CAA-ITM2B1
MCID: CRB176
MIFTS: 43

Cerebral Amyloid Angiopathy, Itm2b-Related, 1 (CAA-ITM2B1)

Categories: Bone diseases, Cardiovascular diseases, Ear diseases, Genetic diseases, Mental diseases, Metabolic diseases, Muscle diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Cerebral Amyloid Angiopathy, Itm2b-Related, 1

MalaCards integrated aliases for Cerebral Amyloid Angiopathy, Itm2b-Related, 1:

Name: Cerebral Amyloid Angiopathy, Itm2b-Related, 1 57 6
Dementia, Familial British 57 74 13 54 71
Presenile Dementia with Spastic Ataxia 57 12 73
Familial British Dementia 12 74 73
Fbd 57 12 73
Itm2b-Related Cerebral Amyloid Angiopathy 1 12 15
Cerebral Amyloid Angiopathy, British Type 57 12
Cerebral Amyloid Angiopathy, Itm2b-Related 1 73
Cerebral Amyloid Angiopathy British Type 73
Dementia, Familial British; Fbd 57
Familial Dementia, British Type 58
Dementia, Familial, British 39
Abri Amyloidosis 58
Caa-Itm2b1 73

Characteristics:

Orphanet epidemiological data:

58
abri amyloidosis
Inheritance: Autosomal dominant; Age of onset: Adult;

OMIM®:

57 (Updated 05-Mar-2021)
Inheritance:
autosomal dominant


HPO:

31
cerebral amyloid angiopathy, itm2b-related, 1:
Inheritance autosomal dominant inheritance


Classifications:

Orphanet: 58  
Rare neurological diseases
Rare systemic and rhumatological diseases


External Ids:

Disease Ontology 12 DOID:0070029
OMIM® 57 176500
MeSH 44 D028243
MESH via Orphanet 45 C538208
ICD10 via Orphanet 33 E85.4+ I68.0*
UMLS via Orphanet 72 C1867773
Orphanet 58 ORPHA97345
MedGen 41 C1867773
UMLS 71 C1867773

Summaries for Cerebral Amyloid Angiopathy, Itm2b-Related, 1

UniProtKB/Swiss-Prot : 73 Cerebral amyloid angiopathy, ITM2B-related 1: A disorder characterized by amyloid deposition in the walls of cerebral blood vessels and neurodegeneration in the central nervous system. Cerebral amyloid angiopathy, non-neuritic and perivascular plaques and neurofibrillary tangles are the predominant pathological lesions. Clinical features include progressive mental deterioration, spasticity and muscular rigidity.

MalaCards based summary : Cerebral Amyloid Angiopathy, Itm2b-Related, 1, also known as dementia, familial british, is related to hereditary cerebral amyloid angiopathy and hereditary amyloidosis. An important gene associated with Cerebral Amyloid Angiopathy, Itm2b-Related, 1 is ITM2B (Integral Membrane Protein 2B), and among its related pathways/superpathways are Notch Signaling Pathway (WikiPathways) and Neuroscience. Affiliated tissues include brain, and related phenotypes are spasticity and tremor

Disease Ontology : 12 A cerebral amyloid angiopathy characterized by onset in the 4th to 6th decade of life, progressive mental deterioration, spasticity, muscular rigidity but no tremors, spontaneous movements or sensory changes that has material basis in an autosomal dominant mutation of ITM2B on chromosome 13q14.2.

Wikipedia : 74 Familial British dementia is a form of dementia. It was first reported by Cecil Charles Worster-Drought... more...

More information from OMIM: 176500

Related Diseases for Cerebral Amyloid Angiopathy, Itm2b-Related, 1

Diseases in the Hereditary Cerebral Amyloid Angiopathy family:

Cerebral Amyloid Angiopathy, Cst3-Related Cerebral Amyloid Angiopathy, Itm2b-Related, 2
Cerebral Amyloid Angiopathy, Itm2b-Related, 1 Cerebral Amyloid Angiopathy, App-Related

