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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:Conspicuously happy disposition
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Accession:HP:0100024 term browser browse the term
Definition:An unusually happy demeanor over time, which can also be observed during inappropriate situations that should, for example, cause distress, fear, or anger.
Synonyms:exact_synonym: Conspicious happy aspect;   Happy aspect
 xref: UMLS:C4021029


show annotations for term's descendants           Sort by:
Conspicuously happy disposition term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CTNNB1 catenin beta 1 IAGP ClinVar Annotator: match by term: Conspicuously happy disposition ClinVar PMID:23033978 PMID:24614104 PMID:25326669 PMID:26350204 PMID:28492532 More... NCBI chr 3:41,199,505...41,240,443
Ensembl chr 3:41,194,741...41,260,096 		JBrowse link
G HNRNPH2 heterogeneous nuclear ribonucleoprotein H2 IAGP HPO OMIM:300986 NCBI chr  X:101,408,222...101,414,133
Ensembl chr  X:101,408,222...101,414,133 		JBrowse link
G KANSL1 KAT8 regulatory NSL complex subunit 1 IAGP HPO OMIM:610443 NCBI chr17:46,029,916...46,225,367
Ensembl chr17:46,029,916...46,225,389 		JBrowse link
G LOC126806658 BRD4-independent group 4 enhancer GRCh37_chr3:41265899-41267098 IAGP ClinVar Annotator: match by term: Conspicuously happy disposition ClinVar PMID:23033978 PMID:24614104 PMID:25326669 PMID:26350204 PMID:28492532 More... NCBI chr 3:41,224,408...41,225,607 JBrowse link
G NALCN sodium leak channel, non-selective IAGP HPO ORPHA:371364 NCBI chr13:101,053,776...101,417,179
Ensembl chr13:101,053,776...101,416,508 		JBrowse link
G SATB2 SATB homeobox 2 IAGP HPO ORPHA:251019 NCBI chr 2:199,269,500...199,471,266
Ensembl chr 2:199,269,505...199,471,266 		JBrowse link
G SIN3A SIN3 transcription regulator family member A IAGP HPO OMIM:613406 NCBI chr15:75,369,379...75,455,815
Ensembl chr15:75,369,379...75,455,842 		JBrowse link
G SLC9A6 solute carrier family 9 member A6 IAGP HPO ORPHA:85278 NCBI chr  X:135,973,837...136,047,269
Ensembl chr  X:135,973,841...136,047,269 		JBrowse link
G UNC80 unc-80 homolog, NALCN channel complex subunit IAGP HPO ORPHA:371364 NCBI chr 2:209,771,832...209,999,296
Ensembl chr 2:209,771,832...209,999,300 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  Human phenotype 21564
    Phenotypic abnormality 21554
      Abnormality of the nervous system 15603
        Abnormal nervous system physiology 14496
          Abnormality of mental function 13128
            Atypical behavior 7662
              Abnormal affect 46
                Happy demeanor 28
                  Conspicuously happy disposition 9
paths to the root