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RGD DISEASE ONTOLOGY - ANNOTATIONS

RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.

Term:chronic mucocutaneous candidiasis
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Accession:DOID:2058 term browser browse the term
Definition:A candidiasis that refers to a heterogeneous group of disorders characterized by recurrent or persistent superficial fungal infections located_in skin, located_in mucous membrane, or located_in nail due to T-cell defects, has-agent Candida species and has_symptom scaling of skin lesions, has_symptom thickening of nails, has_symptom swollen periungal tissue, and has_symptom scarring of the scalp. (DO)
Synonyms:exact_synonym: chronic mucocutaneous candidiases
 narrow_synonym: familial candidiasis, recessive;   familial chronic mucocutaneous candidiasis, autosomal recessive
 primary_id: MESH:D002178
 xref: GARD:12313;   NCI:C34444;   OMIM:PS114580;   ORDO:1334
For additional species annotation, visit the Alliance of Genome Resources.


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show annotations for term's descendants           Sort by:
chronic mucocutaneous candidiasis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Il17ra interleukin 17 receptor A ISO ClinVar Annotator: match by term: Familial Candidiasis, Recessive ClinVar PMID:24033266 PMID:25741868 PMID:28492532 NCBI chrNW_004955454:5,230,384...5,252,769
Ensembl chrNW_004955454:5,230,522...5,254,394
JBrowse link
G Mapk8 mitogen-activated protein kinase 8 ISO associated with connective tissue disease;DNA:splice-site mutation:splice junction:c.311+1G>A (human) RGD PMID:31784499 RGD:150340677 NCBI chrNW_004955556:1,593,552...1,705,543
Ensembl chrNW_004955556:1,593,494...1,665,784
JBrowse link
G Stat1 signal transducer and activator of transcription 1 ISO ClinVar Annotator: match by term: Chronic mucocutaneous candidiasis ClinVar PMID:21714643 PMID:21727188 PMID:23541320 PMID:23709754 PMID:24033266 More... NCBI chrNW_004955403:8,156,660...8,192,018
Ensembl chrNW_004955403:8,156,660...8,194,762
JBrowse link
Autoinflammatory Disease, Familial, Behcet-Like-3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Rela RELA proto-oncogene, NF-kB subunit ISO ClinVar Annotator: match by term: Mucocutaneous ulceration, chronic | ClinVar Annotator: match by term: RELA-related condition OMIM
ClinVar
PMID:25741868 PMID:28492532 PMID:28600438 PMID:29758562 PMID:32969189 More... NCBI chrNW_004955422:19,602,930...19,612,263
Ensembl chrNW_004955422:19,603,345...19,611,516
JBrowse link
Candidiasis, Familial, 6 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Il17f interleukin 17F ISO ClinVar Annotator: match by term: Candidiasis, familial, 6 OMIM
ClinVar
PMID:9536098 PMID:16199547 PMID:17576681 PMID:21350122 PMID:24033266 More... NCBI chrNW_004955411:5,852,767...5,859,208
Ensembl chrNW_004955411:5,852,767...5,859,208
JBrowse link
Candidiasis, Familial, 8 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Traf3ip2 TRAF3 interacting protein 2 ISO ClinVar Annotator: match by term: Candidiasis, familial, 8 ClinVar
OMIM
