T B NK SCID
MCID: SVR098
MIFTS: 44

Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Positive (T B NK SCID)

Categories: Blood diseases, Genetic diseases, Immune diseases, Rare diseases

Aliases & Classifications for Severe Combined Immunodeficiency, Autosomal Recessive, T...

MalaCards integrated aliases for Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Positive:

Name: Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Positive 57 12 29 6 40
Severe Combined Immunodeficiency, T Cell-Negative, B-Cell/natural Killer-Cell Positive 57 13
Severe Combined Immunodeficiency Autosomal Recessive T-Cell-Negative/b-Cell-Positive/nk-Cell-Positive 74
Severe Combined Immunodeficiency Autosomal Recessive T Cell-Negative/b Cell-Positive/nk Cell-Positive 74
Severe Combined Immunodeficiency Autosomal Recessive T-Cell Negative/b-Cell Positive/nk-Cell Positive 74
Severe Combined Immunodeficiency, T-Cell Negative, B-Cell/natural Killer Cell-Positive Type 57
Scid, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Positive 57
Autosomal Recessive T Cell-Negative, B-Cell Positive, Nk Cell-Positive Scid 12
T-B+ Severe Combined Immunodeficiency Due to Il-7ralpha Deficiency 59
T-B+ Severe Combined Immunodeficiency Due to Cd45 Deficiency 59
T-B+ Scid Due to Il-7ralpha Deficiency 59
T-B+ Scid Due to Cd45 Deficiency 59
T B Nk Scid 74
Scidbnk 74

Characteristics:

Orphanet epidemiological data:

59

OMIM:

57
Inheritance:
autosomal recessive

Miscellaneous:
presents at 2 to 3 months of age
death within several months if untreated


HPO:

32
severe combined immunodeficiency, autosomal recessive, t cell-negative, b cell-positive, nk cell-positive:
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 59  
Rare immunological diseases


External Ids:

Disease Ontology 12 DOID:0090014
OMIM 57 608971
MeSH 44 D016511
ICD10 33 D81.2
ICD10 via Orphanet 34 D81.2
UMLS via Orphanet 73 C1837028
MedGen 42 C1837028

Summaries for Severe Combined Immunodeficiency, Autosomal Recessive, T...

UniProtKB/Swiss-Prot : 74 Severe combined immunodeficiency autosomal recessive T-cell-negative/B-cell-positive/NK-cell-positive: A form of severe combined immunodeficiency (SCID), a genetically and clinically heterogeneous group of rare congenital disorders characterized by impairment of both humoral and cell-mediated immunity, leukopenia, and low or absent antibody levels. Patients present in infancy recurrent, persistent infections by opportunistic organisms. The common characteristic of all types of SCID is absence of T-cell-mediated cellular immunity due to a defect in T-cell development.

MalaCards based summary : Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Positive, also known as severe combined immunodeficiency, t cell-negative, b-cell/natural killer-cell positive, is related to severe combined immunodeficiency and severe combined immunodeficiency, autosomal recessive, t cell-negative, b cell-positive, nk cell-negative. An important gene associated with Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Positive is IL7R (Interleukin 7 Receptor), and among its related pathways/superpathways are T cell receptor signaling pathway and JAK-STAT signaling pathway (KEGG). Affiliated tissues include b cells, t cells and nk cells, and related phenotypes are splenomegaly and hepatomegaly

Disease Ontology : 12 A severe combined immunodeficiency characterized by being T cell-negative, B cell-positive and natural killer cell-positive and that has material basis in homozygous or compound heterozygous mutation in the IL7R gene on chromosome 5p13 or the CD45 gene on chromosome 1q31.

More information from OMIM: 608971

Related Diseases for Severe Combined Immunodeficiency, Autosomal Recessive, T...

Diseases related to Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Positive via text searches within MalaCards or GeneCards Suite gene sharing:

(showing 15, show less)
# Related Disease Score Top Affiliating Genes
1 severe combined immunodeficiency 29.6 PTPRC IL7R CD3D
2 severe combined immunodeficiency, autosomal recessive, t cell-negative, b cell-positive, nk cell-negative 12.1
3 jak3-deficient severe combined immunodeficiency 11.6
4 interleukin-7 receptor alpha deficiency 11.6
5 combined t cell and b cell immunodeficiency 10.3
6 dyskeratosis congenita, x-linked 10.0
7 immunodeficiency 19 10.0
8 exanthem 10.0
9 dyskeratosis congenita 10.0
10 hoyeraal hreidarsson syndrome 10.0
11 immunodeficiency 18 9.9 PTPRC CD3D
12 immunodeficiency 17 9.8 PTPRC CD3D
13 t cell deficiency 9.7 PTPRC IL7R
14 demyelinating disease 9.6 PTPRC IL7R
15 multiple sclerosis 9.4 PTPRC IL7R

Graphical network of the top 20 diseases related to Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Positive:



Diseases related to Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Positive

Symptoms & Phenotypes for Severe Combined Immunodeficiency, Autosomal Recessive, T...

Human phenotypes related to Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Positive:

32 (showing 11, show less)
# Description HPO Frequency HPO Source Accession
1 splenomegaly 32 HP:0001744
2 hepatomegaly 32 HP:0002240
3 diarrhea 32 HP:0002014
4 otitis media 32 HP:0000388
5 eczema 32 HP:0000964
6 recurrent opportunistic infections 32 HP:0005390
7 lymphadenopathy 32 HP:0002716
8 decrease in t cell count 32 HP:0005403
9 oral ulcer 32 HP:0000155
10 severe combined immunodeficiency 32 HP:0004430
11 failure to thrive secondary to recurrent infections 32 HP:0008866

Symptoms via clinical synopsis from OMIM:

57
Abdomen Spleen:
splenomegaly

Abdomen Gastrointestinal:
diarrhea

Immunology:
lymphadenopathy
frequent opportunistic infections
normal or elevated numbers of functional natural killer cells (nk)
normal or elevated number of peripheral blood b cells
absent peripheral blood t cells
more
Skin Nails Hair Skin:
dermatitis

Respiratory Lung:
recurrent acute pneumonia

Abdomen Liver:
hepatomegaly

Head And Neck Ears:
otitis media

Growth Other:
failure to thrive secondary to recurrent infections

Head And Neck Mouth:
candida albicans infection
thrush

Clinical features from OMIM:

608971

Drugs & Therapeutics for Severe Combined Immunodeficiency, Autosomal Recessive, T...

