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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:Endocrine Bone Diseases
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Accession:DOID:9007819 term browser browse the term
Definition:Diseases of the bones related to hyperfunction or hypofunction of the endocrine glands.
Synonyms:exact_synonym: Endocrine Bone Disease
 primary_id: MESH:D001849
 alt_id: RDO:0004719
For additional species annotation, visit the Alliance of Genome Resources.


show annotations for term's descendants           Sort by:
 
Endocrine Bone Diseases term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pdgfa platelet derived growth factor subunit A ISO CTD Direct Evidence: marker/mechanism CTD PMID:18635661 NCBI chr12:17,734,141...17,756,186
Ensembl chr12:17,734,133...17,755,285
JBrowse link
G Pth parathyroid hormone ISO CTD Direct Evidence: marker/mechanism CTD PMID:18635661 NCBI chr 1:178,215,829...178,218,761
Ensembl chr 1:178,215,829...178,218,761
JBrowse link
acromegaly term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gh1 growth hormone 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:1682667, PMID:3059976, PMID:6237480, PMID:7440347, PMID:9186818, PMID:18381583, PMID:18388193 NCBI chr10:94,486,204...94,488,181
Ensembl chr10:94,486,205...94,488,180
JBrowse link
G Gnas GNAS complex locus ISO CTD Direct Evidence: marker/mechanism CTD PMID:11254676 NCBI chr 3:172,374,957...172,434,988
Ensembl chr 3:172,374,957...172,428,483
Ensembl chr 3:172,374,957...172,428,483
JBrowse link
G Igf1 insulin-like growth factor 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:1682667, PMID:9186818, PMID:18381583, PMID:18388193 NCBI chr 7:28,412,123...28,491,815
Ensembl chr 7:28,412,198...28,486,609
JBrowse link
Alazami Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Larp7 La ribonucleoprotein 7, transcriptional regulator ISO ClinVar Annotator: match by term: Alazami syndrome
ClinVar Annotator: match by OMIM:615071
ClinVar Annotator: match by This custom term has been created by RGD curators.
OMIM
ClinVar
PMID:22865833, PMID:25741868, PMID:30006060, PMID:30311386, PMID:32860008 NCBI chr 2:231,866,888...231,882,002
Ensembl chr 2:231,867,135...231,881,939
JBrowse link
blepharophimosis-intellectual disability syndrome, SBBYS type term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dusp29 dual specificity phosphatase 29 ISO ClinVar Annotator: match by term: Young Simpson syndrome ClinVar PMID:8055130, PMID:18798845, PMID:21344633, PMID:22077973, PMID:23436491, PMID:25326637, PMID:25741868, PMID:27696664 NCBI chr15:2,766,929...2,806,573
Ensembl chr15:2,766,710...2,806,536
JBrowse link
G Kat6b lysine acetyltransferase 6B ISO DNA:mutations:cds:multiple (human)
ClinVar Annotator: match by term: Blepharophimosis - intellectual disability syndrome, SBBYS type
ClinVar Annotator: match by term: Young Simpson syndrome
ClinVar Annotator: match by OMIM:603736
ClinVar
OMIM
PMID:8055130, PMID:18798845, PMID:21344633, PMID:22077973, PMID:23436491, PMID:25326637, PMID:25424711, PMID:25741868, PMID:26334766, PMID:26938784, PMID:27696664, PMID:28758091, PMID:30353918, PMID:22077973 RGD:9588484 NCBI chr15:2,811,933...2,966,833
Ensembl chr15:2,813,537...2,966,576
JBrowse link
Brain-Lung-Thyroid Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Nkx2-1 NK2 homeobox 1 ISO ClinVar Annotator: match by term: Choreoathetosis, hypothyroidism, and neonatal respiratory distress
DNA:missense mutation exon:p.L224R (c.671T>G) (human)
DNA:nonsense mutation:exon:p.S145X (c.609C>A) (human)
DNA:deletion:exon:p.R165Gfs*32 (c.493delC) (human)
DNA:deletion:exon:p.M29Afs*40 (c.84_90del) (human)
ClinVar Annotator: match by OMIM:610978
OMIM
ClinVar
PMID:11854318, PMID:11854319, PMID:12891678, PMID:15289765, PMID:15955952, PMID:17220277, PMID:18788921, PMID:19176457, PMID:19336474, PMID:24555207, PMID:25326635, PMID:25741868, PMID:28492532, PMID:29538355, PMID:26839702, PMID:18788921, PMID:23379327, PMID:23911641 RGD:12914770, RGD:11073166, RGD:12914769, RGD:12914768 NCBI chr 6:77,418,096...77,423,383
Ensembl chr 6:77,418,096...77,421,286
JBrowse link
CATARACTS, GROWTH HORMONE DEFICIENCY, SENSORY NEUROPATHY, SENSORINEURAL HEARING LOSS, AND SKELETAL DYSPLASIA term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Iars2 isoleucyl-tRNA synthetase 2, mitochondrial ISO ClinVar Annotator: match by term: Cataracts, growth hormone deficiency, sensory neuropathy, sensorineural hearing loss, and skeletal dysplasia OMIM
ClinVar
PMID:8409271, PMID:25130867, PMID:25741868, PMID:28328135, PMID:28492532, PMID:30041933, PMID:30419932 NCBI chr13:103,229,868...103,265,019
Ensembl chr13:103,231,387...103,264,906
JBrowse link
Combined Pituitary Hormone Deficiency, 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Chmp2b charged multivesicular body protein 2B ISO ClinVar Annotator: match by term: Combined Pituitary Hormone Deficiency, Recessive ClinVar PMID:26467025, PMID:28492532 NCBI chr11:2,666,405...2,692,213
Ensembl chr11:2,665,285...2,692,198
JBrowse link
G Lhx3 LIM homeobox 3 ISO ClinVar Annotator: match by term: Combined Pituitary Hormone Deficiency, Recessive ClinVar NCBI chr 3:3,653,861...3,662,509
Ensembl chr 3:3,654,755...3,661,810
JBrowse link
G Pou1f1 POU class 1 homeobox 1 ISO ClinVar Annotator: match by term: Combined Pituitary Hormone Deficiency, Recessive ClinVar PMID:25741868, PMID:26467025, PMID:28492532 NCBI chr11:2,645,659...2,662,581
Ensembl chr11:2,645,865...2,662,579
JBrowse link
G Prop1 PROP paired-like homeobox 1 ISO ClinVar Annotator: match by term: Pituitary hormone deficiency, combined 2
ClinVar Annotator: match by term: Combined Pituitary Hormone Deficiency, Recessive
ClinVar Annotator: match by OMIM:262600
OMIM
ClinVar
PMID:9462743, PMID:9661653, PMID:9768691, PMID:9824293, PMID:10323394, PMID:10599689, PMID:10946881, PMID:11134108, PMID:11549674, PMID:11549703, PMID:12153609, PMID:12519826, PMID:14614227, PMID:15126542, PMID:15472232, PMID:15531542, PMID:15670191, PMID:15941866, PMID:15963055, PMID:16131601, PMID:16544023, PMID:16735499, PMID:16984240, PMID:17526936, PMID:17526949, PMID:18157385, PMID:19128366, PMID:20381582, PMID:20981092, PMID:21132537, PMID:21863341, PMID:22024773, PMID:22111336, PMID:24033266, PMID:25557026, PMID:25741868, PMID:26147833, PMID:26467025, PMID:26608600, PMID:26886902, PMID:28492532, PMID:28734020, PMID:30266296, PMID:30311386 NCBI chr10:36,449,920...36,452,381
