Send us a Message
Submit Data |  Help |  Video Tutorials |  News |  Publications |  Download |  REST API |  Citing RGD |  Contact   
Search RGD Grant Resources Citing RGD About Us Contact Us
Genes Variants Community Projects QTLs Strains Markers Genome Information Ontologies Cell Lines References Download Submit Data
OntoMate (Literature Search) JBrowse (Genome Browser) Synteny Browser (VCMap) Variant Visualizer Multi-Ontology Enrichment (MOET) Gene-Ortholog Location Finder (GOLF) InterViewer (Protein-Protein Interactions) PhenoMiner (Quatitative Phenotypes) Gene Annotator OLGA (Gene List Generator) AllianceMine GViewer (Genome Viewer)
Aging & Age-Related Disease Cancer & Neoplastic Disease Cardiovascular Disease Coronavirus Disease Developmental Disease Diabetes Hematologic Disease Immune & Inflammatory Disease Infectious Disease Liver Disease Neurological Disease Obesity & Metabolic Syndrome Renal Disease Respiratory Disease Sensory Organ Disease
Find Models   new Genetic Models Autism Models Rat PhenoMiner (Quantitative Phenotypes) Chinchilla PhenoMiner Expected Ranges (Quantitative Phenotype) PhenoMiner Term Comparison Hybrid Rat Diversity Panel Phenotypes Phenotypes in Other Animal Models Animal Husbandry Strain Medical Records Phylogenetics Strain Availability Calendar Rats 101 Submissions Photo Archive
Pathways
Rat Community Forum Directory of Rat Laboratories Video Tutorials News RGD Publications RGD Presentations Archive Nomenclature Guidelines Resource Links Laboratory Resources Employment Resources

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:Elliptocytosis
go back to main search page
Accession:HP:0004445 term browser browse the term
Definition:The presence of elliptical, cigar-shaped erythrocytes on peripheral blood smear.
Comment:Elliptocytes (ovalocytes) are abnormal erythrocytes ranging from slightly oval to elongated cigar-shaped forms.
Synonyms:exact_synonym: Ovalocytes;   Ovalocytosis
 related_synonym: Elliptocyte;   Hereditary elliptocytosis
 alt_id: HP:0004837
 xref: MESH:D004612;   SNOMEDCT_US:178935009;   SNOMEDCT_US:191169008;   SNOMEDCT_US:250242004;   UMLS:C0013902;   UMLS:C0427480


show annotations for term's descendants           Sort by:
Elliptocytosis term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ACSL4 acyl-CoA synthetase long chain family member 4 IAGP HPO ORPHA:86818 NCBI chr  X:109,641,335...109,733,257
Ensembl chr  X:109,624,244...109,733,403 		JBrowse link
G AMMECR1 AMMECR nuclear protein 1 IAGP HPO OMIM:300990 ORPHA:86818 NCBI chr  X:110,194,186...110,440,233
Ensembl chr  X:110,194,186...110,440,318 		JBrowse link
G CA2 carbonic anhydrase 2 IAGP HPO ORPHA:2785 NCBI chr 8:85,464,007...85,481,493
Ensembl chr 8:85,463,968...85,481,493 		JBrowse link
G EPB41 erythrocyte membrane protein band 4.1 IAGP ClinVar Annotator: match by term: Hereditary elliptocytosis ClinVar
HPO		 OMIM:611804 ORPHA:288 NCBI chr 1:28,887,100...29,120,041
Ensembl chr 1:28,887,091...29,120,046 		JBrowse link
G GATA1 GATA binding protein 1 IAGP HPO OMIM:300835 NCBI chr  X:48,786,590...48,794,311
Ensembl chr  X:48,786,540...48,794,311 		JBrowse link
G GYPC glycophorin C (Gerbich blood group) IAGP HPO ORPHA:288 NCBI chr 2:126,656,158...126,696,667
Ensembl chr 2:126,656,133...126,696,667 		JBrowse link
G KCNE5 potassium voltage-gated channel subfamily E regulatory subunit 5 IAGP HPO ORPHA:86818 NCBI chr  X:109,623,700...109,625,172
Ensembl chr  X:109,623,700...109,625,172 		JBrowse link
G NHLRC2 NHL repeat containing 2 IAGP HPO OMIM:618278 NCBI chr10:113,854,661...113,917,194
Ensembl chr10:113,854,661...113,917,194 		JBrowse link
G OR10Z1 olfactory receptor family 10 subfamily Z member 1 IAGP ClinVar Annotator: match by term: Ovalocytosis ClinVar NCBI chr 1:158,605,268...158,612,514
Ensembl chr 1:158,605,268...158,612,514 		JBrowse link
G SLC4A1 solute carrier family 4 member 1 (Diego blood group) IAGP HPO
RGD		 PMID:22919024 OMIM:166900, RGD:10450480 NCBI chr17:44,248,390...44,268,135
Ensembl chr17:44,248,390...44,268,141 		JBrowse link
G SPTA1 spectrin alpha, erythrocytic 1 IAGP ClinVar Annotator: match by term: Ovalocytosis
ClinVar Annotator: match by term: Elliptocytosis		 ClinVar
HPO		 PMID:25741868 PMID:28492532 OMIM:130600 OMIM:266140 ORPHA:288 NCBI chr 1:158,610,704...158,686,715
Ensembl chr 1:158,610,704...158,686,715 		JBrowse link
G SPTB spectrin beta, erythrocytic IAGP ClinVar Annotator: match by term: Ovalocytosis
ClinVar Annotator: match by term: Elliptocytosis		 ClinVar
HPO		 PMID:19538529 PMID:25741868 PMID:28492532 PMID:29396846 PMID:34201899 OMIM:617948 ORPHA:288 NCBI chr14:64,746,283...64,879,907
Ensembl chr14:64,746,283...64,879,907 		JBrowse link
G TRNT1 tRNA nucleotidyl transferase 1 IAGP HPO OMIM:616959 NCBI chr 3:3,126,940...3,153,435
Ensembl chr 3:3,126,933...3,153,435 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  Human phenotype 21564
    Phenotypic abnormality 21554
      Abnormality of blood and blood-forming tissues 2647
        Abnormal erythrocyte morphology 988
          Poikilocytosis 68
            Elliptocytosis 13
              Atypical elliptocytosis 0
paths to the root