Search Clinical Trials , NIH Clinical Center for Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Positive

Genetic Tests for Severe Combined Immunodeficiency, Autosomal Recessive, T...

Genetic tests related to Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Positive:

# Genetic test Affiliating Genes
1 Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Positive 29 IL7R PTPRC

Anatomical Context for Severe Combined Immunodeficiency, Autosomal Recessive, T...

MalaCards organs/tissues related to Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Positive:

41
B Cells, T Cells, Nk Cells, Bone, Bone Marrow

Publications for Severe Combined Immunodeficiency, Autosomal Recessive, T...

Articles related to Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Positive:

(showing 51, show less)
# Title Authors PMID Year
1
Defective IL7R expression in T(-)B(+)NK(+) severe combined immunodeficiency. 38 8 71
9843216 1998
2
CD45-deficient severe combined immunodeficiency caused by uniparental disomy. 8 71
22689986 2012
3
A deletion in the gene encoding the CD45 antigen in a patient with SCID. 8 71
11145714 2001
4
A partial deficiency of interleukin-7R alpha is sufficient to abrogate T-cell development and cause severe combined immunodeficiency. 8 71
11023514 2000
5
Mutations in the tyrosine phosphatase CD45 gene in a child with severe combined immunodeficiency disease. 71
10700239 2000
6
Severe combined immunodeficiency with abnormalities in expression of the common leucocyte antigen, CD45. 8
9068311 1997
7
Hematopoietic Stem Cell Transplant for the Treatment of X-MAID. 38
31139601 2019
8
JAK3 mutations in Italian patients affected by SCID: New molecular aspects of a long-known gene. 38
30032486 2018
9
Corrigendum: A Novel Homozygous JAK3 Mutation Leading to T-B+NK- SCID in Two Brazilian Patients. 38
30515370 2018
10
A Novel Homozygous JAK3 Mutation Leading to T-B+NK- SCID in Two Brazilian Patients. 38
30177960 2018
11
A novel pathogenic frameshift variant of CD3E gene in two T-B+ NK+ SCID patients from Turkey. 38
28597365 2017
12
Identification of Heterozygous Single- and Multi-exon Deletions in IL7R by Whole Exome Sequencing. 38
27807805 2017
13
Clinical, Laboratory, and Molecular Findings for 63 Patients With Severe Combined Immunodeficiency: A Decade´s Experience. 38
28266921 2017
14
SCID pigs: An emerging large animal NK model. 38
29152615 2017
15
Novel compound heterozygous mutations in a Japanese girl with Janus kinase 3 deficiency. 38
27593409 2016
16
Partial loss of interleukin 2 receptor gamma function in pigs provides mechanistic insights for the study of human immunodeficiency syndrome. 38
27463006 2016
17
Recombinase Activating Gene 1 Deficiencies Without Omenn Syndrome May Also Present With Eosinophilia and Bone Marrow Fibrosis. 38
27081423 2016
18
Deep intronic mis-splicing mutation in JAK3 gene underlies T-B+NK- severe combined immunodeficiency phenotype. 38
26769277 2016
19
Not All SCID Pigs Are Created Equally: Two Independent Mutations in the Artemis Gene Cause SCID in Pigs. 38
26320255 2015
20
Cytoreductive conditioning for severe combined immunodeficiency--help or hindrance? 38
26099343 2015
21
Severe combined immunodeficiency in Serbia and Montenegro between years 1986 and 2010: a single-center experience. 38
24481607 2014
22
Rapid Flow cytometric prenatal diagnosis of primary immunodeficiency (PID) disorders. 38
24535004 2014
23
Severe combined immunodeficiency caused by a new homozygous RAG1 mutation with progressive encephalopathy. 38
24333136 2014
24
SCID patients with ARTEMIS vs RAG deficiencies following HCT: increased risk of late toxicity in ARTEMIS-deficient SCID. 38
24144642 2014
25
Atypical combined immunodeficiency due to Artemis defect: a case presenting as hyperimmunoglobulin M syndrome and with LGLL. 38
23911390 2013
26
Variable presentation of primary immune deficiency: two cases with CD3 gamma deficiency presenting with only autoimmunity. 38
23590417 2013
27
Two SCID cases with Cernunnos-XLF deficiency successfully treated by hematopoietic stem cell transplantation. 38
21535335 2012
28
Transcription factor zinc finger and BTB domain 1 is essential for lymphocyte development. 38
22753936 2012
29
Novel mutatıons and diverse clinical phenotypes in recombinase-activating gene 1 deficiency. 38
22424479 2012
30
Genotype, phenotype, and outcomes of nine patients with T-B+NK+ SCID. 38
21883749 2011
31
Hyperbilirubinemia and rapid fatal hepatic failure in severe combined immunodeficiency caused by adenosine deaminase deficiency (ADA-SCID). 38
21271505 2011
32
Diverse phenotypic and genotypic presentation of RAG1 mutations in two cases with SCID. 38
19458910 2009
33
Disseminated bacille Calmette-Guérin in Iranian children with severe combined immunodeficiency. 38
19403320 2009
34
Molecular analysis of T-B-NK+ severe combined immunodeficiency and Omenn syndrome cases in Saudi Arabia. 38
19912631 2009
35
Recombinase-activating gene 1 immunodeficiency: different immunological phenotypes in three siblings. 38
19243569 2009
36
Severe combined immunodeficiency (SCID) and attention deficit hyperactivity disorder (ADHD) associated with a Coronin-1A mutation and a chromosome 16p11.2 deletion. 38
19097825 2009
37
A novel missense RAG-1 mutation results in T-B-NK+ SCID in Athabascan-speaking Dine Indians from the Canadian Northwest Territories. 38
18701881 2009
38
Novel RAG2 mutation in a patient with T- B- severe combined immunodeficiency and disseminated BCG disease. 38
20128425 2009
39
Mutations in CHD7 in patients with CHARGE syndrome cause T-B + natural killer cell + severe combined immune deficiency and may cause Omenn-like syndrome. 38
18505430 2008
40
Defective Artemis nuclease is characterized by coding joints with microhomology in long palindromic-nucleotide stretches. 38
18034425 2007
41
GvHD-associated cytokine polymorphisms do not associate with Omenn syndrome rather than T-B- SCID in patients with defects in RAG genes. 38
17572155 2007
42
Severe combined immune deficiency in an adenosine deaminase-deficient patient. 38
16724639 2006
43
A new type of radiosensitive T-B-NK+ severe combined immunodeficiency caused by a LIG4 mutation. 38
16357942 2006
44
Radiosensitive SCID patients with Artemis gene mutations show a complete B-cell differentiation arrest at the pre-B-cell receptor checkpoint in bone marrow. 38
12406895 2003
45
A novel DKC1 mutation, severe combined immunodeficiency (T+B-NK- SCID) and bone marrow transplantation in an infant with Hoyeraal-Hreidarsson syndrome. 38
12437656 2002
46
A founder mutation in Artemis, an SNM1-like protein, causes SCID in Athabascan-speaking Native Americans. 38
12055248 2002
47
B cell function after haploidentical in utero bone marrow transplantation in a patient with severe combined immunodeficiency. 38
11979315 2002
48
Bone marrow transplantation for T-B- severe combined immunodeficiency disease in Athabascan-speaking native Americans. 38
11360109 2001
49
Rapid protein-based assays for the diagnosis of T-B+ severe combined immunodeficiency. 38
11260071 2001
50
Of genes and phenotypes: the immunological and molecular spectrum of combined immune deficiency. Defects of the gamma(c)-JAK3 signaling pathway as a model. 38
11213805 2000
51
Mutations in the gene for the IL-7 receptor result in T(-)B(+)NK(+) severe combined immunodeficiency disease. 38
10899029 2000

