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Details
Link-It Detail - Human Phenotype - Abnormality of cell physiology
Debug Stats
  • ### Total Build Time: 23 ms 29.030 KB
  • CONCEPT_NAME gt=1 ms Completed: 1 ms rowSize= 205 bytes
  • CONCEPT_SOLR_HIT_STATS gt=0 Completed: 0 ms rowSize= 14 bytes
  • CONCEPT_DEFINITION gt=0 Completed: 0 ms rowSize= 206 bytes
  • Skipping details on: CONCEPT_SYNONYM gt=NONE 0 Completed: 0 ms rowSize= 0 bytes
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  • CONCEPT_SEMANTIC_TYPE gt=1 ms Completed: 1 ms rowSize= 14 bytes
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  • CONCEPT_PARENTS gt=3 ms Completed: 3 ms rowSize= 458 bytes
  • CONCEPT_CHILDREN gt=2 ms Completed: 2 ms rowSize= 3.797 KB
  • CONCEPT_ANCESTRAL_ROOTS gt=0 Completed: 0 ms rowSize= 1.173 KB
  • CONCEPT_RELATIONSHIPS gt=1 ms Completed: 1 ms rowSize= 106 bytes
  • CONCEPT_GENES gt=15 ms Completed: 15 ms rowSize= 22.043 KB
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  • Reload Stats
Human Phenotype (1)
Abnormality of cell physiology HP:0011017
Definition (1)
An abnormality in a `cellular process` (GO:0009987).
Parents (1)
img Abnormality of metabolism/homeostasis HP:0001939
Children (11)
img Abnormality of lysosomal metabolism HP:0004356
img Abnormality of chromosome segregation HP:0002916
img Intracellular accumulation of autofluorescent lipopigment storage material HP:0003204
img Abnormality of chromosome stability HP:0003220
img Abnormality of mitochondrial metabolism HP:0003287
img Abnormality of chromosome condensation HP:0011019
img Increased sensitivity to ionizing radiation HP:0011133
img Abnormality of the cell cycle HP:0011018
img Increased cellular sensitivity to UV light HP:0003224
img Abnormality of DNA repair HP:0003254
img Abnormality of the mitochondrion HP:0012103
Ancestral Roots
RootRoot Plus OneDepthParent
img All HP:0000001img Phenotypic abnormality HP:00001184img Abnormality of metabolism/homeostasis HP:0001939
Genes (188)

Species:
human : 188
Page Size
Current 25
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Current 1
SpeciesGeneGeneIdGene NameEvidence
HumanDUP16P11.2100909384
img HP RolledUp, OMIM ID: 614671
HumanDUP17Q12100884129Chromosome 17q12 duplication syndrome
img HP RolledUp, OMIM ID: 614526
HumanDUPXQ27.3Q28100874533
img HP RolledUp, OMIM ID: 300869
HumanDEL17Q11.2100852404
img HP RolledUp, OMIM ID: 613675
HumanMLSM7100820631Myelodysplasia and leukemia syndrome with monosomy 7
img HP RolledUp, OMIM ID: 252270
HumanDEL13Q14100653382Chromosome 13q14 deletion syndrome
img HP RolledUp, OMIM ID: 613884
HumanDUP17Q21.31100529226
img HP RolledUp, OMIM ID: 613533
HumanDUP17Q23.1Q23.2100526743
img HP RolledUp, OMIM ID: 613618
HumanDEL2P21100415942Hypotonia-cystinuria syndrome
img HP RolledUp, OMIM ID: 606407
HumanDUPXQ28100415893Chromosome Xq28 duplication syndrome
img HP RolledUp, OMIM ID: 300815
HumanDUPXP11.23P11.22100310754
img HP RolledUp, OMIM ID: 300801
HumanDEL9P100240748Chromosome 9p deletion syndrome
img HP RolledUp, OMIM ID: 158170
HumanDEL18P100240747Chromosome 18p deletion syndrome
img HP RolledUp, OMIM ID: 146390
HumanDUP22Q11.2100240738
img HP RolledUp, OMIM ID: 608363
HumanDUP1Q21100217371Chromosome 1q21.1 duplication syndrome
img HP RolledUp, OMIM ID: 612475
HumanDUP3Q29100188862chromosome 3q29 microduplication syndrome
img HP RolledUp, OMIM ID: 611936
HumanSHFM3100049542Split-hand/foot malformation 3
img HP RolledUp, OMIM ID: 246560
HumanPTLS100038247Potocki-Lupski syndrome
img HP RolledUp, OMIM ID: 610883
HumanSNORD116-1100033413
img HP RolledUp, OMIM ID: 176270
HumanPWRN1791114Prader-Willi region non-protein coding RNA 1
img HP RolledUp, OMIM ID: 176270
HumanSDHAF1644096succinate dehydrogenase complex assembly factor 1
HumanCLN9497231ceroid-lipofuscinosis, neuronal 9
HumanGTF2H5404672general transcription factor IIH, polypeptide 5
img HP RolledUp, OMIM ID: 601675
HumanBOLA3388962bolA family member 3
img HP RolledUp, OMIM ID: 614299
HumanSNORD115-1338433
img HP RolledUp, OMIM ID: 176270
XRefs (1)

XRef Types:
hp : 1


ToppGene Datasets:
none : 1
ToppGene DatasetsXRef TypeXRef IdXRefValuesSourceTop % Rank
HPimg HP:0011017Abnormality of cell physiology0self