IFD
MCID: CNG016
MIFTS: 36

Congenital Intrinsic Factor Deficiency (IFD)

Categories: Blood diseases, Gastrointestinal diseases, Metabolic diseases, Rare diseases

Aliases & Classifications for Congenital Intrinsic Factor Deficiency

MalaCards integrated aliases for Congenital Intrinsic Factor Deficiency:

Name: Congenital Intrinsic Factor Deficiency 12 58 6 15
Intrinsic Factor Deficiency 58 71
Hereditary Juvenile Megaloblastic Anemia Due to Intrinsic Factor Deficiency 58
Intrinsic Factor Deficiency, Congenital, Susceptibility to 6
Megaloblastic Anemia Due to Inborn Errors of Metabolism 71
Congenital Deficiency of Intrinsic Factor 71
Hereditary Intrinsic Factor Deficiency 12
Gastric Intrinsic Factor Deficiency 58
Congenital Pernicious Anemia 58
Ifd 58

Characteristics:

Orphanet epidemiological data:

58
congenital intrinsic factor deficiency
Inheritance: Autosomal recessive,Not applicable; Prevalence: <1/1000000 (Worldwide); Age of onset: Childhood; Age of death: normal life expectancy;

Classifications:

Orphanet: 58  
Inborn errors of metabolism
Rare haematological diseases


External Ids:

Disease Ontology 12 DOID:0050734
ICD10 via Orphanet 33 D51.0
UMLS via Orphanet 72 C0340957 C1394891
Orphanet 58 ORPHA332
UMLS 71 C0340957 C1306856 C1394891

Summaries for Congenital Intrinsic Factor Deficiency

Disease Ontology : 12 A vitamin B12 deficiency that is characterized by megaloblastic anemia due to the absence of gastric intrinsic factor which results in abnormal vitamin B12 absorption.

MalaCards based summary : Congenital Intrinsic Factor Deficiency, also known as intrinsic factor deficiency, is related to vitamin b12 deficiency and pernicious anemia. An important gene associated with Congenital Intrinsic Factor Deficiency is CBLIF (Cobalamin Binding Intrinsic Factor), and among its related pathways/superpathways are Metabolism of water-soluble vitamins and cofactors and Lipoprotein metabolism. Related phenotype is cardiovascular system.

Related Diseases for Congenital Intrinsic Factor Deficiency

Diseases related to Congenital Intrinsic Factor Deficiency via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 85)
# Related Disease Score Top Affiliating Genes
1 vitamin b12 deficiency 29.9 TCN2 CUBN CBLIF AMN
2 pernicious anemia 29.7 TCN2 CBLIF CBL
3 megaloblastic anemia 28.8 TCN2 LRP2 CUBN CBLIF CBL AMN
4 intrinsic factor deficiency 11.4
5 diphyllobothriasis 10.3 CBLIF AMN
6 constitutional megaloblastic anemia due to vitamin b12 metabolism disorder 10.3
7 fanconi-like syndrome 10.3 LRP2 CUBN
8 transcobalamin ii deficiency 10.3 TCN2 CBLIF
9 blind loop syndrome 10.2 CBLIF ALB
10 imerslund-grasbeck syndrome 1 10.2 CUBN AMN
11 donnai-barrow syndrome 10.1 LRP2 CUBN AMN
12 periodontal ehlers-danlos syndrome 10.1 C1S C1R
13 immunodeficiency due to a classical component pathway complement deficiency 10.1 C1S C1R
14 complement deficiency 10.1 C1S C1R
15 ehlers-danlos syndrome, periodontal type, 2 10.1 C1S C1R
16 ehlers-danlos syndrome, periodontal type, 1 10.1 C1S C1R
17 vulvar angiokeratoma 10.1 F3 C1S
18 ankylosing spondylitis 1 10.1 F3 ALB
19 gingival recession 10.1 C1S C1R
20 epidural abscess 10.1 F3 ALB
21 hepatic infarction 10.1 F3 ALB
22 splenic abscess 10.1 F3 ALB
23 complement component 3 deficiency 10.1 C1S C1R
24 critical illness polyneuropathy 10.1 F3 ALB
25 mediastinitis 10.1 F3 ALB
26 aspiration pneumonitis 10.1 F3 ALB
27 renal tubular transport disease 10.1 LRP2 CUBN
28 intracranial embolism 10.1 F3 ALB
29 active peptic ulcer disease 10.1 F3 ALB
30 hepatic coma 10.1 F3 ALB
31 splenic infarction 10.0 F3 ALB
32 parametritis 10.0 F3 ALB
33 vulvar benign neoplasm 10.0 F3 C1S
34 acute kidney tubular necrosis 10.0 LRP2 ALB
35 neutropenia 10.0
36 cardiac tamponade 10.0 F3 ALB
37 tropical sprue 10.0 CBLIF AMN ALB
38 analbuminemia 10.0 F3 ALB
39 hantavirus hemorrhagic fever with renal syndrome 10.0 F3 ALB
40 esophageal varix 10.0 F3 ALB
41 compartment syndrome 10.0 F3 ALB
42 anuria 10.0 F3 ALB
43 deficiency anemia 10.0
44 cecal disease 10.0 F3 ALB
45 papilledema 10.0 F3 ALB
46 tricuspid valve disease 10.0 F3 ALB
47 tricuspid valve insufficiency 10.0 F3 ALB
48 proteinuria, chronic benign 10.0 LRP2 CUBN ALB
49 thrombophlebitis 10.0 F3 ALB
50 cystinosis 10.0 LRP2 CUBN ALB

