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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:hypoparathyroidism-deafness-renal disease syndrome
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Accession:DOID:0060878 term browser browse the term
Definition:A chromosomal deletion syndrome that is characterized by autosomal dominant inheritance of hypoparathyroidism, sensorineural deafness and progressive renal failure and that has_material_basis_in chromosome deletion that results in haploinsufficiency of the GATA3 gene on chromosome 10p14. (DO)
Synonyms:exact_synonym: Barakat syndrome;   GATA3-RELATED CONDITION;   HDR;   HDR syndrome;   HDRS;   hypoparathyroidism, sensorineural deafness, and renal disease;   hypoparathyroidism, sensorineural deafness, and renal dysplasia syndrome;   nephrosis, nerve deafness, and hypoparathyroidism
 primary_id: MESH:C537907
 alt_id: MIM:146255
 xref: NCI:C130983;   ORDO:2237



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hypoparathyroidism-deafness-renal disease syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ACBD7 acyl-CoA binding domain containing 7 IAGP ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome ClinVar PMID:25741868 NCBI chr10:15,075,475...15,088,776
Ensembl chr10:15,075,475...15,088,776
JBrowse link
G AKR1C1 aldo-keto reductase family 1 member C1 IAGP ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome ClinVar PMID:25741868 NCBI chr10:4,963,415...4,983,283
Ensembl chr10:4,963,253...4,983,283
JBrowse link
G AKR1C2 aldo-keto reductase family 1 member C2 IAGP ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome ClinVar PMID:25741868 NCBI chr10:4,987,775...5,018,000
Ensembl chr10:4,987,775...5,018,031
JBrowse link
G AKR1C3 aldo-keto reductase family 1 member C3 IAGP ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome ClinVar PMID:25741868 NCBI chr10:5,048,781...5,107,686
Ensembl chr10:5,035,354...5,107,686
JBrowse link
G AKR1C4 aldo-keto reductase family 1 member C4 IAGP ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome ClinVar PMID:25741868 NCBI chr10:5,196,837...5,218,949
Ensembl chr10:5,195,462...5,218,949
JBrowse link
G AKR1E2 aldo-keto reductase family 1 member E2 IAGP ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome ClinVar PMID:25741868 NCBI chr10:4,824,973...4,873,237
Ensembl chr10:4,786,629...4,848,062
JBrowse link
G ANKRD16 ankyrin repeat domain 16 IAGP ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome ClinVar PMID:25741868 NCBI chr10:5,861,616...5,889,893
Ensembl chr10:5,861,616...5,889,906
JBrowse link
G ARL5B ARF like GTPase 5B IAGP ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome ClinVar PMID:25741868 NCBI chr10:18,659,431...18,681,639
Ensembl chr10:18,659,431...18,681,639
JBrowse link
G ASB13 ankyrin repeat and SOCS box containing 13 IAGP ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome ClinVar PMID:25741868 NCBI chr10:5,638,867...5,666,595
Ensembl chr10:5,638,867...5,666,595
JBrowse link
G ATP5F1C ATP synthase F1 subunit gamma IAGP ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome ClinVar PMID:25741868 NCBI chr10:7,788,177...7,807,801
Ensembl chr10:7,788,147...7,807,815
JBrowse link
G BEND7 BEN domain containing 7 IAGP ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome ClinVar PMID:25741868 NCBI chr10:13,438,481...13,529,634
Ensembl chr10:13,438,484...13,529,014
JBrowse link
G C1QL3 complement C1q like 3 IAGP ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome ClinVar PMID:25741868 NCBI chr10:16,513,734...16,521,879
Ensembl chr10:16,513,734...16,521,879
JBrowse link
G CACNB2 calcium voltage-gated channel auxiliary subunit beta 2 IAGP ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome ClinVar PMID:25741868 NCBI chr10:18,140,424...18,543,557
Ensembl chr10:18,140,424...18,543,557
JBrowse link
G CALML3 calmodulin like 3 IAGP ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome ClinVar PMID:25741868 NCBI chr10:5,524,961...5,526,771
Ensembl chr10:5,524,961...5,526,771
JBrowse link
G CALML3-AS1 CALML3 antisense RNA 1 IAGP ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome ClinVar PMID:25741868 NCBI chr10:5,514,244...5,526,246
Ensembl chr10:5,510,036...5,551,111
JBrowse link
G CALML5 calmodulin like 5 IAGP ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome ClinVar PMID:25741868 NCBI chr10:5,498,697...5,499,570
Ensembl chr10:5,498,697...5,499,570
JBrowse link
