Mechanistic studies of human molybdopterin synthase reaction and characterization of mutants identified in group B patients of molybdenum cofactor deficiency. ( 12732628 )
2003

Variations for Molybdenum Cofactor Deficiency

ClinVar genetic disease variations for Molybdenum Cofactor Deficiency:

6
(show top 50) (show all 256)
# Gene Variation Type Significance SNP ID Assembly Location
1 MOCS1 NM_005943.5(MOCS1): c.853G> A (p.Glu285Lys) single nucleotide variant Uncertain significance rs140243105 GRCh37 Chromosome 6, 39880653: 39880653
2 MOCS1 NM_005943.5(MOCS1): c.853G> A (p.Glu285Lys) single nucleotide variant Uncertain significance rs140243105 GRCh38 Chromosome 6, 39912909: 39912909
3 ITGA2; MOCS2 NM_002203.3(ITGA2): c.*721A> C single nucleotide variant Benign rs1109527 GRCh37 Chromosome 5, 52387150: 52387150
4 ITGA2; MOCS2 NM_002203.3(ITGA2): c.*721A> C single nucleotide variant Benign rs1109527 GRCh38 Chromosome 5, 53091320: 53091320
5 ITGA2; MOCS2 NM_002203.3(ITGA2): c.*894C> T single nucleotide variant Benign rs1109526 GRCh37 Chromosome 5, 52387323: 52387323
6 ITGA2; MOCS2 NM_002203.3(ITGA2): c.*894C> T single nucleotide variant Benign rs1109526 GRCh38 Chromosome 5, 53091493: 53091493
7 ITGA2; MOCS2 NM_002203.3(ITGA2): c.*2570C> A single nucleotide variant Likely benign rs1900182 GRCh38 Chromosome 5, 53093169: 53093169
8 ITGA2; MOCS2 NM_002203.3(ITGA2): c.*2570C> A single nucleotide variant Likely benign rs1900182 GRCh37 Chromosome 5, 52388999: 52388999
9 ITGA2; MOCS2 NM_002203.3(ITGA2): c.*2570C> T single nucleotide variant Benign/Likely benign rs1900182 GRCh38 Chromosome 5, 53093169: 53093169
10 ITGA2; MOCS2 NM_002203.3(ITGA2): c.*2570C> T single nucleotide variant Benign/Likely benign rs1900182 GRCh37 Chromosome 5, 52388999: 52388999
11 ITGA2; MOCS2 NM_002203.3(ITGA2): c.*2574C> G single nucleotide variant Benign/Likely benign rs75427194 GRCh38 Chromosome 5, 53093173: 53093173
12 ITGA2; MOCS2 NM_002203.3(ITGA2): c.*2574C> G single nucleotide variant Benign/Likely benign rs75427194 GRCh37 Chromosome 5, 52389003: 52389003
13 ITGA2; MOCS2 NM_002203.3(ITGA2): c.*2940G> A single nucleotide variant Benign rs6898333 GRCh38 Chromosome 5, 53093539: 53093539
14 ITGA2; MOCS2 NM_002203.3(ITGA2): c.*2940G> A single nucleotide variant Benign rs6898333 GRCh37 Chromosome 5, 52389369: 52389369
15 ITGA2; MOCS2 NM_002203.3(ITGA2): c.*3026A> G single nucleotide variant Benign rs7719848 GRCh37 Chromosome 5, 52389455: 52389455
16 ITGA2; MOCS2 NM_002203.3(ITGA2): c.*3026A> G single nucleotide variant Benign rs7719848 GRCh38 Chromosome 5, 53093625: 53093625
17 ITGA2; MOCS2 NM_002203.3(ITGA2): c.*3164G> A single nucleotide variant Benign/Likely benign rs7737412 GRCh37 Chromosome 5, 52389593: 52389593
18 ITGA2; MOCS2 NM_002203.3(ITGA2): c.*3164G> A single nucleotide variant Benign/Likely benign rs7737412 GRCh38 Chromosome 5, 53093763: 53093763
19 ITGA2; MOCS2 NM_002203.3(ITGA2): c.*3986A> C single nucleotide variant Benign rs7725246 GRCh37 Chromosome 5, 52390415: 52390415
20 ITGA2; MOCS2 NM_002203.3(ITGA2): c.*3986A> C single nucleotide variant Benign rs7725246 GRCh38 Chromosome 5, 53094585: 53094585
21 ITGA2; MOCS2 NM_002203.3(ITGA2): c.*4098C> G single nucleotide variant Benign/Likely benign rs10471830 GRCh38 Chromosome 5, 53094697: 53094697
22 ITGA2; MOCS2 NM_002203.3(ITGA2): c.*4098C> G single nucleotide variant Benign/Likely benign rs10471830 GRCh37 Chromosome 5, 52390527: 52390527
23 MOCS2 NM_176806.3(MOCS2): c.*181C> T single nucleotide variant Uncertain significance rs777565219 GRCh37 Chromosome 5, 52397305: 52397305
24 MOCS2 NM_176806.3(MOCS2): c.*181C> T single nucleotide variant Uncertain significance rs777565219 GRCh38 Chromosome 5, 53101475: 53101475
