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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:Long neck
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Accession:HP:0000472 term browser browse the term
Definition:Increased inferior-superior length of the neck.
Synonyms:exact_synonym: Cervical elongation;   Elongated neck;   Increased cervical length;   Increased length of neck
 xref: UMLS:C1839816


show annotations for term's descendants           Sort by:
Long neck term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ATP7A ATPase copper transporting alpha IAGP HPO MIM:304150 NCBI chr  X:77,910,693...78,050,395
Ensembl chr  X:77,910,690...78,050,395 		JBrowse link
G EBP EBP cholestenol delta-isomerase IAGP HPO PMID:12503101 MIM:300960 ORPHA:401973 NCBI chr  X:48,521,808...48,528,716
Ensembl chr  X:48,521,799...48,528,716 		JBrowse link
G EYA1 EYA transcriptional coactivator and phosphatase 1 IAGP HPO MIM:166780 NCBI chr 8:71,197,433...71,548,094
Ensembl chr 8:71,197,433...71,592,025 		JBrowse link
G FLNA filamin A IAGP HPO MIM:309350 NCBI chr  X:154,348,531...154,374,634
Ensembl chr  X:154,348,524...154,374,634 		JBrowse link
G GABRA3 gamma-aminobutyric acid type A receptor subunit alpha3 IAGP HPO PMID:29053855 MIM:301091 NCBI chr  X:152,166,234...152,451,315
Ensembl chr  X:152,166,234...152,451,315 		JBrowse link
G HERC1 HECT and RLD domain containing E3 ubiquitin protein ligase family member 1 IAGP HPO PMID:26138117 MIM:617011 ORPHA:457359 NCBI chr15:63,608,618...63,833,948
Ensembl chr15:63,608,618...63,833,948 		JBrowse link
G POLR3A RNA polymerase III subunit A IAGP HPO PMID:21671373 MIM:264090 NCBI chr10:77,975,149...78,029,515
Ensembl chr10:77,953,148...78,029,522 		JBrowse link
G RNU4-2 RNA, U4 small nuclear 2 IAGP HPO PMID:38991538 MIM:620851 NCBI chr12:120,291,759...120,291,903
Ensembl chr12:120,291,763...120,291,903 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  Human phenotype 98827
    Phenotypic abnormality 98430
      Abnormality of head or neck 5998
        Abnormality of the neck 744
          Abnormal neck morphology 690
            Long neck 8
paths to the root