Graphical network of the top 20 diseases related to Congenital Intrinsic Factor Deficiency:



Diseases related to Congenital Intrinsic Factor Deficiency

Symptoms & Phenotypes for Congenital Intrinsic Factor Deficiency

MGI Mouse Phenotypes related to Congenital Intrinsic Factor Deficiency:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 cardiovascular system MP:0005385 9.23 ALB AMN BMP1 CBL CUBN F3

Drugs & Therapeutics for Congenital Intrinsic Factor Deficiency

Search Clinical Trials , NIH Clinical Center for Congenital Intrinsic Factor Deficiency

Genetic Tests for Congenital Intrinsic Factor Deficiency

Anatomical Context for Congenital Intrinsic Factor Deficiency

Publications for Congenital Intrinsic Factor Deficiency

Articles related to Congenital Intrinsic Factor Deficiency:

(show all 46)
# Title Authors PMID Year
1
Identification of a 4-base deletion in the gene in inherited intrinsic factor deficiency. 61 6
14576042 2004
2
A genetic polymorphism in the coding region of the gastric intrinsic factor gene (GIF) is associated with congenital intrinsic factor deficiency. 6 61
14695536 2004
3
Hereditary juvenile cobalamin deficiency caused by mutations in the intrinsic factor gene. 6
15738392 2005
4
Hereditary intrinsic factor deficiency in China caused by a novel mutation in the intrinsic factor gene-a case report. 61
33172407 2020
5
Autoimmune Gastritis. 61
31661309 2019
6
Vitamin B12 Deficiency in a Patient Presenting with Dyspnea: A Case Report. 61
31172130 2019
7
Biochemical and Hematologic Manifestations of Gastric Intrinsic Factor (GIF) Deficiency: A Treatable Cause of B12 Deficiency in the Old Order Mennonite Population of Southwestern Ontario. 61
25308559 2015
8
Frequency of intrinsic factor antibody in megaloblastic anaemia. 61
24613108 2014
9
Vitamin B12 absorption: mammalian physiology and acquired and inherited disorders. 61
23178706 2013
10
Gastric intrinsic factor deficiency with combined GIF heterozygous mutations and FUT2 secretor variant. 61
23402911 2013
11
Hereditary intrinsic factor deficiency in chaldeans. 61
23430489 2013
12
How can cobalamin injections be spaced in long-term therapy for inborn errors of vitamin B(12) absorption? 61
22854512 2012
13
Inherited cobalamin malabsorption. Mutations in three genes reveal functional and ethnic patterns. 61
22929189 2012
14
Diagnosis and management of pernicious anemia. 61
21947876 2011
15
Inborn errors of cobalamin absorption and metabolism. 61
21312325 2011
16
Pernicious anemia: new insights from a gastroenterological point of view. 61
19891010 2009
17
[Oral better than parenteral supplementation of vitamin B12]. 61
19900336 2009
18
[Hereditary juvenile cobalamin deficiency due to mutations in GIF gene]. 61
18620679 2008
19
Acquired and inherited disorders of cobalamin and folate in children. 61
16846473 2006
20
Nonradioactive vitamin B12 absorption test evaluated in controls and in patients with inherited malabsorption of vitamin B12. 61
16166166 2005
21
[Vitamin B12 deficiency. New data on an old theme]. 61
