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Details
Link-It Detail - Human Phenotype - Abnormality of the parathyroid gland
Debug Stats
  • ### Total Build Time: 26 ms 29.089 KB
  • CONCEPT_NAME gt=4 ms Completed: 4 ms rowSize= 211 bytes
  • CONCEPT_SOLR_HIT_STATS gt=0 Completed: 0 ms rowSize= 14 bytes
  • CONCEPT_DEFINITION gt=0 Completed: 0 ms rowSize= 208 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= 456 bytes
  • CONCEPT_CHILDREN gt=3 ms Completed: 3 ms rowSize= 2.690 KB
  • CONCEPT_ANCESTRAL_ROOTS gt=0 Completed: 0 ms rowSize= 1.171 KB
  • CONCEPT_RELATIONSHIPS gt=0 Completed: 0 ms rowSize= 106 bytes
  • CONCEPT_GENES gt=16 ms Completed: 16 ms rowSize= 23.198 KB
  • CONCEPT_XREFS gt=3 ms Completed: 3 ms rowSize= 1.030 KB
  • CONCEPT_ANCILLARY gt=0 Completed: 0 ms rowSize= 14 bytes
  • Reload Stats
Human Phenotype (1)
Abnormality of the parathyroid gland HP:0000828
Definition (1)
An abnormality of the `parathyroid gland` (FMA:13890).
Parents (1)
img Abnormality of the endocrine system HP:0000818
Children (8)
img Pseudohypoparathyroidism HP:0000852
img Abnormality of the parathyroid physiology HP:0011767
img Abnormality of the parathyroid morphology HP:0011766
img Hypoparathyroidism HP:0000829
img Parathyroid hypoplasia HP:0000860
img Parathyroid hyperplasia HP:0008208
img Parathyroid agenesis HP:0008211
img Hyperparathyroidism HP:0000843
Ancestral Roots
RootRoot Plus OneDepthParent
img All HP:0000001img Phenotypic abnormality HP:00001184img Abnormality of the endocrine system HP:0000818
Genes (59)

Species:
human : 59
Page Size
Current 25
  Page 1 of 3
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Current 1
SpeciesGeneGeneIdGene NameEvidence
HumanHPRHP100188880Hypophosphatemic rickets and hyperparathyroidism
img HP RolledUp, OMIM ID: 612089
HumanLCRB387281locus control region, beta
img HP RolledUp, OMIM ID: 613985
HumanFLCN201163folliculin
img HP RolledUp, OMIM ID: 135150
HumanGNAS-AS1149775
img HP RolledUp, OMIM ID: 603233
HumanCDC7379577cell division cycle 73
img HP RolledUp, OMIM ID: 145000
img HP RolledUp, OMIM ID: 608266
img HP RolledUp, OMIM ID: 145001
HumanFAM111A63901family with sequence similarity 111, member A
img HP RolledUp, OMIM ID: 127000
HumanCHD755636chromodomain helicase DNA binding protein 7
img HP RolledUp, OMIM ID: 214800
HumanIRX510265iroquois homeobox 5
img HP RolledUp, OMIM ID: 611174
HumanSEMA3E9723sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3E
img HP RolledUp, OMIM ID: 214800
HumanGCM29247glial cells missing homolog 2 (Drosophila)
img HP RolledUp, OMIM ID: 146200
HumanHHC39151hypocalciuric hypercalcemia 3 (Oklahoma type)
img HP RolledUp, OMIM ID: 600740
HumanSTX168675syntaxin 16
img HP RolledUp, OMIM ID: 603233
HumanVDR7421vitamin D (1,25- dihydroxyvitamin D3) receptor
img HP RolledUp, OMIM ID: 277440
HumanTBCE6905tubulin folding cofactor E
img HP RolledUp, OMIM ID: 241410
img HP RolledUp, OMIM ID: 244460
HumanTBX16899T-box 1
img HP RolledUp, OMIM ID: 188400
HumanRET5979ret proto-oncogene
img HP RolledUp, OMIM ID: 162300
img HP RolledUp, OMIM ID: 171400
HumanPTH1R5745parathyroid hormone 1 receptor
img HP RolledUp, OMIM ID: 156400
HumanPTH5741parathyroid hormone
img HP RolledUp, OMIM ID: 146200
HumanPTEN5728phosphatase and tensin homolog
img HP TAS, OMIM ID: 158350
HumanSLC26A45172solute carrier family 26 (anion exchanger), member 4
img HP RolledUp, OMIM ID: 274600
HumanOCRL4952oculocerebrorenal syndrome of Lowe
img HP RolledUp, OMIM ID: 309000
HumanNF14763neurofibromin 1
HumanTRNW4578tRNA
img HP RolledUp, OMIM ID: 540000
HumanTRNV4577tRNA
img HP RolledUp, OMIM ID: 540000
HumanTRNS24575tRNA
img HP RolledUp, OMIM ID: 540000
XRefs (1)

XRef Types:
hp : 1


ToppGene Datasets:
none : 1
ToppGene DatasetsXRef TypeXRef IdXRefValuesSourceTop % Rank
HPimg HP:0000828Abnormality of the parathyroid gland0self