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Details
Link-It Detail - Disease - Dwarfism, Pituitary
Debug Stats
  • ### Total Build Time: 52 ms 43.879 KB
  • CONCEPT_NAME gt=12 ms Completed: 12 ms rowSize= 384 bytes
  • CONCEPT_SOLR_HIT_STATS gt=0 Completed: 0 ms rowSize= 14 bytes
  • CONCEPT_DEFINITION gt=0 Completed: 0 ms rowSize= 537 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= 188 bytes
  • Skipping details on: CONCEPT_NAMESPACE gt=NONE 0 Completed: 0 ms rowSize= 0 bytes
  • CONCEPT_PARENTS gt=3 ms Completed: 3 ms rowSize= 1.387 KB
  • CONCEPT_CHILDREN gt=0 Completed: 0 ms rowSize= 8 bytes
  • CONCEPT_ANCESTRAL_ROOTS gt=2 ms Completed: 2 ms rowSize= 9.173 KB
  • CONCEPT_RELATIONSHIPS gt=27 ms Completed: 27 ms rowSize= 14.554 KB
  • CONCEPT_GENES gt=8 ms Completed: 8 ms rowSize= 16.494 KB
  • CONCEPT_XREFS gt=0 Completed: 0 ms rowSize= 1.153 KB
  • CONCEPT_ANCILLARY gt=0 Completed: 0 ms rowSize= 14 bytes
  • Reload Stats
Disease (2)
Dwarfism, Pituitary C0013338
Pituitary dwarfism
Definition (1)
A form of dwarfism caused by complete or partial GROWTH HORMONE deficiency, resulting from either the lack of GROWTH HORMONE-RELEASING FACTOR from the HYPOTHALAMUS or from the mutations in the growth hormone gene (GH1) in the PITUITARY GLAND. It is also known as Type I pituitary dwarfism. Human hypophysial dwarf is caused by a deficiency of HUMAN GROWTH HORMONE during development.
Semantic Types (1)
Disease or Syndrome (T047)
Parents (3)
img Bone Diseases, Endocrine C0005942
img Hypopituitarism C0020635
img Dwarfism C0013336
Ancestral Roots
RootRoot Plus OneDepthParent
img Musculoskeletal Diseases C0026857img Bone Diseases C00059404img Bone Diseases, Endocrine C0005942
img Endocrine System Diseases C0014130img Bone Diseases, Endocrine C00059423img Bone Diseases, Endocrine C0005942
img Nervous System Diseases C0027765img Central Nervous System Diseases C00076827img Hypopituitarism C0020635
img Endocrine System Diseases C0014130img Pituitary Diseases C00320024img Hypopituitarism C0020635
img Endocrine System Diseases C0014130img Dwarfism C00133363img Dwarfism C0013336
img Congenital, Hereditary, and Neonatal Diseases and Abnormalities C0027612img Genetic Diseases, Inborn C09501234img Dwarfism C0013336
img Musculoskeletal Diseases C0026857img Bone Diseases C00059405img Dwarfism C0013336
Relationships (61)

Relation Types:
diso_​to_​anat : 3
diso_​to_​chem : 14
diso_​to_​diso : 39
diso_​to_​gene : 2
diso_​to_​phen : 2
diso_​to_​phys : 1


