ONTOLOGY REPORT - ANNOTATIONS


Term:congenital hypothyroidism
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Accession:DOID:0050328 term browser browse the term
Definition:A condition in infancy or early childhood due to an in-utero deficiency of THYROID HORMONES that can be caused by genetic or environmental factors, such as thyroid dysgenesis or HYPOTHYROIDISM in infants of mothers treated with THIOURACIL during pregnancy. Endemic cretinism is the result of iodine deficiency. Clinical symptoms include severe MENTAL RETARDATION, impaired skeletal development, short stature, and MYXEDEMA.
Synonyms:exact_synonym: Cretinism;   Endemic Cretinism;   Fetal Iodine Deficiency Disorder;   Myxedema, Congenital
 narrow_synonym: experimental congenital hypothyroidism
 primary_id: MESH:D003409
 alt_id: RDO:0002335
 xref: GARD:1487;   OMIM:PS275200
For additional species annotation, visit the Alliance of Genome Resources.


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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 runt-related 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, 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
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
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, 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
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 voltage-gated channel subfamily J member 10 JBrowse link 13 90,722,945 90,753,338 RGD:8554872
RGD:11554173
G Kcnj9 potassium voltage-gated 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
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 14919
    syndrome 4713
      hypothyroidism 136
        congenital hypothyroidism 44
          Biologically Inactive Thyrotropin 0
          Brain-Lung-Thyroid Syndrome 1
          Congenital Nongoitrous Hypothyroidism + 7
          Hypohidrotic Ectodermal Dysplasia, with Hypothyroidism and Agenesis of the Corpus Callosum 0
          Kocher-Debre-Semelaigne Syndrome 0
          Thyroid Dyshormonogenesis + 11
          Weaver syndrome 3
          blepharophimosis-intellectual disability syndrome, SBBYS type 2
          neonatal diabetes mellitus with congenital hypothyroidism 1
Path 2
Term Annotations click to browse term
  disease 14919
    disease of anatomical entity 14083
      musculoskeletal system disease 3995
        connective tissue disease 2584
          bone disease 2124
            bone development disease 894
              Dwarfism 302
                congenital hypothyroidism 44
                  Biologically Inactive Thyrotropin 0
                  Brain-Lung-Thyroid Syndrome 1
                  Congenital Nongoitrous Hypothyroidism + 7
                  Hypohidrotic Ectodermal Dysplasia, with Hypothyroidism and Agenesis of the Corpus Callosum 0
                  Kocher-Debre-Semelaigne Syndrome 0
                  Thyroid Dyshormonogenesis + 11
                  Weaver syndrome 3
                  blepharophimosis-intellectual disability syndrome, SBBYS type 2
                  neonatal diabetes mellitus with congenital hypothyroidism 1
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.