MCID: DSR002
MIFTS: 30

Disorders of Intracellular Cobalamin Metabolism

Categories: Metabolic diseases

Aliases & Classifications for Disorders of Intracellular Cobalamin Metabolism

MalaCards integrated aliases for Disorders of Intracellular Cobalamin Metabolism:

Name: Disorders of Intracellular Cobalamin Metabolism 25 29 6

Classifications:



Summaries for Disorders of Intracellular Cobalamin Metabolism

MalaCards based summary : Disorders of Intracellular Cobalamin Metabolism is related to megaloblastic anemia and homocystinuria. An important gene associated with Disorders of Intracellular Cobalamin Metabolism is MMACHC (Metabolism Of Cobalamin Associated C), and among its related pathways/superpathways are Metabolism of water-soluble vitamins and cofactors and Folate Metabolism. Affiliated tissues include eye and spinal cord.

GeneReviews: NBK1328

Related Diseases for Disorders of Intracellular Cobalamin Metabolism

Diseases related to Disorders of Intracellular Cobalamin Metabolism via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 35)
# Related Disease Score Top Affiliating Genes
1 megaloblastic anemia 29.7 MTRR MTR MMADHC MMACHC LMBRD1
2 homocystinuria 28.9 PRDX1 MTRR MTR MMADHC MMACHC LMBRD1
3 methylmalonic aciduria and homocystinuria type cblg 10.2 MTRR MTR
4 methylmalonic aciduria and homocystinuria type cble 10.2 MTRR MTR
5 ophthalmia neonatorum 10.2 MTRR MTR
6 methotrexate toxicity 10.2 MTRR MTR
7 urethritis 10.1 MTRR MTR
8 neural tube defects, folate-sensitive 10.1 MTRR MTR
9 glutamate formiminotransferase deficiency 10.1 MTR LMBRD1
10 west syndrome 10.1
11 microcephaly 10.1
12 hydrocephalus 10.1
13 hemolytic-uremic syndrome 10.1
14 encephalopathy 10.1
15 hypotonia 10.1
16 thrombotic microangiopathy 10.1
17 pulmonary hemosiderosis 10.1 MMADHC LMBRD1
18 gallbladder papillomatosis 10.1 LMBRD1 ABCD4
19 homocysteinemia 10.1 MTRR MTR MMACHC
20 myelomeningocele 10.0 MTRR MTR
21 gaucher disease, type ii 10.0 LMBRD1 ABCD4
22 methylmalonic acidemia without homocystinuria 10.0 MTRR MTR MMADHC
23 glutaric acidemia i 10.0 MMADHC LMBRD1
24 cleft lip/palate 10.0 MTRR MTR
25 gaucher disease, type iii 10.0 LMBRD1 ABCD4
26 propionic acidemia 10.0 MMADHC MMACHC LMBRD1
27 anencephaly 9.9 MTRR MTR
28 vitamin b12 deficiency 9.9 MTRR MTR MMACHC LMBRD1
29 organic acidemia 9.8 MTR MMADHC MMACHC LMBRD1
30 amino acid metabolic disorder 9.7 MTRR MTR MMADHC MMACHC LMBRD1
31 methylmalonic acidemia and homocysteinemia, cblx type 9.6 THAP11 MTR MMACHC HCFC1
32 methylmalonic aciduria and homocystinuria, cblc type 9.5 PRDX1 MTR MMADHC MMACHC HCFC1
33 vitamin metabolic disorder 9.4 MTRR MTR MMADHC MMACHC LMBRD1 ABCD4
34 methylmalonic acidemia 9.2 MTRR MTR MMADHC-DT MMADHC MMACHC LMBRD1
35 methylmalonic acidemia with homocystinuria 9.2 PRDX1 MMADHC-DT MMADHC MMACHC HCFC1 ABCD4

Graphical network of the top 20 diseases related to Disorders of Intracellular Cobalamin Metabolism:



Diseases related to Disorders of Intracellular Cobalamin Metabolism

Symptoms & Phenotypes for Disorders of Intracellular Cobalamin Metabolism

Drugs & Therapeutics for Disorders of Intracellular Cobalamin Metabolism

Search Clinical Trials , NIH Clinical Center for Disorders of Intracellular Cobalamin Metabolism

