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Details
Link-It Detail - Human Phenotype - Abnormality of the hypothalamus-pituitary axis
Debug Stats
  • ### Total Build Time: 28 ms 29.437 KB
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Human Phenotype (1)
Abnormality of the hypothalamus-pituitary axis HP:0000864
Definition (1)
Abnormality of the pituitary gland (also known as hypophysis), which is an endocrine gland that protrudes from the bottom of the hypothalamus at the base of the brain. The pituitary gland secretes the hormones ACTH, TSH, PRL, GH, endorphins, FSH, LH, oxytocin, and antidiuretic hormone. The secretion of hormones from the anterior pituitary is under the strict control of hypothalamic hormones, and the posterior pituitary is essentially an extension of the hypothalamus, so that hypothalamus and pituitary gland may be regarded as a functional unit.
Parents (1)
img Abnormality of the endocrine system HP:0000818
Children (8)
img Anterior pituitary hypoplasia HP:0008238
img Gonadotropin deficiency HP:0008213
img Abnormality of the posterior pituitary HP:0011751
img Pituitary resistance to thyroid hormone HP:0008227
img Central diabetes insipidus HP:0000863
img Growth hormone and pituitary abnormality HP:0000844
img Abnormality of the anterior pituitary HP:0011747
img Abnormal hypothalamus physiology HP:0012285
Ancestral Roots
RootRoot Plus OneDepthParent
img All HP:0000001img Phenotypic abnormality HP:00001184img Abnormality of the endocrine system HP:0000818
Genes (116)

Species:
human : 116
Page Size
Current 25
  Page 1 of 5
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Current 1
SpeciesGeneGeneIdGene NameEvidence
HumanDUPXQ27.3Q28100874533
img HP RolledUp, OMIM ID: 300869
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
HumanDEL18Q100216483Chromosome 18q deletion syndrome
img HP RolledUp, OMIM ID: 601808
HumanSNORD116-1100033413
img HP RolledUp, OMIM ID: 176270
HumanPWRN1791114Prader-Willi region non-protein coding RNA 1
img HP RolledUp, OMIM ID: 176270
HumanWG474168Wegener granulomatosis
img HP TAS, OMIM ID: 608710
HumanLCRB387281locus control region, beta
img HP RolledUp, OMIM ID: 613985
HumanSNORD115-1338433
img HP RolledUp, OMIM ID: 176270
HumanH19283120H19, imprinted maternally expressed transcript (non-protein coding)
img HP RolledUp, OMIM ID: 180860
HumanVPS13B157680vacuolar protein sorting 13 homolog B (yeast)
img HP RolledUp, OMIM ID: 216550
HumanLIPI149998lipase, member I
img HP RolledUp, OMIM ID: 145750
HumanPWAR1145624Prader Willi/Angelman region RNA 1
img HP RolledUp, OMIM ID: 176270
HumanB3GALTL145173beta 1,3-galactosyltransferase-like
img HP RolledUp, OMIM ID: 261540
HumanRSS140821Russell Silver syndrome
img HP RolledUp, OMIM ID: 180860
HumanAPOA5116519apolipoprotein A-V
img HP RolledUp, OMIM ID: 145750
HumanTMEM6791147transmembrane protein 67
img HP TAS, OMIM ID: 216360
HumanLHX489884LIM homeobox 4
img HP RolledUp, OMIM ID: 262700
HumanDCAF1780067DDB1 and CUL4 associated factor 17
img HP RolledUp, OMIM ID: 241080
HumanSECISBP279048SECIS binding protein 2
img HP RolledUp, OMIM ID: 609698
HumanCC2D2A57545coiled-coil and C2 domain containing 2A
img HP TAS, OMIM ID: 216360
HumanHTGS56797Hypertriglyceridemia, familial
img HP RolledUp, OMIM ID: 145750
HumanCHD755636chromodomain helicase DNA binding protein 7
img HP RolledUp, OMIM ID: 214800
HumanSLC29A355315solute carrier family 29 (equilibrative nucleoside transporter), member 3
img HP RolledUp, OMIM ID: 612391
img HP RolledUp, OMIM ID: 602782
XRefs (1)

XRef Types:
hp : 1


ToppGene Datasets:
none : 1
ToppGene DatasetsXRef TypeXRef IdXRefValuesSourceTop % Rank
HPimg HP:0000864Abnormality of the hypothalamus-pituitary axis0self