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HUMAN PHENOTYPE - ANNOTATIONS

The Human Phenotype Ontology (HPO) is downloaded weekly from http://compbio.charite.de/hudson/job/hpo/lastStableBuild/artifact/ontology/release/hp.obo. The file downloaded is considered the "last stable build" available for the ontology. For more about the HPO, view their website at http://www.human-phenotype-ontology.org/.
Term:Central hypothyroidism
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Accession:HP:0011787 term browser browse the term
Definition:A type of hypothyroidism due to an insufficient stimulation of an otherwise normal thyroid gland. Central hypothyroidism is caused by either pituitary (secondary hypothyroidism) or hypothalamic (tertiary hypothyroidism) defects.
Synonyms:xref: SNOMEDCT_US:26692000;   UMLS:C0271801

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Central hypothyroidism term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G H CDON cell adhesion associated, oncogene regulated IAGP HPO ORPHA:220386 ORPHA:93924 ORPHA:93925 ORPHA:93926 NCBI chr11:125,956,821...126,063,352
Ensembl chr11:125,955,796...126,063,335 		JBrowse link
G H CPE carboxypeptidase E IAGP HPO OMIM:619326 NCBI chr 4:165,379,008...165,498,547
Ensembl chr 4:165,361,194...165,498,547 		JBrowse link
G H CRIPTO cripto, EGF-CFC family member IAGP HPO ORPHA:220386 ORPHA:93924 ORPHA:93925 ORPHA:93926 NCBI chr 3:46,574,535...46,582,457
Ensembl chr 3:46,574,534...46,582,457 		JBrowse link
G H DISP1 dispatched RND transporter family member 1 IAGP HPO ORPHA:220386 ORPHA:93924 ORPHA:93925 ORPHA:93926 NCBI chr 1:222,815,039...223,005,995
Ensembl chr 1:222,815,022...223,005,995 		JBrowse link
G H DLL1 delta like canonical Notch ligand 1 IAGP HPO ORPHA:220386 ORPHA:93924 ORPHA:93925 ORPHA:93926 NCBI chr 6:170,282,206...170,291,078
Ensembl chr 6:170,282,206...170,306,565 		JBrowse link
G H DMXL2 Dmx like 2 IAGP HPO OMIM:616113 ORPHA:453533 NCBI chr15:51,447,791...51,622,771
Ensembl chr15:51,447,711...51,622,833 		JBrowse link
G H EIF2AK3 eukaryotic translation initiation factor 2 alpha kinase 3 IAGP HPO ORPHA:1667 NCBI chr 2:88,556,741...88,628,145
Ensembl chr 2:88,556,741...88,691,518 		JBrowse link
G H FGF8 fibroblast growth factor 8 IAGP HPO ORPHA:220386 ORPHA:93924 ORPHA:93925 ORPHA:93926 NCBI chr10:101,770,109...101,780,369
Ensembl chr10:101,770,109...101,780,371 		JBrowse link
G H FGFR1 fibroblast growth factor receptor 1 IAGP HPO ORPHA:220386 ORPHA:93924 NCBI chr 8:38,411,143...38,468,635
Ensembl chr 8:38,400,215...38,468,834 		JBrowse link
G H FOXH1 forkhead box H1 IAGP HPO ORPHA:220386 ORPHA:93924 ORPHA:93925 ORPHA:93926 NCBI chr 8:144,473,412...144,475,849
Ensembl chr 8:144,473,412...144,475,849 		JBrowse link
G H GAS1 growth arrest specific 1 IAGP HPO ORPHA:220386 ORPHA:93924 ORPHA:93925 ORPHA:93926 NCBI chr 9:86,944,362...86,947,506
Ensembl chr 9:86,944,362...86,947,506 		JBrowse link
G H GLI2 GLI family zinc finger 2 IAGP HPO ORPHA:220386 ORPHA:93924 ORPHA:93925 ORPHA:93926 NCBI chr 2:120,735,868...120,992,653
Ensembl chr 2:120,735,623...120,992,653 		JBrowse link
