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ONTOLOGY REPORT - ANNOTATIONS


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.


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Endocrine Bone Diseases term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Pdgfa platelet derived growth factor subunit A JBrowse link 12 17,734,141 17,756,186 RGD:11554173
G Pth parathyroid hormone JBrowse link 1 178,215,829 178,218,761 RGD:11554173
acromegaly term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Gh1 growth hormone 1 JBrowse link 10 94,486,204 94,488,181 RGD:11554173
G Gnas GNAS complex locus JBrowse link 3 172,374,957 172,434,988 RGD:11554173
G Igf1 insulin-like growth factor 1 JBrowse link 7 28,412,123 28,491,815 RGD:11554173
Alazami Syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Larp7 La ribonucleoprotein 7, transcriptional regulator JBrowse link 2 231,866,888 231,882,002 RGD:7240710
RGD:8554872
blepharophimosis-intellectual disability syndrome, SBBYS type term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Dupd1 dual specificity phosphatase and pro isomerase domain containing 1 JBrowse link 15 2,766,929 2,806,573 RGD:8554872
G Kat6b lysine acetyltransferase 6B JBrowse link 15 2,811,933 2,966,833 RGD:9588484
RGD:8554872
RGD:7240710
Brain-Lung-Thyroid Syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Nkx2-1 NK2 homeobox 1 JBrowse link 6 77,418,096 77,423,383 RGD:7240710
RGD:8554872
RGD:12914770
RGD:11073166
RGD:12914769
RGD:12914768
CATARACTS, GROWTH HORMONE DEFICIENCY, SENSORY NEUROPATHY, SENSORINEURAL HEARING LOSS, AND SKELETAL DYSPLASIA term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Iars2 isoleucyl-tRNA synthetase 2, mitochondrial JBrowse link 13 103,229,868 103,265,019 RGD:7240710
RGD:8554872
Combined Pituitary Hormone Deficiency, 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Chmp2b charged multivesicular body protein 2B JBrowse link 11 2,666,405 2,692,213 RGD:8554872
G Lhx3 LIM homeobox 3 JBrowse link 3 3,653,861 3,662,509 RGD:8554872
G Pou1f1 POU class 1 homeobox 1 JBrowse link 11 2,645,659 2,662,581 RGD:8554872
G Prop1 PROP paired-like homeobox 1 JBrowse link 10 36,449,920 36,452,381 RGD:7240710
RGD:8554872
Combined Pituitary Hormone Deficiency, 3 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Lhx3 LIM homeobox 3 JBrowse link 3 3,653,861 3,662,509 RGD:7240710
RGD:8554872
Combined Pituitary Hormone Deficiency, 4 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Acbd6 acyl-CoA binding domain containing 6 JBrowse link 13 73,196,504 73,334,077 RGD:8554872
G Lhx4 LIM homeobox 4 JBrowse link 13 73,348,874 73,400,416 RGD:7240710
RGD:8554872
congenital hypothyroidism term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Arpc5 actin related protein 2/3 complex, subunit 5 JBrowse link 13 70,174,970 70,183,879 RGD:11049475
G Atp5pd ATP synthase peripheral stalk subunit d JBrowse link 10 103,967,340 103,972,552 RGD:11049155
G Bglap bone gamma-carboxyglutamate protein JBrowse link 2 187,741,770 187,748,445 RGD:6483557
G Cep128 centrosomal protein 128 JBrowse link 6 114,759,474 115,158,004 RGD:8554872
G Duox2 dual oxidase 2 JBrowse link 3 114,218,187 114,237,808 RGD:734905
RGD:8554872
RGD:11554173
G Egr1 early growth response 1 JBrowse link 18 27,657,903 27,660,101 RGD:10395304
G Foxe1 forkhead box E1 JBrowse link 5 61,954,549 61,957,357 RGD:13592920
G G6pd glucose-6-phosphate dehydrogenase JBrowse link X 156,274,800 156,293,935 RGD:10449124
G Gh1 growth hormone 1 JBrowse link 10 94,486,204 94,488,181 RGD:10003146
G Ghr growth hormone receptor JBrowse link 2 53,149,225 53,413,954 RGD:10003146
G Igf1 insulin-like growth factor 1 JBrowse link 7 28,412,123 28,491,815 RGD:12910128
G Igsf1 immunoglobulin superfamily, member 1 JBrowse link X 136,792,637 136,808,107 RGD:11554173