25 MOCS2 NM_176806.3(MOCS2): c.*19-8_*19-5delATTT deletion Uncertain significance rs779872271 GRCh37 Chromosome 5, 52398059: 52398062
26 MOCS2 NM_176806.3(MOCS2): c.*19-8_*19-5delATTT deletion Uncertain significance rs779872271 GRCh38 Chromosome 5, 53102229: 53102232
27 MOCS2 NM_176806.3(MOCS2): c.7C> T (p.Pro3Ser) single nucleotide variant Uncertain significance rs886060696 GRCh37 Chromosome 5, 52405553: 52405553
28 MOCS2 NM_176806.3(MOCS2): c.7C> T (p.Pro3Ser) single nucleotide variant Uncertain significance rs886060696 GRCh38 Chromosome 5, 53109723: 53109723
29 ITGA2; MOCS2 NM_002203.3(ITGA2): c.*760_*761insTTAT insertion Benign/Likely benign rs3212652 GRCh37 Chromosome 5, 52387189: 52387190
30 ITGA2; MOCS2 NM_002203.3(ITGA2): c.*760_*761insTTAT insertion Benign/Likely benign rs3212652 GRCh38 Chromosome 5, 53091359: 53091360
31 ITGA2; MOCS2 NM_002203.3(ITGA2): c.*1252G> A single nucleotide variant Benign/Likely benign rs1042324 GRCh37 Chromosome 5, 52387681: 52387681
32 ITGA2; MOCS2 NM_002203.3(ITGA2): c.*1252G> A single nucleotide variant Benign/Likely benign rs1042324 GRCh38 Chromosome 5, 53091851: 53091851
33 ITGA2; MOCS2 NM_002203.3(ITGA2): c.*2517_*2520delCAAA deletion Benign/Likely benign rs72277253 GRCh37 Chromosome 5, 52388946: 52388949
34 ITGA2; MOCS2 NM_002203.3(ITGA2): c.*2517_*2520delCAAA deletion Benign/Likely benign rs72277253 GRCh38 Chromosome 5, 53093116: 53093119
35 ITGA2; MOCS2 NM_002203.3(ITGA2): c.*3385_*3386insGAAA insertion Benign rs59915734 GRCh37 Chromosome 5, 52389814: 52389815
36 ITGA2; MOCS2 NM_002203.3(ITGA2): c.*3385_*3386insGAAA insertion Benign rs59915734 GRCh38 Chromosome 5, 53093984: 53093985
37 ITGA2; MOCS2 NM_002203.3(ITGA2): c.*3763_*3764delAA deletion Benign/Likely benign rs145759303 GRCh37 Chromosome 5, 52390192: 52390193
38 ITGA2; MOCS2 NM_002203.3(ITGA2): c.*3763_*3764delAA deletion Benign/Likely benign rs145759303 GRCh38 Chromosome 5, 53094362: 53094363
39 MOCS2 NM_176806.3(MOCS2): c.*859G> A single nucleotide variant Uncertain significance rs753919594 GRCh37 Chromosome 5, 52394060: 52394060
40 MOCS2 NM_176806.3(MOCS2): c.*859G> A single nucleotide variant Uncertain significance rs753919594 GRCh38 Chromosome 5, 53098230: 53098230
41 MOCS2 NM_176806.3(MOCS2): c.*68A> G single nucleotide variant Likely benign rs2233213 GRCh37 Chromosome 5, 52398005: 52398005
42 MOCS2 NM_176806.3(MOCS2): c.*68A> G single nucleotide variant Likely benign rs2233213 GRCh38 Chromosome 5, 53102175: 53102175
43 MOCS2 NM_176806.3(MOCS2): c.178C> T (p.Arg60Cys) single nucleotide variant Uncertain significance rs146074751 GRCh37 Chromosome 5, 52403014: 52403014
44 MOCS2 NM_176806.3(MOCS2): c.178C> T (p.Arg60Cys) single nucleotide variant Uncertain significance rs146074751 GRCh38 Chromosome 5, 53107184: 53107184
45 MOCS2 NM_176806.3(MOCS2): c.117G> A (p.Lys39=) single nucleotide variant Uncertain significance rs773035025 GRCh37 Chromosome 5, 52404375: 52404375
46 MOCS2 NM_176806.3(MOCS2): c.117G> A (p.Lys39=) single nucleotide variant Uncertain significance rs773035025 GRCh38 Chromosome 5, 53108545: 53108545
47 MOCS2 NM_176806.3(MOCS2): c.14G> A (p.Cys5Tyr) single nucleotide variant Uncertain significance rs572637154 GRCh37 Chromosome 5, 52405546: 52405546
48 MOCS2 NM_176806.3(MOCS2): c.14G> A (p.Cys5Tyr) single nucleotide variant Uncertain significance rs572637154 GRCh38 Chromosome 5, 53109716: 53109716
49 MOCS1 NM_005943.5(MOCS1): c.*2710C> T single nucleotide variant Uncertain significance rs764671362 GRCh37 Chromosome 6, 39872191: 39872191
50 MOCS1 NM_005943.5(MOCS1): c.*2710C> T single nucleotide variant Uncertain significance rs764671362 GRCh38 Chromosome 6, 39904415: 39904415