G H INSR insulin receptor IAGP HPO ORPHA:508 NCBI chr19:7,112,265...7,294,414
Ensembl chr19:7,112,255...7,294,414 		JBrowse link
G H IRS4 insulin receptor substrate 4 IAGP HPO OMIM:301035 NCBI chr  X:108,719,946...108,736,563
Ensembl chr  X:108,719,946...108,736,563 		JBrowse link
G H KATNIP katanin interacting protein IAGP HPO OMIM:616784 NCBI chr16:27,550,144...27,780,344
Ensembl chr16:27,550,133...27,780,344 		JBrowse link
G H MAGEL2 MAGE family member L2 IAGP HPO ORPHA:177901 ORPHA:177904 ORPHA:398069 ORPHA:98754 NCBI chr15:23,643,549...23,647,867
Ensembl chr15:23,643,549...23,647,867 		JBrowse link
G H NDN necdin, MAGE family member IAGP HPO ORPHA:177901 ORPHA:177904 ORPHA:98754 NCBI chr15:23,685,400...23,687,305
Ensembl chr15:23,685,400...23,687,305 		JBrowse link
G H NEXMIF neurite extension and migration factor IAGP HPO OMIM:300912 NCBI chr  X:74,732,856...74,925,452
Ensembl chr  X:74,732,856...74,925,472 		JBrowse link
G H NIN ninein IAGP HPO OMIM:614851 NCBI chr14:50,719,763...50,831,503
Ensembl chr14:50,719,763...50,831,162 		JBrowse link
G H NODAL nodal growth differentiation factor IAGP HPO ORPHA:220386 ORPHA:93924 ORPHA:93925 ORPHA:93926 NCBI chr10:70,431,936...70,447,951
Ensembl chr10:70,431,936...70,447,951 		JBrowse link
G H OCA2 OCA2 melanosomal transmembrane protein IAGP HPO ORPHA:177901 ORPHA:177904 ORPHA:98754 NCBI chr15:27,719,008...28,099,315
Ensembl chr15:27,754,875...28,099,315 		JBrowse link
G H PLCH1 phospholipase C eta 1 IAGP HPO ORPHA:93925 NCBI chr 3:155,450,934...155,745,071
Ensembl chr 3:155,375,580...155,745,071 		JBrowse link
G H PTCH1 patched 1 IAGP HPO ORPHA:220386 ORPHA:93924 ORPHA:93925 ORPHA:93926 NCBI chr 9:95,442,980...95,516,971
Ensembl chr 9:95,442,980...95,517,057 		JBrowse link
G H ROBO1 roundabout guidance receptor 1 IAGP ClinVar Annotator: match by term: Central hypothyroidism ClinVar
HPO		 PMID:25741868 OMIM:620305 NCBI chr 3:78,597,239...79,767,998
Ensembl chr 3:78,597,239...79,767,998 		JBrowse link
G H RPL10 ribosomal protein L10 IAGP HPO OMIM:300998 NCBI chr  X:154,398,065...154,402,339
Ensembl chr  X:154,389,955...154,409,168 		JBrowse link
G H SETBP1 SET binding protein 1 IAGP HPO ORPHA:798 NCBI chr18:44,680,073...45,068,510
Ensembl chr18:44,680,173...45,068,510 		JBrowse link
G H SHH sonic hedgehog signaling molecule IAGP HPO ORPHA:220386 ORPHA:93924 ORPHA:93925 ORPHA:93926 NCBI chr 7:155,799,980...155,812,463
Ensembl chr 7:155,799,980...155,812,463 		JBrowse link
G H SIM1 SIM bHLH transcription factor 1 IAGP HPO ORPHA:398079 NCBI chr 6:100,385,009...100,464,921
Ensembl chr 6:100,385,009...100,464,921 		JBrowse link
G H SIX3 SIX homeobox 3 IAGP HPO ORPHA:220386 ORPHA:93924 ORPHA:93925 ORPHA:93926 NCBI chr 2:44,941,702...44,946,071
Ensembl chr 2:44,941,702...44,946,071 		JBrowse link
G H SMC1A structural maintenance of chromosomes 1A IAGP HPO ORPHA:220386 NCBI chr  X:53,374,149...53,422,728
Ensembl chr  X:53,374,149...53,422,728 		JBrowse link
G H SNRPN small nuclear ribonucleoprotein polypeptide N IAGP HPO ORPHA:177901 ORPHA:177904 ORPHA:98754 NCBI chr15:24,823,637...24,978,723
Ensembl chr15:24,823,637...24,978,723 		JBrowse link