Ensembl chr10:36,449,920...36,452,378
JBrowse link
Combined Pituitary Hormone Deficiency, 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Lhx3 LIM homeobox 3 ISO ClinVar Annotator: match by term: Winkelman Bethge Pfeiffer syndrome
ClinVar Annotator: match by term: Pituitary hormone deficiency, combined 3
ClinVar Annotator: match by OMIM:221750
OMIM
ClinVar
PMID:10835633, PMID:12780757, PMID:16394081, PMID:16940453, PMID:17327381, PMID:17438671, PMID:18407919, PMID:19837867, PMID:25741868, PMID:28492532 NCBI chr 3:3,653,861...3,662,509
Ensembl chr 3:3,654,755...3,661,810
JBrowse link
Combined Pituitary Hormone Deficiency, 4 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Acbd6 acyl-CoA binding domain containing 6 ISO ClinVar Annotator: match by term: Pituitary hormone deficiency, combined 4
ClinVar Annotator: match by term: Short stature, pituitary and cerebellar defects and small sella turcica
ClinVar Annotator: match by term: Pituitary hormone deficiency, combined with or without cerebellar defects
ClinVar PMID:11567216, PMID:17201807, PMID:17527005, PMID:18445675, PMID:20534763, PMID:23990694, PMID:24033266, PMID:25741868, PMID:25910213, PMID:28492532 NCBI chr13:73,196,504...73,334,077
Ensembl chr13:73,196,571...73,334,077
JBrowse link
G Lhx4 LIM homeobox 4 ISO ClinVar Annotator: match by term: Short stature, pituitary and cerebellar defects and small sella turcica
ClinVar Annotator: match by term: Pituitary hormone deficiency, combined with or without cerebellar defects
ClinVar Annotator: match by OMIM:262700
ClinVar Annotator: match by term: Pituitary hormone deficiency, combined 4
OMIM
ClinVar
PMID:11567216, PMID:17201807, PMID:17527005, PMID:18445675, PMID:20534763, PMID:23029363, PMID:23990694, PMID:24033266, PMID:25741868, PMID:25910213, PMID:28492532 NCBI chr13:73,348,874...73,400,416
Ensembl chr13:73,348,842...73,400,416
JBrowse link
congenital hypothyroidism term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Arpc5 actin related protein 2/3 complex, subunit 5 IEP protein:decreased expression:frontal cortex (rat) RGD PMID:23459330 RGD:11049475 NCBI chr13:70,174,970...70,183,879
Ensembl chr13:70,174,936...70,183,879
JBrowse link
G Atp5pd ATP synthase peripheral stalk subunit d IEP protein:altered expression:cerebral cortex (rat) RGD PMID:21575372 RGD:11049155 NCBI chr10:103,967,340...103,972,552
Ensembl chr10:103,967,312...103,972,668
JBrowse link
G Bglap bone gamma-carboxyglutamate protein IDA mRNA,protein:decreased expression:skull, serum RGD PMID:7920889 RGD:6483557 NCBI chr 2:187,741,770...187,748,445
Ensembl chr 2:187,741,770...187,742,747
JBrowse link
G Duox2 dual oxidase 2 ISO ClinVar Annotator: match by term: Congenital hypothyroidism
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
PMID:12110737, PMID:16134168, PMID:16322276, PMID:17121535, PMID:17374849, PMID:18765513, PMID:19789206, PMID:20187165, PMID:20972728, PMID:21565790, PMID:21900383, PMID:23457309, PMID:24033266, PMID:24423310, PMID:24735383, PMID:25741868, PMID:26990548, PMID:27108200, PMID:27821020, PMID:28492532, PMID:28666341, PMID:30240412, PMID:12110737 RGD:734905 NCBI chr 3:114,218,187...114,237,808
Ensembl chr 3:114,218,193...114,235,933
JBrowse link
G Egr1 early growth response 1 IEP RGD PMID:23079472 RGD:10395304 NCBI chr18:27,657,903...27,660,101
Ensembl chr18:27,657,628...27,661,429
JBrowse link
G Foxe1 forkhead box E1 ISS MouseDO NCBI chr 5:61,954,549...61,957,357
Ensembl chr 5:61,954,549...61,957,357
JBrowse link
G G6pd glucose-6-phosphate dehydrogenase IEP protein:decreased expression:hippocampus RGD PMID:23693027 RGD:10449124 NCBI chr  X:156,274,800...156,293,935
Ensembl chr  X:156,274,800...156,293,926
JBrowse link
G Gh1 growth hormone 1 treatment IEP RGD PMID:21162131 RGD:10003146 NCBI chr10:94,486,204...94,488,181
Ensembl chr10:94,486,205...94,488,180
JBrowse link
G Ghr growth hormone receptor treatment IEP RGD PMID:21162131 RGD:10003146 NCBI chr 2:53,149,225...53,413,954
Ensembl chr 2:53,150,370...53,413,638
JBrowse link
G Igf1 insulin-like growth factor 1 IEP protein:decreased expression:serum (rat) RGD PMID:1718729 RGD:12910128 NCBI chr 7:28,412,123...28,491,815
Ensembl chr 7:28,412,198...28,486,609
JBrowse link
G Igsf1 immunoglobulin superfamily, member 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23143598 NCBI chr  X:136,792,637...136,808,107
Ensembl chr  X:136,792,643...136,807,885
JBrowse link
G Inhbb inhibin subunit beta B IEP mRNA:decreased expression:testes (rat) RGD PMID:7819453 RGD:9743921 NCBI chr13:35,436,532...35,442,222
Ensembl chr13:35,436,532...35,442,222
JBrowse link
G Iyd iodotyrosine deiodinase ISO ClinVar Annotator: match by term: Congenital hypothyroidism ClinVar NCBI chr 1:40,086,513...40,100,966
Ensembl chr 1:40,086,470...40,101,840
JBrowse link
G Nefh neurofilament heavy IDA protein:decreased expression, increased phosphorylation RGD PMID:18845185 RGD:9693732 NCBI chr14:85,181,572...85,191,557
Ensembl chr14:85,181,572...85,191,557
JBrowse link
G Nefl neurofilament light IDA protein:decreased expression, increased phosphorylation RGD PMID:18845185 RGD:9693732 NCBI chr15:44,799,378...44,803,251
Ensembl chr15:44,799,334...44,804,574
JBrowse link
G Nefm neurofilament medium IDA protein:decreased expression, increased phosphorylation RGD PMID:18845185 RGD:9693732 NCBI chr15:44,855,307...44,860,604
Ensembl chr15:44,855,310...44,860,604
JBrowse link
G Ngfr nerve growth factor receptor treatment IEP RGD PMID:23312094 RGD:10414076 NCBI chr10:83,389,828...83,408,061
Ensembl chr10:83,389,847...83,408,061
JBrowse link
G Pax8 paired box 8 ISO
ISS
nongoitrous congenital hypothyroidism 2, OMIM:218700
ClinVar Annotator: match by term: Congenital hypothyroidism
MouseDO
ClinVar
PMID:9590296 RGD:1600298 NCBI chr 3:1,527,316...1,586,019
Ensembl chr 3:1,527,279...1,584,946
JBrowse link
G Ppargc1a PPARG coactivator 1 alpha IEP mRNA:decreased expression:cerebellum (rat) RGD PMID:20515651 RGD:10059677 NCBI chr14:63,095,291...63,190,688