16395986 2005
22
Case of megaloblastic anemia caused by intestinal taeniasis. 61
14730392 2004
23
[Atrophic gastritis presenting with pulmonary embolism]. 61
11341183 2000
24
Genetic defects of folate and cobalamin metabolism. 61
9587028 1998
25
Primary gastric lymphoma presenting with vitamin B12 deficiency and achlorhydria. 61
8946996 1996
26
[Dementia caused by bacterial overgrowth in a patient with Billroth II gastrectomy]. 61
8755325 1996
27
[Imerslund-Najman-Grasbeck anemia. Apropos of a case]. 61
8015868 1993
28
Bound vitamin B12 absorption in patients with low serum B12 levels. 61
1609768 1992
29
Congenital intrinsic factor deficiency in a Spanish patient. 61
1581408 1992
30
One-step chromogenic equivalent of activated partial thromboplastin time evaluated for clinical application. 61
1855296 1991
31
[Congenital intrinsic factor deficiency. Apropos of 3 cases in a sibship]. 61
3395196 1988
32
Incidence and clinical significance of protein-bound vitamin B12 malabsorption. 61
3595808 1987
33
Malabsorption of vitamin B12 and intrinsic factor secretion during biguanide therapy. 61
6825978 1983
34
Gastric juice in congenital pernicious anemia contains no immunoreactive intrinsic factor molecule: study of three kindreds with variable ages at presentation, including a patient first diagnosed in adulthood. 61
6823973 1983
35
[Influence of intrinsic factor deficiency on malabsorption of vitamin B12 bound to proteins in achlorhydria]. 61
7117768 1982
36
Intrinsic factor deficiency in adults with normal hydrochloric acid production. 61
7450447 1981
37
[Vitamins in metabolic diseases]. 61
7027768 1981
38
[Juvenile pernicious anemia with congenital intrinsic factor deficiency and intermediate intrinsic factor secretion in the parents]. 61
711491 1978
39
Vitamin B 12 malabsorption due to intrinsic factor deficiency in Indian subjects. 61
5078931 1972
40
Standardized annular assay of dual radioisotopes on a well type sodium iodide crystal. 61
5430423 1970
41
Simultaneous free and bound radioactive vitamin B-12 urinary excretion test. 61
5835443 1965
42
INTRINSIC FACTOR DEFICIENCY IN MALIGNANT NEOPLASIA OF THE STOMACH. 61
14082869 1963
43
Simultaneous administration of gastric juice--bound and free radioactive cyanocobalamin: rapid procedure for differentiating between intrinsic factor deficiency and other causes of vitamin B 12 malabsorption. 61
14031310 1963
44
Intrinsic factor deficiency, achlorhydria, and malignancy in polyps of the stomach and duodenum. 61
13889742 1962
45
[Recent methods of studies on the differential diagnosis of multiple sclerosis & vitamin B12 deficiency; vitamin B12 & intrinsic factor deficiency in a patient with spastic paraparesis & light anemia with normoblastic erythropoiesis]. 61
13592978 1958
46
Some observations on nontropical sprue; a case with hypocalcemia, intrinsic factor deficiency anemia and diabetes mellitus. 61
13595357 1958

Variations for Congenital Intrinsic Factor Deficiency

ClinVar genetic disease variations for Congenital Intrinsic Factor Deficiency:

6 (show top 50) (show all 53)
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 CBLIF NM_005142.3(CBLIF):c.161del (p.Asn54fs) Deletion Pathogenic 1747 rs1590860794 11:59611447-59611447 11:59843974-59843974
2 CBLIF NM_005142.3(CBLIF):c.1175dup (p.Thr393fs) Duplication Pathogenic 1748 rs1590854624 11:59599167-59599168 11:59831694-59831695
3 CBLIF NM_005142.3(CBLIF):c.80-1G>A SNV Pathogenic 1745 rs1590860877 11:59611529-59611529 11:59844056-59844056
4 CBLIF NM_005142.3(CBLIF):c.183_186del (p.Met61fs) Deletion Pathogenic 566919 rs765896727 11:59611422-59611425 11:59843949-59843952
5 CBLIF NM_005142.3(CBLIF):c.79+1G>A SNV Pathogenic 439755 rs147785187 11:59612847-59612847 11:59845374-59845374
6 CBLIF NM_005142.3(CBLIF):c.68A>G (p.Gln23Arg) SNV risk factor 1742 rs35211634 11:59612859-59612859 11:59845386-59845386
7 CBLIF NM_005142.3(CBLIF):c.661G>A (p.Gly221Arg) SNV Likely pathogenic 830018 rs1590859406 11:59608648-59608648 11:59841175-59841175
8 CBLIF NM_005142.3(CBLIF):c.137C>T (p.Ser46Leu) SNV Conflicting interpretations of pathogenicity 1746 rs121434322 11:59611471-59611471 11:59843998-59843998
9 CBLIF NM_005142.3(CBLIF):c.455C>T (p.Pro152Leu) SNV Conflicting interpretations of pathogenicity 305037 rs148081315 11:59609972-59609972 11:59842499-59842499
10 CBLIF NM_005142.3(CBLIF):c.910C>T (p.Pro304Ser) SNV Conflicting interpretations of pathogenicity 305032 rs150926439 11:59603444-59603444 11:59835971-59835971
11 CBLIF NM_005142.3(CBLIF):c.154T>A (p.Tyr52Asn) SNV Conflicting interpretations of pathogenicity 305044 rs144916324 11:59611454-59611454 11:59843981-59843981
12 CBLIF NM_005142.3(CBLIF):c.1107C>T (p.Val369=) SNV Uncertain significance 305030 rs537424617 11:59599236-59599236 11:59831763-59831763
13 CBLIF NM_005142.3(CBLIF):c.854A>G (p.Gln285Arg) SNV Uncertain significance 305033 rs886048402 11:59604664-59604664 11:59837191-59837191
14 CBLIF NM_005142.3(CBLIF):c.*56T>G SNV Uncertain significance 305029 rs886048401 11:59596901-59596901 11:59829428-59829428
15 CBLIF NM_005142.3(CBLIF):c.79+3G>A SNV Uncertain significance 305045 rs146396839 11:59612845-59612845 11:59845372-59845372
16 CBLIF NM_005142.3(CBLIF):c.379G>A (p.Ala127Thr) SNV Uncertain significance 305038 rs760404861 11:59610048-59610048 11:59842575-59842575
17 CBLIF NM_005142.3(CBLIF):c.1221C>G (p.His407Gln) SNV Uncertain significance 573386 rs148989677 11:59596990-59596990 11:59829517-59829517
18 CBLIF NM_005142.3(CBLIF):c.1163T>C (p.Phe388Ser) SNV Uncertain significance 574163 rs767310648 11:59599180-59599180 11:59831707-59831707
19 CBLIF NM_005142.3(CBLIF):c.1181del (p.Pro394fs) Deletion Uncertain significance 581451 rs1565206584 11:59599162-59599162 11:59831689-59831689
20 CBLIF NM_005142.3(CBLIF):c.232C>T (p.Gln78Ter) SNV Uncertain significance 632162 rs1565210437 11:59611376-59611376 11:59843903-59843903
21 CBLIF NM_005142.3(CBLIF):c.829G>C (p.Gly277Arg) SNV Uncertain significance 660115 rs138504371 11:59604689-59604689 11:59837216-59837216
22 CBLIF NM_005142.3(CBLIF):c.482T>G (p.Leu161Arg) SNV Uncertain significance 660502 rs200856492 11:59609945-59609945 11:59842472-59842472
23 CBLIF NM_005142.3(CBLIF):c.834G>C (p.Lys278Asn) SNV Uncertain significance 305034 rs886048403 11:59604684-59604684 11:59837211-59837211
24 CBLIF NM_005142.3(CBLIF):c.218A>G (p.Lys73Arg) SNV Uncertain significance 305043 rs139444835 11:59611390-59611390 11:59843917-59843917