G H STAG2 STAG2 cohesin complex component IAGP HPO ORPHA:220386 ORPHA:93925 NCBI chr  X:123,960,560...124,102,656
Ensembl chr  X:123,960,212...124,422,664 		JBrowse link
G H STIL STIL centriolar assembly protein IAGP HPO ORPHA:220386 ORPHA:93924 ORPHA:93925 ORPHA:93926 NCBI chr 1:47,250,139...47,314,896
Ensembl chr 1:47,250,139...47,314,892 		JBrowse link
G H TBL1X transducin beta like 1 X-linked IAGP HPO OMIM:301033 NCBI chr  X:9,463,295...9,719,740
Ensembl chr  X:9,463,320...9,741,037 		JBrowse link
G H TGIF1 TGFB induced factor homeobox 1 IAGP HPO ORPHA:220386 ORPHA:93924 ORPHA:93925 ORPHA:93926 NCBI chr18:3,412,009...3,459,978
Ensembl chr18:3,411,608...3,459,978 		JBrowse link
G H ZIC2 Zic family member 2 IAGP HPO ORPHA:220386 ORPHA:93924 ORPHA:93925 ORPHA:93926 NCBI chr13:99,981,784...99,986,765
Ensembl chr13:99,981,784...99,986,765 		JBrowse link
Hypothalamic hypothyroidism term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G H AKT1 AKT serine/threonine kinase 1 IAGP HPO ORPHA:2495 NCBI chr14:104,769,349...104,795,748
Ensembl chr14:104,769,349...104,795,751 		JBrowse link
G H BAP1 BRCA1 associated protein 1 IAGP HPO ORPHA:2495 NCBI chr 3:52,401,008...52,410,008
Ensembl chr 3:52,401,008...52,410,008 		JBrowse link
G H NF2 NF2, moesin-ezrin-radixin like (MERLIN) tumor suppressor IAGP HPO ORPHA:2495 NCBI chr22:29,603,556...29,698,600
Ensembl chr22:29,603,556...29,698,598 		JBrowse link
G H PDGFB platelet derived growth factor subunit B IAGP HPO ORPHA:2495 NCBI chr22:39,223,359...39,244,982
Ensembl chr22:39,223,359...39,244,982 		JBrowse link
G H PIK3CA phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha IAGP HPO ORPHA:2495 NCBI chr 3:179,148,126...179,240,093
Ensembl chr 3:179,148,114...179,240,093 		JBrowse link
G H SMARCB1 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily b, member 1 IAGP HPO ORPHA:2495 NCBI chr22:23,786,966...23,838,009
Ensembl chr22:23,786,931...23,838,009 		JBrowse link
G H SMARCE1 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily e, member 1 IAGP HPO ORPHA:2495 NCBI chr17:40,624,962...40,647,818
Ensembl chr17:40,624,962...40,648,654 		JBrowse link
G H SMO smoothened, frizzled class receptor IAGP HPO ORPHA:2495 NCBI chr 7:129,188,633...129,213,545
Ensembl chr 7:129,188,633...129,213,545 		JBrowse link
G H SUFU SUFU negative regulator of hedgehog signaling IAGP HPO ORPHA:2495 NCBI chr10:102,502,819...102,633,535
Ensembl chr10:102,503,972...102,633,535 		JBrowse link
G H TERT telomerase reverse transcriptase IAGP HPO ORPHA:2495 NCBI chr 5:1,253,167...1,295,068
Ensembl chr 5:1,253,147...1,295,068 		JBrowse link
G H TRAF7 TNF receptor associated factor 7 IAGP HPO ORPHA:2495 NCBI chr16:2,155,782...2,178,129
Ensembl chr16:2,155,698...2,178,129 		JBrowse link
G H TRH thyrotropin releasing hormone IAGP ClinVar Annotator: match by term: Hypothalamic hypothyroidism ClinVar
HPO		 PMID:25741868 OMIM:275120 NCBI chr 3:129,974,720...129,977,935
Ensembl chr 3:129,974,688...129,977,935 		JBrowse link
Pituitary hypothyroidism term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G H AIP aryl hydrocarbon receptor interacting protein IAGP HPO ORPHA:2965 NCBI chr11:67,483,026...67,491,103