Ensembl chr14:63,095,720...63,187,009
JBrowse link
G Runx2 RUNX family transcription factor 2 ISS MouseDO NCBI chr 9:18,564,743...18,773,092
Ensembl chr 9:18,564,927...18,773,092
JBrowse link
G Slc26a7 solute carrier family 26 member 7 ISO ClinVar Annotator: match by term: Congenital hypothyroidism ClinVar PMID:31372509 NCBI chr 5:27,986,656...28,131,294
Ensembl chr 5:27,986,663...28,177,340
JBrowse link
G Slc5a5 solute carrier family 5 member 5 ISO iodide transport defect, OMIM:274400;DNA:point mutation:exon:T354P RGD PMID:9171822 RGD:1624273 NCBI chr16:20,297,414...20,307,401
Ensembl chr16:20,297,414...20,307,400
JBrowse link
G Tg thyroglobulin ISS MouseDO NCBI chr 7:107,467,260...107,652,897
Ensembl chr 7:107,467,260...107,652,899
JBrowse link
G Tpo thyroid peroxidase ISO total iodide organification defect, OMIM:274500
ClinVar Annotator: match by term: Congenital hypothyroidism
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
PMID:1401057, PMID:12564727, PMID:14751036, PMID:15745925, PMID:16187919, PMID:17381485, PMID:17468186, PMID:23512414, PMID:25741868, PMID:27373559, PMID:27617131, PMID:30240412, PMID:30311386, PMID:7550241 RGD:1599648 NCBI chr 6:49,020,918...49,089,855
Ensembl chr 6:49,021,044...49,089,855
JBrowse link
G Trhr thyrotropin releasing hormone receptor ISS MouseDO NCBI chr 7:83,113,641...83,153,520
Ensembl chr 7:83,113,672...83,153,519
JBrowse link
G Tshb thyroid stimulating hormone subunit beta ISO ClinVar Annotator: match by term: Congenital hypothyroidism ClinVar PMID:25741868 NCBI chr 2:205,207,799...205,215,199
Ensembl chr 2:205,207,799...205,212,681
JBrowse link
G Tshr thyroid stimulating hormone receptor ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Congenital hypothyroidism
CTD
ClinVar
PMID:11442002, PMID:12629076, PMID:15693879, PMID:17526952, PMID:19158199, PMID:19506388, PMID:21677043, PMID:21707688, PMID:21714469, PMID:22405933, PMID:22876533, PMID:23926367, PMID:24033266, PMID:24895636, PMID:25741868, PMID:26709262, PMID:27084275, PMID:27637299, PMID:28444304, PMID:28455095 NCBI chr 6:115,170,290...115,306,871
Ensembl chr 6:115,170,865...115,306,871
JBrowse link
G Tubb1 tubulin, beta 1 class VI ISO ClinVar Annotator: match by term: Congenital hypothyroidism ClinVar NCBI chr 3:172,550,252...172,558,089
Ensembl chr 3:172,550,258...172,558,114
JBrowse link
Congenital Nongoitrous Hypothyroidism term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cep128 centrosomal protein 128 ISO ClinVar Annotator: match by term: TSH RESISTANCE ClinVar PMID:1955520, PMID:9385128, PMID:10037069, PMID:17062880, PMID:24728327, PMID:25741868, PMID:28492532 NCBI chr 6:114,759,474...115,158,004
Ensembl chr 6:114,759,474...115,157,854
JBrowse link
G Tshr thyroid stimulating hormone receptor ISO ClinVar Annotator: match by term: TSH RESISTANCE ClinVar PMID:1955520, PMID:9385128, PMID:10037069, PMID:17062880, PMID:24728327, PMID:25741868, PMID:28492532 NCBI chr 6:115,170,290...115,306,871
Ensembl chr 6:115,170,865...115,306,871
JBrowse link
congenital nongoitrous hypothyroidism 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cep128 centrosomal protein 128 ISO ClinVar Annotator: match by term: HYPOTHYROIDISM, NONAUTOIMMUNE
ClinVar Annotator: match by term: Hypothyroidism, congenital, nongoitrous, 1
ClinVar PMID:1955520, PMID:8964822, PMID:9385128, PMID:10037069, PMID:12050212, PMID:17062880, PMID:24728327, PMID:25741868, PMID:28492532, PMID:30311386 NCBI chr 6:114,759,474...115,158,004
Ensembl chr 6:114,759,474...115,157,854
JBrowse link
G Tshr thyroid stimulating hormone receptor ISO ClinVar Annotator: match by term: Hypothyroidism, congenital, nongoitrous, 1
ClinVar Annotator: match by term: HYPOTHYROIDISM, NONAUTOIMMUNE
ClinVar
OMIM
PMID:1955520, PMID:7528344, PMID:8954020, PMID:8964822, PMID:9100579, PMID:9185526, PMID:9329388, PMID:9385128, PMID:9589634, PMID:9589691, PMID:10037069, PMID:10720030, PMID:10870027, PMID:11095460, PMID:11442002, PMID:12050212, PMID:12629076, PMID:14725684, PMID:15514085, PMID:15693879, PMID:16756469, PMID:17062880, PMID:17526952, PMID:17953807, PMID:18379122, PMID:18850313, PMID:19158199, PMID:19221175, PMID:19240155, PMID:19506388, PMID:19820021, PMID:20652618, PMID:20718767, PMID:20736161, PMID:21586576, PMID:21677043, PMID:21707688, PMID:21714469, PMID:22049173, PMID:22359649, PMID:22405933, PMID:22876533, PMID:23356285, PMID:23535966, PMID:23926367, PMID:24033266, PMID:24728327, PMID:24895636, PMID:25248169, PMID:25557138, PMID:25741868, PMID:26709262, PMID:27060741, PMID:27084275, PMID:27255745, PMID:27578510, PMID:27637299, PMID:28444304, PMID:28455095, PMID:28492532, PMID:28561265, PMID:30311386 NCBI chr 6:115,170,290...115,306,871
Ensembl chr 6:115,170,865...115,306,871
JBrowse link
congenital nongoitrous hypothyroidism 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pax8 paired box 8 ISO ClinVar Annotator: match by term: Hypothyroidism, congenital, nongoitrous, 2
ClinVar Annotator: match by term: Thyroid, ectopic
OMIM
ClinVar
PMID:9382140, PMID:9523167, PMID:9590296, PMID:11232006, PMID:11502839, PMID:12116225, PMID:15356023, PMID:15718293, PMID:17437516, PMID:17980011, PMID:20302910, PMID:23647375, PMID:25741868, PMID:28060725, PMID:28492532 NCBI chr 3:1,527,316...1,586,019
Ensembl chr 3:1,527,279...1,584,946
JBrowse link
congenital nongoitrous hypothyroidism 4 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tshb thyroid stimulating hormone subunit beta ISO ClinVar Annotator: match by term: Pituitary cretinism
ClinVar Annotator: match by term: HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 4
OMIM
ClinVar
PMID:1971148, PMID:2792087, PMID:8636437, PMID:9589689, PMID:11297590, PMID:11549695, PMID:11788671, PMID:12364478, PMID:15292359, PMID:24423284, PMID:25741868, PMID:25950606, PMID:26416826, PMID:27387040, PMID:28492532 NCBI chr 2:205,207,799...205,215,199
Ensembl chr 2:205,207,799...205,212,681
JBrowse link
congenital nongoitrous hypothyroidism 5 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Nkx2-5 NK2 homeobox 5 ISO ClinVar Annotator: match by term: Hypothyroidism, congenital, nongoitrous, 5 OMIM
ClinVar