Relationships:
none : 15
associated_​with : 1
classifies : 1
expanded_​form_​of : 1
gene_​associated_​with_​disease : 2
isa : 2
location_​of : 1
mapped_​to : 30
may_​diagnose : 8
Page Size
Current 25
  Page 1 of 3
Prior Page
Current 1
Relation TypeCo-Occuring
Concept Count
RelationshipConcept
DISO_to_CHEM76img Human Growth Hormone C0169964
DISO_to_CHEM35img Human Growth Hormone C0169964
DISO_to_PHEN34img genetic aspects C0017399
DISO_to_PHEN32img genetic aspects C0017399
DISO_to_ANAT29img In Blood C0005768
DISO_to_CHEM29img Growth Hormone C0037663
DISO_to_CHEM27img Growth Hormone C0037663
DISO_to_DISO20img Complication Aspects C1171258
DISO_to_CHEM17img Insulin-Like Growth Factor I C0021665
DISO_to_ANAT14img In Blood C0005768
DISO_to_DISO13img Complication Aspects C1171258
DISO_to_DISO9img Disorder, Growth C0018273
DISO_to_DISO9img Hypopituitarism C0020635
DISO_to_CHEM8img BIOSYN PROTEINS C0034861
DISO_to_PHYS8img Body Height C0005890
DISO_to_ANATlocation_ofimg Pituitary Gland, Anterior C0032008
DISO_to_CHEMmay_diagnoseimg 29-L-Argininamide-30-de-L-glutamine-31-de-L-glutamine-32-deglycine-33-de-L-glutamic acid-34-de-L-serine-35-de-L-asparagine-36-de-L-glutamine-37-de-L-glutamic acid-38-de-L-arginine-39-deglycine-40-de-L-alanine-41-de-L-arginine-42-de-L-alanine-43-de-L-arginine-44-de-L-leucinamide Growth Hormone-releasing Factor, Acetate (salt), Hydrate C0162725
DISO_to_CHEMmay_diagnoseimg INSULIN PORK REGULAR 40 UNIT/ML INJ C0977829
DISO_to_CHEMmay_diagnoseimg Insulin, Regular, Pork C0724601
DISO_to_CHEMmay_diagnoseimg Insulin, Regular, Pork 100 UNT/ML Injectable Solution C0977828
DISO_to_CHEMmay_diagnoseimg SERMORELIN ACETATE 0.5 MG Injection (systemic) powder for solution C0980142
DISO_to_CHEMmay_diagnoseimg SERMORELIN ACETATE 1 MG Injection (systemic) powder for solution C0980143
DISO_to_CHEMmay_diagnoseimg SERMORELIN ACETATE 50 mcg INTRAVEN. AMPUL (EA) C1595249
DISO_to_CHEMmay_diagnoseimg Sermorelin C0142046
DISO_to_DISOisaimg Abnormal sella turcica syndrome C0271574
Genes (10)

Species:
human : 10
SpeciesGeneGeneIdGene NameEvidence
HumanCSMD3114788CUB and Sushi multiple domains 3
img GENERIF, Score=1000, Pubmed Id: 15523607, UMLKSK CUI: C0013338
HumanPREPL9581prolyl endopeptidase-like
img GENERIF, Score=1000, Pubmed Id: 16913837, UMLKSK CUI: C0013338
HumanSOX36658SRY (sex determining region Y)-box 3
img GENERIF, Score=1000, Pubmed Id: 12428212, UMLKSK CUI: C0013338
img OMIM, Score=1000, UMLKSK CUI: C0013338
HumanSRSF26427serine/arginine-rich splicing factor 2
img GENERIF, Score=1000, Pubmed Id: 18586677, UMLKSK CUI: C0013338
HumanSRSF16426serine/arginine-rich splicing factor 1
img GENERIF, Score=1000, Pubmed Id: 18586677, UMLKSK CUI: C0013338
HumanPROP15626PROP paired-like homeobox 1
img GENERIF, Score=845, Pubmed Id: 17526936, UMLKSK CUI: C0013338
HumanLEP3952leptin
img GENERIF, Score=1000, Pubmed Id: 12218376, UMLKSK CUI: C0013338
HumanIGF13479insulin-like growth factor 1 (somatomedin C)
img GENERIF, Score=1000, Pubmed Id: 18631396, UMLKSK CUI: C0013338
img GENERIF, Score=1000, Pubmed Id: 17991453, UMLKSK CUI: C0013338
img GENERIF, Score=1000, Pubmed Id: 17709895, UMLKSK CUI: C0013338
img GENERIF, Score=1000, Pubmed Id: 17033263, UMLKSK CUI: C0013338
HumanGHR2690growth hormone receptor
img GAD, Score=1000, Pubmed Id: 16394090, UMLKSK CUI: C0013338
img GENERIF, Score=1000, Pubmed Id: 16291702, UMLKSK CUI: C0013338
HumanGH12688growth hormone 1
img GENERIF, Score=1000, Pubmed Id: 12428212, UMLKSK CUI: C0013338
img GENERIF, Score=1000, Pubmed Id: 18787048, UMLKSK CUI: C0013338
img OMIM, Score=1000, UMLKSK CUI: C0013338
img GENERIF, Score=1000, Pubmed Id: 18631396, UMLKSK CUI: C0013338
XRefs (1)

XRef Types:
cui : 1


ToppGene Datasets:
none : 1
ToppGene DatasetsXRef TypeXRef IdXRefValuesSourceTop % Rank
CUIimg C0013338Dwarfism, Pituitary0self