PMID:9536098 PMID:16199547 PMID:17576681 PMID:20953186 PMID:20953188 More... NCBI chrNW_004955411:36,328,152...36,363,614
Ensembl chrNW_004955411:36,326,926...36,363,288
JBrowse link
Candidiasis, Familial, 9 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Brk1 BRICK1 subunit of SCAR/WAVE actin nucleating complex ISO ClinVar Annotator: match by term: Candidiasis, familial, 9 ClinVar PMID:28492532 NCBI chrNW_004955561:1,545,921...1,554,423
Ensembl chrNW_004955561:1,545,576...1,554,618
JBrowse link
G Cidec cell death inducing DFFA like effector c ISO ClinVar Annotator: match by term: Candidiasis, familial, 9 ClinVar PMID:28492532 NCBI chrNW_004955561:1,363,907...1,376,144 JBrowse link
G Creld1 cysteine rich with EGF like domains 1 ISO ClinVar Annotator: match by term: Candidiasis, familial, 9 ClinVar PMID:25741868 PMID:28492532 NCBI chrNW_004955561:1,423,229...1,430,679
Ensembl chrNW_004955561:1,423,405...1,433,314
JBrowse link
G Emc3 ER membrane protein complex subunit 3 ISO ClinVar Annotator: match by term: Candidiasis, familial, 9 ClinVar PMID:28492532 NCBI chrNW_004955561:1,442,953...1,459,988
Ensembl chrNW_004955561:1,442,953...1,459,988
JBrowse link
G Fancd2 FA complementation group D2 ISO ClinVar Annotator: match by term: Candidiasis, familial, 9 ClinVar PMID:28492532 NCBI chrNW_004955561:1,460,080...1,538,026
Ensembl chrNW_004955561:1,464,869...1,538,045
JBrowse link
G Fancd2os FANCD2 opposite strand ISO ClinVar Annotator: match by term: Candidiasis, familial, 9 ClinVar PMID:28492532 NCBI chrNW_004955561:1,538,960...1,542,130
Ensembl chrNW_004955561:1,538,960...1,542,130
JBrowse link
G Il17rc interleukin 17 receptor C ISO ClinVar Annotator: match by term: Candidiasis, familial, 9 | ClinVar Annotator: match by term: IL17RC-related condition OMIM
ClinVar
PMID:9536098 PMID:16199547 PMID:17576681 PMID:25741868 PMID:25918342 More... NCBI chrNW_004955561:1,410,100...1,423,041
Ensembl chrNW_004955561:1,410,941...1,423,023
JBrowse link
G Il17re interleukin 17 receptor E ISO ClinVar Annotator: match by term: Candidiasis, familial, 9 ClinVar PMID:28492532 NCBI chrNW_004955561:1,397,286...1,409,999
Ensembl chrNW_004955561:1,397,287...1,409,999
JBrowse link
G Jagn1 jagunal homolog 1 ISO ClinVar Annotator: match by term: Candidiasis, familial, 9 ClinVar PMID:28492532 NCBI chrNW_004955561:1,388,592...1,392,107
Ensembl chrNW_004955561:1,388,592...1,392,107
JBrowse link
G Prrt3 proline rich transmembrane protein 3 ISO ClinVar Annotator: match by term: Candidiasis, familial, 9 ClinVar PMID:28492532 NCBI chrNW_004955561:1,430,767...1,437,981
Ensembl chrNW_004955561:1,431,375...1,435,670
JBrowse link
G Vhl von Hippel-Lindau tumor suppressor ISO ClinVar Annotator: match by term: Candidiasis, familial, 9 ClinVar PMID:28492532 NCBI chrNW_004955561:1,573,525...1,578,295
Ensembl chrNW_004955561:1,573,525...1,580,511
JBrowse link
Immunodeficiency 103 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Card9 caspase recruitment domain family member 9 susceptibility ISO ClinVar Annotator: match by term: IMMUNODEFICIENCY 103, SUSCEPTIBILITY TO FUNGAL INFECTIONS OMIM
ClinVar
