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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:congenital hypothyroidism
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Accession:DOID:0050328 term browser browse the term
Definition:A hypothyroidism that is present at birth. (DO)
Synonyms:exact_synonym: Cretinism;   Endemic Cretinism;   Fetal Iodine Deficiency Disorder;   congenital myxedema
 narrow_synonym: experimental congenital hypothyroidism
 primary_id: MESH:D003409
 xref: GARD:1487;   ICD10CM:E00.1;   ICD9CM:243;   NCI:C26734;   NCI:C98921;   OMIM:PS275200
For additional species annotation, visit the Alliance of Genome Resources.


show annotations for term's descendants           Sort by:
 
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:16608528 PMID:17121535 PMID:19789206 PMID:20972728 PMID:21565790 PMID:24033266 PMID:24423310 PMID:25741868 PMID:26990548 PMID:27557340 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 Duoxa2 dual oxidase maturation factor 2 ISO ClinVar Annotator: match by term: Congenital hypothyroidism ClinVar PMID:28492532 NCBI chr 3:114,236,718...114,240,086
Ensembl chr 3:114,236,718...114,240,086
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
ClinVar
MouseDO
PMID:16763387 PMID:25146893 PMID:26362610, 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 Slc26a4 solute carrier family 26 member 4 ISO ClinVar Annotator: match by term: Congenital hypothyroidism ClinVar NCBI chr 6:50,809,103...50,848,443
Ensembl chr 6:50,808,923...50,846,965
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
ClinVar Annotator: match by term: Congenital hypothyroidism
ClinVar PMID:3998954 PMID:10487695, 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
ISO
ClinVar Annotator: match by term: Congenital hypothyroidism MouseDO
ClinVar
PMID:8325944 PMID:9588493 PMID:10404833 PMID:11484898 PMID:14764776 PMID:15769978 PMID:16403815 PMID:17532758 PMID:20410234 PMID:21128992 PMID:23164529 PMID:25741868 PMID:28492532 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:12564727 PMID:14751036 PMID:16187919 PMID:17381485 PMID:25741868, 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
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 OMIM:610978
DNA:deletion:exon:p.M29Afs*40 (c.84_90del) (human)
DNA:deletion:exon:p.R165Gfs*32 (c.493delC) (human)
DNA:nonsense mutation:exon:p.S145X (c.609C>A) (human)
DNA:missense mutation exon:p.L224R (c.671T>G) (human)
ClinVar Annotator: match by term: Choreoathetosis, hypothyroidism, and neonatal respiratory distress
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:23911641, PMID:23379327, PMID:18788921, PMID:26839702 RGD:12914768, RGD:12914769, RGD:11073166, RGD:12914770 NCBI chr 6:77,418,096...77,423,383
Ensembl chr 6:77,418,096...77,421,286
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 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 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
ClinVar Annotator: match by term: HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 9
OMIM
ClinVar
PMID:25741868 PMID:30061370 NCBI chr  X:113,003,824...113,018,088 JBrowse link
familial thyroid dyshormonogenesis 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: Familial thyroid dyshormonogenesis ClinVar PMID:12110737 PMID:16322276 PMID:20972728 PMID:21565790 PMID:21900383 PMID:23457309 PMID:24033266 PMID:24423310 PMID:25248169 PMID:25741868 PMID:26709262 PMID:26990548 PMID:27821020 PMID:28492532 PMID:28666341 PMID:30240412 NCBI chr 3:114,218,187...114,237,808
Ensembl chr 3:114,218,193...114,235,933
JBrowse link
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
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: THYROID HORMONOGENESIS, GENETIC DEFECT IN, 2B
ClinVar Annotator: match by term: Goiter-deafness syndrome
ClinVar Annotator: match by term: Pendred's syndrome
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:17125574 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:25528277 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:27997596 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:30303587 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
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:10902780 PMID:12161518 PMID:21565787 PMID:25525159 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 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:18765513 PMID:19789206 PMID:20187165 PMID:20972728 PMID:21565790 PMID:21900383 PMID:23457309 PMID:24033266 PMID:24423310 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:28444304 PMID:28492532 PMID:28541007 PMID:28666341 PMID:29092890 PMID:30022773 PMID:30154845 PMID:30240412 PMID:31030636 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:9536098 PMID:17576681 PMID:18414213 PMID:22177091 PMID:22190405 PMID:23239504 PMID:23680131 PMID:24214728 PMID:24728327 PMID:25741868 PMID:26380986 PMID:26694085 PMID:28166811 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 16909
    physical disorder 2917
      congenital hypothyroidism 46
        Biologically Inactive Thyrotropin 0
        Brain-Lung-Thyroid Syndrome 1
        Congenital Nongoitrous Hypothyroidism + 10
        Hypohidrotic Ectodermal Dysplasia, with Hypothyroidism and Agenesis of the Corpus Callosum 0
        Kocher-Debre-Semelaigne Syndrome 0
        Weaver syndrome 3
        blepharophimosis-intellectual disability syndrome, SBBYS type 2
        familial thyroid dyshormonogenesis + 10
        neonatal diabetes mellitus with congenital hypothyroidism 1
Path 2
Term Annotations click to browse term
  disease 16909
    disease of anatomical entity 16281
      musculoskeletal system disease 5637
        connective tissue disease 3651
          bone disease 2997
            bone development disease 1326
              Dwarfism 488
                congenital hypothyroidism 46
                  Biologically Inactive Thyrotropin 0
                  Brain-Lung-Thyroid Syndrome 1
                  Congenital Nongoitrous Hypothyroidism + 10
                  Hypohidrotic Ectodermal Dysplasia, with Hypothyroidism and Agenesis of the Corpus Callosum 0
                  Kocher-Debre-Semelaigne Syndrome 0
                  Weaver syndrome 3
                  blepharophimosis-intellectual disability syndrome, SBBYS type 2
                  familial thyroid dyshormonogenesis + 10
                  neonatal diabetes mellitus with congenital hypothyroidism 1
paths to the root