G CAMK1D calcium/calmodulin dependent protein kinase ID IAGP ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome ClinVar PMID:25741868 NCBI chr10:12,349,547...12,835,545
Ensembl chr10:12,349,547...12,835,545
JBrowse link
G CCDC3 coiled-coil domain containing 3 IAGP ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome ClinVar PMID:25741868 NCBI chr10:12,896,625...13,099,989
Ensembl chr10:12,896,625...13,099,652
JBrowse link
G CDC123 cell division cycle 123 IAGP ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome ClinVar PMID:25741868 NCBI chr10:12,196,188...12,250,589
Ensembl chr10:12,195,965...12,250,589
JBrowse link
G CDNF cerebral dopamine neurotrophic factor IAGP ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome ClinVar PMID:25741868 NCBI chr10:14,819,245...14,838,037
Ensembl chr10:14,819,245...14,838,575
JBrowse link
G CELF2 CUGBP Elav-like family member 2 IAGP ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome ClinVar PMID:25741868 NCBI chr10:10,462,550...11,336,675
Ensembl chr10:10,798,397...11,336,675
JBrowse link
G CUBN cubilin IAGP ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome ClinVar PMID:25741868 NCBI chr10:16,823,966...17,129,811
Ensembl chr10:16,823,966...17,129,811
JBrowse link
G DCLRE1C DNA cross-link repair 1C IAGP ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome ClinVar PMID:25741868 NCBI chr10:14,897,359...14,954,432
Ensembl chr10:14,897,359...14,954,432
JBrowse link
G DHTKD1 dehydrogenase E1 and transketolase domain containing 1 IAGP ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome ClinVar PMID:25741868 NCBI chr10:12,068,954...12,123,221
Ensembl chr10:12,068,954...12,123,221
JBrowse link
G ECHDC3 enoyl-CoA hydratase domain containing 3 IAGP ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome ClinVar PMID:25741868 NCBI chr10:11,742,382...11,764,070
Ensembl chr10:11,742,366...11,764,070
JBrowse link
G FAM107B family with sequence similarity 107 member B IAGP ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome ClinVar PMID:25741868 NCBI chr10:14,518,557...14,774,897
Ensembl chr10:14,518,557...14,774,897
JBrowse link
G FAM171A1 family with sequence similarity 171 member A1 IAGP ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome ClinVar PMID:25741868 NCBI chr10:15,211,643...15,374,554
Ensembl chr10:15,211,643...15,371,289
JBrowse link
G FBH1 F-box DNA helicase 1 IAGP ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome ClinVar PMID:25741868 NCBI chr10:5,889,572...5,937,593
Ensembl chr10:5,890,203...5,937,594
JBrowse link
G FRMD4A FERM domain containing 4A IAGP ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome ClinVar PMID:25741868 NCBI chr10:13,643,706...14,330,924
Ensembl chr10:13,643,706...14,462,142
JBrowse link
G GATA3 GATA binding protein 3 IAGP
ISS
EXP
ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome
ClinVar Annotator: match by term: GATA3-related condition | ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome
OMIM:146255
CTD Direct Evidence: marker/mechanism
ClinVar
MouseDO
OMIM
CTD
PMID:9536098 PMID:10935639 PMID:11389161 PMID:14985365 PMID:15705923 More... NCBI chr10:8,045,333...8,075,198
Ensembl chr10:8,045,378...8,075,198
JBrowse link
G GDI2 GDP dissociation inhibitor 2 IAGP ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome ClinVar PMID:25741868 NCBI chr10:5,765,223...5,813,434
Ensembl chr10:5,765,222...5,842,132
JBrowse link
G HACD1 3-hydroxyacyl-CoA dehydratase 1 IAGP ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome ClinVar PMID:25741868 NCBI chr10:17,589,032...17,617,374
Ensembl chr10:17,589,032...17,617,374
JBrowse link
G HSPA14 heat shock protein family A (Hsp70) member 14 IAGP ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome ClinVar PMID:25741868 NCBI chr10:14,838,306...14,871,741
Ensembl chr10:14,838,306...14,871,741
JBrowse link
G IL15RA interleukin 15 receptor subunit alpha IAGP ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome ClinVar PMID:25741868 NCBI chr10:5,948,900...5,978,741
Ensembl chr10:5,943,639...5,978,187
JBrowse link
G IL2RA interleukin 2 receptor subunit alpha IAGP ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome ClinVar PMID:25741868 NCBI chr10:6,010,689...6,062,367
Ensembl chr10:6,010,689...6,062,370
JBrowse link
G ITGA8 integrin subunit alpha 8 IAGP ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome ClinVar PMID:25741868 NCBI chr10:15,513,954...15,719,922
Ensembl chr10:15,513,954...15,719,922
JBrowse link
