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Pathways

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:Temporal pattern
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Accession:HP:0011008 term browser browse the term
Definition:The speed at which disease manifestations appear and develop.
Synonyms:exact_synonym: Speed of onset
 xref: UMLS:C4021204



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Episodic term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G PTH parathyroid hormone IAGP HPO PMID:2212001 MIM:146200 NCBI chr11:13,492,054...13,496,181
Ensembl chr11:13,492,054...13,496,181
JBrowse link
Insidious onset term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ADH1C alcohol dehydrogenase 1C (class I), gamma polypeptide IAGP HPO MIM:168600 NCBI chr 4:99,336,497...99,352,746
Ensembl chr 4:99,336,093...99,353,887
JBrowse link
G ATL1 atlastin GTPase 1 IAGP HPO MIM:182600 NCBI chr14:50,533,082...50,633,068
Ensembl chr14:50,532,509...50,634,017
JBrowse link
G ATXN2 ataxin 2 IAGP HPO MIM:168600 NCBI chr12:111,452,214...111,599,673
Ensembl chr12:111,443,485...111,599,676
JBrowse link
G ATXN3 ataxin 3 IAGP HPO MIM:168600 NCBI chr14:92,044,775...92,106,582
Ensembl chr14:92,044,496...92,106,622
JBrowse link
G ATXN8OS ATXN8 opposite strand lncRNA IAGP HPO MIM:168600 NCBI chr13:70,107,421...70,171,738
Ensembl chr13:70,107,213...70,171,738
JBrowse link
G CACNA1A calcium voltage-gated channel subunit alpha1 A IAGP HPO PMID:9345107 MIM:183086 NCBI chr19:13,206,442...13,506,479
Ensembl chr19:13,206,442...13,624,489
JBrowse link
G EIF4G1 eukaryotic translation initiation factor 4 gamma 1 IAGP HPO PMID:21907011 MIM:614251 NCBI chr 3:184,314,606...184,335,358
Ensembl chr 3:184,314,490...184,335,358
JBrowse link
G GBA1 glucosylceramidase beta 1 IAGP HPO MIM:168600 NCBI chr 1:155,234,452...155,244,627
Ensembl chr 1:155,234,447...155,245,178
JBrowse link
G MAPT microtubule associated protein tau IAGP HPO MIM:168600 NCBI chr17:45,894,554...46,028,334
Ensembl chr17:45,894,358...46,028,334
JBrowse link
G MPZ myelin protein zero IAGP HPO MIM:118200 NCBI chr 1:161,303,600...161,309,968
Ensembl chr 1:161,304,735...161,309,968
JBrowse link
G MT-TT mitochondrially encoded tRNA-Thr (ACN) IAGP HPO MIM:168600 NCBI chr MT:15,888...15,953
Ensembl chr MT:15,888...15,953
JBrowse link
G NIPA1 NIPA magnesium transporter 1 IAGP HPO MIM:600363 NCBI chr15:22,786,225...22,829,789
Ensembl chr15:22,773,063...22,829,789
JBrowse link
G NR4A2 nuclear receptor subfamily 4 group A member 2 IAGP HPO MIM:168600 NCBI chr 2:156,324,437...156,332,721
Ensembl chr 2:156,324,432...156,342,348
JBrowse link
G OPA1 OPA1 mitochondrial dynamin like GTPase IAGP HPO MIM:165500 NCBI chr 3:193,593,208...193,697,811
Ensembl chr 3:193,593,144...193,697,811
JBrowse link
G PMP22 peripheral myelin protein 22 IAGP HPO MIM:118220 NCBI chr17:15,229,779...15,265,326
Ensembl chr17:15,229,773...15,272,292
JBrowse link
G SNCA synuclein alpha IAGP HPO MIM:168601 NCBI chr 4:89,724,099...89,838,304
Ensembl chr 4:89,700,345...89,838,315
JBrowse link
G SNCAIP synuclein alpha interacting protein IAGP HPO MIM:168600 NCBI chr 5:122,311,353...122,464,219
Ensembl chr 5:122,311,354...122,464,224
JBrowse link
G SPAST spastin IAGP HPO MIM:182601 NCBI chr 2:32,063,556...32,157,637
Ensembl chr 2:32,063,530...32,157,637
JBrowse link
G TBP TATA-box binding protein IAGP HPO MIM:168600 NCBI chr 6:170,554,369...170,572,859
Ensembl chr 6:170,554,302...170,572,870
JBrowse link
G WASHC5 WASH complex subunit 5 IAGP HPO PMID:23455931 MIM:603563 NCBI chr 8:125,024,260...125,091,792
Ensembl chr 8:125,024,260...125,091,819
JBrowse link
Recurrent term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G BCKDHA branched chain keto acid dehydrogenase E1 subunit alpha IAGP HPO MIM:248600 NCBI chr19:41,397,818...41,425,002
Ensembl chr19:41,397,793...41,425,005
JBrowse link
Seizure cluster term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ADORA2A adenosine A2a receptor IAGP HPO ORPHA:363549 NCBI chr22:24,423,597...24,442,357
Ensembl chr22:24,417,879...24,443,177
JBrowse link
G SMC1A structural maintenance of chromosomes 1A IAGP HPO PMID:28166369 MIM:301044 NCBI chr  X:53,374,149...53,422,728
Ensembl chr  X:53,374,149...53,422,728
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  Human phenotype 94017
    Clinical modifier 3967
      Clinical course 3923
        Temporal pattern 24
          Acute + 0
          Chronic 0
          Diurnal 0
          Fluctuating 0
          Insidious onset 20
          Migratory 0
          Nocturnal 0
          Prolonged 0
          Proximal to distal progression 0
          Recurrent + 4
          Stable 0
          Subacute 0
          Transient 0
paths to the root