Ensembl chr11:67,468,174...67,491,154 		JBrowse link
G H AKT1 AKT serine/threonine kinase 1 IAGP HPO ORPHA:2495 NCBI chr14:104,769,349...104,795,748
Ensembl chr14:104,769,349...104,795,751 		JBrowse link
G H ARNT2 aryl hydrocarbon receptor nuclear translocator 2 IAGP HPO OMIM:615926 NCBI chr15:80,404,382...80,597,933
Ensembl chr15:80,404,350...80,597,933 		JBrowse link
G H BAP1 BRCA1 associated protein 1 IAGP HPO ORPHA:2495 NCBI chr 3:52,401,008...52,410,008
Ensembl chr 3:52,401,008...52,410,008 		JBrowse link
G H BRAF B-Raf proto-oncogene, serine/threonine kinase IAGP HPO ORPHA:54595 NCBI chr 7:140,713,328...140,924,929
Ensembl chr 7:140,719,327...140,924,929 		JBrowse link
G H CDH23 cadherin related 23 IAGP HPO ORPHA:2965 NCBI chr10:71,396,920...71,815,947
Ensembl chr10:71,396,920...71,815,947 		JBrowse link
G H CTNNB1 catenin beta 1 IAGP HPO ORPHA:54595 NCBI chr 3:41,199,505...41,240,443
Ensembl chr 3:41,194,741...41,260,096 		JBrowse link
G H FOXA2 forkhead box A2 IAGP HPO ORPHA:95494 NCBI chr20:22,580,998...22,585,490
Ensembl chr20:22,580,998...22,585,455 		JBrowse link
G H GLI2 GLI family zinc finger 2 IAGP HPO ORPHA:95494 NCBI chr 2:120,735,868...120,992,653
Ensembl chr 2:120,735,623...120,992,653 		JBrowse link
G H GLI3 GLI family zinc finger 3 IAGP HPO ORPHA:672 NCBI chr 7:41,960,949...42,264,268
Ensembl chr 7:41,960,949...42,264,100 		JBrowse link
G H HESX1 HESX homeobox 1 IAGP HPO ORPHA:226307 ORPHA:95494 NCBI chr 3:57,197,838...57,227,615
Ensembl chr 3:57,197,838...57,227,606 		JBrowse link
G H HID1 HID1 domain containing IAGP HPO OMIM:619983 NCBI chr17:74,950,742...74,972,759
Ensembl chr17:74,950,742...74,973,166 		JBrowse link
G H LEP leptin IAGP HPO ORPHA:66628 NCBI chr 7:128,241,278...128,257,629
Ensembl chr 7:128,241,278...128,257,629 		JBrowse link
G H LEPR leptin receptor IAGP HPO OMIM:614963 ORPHA:179494 NCBI chr 1:65,420,652...65,641,559
Ensembl chr 1:65,420,652...65,641,559 		JBrowse link
G H LHX3 LIM homeobox 3 IAGP HPO ORPHA:226307 ORPHA:231720 NCBI chr 9:136,196,250...136,205,128
Ensembl chr 9:136,196,250...136,205,128 		JBrowse link
G H LHX4 LIM homeobox 4 IAGP HPO ORPHA:226307 ORPHA:95494 NCBI chr 1:180,228,375...180,278,984
Ensembl chr 1:180,230,264...180,278,984 		JBrowse link
G H MEN1 menin 1 IAGP HPO ORPHA:2965 NCBI chr11:64,803,516...64,811,294
Ensembl chr11:64,803,510...64,811,294 		JBrowse link
G H NF2 NF2, moesin-ezrin-radixin like (MERLIN) tumor suppressor IAGP HPO ORPHA:2495 NCBI chr22:29,603,556...29,698,600
Ensembl chr22:29,603,556...29,698,598 		JBrowse link
G H OTX2 orthodenticle homeobox 2 IAGP HPO ORPHA:95494 NCBI chr14:56,799,905...56,810,479
Ensembl chr14:56,799,905...56,816,693 		JBrowse link
G H PCSK1 proprotein convertase subtilisin/kexin type 1 IAGP HPO ORPHA:71528 NCBI chr 5:96,390,333...96,433,248
Ensembl chr 5:96,390,333...96,434,143 		JBrowse link
G H PDGFB platelet derived growth factor subunit B IAGP HPO ORPHA:2495 NCBI chr22:39,223,359...39,244,982
Ensembl chr22:39,223,359...39,244,982 		JBrowse link