PMID:10587520, PMID:10903346, PMID:11714651, PMID:14607454, PMID:16418214, PMID:17891434, PMID:19073351, PMID:19464101, PMID:19533775, PMID:19948535, PMID:20456451, PMID:20807224, PMID:23285148, PMID:23661673, PMID:24033266, PMID:24376681, PMID:25741868, PMID:28492532 NCBI chr10:16,635,989...16,638,758
Ensembl chr10:16,635,989...16,638,764
JBrowse link
congenital nongoitrous hypothyroidism 6 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Nr1d1 nuclear receptor subfamily 1, group D, member 1 ISO ClinVar Annotator: match by term: Hypothyroidism, congenital, nongoitrous, 6 ClinVar PMID:11075809, PMID:25741868 NCBI chr10:86,683,875...86,690,815
Ensembl chr10:86,683,875...86,690,815
JBrowse link
G Thra thyroid hormone receptor alpha ISO ClinVar Annotator: match by term: Hypothyroidism, congenital, nongoitrous, 6 OMIM
ClinVar
PMID:11075809, PMID:22168587, PMID:22494134, PMID:25326635, PMID:25670821, PMID:25741868, PMID:28492532 NCBI chr10:86,657,285...86,684,935
Ensembl chr10:86,657,285...86,684,933
JBrowse link
congenital nongoitrous hypothyroidism 7 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Trhr thyrotropin releasing hormone receptor ISO ClinVar Annotator: match by term: HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 7 OMIM
ClinVar
PMID:9141550, PMID:19213692, PMID:25741868, PMID:26735259, PMID:28419241 NCBI chr 7:83,113,641...83,153,520
Ensembl chr 7:83,113,672...83,153,519
JBrowse link
congenital nongoitrous hypothyroidism 8 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tbl1x transducin (beta)-like 1 X-linked ISO ClinVar Annotator: match by term: HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 8 OMIM
ClinVar
PMID:25741868, PMID:27603907, PMID:30591955 NCBI chr  X:44,959,883...44,988,551
Ensembl chr  X:44,830,849...44,988,551
JBrowse link
congenital nongoitrous hypothyroidism 9 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Irs4 insulin receptor substrate 4 ISO ClinVar Annotator: match by term: HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 9 OMIM
ClinVar
PMID:30061370 NCBI chr  X:113,003,824...113,018,088 JBrowse link
Gigantism term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ankrd26 ankyrin repeat domain 26 ISO RGD PMID:18162531 RGD:9681744 NCBI chr 4:150,548,656...150,616,928
Ensembl chr 4:150,547,467...150,616,895
JBrowse link
G Nsd1 nuclear receptor binding SET domain protein 1 ISO DNA:missense mutation:cds:6605G>A(p.C2202Y)(human) RGD PMID:16222665 RGD:11568154 NCBI chr17:9,840,859...9,955,391
Ensembl chr17:9,844,133...9,952,898
JBrowse link
Growth Hormone Excess term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Men1 menin 1 ISO ClinVar Annotator: match by term: Growth hormone excess ClinVar PMID:25741868, PMID:30311386 NCBI chr 1:221,704,394...221,710,343
Ensembl chr 1:221,704,493...221,710,331
JBrowse link
Idiopathic Short Stature, Autosomal term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ghr growth hormone receptor ISO ClinVar Annotator: match by term: Short stature, idiopathic, autosomal
ClinVar Annotator: match by OMIM:604271
OMIM
ClinVar
PMID:7565946, PMID:8504296, PMID:9140387, PMID:9814495, PMID:12217488, PMID:17274879, PMID:17462934, PMID:21525302, PMID:21846964, PMID:21900382, PMID:24150201, PMID:25741868, PMID:26467025, PMID:27408750, PMID:28492532, PMID:28498917 NCBI chr 2:53,149,225...53,413,954
Ensembl chr 2:53,150,370...53,413,638
JBrowse link
G Ghsr growth hormone secretagogue receptor ISO ClinVar Annotator: match by term: Short stature, idiopathic, autosomal ClinVar NCBI chr 2:113,065,953...113,071,265
Ensembl chr 2:113,066,885...113,070,261
JBrowse link
G Igfals insulin-like growth factor binding protein, acid labile subunit ISO DNA:missense mutation:exon:p.L127P (c.380T>C) (human) RGD PMID:23488611 RGD:12910853 NCBI chr10:14,240,308...14,243,554
Ensembl chr10:14,240,219...14,243,597
JBrowse link
G Spag17 sperm associated antigen 17 ISO DNA:snp:enhancer:C>G (rs17038182) (human) RGD PMID:19893584 RGD:11535959 NCBI chr 2:202,159,659...202,452,361
Ensembl chr 2:202,200,797...202,443,026
JBrowse link
isolated growth hormone deficiency term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cep85l centrosomal protein 85-like ISO ClinVar Annotator: match by term: Growth hormone deficiency ClinVar NCBI chr20:34,574,043...34,743,142
Ensembl chr20:34,575,950...34,684,418
JBrowse link
G Gh1 growth hormone 1 ISO DNA:deletions: :
ClinVar Annotator: match by term: Growth hormone deficiency
ClinVar PMID:9152628, PMID:12655556, PMID:12655557, PMID:13572267, PMID:15001589, PMID:16741161, PMID:17223997, PMID:18160466, PMID:18473352, PMID:18785993, PMID:18950677, PMID:23182822, PMID:24635352, PMID:25741868, PMID:26467025, PMID:28492532, PMID:27114065 RGD:12904703 NCBI chr10:94,486,204...94,488,181
Ensembl chr10:94,486,205...94,488,180
JBrowse link
G Ghr growth hormone receptor ISO Laron syndrome,OMIM:262500;DNA:deletion RGD PMID:2813379 RGD:1601315 NCBI chr 2:53,149,225...53,413,954
Ensembl chr 2:53,150,370...53,413,638
JBrowse link
G Ghrhr growth hormone releasing hormone receptor ISO
IAGP
isolated growth hormone deficiency IB,OMIM:262400;DNA:point mutation:exon:E72X
ClinVar Annotator: match by term: Isolated growth hormone deficiency
DNA:deletion
ClinVar PMID:8528260, PMID:9845677 RGD:1601337, RGD:1601338 NCBI chr 4:85,587,321...85,602,389
Ensembl chr 4:85,588,595...85,601,666
JBrowse link
G Ghsr growth hormone secretagogue receptor IEP mRNA:increased expression:pituitary: RGD PMID:9822798 RGD:12904721 NCBI chr 2:113,065,953...113,071,265
Ensembl chr 2:113,066,885...113,070,261
JBrowse link
G Hpca hippocalcin ISO protein:altered expression:cerebral cortex, cerebellum, hippocampus (mouse) RGD PMID:7882001 RGD:9693682 NCBI chr 5:147,295,124...147,305,757
Ensembl chr 5:147,294,820...147,303,346
JBrowse link
G Igfals insulin-like growth factor binding protein, acid labile subunit ISO protein:decreased expression:serum RGD PMID:11248743 RGD:12910859 NCBI chr10:14,240,308...14,243,554
Ensembl chr10:14,240,219...14,243,597
JBrowse link
G Pln phospholamban ISO ClinVar Annotator: match by term: Growth hormone deficiency ClinVar NCBI chr20:34,633,157...34,642,904
Ensembl chr20:34,633,157...34,642,904
JBrowse link
