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Details
Link-It Detail - Human Phenotype - Abnormal cartilage morphology
Debug Stats
  • ### Total Build Time: 11 ms 16.646 KB
  • CONCEPT_NAME gt=0 Completed: 0 ms rowSize= 204 bytes
  • CONCEPT_SOLR_HIT_STATS gt=0 Completed: 0 ms rowSize= 14 bytes
  • CONCEPT_DEFINITION gt=0 Completed: 0 ms rowSize= 183 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=0 Completed: 0 ms rowSize= 14 bytes
  • Skipping details on: CONCEPT_NAMESPACE gt=NONE 0 Completed: 0 ms rowSize= 0 bytes
  • CONCEPT_PARENTS gt=0 Completed: 0 ms rowSize= 792 bytes
  • CONCEPT_CHILDREN gt=0 Completed: 0 ms rowSize= 2.358 KB
  • CONCEPT_ANCESTRAL_ROOTS gt=0 Completed: 0 ms rowSize= 2.105 KB
  • CONCEPT_RELATIONSHIPS gt=0 Completed: 0 ms rowSize= 106 bytes
  • CONCEPT_GENES gt=9 ms Completed: 9 ms rowSize= 9.862 KB
  • CONCEPT_XREFS gt=2 ms Completed: 2 ms rowSize= 1.023 KB
  • CONCEPT_ANCILLARY gt=0 Completed: 0 ms rowSize= 14 bytes
  • Reload Stats
Human Phenotype (1)
Abnormal cartilage morphology HP:0002763
Definition (1)
Any abnormality of cartilage.
Parents (2)
img Abnormality of skeletal morphology HP:0011842
img Abnormality of the skeletal system HP:0000924
Children (7)
img Multiple enchondromatosis HP:0005701
img Chondritis HP:0100662
img Cartilage destruction HP:0100773
img Abnormal cartilage collagen on EM HP:0008271
img Stippled chondral calcification HP:0002764
img Abnormal cartilage matrix HP:0008178
img Calcification of cartilage HP:0100593
Ancestral Roots
RootRoot Plus OneDepthParent
img All HP:0000001img Phenotypic abnormality HP:00001185img Abnormality of skeletal morphology HP:0011842
img All HP:0000001img Phenotypic abnormality HP:00001184img Abnormality of the skeletal system HP:0000924
Genes (11)

Species:
human : 11
SpeciesGeneGeneIdGene NameEvidence
HumanRMRP6023RNA component of mitochondrial RNA processing endoribonuclease
img HP RolledUp, OMIM ID: 250250
HumanPEX55830peroxisomal biogenesis factor 5
img HP RolledUp, OMIM ID: 214110
HumanPEX25828peroxisomal biogenesis factor 2
img HP RolledUp, OMIM ID: 170993
HumanABCD35825ATP-binding cassette, sub-family D (ALD), member 3
img HP RolledUp, OMIM ID: 170995
HumanPTPN115781protein tyrosine phosphatase, non-receptor type 11
img HP RolledUp, OMIM ID: 156250
HumanPTH1R5745parathyroid hormone 1 receptor
img HP RolledUp, OMIM ID: 166000
HumanDDR24921discoidin domain receptor tyrosine kinase 2
img HP RolledUp, OMIM ID: 271665
HumanMGP4256matrix Gla protein
img HP RolledUp, OMIM ID: 245150
HumanHGD3081homogentisate 1,2-dioxygenase
img HP RolledUp, OMIM ID: 203500
HumanSLC26A21836solute carrier family 26 (anion exchanger), member 2
img HP RolledUp, OMIM ID: 222600
HumanCOL2A11280collagen, type II, alpha 1
img HP RolledUp, OMIM ID: 150600
img HP RolledUp, OMIM ID: 609162
img HP RolledUp, OMIM ID: 156550
XRefs (1)

XRef Types:
hp : 1


ToppGene Datasets:
none : 1
ToppGene DatasetsXRef TypeXRef IdXRefValuesSourceTop % Rank
HPimg HP:0002763Abnormal cartilage morphology0self