G H PIK3CA phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha IAGP HPO ORPHA:2495 NCBI chr 3:179,148,126...179,240,093
Ensembl chr 3:179,148,114...179,240,093 		JBrowse link
G H POMC proopiomelanocortin IAGP HPO ORPHA:71526 NCBI chr 2:25,160,860...25,168,580
Ensembl chr 2:25,160,853...25,168,903 		JBrowse link
G H POU1F1 POU class 1 homeobox 1 IAGP HPO ORPHA:226307 ORPHA:95494 NCBI chr 3:87,259,404...87,276,584
Ensembl chr 3:87,259,404...87,276,584 		JBrowse link
G H POU3F4 POU class 3 homeobox 4 IAGP HPO ORPHA:1435 NCBI chr  X:83,508,290...83,512,127
Ensembl chr  X:83,508,290...83,512,127 		JBrowse link
G H PROP1 PROP paired-like homeobox 1 IAGP HPO ORPHA:226307 ORPHA:90695 ORPHA:95494 NCBI chr 5:177,992,235...177,996,242
Ensembl chr 5:177,992,235...177,996,242 		JBrowse link
G H RBM28 RNA binding motif protein 28 IAGP HPO ORPHA:157954 NCBI chr 7:128,297,685...128,343,908
Ensembl chr 7:128,297,685...128,343,908 		JBrowse link
G H SMARCB1 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily b, member 1 IAGP HPO ORPHA:2495 NCBI chr22:23,786,966...23,838,009
Ensembl chr22:23,786,931...23,838,009 		JBrowse link
G H SMARCE1 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily e, member 1 IAGP HPO ORPHA:2495 NCBI chr17:40,624,962...40,647,818
Ensembl chr17:40,624,962...40,648,654 		JBrowse link
G H SMO smoothened, frizzled class receptor IAGP HPO ORPHA:2495 NCBI chr 7:129,188,633...129,213,545
Ensembl chr 7:129,188,633...129,213,545 		JBrowse link
G H SOX3 SRY-box transcription factor 3 IAGP HPO ORPHA:90695 NCBI chr  X:140,502,985...140,505,069
Ensembl chr  X:140,502,985...140,505,069 		JBrowse link
G H SUFU SUFU negative regulator of hedgehog signaling IAGP HPO ORPHA:2495 NCBI chr10:102,502,819...102,633,535
Ensembl chr10:102,503,972...102,633,535 		JBrowse link
G H TERT telomerase reverse transcriptase IAGP HPO ORPHA:2495 NCBI chr 5:1,253,167...1,295,068
Ensembl chr 5:1,253,147...1,295,068 		JBrowse link
G H TMEM67 transmembrane protein 67 IAGP HPO OMIM:602152 NCBI chr 8:93,754,844...93,832,653
Ensembl chr 8:93,754,844...93,819,234 		JBrowse link
G H TRAF7 TNF receptor associated factor 7 IAGP HPO ORPHA:2495 NCBI chr16:2,155,782...2,178,129
Ensembl chr16:2,155,698...2,178,129 		JBrowse link
G H TRHR thyrotropin releasing hormone receptor IAGP HPO ORPHA:99832 NCBI chr 8:109,086,585...109,121,565
Ensembl chr 8:109,086,585...109,121,565 		JBrowse link
G H TSHB thyroid stimulating hormone subunit beta IAGP ClinVar Annotator: match by term: Secondary hypothyroidism
ClinVar Annotator: match by term: Pituitary hypothyroidism		 ClinVar
HPO		 PMID:8636437 PMID:9589689 PMID:12364478 PMID:15297803 PMID:22606512 More... ORPHA:90674 NCBI chr 1:115,029,826...115,034,309
Ensembl chr 1:115,029,826...115,034,302 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  Human phenotype 21568
    Phenotypic abnormality 21558
      Abnormality of the endocrine system 2652
        Abnormality of the thyroid gland 561
          Abnormality of thyroid physiology 430
            Hypothyroidism 404
              Central hypothyroidism 73
                Hypothalamic hypothyroidism 12
                Pituitary hypothyroidism 37
paths to the root