G Inhbb inhibin subunit beta B JBrowse link 13 35,436,532 35,442,222 RGD:9743921
G Iyd iodotyrosine deiodinase JBrowse link 1 40,086,513 40,100,966 RGD:8554872
G Nefh neurofilament heavy JBrowse link 14 85,181,572 85,191,557 RGD:9693732
G Nefl neurofilament light JBrowse link 15 44,799,378 44,803,251 RGD:9693732
G Nefm neurofilament medium JBrowse link 15 44,855,307 44,860,604 RGD:9693732
G Ngfr nerve growth factor receptor JBrowse link 10 83,389,828 83,408,061 RGD:10414076
G Pax8 paired box 8 JBrowse link 3 1,527,316 1,586,019 RGD:1600298
RGD:13592920
RGD:8554872
G Ppargc1a PPARG coactivator 1 alpha JBrowse link 14 63,095,291 63,190,688 RGD:10059677
G Runx2 RUNX family transcription factor 2 JBrowse link 9 18,564,743 18,773,092 RGD:13592920
G Slc5a5 solute carrier family 5 member 5 JBrowse link 16 20,297,414 20,307,401 RGD:1624273
G Tg thyroglobulin JBrowse link 7 107,467,260 107,652,897 RGD:13592920
G Tpo thyroid peroxidase JBrowse link 6 49,020,918 49,089,855 RGD:1599648
RGD:8554872
RGD:11554173
G Trhr thyrotropin releasing hormone receptor JBrowse link 7 83,113,641 83,153,520 RGD:13592920
G Tshb thyroid stimulating hormone subunit beta JBrowse link 2 205,207,799 205,215,199 RGD:8554872
G Tshr thyroid stimulating hormone receptor JBrowse link 6 115,170,290 115,306,871 RGD:11554173
RGD:8554872
G Tubb1 tubulin, beta 1 class VI JBrowse link 3 172,550,252 172,558,089 RGD:8554872
congenital nongoitrous hypothyroidism 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Cep128 centrosomal protein 128 JBrowse link 6 114,759,474 115,158,004 RGD:8554872
G Tshr thyroid stimulating hormone receptor JBrowse link 6 115,170,290 115,306,871 RGD:8554872
RGD:7240710
congenital nongoitrous hypothyroidism 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Pax8 paired box 8 JBrowse link 3 1,527,316 1,586,019 RGD:7240710
congenital nongoitrous hypothyroidism 4 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Tshb thyroid stimulating hormone subunit beta JBrowse link 2 205,207,799 205,215,199 RGD:7240710
RGD:8554872
congenital nongoitrous hypothyroidism 5 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Nkx2-5 NK2 homeobox 5 JBrowse link 10 16,635,989 16,638,758 RGD:7240710
RGD:8554872
congenital nongoitrous hypothyroidism 6 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Nr1d1 nuclear receptor subfamily 1, group D, member 1 JBrowse link 10 86,683,875 86,690,815 RGD:8554872
G Thra thyroid hormone receptor alpha JBrowse link 10 86,657,285 86,684,935 RGD:7240710
RGD:8554872
Congenital Nongoitrous Hypothyroidism 7 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Trhr thyrotropin releasing hormone receptor JBrowse link 7 83,113,641 83,153,520 RGD:7240710
RGD:8554872
Congenital Nongoitrous Hypothyroidism 8 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Tbl1x transducin (beta)-like 1 X-linked JBrowse link X 44,959,883 44,988,551 RGD:8554872
RGD:7240710
Congenital Nongoitrous Hypothyroidism 9 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Irs4 insulin receptor substrate 4 JBrowse link X 113,003,824 113,018,088 RGD:7240710
RGD:8554872
Gigantism term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ankrd26 ankyrin repeat domain 26 JBrowse link 4 150,548,656 150,616,928 RGD:9681744
G Nsd1 nuclear receptor binding SET domain protein 1 JBrowse link 17 9,840,859 9,955,391 RGD:11568154
isolated growth hormone deficiency term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Btk Bruton tyrosine kinase JBrowse link X 105,360,922 105,390,580 RGD:8554872
G Gh1 growth hormone 1 JBrowse link 10 94,486,204 94,488,181 RGD:8554872
RGD:12904703
G Ghr growth hormone receptor JBrowse link 2 53,149,225 53,413,954 RGD:1601315