Variations for Severe Combined Immunodeficiency, Autosomal Recessive, T...

ClinVar genetic disease variations for Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Positive:

6 (showing 167, show less)
# Gene Variation Type Significance SNP ID GRCh37 Pos GRCh38 Pos
1 IL7R NM_002185.5(IL7R): c.753dup (p.Ser252fs) duplication Pathogenic rs1554067182 5:35874597-35874597 5:35874495-35874495
2 IL7R NC_000005.9: g.(?_35867388)_(35867585_?)del deletion Pathogenic 5:35867388-35867585 5:35867286-35867483
3 IL7R NM_002185.5(IL7R): c.291_294del (p.Lys97fs) deletion Pathogenic rs1554066684 5:35867477-35867480 5:35867375-35867378
4 PTPRC PTPRC, IVS13DS, G-A, +1 single nucleotide variant Pathogenic
5 PTPRC PTPRC, 6-BP DEL, NT1168 deletion Pathogenic
6 IL7R NM_002185.5(IL7R): c.538-1G> A single nucleotide variant Pathogenic 5:35873581-35873581 5:35873479-35873479
7 IL7R NM_002185.5(IL7R): c.651G> A (p.Trp217Ter) single nucleotide variant Pathogenic rs104893893 5:35873695-35873695 5:35873593-35873593
8 IL7R NM_002185.5(IL7R): c.394C> T (p.Pro132Ser) single nucleotide variant Pathogenic rs104893894 5:35871172-35871172 5:35871070-35871070
9 IL7R NM_002185.5(IL7R): c.353G> A (p.Cys118Tyr) single nucleotide variant Pathogenic rs193922641 5:35867539-35867539 5:35867437-35867437
10 PTPRC NM_002838.5(PTPRC): c.1624A> T (p.Lys542Ter) single nucleotide variant Pathogenic rs398122383 1:198687396-198687396 1:198718267-198718267
11 IL7R NM_002185.5(IL7R): c.333T> A (p.Val111=) single nucleotide variant Pathogenic rs199641706 5:35867519-35867519 5:35867417-35867417
12 IL7R NM_002185.5(IL7R): c.361dup (p.Ile121fs) duplication Pathogenic rs869312857 5:35867547-35867547 5:35867445-35867445
13 IL7R deletion Pathogenic 5:35862009-35867620 :0-0
14 IL7R NM_002185.5(IL7R): c.221+2T> G single nucleotide variant Pathogenic rs200044623 5:35861094-35861094 5:35860992-35860992
15 IL7R NM_002185.5(IL7R): c.437_438del (p.Phe146fs) deletion Pathogenic 5:35871215-35871216 5:35871113-35871114
16 PTPRC NM_002838.5(PTPRC): c.2295C> G (p.Tyr765Ter) single nucleotide variant Pathogenic 1:198704273-198704273 1:198735144-198735144
17 IL7R NM_002185.5(IL7R): c.704C> G (p.Ser235Ter) single nucleotide variant Pathogenic 5:35873748-35873748 5:35873646-35873646
18 PTPRC NM_002838.5(PTPRC): c.2362_2363delinsT (p.Arg788fs) indel Pathogenic 1:198704340-198704341 1:198735211-198735212
19 IL7R NM_002185.5(IL7R): c.355A> T (p.Lys119Ter) single nucleotide variant Pathogenic 5:35867541-35867541 5:35867439-35867439
20 IL7R NM_002185.5(IL7R): c.675C> A (p.Tyr225Ter) single nucleotide variant Pathogenic 5:35873719-35873719 5:35873617-35873617
21 IL7R NC_000005.9: g.(?_35860934)_(35871335_?)del deletion Pathogenic 5:35860934-35871335 5:35860832-35871233
22 IL7R NM_002185.5(IL7R): c.83-1G> A single nucleotide variant Likely pathogenic 5:35860953-35860953 5:35860851-35860851
23 PTPRC NM_002838.5(PTPRC): c.2403+1G> A single nucleotide variant Likely pathogenic rs1553243550 1:198704382-198704382 1:198735253-198735253
24 IL7R NM_002185.5(IL7R): c.662G> T (p.Ser221Ile) single nucleotide variant Conflicting interpretations of pathogenicity rs587778405 5:35873706-35873706 5:35873604-35873604
25 IL7R NM_002185.5(IL7R): c.83-2A> T single nucleotide variant Conflicting interpretations of pathogenicity rs886060531 5:35860952-35860952 5:35860850-35860850
26 IL7R NM_002185.5(IL7R): c.214G> C (p.Glu72Gln) single nucleotide variant Conflicting interpretations of pathogenicity rs148001159 5:35861085-35861085 5:35860983-35860983
27 PTPRC NM_002838.5(PTPRC): c.3073-6A> G single nucleotide variant Conflicting interpretations of pathogenicity rs191867796 1:198719615-198719615 1:198750486-198750486
28 PTPRC NM_002838.5(PTPRC): c.1568A> T (p.Glu523Val) single nucleotide variant Conflicting interpretations of pathogenicity rs116464756 1:198687340-198687340 1:198718211-198718211
29 PTPRC NM_002838.5(PTPRC): c.2526C> T (p.Ser842=) single nucleotide variant Conflicting interpretations of pathogenicity rs373509702 1:198711120-198711120 1:198741991-198741991
30 IL7R NM_002185.5(IL7R): c.778G> A (p.Ala260Thr) single nucleotide variant Conflicting interpretations of pathogenicity rs147153824 5:35874622-35874622 5:35874520-35874520
31 PTPRC NM_002838.5(PTPRC): c.3670G> A (p.Val1224Ile) single nucleotide variant Conflicting interpretations of pathogenicity rs150672767 1:198725059-198725059 1:198755930-198755930
32 PTPRC NM_002838.5(PTPRC): c.982A> G (p.Ile328Val) single nucleotide variant Uncertain significance rs41314039 1:198677339-198677339 1:198708210-198708210
33 PTPRC NM_002838.5(PTPRC): c.1297G> A (p.Asp433Asn) single nucleotide variant Uncertain significance rs140403368 1:198685816-198685816 1:198716687-198716687
34 PTPRC NM_002838.5(PTPRC): c.2395A> T (p.Ile799Phe) single nucleotide variant Uncertain significance rs185420520 1:198704373-198704373 1:198735244-198735244
