IMD36
MCID: IMM088
MIFTS: 45

Immunodeficiency 36 (IMD36)

Categories: Genetic diseases, Immune diseases, Respiratory diseases

Aliases & Classifications for Immunodeficiency 36

MalaCards integrated aliases for Immunodeficiency 36:

Name: Immunodeficiency 36 57 12 73 29 6 15 71
Imd36 57 12 73
Activated Phosphoinositide 3-Kinase Delta Syndrome 2 12
Immunodeficiency, Type 36 39

Characteristics:

OMIM®:

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

Miscellaneous:
onset in early childhood
four patients from 3 families have been reported (last curated september 2014)


HPO:

31
immunodeficiency 36:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0111949
OMIM® 57 616005
OMIM Phenotypic Series 57 PS300755
MeSH 44 D007153
UMLS 71 C4014934

Summaries for Immunodeficiency 36

OMIM® : 57 IMD36 is a primary immunodeficiency with a highly heterogeneous clinical phenotype, characterized primarily by recurrent respiratory tract infections, lymphoproliferation, and antibody deficiency. Other features include growth retardation, mild neurodevelopmental delay, and autoimmunity. The major complication is development of B-cell lymphoma (Elkaim et al., 2016). (616005) (Updated 05-Mar-2021)

MalaCards based summary : Immunodeficiency 36, also known as imd36, is related to immunodeficiency 50 and felty syndrome. An important gene associated with Immunodeficiency 36 is PIK3R1 (Phosphoinositide-3-Kinase Regulatory Subunit 1), and among its related pathways/superpathways are Class I MHC mediated antigen processing and presentation and TNFR1 Pathway. Affiliated tissues include b cells and t cells, and related phenotypes are autoimmunity and neurodevelopmental delay

Disease Ontology : 12 A combined T cell and B cell immunodeficiency characterized by recurrent respiratory tract infections, lymphoproliferation, and antibody deficiency that has material basis in heterozygous mutation in PIK3R1 on chromosome 5q13.1.

UniProtKB/Swiss-Prot : 73 Immunodeficiency 36: A primary immunodeficiency characterized by impaired B-cell function, hypogammaglobulinemia and recurrent infections.

Related Diseases for Immunodeficiency 36

Diseases related to Immunodeficiency 36 via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 203)
# Related Disease Score Top Affiliating Genes
1 immunodeficiency 50 10.1 CD8A B3GAT1
2 felty syndrome 10.1 CD8A B3GAT1
3 uterine corpus cancer 10.0 PIK3R1 AKT1
4 pericardial tuberculosis 10.0 NELFCD CD4
5 tuberculoid leprosy 10.0 NELFCD CD4
6 hypersplenism 10.0 PIK3R1 CD4
7 cowden syndrome 1 9.9 PIK3R1 PIK3CD AKT1
8 cowden syndrome 9.9 PIK3R1 PIK3CD AKT1
9 cork-handlers' disease 9.9 CD8A CD4
10 necrotic uveal melanoma 9.9 CD8A CD4
11 early yaws 9.9 CD8A CD4
12 ventilation pneumonitis 9.9 CD8A CD4
13 diffuse infiltrative lymphocytosis syndrome 9.9 CD8A CD4
14 latent syphilis 9.9 CD8A CD4
15 syphilis 9.9 CD8A CD4
16 type 1 diabetes mellitus 23 9.9 CD8A CD4
17 autoimmune lymphoproliferative syndrome, type iia 9.9 CD8A CD4
18 parapsoriasis 9.9 CD8A CD4
19 gastroduodenitis 9.9 CD8A CD4
20 duodenitis 9.9 CD8A CD4
21 primary syphilis 9.9 CD8A CD4
22 norwegian scabies 9.9 CD8A CD4
23 bird fancier's lung 9.9 CD8A CD4
24 skin sarcoidosis 9.9 CD8A CD4
25 metal allergy 9.9 CD8A CD4
26 variola major 9.9 CD8A CD4
27 follicular mucinosis 9.9 CD8A CD4
28 tertiary syphilis 9.9 CD8A CD4
29 spongiotic dermatitis 9.9 CD8A CD4
30 acute retinal necrosis syndrome 9.9 CD8A CD4
31 cerebral lymphoma 9.9 CD8A CD4
32 cerebritis 9.9 CD8A CD4
33 invasive malignant thymoma 9.9 CD8A CD4
34 west nile encephalitis 9.9 CD8A CD4
35 granulomatous hepatitis 9.9 CD8A CD4
36 exanthema subitum 9.9 CD8A CD4
37 viral exanthem 9.9 CD8A CD4
38 secondary syphilis 9.9 CD8A CD4
39 oral hairy leukoplakia 9.9 CD8A CD4
40 superficial basal cell carcinoma 9.9 CD8A CD4
41 esophageal candidiasis 9.9 CD8A CD4
42 parotid disease 9.9 CD8A CD4
43 myeloid and lymphoid neoplasms associated with fgfr1 abnormalities 9.9 CD8A CD4
44 ulcerative stomatitis 9.9 CD8A CD4
45 granulomatous dermatitis 9.9 CD8A CD4
46 west nile fever 9.9 CD8A CD4
47 neurosarcoidosis 9.9 CD8A CD4
48 retinitis pigmentosa 46 9.9 CD8A CD4
49 pneumonic tularemia 9.9 CD8A CD4
50 tularemia 9.9 CD8A CD4