Expression for Molybdenum Cofactor Deficiency

Search GEO for disease gene expression data for Molybdenum Cofactor Deficiency.

Pathways for Molybdenum Cofactor Deficiency

Pathways related to Molybdenum Cofactor Deficiency according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.53 AOX1 DPYD GPHN MOCS1 MOCS2 MOCS3
2
Show member pathways
11.92 DPYD PNP XDH
3
Show member pathways
11.71 AOX1 GPHN MOCS1 MOCS2 MOCS3 TTR
4 10.8 AOX1 XDH
5
Show member pathways
10.59 GPHN MOCS1 MOCS2
6 10.22 AOX1 XDH
7 10.16 MOCS2 MOCS3

GO Terms for Molybdenum Cofactor Deficiency

Cellular components related to Molybdenum Cofactor Deficiency according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 molybdopterin synthase complex GO:0019008 8.62 MOCS1 MOCS2

Biological processes related to Molybdenum Cofactor Deficiency according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 oxidation-reduction process GO:0055114 9.72 AOX1 DPYD GPHN SUOX XDH
2 purine nucleotide catabolic process GO:0006195 9.26 PNP XDH
3 molybdopterin cofactor biosynthetic process GO:0032324 9.26 GPHN MOCS1 MOCS2 MOCS3
4 xanthine catabolic process GO:0009115 9.16 AOX1 XDH
5 Mo-molybdopterin cofactor biosynthetic process GO:0006777 8.92 GPHN MOCS1 MOCS2 MOCS3

Molecular functions related to Molybdenum Cofactor Deficiency according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 flavin adenine dinucleotide binding GO:0050660 9.54 AOX1 DPYD XDH
2 4 iron, 4 sulfur cluster binding GO:0051539 9.48 DPYD MOCS1
3 iron-sulfur cluster binding GO:0051536 9.46 AOX1 DPYD MOCS1 XDH
4 2 iron, 2 sulfur cluster binding GO:0051537 9.43 AOX1 XDH
5 catalytic activity GO:0003824 9.43 DPYD GPHN MOCS1 MOCS3 PNP XDH
6 oxidoreductase activity, acting on CH-OH group of donors GO:0016614 9.4 AOX1 XDH
7 xanthine dehydrogenase activity GO:0004854 9.32 AOX1 XDH
8 oxidoreductase activity, acting on the aldehyde or oxo group of donors GO:0016903 9.26 AOX1 XDH
9 molybdopterin cofactor binding GO:0043546 8.92 AOX1 GPHN SUOX XDH
10 metal ion binding GO:0046872 10.11 AOX1 DPYD GLRA1 GPHN ITGA2 MOCS1

Sources for Molybdenum Cofactor Deficiency

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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