35 PTPRC NM_002838.5(PTPRC): c.782G> T (p.Gly261Val) single nucleotide variant Uncertain significance rs142941257 1:198675959-198675959 1:198706830-198706830
36 PTPRC NM_002838.5(PTPRC): c.1456A> G (p.Ser486Gly) single nucleotide variant Uncertain significance rs1432775291 1:198687228-198687228 1:198718099-198718099
37 PTPRC NM_002838.5(PTPRC): c.2543C> T (p.Pro848Leu) single nucleotide variant Uncertain significance rs765136427 1:198711137-198711137 1:198742008-198742008
38 PTPRC NM_002838.5(PTPRC): c.2044C> G (p.Arg682Gly) single nucleotide variant Uncertain significance rs1553243145 1:198701498-198701498 1:198732369-198732369
39 PTPRC NM_002838.5(PTPRC): c.2779C> G (p.Pro927Ala) single nucleotide variant Uncertain significance rs376357337 1:198713264-198713264 1:198744135-198744135
40 PTPRC NM_002838.5(PTPRC): c.2793C> A (p.Asn931Lys) single nucleotide variant Uncertain significance rs149625776 1:198713278-198713278 1:198744149-198744149
41 PTPRC NM_002838.5(PTPRC): c.658+6A> G single nucleotide variant Uncertain significance rs61757807 1:198672507-198672507 1:198703378-198703378
42 PTPRC NM_002838.5(PTPRC): c.768G> C (p.Glu256Asp) single nucleotide variant Uncertain significance rs780129489 1:198675945-198675945 1:198706816-198706816
43 PTPRC NM_002838.5(PTPRC): c.352C> A (p.Pro118Thr) single nucleotide variant Uncertain significance rs1553237882 1:198668746-198668746 1:198699617-198699617
44 PTPRC NM_002838.5(PTPRC): c.985G> A (p.Glu329Lys) single nucleotide variant Uncertain significance rs2274367 1:198677342-198677342 1:198708213-198708213
45 PTPRC NM_002838.5(PTPRC): c.920A> G (p.Gln307Arg) single nucleotide variant Uncertain significance rs1553239425 1:198677277-198677277 1:198708148-198708148
46 PTPRC NM_002838.5(PTPRC): c.2998G> A (p.Asp1000Asn) single nucleotide variant Uncertain significance rs145944629 1:198718604-198718604 1:198749475-198749475
47 PTPRC NM_002838.5(PTPRC): c.1471A> C (p.Met491Leu) single nucleotide variant Uncertain significance rs910573647 1:198687243-198687243 1:198718114-198718114
48 IL7R NM_002185.5(IL7R): c.617G> A (p.Arg206Gln) single nucleotide variant Uncertain significance rs193922644 5:35873661-35873661 5:35873559-35873559
49 IL7R NM_002185.5(IL7R): c.81T> A (p.Asn27Lys) single nucleotide variant Uncertain significance rs753451294 5:35857160-35857160 5:35857058-35857058
50 IL7R NM_002185.5(IL7R): c.1096T> C (p.Ser366Pro) single nucleotide variant Uncertain significance rs201671392 5:35876304-35876304 5:35876202-35876202
51 IL7R NM_002185.5(IL7R): c.1357T> C (p.Ser453Pro) single nucleotide variant Uncertain significance rs141919625 5:35876565-35876565 5:35876463-35876463
52 PTPRC NM_002838.5(PTPRC): c.535G> A (p.Ala179Thr) single nucleotide variant Uncertain significance 1:198671611-198671611 1:198702482-198702482
53 PTPRC NM_002838.5(PTPRC): c.847A> G (p.Ile283Val) single nucleotide variant Uncertain significance 1:198676024-198676024 1:198706895-198706895
54 PTPRC NM_002838.5(PTPRC): c.1003A> G (p.Thr335Ala) single nucleotide variant Uncertain significance 1:198677360-198677360 1:198708231-198708231
55 PTPRC NM_002838.5(PTPRC): c.1321C> A (p.Leu441Met) single nucleotide variant Uncertain significance 1:198685840-198685840 1:198716711-198716711
56 PTPRC NM_002838.5(PTPRC): c.1357A> T (p.Thr453Ser) single nucleotide variant Uncertain significance 1:198685876-198685876 1:198716747-198716747
57 PTPRC NM_002838.5(PTPRC): c.1441A> G (p.Lys481Glu) single nucleotide variant Uncertain significance 1:198685960-198685960 1:198716831-198716831
58 PTPRC NM_002838.5(PTPRC): c.2495T> C (p.Leu832Pro) single nucleotide variant Uncertain significance 1:198711089-198711089 1:198741960-198741960
59 PTPRC NM_002838.5(PTPRC): c.260C> T (p.Pro87Leu) single nucleotide variant Uncertain significance 1:198666000-198666000 1:198696871-198696871
60 PTPRC NM_002838.5(PTPRC): c.2834A> G (p.Glu945Gly) single nucleotide variant Uncertain significance 1:198713319-198713319 1:198744190-198744190
61 PTPRC NM_002838.5(PTPRC): c.2305A> G (p.Met769Val) single nucleotide variant Uncertain significance 1:198704283-198704283 1:198735154-198735154
62 PTPRC NM_002838.5(PTPRC): c.2607G> A (p.Met869Ile) single nucleotide variant Uncertain significance 1:198711406-198711406 1:198742277-198742277
63 PTPRC NM_002838.5(PTPRC): c.700A> G (p.Asn234Asp) single nucleotide variant Uncertain significance 1:198675877-198675877 1:198706748-198706748
64 PTPRC NM_002838.5(PTPRC): c.995C> T (p.Thr332Ile) single nucleotide variant Uncertain significance 1:198677352-198677352 1:198708223-198708223
65 PTPRC NM_002838.5(PTPRC): c.1062T> G (p.Ile354Met) single nucleotide variant Uncertain significance 1:198678844-198678844 1:198709715-198709715
66 PTPRC NM_002838.5(PTPRC): c.1556A> G (p.His519Arg) single nucleotide variant Uncertain significance 1:198687328-198687328 1:198718199-198718199