PMID:9536098 PMID:9835960 PMID:16199547 PMID:17576681 PMID:19864672 More... NCBI chrNW_004955513:4,350,873...4,359,345
Ensembl chrNW_004955513:4,350,147...4,359,345
JBrowse link
G Entr1 endosome associated trafficking regulator 1 ISO ClinVar Annotator: match by term: IMMUNODEFICIENCY 103, SUSCEPTIBILITY TO FUNGAL INFECTIONS ClinVar PMID:28492532 NCBI chrNW_004955513:4,322,002...4,329,479
Ensembl chrNW_004955513:4,322,871...4,330,012
JBrowse link
G Inpp5e inositol polyphosphate-5-phosphatase E ISO ClinVar Annotator: match by term: IMMUNODEFICIENCY 103, SUSCEPTIBILITY TO FUNGAL INFECTIONS ClinVar PMID:28492532 NCBI chrNW_004955513:4,304,483...4,313,087
Ensembl chrNW_004955513:4,304,483...4,313,087
JBrowse link
G Pmpca peptidase, mitochondrial processing subunit alpha ISO ClinVar Annotator: match by term: IMMUNODEFICIENCY 103, SUSCEPTIBILITY TO FUNGAL INFECTIONS ClinVar PMID:28492532 NCBI chrNW_004955513:4,315,159...4,322,609
Ensembl chrNW_004955513:4,315,159...4,322,609
JBrowse link
G Snapc4 small nuclear RNA activating complex polypeptide 4 ISO ClinVar Annotator: match by term: IMMUNODEFICIENCY 103, SUSCEPTIBILITY TO FUNGAL INFECTIONS ClinVar PMID:28492532 NCBI chrNW_004955513:4,330,579...4,349,136
Ensembl chrNW_004955513:4,330,293...4,350,012
JBrowse link
immunodeficiency 31C term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Il21r interleukin 21 receptor ISO ClinVar Annotator: match by term: Immunodeficiency 31C ClinVar PMID:25741868 NCBI chrNW_004955493:5,613,704...5,646,692
Ensembl chrNW_004955493:5,613,564...5,650,583
JBrowse link
G Stat1 signal transducer and activator of transcription 1 ISO ClinVar Annotator: match by term: Autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections syndrome | ClinVar Annotator: match by term: Candidiasis, familial, 7 | ClinVar Annotator: match by term: Immunodeficiency 31C OMIM
ClinVar
PMID:9536098 PMID:17576681 PMID:21714643 PMID:21727188 PMID:22195034 More... NCBI chrNW_004955403:8,156,660...8,192,018
Ensembl chrNW_004955403:8,156,660...8,194,762
JBrowse link
immunodeficiency 51 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ada2 adenosine deaminase 2 ISO ClinVar Annotator: match by term: CANDIDIASIS, FAMILIAL, 5 ClinVar PMID:24552284 PMID:24552285 PMID:26607704 PMID:27930337 PMID:28492532 NCBI chrNW_004955454:5,341,822...5,355,383 JBrowse link
G Arvcf ARVCF delta catenin family member ISO ClinVar Annotator: match by term: CANDIDIASIS, FAMILIAL, 5 ClinVar PMID:24552284 PMID:24552285 PMID:26607704 PMID:27930337 PMID:28492532 NCBI chrNW_004955442:18,109,421...18,149,969
Ensembl chrNW_004955442:18,109,439...18,127,971
JBrowse link
G Atp6v1e1 ATPase H+ transporting V1 subunit E1 ISO ClinVar Annotator: match by term: CANDIDIASIS, FAMILIAL, 5 ClinVar PMID:24552284 PMID:24552285 PMID:26607704 PMID:27930337 PMID:28492532 NCBI chrNW_004955454:5,669,883...5,688,623
Ensembl chrNW_004955454:5,666,921...5,688,645
JBrowse link
G Bcl2l13 BCL2 like 13 ISO ClinVar Annotator: match by term: CANDIDIASIS, FAMILIAL, 5 ClinVar PMID:24552284 PMID:24552285 PMID:26607704 PMID:27930337 PMID:28492532 NCBI chrNW_004955454:5,692,027...5,770,897
Ensembl chrNW_004955454:5,715,991...5,769,443
JBrowse link