Genetic Tests for Disorders of Intracellular Cobalamin Metabolism

Genetic tests related to Disorders of Intracellular Cobalamin Metabolism:

# Genetic test Affiliating Genes
1 Disorders of Intracellular Cobalamin Metabolism 29 ABCD4 HCFC1 THAP11 ZNF143

Anatomical Context for Disorders of Intracellular Cobalamin Metabolism

MalaCards organs/tissues related to Disorders of Intracellular Cobalamin Metabolism:

40
Eye, Spinal Cord

Publications for Disorders of Intracellular Cobalamin Metabolism

Articles related to Disorders of Intracellular Cobalamin Metabolism:

(show top 50) (show all 149)
# Title Authors PMID Year
1
Ophthalmic Manifestations and Long-Term Visual Outcomes in Patients with Cobalamin C Deficiency. 25 6
26825575 2016
2
Outcomes of four patients with homocysteine remethylation disorders detected by newborn screening. 6 25
25856670 2016
3
Clinical presentation and outcome in a series of 88 patients with the cblC defect. 25 6
24599607 2014
4
Combined pulmonary hypertension and renal thrombotic microangiopathy in cobalamin C deficiency. 6 25
23837176 2013
5
Early onset methylmalonic aciduria and homocystinuria cblC type with demyelinating neuropathy. 6 25
20610126 2010
6
Spectrum of mutations in MMACHC, allelic expression, and evidence for genotype-phenotype correlations. 25 6
19370762 2009
7
Spectrum of MMACHC mutations in Italian and Portuguese patients with combined methylmalonic aciduria and homocystinuria, cblC type. 25 6
18164228 2008
8
Marfanoid features in a child with combined methylmalonic aciduria and homocystinuria (CblC type). 25 6
17768669 2007
9
Late-onset combined homocystinuria and methylmalonic aciduria (cblC) and neuropsychiatric disturbance. 25 6
17853453 2007
10
Combined methylmalonic aciduria and homocystinuria (cblC): phenotype-genotype correlations and ethnic-specific observations. 6 25
16714133 2006
11
Identification of the gene responsible for methylmalonic aciduria and homocystinuria, cblC type. 25 6
16311595 2006
12
Hyperhomocysteinemia due to methionine synthase deficiency, cblG: structure of the MTR gene, genotype diversity, and recognition of a common mutation, P1173L. 25 6
12068375 2002
13
Intractable Epilepsy due to MTR Deficiency: Importance of Homocysteine Analysis. 6
28666289 2017
14
Newborn screening for homocystinurias and methylation disorders: systematic review and proposed guidelines. 61 25
25762406 2015
15
Targeted metabolomics in the expanded newborn screening for inborn errors of metabolism. 6
25689098 2015
16
Whole Exome Sequencing Identifies an Adult-Onset Case of Methylmalonic Aciduria and Homocystinuria Type C (cblC) with Non-Syndromic Bull's Eye Maculopathy. 6
25687216 2015
17
[A case of late-onset cobalamin C disease (methylmalonic aciduria and homocystinuria, cobalamin C type)]. 6
25672861 2015
18
Accelerating novel candidate gene discovery in neurogenetic disorders via whole-exome sequencing of prescreened multiplex consanguineous families. 6
25558065 2015
19
Long-term visual outcome of methylmalonic aciduria and homocystinuria, cobalamin C type. 6
24126030 2014
20
The molecular landscape of propionic acidemia and methylmalonic aciduria in Latin America. 6
20549364 2010
21
Hydroxocobalamin dose escalation improves metabolic control in cblC. 25 61
19821145 2009
22
Defects in human methionine synthase in cblG patients. 6
8968736 1996
23
Transcobalamin receptor defect: Identification of two new cases through positive newborn screening for propionic/methylmalonic aciduria and long-term outcome. 25
29663633 2018
24
Publisher Correction: A PRDX1 mutant allele causes a MMACHC secondary epimutation in cblC patients. 25
29396438 2018
25