67 PTPRC NM_002838.5(PTPRC): c.2044C> T (p.Arg682Cys) single nucleotide variant Uncertain significance 1:198701498-198701498 1:198732369-198732369
68 PTPRC NM_002838.5(PTPRC): c.2320C> T (p.Arg774Trp) single nucleotide variant Uncertain significance rs200672643 1:198704298-198704298 1:198735169-198735169
69 PTPRC NM_002838.5(PTPRC): c.3404A> C (p.Lys1135Thr) single nucleotide variant Uncertain significance 1:198721796-198721796 1:198752667-198752667
70 PTPRC NM_002838.5(PTPRC): c.3844G> C (p.Glu1282Gln) single nucleotide variant Uncertain significance 1:198725233-198725233 1:198756104-198756104
71 IL7R NM_002185.5(IL7R): c.760G> A (p.Ala254Thr) single nucleotide variant Uncertain significance rs137868226 5:35874604-35874604 5:35874502-35874502
72 IL7R NM_002185.5(IL7R): c.152C> T (p.Ser51Leu) single nucleotide variant Uncertain significance rs138482569 5:35861023-35861023 5:35860921-35860921
73 PTPRC NM_002838.5(PTPRC): c.3545T> C (p.Leu1182Ser) single nucleotide variant Uncertain significance rs114970039 1:198723433-198723433 1:198754304-198754304
74 IL7R NM_002185.5(IL7R): c.232G> A (p.Val78Met) single nucleotide variant Uncertain significance 5:35867418-35867418 5:35867316-35867316
75 IL7R NM_002185.5(IL7R): c.1180G> A (p.Gly394Ser) single nucleotide variant Uncertain significance 5:35876388-35876388 5:35876286-35876286
76 IL7R NM_002185.5(IL7R): c.1165G> C (p.Asp389His) single nucleotide variant Uncertain significance rs143596606 5:35876373-35876373 5:35876271-35876271
77 IL7R NM_002185.5(IL7R): c.695A> G (p.Asn232Ser) single nucleotide variant Uncertain significance rs199714011 5:35873739-35873739 5:35873637-35873637
78 IL7R NM_002185.5(IL7R): c.433G> A (p.Asp145Asn) single nucleotide variant Uncertain significance 5:35871211-35871211 5:35871109-35871109
79 IL7R NM_002185.5(IL7R): c.600G> A (p.Met200Ile) single nucleotide variant Uncertain significance 5:35873644-35873644 5:35873542-35873542
80 IL7R NM_002185.5(IL7R): c.1043A> G (p.Asn348Ser) single nucleotide variant Uncertain significance 5:35876251-35876251 5:35876149-35876149
81 IL7R NM_002185.5(IL7R): c.1130G> T (p.Cys377Phe) single nucleotide variant Uncertain significance 5:35876338-35876338 5:35876236-35876236
82 IL7R NM_002185.5(IL7R): c.706+3A> G single nucleotide variant Uncertain significance 5:35873753-35873753 5:35873651-35873651
83 PTPRC NM_002838.5(PTPRC): c.3179T> C (p.Met1060Thr) single nucleotide variant Uncertain significance 1:198719727-198719727 1:198750598-198750598
84 PTPRC NM_002838.5(PTPRC): c.3425A> C (p.Gln1142Pro) single nucleotide variant Uncertain significance 1:198721817-198721817 1:198752688-198752688
85 PTPRC NM_002838.5(PTPRC): c.3428T> C (p.Val1143Ala) single nucleotide variant Uncertain significance 1:198721820-198721820 1:198752691-198752691
86 PTPRC NM_002838.5(PTPRC): c.3607G> T (p.Ala1203Ser) single nucleotide variant Uncertain significance 1:198723495-198723495 1:198754366-198754366
87 IL7R NM_002185.5(IL7R): c.156_157delinsTT (p.Gln52_His53delinsHisTyr) indel Uncertain significance 5:35861027-35861028 5:35860925-35860926
88 IL7R NM_002185.5(IL7R): c.164T> C (p.Leu55Pro) single nucleotide variant Uncertain significance 5:35861035-35861035 5:35860933-35860933
89 IL7R NM_002185.5(IL7R): c.340A> G (p.Lys114Glu) single nucleotide variant Uncertain significance 5:35867526-35867526 5:35867424-35867424
90 PTPRC NM_002838.5(PTPRC): c.421G> C (p.Gly141Arg) single nucleotide variant Uncertain significance 1:198668815-198668815 1:198699686-198699686
91 IL7R NM_002185.5(IL7R): c.1003T> C (p.Ser335Pro) single nucleotide variant Uncertain significance 5:35876211-35876211 5:35876109-35876109
92 PTPRC NM_002838.5(PTPRC): c.120G> C (p.Met40Ile) single nucleotide variant Uncertain significance 1:198665860-198665860 1:198696731-198696731
93 PTPRC NM_002838.5(PTPRC): c.125G> T (p.Ser42Ile) single nucleotide variant Uncertain significance 1:198665865-198665865 1:198696736-198696736
94 PTPRC NM_002838.5(PTPRC): c.337G> T (p.Ala113Ser) single nucleotide variant Uncertain significance 1:198668731-198668731 1:198699602-198699602
95 PTPRC NM_002838.5(PTPRC): c.347A> C (p.Gln116Pro) single nucleotide variant Uncertain significance 1:198668741-198668741 1:198699612-198699612
96 PTPRC NM_002838.5(PTPRC): c.377C> T (p.Thr126Ile) single nucleotide variant Uncertain significance 1:198668771-198668771 1:198699642-198699642
97 PTPRC NM_002838.5(PTPRC): c.395C> G (p.Ala132Gly) single nucleotide variant Uncertain significance 1:198668789-198668789 1:198699660-198699660
98 PTPRC NM_002838.5(PTPRC): c.547C> T (p.Arg183Cys) single nucleotide variant Uncertain significance 1:198671623-198671623 1:198702494-198702494
99 PTPRC NM_002838.5(PTPRC): c.712G> C (p.Asp238His) single nucleotide variant Uncertain significance 1:198675889-198675889 1:198706760-198706760
100 PTPRC NM_002838.5(PTPRC): c.835G> A (p.Ala279Thr) single nucleotide variant Uncertain significance 1:198676012-198676012 1:198706883-198706883