G Bid BH3 interacting domain death agonist ISO ClinVar Annotator: match by term: CANDIDIASIS, FAMILIAL, 5 ClinVar PMID:24552284 PMID:24552285 PMID:26607704 PMID:27930337 PMID:28492532 NCBI chrNW_004955454:5,776,656...5,785,500
Ensembl chrNW_004955454:5,777,667...5,783,118
JBrowse link
G Cdc45 cell division cycle 45 ISO ClinVar Annotator: match by term: CANDIDIASIS, FAMILIAL, 5 ClinVar PMID:24552284 PMID:24552285 PMID:26607704 PMID:27930337 PMID:28492532 NCBI chrNW_004955442:18,513,398...18,548,317
Ensembl chrNW_004955442:18,514,731...18,547,805
JBrowse link
G Cecr2 cat eye syndrome chromosome region, candidate 2 ISO ClinVar Annotator: match by term: CANDIDIASIS, FAMILIAL, 5 ClinVar PMID:24552284 PMID:24552285 PMID:26607704 PMID:27930337 PMID:28492532 NCBI chrNW_004955454:5,581,985...5,643,685
Ensembl chrNW_004955454:5,581,981...5,640,712
JBrowse link
G Cldn5 claudin 5 ISO ClinVar Annotator: match by term: CANDIDIASIS, FAMILIAL, 5 ClinVar PMID:24552284 PMID:24552285 PMID:26607704 PMID:27930337 PMID:28492532 NCBI chrNW_004955442:18,509,501...18,511,267
Ensembl chrNW_004955442:18,509,676...18,510,332
JBrowse link
G Cltcl1 clathrin heavy chain like 1 ISO ClinVar Annotator: match by term: CANDIDIASIS, FAMILIAL, 5 ClinVar PMID:24552284 PMID:24552285 PMID:26607704 PMID:27930337 PMID:28492532 NCBI chrNW_004955442:18,688,019...18,803,458
Ensembl chrNW_004955442:18,687,746...18,804,104
JBrowse link
G Comt catechol-O-methyltransferase ISO ClinVar Annotator: match by term: CANDIDIASIS, FAMILIAL, 5 ClinVar PMID:24552284 PMID:24552285 PMID:26607704 PMID:27930337 PMID:28492532 NCBI chrNW_004955442:18,130,282...18,152,153
Ensembl chrNW_004955442:18,130,987...18,137,412
JBrowse link
G CUNH22orf39 chromosome unknown C22orf39 homolog ISO ClinVar Annotator: match by term: CANDIDIASIS, FAMILIAL, 5 ClinVar PMID:24552284 PMID:24552285 PMID:26607704 PMID:27930337 PMID:28492532 NCBI chrNW_004955442:18,570,867...18,575,809
Ensembl chrNW_004955442:18,570,867...18,576,076
JBrowse link
G Dgcr2 DiGeorge syndrome critical region gene 2 ISO ClinVar Annotator: match by term: CANDIDIASIS, FAMILIAL, 5 ClinVar PMID:24552284 PMID:24552285 PMID:26607704 PMID:27930337 PMID:28492532 NCBI chrNW_004955442:18,857,222...18,938,552
Ensembl chrNW_004955442:18,857,222...18,938,680
JBrowse link
G Ess2 ess-2 splicing factor homolog ISO ClinVar Annotator: match by term: CANDIDIASIS, FAMILIAL, 5 ClinVar PMID:24552284 PMID:24552285 PMID:26607704 PMID:27930337 PMID:28492532 NCBI chrNW_004955442:18,829,037...18,840,542
Ensembl chrNW_004955442:18,828,976...18,840,542
JBrowse link
G Gnb1l G protein subunit beta 1 like ISO ClinVar Annotator: match by term: CANDIDIASIS, FAMILIAL, 5 ClinVar PMID:24552284 PMID:24552285 PMID:26607704 PMID:27930337 PMID:28492532 NCBI chrNW_004955442:18,224,081...18,281,558 JBrowse link
G Gp1bb glycoprotein Ib platelet subunit beta ISO ClinVar Annotator: match by term: CANDIDIASIS, FAMILIAL, 5 ClinVar PMID:24552284 PMID:24552285 PMID:26607704 PMID:27930337 PMID:28492532 NCBI chrNW_004955442:18,359,664...18,360,979
Ensembl chrNW_004955442:18,359,664...18,360,979
JBrowse link