G Ghrhr growth hormone releasing hormone receptor JBrowse link 4 85,587,321 85,602,389 RGD:1601337
RGD:8554872
RGD:1601338
G Ghsr growth hormone secretagogue receptor JBrowse link 2 113,065,953 113,071,265 RGD:12904721
G Hpca hippocalcin JBrowse link 5 147,295,124 147,305,757 RGD:9693682
G Igfals insulin-like growth factor binding protein, acid labile subunit JBrowse link 10 14,240,308 14,243,554 RGD:12910859
G Pou1f1 POU class 1 homeobox 1 JBrowse link 11 2,645,659 2,662,581 RGD:11554173
G Tg thyroglobulin JBrowse link 7 107,467,260 107,652,897 RGD:730133
RGD:12880373
G Tgrdw thyroglobulin; rdw mutant RGD:730133
RGD:12880373
isolated growth hormone deficiency type IA term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Brca2 BRCA2, DNA repair associated JBrowse link 12 503,660 544,754 RGD:8554872
G Cript CXXC repeat containing interactor of PDZ3 domain JBrowse link 6 10,594,147 10,602,103 RGD:8554872
G Dna2 DNA replication helicase/nuclease 2 RGD:8694132
G Gh1 growth hormone 1 JBrowse link 10 94,486,204 94,488,181 RGD:8554872
RGD:12904729
RGD:7240710
G Ghrh growth hormone releasing hormone JBrowse link 3 153,449,124 153,468,794 RGD:13592920
G Ghrhr growth hormone releasing hormone receptor JBrowse link 4 85,587,321 85,602,389 RGD:8554872
G Poc1a POC1 centriolar protein A JBrowse link 8 114,982,764 115,050,844 RGD:8554872
G Xrcc4 X-ray repair cross complementing 4 JBrowse link 2 18,674,496 18,927,463 RGD:8554872
isolated growth hormone deficiency type IB term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Gh1 growth hormone 1 JBrowse link 10 94,486,204 94,488,181 RGD:7240710
RGD:8554872
G Ghrhr growth hormone releasing hormone receptor JBrowse link 4 85,587,321 85,602,389 RGD:8554872
isolated growth hormone deficiency type II term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Gh1 growth hormone 1 JBrowse link 10 94,486,204 94,488,181 RGD:8554872
RGD:7240710
isolated growth hormone deficiency type III term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Btk Bruton tyrosine kinase JBrowse link X 105,360,922 105,390,580 RGD:7240710
RGD:8554872
Isolated Growth Hormone Deficiency Type V term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Rnpc3 RNA-binding region (RNP1, RRM) containing 3 JBrowse link 2 216,481,457 216,510,051 RGD:8554872
RGD:7240710
Kowarski Syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Gh1 growth hormone 1 JBrowse link 10 94,486,204 94,488,181 RGD:1601313
RGD:8554872
RGD:7240710
Mental Retardation, X-Linked, with Isolated Growth Hormone Deficiency term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Sox3 SRY-box transcription factor 3 JBrowse link X 144,035,162 144,037,364 RGD:8554872
RGD:11535974
neonatal diabetes mellitus with congenital hypothyroidism term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Glis3 GLIS family zinc finger 3 JBrowse link 1 246,380,816 246,564,385 RGD:7240710
RGD:8554872
Pendred syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Foxi1 forkhead box I1 JBrowse link 10 19,160,566 19,164,505 RGD:8554872
RGD:11554173
G Kcnj10 potassium inwardly-rectifying channel, subfamily J, member 10 JBrowse link 13 90,722,945 90,753,338 RGD:8554872
RGD:11554173
G Kcnj9 potassium inwardly-rectifying channel, subfamily J, member 9 JBrowse link 13 90,703,046 90,710,148 RGD:8554872
G Slc26a4 solute carrier family 26 member 4 JBrowse link 6 50,809,103 50,848,443 RGD:7240710
RGD:8554872
RGD:11554173
RGD:7421514
RGD:7421510
RGD:7411554
Rahman Syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G H1f4 H1.4 linker histone, cluster member JBrowse link 17 43,734,461 43,735,120 RGD:8554872
RGD:7240710
Short Stature, Idiopathic, Autosomal term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ghr growth hormone receptor JBrowse link 2 53,149,225 53,413,954 RGD:7240710