G Pou1f1 POU class 1 homeobox 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:9392392 NCBI chr11:2,645,659...2,662,581
Ensembl chr11:2,645,865...2,662,579
JBrowse link
G Tg thyroglobulin IAGP RGD PMID:11089535, PMID:3366187 RGD:730133, RGD:12880373 NCBI chr 7:107,467,260...107,652,897
Ensembl chr 7:107,467,260...107,652,899
JBrowse link
G Tgrdw thyroglobulin; rdw mutant IAGP RGD PMID:11089535, PMID:3366187 RGD:730133, RGD:12880373
isolated growth hormone deficiency type IA term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Brca2 BRCA2, DNA repair associated ISO ClinVar Annotator: match by term: Primordial dwarfism ClinVar PMID:24389050, PMID:25558065 NCBI chr12:503,660...544,754
Ensembl chr12:504,007...544,748
JBrowse link
G Cript CXXC repeat containing interactor of PDZ3 domain ISO ClinVar Annotator: match by synonym: Primordial Dwarfism
ClinVar Annotator: match by term: Primordial Dwarfism
ClinVar PMID:24389050, PMID:25558065 NCBI chr 6:10,594,147...10,602,103
Ensembl chr 6:10,594,122...10,602,085
JBrowse link
G Dna2 DNA replication helicase/nuclease 2 ISO DNA:mutation:cds: RGD PMID:24389050 RGD:8694132
G Gh1 growth hormone 1 ISO ClinVar Annotator: match by OMIM:262400
ClinVar Annotator: match by term: Pituitary dwarfism 1
ClinVar Annotator: match by term: PITUITARY DWARFISM I
DNA:deletion: :
ClinVar Annotator: match by term: Isolated growth hormone deficiency type 1B
ClinVar
OMIM
PMID:2347891, PMID:8364549, PMID:8496314, PMID:9152628, PMID:10678654, PMID:10689634, PMID:12655557, PMID:15001589, PMID:18160466, PMID:18950677, PMID:25741868, PMID:26467025, PMID:28492532, PMID:14594175 RGD:12904729 NCBI chr10:94,486,204...94,488,181
Ensembl chr10:94,486,205...94,488,180
JBrowse link
G Ghrh growth hormone releasing hormone ISS OMIM:262400 MouseDO NCBI chr 3:153,449,124...153,468,794
Ensembl chr 3:153,449,125...153,468,794
JBrowse link
G Ghrhr growth hormone releasing hormone receptor ISO ClinVar Annotator: match by term: Isolated growth hormone deficiency type 1B ClinVar PMID:10944436, PMID:10946881, PMID:11298081, PMID:11502843, PMID:12163232, PMID:12181638, PMID:12414875, PMID:16284391, PMID:18297129, PMID:19622623, PMID:21044116, PMID:22489751, PMID:25541890, PMID:28492532 NCBI chr 4:85,587,321...85,602,389
Ensembl chr 4:85,588,595...85,601,666
JBrowse link
G Poc1a POC1 centriolar protein A ISO ClinVar Annotator: match by term: Primordial dwarfism ClinVar PMID:22840364, PMID:25558065, PMID:25741868 NCBI chr 8:114,982,764...115,050,844
Ensembl chr 8:114,986,326...115,050,728
JBrowse link
G Xrcc4 X-ray repair cross complementing 4 ISO ClinVar Annotator: match by term: PITUITARY DWARFISM I ClinVar PMID:24389050, PMID:25558065, PMID:25728776, PMID:26255102 NCBI chr 2:18,674,496...18,927,463
Ensembl chr 2:18,677,220...18,927,365
JBrowse link
isolated growth hormone deficiency type IB term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gh1 growth hormone 1 ISO ClinVar Annotator: match by term: Isolated Growth Hormone Deficiency, Type IB OMIM
ClinVar
PMID:9152628, PMID:12655557, PMID:15001589, PMID:18160466, PMID:18950677, PMID:26467025, PMID:28492532 NCBI chr10:94,486,204...94,488,181
Ensembl chr10:94,486,205...94,488,180
JBrowse link
G Ghrhr growth hormone releasing hormone receptor ISO ClinVar Annotator: match by term: Idiopathic growth hormone deficiency
ClinVar Annotator: match by term: DWARFISM OF SINDH
ClinVar PMID:8528260, PMID:9467553, PMID:9814493, PMID:10084571, PMID:10566659, PMID:10944436, PMID:10946881, PMID:11232012, PMID:11298081, PMID:11443201, PMID:11502843, PMID:11875102, PMID:12163232, PMID:12181638, PMID:12414875, PMID:12788864, PMID:12794696, PMID:16284391, PMID:16522693, PMID:17356054, PMID:17911170, PMID:18297129, PMID:19622623 NCBI chr 4:85,587,321...85,602,389
Ensembl chr 4:85,588,595...85,601,666
JBrowse link
isolated growth hormone deficiency type II term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gh1 growth hormone 1 ISO ClinVar Annotator: match by OMIM:173100
ClinVar Annotator: match by term: Pituitary dwarfism due to isolated growth hormone deficiency autosomal dominant
ClinVar Annotator: match by term: IGHD II
ClinVar
OMIM
PMID:7567462, PMID:7714096, PMID:8530604, PMID:8923859, PMID:9152628, PMID:9175738, PMID:9432120, PMID:9554464, PMID:9578959, PMID:9700205, PMID:9799079, PMID:10372722, PMID:10445339, PMID:10469016, PMID:10549303, PMID:10629163, PMID:10698162, PMID:11502827, PMID:11502836, PMID:11836331, PMID:11914025, PMID:12000366, PMID:12399418, PMID:12510984, PMID:12574219, PMID:12655557, PMID:12720086, PMID:15001589, PMID:15671105, PMID:16368751, PMID:16491012, PMID:17038549, PMID:17073157, PMID:17178704, PMID:17336732, PMID:17360215, PMID:17726075, PMID:17785368, PMID:18160466, PMID:18473352, PMID:18554279, PMID:18785993, PMID:18950677, PMID:20351314, PMID:23736291, PMID:26467025, PMID:27253996, PMID:28492532, PMID:28626954, PMID:29739035 NCBI chr10:94,486,204...94,488,181
Ensembl chr10:94,486,205...94,488,180
JBrowse link
isolated growth hormone deficiency type III term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Btk Bruton tyrosine kinase ISO ClinVar Annotator: match by term: X-linked agammaglobulinemia with growth hormone deficiency
ClinVar Annotator: match by term: IGHD III
ClinVar Annotator: match by OMIM:307200
OMIM
ClinVar
PMID:3486747, PMID:7633420, PMID:7633429, PMID:7678697, PMID:7711734, PMID:7809124, PMID:7849697, PMID:7849721, PMID:7880320, PMID:8013627, PMID:8090769, PMID:8162018, PMID:8162056, PMID:8332900, PMID:8332901, PMID:8380905, PMID:8562928, PMID:8594569, PMID:8644706, PMID:8695804, PMID:8723128, PMID:8834236, PMID:8938104, PMID:8939985, PMID:9106525, PMID:9143921, PMID:9188445, PMID:9192269, PMID:9260159, PMID:9445504, PMID:9524120, PMID:9545398, PMID:9880544, PMID:10092645, PMID:10373551, PMID:10737994, PMID:10844531, PMID:10859027, PMID:11206059, PMID:11410123, PMID:11438999, PMID:11445810, PMID:11472359, PMID:11527964, PMID:11668622, PMID:11742281, PMID:12204007, PMID:12217331, PMID:12405164, PMID:12655572, PMID:14974089, PMID:15661032, PMID:16159644, PMID:16297664, PMID:16712653, PMID:16862044, PMID:16943681, PMID:16951917, PMID:17045652, PMID:17327079, PMID:17765309, PMID:18241230, PMID:18518992, PMID:18677443, PMID:19039656, PMID:19419768, PMID:19904586, PMID:20529312, PMID:21039741, PMID:21520333, PMID:23335184, PMID:23424595, PMID:24001798, PMID:24033266, PMID:24586880, PMID:24869598, PMID:24885015, PMID:25082755, PMID:25189416, PMID:25270678, PMID:25741868, PMID:25777788, PMID:26915675, PMID:27199251, PMID:27512878, PMID:27577878, PMID:27593100, PMID:27980540, PMID:28049639, PMID:28212557, PMID:28359783, PMID:28398200, PMID:28418267, PMID:28492532, PMID:29424453, PMID:29496671, PMID:29503650, PMID:29875397, PMID:30018078, PMID:30072168, PMID:30290665, PMID:30311057, PMID:30564228 NCBI chr  X:105,360,922...105,390,580