G Gsc2 goosecoid homeobox 2 ISO ClinVar Annotator: match by term: CANDIDIASIS, FAMILIAL, 5 ClinVar PMID:24552284 PMID:24552285 PMID:26607704 PMID:27930337 PMID:28492532 NCBI chrNW_004955442:18,824,187...18,825,760
Ensembl chrNW_004955442:18,823,495...18,825,760
JBrowse link
G Hdhd5 haloacid dehalogenase like hydrolase domain containing 5 ISO ClinVar Annotator: match by term: CANDIDIASIS, FAMILIAL, 5 ClinVar PMID:24552284 PMID:24552285 PMID:26607704 PMID:27930337 PMID:28492532 NCBI chrNW_004955454:5,284,936...5,294,969
Ensembl chrNW_004955454:5,285,365...5,301,045
JBrowse link
G Il17ra interleukin 17 receptor A ISO ClinVar Annotator: match by term: CANDIDIASIS, FAMILIAL, 5 | ClinVar Annotator: match by term: Immunodeficiency 51 OMIM
ClinVar
PMID:9536098 PMID:16199547 PMID:17576681 PMID:21350122 PMID:24033266 More... NCBI chrNW_004955454:5,230,384...5,252,769
Ensembl chrNW_004955454:5,230,522...5,254,394
JBrowse link
G LOC102009660 protein HIRA ISO ClinVar Annotator: match by term: CANDIDIASIS, FAMILIAL, 5 ClinVar PMID:24552284 PMID:24552285 PMID:26607704 PMID:27930337 PMID:28492532 NCBI chrNW_004955442:18,581,370...18,673,590
Ensembl chrNW_004955442:18,581,370...18,673,761
JBrowse link
G Mical3 microtubule associated monooxygenase, calponin and LIM domain containing 3 ISO ClinVar Annotator: match by term: CANDIDIASIS, FAMILIAL, 5 ClinVar PMID:24552284 PMID:24552285 PMID:26607704 PMID:27930337 PMID:28492532 NCBI chrNW_004955454:5,820,291...5,983,262
Ensembl chrNW_004955454:5,820,299...5,983,101
JBrowse link
G Mrpl40 mitochondrial ribosomal protein L40 ISO ClinVar Annotator: match by term: CANDIDIASIS, FAMILIAL, 5 ClinVar PMID:24552284 PMID:24552285 PMID:26607704 PMID:27930337 PMID:28492532 NCBI chrNW_004955442:18,578,107...18,580,517
Ensembl chrNW_004955442:18,577,952...18,580,517
JBrowse link
G Pex26 peroxisomal biogenesis factor 26 ISO ClinVar Annotator: match by term: CANDIDIASIS, FAMILIAL, 5 ClinVar PMID:24552284 PMID:24552285 PMID:26607704 PMID:27930337 PMID:28492532 NCBI chrNW_004955454:6,097,251...6,115,430 JBrowse link
G Slc25a1 solute carrier family 25 member 1 ISO ClinVar Annotator: match by term: CANDIDIASIS, FAMILIAL, 5 ClinVar PMID:24552284 PMID:24552285 PMID:26607704 PMID:27930337 PMID:28492532 NCBI chrNW_004955442:18,804,319...18,807,353
Ensembl chrNW_004955442:18,804,319...18,808,900
JBrowse link
G Slc25a18 solute carrier family 25 member 18 ISO ClinVar Annotator: match by term: CANDIDIASIS, FAMILIAL, 5 ClinVar PMID:24552284 PMID:24552285 PMID:26607704 PMID:27930337 PMID:28492532 NCBI chrNW_004955454:5,648,255...5,668,754
Ensembl chrNW_004955454:5,648,255...5,668,754
JBrowse link
G Tango2 transport and golgi organization 2 homolog ISO ClinVar Annotator: match by term: CANDIDIASIS, FAMILIAL, 5 ClinVar PMID:24552284 PMID:24552285 PMID:26607704 PMID:27930337 PMID:28492532 NCBI chrNW_004955442:18,036,477...18,074,036
Ensembl chrNW_004955442:18,036,477...18,074,213
JBrowse link
G Tbx1 T-box transcription factor 1 ISO ClinVar Annotator: match by term: CANDIDIASIS, FAMILIAL, 5 ClinVar PMID:24552284 PMID:24552285 PMID:26607704 PMID:27930337 PMID:28492532 NCBI chrNW_004955442:18,320,674...18,327,062
Ensembl chrNW_004955442:18,319,762...18,325,337
