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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:Acanthocytosis
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Accession:HP:0001927 term browser browse the term
Definition:Acanthocytosis is a type of poikilocytosis characterized by the presence of spikes on the cell surface. The cells have an irregular shape resembling many-pointed stars.
Synonyms:exact_synonym: Acanthocytes;   Red cell acanthocytosis
 alt_id: HP:0005552
 xref: SNOMEDCT_US:250249008;   UMLS:C0687751


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Acanthocytosis term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G APOB apolipoprotein B IAGP HPO OMIM:615558 NCBI chr 2:21,001,429...21,044,073
Ensembl chr 2:21,001,429...21,044,073 		JBrowse link
G CAD carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase IAGP HPO OMIM:616457 NCBI chr 2:27,217,369...27,243,943
Ensembl chr 2:27,217,369...27,243,943 		JBrowse link
G CYP4F22 cytochrome P450 family 4 subfamily F member 22 IAGP HPO OMIM:604777 NCBI chr19:15,508,525...15,552,317
Ensembl chr19:15,508,525...15,552,317 		JBrowse link
G GATA1 GATA binding protein 1 IAGP HPO OMIM:300367 NCBI chr  X:48,786,590...48,794,311
Ensembl chr  X:48,786,540...48,794,311 		JBrowse link
G KCNN4 potassium calcium-activated channel subfamily N member 4 IAGP HPO OMIM:616689 NCBI chr19:43,766,533...43,780,973
Ensembl chr19:43,766,533...43,780,976 		JBrowse link
G MTTP microsomal triglyceride transfer protein IAGP HPO OMIM:200100 ORPHA:14 NCBI chr 4:99,564,130...99,623,997
Ensembl chr 4:99,564,081...99,623,997 		JBrowse link
G PANK2 pantothenate kinase 2 IAGP HPO OMIM:234200 NCBI chr20:3,888,781...3,929,887
Ensembl chr20:3,888,839...3,929,887 		JBrowse link
G SAR1B secretion associated Ras related GTPase 1B IAGP HPO ORPHA:71 NCBI chr 5:134,601,149...134,632,828
Ensembl chr 5:134,601,149...134,649,271 		JBrowse link
G SLC4A1 solute carrier family 4 member 1 (Diego blood group) IAGP ClinVar Annotator: match by term: Acanthocytosis ClinVar
RGD		 PMID:1696010 PMID:2527366 PMID:8343110 PMID:25741868 PMID:28492532 More... RGD:10450481 NCBI chr17:44,248,390...44,268,135
Ensembl chr17:44,248,390...44,268,141 		JBrowse link
G SPTB spectrin beta, erythrocytic IAGP HPO OMIM:616649 NCBI chr14:64,746,283...64,879,907
Ensembl chr14:64,746,283...64,879,907 		JBrowse link
G TOR1A torsin family 1 member A IAGP HPO OMIM:618947 NCBI chr 9:129,812,942...129,824,136
Ensembl chr 9:129,812,942...129,824,244 		JBrowse link
G VPS13A vacuolar protein sorting 13 homolog A IAGP HPO OMIM:200150 ORPHA:2388 NCBI chr 9:77,177,534...77,421,537
Ensembl chr 9:77,177,445...77,421,537 		JBrowse link
G XK X-linked Kx blood group antigen, Kell and VPS13A binding protein IAGP HPO OMIM:300842 NCBI chr  X:37,685,791...37,732,130
Ensembl chr  X:37,685,791...37,732,130 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  Human phenotype 21570
    Phenotypic abnormality 21560
      Abnormality of blood and blood-forming tissues 2649
        Abnormal erythrocyte morphology 989
          Poikilocytosis 68
            Acanthocytosis 13
paths to the root