Graphical network of the top 20 diseases related to Immunodeficiency 36:



Diseases related to Immunodeficiency 36

Symptoms & Phenotypes for Immunodeficiency 36

Human phenotypes related to Immunodeficiency 36:

31 (show all 13)
# Description HPO Frequency HPO Source Accession
1 autoimmunity 31 very rare (1%) HP:0002960
2 neurodevelopmental delay 31 very rare (1%) HP:0012758
3 chronic diarrhea 31 very rare (1%) HP:0002028
4 bronchiectasis 31 very rare (1%) HP:0002110
5 chronic lymphatic leukemia 31 very rare (1%) HP:0005550
6 b-cell lymphoma 31 very rare (1%) HP:0012191
7 splenomegaly 31 HP:0001744
8 recurrent respiratory infections 31 HP:0002205
9 short stature 31 HP:0004322
10 immunodeficiency 31 HP:0002721
11 lymphopenia 31 HP:0001888
12 recurrent bacterial infections 31 HP:0002718
13 decreased circulating antibody level 31 HP:0004313

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Mar-2021)
Abdomen Spleen:
splenomegaly

Growth Height:
short stature

Growth Other:
poor growth

Respiratory Airways:
bronchiectasis (in some patients)

Neoplasia:
classic hodgkin lymphoma (in some patients)
b-cell lymphoma (in some patients)
chronic lymphocytic leukemia (rare)

Respiratory:
recurrent respiratory infections
upper respiratory tract lymphoid hyperplasia

Immunology:
recurrent bacterial infections
hypogammaglobulinemia
primary immunodeficiency
b-cell lymphopenia
decreased memory b cells
more
Abdomen Gastrointestinal:
chronic diarrhea (in some patients)

Neurologic Central Nervous System:
neurodevelopmental delay, mild (in some patients)

Clinical features from OMIM®:

616005 (Updated 05-Mar-2021)

GenomeRNAi Phenotypes related to Immunodeficiency 36 according to GeneCards Suite gene sharing:

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased viability GR00221-A-1 9.28 AKT1 PIK3CD PIK3R1
2 Decreased viability GR00221-A-2 9.28 AKT1
3 Decreased viability GR00221-A-3 9.28 AKT1 PIK3CD PIK3R1
4 Decreased viability GR00221-A-4 9.28 AKT1
5 Decreased viability GR00249-S 9.28 AKT1

Drugs & Therapeutics for Immunodeficiency 36

Search Clinical Trials , NIH Clinical Center for Immunodeficiency 36

Genetic Tests for Immunodeficiency 36

Genetic tests related to Immunodeficiency 36:

# Genetic test Affiliating Genes
1 Immunodeficiency 36 29 PIK3R1

Anatomical Context for Immunodeficiency 36

MalaCards organs/tissues related to Immunodeficiency 36:

40
B Cells, T Cells

Publications for Immunodeficiency 36

Articles related to Immunodeficiency 36:

# Title Authors PMID Year
1
Clinical and immunologic phenotype associated with activated phosphoinositide 3-kinase δ syndrome 2: A cohort study. 57 6
27221134 2016
2
Dominant Splice Site Mutations in PIK3R1 Cause Hyper IgM Syndrome, Lymphadenopathy and Short Stature. 6 57
27076228 2016
3
Altered germinal center reaction and abnormal B cell peripheral maturation in PI3KR1-mutated patients presenting with HIGM-like phenotype. 57 6
25939554 2015
4
Heterozygous splice mutation in PIK3R1 causes human immunodeficiency with lymphoproliferation due to dominant activation of PI3K. 6 57
25488983 2014
5
A human immunodeficiency caused by mutations in the PIK3R1 gene. 57
25133428 2014
6
Predominance of sterile immunoglobulin transcripts in a female phenotypically resembling Bruton's agammaglobulinemia. 6
7705412 1995
7
Primary immunodeficiencies : Report of 33 Pediatric Tunisian cases. 61
27704518 2016
8
[Intravenous immunoglobulin (Endobulin) clinical tolerance: prospective therapeutic follow-up of 142 adults and children]. 61
12888171 2003

Variations for Immunodeficiency 36

ClinVar genetic disease variations for Immunodeficiency 36:

