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Details
Link-It Detail - Human Phenotype - Abnormality of circulating hormone level
Debug Stats
  • ### Total Build Time: 54 ms 35.764 KB
  • CONCEPT_NAME gt=4 ms Completed: 4 ms rowSize= 215 bytes
  • CONCEPT_SOLR_HIT_STATS gt=0 Completed: 0 ms rowSize= 14 bytes
  • Skipping details on: CONCEPT_DEFINITION gt=NONE 0 Completed: 0 ms rowSize= 0 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= 796 bytes
  • CONCEPT_CHILDREN gt=24 ms Completed: 24 ms rowSize= 8.150 KB
  • CONCEPT_ANCESTRAL_ROOTS gt=0 Completed: 0 ms rowSize= 2.109 KB
  • CONCEPT_RELATIONSHIPS gt=0 Completed: 0 ms rowSize= 106 bytes
  • CONCEPT_GENES gt=25 ms Completed: 25 ms rowSize= 23.338 KB
  • CONCEPT_XREFS gt=1 ms Completed: 1 ms rowSize= 1.034 KB
  • CONCEPT_ANCILLARY gt=0 Completed: 0 ms rowSize= 14 bytes
  • Reload Stats
Human Phenotype (1)
Abnormality of circulating hormone level HP:0003117
Parents (2)
img Abnormality of the endocrine system HP:0000818
img Abnormality of metabolism/homeostasis HP:0001939
Children (24)
img Abnormality of thyroid physiology HP:0002926
img Fasting hypoglycemia HP:0003162
img Elevated circulating parathyroid hormone (PTH) level HP:0003165
img Elevated circulating catecholamine level HP:0003334
img Increased circulating cortisol level HP:0003118
img Abnormality of the renin-aldosterone axis HP:0003350
img Increased serum 1,25-dihydroxyvitamin D3 HP:0003152
img Low gonadotropins (secondary hypogonadism) HP:0003335
img High urinary gonadotropins (primary hypogonadism) HP:0003492
img Impaired FSH and LH secretion HP:0003295
img Decreased circulating cortisol level HP:0008163
img Hypothalamic gonadotropin-releasing hormone (GNRH) deficiency HP:0003164
img Abnormality of circulating adrenocorticotropin level HP:0011043
img Abnormality of circulating glucocorticoid level HP:0012111
img Growth hormone deficiency HP:0000824
img Hyperinsulinemia HP:0000842
img Paradoxical increased cortisol secretion on dexamethasone suppression test HP:0003466
img Abnormality of circulating catecholamine level HP:0012099
img Hyperprostaglandinuria HP:0003527
img Low urinary cyclic AMP response to PTH administration HP:0003456
img Increased circulating ACTH level HP:0003154
img Decreased circulating ACTH level HP:0002920
img Increased serum serotonin HP:0003144
img Abnormality of circulating leptin level HP:0004361
Ancestral Roots
RootRoot Plus OneDepthParent
img All HP:0000001img Phenotypic abnormality HP:00001184img Abnormality of the endocrine system HP:0000818
img All HP:0000001img Phenotypic abnormality HP:00001184img Abnormality of metabolism/homeostasis HP:0001939
Genes (221)

Species:
human : 221
Page Size
Current 25
  Page 1 of 9
Prior Page
Current 1
SpeciesGeneGeneIdGene NameEvidence
HumanMYMY4100653379Moyamoya disease 4
img HP RolledUp, OMIM ID: 300845
HumanDEL15Q24100502567Chromosome 15q24 deletion syndrome
img HP RolledUp, OMIM ID: 613406
HumanDEL2P21100415942Hypotonia-cystinuria syndrome
img HP RolledUp, OMIM ID: 606407
HumanDEL18P100240747Chromosome 18p deletion syndrome
img HP RolledUp, OMIM ID: 146390
HumanDEL1P36100240737Chromosome 1p36 deletion syndrome
img HP RolledUp, OMIM ID: 607872
HumanDEL11P15P14100240736Chromosome 11p15-p14 deletion syndrome
img HP RolledUp, OMIM ID: 606528
HumanDEL18Q100216483Chromosome 18q deletion syndrome
img HP RolledUp, OMIM ID: 601808
HumanHPRHP100188880Hypophosphatemic rickets and hyperparathyroidism
img HP RolledUp, OMIM ID: 612089
HumanAUTS1100188832Autism, susceptibility to, 1
img HP RolledUp, OMIM ID: 209850
HumanKCNJ18100134444potassium inwardly-rectifying channel, subfamily J, member 18
img HP RolledUp, OMIM ID: 613239
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
HumanDEL17Q21.31791085
img HP RolledUp, OMIM ID: 610443
HumanMPDMRS574047Martin-Probst deafness-mental retardation syndrome
img HP RolledUp, OMIM ID: 300519
HumanDUOXA2405753dual oxidase maturation factor 2
img HP RolledUp, OMIM ID: 274900
HumanIYD389434iodotyrosine deiodinase
img HP RolledUp, OMIM ID: 274800
HumanAUTS3387577Autism, susceptibility to, 3
img HP RolledUp, OMIM ID: 608049
HumanLCRB387281locus control region, beta
img HP RolledUp, OMIM ID: 613985
HumanSNORD115-1338433
img HP RolledUp, OMIM ID: 176270
HumanPTRF284119polymerase I and transcript release factor
img HP RolledUp, OMIM ID: 613327
HumanKANSL1284058KAT8 regulatory NSL complex subunit 1
img HP RolledUp, OMIM ID: 610443
HumanH19283120H19, imprinted maternally expressed transcript (non-protein coding)
img HP RolledUp, OMIM ID: 130650
img HP RolledUp, OMIM ID: 180860
HumanRAB40AL282808RAB40A, member RAS oncogene family-like
img HP RolledUp, OMIM ID: 300519
HumanGCCD2282631Glucocorticoid deficiency 2
img HP RolledUp, OMIM ID: 607398
XRefs (1)

XRef Types:
hp : 1


ToppGene Datasets:
none : 1
ToppGene DatasetsXRef TypeXRef IdXRefValuesSourceTop % Rank
HPimg HP:0003117Abnormality of circulating hormone level0self