RGD:8554872
G Ghsr growth hormone secretagogue receptor JBrowse link 2 113,065,953 113,071,265 RGD:8554872
RGD:11554173
G Igfals insulin-like growth factor binding protein, acid labile subunit JBrowse link 10 14,240,308 14,243,554 RGD:12910853
G Spag17 sperm associated antigen 17 JBrowse link 2 202,159,659 202,452,361 RGD:11535959
Simpson-Golabi-Behmel syndrome type 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Gpc3 glypican 3 JBrowse link X 139,579,268 139,947,093 RGD:7240710
RGD:8554872
G Gpc4 glypican 4 JBrowse link X 139,354,325 139,464,876 RGD:11554173
G Retsat retinol saturase JBrowse link 4 100,465,365 100,474,128 RGD:11554173
TATTON-BROWN-RAHMAN SYNDROME term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Dnmt3a DNA methyltransferase 3 alpha JBrowse link 6 28,205,375 28,346,052 RGD:7240710
RGD:8554872
Tenorio Syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Rnf125 ring finger protein 125 JBrowse link 18 15,193,226 15,225,454 RGD:7240710
RGD:8554872
THAUVIN-ROBINET-FAIVRE SYNDROME term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Fibp FGF1 intracellular binding protein JBrowse link 1 220,840,078 220,844,412 RGD:8554872
RGD:7240710
Thyroid Dyshormonogenesis term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Sla src-like adaptor JBrowse link 7 107,585,055 107,604,950 RGD:8554872
G Slc5a5 solute carrier family 5 member 5 JBrowse link 16 20,297,414 20,307,401 RGD:8554872
G Tg thyroglobulin JBrowse link 7 107,467,260 107,652,897 RGD:8554872
Thyroid Dyshormonogenesis 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Slc5a5 solute carrier family 5 member 5 JBrowse link 16 20,297,414 20,307,401 RGD:7240710
RGD:8554872
Thyroid Dyshormonogenesis 2A term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Tpo thyroid peroxidase JBrowse link 6 49,020,918 49,089,855 RGD:7240710
RGD:8554872
Thyroid Dyshormonogenesis 3 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Tg thyroglobulin JBrowse link 7 107,467,260 107,652,897 RGD:7240710
RGD:8554872
Thyroid Dyshormonogenesis 4 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Iyd iodotyrosine deiodinase JBrowse link 1 40,086,513 40,100,966 RGD:7240710
RGD:8554872
Thyroid Dyshormonogenesis 5 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Duoxa2 dual oxidase maturation factor 2 JBrowse link 3 114,236,718 114,240,086 RGD:7240710
RGD:8554872
Thyroid Dyshormonogenesis 6 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Duox2 dual oxidase 2 JBrowse link 3 114,218,187 114,237,808 RGD:7240710
RGD:8554872
Weaver syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ezh2 enhancer of zeste 2 polycomb repressive complex 2 subunit JBrowse link 4 77,284,404 77,347,011 RGD:7240710
RGD:8554872
G Nsd1 nuclear receptor binding SET domain protein 1 JBrowse link 17 9,840,859 9,955,391 RGD:11554173
RGD:8554872
G Suz12 SUZ12 polycomb repressive complex 2 subunit JBrowse link 10 67,325,101 67,371,588 RGD:8554872

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15603
    disease of anatomical entity 14934
      endocrine system disease 4810
        Endocrine Bone Diseases 84
          Gigantism + 11
          acromegaly + 3
          congenital hypothyroidism + 46
          isolated growth hormone deficiency + 28
          osteitis fibrosa 0
Path 2
Term Annotations click to browse term
  disease 15603
    disease of anatomical entity 14934
      musculoskeletal system disease 4302
        connective tissue disease 2790
          bone disease 2242
            Endocrine Bone Diseases 84
              Gigantism + 11
              acromegaly + 3
              congenital hypothyroidism + 46
              isolated growth hormone deficiency + 28
              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.