6 (show top 50) (show all 87)
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 PIK3R1 NM_181523.3(PIK3R1):c.1425+1G>T SNV Pathogenic 156008 rs587777709 5:67589663-67589663 5:68293835-68293835
2 PIK3R1 NM_181523.3(PIK3R1):c.1425+1G>C SNV Pathogenic 156009 rs587777709 5:67589663-67589663 5:68293835-68293835
3 PIK3R1 NM_181523.3(PIK3R1):c.1425+2T>G SNV Pathogenic 446498 rs1554051075 5:67589664-67589664 5:68293836-68293836
4 PIK3R1 NM_181523.3(PIK3R1):c.1425+1G>A SNV Pathogenic 372467 rs587777709 5:67589663-67589663 5:68293835-68293835
5 PIK3R1 NM_181523.3(PIK3R1):c.1425+2_1425+3del Deletion Pathogenic 446499 rs1554051067 5:67589663-67589664 5:68293835-68293836
6 PIK3R1 NM_181523.3(PIK3R1):c.1425+2T>A SNV Pathogenic 446497 rs1554051075 5:67589664-67589664 5:68293836-68293836
7 PIK3R1 NM_181523.3(PIK3R1):c.1300-1G>C SNV Pathogenic 446500 rs1554051033 5:67589536-67589536 5:68293708-68293708
8 PIK3R1 NM_181523.3(PIK3R1):c.1710dup (p.Ile571fs) Duplication Pathogenic 571336 rs1561299903 5:67591115-67591116 5:68295287-68295288
9 PIK3R1 NM_181523.3(PIK3R1):c.1425+1G>A SNV Pathogenic 372467 rs587777709 5:67589663-67589663 5:68293835-68293835
10 PIK3R1 NM_181523.3(PIK3R1):c.1381C>T (p.Arg461Ter) SNV Pathogenic 376258 rs1057519838 5:67589618-67589618 5:68293790-68293790
11 PIK3R1 NM_181523.3(PIK3R1):c.1425+1G>C SNV Pathogenic 156009 rs587777709 5:67589663-67589663 5:68293835-68293835
12 PIK3R1 NM_181523.3(PIK3R1):c.965del (p.Met322fs) Deletion Pathogenic 648899 rs1580260232 5:67588135-67588135 5:68292307-68292307
13 PIK3R1 NM_181523.3(PIK3R1):c.1404_1425+4del Deletion Pathogenic 935112 5:67589638-67589663 5:68293810-68293835
14 PIK3R1 NM_181523.3(PIK3R1):c.1425+1G>T SNV Pathogenic 156008 rs587777709 5:67589663-67589663 5:68293835-68293835
15 PIK3R1 NM_181523.3(PIK3R1):c.1945C>T (p.Arg649Trp) SNV Pathogenic 60763 rs397515453 5:67592129-67592129 5:68296301-68296301
16 PIK3R1 NM_181523.3(PIK3R1):c.1945C>T (p.Arg649Trp) SNV Likely pathogenic 60763 rs397515453 5:67592129-67592129 5:68296301-68296301
17 PIK3R1 NM_181523.3(PIK3R1):c.1300-2A>G SNV Likely pathogenic 827732 rs1403833564 5:67589535-67589535 5:68293707-68293707
18 PIK3R1 NM_181523.3(PIK3R1):c.1462A>G (p.Asn488Asp) SNV Uncertain significance 859537 5:67590400-67590400 5:68294572-68294572
19 PIK3R1 NM_181523.3(PIK3R1):c.1921_1931del (p.Lys641fs) Deletion Uncertain significance 861979 5:67592103-67592113 5:68296275-68296285
20 PIK3R1 NM_181523.3(PIK3R1):c.747G>C (p.Lys249Asn) SNV Uncertain significance 863370 5:67576468-67576468 5:68280640-68280640
21 PIK3R1 NM_181523.3(PIK3R1):c.563G>A (p.Arg188His) SNV Uncertain significance 624051 rs148059720 5:67575490-67575490 5:68279662-68279662
22 PIK3R1 NM_181523.3(PIK3R1):c.752C>T (p.Ser251Phe) SNV Uncertain significance 834213 5:67576473-67576473 5:68280645-68280645
23 PIK3R1 NM_181523.3(PIK3R1):c.514G>A (p.Val172Met) SNV Uncertain significance 835242 5:67575441-67575441 5:68279613-68279613
24 PIK3R1 NM_181523.3(PIK3R1):c.722A>T (p.Gln241Leu) SNV Uncertain significance 841166 5:67576443-67576443 5:68280615-68280615
25 PIK3R1 NM_181523.3(PIK3R1):c.257C>T (p.Thr86Ile) SNV Uncertain significance 843492 5:67522760-67522760 5:68226932-68226932