25 CBLIF NM_005142.3(CBLIF):c.524T>C (p.Met175Thr) SNV Uncertain significance 305036 rs886048404 11:59608785-59608785 11:59841312-59841312
26 CBLIF NM_005142.3(CBLIF):c.371-15C>T SNV Uncertain significance 305039 rs759810252 11:59610071-59610071 11:59842598-59842598
27 CBLIF NM_005142.3(CBLIF):c.138G>A (p.Ser46=) SNV Uncertain significance 761936 rs200472519 11:59611470-59611470 11:59843997-59843997
28 CBLIF NM_005142.3(CBLIF):c.26T>C (p.Leu9Pro) SNV Uncertain significance 877195 11:59612901-59612901 11:59845428-59845428
29 CBLIF NM_005142.3(CBLIF):c.*87G>A SNV Uncertain significance 878166 11:59596870-59596870 11:59829397-59829397
30 CBLIF NM_005142.3(CBLIF):c.1180C>T (p.Pro394Ser) SNV Uncertain significance 878167 11:59599163-59599163 11:59831690-59831690
31 CBLIF NM_005142.3(CBLIF):c.1074-3T>C SNV Uncertain significance 800190 rs370833765 11:59599272-59599272 11:59831799-59831799
32 CBLIF NM_005142.3(CBLIF):c.1074-14A>G SNV Uncertain significance 879624 11:59599283-59599283 11:59831810-59831810
33 CBLIF NM_005142.3(CBLIF):c.574G>A (p.Glu192Lys) SNV Uncertain significance 879625 11:59608735-59608735 11:59841262-59841262
34 CBLIF NM_005142.3(CBLIF):c.256+10C>T SNV Uncertain significance 719724 rs369960390 11:59611342-59611342 11:59843869-59843869
35 CBLIF NM_005142.3(CBLIF):c.239T>C (p.Met80Thr) SNV Uncertain significance 879991 11:59611369-59611369 11:59843896-59843896
36 CBLIF NM_005142.3(CBLIF):c.82G>A (p.Val28Ile) SNV Uncertain significance 945698 11:59611526-59611526 11:59844053-59844053
37 CBLIF NM_005142.3(CBLIF):c.778G>C (p.Gly260Arg) SNV Uncertain significance 948439 11:59604740-59604740 11:59837267-59837267
38 CBLIF NM_005142.3(CBLIF):c.1055G>A (p.Arg352His) SNV Uncertain significance 955587 11:59603299-59603299 11:59835826-59835826
39 CBLIF NM_005142.3(CBLIF):c.1130C>T (p.Ala377Val) SNV Uncertain significance 971205 11:59599213-59599213 11:59831740-59831740
40 CBLIF NM_005142.3(CBLIF):c.432_434GAA[1] (p.Lys145del) Microsatellite Likely benign 208192 rs770530971 11:59609990-59609992 11:59842517-59842519
41 CBLIF NM_005142.3(CBLIF):c.1221C>T (p.His407=) SNV Likely benign 750113 rs148989677 11:59596990-59596990 11:59829517-59829517
42 CBLIF NM_005142.3(CBLIF):c.381T>G (p.Ala127=) SNV Likely benign 762559 rs1590860111 11:59610046-59610046 11:59842573-59842573
43 CBLIF NM_005142.3(CBLIF):c.1138G>A (p.Val380Ile) SNV Benign/Likely benign 788331 rs144070828 11:59599205-59599205 11:59831732-59831732
44 CBLIF NM_005142.3(CBLIF):c.193G>A (p.Gly65Arg) SNV Benign 618142 rs11825834 11:59611415-59611415 11:59843942-59843942
45 CBLIF NM_005142.3(CBLIF):c.59C>T (p.Thr20Ile) SNV Benign 770216 rs759872025 11:59612868-59612868 11:59845395-59845395
46 CBLIF NM_005142.3(CBLIF):c.764A>G (p.Asn255Ser) SNV Benign 305035 rs35867471 11:59604754-59604754 11:59837281-59837281
47 CBLIF NM_005142.3(CBLIF):c.247G>A (p.Asp83Asn) SNV Benign 305041 rs115964827 11:59611361-59611361 11:59843888-59843888
48 CBLIF NM_005142.3(CBLIF):c.246C>T (p.Ser82=) SNV Benign 305042 rs35792306 11:59611362-59611362 11:59843889-59843889
49 CBLIF NM_005142.3(CBLIF):c.990C>T (p.Asn330=) SNV Benign 305031 rs2867802 11:59603364-59603364 11:59835891-59835891
50 CBLIF NM_005142.3(CBLIF):c.290T>C (p.Met97Thr) SNV Benign 305040 rs150884181 11:59610581-59610581 11:59843108-59843108