JBrowse link
G Tmem121b transmembrane protein 121B ISO ClinVar Annotator: match by term: CANDIDIASIS, FAMILIAL, 5 ClinVar PMID:24552284 PMID:24552285 PMID:26607704 PMID:27930337 PMID:28492532 NCBI chrNW_004955454:5,260,179...5,268,675 JBrowse link
G Tssk2 testis specific serine kinase 2 ISO ClinVar Annotator: match by term: CANDIDIASIS, FAMILIAL, 5 ClinVar PMID:24552284 PMID:24552285 PMID:26607704 PMID:27930337 PMID:28492532 NCBI chrNW_004955442:18,846,491...18,847,485 JBrowse link
G Tuba8 tubulin alpha 8 ISO ClinVar Annotator: match by term: CANDIDIASIS, FAMILIAL, 5 ClinVar PMID:24552284 PMID:24552285 PMID:26607704 PMID:27930337 PMID:28492532 NCBI chrNW_004955454:6,129,821...6,148,645
Ensembl chrNW_004955454:6,129,612...6,148,645
JBrowse link
G Txnrd2 thioredoxin reductase 2 ISO ClinVar Annotator: match by term: CANDIDIASIS, FAMILIAL, 5 ClinVar PMID:24552284 PMID:24552285 PMID:26607704 PMID:27930337 PMID:28492532 NCBI chrNW_004955442:18,150,060...18,205,775
Ensembl chrNW_004955442:18,152,152...18,204,327
JBrowse link
G Ufd1 ubiquitin recognition factor in ER associated degradation 1 ISO ClinVar Annotator: match by term: CANDIDIASIS, FAMILIAL, 5 ClinVar PMID:24552284 PMID:24552285 PMID:26607704 PMID:27930337 PMID:28492532 NCBI chrNW_004955442:18,548,545...18,568,989
Ensembl chrNW_004955442:18,548,545...18,569,366
JBrowse link
G Usp18 ubiquitin specific peptidase 18 ISO ClinVar Annotator: match by term: CANDIDIASIS, FAMILIAL, 5 ClinVar PMID:24552284 PMID:24552285 PMID:26607704 PMID:27930337 PMID:28492532 NCBI chrNW_004955454:6,171,575...6,200,879
Ensembl chrNW_004955454:6,171,569...6,203,091
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16063
    disease of anatomical entity 13820
      integumentary system disease 3500
        nail disease 104
          chronic mucocutaneous candidiasis 54
            Autoinflammatory Disease, Familial, Behcet-Like-3 1
            Candidiasis, Familial, 1 0
            Candidiasis, Familial, 3 0
            Candidiasis, Familial, 4 0
            Candidiasis, Familial, 6 1
            Candidiasis, Familial, 8 1
            Candidiasis, Familial, 9 11
            Immunodeficiency 103 5
            immunodeficiency 31C 2
            immunodeficiency 51 32
Path 2
Term Annotations click to browse term
  disease 16063
    Pathological Conditions, Signs and Symptoms 11054
      Signs and Symptoms 9145
        Neurologic Manifestations 8844
          sensory system disease 6162
            skin disease 3500
              Infectious Skin Diseases 223
                dermatomycosis 87
                  chronic mucocutaneous candidiasis 54
                    Autoinflammatory Disease, Familial, Behcet-Like-3 1
                    Candidiasis, Familial, 1 0
                    Candidiasis, Familial, 3 0
                    Candidiasis, Familial, 4 0
                    Candidiasis, Familial, 6 1
                    Candidiasis, Familial, 8 1
                    Candidiasis, Familial, 9 11
                    Immunodeficiency 103 5
                    immunodeficiency 31C 2
                    immunodeficiency 51 32
paths to the root