Ensembl chr  X:105,360,922...105,390,580
JBrowse link
Isolated Growth Hormone Deficiency Type V term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Rnpc3 RNA-binding region (RNP1, RRM) containing 3 ISO ClinVar Annotator: match by term: ISOLATED GROWTH HORMONE DEFICIENCY, TYPE V ClinVar
OMIM
PMID:24480542, PMID:29255062 NCBI chr 2:216,481,457...216,510,051
Ensembl chr 2:216,481,436...216,509,827
JBrowse link
Isolated Growth Hormone Deficiency, Partial term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ghsr growth hormone secretagogue receptor ISO ClinVar Annotator: match by term: Short stature due to growth hormone secretagogue receptor deficiency ClinVar
OMIM
PMID:16511605, PMID:19789204, PMID:21646290, PMID:25741868, PMID:26094658, PMID:27023906, PMID:28492532 NCBI chr 2:113,065,953...113,071,265
Ensembl chr 2:113,066,885...113,070,261
JBrowse link
Kowarski Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gh1 growth hormone 1 ISO DNA:point mutation:exon:p.D122G (human)
ClinVar Annotator: match by term: Kowarski syndrome
ClinVar Annotator: match by OMIM:262650
ClinVar
OMIM
PMID:8552145, PMID:9152628, PMID:9276733, PMID:12655557, PMID:15001589, PMID:15713716, PMID:17519310, PMID:18160466, PMID:18950677, PMID:26467025, PMID:28492532, PMID:9276733 RGD:1601313 NCBI chr10:94,486,204...94,488,181
Ensembl chr10:94,486,205...94,488,180
JBrowse link
Mental Retardation, X-Linked, with Isolated Growth Hormone Deficiency term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Sox3 SRY-box transcription factor 3 ISO ClinVar Annotator: match by term: Mental retardation, X-linked, with isolated growth hormone deficiency
DNA:duplication:cds:c.712_744dup (human)
ClinVar PMID:8826446, PMID:12428212, PMID:12428212 RGD:11535974 NCBI chr  X:144,035,162...144,037,364
Ensembl chr  X:144,035,883...144,037,294
JBrowse link
neonatal diabetes mellitus with congenital hypothyroidism term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Glis3 GLIS family zinc finger 3 ISO ClinVar Annotator: match by term: Diabetes mellitus, neonatal, with congenital hypothyroidism
ClinVar Annotator: match by OMIM:610199
ClinVar Annotator: match by null
OMIM
ClinVar
PMID:12966531, PMID:16715098, PMID:18263616, PMID:18414213, PMID:23856252, PMID:24033266, PMID:25741868, PMID:26259131, PMID:28253873, PMID:28492532 NCBI chr 1:246,380,816...246,564,385
Ensembl chr 1:246,380,889...246,785,360
JBrowse link
Pendred syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Foxi1 forkhead box I1 ISO ClinVar Annotator: match by OMIM:274600
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
PMID:17503324 NCBI chr10:19,160,566...19,164,505
Ensembl chr10:19,160,582...19,164,505
JBrowse link
G Kcnj10 potassium inwardly-rectifying channel, subfamily J, member 10 ISO ClinVar Annotator: match by OMIM:274600
ClinVar Annotator: match by term: Pendred's syndrome
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
PMID:23869231, PMID:25741868, PMID:27677466, PMID:27875746, PMID:28492532 NCBI chr13:90,722,945...90,753,338
Ensembl chr13:90,723,092...90,752,581
JBrowse link
G Slc26a4 solute carrier family 26 member 4 ISO ClinVar Annotator: match by term: Pendred syndrome
ClinVar Annotator: match by term: Pendred's syndrome
ClinVar Annotator: match by term: Goiter-deafness syndrome
ClinVar Annotator: match by term: THYROID HORMONOGENESIS, GENETIC DEFECT IN, 2B
ClinVar Annotator: match by OMIM:274600
CTD Direct Evidence: marker/mechanism
DNA:mutations:multiple (human)
OMIM
ClinVar
CTD
PMID:2422447, PMID:8541853, PMID:8630498, PMID:9070918, PMID:9398842, PMID:9500541, PMID:9604973, PMID:9618166, PMID:9618167, PMID:9920104, PMID:10190331, PMID:10571950, PMID:10602116, PMID:10644529, PMID:10700480, PMID:10718825, PMID:10861298, PMID:10874637, PMID:10878664, PMID:10902795, PMID:11317356, PMID:11375792, PMID:11405873, PMID:11502831, PMID:11700190, PMID:11716048, PMID:11748854, PMID:11919333, PMID:11932316, PMID:12112665, PMID:12354788, PMID:12642503, PMID:12676893, PMID:12788906, PMID:12920581, PMID:12974744, PMID:14508505, PMID:14679580, PMID:14715652, PMID:15099345, PMID:15279074, PMID:15355436, PMID:15531480, PMID:15574297, PMID:15611902, PMID:15679828, PMID:15689455, PMID:15720248, PMID:15747138, PMID:15811013, PMID:15933521, PMID:16053392, PMID:16275403, PMID:16283880, PMID:16460646, PMID:16482981, PMID:16570074, PMID:16684826, PMID:16711435, PMID:16773579, PMID:16791000, PMID:16914891, PMID:16924389, PMID:16950989, PMID:16952406, PMID:17146393, PMID:17309986, PMID:17322586, PMID:17357124, PMID:17443271, PMID:17503324, PMID:17697873, PMID:17718863, PMID:17766716, PMID:17851929, PMID:17876604, PMID:17940114, PMID:18075246, PMID:18167283, PMID:18250610, PMID:18274916, PMID:18283249, PMID:18285825, PMID:18310264, PMID:18322141, PMID:18427006, PMID:18585793, PMID:18641518, PMID:18813951, PMID:18988928, PMID:19017801, PMID:19040761, PMID:19169484, PMID:19199245, PMID:19204907, PMID:19287372, PMID:19318451, PMID:19426954, PMID:19429184, PMID:19509082, PMID:19565036, PMID:19578036, PMID:19608655, PMID:19615760, PMID:19620588, PMID:19645628, PMID:19648736, PMID:19718752, PMID:19744334, PMID:19786220, PMID:19787632, PMID:19888295, PMID:20128824, PMID:20137612, PMID:20146813, PMID:20301640, PMID:20553101, PMID:20583162, PMID:20597900, PMID:20601923, PMID:20621367, PMID:20668687, PMID:20826203, PMID:20842945, PMID:20981092, PMID:21045265, PMID:21154317, PMID:21366435, PMID:21551164, PMID:21557232, PMID:21704276, PMID:21811566, PMID:21961810, PMID:22116358, PMID:22116359, PMID:22116360, PMID:22285