Milder clinical and biochemical phenotypes associated with the c.482G>A (p.Arg161Gln) pathogenic variant in cobalamin C disease: Implications for management and screening. 25
28693988 2017
26
Mutations in THAP11 cause an inborn error of cobalamin metabolism and developmental abnormalities. 25
28449119 2017
27
Efficacy of early treatment in patients with cobalamin C disease identified by newborn screening: a 16-year experience. 25
28151490 2017
28
Clinical or ATPase domain mutations in ABCD4 disrupt the interaction between the vitamin B12-trafficking proteins ABCD4 and LMBD1. 25
28572511 2017
29
X-Linked Cobalamin Disorder (HCFC1) Mimicking Nonketotic Hyperglycinemia With Increased Both Cerebrospinal Fluid Glycine and Methylmalonic Acid. 25
28363510 2017
30
Thrombotic microangiopathy caused by methionine synthase deficiency: diagnosis and treatment pitfalls. 25
28210839 2017
31
Renal thrombotic microangiopathy in patients with cblC defect: review of an under-recognized entity. 25
27289364 2017
32
Combined methylmalonic acidemia and homocysteinemia presenting predominantly with late-onset diffuse lung disease: a case series of four patients. 25
28327205 2017
33
Methionine synthase and methionine synthase reductase interact with MMACHC and with MMADHC. 25
27771510 2017
34
Guidelines for diagnosis and management of the cobalamin-related remethylation disorders cblC, cblD, cblE, cblF, cblG, cblJ and MTHFR deficiency. 25
27905001 2017
35
Vitamin B12 Administration by Subcutaneous Catheter Device in a Cobalamin A (cblA) Patient. 25
27858373 2017
36
Inborn Error of Cobalamin Metabolism Associated with the Intracellular Accumulation of Transcobalamin-Bound Cobalamin and Mutations in ZNF143, Which Codes for a Transcriptional Activator. 25
27349184 2016
37
A critical reappraisal of dietary practices in methylmalonic acidemia raises concerns about the safety of medical foods. Part 2: cobalamin C deficiency. 25
26270766 2016
38
Successful intrauterine treatment of a patient with cobalamin C defect. 25
27014578 2016
39
A novel HCFC1 variant in male siblings with intellectual disability and microcephaly in the absence of cobalamin disorder. 25
26893841 2016
40
A New, Atypical Case of Cobalamin F Disorder Diagnosed by Whole Exome Sequencing. 25
26997947 2016
41
Structural Insights into the MMACHC-MMADHC Protein Complex Involved in Vitamin B12 Trafficking. 25
26483544 2015
42
Structure of Human B12 Trafficking Protein CblD Reveals Molecular Mimicry and Identifies a New Subfamily of Nitro-FMN Reductases. 25
26364851 2015
43
Clinical onset and course, response to treatment and outcome in 24 patients with the cblE or cblG remethylation defect complemented by genetic and in vitro enzyme study data. 25
25526710 2015
44
HCFC1 loss-of-function mutations disrupt neuronal and neural progenitor cells of the developing brain. 25
25740848 2015
45
Ocular disease in the cobalamin C defect: a review of the literature and a suggested framework for clinical surveillance. 25
25742969 2015
46
Progressive hyperpigmentation in a Taiwanese child due to an inborn error of vitamin B12 metabolism (cblJ). 25
25234635 2015
47
First Chinese case of successful pregnancy with combined methylmalonic aciduria and homocystinuria, cblC type. 25
24974159 2015
48
Multiple congenital anomalies in two boys with mutation in HCFC1 and cobalamin disorder. 25
25595573 2015
49
Diagnostic Exome Sequencing and Tailored Bioinformatics of the Parents of a Deceased Child with Cobalamin Deficiency Suggests Digenic Inheritance of the MTR and LMBRD1 Genes. 25
24664876 2015
50
Cobalamin C Disease Missed by Newborn Screening in a Patient with Low Carnitine Level. 25
25772322 2015

Variations for Disorders of Intracellular Cobalamin Metabolism

ClinVar genetic disease variations for Disorders of Intracellular Cobalamin Metabolism:

6 (show top 50) (show all 513)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 MMACHC NM_015506.3(MMACHC):c.271dup (p.Arg91fs) Duplication Pathogenic 1421 rs398124292 GRCh37: 1:45973216-45973217
GRCh38: 1:45507544-45507545
2 MTR NM_000254.3(MTR):c.3518C>T SNV Pathogenic 14278 rs121913578 GRCh37: 1:237058770-237058770
GRCh38: 1:236895470-236895470
3 MMACHC NM_015506.3(MMACHC):c.440G>C (p.Gly147Ala) SNV Likely pathogenic 203828 rs140522266 GRCh37: 1:45974478-45974478
GRCh38: 1:45508806-45508806
4 MTRR NM_002454.3(MTRR):c.1182C>G (p.Asp394Glu) SNV Uncertain significance 354361 rs149678769 GRCh37: 5:7889243-7889243
GRCh38: 5:7889130-7889130
5 MTR NM_000254.2(MTR):c.3035A>T (p.Asp1012Val) SNV Uncertain significance 296575 rs201901663 GRCh37: 1:237054460-237054460
GRCh38: 1:236891160-236891160
6 MMACHC NM_015506.3(MMACHC):c.316G>A (p.Glu106Lys) SNV Uncertain significance 203826 rs201617713 GRCh37: 1:45973923-45973923
GRCh38: 1:45508251-45508251
7 MMACHC NM_015506.3(MMACHC):c.545G>A (p.Cys182Tyr) SNV Uncertain significance 297487 rs372010149 GRCh37: 1:45974583-45974583
GRCh38: 1:45508911-45508911
8 MTR NM_000254.3(MTR):c.3770G>T (p.Gly1257Val) SNV Uncertain significance 876630 GRCh37: 1:237060916-237060916
GRCh38: 1:236897616-236897616
9 MMACHC NM_015506.3(MMACHC):c.472T>C (p.Phe158Leu) SNV Uncertain significance 203830 rs201312386 GRCh37: 1:45974510-45974510
GRCh38: 1:45508838-45508838
10 MTR NM_000254.2(MTR):c.1862A>G (p.Asp621Gly) SNV Uncertain significance 579433 rs61736440 GRCh37: 1:237016297-237016297
GRCh38: 1:236852997-236852997
11 MTRR NM_002454.3(MTRR):c.208C>T (p.Arg70Cys) SNV Uncertain significance 354343 rs374239028 GRCh37: 5:7873564-7873564
GRCh38: 5:7873451-7873451
12 MTRR NM_002454.3(MTRR):c.540G>A (p.Val180=) SNV Uncertain significance 354353 rs149037732 GRCh37: 5:7878195-7878195
GRCh38: 5:7878082-7878082
13 MTRR NM_002454.3(MTRR):c.503C>T (p.Pro168Leu) SNV Uncertain significance 905354 GRCh37: 5:7878158-7878158
GRCh38: 5:7878045-7878045
14 MTRR NM_002454.3(MTRR):c.1020C>T (p.Cys340=) SNV Uncertain significance 378181 rs201348649 GRCh37: 5:7885930-7885930
GRCh38: 5:7885817-7885817
15 MTRR NM_002454.3(MTRR):c.869T>C (p.Ile290Thr) SNV Uncertain significance 354357 rs144899305 GRCh37: 5:7883356-7883356
GRCh38: 5:7883243-7883243
16 MMACHC NM_015506.3(MMACHC):c.766_771del (p.Ala256_Pro257del) Deletion Uncertain significance 208197 rs796064513 GRCh37: 1:45974801-45974806
GRCh38: 1:45509129-45509134
17 MTRR NM_002454.3(MTRR):c.1091_1093del (p.Cys364del) Deletion Uncertain significance 203842 rs796052001 GRCh37: 5:7886760-7886762
GRCh38: 5:7886647-7886649
18 MTRR NM_002454.3(MTRR):c.246G>C (p.Pro82=) SNV Uncertain significance 706109 rs149300444 GRCh37: 5:7873602-7873602
GRCh38: 5:7873489-7873489
19 MTRR NM_002454.3(MTRR):c.27T>C (p.Ala9=) SNV Uncertain significance 764651 rs114748706 GRCh37: 5:7870934-7870934
GRCh38: 5:7870821-7870821
20 MTRR NM_002454.3(MTRR):c.1021G>A (p.Val341Ile) SNV Uncertain significance 578634 rs74790259 GRCh37: 5:7885931-7885931
GRCh38: 5:7885818-7885818
21 MMACHC NM_015506.3(MMACHC):c.*5C>G SNV Uncertain significance 297490 rs557994288 GRCh37: 1:45974892-45974892
GRCh38: 1:45509220-45509220
22 MMACHC NM_015506.3(MMACHC):c.*1701T>A SNV Uncertain significance 297530 rs886046384 GRCh37: 1:45976588-45976588
GRCh38: 1:45510916-45510916
23 MMACHC NM_015506.2(MMACHC):c.-94A>G SNV Uncertain significance 297477 rs556541742 GRCh37: 1:45965911-45965911
GRCh38: 1:45500239-45500239
24 MMADHC NM_015702.3(MMADHC):c.244T>G (p.Cys82Gly) SNV Uncertain significance 331382 rs760590651 GRCh37: 2:150436073-150436073
GRCh38: 2:149579559-149579559
25 MMACHC NM_015506.3(MMACHC):c.*200A>T SNV Uncertain significance 297496 rs886046370 GRCh37: 1:45975087-45975087