26 PIK3R1 NM_181523.3(PIK3R1):c.251C>G (p.Pro84Arg) SNV Uncertain significance 846266 5:67522754-67522754 5:68226926-68226926
27 PIK3R1 NM_181523.3(PIK3R1):c.2168G>A (p.Arg723Lys) SNV Uncertain significance 847379 5:67593422-67593422 5:68297594-68297594
28 PIK3R1 NM_181523.3(PIK3R1):c.1508G>T (p.Arg503Leu) SNV Uncertain significance 848444 5:67590446-67590446 5:68294618-68294618
29 PIK3R1 NM_181523.3(PIK3R1):c.1844A>T (p.Asp615Val) SNV Uncertain significance 849630 5:67592028-67592028 5:68296200-68296200
30 PIK3R1 NM_181523.3(PIK3R1):c.1300-10A>T SNV Uncertain significance 849969 5:67589527-67589527 5:68293699-68293699
31 PIK3R1 NM_181523.3(PIK3R1):c.348G>A (p.Pro116=) SNV Uncertain significance 851179 5:67569231-67569231 5:68273403-68273403
32 PIK3R1 NM_181523.3(PIK3R1):c.332A>G (p.Gln111Arg) SNV Uncertain significance 853571 5:67522835-67522835 5:68227007-68227007
33 PIK3R1 NM_181523.3(PIK3R1):c.347C>T (p.Pro116Leu) SNV Uncertain significance 855460 5:67569230-67569230 5:68273402-68273402
34 PIK3R1 NM_181523.3(PIK3R1):c.686C>T (p.Ser229Leu) SNV Uncertain significance 855725 5:67576407-67576407 5:68280579-68280579
35 PIK3R1 NM_181523.3(PIK3R1):c.676C>G (p.Leu226Val) SNV Uncertain significance 856837 5:67576397-67576397 5:68280569-68280569
36 PIK3R1 NM_181523.3(PIK3R1):c.485G>T (p.Arg162Leu) SNV Uncertain significance 857677 5:67569824-67569824 5:68273996-68273996
37 PIK3R1 NM_181523.3(PIK3R1):c.2011_2012del (p.Val671fs) Microsatellite Uncertain significance 950410 5:67593262-67593263 5:68297434-68297435
38 PIK3R1 NM_181523.3(PIK3R1):c.200G>A (p.Gly67Glu) SNV Uncertain significance 951482 5:67522703-67522703 5:68226875-68226875
39 PIK3R1 NM_181523.3(PIK3R1):c.334+4_334+9del Deletion Uncertain significance 961973 5:67522841-67522846 5:68227013-68227018
40 PIK3R1 NM_181523.3(PIK3R1):c.2132A>G (p.Asn711Ser) SNV Uncertain significance 964329 5:67593386-67593386 5:68297558-68297558
41 PIK3R1 NM_181523.3(PIK3R1):c.553G>A (p.Ala185Thr) SNV Uncertain significance 967011 5:67575480-67575480 5:68279652-68279652
42 PIK3R1 NM_181523.3(PIK3R1):c.1861G>A (p.Glu621Lys) SNV Uncertain significance 968750 5:67592045-67592045 5:68296217-68296217
43 PIK3R1 NM_181523.3(PIK3R1):c.399C>G (p.Ile133Met) SNV Uncertain significance 969295 5:67569282-67569282 5:68273454-68273454
44 PIK3R1 NM_181523.3(PIK3R1):c.661C>T (p.Gln221Ter) SNV Uncertain significance 982699 5:67576382-67576382 5:68280554-68280554
45 PIK3R1 NM_181523.3(PIK3R1):c.967_978del (p.Asn323_Met326del) Deletion Uncertain significance 940717 5:67588133-67588144 5:68292305-68292316
46 PIK3R1 NM_181523.3(PIK3R1):c.562C>T (p.Arg188Cys) SNV Uncertain significance 943204 5:67575489-67575489 5:68279661-68279661
47 PIK3R1 NM_181523.3(PIK3R1):c.889G>A (p.Glu297Lys) SNV Uncertain significance 946102 5:67576807-67576807 5:68280979-68280979
48 PIK3R1 NM_181523.3(PIK3R1):c.917-1513G>T SNV Uncertain significance 625995 rs144312303 5:67586574-67586574 5:68290746-68290746
49 PIK3R1 NM_181523.3(PIK3R1):c.427+4A>C SNV Uncertain significance 642350 rs1380740486 5:67569314-67569314 5:68273486-68273486
50 PIK3R1 NM_181523.3(PIK3R1):c.554C>T (p.Ala185Val) SNV Uncertain significance 645272 rs1264292969 5:67575481-67575481 5:68279653-68279653