101 PTPRC NM_002838.5(PTPRC): c.965G> C (p.Cys322Ser) single nucleotide variant Uncertain significance 1:198677322-198677322 1:198708193-198708193
102 PTPRC NM_002838.5(PTPRC): c.1189A> T (p.Ile397Phe) single nucleotide variant Uncertain significance 1:198682099-198682099 1:198712970-198712970
103 PTPRC NM_002838.5(PTPRC): c.1391T> C (p.Ile464Thr) single nucleotide variant Uncertain significance 1:198685910-198685910 1:198716781-198716781
104 PTPRC NM_002838.5(PTPRC): c.1458C> G (p.Ser486Arg) single nucleotide variant Uncertain significance 1:198687230-198687230 1:198718101-198718101
105 PTPRC NM_002838.5(PTPRC): c.1591A> C (p.Asn531His) single nucleotide variant Uncertain significance 1:198687363-198687363 1:198718234-198718234
106 PTPRC NM_002838.5(PTPRC): c.1642A> G (p.Thr548Ala) single nucleotide variant Uncertain significance 1:198687414-198687414 1:198718285-198718285
107 PTPRC NM_002838.5(PTPRC): c.1678G> A (p.Asp560Asn) single nucleotide variant Uncertain significance 1:198691563-198691563 1:198722434-198722434
108 PTPRC NM_002838.5(PTPRC): c.1721A> G (p.Tyr574Cys) single nucleotide variant Uncertain significance 1:198697469-198697469 1:198728340-198728340
109 PTPRC NM_002838.5(PTPRC): c.1865A> G (p.Asp622Gly) single nucleotide variant Uncertain significance 1:198700746-198700746 1:198731617-198731617
110 PTPRC NM_002838.5(PTPRC): c.2007A> G (p.Ile669Met) single nucleotide variant Uncertain significance 1:198701461-198701461 1:198732332-198732332
111 PTPRC NM_002838.5(PTPRC): c.2034G> T (p.Gln678His) single nucleotide variant Uncertain significance 1:198701488-198701488 1:198732359-198732359
112 PTPRC NM_002838.5(PTPRC): c.2208C> G (p.Phe736Leu) single nucleotide variant Uncertain significance 1:198703485-198703485 1:198734356-198734356
113 PTPRC NM_002838.5(PTPRC): c.2309A> G (p.Glu770Gly) single nucleotide variant Uncertain significance 1:198704287-198704287 1:198735158-198735158
114 PTPRC NM_002838.5(PTPRC): c.2318C> G (p.Thr773Ser) single nucleotide variant Uncertain significance 1:198704296-198704296 1:198735167-198735167
115 IL7R NM_002185.5(IL7R): c.706+5G> C single nucleotide variant Uncertain significance 5:35873755-35873755 5:35873653-35873653
116 IL7R NM_002185.5(IL7R): c.777G> A (p.Leu259=) single nucleotide variant Uncertain significance 5:35874621-35874621 5:35874519-35874519
117 IL7R NM_002185.5(IL7R): c.916T> A (p.Cys306Ser) single nucleotide variant Uncertain significance 5:35876124-35876124 5:35876022-35876022
118 PTPRC NM_002838.5(PTPRC): c.1659+6A> C single nucleotide variant Uncertain significance 1:198687437-198687437 1:198718308-198718308
119 PTPRC NM_002838.5(PTPRC): c.659-3C> T single nucleotide variant Uncertain significance 1:198673598-198673598 1:198704469-198704469
120 PTPRC NM_002838.5(PTPRC): c.1450+8A> G single nucleotide variant Uncertain significance 1:198685977-198685977 1:198716848-198716848
121 IL7R NM_002185.5(IL7R): c.593C> T (p.Ala198Val) single nucleotide variant Uncertain significance 5:35873637-35873637 5:35873535-35873535
122 PTPRC NM_002838.5(PTPRC): c.2142+7A> G single nucleotide variant Uncertain significance 1:198701692-198701692 1:198732563-198732563
123 IL7R NM_002185.5(IL7R): c.83-2A> G single nucleotide variant Uncertain significance 5:35860952-35860952 5:35860850-35860850
124 PTPRC NM_002838.5(PTPRC): c.1599G> C (p.Ser533=) single nucleotide variant Likely benign rs372045826 1:198687371-198687371 1:198718242-198718242
125 PTPRC NM_002838.5(PTPRC): c.837G> A (p.Ala279=) single nucleotide variant Likely benign rs137909392 1:198676014-198676014 1:198706885-198706885
126 PTPRC NM_002838.5(PTPRC): c.1864+8T> C single nucleotide variant Likely benign rs201509539 1:198698308-198698308 1:198729179-198729179
127 PTPRC NM_002838.5(PTPRC): c.1033+9A> G single nucleotide variant Likely benign rs376985465 1:198677399-198677399 1:198708270-198708270
128 IL7R NM_002185.5(IL7R): c.519G> A (p.Lys173=) single nucleotide variant Likely benign rs143661008 5:35871297-35871297 5:35871195-35871195
129 IL7R NM_002185.5(IL7R): c.51C> T (p.Val17=) single nucleotide variant Likely benign rs138981776 5:35857130-35857130 5:35857028-35857028
130 PTPRC NM_002838.5(PTPRC): c.646A> C (p.Thr216Pro) single nucleotide variant Likely benign rs148561683 1:198672489-198672489 1:198703360-198703360
131 PTPRC NM_002838.5(PTPRC): c.2628G> A (p.Glu876=) single nucleotide variant Likely benign rs531164121 1:198711427-198711427 1:198742298-198742298
132 PTPRC NM_002838.5(PTPRC): c.3914G> C (p.Gly1305Ala) single nucleotide variant Likely benign rs148331492 1:198725303-198725303 1:198756174-198756174
133 PTPRC NM_002838.5(PTPRC): c.2709C> T (p.Ile903=) single nucleotide variant Likely benign rs1553244701 1:198713194-198713194 1:198744065-198744065