G ITIH2 inter-alpha-trypsin inhibitor heavy chain 2 IAGP ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome ClinVar PMID:25741868 NCBI chr10:7,703,316...7,749,520
Ensembl chr10:7,703,316...7,749,520
JBrowse link
G ITIH5 inter-alpha-trypsin inhibitor heavy chain 5 IAGP ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome ClinVar PMID:25741868 NCBI chr10:7,559,270...7,666,966
Ensembl chr10:7,559,270...7,666,998
JBrowse link
G KIN Kin17 DNA and RNA binding protein IAGP ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome ClinVar PMID:25741868 NCBI chr10:7,750,962...7,787,993
Ensembl chr10:7,750,962...7,787,993
JBrowse link
G LOC130003278 ATAC-STARR-seq lymphoblastoid silent region 2118 IAGP ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome ClinVar PMID:25741868 PMID:26467025 PMID:28492532 NCBI chr10:8,055,838...8,055,917 JBrowse link
G MCM10 minichromosome maintenance 10 replication initiation factor IAGP ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome ClinVar PMID:25741868 NCBI chr10:13,161,558...13,211,110
Ensembl chr10:13,161,558...13,211,110
JBrowse link
G MEIG1 meiosis/spermiogenesis associated 1 IAGP ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome ClinVar PMID:25741868 NCBI chr10:14,954,228...14,988,050
Ensembl chr10:14,959,388...14,988,050
JBrowse link
G MINDY3 MINDY lysine 48 deubiquitinase 3 IAGP ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome ClinVar PMID:25741868 NCBI chr10:15,778,174...15,860,507
Ensembl chr10:15,778,170...15,860,507
JBrowse link
G NET1 neuroepithelial cell transforming 1 IAGP ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome ClinVar PMID:25741868 NCBI chr10:5,412,557...5,459,056
Ensembl chr10:5,412,557...5,459,056
JBrowse link
G NMT2 N-myristoyltransferase 2 IAGP ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome ClinVar PMID:25741868 NCBI chr10:15,105,700...15,168,693
Ensembl chr10:15,102,584...15,168,693
JBrowse link
G NSUN6 NOP2/Sun RNA methyltransferase 6 IAGP ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome ClinVar PMID:25741868 NCBI chr10:18,545,561...18,659,327
Ensembl chr10:18,545,561...18,659,285
JBrowse link
G NUDT5 nudix hydrolase 5 IAGP ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome ClinVar PMID:25741868 NCBI chr10:12,165,330...12,195,891
Ensembl chr10:12,165,330...12,195,891
JBrowse link
G OLAH oleoyl-ACP hydrolase IAGP ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome ClinVar PMID:25741868 NCBI chr10:15,032,195...15,073,853
Ensembl chr10:15,032,227...15,073,853
JBrowse link
G OPTN optineurin IAGP ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome ClinVar PMID:25741868 NCBI chr10:13,100,082...13,138,308
Ensembl chr10:13,099,449...13,138,308
JBrowse link
G PFKFB3 6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 3 IAGP ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome ClinVar PMID:25741868 NCBI chr10:6,144,921...6,326,637
Ensembl chr10:6,144,934...6,254,644
JBrowse link
G PHYH phytanoyl-CoA 2-hydroxylase IAGP ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome ClinVar PMID:25741868 NCBI chr10:13,277,799...13,300,064
Ensembl chr10:13,277,796...13,302,412
JBrowse link
G PRKCQ protein kinase C theta IAGP ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome ClinVar PMID:25741868 NCBI chr10:6,394,097...6,580,646
Ensembl chr10:6,427,143...6,580,301
JBrowse link
G PROSER2 proline and serine rich 2 IAGP ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome ClinVar PMID:25741868 NCBI chr10:11,823,356...11,872,277
Ensembl chr10:11,823,339...11,872,277
JBrowse link
G PRPF18 pre-mRNA processing factor 18 IAGP ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome ClinVar PMID:25741868 NCBI chr10:13,586,965...13,655,929
Ensembl chr10:13,586,939...13,668,445
JBrowse link
G PTER phosphotriesterase related IAGP ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome ClinVar PMID:25741868 NCBI chr10:16,437,010...16,519,020
Ensembl chr10:16,436,943...16,513,745
JBrowse link
G RBM17 RNA binding motif protein 17 IAGP ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome ClinVar PMID:25741868 NCBI chr10:6,089,034...6,117,447
Ensembl chr10:6,089,034...6,117,457
JBrowse link
G RPP38 ribonuclease P/MRP subunit p38 IAGP ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome ClinVar PMID:25741868 NCBI chr10:15,097,355...15,104,257
Ensembl chr10:15,097,180...15,139,818
JBrowse link