650, PMID:22289209, PMID:22384008, PMID:22389666, PMID:22412181, PMID:22717225, PMID:22796198, PMID:22884721, PMID:22903915, PMID:22975760, PMID:23151025, PMID:23151031, PMID:23185506, PMID:23208854, PMID:23266159, PMID:23273637, PMID:23280318, PMID:23296490, PMID:23336812, PMID:23385134, PMID:23401162, PMID:23504402, PMID:23555729, PMID:23617710, PMID:23638949, PMID:23705809, PMID:23718755, PMID:23770805, PMID:23838540, PMID:23918157, PMID:23958391, PMID:23965030, PMID:23967202, PMID:23980138, PMID:24007330, PMID:24033266, PMID:24051746, PMID:24105851, PMID:24156272, PMID:24224479, PMID:24248179, PMID:24338212, PMID:24341454, PMID:24599119, PMID:24612839, PMID:24804242, PMID:24860705, PMID:24875928, PMID:24913939, PMID:24949729, PMID:25015771, PMID:25149764, PMID:25214170, PMID:25262649, PMID:25266519, PMID:25290043, PMID:25358692, PMID:25372295, PMID:25373420, PMID:25394566, PMID:25468468, PMID:25488846, PMID:25491636, PMID:25525159, PMID:25724631, PMID:25741868, PMID:25761933, PMID:25788563, PMID:25910213, PMID:25991456, PMID:25999548, PMID:26022370, PMID:26035154, PMID:26100058, PMID:26188157, PMID:26226137, PMID:26252218, PMID:26346818, PMID:26397989, PMID:26445815, PMID:26467025, PMID:26485571, PMID:26549381, PMID:26683941, PMID:26744121, PMID:26752218, PMID:26763877, PMID:26764160, PMID:26886089, PMID:26894580, PMID:26969326, PMID:27068579, PMID:27090054, PMID:27214836, PMID:27240500, PMID:27247933, PMID:27344577, PMID:27373559, PMID:27541434, PMID:27573290, PMID:27771369, PMID:27792752, PMID:27861301, PMID:27863619, PMID:27884173, PMID:28000701, PMID:28273078, PMID:28281779, PMID:28389359, PMID:28444304, PMID:28492532, PMID:28604962, PMID:28717060, PMID:28786104, PMID:28901477, PMID:28964290, PMID:28984810, PMID:29048421, PMID:29196752, PMID:29293505, PMID:29372807, PMID:29546359, PMID:29739340, PMID:30068397, PMID:30077349, PMID:30113565, PMID:30139988, PMID:30240412, PMID:30245029, PMID:30268946, PMID:30311386, PMID:30484383, PMID:30622556, PMID:30693673, PMID:30760291, PMID:31599023, PMID:15355436, PMID:14508505, PMID:11152663 RGD:7421514, RGD:7421510, RGD:7411554 NCBI chr 6:50,809,103...50,848,443
Ensembl chr 6:50,808,923...50,846,965
JBrowse link
Rahman Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G H1f4 H1.4 linker histone, cluster member ISO ClinVar Annotator: match by term: RAHMAN SYNDROME ClinVar
OMIM
PMID:23945933, PMID:25081361, PMID:25741868, PMID:25741869, PMID:28475857 NCBI chr17:43,734,461...43,735,120
Ensembl chr17:43,734,461...43,735,120
JBrowse link
Simpson-Golabi-Behmel syndrome type 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gpc3 glypican 3 ISO ClinVar Annotator: match by term: Simpson-Golabi-Behmel syndrome
ClinVar Annotator: match by OMIM:312870
OMIM
ClinVar
PMID:9950367, PMID:10814714, PMID:16158429, PMID:17603795, PMID:17850639, PMID:18203194, PMID:19215053, PMID:23606591, PMID:24459012, PMID:25741868, PMID:26321508, PMID:28492532 NCBI chr  X:139,579,268...139,947,093
Ensembl chr  X:139,579,268...139,916,883
JBrowse link
G Gpc4 glypican 4 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr  X:139,354,325...139,464,876
Ensembl chr  X:139,354,155...139,464,798
JBrowse link
G Retsat retinol saturase ISO CTD Direct Evidence: marker/mechanism CTD PMID:19139408 NCBI chr 4:100,465,365...100,474,128
Ensembl chr 4:100,465,170...100,474,301
JBrowse link
Tatton-Brown-Rahman Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dnmt3a DNA methyltransferase 3 alpha ISO ClinVar Annotator: match by term: Tatton-Brown-rahman syndrome OMIM
ClinVar
PMID:1423634, PMID:2717398, PMID:10325416, PMID:10433969, PMID:10555141, PMID:10647011, PMID:11399089, PMID:12138111, PMID:12359337, PMID:12575993, PMID:15063176, PMID:15672446, PMID:15739230, PMID:16357870, PMID:16501171, PMID:16725135, PMID:17445268, PMID:17878930, PMID:19344873, PMID:19854944, PMID:20228804, PMID:20651149, PMID:20729844, PMID:21067377, PMID:21507354, PMID:21518476, PMID:21844811, PMID:22160010, PMID:22495306, PMID:22722925, PMID:22744846, PMID:22898539, PMID:23849776, PMID:24606448, PMID:24614070, PMID:24622842, PMID:24656771, PMID:24728327, PMID:25741868, PMID:26619011, PMID:26866722, PMID:26876596, PMID:27317772, PMID:27701732, PMID:27991732, PMID:28263302, PMID:28386848, PMID:28475857, PMID:28492532, PMID:28667884, PMID:28941052, PMID:29900417, PMID:32860008 NCBI chr 6:28,205,375...28,346,052
Ensembl chr 6:28,235,695...28,340,577
JBrowse link
G Dpp6 dipeptidyl peptidase like 6 ISO ClinVar Annotator: match by term: Tatton-Brown-rahman syndrome ClinVar PMID:25741868 NCBI chr 4:4,021,021...4,943,675
Ensembl chr 4:4,021,008...4,473,307
JBrowse link
G Eif3f eukaryotic translation initiation factor 3, subunit F ISO ClinVar Annotator: match by term: Tatton-Brown-rahman syndrome ClinVar PMID:25741868, PMID:30311386, PMID:30409806 NCBI chr 1:173,532,826...173,541,806
Ensembl chr 1:173,532,803...173,541,847
JBrowse link
Tenorio Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Rnf125 ring finger protein 125 ISO ClinVar Annotator: match by term: Tenorio syndrome OMIM
ClinVar
PMID:25196541, PMID:25741868, PMID:28492532 NCBI chr18:15,193,226...15,225,454
Ensembl chr18:15,192,962...15,225,427
JBrowse link
THAUVIN-ROBINET-FAIVRE SYNDROME term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fibp FGF1 intracellular binding protein ISO ClinVar Annotator: match by term: THAUVIN-ROBINET-FAIVRE SYNDROME
ClinVar Annotator: match by term: Thauvin-Robinet-Faivre syndrome
ClinVar Annotator: match by term: Thauvin-robinet-faivre syndrome
ClinVar
OMIM
PMID:26660953, PMID:27183861 NCBI chr 1:220,840,078...220,844,412
Ensembl chr 1:220,840,118...220,844,405
JBrowse link
Thyroid Dyshormonogenesis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Slc5a5 solute carrier family 5 member 5 ISO ClinVar Annotator: match by term: Thyroid Hormonogenesis Defect ClinVar NCBI chr16:20,297,414...20,307,401
Ensembl chr16:20,297,414...20,307,400
JBrowse link
G Tg thyroglobulin ISO ClinVar Annotator: match by term: Thyroid dyshormonogenesis ClinVar NCBI chr 7:107,467,260...107,652,897
Ensembl chr 7:107,467,260...107,652,899
JBrowse link