GRCh38: 1:45509415-45509415
26 MMACHC NM_015506.3(MMACHC):c.334C>T (p.Arg112Cys) SNV Uncertain significance 297483 rs187869948 GRCh37: 1:45973941-45973941
GRCh38: 1:45508269-45508269
27 MMACHC NM_015506.3(MMACHC):c.*1154_*1155CT[1] Microsatellite Uncertain significance 297519 rs886046380 GRCh37: 1:45976041-45976044
GRCh38: 1:45510369-45510372
28 MMADHC-DT , MMADHC NM_015702.3(MMADHC):c.-62G>A SNV Uncertain significance 331389 rs886054924 GRCh37: 2:150444187-150444187
GRCh38: 2:149587673-149587673
29 MMACHC NM_015506.3(MMACHC):c.*860del Deletion Uncertain significance 297513 rs886046377 GRCh37: 1:45975747-45975747
GRCh38: 1:45510075-45510075
30 MMACHC NM_015506.3(MMACHC):c.*538_*540GTT[1] Microsatellite Uncertain significance 297507 rs886046374 GRCh37: 1:45975424-45975426
GRCh38: 1:45509752-45509754
31 MTR NM_000254.2(MTR):c.2686C>T (p.Leu896=) SNV Uncertain significance 296572 rs147762307 GRCh37: 1:237048430-237048430
GRCh38: 1:236885130-236885130
32 MMACHC NM_015506.3(MMACHC):c.*740T>C SNV Uncertain significance 297510 rs886046376 GRCh37: 1:45975627-45975627
GRCh38: 1:45509955-45509955
33 MMACHC NM_015506.3(MMACHC):c.*84G>T SNV Uncertain significance 297493 rs553866522 GRCh37: 1:45974971-45974971
GRCh38: 1:45509299-45509299
34 MMACHC NM_015506.3(MMACHC):c.*1000A>G SNV Uncertain significance 297516 rs886046378 GRCh37: 1:45975887-45975887
GRCh38: 1:45510215-45510215
35 MMACHC NM_015506.3(MMACHC):c.*217_*218insTTTTA Insertion Uncertain significance 297499 rs1553163069 GRCh37: 1:45975104-45975105
GRCh38: 1:45509432-45509433
36 MMACHC NM_015506.3(MMACHC):c.*1646_*1647del Deletion Uncertain significance 297528 rs886046383 GRCh37: 1:45976533-45976534
GRCh38: 1:45510861-45510862
37 MMADHC NM_015702.3(MMADHC):c.254A>G (p.Asn85Ser) SNV Uncertain significance 331381 rs767542742 GRCh37: 2:150436063-150436063
GRCh38: 2:149579549-149579549
38 MTR NM_000254.2(MTR):c.866-10C>G SNV Uncertain significance 296554 rs368755647 GRCh37: 1:236988628-236988628
GRCh38: 1:236825328-236825328
39 MMACHC NM_015506.3(MMACHC):c.241C>T (p.Gln81Ter) SNV Uncertain significance 297480 rs373246922 GRCh37: 1:45973187-45973187
GRCh38: 1:45507515-45507515
40 MMACHC NM_015506.3(MMACHC):c.-25G>A SNV Uncertain significance 297478 rs750522696 GRCh37: 1:45965980-45965980
GRCh38: 1:45500308-45500308
41 MMACHC NM_015506.3(MMACHC):c.*962C>T SNV Uncertain significance 297514 rs181264318 GRCh37: 1:45975849-45975849
GRCh38: 1:45510177-45510177
42 MMACHC NM_015506.3(MMACHC):c.*1101G>C SNV Uncertain significance 297517 rs886046379 GRCh37: 1:45975988-45975988
GRCh38: 1:45510316-45510316
43 MMACHC NM_015506.3(MMACHC):c.*11T>C SNV Uncertain significance 297491 rs886046369 GRCh37: 1:45974898-45974898
GRCh38: 1:45509226-45509226
44 MMACHC NM_015506.3(MMACHC):c.*169G>A SNV Uncertain significance 297494 rs566121791 GRCh37: 1:45975056-45975056
GRCh38: 1:45509384-45509384
45 MMADHC NM_015702.3(MMADHC):c.*241A>G SNV Uncertain significance 331371 rs528409808 GRCh37: 2:150426247-150426247
GRCh38: 2:149569733-149569733
46 MMACHC NM_015506.3(MMACHC):c.*345C>G SNV Uncertain significance 297504 rs886046373 GRCh37: 1:45975232-45975232
GRCh38: 1:45509560-45509560
47 MMACHC NM_015506.3(MMACHC):c.*1239G>T SNV Uncertain significance 297521 rs886046381 GRCh37: 1:45976126-45976126
GRCh38: 1:45510454-45510454
48 MMACHC NM_015506.3(MMACHC):c.*677A>G SNV Uncertain significance 297508 rs886046375 GRCh37: 1:45975564-45975564
GRCh38: 1:45509892-45509892
49 MMACHC NM_015506.3(MMACHC):c.691T>C (p.Leu231=) SNV Uncertain significance 297488 rs373198842 GRCh37: 1:45974729-45974729
GRCh38: 1:45509057-45509057
50 MMACHC NM_015506.3(MMACHC):c.*818C>T SNV Uncertain significance 297511 rs540427267 GRCh37: 1:45975705-45975705
GRCh38: 1:45510033-45510033

