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Details
Link-It Detail - Disease - Pallister-Hall Syndrome
Debug Stats
  • ### Total Build Time: 41 ms 28.164 KB
  • CONCEPT_NAME gt=3 ms Completed: 3 ms rowSize= 344 bytes
  • CONCEPT_SOLR_HIT_STATS gt=0 Completed: 0 ms rowSize= 14 bytes
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  • Reload Stats
Disease (1)
Pallister-Hall Syndrome C0265220
Definition (1)
A very rare autosomal dominant inherited disorder caused by mutations in the GLI3 gene. It is characterized by a spectrum of abnormalities which include polydactyly, cutaneous syndactyly, bifid epiglottis, hypothalamic hamartoma, and laryngotracheal cleft.
Semantic Types (1)
Disease or Syndrome (T047)
Parents (4)
img Hamartoma C0018552
img Hypothalamic Neoplasms C0020659
img Polydactyly C0152427
img Abnormalities, Multiple C0000772
Ancestral Roots
RootRoot Plus OneDepthParent
img Neoplasms C0027651img Hamartoma C00185523img Hamartoma C0018552
img Neoplasms C0027651img Neoplasms by Site C00276538img Hypothalamic Neoplasms C0020659
img Nervous System Diseases C0027765img Nervous System Neoplasms C00277667img Hypothalamic Neoplasms C0020659
img Nervous System Diseases C0027765img Central Nervous System Diseases C00076827img Hypothalamic Neoplasms C0020659
img Nervous System Diseases C0027765img Central Nervous System Diseases C00076826img Hypothalamic Neoplasms C0020659
img Musculoskeletal Diseases C0026857img Musculoskeletal Abnormalities C01514915img Polydactyly C0152427
img Congenital, Hereditary, and Neonatal Diseases and Abnormalities C0027612img Congenital Abnormalities C00007686img Polydactyly C0152427
img Congenital, Hereditary, and Neonatal Diseases and Abnormalities C0027612img Congenital Abnormalities C00007684img Abnormalities, Multiple C0000772
Relationships (49)

Relation Types:
diso_​to_​diso : 49


Relationships:
none : 3
manifestation_​of : 45
permuted_​term_​of : 1
Page Size
Current 25
  Page 1 of 2
Prior Page
Current 1
Relation TypeCo-Occuring
Concept Count
RelationshipConcept
DISO_to_DISO7img Abnormalities, Multiple C0000772
DISO_to_DISO4img 755-756 HAMARTOMAS C0018552
DISO_to_DISO4img Polydactyly C0152427
DISO_to_DISOmanifestation_ofimg ANAL IMPERFORATION C0003466
DISO_to_DISOmanifestation_ofimg Abnormal lung lobation C0685695
DISO_to_DISOmanifestation_ofimg Absent external auditory canals C1840305
DISO_to_DISOmanifestation_ofimg Absent finger C0728895
DISO_to_DISOmanifestation_ofimg Adrenal gland hypoplasia C1840300
DISO_to_DISOmanifestation_ofimg Allanson Pantzar McLeod syndrome C0266313
DISO_to_DISOmanifestation_ofimg Anterior submucous laryngeal cleft C1840311
DISO_to_DISOmanifestation_ofimg Anteverted nares C1853244
DISO_to_DISOmanifestation_ofimg Bifid or hypoplastic epiglottis C1840312
DISO_to_DISOmanifestation_ofimg Caused by mutations in the GLI-Kruppel family member 3 gene (GLI3, 165240.0002) C1840314
DISO_to_DISOmanifestation_ofimg Cleft palate with cleft lip C0158646
DISO_to_DISOmanifestation_ofimg Congenital hemivertebra C0265677
DISO_to_DISOmanifestation_ofimg Congenital hypoplasia of penis C0266435
DISO_to_DISOmanifestation_ofimg Congenital hypoplasia of testis C0266425
DISO_to_DISOmanifestation_ofimg Congenital hypoplasia of tongue C0025988
DISO_to_DISOmanifestation_ofimg Congenital small ears C0152423
DISO_to_DISOmanifestation_ofimg Distal shortening of limbs C1840307
DISO_to_DISOmanifestation_ofimg Ductus Arteriosus, Patent C0013274
DISO_to_DISOmanifestation_ofimg Fetal Growth Retardation C0015934
DISO_to_DISOmanifestation_ofimg Flat nasal bridge C1837403
DISO_to_DISOmanifestation_ofimg Fused ribs C1844749
DISO_to_DISOmanifestation_ofimg Heart Septal Defects, Ventricular C0018818
Genes (1)

Species:
human : 1
SpeciesGeneGeneIdGene NameEvidence
HumanGLI32737GLI family zinc finger 3
img GENERIF, Score=1000, Pubmed Id: 12575661, UMLKSK CUI: C0265220
XRefs (1)

XRef Types:
cui : 1


ToppGene Datasets:
none : 1
ToppGene DatasetsXRef TypeXRef IdXRefValuesSourceTop % Rank
CUIimg C0265220Pallister-Hall Syndrome0self