134 IL7R NM_002185.5(IL7R): c.509G> A (p.Arg170His) single nucleotide variant Likely benign rs149161098 5:35871287-35871287 5:35871185-35871185
135 IL7R NM_002185.5(IL7R): c.1007A> G (p.Glu336Gly) single nucleotide variant Likely benign rs770237630 5:35876215-35876215 5:35876113-35876113
136 PTPRC NM_002838.5(PTPRC): c.3126C> T (p.Thr1042=) single nucleotide variant Likely benign rs375079291 1:198719674-198719674 1:198750545-198750545
137 PTPRC NM_002838.5(PTPRC): c.3510-3T> C single nucleotide variant Likely benign rs142096878 1:198723395-198723395 1:198754266-198754266
138 IL7R NM_002185.5(IL7R): c.339A> C (p.Glu113Asp) single nucleotide variant Likely benign rs11567735 5:35867525-35867525 5:35867423-35867423
139 PTPRC NM_002838.5(PTPRC): c.1737G> T (p.Leu579=) single nucleotide variant Likely benign rs112713919 1:198697485-198697485 1:198728356-198728356
140 PTPRC NM_002838.5(PTPRC): c.132A> G (p.Pro44=) single nucleotide variant Benign/Likely benign rs115797104 1:198665872-198665872 1:198696743-198696743
141 PTPRC NM_002838.5(PTPRC): c.1268C> T (p.Thr423Ile) single nucleotide variant Benign/Likely benign rs6696162 1:198682178-198682178 1:198713049-198713049
142 PTPRC NM_002838.5(PTPRC): c.177C> G (p.Pro59=) single nucleotide variant Benign/Likely benign rs17612648 1:198665917-198665917 1:198696788-198696788
143 IL7R NM_002185.5(IL7R): c.561G> A (p.Lys187=) single nucleotide variant Benign/Likely benign rs11567764 5:35873605-35873605 5:35873503-35873503
144 IL7R NM_002185.5(IL7R): c.153G> A (p.Ser51=) single nucleotide variant Benign/Likely benign rs149235072 5:35861024-35861024 5:35860922-35860922
145 IL7R NM_002185.5(IL7R): c.1231A> G (p.Thr411Ala) single nucleotide variant Benign/Likely benign rs115316501 5:35876439-35876439 5:35876337-35876337
146 IL7R NM_002185.5(IL7R): c.1241C> T (p.Thr414Met) single nucleotide variant Benign/Likely benign rs2229232 5:35876449-35876449 5:35876347-35876347
147 IL7R NM_002185.5(IL7R): c.1043A> C (p.Asn348Thr) single nucleotide variant Benign rs41270321 5:35876251-35876251 5:35876149-35876149
148 PTPRC NM_002838.5(PTPRC): c.3402C> T (p.Pro1134=) single nucleotide variant Benign rs61757805 1:198721794-198721794 1:198752665-198752665
149 PTPRC NM_002838.5(PTPRC): c.367G> C (p.Asp123His) single nucleotide variant Benign rs41269905 1:198668761-198668761 1:198699632-198699632
150 PTPRC NM_002838.5(PTPRC): c.886A> C (p.Ile296Leu) single nucleotide variant Benign rs2230606 1:198676063-198676063 1:198706934-198706934
151 PTPRC NM_002838.5(PTPRC): c.1029G> A (p.Gln343=) single nucleotide variant Benign rs41314043 1:198677386-198677386 1:198708257-198708257
152 PTPRC NM_002838.5(PTPRC): c.1710T> A (p.His570Gln) single nucleotide variant Benign rs12136658 1:198691595-198691595 1:198722466-198722466
153 IL7R NM_002185.5(IL7R): c.1200G> A (p.Val400=) single nucleotide variant Benign rs140634356 5:35876408-35876408 5:35876306-35876306
154 IL7R NM_002185.5(IL7R): c.197T> C (p.Ile66Thr) single nucleotide variant Benign rs1494558 5:35861068-35861068 5:35860966-35860966
155 IL7R NM_002185.5(IL7R): c.412G> A (p.Val138Ile) single nucleotide variant Benign rs1494555 5:35871190-35871190 5:35871088-35871088
156 PTPRC NM_002838.5(PTPRC): c.1704A> G (p.Leu568=) single nucleotide variant Benign rs148811970 1:198691589-198691589 1:198722460-198722460
157 PTPRC NM_002838.5(PTPRC): c.3780T> C (p.Asn1260=) single nucleotide variant Benign rs1058191 1:198725169-198725169 1:198756040-198756040
158 IL7R NM_002185.5(IL7R): c.132C> T (p.Ser44=) single nucleotide variant Benign rs11567704 5:35861003-35861003 5:35860901-35860901
159 PTPRC NM_002838.5(PTPRC): c.1052A> G (p.Asn351Ser) single nucleotide variant Benign rs79141749 1:198678834-198678834 1:198709705-198709705
160 PTPRC NM_002838.5(PTPRC): c.577A> G (p.Thr193Ala) single nucleotide variant Benign rs4915154 1:198671653-198671653 1:198702524-198702524
161 PTPRC NM_002838.5(PTPRC): c.1584G> A (p.Leu528=) single nucleotide variant Benign rs148497366 1:198687356-198687356 1:198718227-198718227
162 CD3D NM_000732.4(CD3D): c.451-18T> G single nucleotide variant Benign rs2276424 11:118209960-118209960 11:118339245-118339245
163 PTPRC NM_002838.5(PTPRC): c.154A> G (p.Thr52Ala) single nucleotide variant Benign rs114764326 1:198665894-198665894 1:198696765-198696765
164 IL7R NM_002185.5(IL7R): c.134A> C (p.Gln45Pro) single nucleotide variant no interpretation for the single variant 5:35861005-35861005 5:35860903-35860903
165 IL7R NM_002185.5(IL7R): c.160T> C (p.Ser54Pro) single nucleotide variant no interpretation for the single variant 5:35861031-35861031 5:35860929-35860929
166 IL7R NM_002185.5(IL7R): c.245G> T (p.Cys82Phe) single nucleotide variant no interpretation for the single variant rs757797163 5:35867431-35867431 5:35867329-35867329
167 IL7R NM_002185.5(IL7R): c.537+1G> A single nucleotide variant no interpretation for the single variant rs777878144 5:35871316-35871316 5:35871214-35871214