Diseases related to Cerebral Amyloid Angiopathy, Itm2b-Related, 1 via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 60)
# Related Disease Score Top Affiliating Genes
1 hereditary cerebral amyloid angiopathy 32.1 CST3 APP
2 hereditary amyloidosis 30.5 GSN FURIN
3 cerebral amyloid angiopathy, itm2b-related, 2 30.3 SERPINA3 ITM2C ITM2B FURIN APP
4 dementia 29.2 SERPINI1 SERPINA3 PSEN2 PSEN1 PRNP ITM2B
5 cerebral amyloid angiopathy, cst3-related 29.2 SERPINA3 PSEN2 PSEN1 PRNP ITM2B GSN
6 vascular dementia 29.1 SERPINA3 PSEN1 PRNP CST3 APP
7 amyloidosis 29.0 SERPINA3 PSEN1 PRNP ITM2B GSN FURIN
8 parkinson disease, late-onset 28.9 SERPINI1 SERPINA3 PSEN2 PSEN1 PRNP APP
9 amyotrophic lateral sclerosis 1 28.3 SERPINA3 PSEN2 PSEN1 PRNP CST3 APP
10 alzheimer disease 28.3 TUBB SERPINI1 SERPINA3 PSEN2 PSEN1 PRNP
11 abri amyloidosis 11.0
12 blepharochalasis 10.2 SERPINA3 GSN
13 ataxia and polyneuropathy, adult-onset 10.2
14 amyloidosis, finnish type 10.2 SERPINA3 GSN FURIN
15 normal pressure hydrocephalus 10.1 SERPINA3 PSEN1 APP
16 simultanagnosia 10.1 PSEN2 PSEN1
17 visual agnosia 10.1 PSEN2 PSEN1
18 spasticity 10.1
19 arteriolosclerosis 10.1 SERPINA3 APP
20 alzheimer disease 18 10.1 APP ADAM10
21 early-onset, autosomal dominant alzheimer disease 10.1 PSEN2 PSEN1 APP
22 alzheimer disease 3 10.1 PSEN2 PSEN1 APP
23 polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 1 10.1 PSEN2 PSEN1 APP
24 basal ganglia calcification 10.0 PSEN2 PSEN1 APP
25 mild cognitive impairment 10.0 CST3 APP
26 alzheimer disease 2 10.0 SERPINA3 PSEN2 PSEN1 APP
27 communicating hydrocephalus 10.0 SERPINA3 PSEN2 PSEN1 APP
28 ischiocoxopodopatellar syndrome with or without pulmonary arterial hypertension 10.0 SERPINA3 PSEN2 PSEN1 APP
29 encephalopathy, familial, with neuroserpin inclusion bodies 10.0 SERPINI1 SERPINA3
30 chromosomal duplication syndrome 10.0 SERPINA3 PSEN2 PSEN1 APP
31 chromosomal disease 10.0 SERPINA3 PSEN2 PSEN1 APP
32 suprabulbar paresis, congenital 9.9
33 parkinsonism 9.9
34 lateral sclerosis 9.9
35 spastic paraparesis 9.9
36 vulvovaginitis 9.9
37 pustulosis of palm and sole 9.9
38 psoriasis 9.9
39 brain injury 9.9
40 chronic wasting disease 9.9 SERPINA3 PRNP APP
41 fatal familial insomnia 9.9 SERPINA3 PRNP APP
42 ideomotor apraxia 9.8 PSEN2 PRNP
43 amyloidosis, hereditary, transthyretin-related 9.8 PRNP GSN APP
44 alexia 9.8 PSEN2 PRNP
45 stroke, ischemic 9.8 SERPINI1 SERPINA3 PSEN1 CST3
46 down syndrome 9.8 SERPINA3 PSEN1 APP ADAM10
47 gerstmann syndrome 9.8 PSEN2 PSEN1 PRNP
48 toxic encephalopathy 9.7 SERPINA3 PSEN1 PRNP APP
49 central nervous system disease 9.7 SERPINA3 PSEN1 PRNP APP
50 aphasia 9.6 PSEN2 PSEN1 PRNP APP

Graphical network of the top 20 diseases related to Cerebral Amyloid Angiopathy, Itm2b-Related, 1:



Diseases related to Cerebral Amyloid Angiopathy, Itm2b-Related, 1

Symptoms & Phenotypes for Cerebral Amyloid Angiopathy, Itm2b-Related, 1

Human phenotypes related to Cerebral Amyloid Angiopathy, Itm2b-Related, 1:

31 (show all 7)
# Description HPO Frequency HPO Source Accession
1 spasticity 31 HP:0001257
2 tremor 31 HP:0001337
3 hypertonia 31 HP:0001276
4 rigidity 31 HP:0002063
5 dementia 31 HP:0000726
6 progressive neurologic deterioration 31 HP:0002344
7 cerebral amyloid angiopathy 31 HP:0011970

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Mar-2021)
Neuro:
spasticity
progressive mental deterioration
increased dtr
increased muscle tone
muscular rigidity
more
Misc:
onset between age 40 and 60

Clinical features from OMIM®:

176500 (Updated 05-Mar-2021)

MGI Mouse Phenotypes related to Cerebral Amyloid Angiopathy, Itm2b-Related, 1:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 hematopoietic system MP:0005397 10.15 ADAM10 APP CNMD FURIN GSN IFITM5
2 homeostasis/metabolism MP:0005376 10.13 ADAM10 APP CNMD CST3 GSN IFITM5
3 immune system MP:0005387 10.03 ADAM10 APP CNMD FURIN GSN IFITM5
4 limbs/digits/tail MP:0005371 9.7 APP FURIN IFITM5 ITM2C PRNP PSEN1
5 nervous system MP:0003631 9.7 ADAM10 APP CST3 FURIN GSN ITM2B
6 normal MP:0002873 9.23 ADAM10 APP CNMD FURIN ITM2C PRNP

Drugs & Therapeutics for Cerebral Amyloid Angiopathy, Itm2b-Related, 1

Search Clinical Trials , NIH Clinical Center for Cerebral Amyloid Angiopathy, Itm2b-Related, 1

Genetic Tests for Cerebral Amyloid Angiopathy, Itm2b-Related, 1

Anatomical Context for Cerebral Amyloid Angiopathy, Itm2b-Related, 1

MalaCards organs/tissues related to Cerebral Amyloid Angiopathy, Itm2b-Related, 1:

40
Brain

Publications for Cerebral Amyloid Angiopathy, Itm2b-Related, 1

Articles related to Cerebral Amyloid Angiopathy, Itm2b-Related, 1:

(show top 50) (show all 55)
# Title Authors PMID Year
1
A stop-codon mutation in the BRI gene associated with familial British dementia. 54 6 57 61
10391242 1999
2
Complement activation in chromosome 13 dementias. Similarities with Alzheimer's disease. 61 57
12388551 2002
3
Familial cerebral amyloid angiopathy with nonneuritic amyloid plaque formation. 57
2364266 1990
4
Congophilic angiopathy of the brain: a clinical and pathological report on two siblings. 57
7086452 1982
5
Familial Presenile Dementia with Spastic Paralysis. 6
21610757 1933
6
Expression of BRI2 mRNA and protein in normal human brain and familial British dementia: its relevance to the pathogenesis of disease. 61 54
18282158 2008
7
Expression of BRI, the normal precursor of the amyloid protein of familial British dementia, in human brain. 54 61
14586629 2004
8
Familial British dementia: colocalization of furin and ABri amyloid. 54 61
12883829 2003
9
Expression of mBRI2 in mice. 61 54
12566161 2003
10
Early onset autosomal dominant dementia with ataxia, extrapyramidal features, and epilepsy. 61 54
11914409 2002
11
Proteolytic processing of familial British dementia-associated BRI variants: evidence for enhanced intracellular accumulation of amyloidogenic peptides. 54 61
11709554 2002
12
Regional distribution of amyloid-Bri deposition and its association with neurofibrillary degeneration in familial British dementia. 61 54
11159188 2001
13
A decamer duplication in the 3' region of the BRI gene originates an amyloid peptide that is associated with dementia in a Danish kindred. 61 54
10781099 2000
14
Furin mediates enhanced production of fibrillogenic ABri peptides in familial British dementia. 61 54
10526337 1999
15
The presubiculum is preserved from neurodegenerative changes in Alzheimer's disease. 61
30029687 2018
16
Amyloid and intracellular accumulation of BRI2. 61
28131015 2017
17
Lessons from a Rare Familial Dementia: Amyloid and Beyond. 61
26405694 2015
18
The Familial British Dementia Mutation Promotes Formation of Neurotoxic Cystine Cross-linked Amyloid Bri (ABri) Oligomers. 61
25957407 2015
19
Mitochondrial dysfunction induced by a post-translationally modified amyloid linked to a familial mutation in an alternative model of neurodegeneration. 61
25261792 2014
20
Mouse strain and brain region-specific expression of the glutaminyl cyclases QC and isoQC. 61
24886834 2014
21
[Cerebral amyloid angiopathy]. 61
24998827 2014
22
Benzothiazole aniline tetra(ethylene glycol) and 3-amino-1,2,4-triazole inhibit neuroprotection against amyloid peptides by catalase overexpression in vitro. 61
23968537 2013
23
Abundant pyroglutamate-modified ABri and ADan peptides in extracellular and vascular amyloid deposits in familial British and Danish dementias. 61
23261769 2013
24
Memory deficits of British dementia knock-in mice are prevented by Aβ-precursor protein haploinsufficiency. 61
22514310 2012
25
Aberrant protein structure and diseases of the brain. 61
20960238 2011
26
Memory deficits due to familial British dementia BRI2 mutation are caused by loss of BRI2 function rather than amyloidosis. 61
21048150 2010
27
PYROGLUTAMATE FORMATION AT THE N-TERMINI OF ABRI MOLECULES IN FAMILIAL BRITISH DEMENTIA IS NOT RESTRICTED TO THE CENTRAL NERVOUS SYSTEM. 61
21037969 2010
28
Modeling familial British and Danish dementia. 61
19779737 2010
29
11C-PiB PET ABri imaging in Worster-Drought syndrome (familial British dementia): a case report. 61
20110591 2010
30
TDP-43 pathology in familial British dementia. 61
19283396 2009
31
Genetics and molecular pathogenesis of sporadic and hereditary cerebral amyloid angiopathies. 61
19225789 2009
32
Pyroglutamate formation influences solubility and amyloidogenicity of amyloid peptides. 61
19518051 2009
33
Metal-dependent generation of reactive oxygen species from amyloid proteins implicated in neurodegenerative disease. 61
19021543 2008
34
Molecular chaperons, amyloid and preamyloid lesions in the BRI2 gene-related dementias: a morphological study. 61
16972883 2006
35
Modeling familial British dementia in transgenic mice. 61
16612985 2006
36
Hydrogen peroxide is generated during the very early stages of aggregation of the amyloid peptides implicated in Alzheimer disease and familial British dementia. 61
16141213 2005
37
Insulin-degrading enzyme degrades amyloid peptides associated with British and Danish familial dementia. 61
15913558 2005
38
Metal-mediated formation of fibrillar ABri amyloid. 61
15541488 2004
39
Properties of neurotoxic peptides related to the Bri gene. 61
15182222 2004
40
ABri peptide associated with familial British dementia forms annular and ring-like protofibrillar structures. 61
15185493 2004
41
pH-dependent amyloid and protofibril formation by the ABri peptide of familial British dementia. 61
14583196 2003
42
[Familial non-Alzheimer dementia]. 61
15152461 2003
43
Cerebral amyloid angiopathies: a pathologic, biochemical, and genetic view. 61
14533778 2003
44
Paradigm shifts in Alzheimer's disease and other neurodegenerative disorders: the emerging role of oligomeric assemblies. 61
12210822 2002
45
Sporadic and familial cerebral amyloid angiopathies. 61
12146803 2002
46
Chromosome 13 dementia syndromes as models of neurodegeneration. 61
11791622 2001
47
Systemic amyloid deposits in familial British dementia. 61
11557758 2001
48
Non-fibrillar oligomeric species of the amyloid ABri peptide, implicated in familial British dementia, are more potent at inducing apoptotic cell death than protofibrils or mature fibrils. 61
11419943 2001
49
Effect of the disulfide bridge and the C-terminal extension on the oligomerization of the amyloid peptide ABri implicated in familial British dementia. 61
11297410 2001
50
Familial British dementia with amyloid angiopathy: early clinical, neuropsychological and imaging findings. 61
10775542 2000