Expression for Disorders of Intracellular Cobalamin Metabolism

Search GEO for disease gene expression data for Disorders of Intracellular Cobalamin Metabolism.

Pathways for Disorders of Intracellular Cobalamin Metabolism

Pathways related to Disorders of Intracellular Cobalamin Metabolism according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.04 MTRR MTR MMADHC MMACHC LMBRD1 ABCD4
2
Show member pathways
11.88 PRDX1 MTRR MTR
3
Show member pathways
11.43 MTRR MTR MMADHC MMACHC
4 10.7 MMACHC LMBRD1
5 10.42 MTRR MTR MMADHC MMACHC LMBRD1 ABCD4
6
Show member pathways
9.86 MTRR MTR

GO Terms for Disorders of Intracellular Cobalamin Metabolism

Biological processes related to Disorders of Intracellular Cobalamin Metabolism according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 cellular amino acid biosynthetic process GO:0008652 9.26 MTRR MTR
2 methionine biosynthetic process GO:0009086 9.16 MTRR MTR
3 cobalamin metabolic process GO:0009235 9.1 MTRR MTR MMADHC MMACHC LMBRD1 ABCD4
4 sulfur amino acid metabolic process GO:0000096 8.96 MTRR MTR

Molecular functions related to Disorders of Intracellular Cobalamin Metabolism according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 FAD binding GO:0071949 8.96 MTRR MMACHC
2 cobalamin binding GO:0031419 8.8 MTR MMACHC LMBRD1

Sources for Disorders of Intracellular Cobalamin Metabolism

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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