Expression for Immunodeficiency 36

Search GEO for disease gene expression data for Immunodeficiency 36.

Pathways for Immunodeficiency 36

Pathways related to Immunodeficiency 36 according to GeneCards Suite gene sharing:

(show top 50) (show all 108)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.3 PIK3R1 PIK3CD CD8A CD4 AKT1
2
Show member pathways
12.95 PIK3R1 PIK3CD CD4 AKT1
3
Show member pathways
12.82 PIK3R1 PIK3CD CD4 AKT1
4
Show member pathways
12.8 PIK3R1 CD8A CD4 AKT1
5
Show member pathways
12.75 PIK3R1 PIK3CD CD4 AKT1
6
Show member pathways
12.54 PIK3R1 PIK3CD AKT1
7
Show member pathways
12.49 PIK3R1 PIK3CD AKT1
8
Show member pathways
12.48 PIK3R1 PIK3CD AKT1
9
Show member pathways
12.46 PIK3R1 PIK3CD AKT1
10
Show member pathways
12.46 PIK3R1 PIK3CD CD4 AKT1
11
Show member pathways
12.43 PIK3R1 PIK3CD AKT1
12
Show member pathways
12.41 PIK3R1 PIK3CD AKT1
13
Show member pathways
12.4 PIK3R1 PIK3CD AKT1
14
Show member pathways
12.39 PIK3R1 PIK3CD AKT1
15
Show member pathways
12.37 PIK3R1 CD4 AKT1
16
Show member pathways
12.36 PIK3R1 PIK3CD AKT1
17
Show member pathways
12.36 PIK3R1 PIK3CD CD4 AKT1
18
Show member pathways
12.33 PIK3R1 PIK3CD AKT1
19
Show member pathways
12.32 PIK3R1 PIK3CD AKT1
20
Show member pathways
12.32 PIK3R1 PIK3CD AKT1
21 12.32 PIK3R1 PIK3CD AKT1
22
Show member pathways
12.32 PIK3R1 PIK3CD AKT1
23
Show member pathways
12.31 PIK3R1 PIK3CD AKT1
24
Show member pathways
12.31 PIK3R1 PIK3CD AKT1
25
Show member pathways
12.31 PIK3R1 PIK3CD AKT1
26
Show member pathways
12.3 PIK3R1 CD4 AKT1
27
Show member pathways
12.27 PIK3R1 PIK3CD AKT1
28
Show member pathways
12.25 PIK3R1 PIK3CD AKT1
29 12.24 PIK3R1 PIK3CD AKT1
30
Show member pathways
12.23 PIK3R1 PIK3CD AKT1
31
Show member pathways
12.23 PIK3R1 PIK3CD AKT1
32 12.21 PIK3R1 PIK3CD AKT1
33
Show member pathways
12.21 PIK3R1 PIK3CD AKT1
34
Show member pathways
12.14 PIK3R1 PIK3CD AKT1
35
Show member pathways
12.12 PIK3R1 PIK3CD AKT1
36
Show member pathways
12.12 PIK3R1 CD4 AKT1
37
Show member pathways
12.11 PIK3R1 PIK3CD AKT1
38
Show member pathways
12.1 PIK3R1 PIK3CD CD8A CD4 AKT1
39
Show member pathways
12.08 PIK3R1 PIK3CD AKT1
40
Show member pathways
12.08 PIK3R1 PIK3CD AKT1
41
Show member pathways
12.07 PIK3R1 PIK3CD AKT1
42 12.06 PIK3R1 PIK3CD AKT1
43
Show member pathways
12.05 PIK3R1 PIK3CD AKT1
44
Show member pathways
12.04 PIK3R1 PIK3CD AKT1
45
Show member pathways
12.03 PIK3R1 PIK3CD AKT1
46 12.01 PIK3R1 PIK3CD AKT1
47 12 PIK3R1 PIK3CD AKT1
48 11.99 PIK3R1 PIK3CD AKT1
49
Show member pathways
11.98 PIK3R1 PIK3CD AKT1
50 11.98 PIK3R1 PIK3CD AKT1

GO Terms for Immunodeficiency 36

Cellular components related to Immunodeficiency 36 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 phosphatidylinositol 3-kinase complex GO:0005942 8.62 PIK3R1 PIK3CD

Biological processes related to Immunodeficiency 36 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 T cell receptor signaling pathway GO:0050852 9.54 PIK3R1 PIK3CD CD4
2 epidermal growth factor receptor signaling pathway GO:0007173 9.46 PIK3R1 AKT1
3 cytokine-mediated signaling pathway GO:0019221 9.46 PIK3R1 PIK3CD CD4 AKT1
4 T cell differentiation GO:0030217 9.43 PIK3CD CD4
5 positive regulation of glucose import GO:0046326 9.4 PIK3R1 AKT1
6 insulin-like growth factor receptor signaling pathway GO:0048009 9.32 PIK3R1 AKT1
7 cellular response to granulocyte macrophage colony-stimulating factor stimulus GO:0097011 9.26 CD4 AKT1
8 T cell activation GO:0042110 9.13 PIK3CD CD8A CD4
9 phosphatidylinositol 3-kinase signaling GO:0014065 8.8 PIK3R1 PIK3CD AKT1

Molecular functions related to Immunodeficiency 36 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 coreceptor activity GO:0015026 8.62 CD8A CD4

Sources for Immunodeficiency 36

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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