Thyroid Dyshormonogenesis 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Slc5a5 solute carrier family 5 member 5 ISO ClinVar Annotator: match by term: Thyroid dyshormonogenesis 1
ClinVar Annotator: match by OMIM:274400
OMIM
ClinVar
PMID:3451231, PMID:3998954, PMID:9171822, PMID:9388506, PMID:9398697, PMID:9486973, PMID:9657379, PMID:9709973, PMID:9745458, PMID:9814502, PMID:10487695, PMID:12161518, PMID:21565787, PMID:25741868, PMID:28492532 NCBI chr16:20,297,414...20,307,401
Ensembl chr16:20,297,414...20,307,400
JBrowse link
Thyroid Dyshormonogenesis 2A term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tpo thyroid peroxidase ISO ClinVar Annotator: match by term: THYROID PEROXIDASE DEFICIENCY
ClinVar Annotator: match by term: IODIDE PEROXIDASE DEFICIENCY
ClinVar Annotator: match by OMIM:274500
OMIM
ClinVar
PMID:1401057, PMID:7550241, PMID:8027236, PMID:8964831, PMID:9024270, PMID:9814507, PMID:10084596, PMID:10468986, PMID:11061528, PMID:11238503, PMID:11916616, PMID:12213873, PMID:12843174, PMID:14751036, PMID:15055360, PMID:15279913, PMID:15745925, PMID:16684826, PMID:17468186, PMID:18029453, PMID:23236987, PMID:23512414, PMID:24482635, PMID:24790296, PMID:25241611, PMID:25741868, PMID:26565538, PMID:27373559, PMID:27525530, PMID:27617131, PMID:28492532, PMID:30240412, PMID:30311386 NCBI chr 6:49,020,918...49,089,855
Ensembl chr 6:49,021,044...49,089,855
JBrowse link
Thyroid Dyshormonogenesis 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Sla src-like adaptor ISO ClinVar Annotator: match by term: THYROID HORMONOGENESIS, GENETIC DEFECT IN, 3 ClinVar PMID:25741868, PMID:28492532 NCBI chr 7:107,585,055...107,604,950
Ensembl chr 7:107,584,118...107,634,335
JBrowse link
G Tg thyroglobulin ISO ClinVar Annotator: match by term: THYROID HORMONOGENESIS, GENETIC DEFECT IN, 3
ClinVar Annotator: match by OMIM:274700
OMIM
ClinVar
PMID:1752952, PMID:2584351, PMID:7593451, PMID:8094490, PMID:8325944, PMID:9588493, PMID:10199792, PMID:10403171, PMID:10404833, PMID:11484898, PMID:12915634, PMID:14657345, PMID:14764776, PMID:15579800, PMID:15611820, PMID:15769978, PMID:16187910, PMID:16187918, PMID:16403815, PMID:16477365, PMID:16720658, PMID:17033963, PMID:17244789, PMID:19339519, PMID:20410234, PMID:20447071, PMID:20981092, PMID:21128992, PMID:21900383, PMID:21958696, PMID:23164529, PMID:23455760, PMID:23457309, PMID:23535966, PMID:23933148, PMID:24033266, PMID:25741868, PMID:26595189, PMID:26742565, PMID:26777470, PMID:26813946, PMID:27373559, PMID:27498126, PMID:28492532, PMID:29590070, PMID:31042289 NCBI chr 7:107,467,260...107,652,897
Ensembl chr 7:107,467,260...107,652,899
JBrowse link
Thyroid Dyshormonogenesis 4 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Iyd iodotyrosine deiodinase ISO ClinVar Annotator: match by term: Thyroid dyshormonogenesis 4
ClinVar Annotator: match by OMIM:274800
OMIM
ClinVar
PMID:13183981, PMID:13333116, PMID:18434651, PMID:18765512, PMID:25741868 NCBI chr 1:40,086,513...40,100,966
Ensembl chr 1:40,086,470...40,101,840
JBrowse link
Thyroid Dyshormonogenesis 5 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Duoxa2 dual oxidase maturation factor 2 ISO ClinVar Annotator: match by term: Thyroid dyshormonogenesis 5
ClinVar Annotator: match by OMIM:274900
OMIM
ClinVar
PMID:18042646, PMID:23292166, PMID:25741868, PMID:28492532, PMID:32860008 NCBI chr 3:114,236,718...114,240,086
Ensembl chr 3:114,236,718...114,240,086
JBrowse link
Thyroid Dyshormonogenesis 6 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Duox2 dual oxidase 2 ISO ClinVar Annotator: match by term: Thyroid dyshormonogenesis 6
ClinVar Annotator: match by term: Nongoitrous Euthyroid Hyperthyrotropinemia
ClinVar Annotator: match by OMIM:607200
OMIM
ClinVar
PMID:12110737, PMID:16134168, PMID:16322276, PMID:16608528, PMID:17121535, PMID:17374849, PMID:18765513, PMID:19789206, PMID:20187165, PMID:20972728, PMID:21565790, PMID:21900383, PMID:23457309, PMID:24033266, PMID:24423310, PMID:24735383, PMID:25248169, PMID:25741868, PMID:25928756, PMID:26334177, PMID:26349762, PMID:26709262, PMID:26742565, PMID:26990548, PMID:27108200, PMID:27166716, PMID:27498126, PMID:27557340, PMID:27821020, PMID:28492532, PMID:28541007, PMID:28666341, PMID:30154845, PMID:30240412 NCBI chr 3:114,218,187...114,237,808
Ensembl chr 3:114,218,193...114,235,933
JBrowse link
Weaver syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ezh2 enhancer of zeste 2 polycomb repressive complex 2 subunit ISO ClinVar Annotator: match by term: Weaver syndrome
ClinVar Annotator: match by OMIM:277590
ClinVar Annotator: match by null
OMIM
ClinVar
PMID:4366187, PMID:18414213, PMID:22177091, PMID:22190405, PMID:23239504, PMID:23680131, PMID:24214728, PMID:24728327, PMID:25741868, PMID:26380986, PMID:26694085, PMID:28492532 NCBI chr 4:77,284,404...77,347,011
Ensembl chr 4:77,284,404...77,347,011
JBrowse link
G Nsd1 nuclear receptor binding SET domain protein 1 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Weaver syndrome
CTD
ClinVar
PMID:12807965, PMID:18414213, PMID:25741868, PMID:28492532 NCBI chr17:9,840,859...9,955,391
Ensembl chr17:9,844,133...9,952,898
JBrowse link
G Suz12 SUZ12 polycomb repressive complex 2 subunit ISO ClinVar Annotator: match by term: Weaver syndrome ClinVar PMID:25741868, PMID:30019515 NCBI chr10:67,325,101...67,371,588
Ensembl chr10:67,325,347...67,369,668
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16023
    disease of anatomical entity 15278
      endocrine system disease 4997
        Endocrine Bone Diseases 87
          Gigantism + 11
          acromegaly + 4
          congenital hypothyroidism + 46
          isolated growth hormone deficiency + 30
          osteitis fibrosa 0
Path 2
Term Annotations click to browse term
  disease 16023
    disease of anatomical entity 15278
      musculoskeletal system disease 5757
        connective tissue disease 4103
          bone disease 3534
            Endocrine Bone Diseases 87
              Gigantism + 11
              acromegaly + 4
              congenital hypothyroidism + 46
              isolated growth hormone deficiency + 30
              osteitis fibrosa 0
paths to the root

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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.