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Details
Link-It Detail - Disease - Puberty, Delayed
Debug Stats
  • ### Total Build Time: 233 ms 33.096 KB
  • CONCEPT_NAME gt=14 ms Completed: 14 ms rowSize= 330 bytes
  • CONCEPT_SOLR_HIT_STATS gt=0 Completed: 0 ms rowSize= 14 bytes
  • CONCEPT_DEFINITION gt=0 Completed: 0 ms rowSize= 561 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=1 ms Completed: 1 ms rowSize= 188 bytes
  • Skipping details on: CONCEPT_NAMESPACE gt=NONE 0 Completed: 0 ms rowSize= 0 bytes
  • CONCEPT_PARENTS gt=5 ms Completed: 5 ms rowSize= 553 bytes
  • CONCEPT_CHILDREN gt=0 Completed: 0 ms rowSize= 8 bytes
  • CONCEPT_ANCESTRAL_ROOTS gt=3 ms Completed: 3 ms rowSize= 1.507 KB
  • CONCEPT_RELATIONSHIPS gt=184 ms Completed: 184 ms rowSize= 13.423 KB
  • CONCEPT_GENES gt=21 ms Completed: 21 ms rowSize= 15.387 KB
  • CONCEPT_XREFS gt=4 ms Completed: 4 ms rowSize= 1.150 KB
  • CONCEPT_ANCILLARY gt=1 ms Completed: 1 ms rowSize= 14 bytes
  • Reload Stats
Disease (1)
Puberty, Delayed C0034012
Definition (1)
The lack of development of SEXUAL MATURATION in boys and girls at a chronological age that is 2.5 standard deviations above the mean age at onset of PUBERTY in a population. Delayed puberty can be classified by defects in the hypothalamic LHRH pulse generator, the PITUITARY GLAND, or the GONADS. These patients will undergo spontaneous but delayed puberty whereas patients with SEXUAL INFANTILISM will not.
Semantic Types (1)
Disease or Syndrome (T047)
Parents (1)
img Gonadal Disorders C0018050
Ancestral Roots
RootRoot Plus OneDepthParent
img Endocrine System Diseases C0014130img Gonadal Disorders C00180503img Gonadal Disorders C0018050
Relationships (83)

Relation Types:
diso_​to_​anat : 3
diso_​to_​chem : 59
diso_​to_​diso : 15
diso_​to_​phen : 2
diso_​to_​phys : 4


Relationships:
none : 22
associated_​with : 1
isa : 5
location_​of : 1
mapped_​to : 1
may_​treat : 53
Page Size
Current 25
  Page 1 of 4
Prior Page
Current 1
Relation TypeCo-Occuring
Concept Count
RelationshipConcept
DISO_to_ANAT21img In Blood C0005768
DISO_to_DISO18img Growth Disorders C0018273
DISO_to_DISO18img Puberty, Precocious C0034013
DISO_to_ANAT17img In Blood C0005768
DISO_to_PHEN17img genetic aspects C0017399
DISO_to_PHYS17img Puberty C0034011
DISO_to_DISO16img HYPOGONADISM C0020619
DISO_to_PHYS14img Body Height C0005890
DISO_to_PHEN13img genetic aspects C0017399
DISO_to_DISO12img Complication Aspects C1171258
DISO_to_PHYS12img Puberty C0034011
DISO_to_DISO11img HYPOGONADISM C0020619
DISO_to_DISO10img Precocious Puberty C0034013
DISO_to_CHEM9img Testosterone C0039601
DISO_to_DISO9img Complication Aspects C1171258
DISO_to_CHEM6img Androgens C0002844
DISO_to_CHEM6img Gonadorelin C0023610
DISO_to_CHEM6img Gonadotropin-Releasing Hormone C0023610
DISO_to_CHEM6img Gonadotropins C0018061
DISO_to_CHEM6img Human Growth Hormone C0169964
DISO_to_DISO6img Diabetes Mellitus, Type 1 C0011854
DISO_to_DISO6img beta-Thalassemia C0005283
DISO_to_ANATlocation_ofimg Entire endocrine gland C1305733
DISO_to_CHEMmay_treatimg (17Beta)-17-hydroxy-17-methylandrost-4-en-3-one C0025826
DISO_to_CHEMmay_treatimg (17beta)-17-(1-Oxopropoxy)androst-4-en-3-one C0039607
Genes (16)

Species:
human : 16
SpeciesGeneGeneIdGene NameEvidence
HumanVPS13B157680vacuolar protein sorting 13 homolog B (yeast)
img OMIM, Score=1000, UMLKSK CUI: C0034012
HumanPHF684295PHD finger protein 6
img OMIM, Score=1000, UMLKSK CUI: C0034012
HumanCUL4B8450cullin 4B
img OMIM, Score=1000, UMLKSK CUI: C0034012
HumanTGFB17040transforming growth factor, beta 1
img OMIM, Score=1000, UMLKSK CUI: C0034012
HumanTBX36926T-box 3
img OMIM, Score=1000, UMLKSK CUI: C0034012
HumanPTPN115781protein tyrosine phosphatase, non-receptor type 11
img OMIM, Score=1000, UMLKSK CUI: C0034012
HumanNPY4852neuropeptide Y
img GENERIF, Score=1000, Pubmed Id: 15625769, UMLKSK CUI: C0034012
HumanHLA-DQB13119
img OMIM, Score=1000, UMLKSK CUI: C0034012
img OMIM, Score=964, UMLKSK CUI: C0034012
HumanHLA-DQA13117
img OMIM, Score=1000, UMLKSK CUI: C0034012
img OMIM, Score=964, UMLKSK CUI: C0034012
HumanGLA2717galactosidase, alpha
img OMIM, Score=1000, UMLKSK CUI: C0034012
HumanSLC37A42542solute carrier family 37 (glucose-6-phosphate transporter), member 4
img OMIM, Score=1000, UMLKSK CUI: C0034012
HumanFGFR12260fibroblast growth factor receptor 1
img GENERIF, Score=840, Pubmed Id: 15613419, UMLKSK CUI: C0034012
HumanFGD12245FYVE, RhoGEF and PH domain containing 1
img OMIM, Score=1000, UMLKSK CUI: C0034012
HumanCTNS1497cystinosin, lysosomal cystine transporter
img OMIM, Score=1000, UMLKSK CUI: C0034012
HumanATM472ataxia telangiectasia mutated
img OMIM, Score=1000, UMLKSK CUI: C0034012
HumanNR0B1190nuclear receptor subfamily 0, group B, member 1
img OMIM, Score=1000, UMLKSK CUI: C0034012
XRefs (1)

XRef Types:
cui : 1


ToppGene Datasets:
none : 1
ToppGene DatasetsXRef TypeXRef IdXRefValuesSourceTop % Rank
CUIimg C0034012Puberty, Delayed0self