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Details
Link-It Detail - Human Phenotype - Abnormality of erythrocytes
Debug Stats
  • ### Total Build Time: 45 ms 34.854 KB
  • CONCEPT_NAME gt=1 ms Completed: 0 ms rowSize= 202 bytes
  • CONCEPT_SOLR_HIT_STATS gt=0 Completed: 0 ms rowSize= 14 bytes
  • CONCEPT_DEFINITION gt=0 Completed: 0 ms rowSize= 218 bytes
  • Skipping details on: CONCEPT_SYNONYM gt=NONE 0 Completed: 0 ms rowSize= 0 bytes
  • Skipping details on: CONCEPT_TEXT gt=NONE 0 Completed: 0 ms rowSize= 0 bytes
  • CONCEPT_SEMANTIC_TYPE gt=1 ms Completed: 1 ms rowSize= 14 bytes
  • Skipping details on: CONCEPT_NAMESPACE gt=NONE 0 Completed: 0 ms rowSize= 0 bytes
  • CONCEPT_PARENTS gt=2 ms Completed: 2 ms rowSize= 808 bytes
  • CONCEPT_CHILDREN gt=4 ms Completed: 4 ms rowSize= 5.543 KB
  • CONCEPT_ANCESTRAL_ROOTS gt=2 ms Completed: 2 ms rowSize= 2.121 KB
  • CONCEPT_RELATIONSHIPS gt=0 Completed: 0 ms rowSize= 106 bytes
  • CONCEPT_GENES gt=34 ms Completed: 34 ms rowSize= 24.824 KB
  • CONCEPT_XREFS gt=1 ms Completed: 1 ms rowSize= 1.021 KB
  • CONCEPT_ANCILLARY gt=0 Completed: 0 ms rowSize= 14 bytes
  • Reload Stats
Human Phenotype (1)
Abnormality of erythrocytes HP:0001877
Definition (1)
An abnormality of `erythrocytes` (CL:0000232) (red-blood cells).
Parents (2)
img Abnormality of blood and blood-forming tissues HP:0001871
img Abnormality of erythroid lineage cell HP:0010973
Children (17)
img Increased hemoglobin oxygen affinity HP:0004825
img Poikilocytosis HP:0004447
img Abnormal hemoglobin HP:0011902
img Increased red cell osmotic resistance HP:0005546
img Increased hematocrit HP:0001899
img Anemia HP:0001903
img Megaloblastic bone marrow HP:0001980
img Transient erythroblastopenia HP:0005510
img Anisocytosis HP:0011273
img Pancytopenia HP:0001876
img Increased hemoglobin HP:0001900
img Blood group antigen abnormality HP:0010970
img Abnormality of reticulocytes HP:0004312
img Increased red cell sickling tendency HP:0008346
img Polycythemia HP:0001901
img Erythrocyte macrocytosis HP:0005518
img Increased red cell osmotic fragility HP:0005502
Ancestral Roots
RootRoot Plus OneDepthParent
img All HP:0000001img Phenotypic abnormality HP:00001184img Abnormality of blood and blood-forming tissues HP:0001871
img All HP:0000001img Phenotypic abnormality HP:00001185img Abnormality of erythroid lineage cell HP:0010973
Genes (324)

Species:
human : 324
Page Size
Current 25
  Page 1 of 13
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Current 1
SpeciesGeneGeneIdGene NameEvidence
HumanMLSM7100820631Myelodysplasia and leukemia syndrome with monosomy 7
img HP RolledUp, OMIM ID: 252270
HumanAMMEC100499260Alport syndrome, mental retardation, midface hypoplasia, and elliptocytosis
img HP TAS, OMIM ID: 300194
HumanSLEB5100188798Systemic lupus erythematosus, susceptibility to, 5
img HP RolledUp, OMIM ID: 152700
HumanTEC100124696transient erythroblastopenia of childhood
img HP RolledUp, OMIM ID: 227050
HumanKTWS791122Klippel-Trenaunay-Weber syndrome
img HP RolledUp, OMIM ID: 149000
HumanMPDMRS574047Martin-Probst deafness-mental retardation syndrome
img HP RolledUp, OMIM ID: 300519
HumanCOA5493753cytochrome c oxidase assembly factor 5
img HP RolledUp, OMIM ID: 220110
HumanSLEB4404714systemic lupus erythematosus, susceptibility to, 4
img HP RolledUp, OMIM ID: 152700
HumanLCRB387281locus control region, beta
img HP RolledUp, OMIM ID: 613985
img HP RolledUp, OMIM ID: 604131
img HP RolledUp, OMIM ID: 141749
HumanMMAB326625methylmalonic aciduria (cobalamin deficiency) cblB type
img HP RolledUp, OMIM ID: 251110
HumanRAB40AL282808RAB40A, member RAS oncogene family-like
img HP RolledUp, OMIM ID: 300519
HumanNPHP4261734nephronophthisis 4
img HP RolledUp, OMIM ID: 606966
img HP RolledUp, OMIM ID: 606996
HumanUNC13D201294unc-13 homolog D (C. elegans)
img HP RolledUp, OMIM ID: 608898
HumanFLCN201163folliculin
img HP RolledUp, OMIM ID: 144700
HumanNLRP7199713NLR family, pyrin domain containing 7
img HP RolledUp, OMIM ID: 231090
HumanUBR1197131ubiquitin protein ligase E3 component n-recognin 1
img HP RolledUp, OMIM ID: 243800
HumanRLS192142Restless legs syndrome, susceptibility to
img HP RolledUp, OMIM ID: 102300
HumanSLEH1170682systemic lupus erythematosus with hemolytic anemia 1
img HP RolledUp, OMIM ID: 152700
HumanMMAA166785methylmalonic aciduria (cobalamin deficiency) cblA type
img HP RolledUp, OMIM ID: 251100
HumanTMPRSS6164656transmembrane protease, serine 6
img HP RolledUp, OMIM ID: 206200
HumanCDAN1146059codanin 1
img HP RolledUp, OMIM ID: 224120
HumanDNAJC19131118DnaJ (Hsp40) homolog, subfamily C, member 19
img HP RolledUp, OMIM ID: 610198
HumanCYP4F22126410cytochrome P450, family 4, subfamily F, polypeptide 22
img HP RolledUp, OMIM ID: 604777
HumanNLRP3114548NLR family, pyrin domain containing 3
img HP RolledUp, OMIM ID: 607115
img HP RolledUp, OMIM ID: 191900
HumanDBA2114086Diamond-Blackfan anemia 2
img HP RolledUp, OMIM ID: 105650
XRefs (1)

XRef Types:
hp : 1


ToppGene Datasets:
none : 1
ToppGene DatasetsXRef TypeXRef IdXRefValuesSourceTop % Rank
HPimg HP:0001877Abnormality of erythrocytes0self