UniProtKB/Swiss-Prot genetic disease variations for Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Positive:

74 (showing 1, show less)
# Symbol AA change Variation ID SNP ID
1 IL7R p.Pro132Ser VAR_034870 rs104893894

Expression for Severe Combined Immunodeficiency, Autosomal Recessive, T...

Search GEO for disease gene expression data for Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Positive.

Pathways for Severe Combined Immunodeficiency, Autosomal Recessive, T...

Pathways related to Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Positive according to GeneCards Suite gene sharing:

(showing 16, show less)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.09 PTPRC CD3D
2
Show member pathways
11.92 PTPRC IL7R
3
Show member pathways
11.92 PTPRC CD3D
4
Show member pathways
11.87 PTPRC CD3D
5
Show member pathways
11.84 PTPRC CD3D
6 11.52 PTPRC IL7R
7
Show member pathways
11.47 PTPRC CD3D
8
Show member pathways
11.44 PTPRC CD3D
9 11.42 PTPRC IL7R
10 11.35 IL7R CD3D
11 11.22 PTPRC IL7R
12 11.14 PTPRC CD3D
13 11.1 PTPRC CD3D
14 11.02 PTPRC IL7R
15 10.68 PTPRC IL7R
16 10.37 PTPRC IL7R CD3D

GO Terms for Severe Combined Immunodeficiency, Autosomal Recessive, T...

Cellular components related to Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Positive according to GeneCards Suite gene sharing:

(showing 2, show less)
# Name GO ID Score Top Affiliating Genes
1 clathrin-coated vesicle membrane GO:0030665 8.96 IL7R CD3D
2 external side of plasma membrane GO:0009897 8.8 PTPRC IL7R CD3D

Biological processes related to Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Positive according to GeneCards Suite gene sharing:

(showing 7, show less)
# Name GO ID Score Top Affiliating Genes
1 cell surface receptor signaling pathway GO:0007166 9.43 PTPRC IL7R CD3D
2 membrane organization GO:0061024 9.4 IL7R CD3D
3 T cell receptor signaling pathway GO:0050852 9.37 PTPRC CD3D
4 B cell proliferation GO:0042100 9.32 PTPRC IL7R
5 positive thymic T cell selection GO:0045059 9.16 PTPRC CD3D
6 negative regulation of T cell mediated cytotoxicity GO:0001915 8.96 PTPRC IL7R
7 T cell differentiation GO:0030217 8.8 PTPRC IL7R CD3D

Sources for Severe Combined Immunodeficiency, Autosomal Recessive, T...

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
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33 ICD10
34 ICD10 via Orphanet
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44 MeSH
45 MESH via Orphanet
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57 OMIM
58 OMIM via Orphanet
62 PubMed
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69 SNOMED-CT via HPO
70 TGDB
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73 UMLS via Orphanet
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