Expression for Congenital Intrinsic Factor Deficiency

Search GEO for disease gene expression data for Congenital Intrinsic Factor Deficiency.

Pathways for Congenital Intrinsic Factor Deficiency

Pathways related to Congenital Intrinsic Factor Deficiency according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.37 TCN2 LRP2 CUBN CBLIF AMN
2
Show member pathways
12.24 CUBN BMP1 AMN ALB
3
Show member pathways
11.89 TCN2 LRP2 CUBN CBLIF ALB
4 11.77 F3 C1S C1R
5
Show member pathways
11.53 TCN2 CUBN CBLIF AMN
6 10.88 TCN2 CUBN CBLIF
7 10.25 TCN2 CUBN CBLIF AMN
8
Show member pathways
9.98 CUBN CBLIF AMN

GO Terms for Congenital Intrinsic Factor Deficiency

Cellular components related to Congenital Intrinsic Factor Deficiency according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 endosome GO:0005768 9.83 TCN2 LRP2 CUBN CBLIF AMN
2 apical plasma membrane GO:0016324 9.76 LRP2 CUBN CBLIF AMN
3 blood microparticle GO:0072562 9.65 C1S C1R ALB
4 lysosomal lumen GO:0043202 9.58 TCN2 CUBN CBLIF
5 extracellular region GO:0005576 9.56 TCN2 F3 CBLIF C1S C1R BMP1
6 apical part of cell GO:0045177 9.54 LRP2 CUBN AMN
7 clathrin-coated pit GO:0005905 9.5 LRP2 CUBN AMN
8 endocytic vesicle GO:0030139 9.43 LRP2 CUBN AMN
9 brush border membrane GO:0031526 9.33 LRP2 CUBN AMN
10 extracellular space GO:0005615 9.23 TCN2 F3 CBLIF C1S C1R BMP1

Biological processes related to Congenital Intrinsic Factor Deficiency according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 receptor-mediated endocytosis GO:0006898 9.46 LRP2 CUBN AMN ALB
2 vitamin D metabolic process GO:0042359 9.37 LRP2 CUBN
3 high-density lipoprotein particle clearance GO:0034384 9.32 CUBN AMN
4 cobalt ion transport GO:0006824 9.26 TCN2 CBLIF
5 cobalamin metabolic process GO:0009235 9.26 TCN2 CUBN CBLIF AMN
6 cobalamin transport GO:0015889 8.92 TCN2 CUBN CBLIF AMN

Molecular functions related to Congenital Intrinsic Factor Deficiency according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 metal ion binding GO:0046872 9.76 TCN2 SMAD9 LRP2 CUBN CBL C1S
2 serine-type endopeptidase activity GO:0004252 9.43 F3 C1S C1R
3 calcium ion binding GO:0005509 9.43 LRP2 CUBN CBL C1S C1R BMP1
4 cobalamin binding GO:0031419 8.8 TCN2 CUBN CBLIF

Sources for Congenital Intrinsic Factor 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 05-Mar-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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