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
Accession: DOID:0060878
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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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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 PMID:16199547 PMID:16912130 PMID:17210674 PMID:17309062 PMID:17576681 PMID:18621058 PMID:19057839 PMID:19248180 PMID:19253381 PMID:20006695 PMID:21120445 PMID:21242646 PMID:21834031 PMID:23052618 PMID:23142663 PMID:23435732 PMID:24033266 PMID:24728327 PMID:25137426 PMID:25741868 PMID:26282285 PMID:26316437 PMID:26467025 PMID:26514990 PMID:27387476 PMID:28492532 PMID:28566604 PMID:30143558 PMID:30311386 PMID:30396722 PMID:30534854 PMID:31433868 PMID:32442337 PMID:33120464 PMID:35802133 PMID:36633841 More...
NCBI chr10:8,045,333...8,075,198
Ensembl chr10:8,045,378...8,075,198
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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