G RPP38-DT RPP38 divergent transcript IAGP ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome ClinVar PMID:25741868 NCBI chr10:15,095,385...15,097,319
Ensembl chr10:15,095,385...15,097,319
JBrowse link
G RSU1 Ras suppressor protein 1 IAGP ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome ClinVar PMID:25741868 NCBI chr10:16,590,611...16,817,424
Ensembl chr10:16,590,611...16,817,463
JBrowse link
G SEC61A2 SEC61 translocon subunit alpha 2 IAGP ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome ClinVar PMID:25741868 NCBI chr10:12,129,641...12,169,958
Ensembl chr10:12,129,637...12,169,961
JBrowse link
G SEPHS1 selenophosphate synthetase 1 IAGP ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome ClinVar PMID:25741868 NCBI chr10:13,317,428...13,348,293
Ensembl chr10:13,317,428...13,348,298
JBrowse link
G SFMBT2 Scm like with four mbt domains 2 IAGP ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome ClinVar PMID:25741868 NCBI chr10:7,158,624...7,411,490
Ensembl chr10:7,158,624...7,411,488
JBrowse link
G SLC39A12 solute carrier family 39 member 12 IAGP ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome ClinVar PMID:25741868 NCBI chr10:17,951,918...18,043,285
Ensembl chr10:17,951,839...18,043,292
JBrowse link
G ST8SIA6 ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 6 IAGP ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome ClinVar PMID:25741868 NCBI chr10:17,315,421...17,454,595
Ensembl chr10:17,315,421...17,454,595
JBrowse link
G STAM signal transducing adaptor molecule IAGP ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome ClinVar PMID:25741868 NCBI chr10:17,644,151...17,716,824
Ensembl chr10:17,644,151...17,716,824
JBrowse link
G SUV39H2 SUV39H2 histone lysine methyltransferase IAGP ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome ClinVar PMID:25741868 NCBI chr10:14,878,866...14,904,315
Ensembl chr10:14,878,820...14,904,315
JBrowse link
G TAF3 TATA-box binding protein associated factor 3 IAGP ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome ClinVar PMID:25741868 NCBI chr10:7,818,505...8,016,631
Ensembl chr10:7,818,497...8,016,631
JBrowse link
G TASOR2 transcription activation suppressor family member 2 IAGP ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome ClinVar PMID:25741868 NCBI chr10:5,684,838...5,763,740
Ensembl chr10:5,684,731...5,763,779
JBrowse link
G TRDMT1 tRNA aspartic acid methyltransferase 1 IAGP ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome ClinVar PMID:25741868 NCBI chr10:17,137,336...17,201,672
Ensembl chr10:17,137,336...17,202,054
JBrowse link
G TUBAL3 tubulin alpha like 3 IAGP ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome ClinVar PMID:25741868 NCBI chr10:5,393,101...5,404,828
Ensembl chr10:5,393,101...5,404,828
JBrowse link
G UCMA upper zone of growth plate and cartilage matrix associated IAGP ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome ClinVar PMID:25741868 NCBI chr10:13,221,766...13,234,374
Ensembl chr10:13,221,766...13,234,374
JBrowse link
G UCN3 urocortin 3 IAGP ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome ClinVar PMID:25741868 NCBI chr10:5,364,966...5,374,692
Ensembl chr10:5,364,966...5,374,692
JBrowse link
G UPF2 UPF2 regulator of nonsense mediated mRNA decay IAGP ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome ClinVar PMID:25741868 NCBI chr10:11,920,022...12,043,170
Ensembl chr10:11,920,022...12,043,170
JBrowse link
G USP6NL USP6 N-terminal like IAGP ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome ClinVar PMID:25741868 NCBI chr10:11,460,510...11,611,650
Ensembl chr10:11,460,510...11,611,666
JBrowse link
G VIM vimentin IAGP ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome ClinVar PMID:25741868 NCBI chr10:17,228,241...17,237,593
Ensembl chr10:17,228,241...17,237,593
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 97387
    syndrome 29825
      chromosomal deletion syndrome 4812
        hypoparathyroidism-deafness-renal disease syndrome 75
Path 2
Term Annotations click to browse term
  disease 97387
    disease of anatomical entity 91016
      nervous system disease 53022
        Neurologic Manifestations 31894
          sensory system disease 20956
            Otorhinolaryngologic Diseases 3877
              auditory system disease 1991
                Hearing Disorders 1676
                  Hearing Loss 1670
                    sensorineural hearing loss 1193
                      hypoparathyroidism-deafness-renal disease syndrome 75
paths to the root