Variations for Cerebral Amyloid Angiopathy, Itm2b-Related, 1

ClinVar genetic disease variations for Cerebral Amyloid Angiopathy, Itm2b-Related, 1:

6
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 ITM2B NM_021999.5(ITM2B):c.799T>A (p.Ter267Arg) SNV Pathogenic 5979 rs104894417 13:48835358-48835358 13:48261222-48261222

Expression for Cerebral Amyloid Angiopathy, Itm2b-Related, 1

Search GEO for disease gene expression data for Cerebral Amyloid Angiopathy, Itm2b-Related, 1.

Pathways for Cerebral Amyloid Angiopathy, Itm2b-Related, 1

GO Terms for Cerebral Amyloid Angiopathy, Itm2b-Related, 1

Cellular components related to Cerebral Amyloid Angiopathy, Itm2b-Related, 1 according to GeneCards Suite gene sharing:

(show all 20)
# Name GO ID Score Top Affiliating Genes
1 plasma membrane GO:0005886 10.21 SPPL2B SPPL2A PSEN2 PSEN1 PRNP MICAL1
2 extracellular region GO:0005576 10.16 TUBB SERPINI1 SERPINA3 QPCT ITM2B GSN
3 endosome GO:0005768 10 SPPL2B SPPL2A PSEN1 ITM2B FURIN APP
4 Golgi membrane GO:0000139 9.97 SPPL2B PSEN2 PSEN1 ITM2B FURIN ADAM10
5 cell surface GO:0009986 9.95 PSEN2 PSEN1 PRNP FURIN APP ADAM10
6 endosome membrane GO:0010008 9.87 SPPL2B PSEN1 ITM2B FURIN
7 lysosomal membrane GO:0005765 9.83 SPPL2B SPPL2A PSEN2 PSEN1 ITM2C
8 ficolin-1-rich granule lumen GO:1904813 9.77 QPCT GSN CST3
9 secretory granule lumen GO:0034774 9.76 SERPINI1 SERPINA3 GSN
10 neuromuscular junction GO:0031594 9.72 PSEN2 PSEN1 APP
11 Golgi apparatus GO:0005794 9.65 SPPL2B PSEN2 PSEN1 PRNP ITM2C ITM2B
12 membrane raft GO:0045121 9.63 TUBB PSEN2 PSEN1 PRNP FURIN APP
13 Golgi-associated vesicle GO:0005798 9.58 APP ADAM10
14 dendritic shaft GO:0043198 9.58 PSEN2 PSEN1 APP
15 nuclear envelope lumen GO:0005641 9.56 TUBB APP
16 gamma-secretase complex GO:0070765 9.54 PSEN2 PSEN1
17 integral component of cytoplasmic side of endoplasmic reticulum membrane GO:0071458 9.51 SPPL2B SPPL2A
18 Golgi-associated vesicle membrane GO:0030660 9.5 SPPL2B SPPL2A ITM2B
19 extracellular exosome GO:0070062 9.44 TUBB SPPL2A SERPINI1 SERPINA3 QPCT PRNP
20 ciliary rootlet GO:0035253 9.43 PSEN2 PSEN1 APP

Biological processes related to Cerebral Amyloid Angiopathy, Itm2b-Related, 1 according to GeneCards Suite gene sharing:

(show all 36)
# Name GO ID Score Top Affiliating Genes
1 proteolysis GO:0006508 10.06 SPPL2B SPPL2A PSEN2 PSEN1 FURIN ADAM10
2 negative regulation of apoptotic process GO:0043066 10.04 PSEN2 PSEN1 PRNP MICAL1 ADAM10
3 neutrophil degranulation GO:0043312 9.91 TUBB SERPINA3 QPCT PSEN1 GSN CST3
4 response to oxidative stress GO:0006979 9.84 PSEN1 PRNP APP
5 negative regulation of peptidase activity GO:0010466 9.84 SERPINI1 SERPINA3 CST3 APP
6 Notch signaling pathway GO:0007219 9.83 PSEN2 PSEN1 APP ADAM10
7 protein processing GO:0016485 9.8 PSEN2 PSEN1 FURIN ADAM10
8 negative regulation of protein phosphorylation GO:0001933 9.79 PSEN1 PRNP MICAL1
9 extracellular matrix disassembly GO:0022617 9.77 GSN FURIN ADAM10
10 learning or memory GO:0007611 9.77 PSEN1 PRNP APP
11 cellular response to amyloid-beta GO:1904646 9.75 PSEN1 PRNP APP
12 negative regulation of amyloid precursor protein biosynthetic process GO:0042985 9.67 ITM2C ITM2B
13 regulation of peptidyl-tyrosine phosphorylation GO:0050730 9.66 PRNP APP
14 astrocyte activation GO:0048143 9.66 PSEN1 APP
15 amyloid-beta metabolic process GO:0050435 9.65 PSEN2 PSEN1
16 cellular copper ion homeostasis GO:0006878 9.65 PRNP APP
17 amyloid precursor protein catabolic process GO:0042987 9.65 PSEN2 PSEN1 ADAM10
18 negative regulation of long-term synaptic potentiation GO:1900272 9.64 PRNP APP
19 membrane protein proteolysis GO:0033619 9.64 SPPL2B SPPL2A
20 actin filament depolymerization GO:0030042 9.63 MICAL1 GSN
21 amyloid fibril formation GO:1990000 9.63 GSN APP
22 neuron projection maintenance GO:1990535 9.63 PSEN1 PRNP APP
23 negative regulation of endopeptidase activity GO:0010951 9.63 SERPINI1 SERPINA3 PRNP FURIN CST3 APP
24 cellular process GO:0009987 9.62 TUBB APP
25 negative regulation of low-density lipoprotein receptor activity GO:1905598 9.61 PSEN1 APP
26 Notch receptor processing GO:0007220 9.61 PSEN2 PSEN1
27 amyloid-beta formation GO:0034205 9.61 PSEN2 PSEN1 ADAM10
28 modulation of age-related behavioral decline GO:0090647 9.58 PSEN1 PRNP APP
29 positive regulation of amyloid fibril formation GO:1905908 9.57 PSEN1 APP
30 regulation of epidermal growth factor-activated receptor activity GO:0007176 9.56 PSEN1 APP
31 membrane protein intracellular domain proteolysis GO:0031293 9.56 SPPL2B SPPL2A PSEN2 PSEN1
32 astrocyte activation involved in immune response GO:0002265 9.55 PSEN1 APP
33 smooth endoplasmic reticulum calcium ion homeostasis GO:0051563 9.51 PSEN1 APP
34 Notch receptor processing, ligand-dependent GO:0035333 9.5 PSEN2 PSEN1 ADAM10
35 cellular protein metabolic process GO:0044267 9.5 PSEN1 ITM2B GSN FURIN CST3 APP
36 membrane protein ectodomain proteolysis GO:0006509 9.02 SPPL2B SPPL2A PSEN2 PSEN1 ADAM10

Molecular functions related to Cerebral Amyloid Angiopathy, Itm2b-Related, 1 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 peptidase activity GO:0008233 9.85 SPPL2B SPPL2A PSEN2 PSEN1 FURIN ADAM10
2 peptidase inhibitor activity GO:0030414 9.71 SERPINI1 SERPINA3 CST3 APP
3 protease binding GO:0002020 9.63 PRNP FURIN CST3
4 serine-type endopeptidase inhibitor activity GO:0004867 9.62 SERPINI1 SERPINA3 FURIN APP
5 endopeptidase activity GO:0004175 9.56 PSEN2 PSEN1 FURIN ADAM10
6 amyloid-beta binding GO:0001540 9.46 PRNP ITM2C ITM2B CST3
7 growth factor receptor binding GO:0070851 9.43 PSEN1 APP
8 aspartic-type endopeptidase activity GO:0004190 9.26 SPPL2B SPPL2A PSEN2 PSEN1
9 aspartic endopeptidase activity, intramembrane cleaving GO:0042500 8.92 SPPL2B SPPL2A PSEN2 PSEN1

Sources for Cerebral Amyloid Angiopathy, Itm2b-Related, 1

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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