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Details
Link-It Detail - Disease - Piebaldism
Debug Stats
  • ### Total Build Time: 21 ms 23.836 KB
  • CONCEPT_NAME gt=2 ms Completed: 2 ms rowSize= 318 bytes
  • CONCEPT_SOLR_HIT_STATS gt=0 Completed: 0 ms rowSize= 14 bytes
  • CONCEPT_DEFINITION gt=0 Completed: 0 ms rowSize= 581 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=4 ms Completed: 4 ms rowSize= 188 bytes
  • Skipping details on: CONCEPT_NAMESPACE gt=NONE 0 Completed: 0 ms rowSize= 0 bytes
  • CONCEPT_PARENTS gt=2 ms Completed: 2 ms rowSize= 544 bytes
  • CONCEPT_CHILDREN gt=0 Completed: 0 ms rowSize= 8 bytes
  • CONCEPT_ANCESTRAL_ROOTS gt=0 Completed: 0 ms rowSize= 7.922 KB
  • CONCEPT_RELATIONSHIPS gt=4 ms Completed: 4 ms rowSize= 5.710 KB
  • CONCEPT_GENES gt=7 ms Completed: 7 ms rowSize= 7.432 KB
  • CONCEPT_XREFS gt=1 ms Completed: 1 ms rowSize= 1.145 KB
  • CONCEPT_ANCILLARY gt=1 ms Completed: 1 ms rowSize= 14 bytes
  • Reload Stats
Disease (1)
Piebaldism C0080024
Definition (1)
Autosomal dominant, congenital disorder characterized by localized hypomelanosis of the skin and hair. The most familiar feature is a white forelock presenting in 80 to 90 percent of the patients. The underlying defect is possibly related to the differentiation and migration of melanoblasts, as well as to defective development of the neural crest (neurocristopathy). Piebaldism may be closely related to WAARDENBURG SYNDROME.
Semantic Types (1)
Disease or Syndrome (T047)
Parents (1)
img Albinism C0001916
Ancestral Roots
RootRoot Plus OneDepthParent
img Congenital, Hereditary, and Neonatal Diseases and Abnormalities C0027612img Genetic Diseases, Inborn C09501236img Albinism C0001916
img Nutritional and Metabolic Diseases C0028715img Metabolic Diseases C00255176img Albinism C0001916
img Skin and Connective Tissue Diseases C0175166img Skin Diseases C00372746img Albinism C0001916
img Skin and Connective Tissue Diseases C0175166img Skin Diseases C00372745img Albinism C0001916
img Congenital, Hereditary, and Neonatal Diseases and Abnormalities C0027612img Genetic Diseases, Inborn C09501235img Albinism C0001916
img Eye Diseases C0015397img Eye Diseases, Hereditary C00153984img Albinism C0001916
Relationships (11)

Relation Types:
diso_​to_​chem : 1
diso_​to_​diso : 7
diso_​to_​phen : 2
diso_​to_​phys : 1


Relationships:
none : 4
isa : 1
mapped_​to : 5
permuted_​term_​of : 1
Relation TypeCo-Occuring
Concept Count
RelationshipConcept
DISO_to_PHEN22img genetic aspects C0017399
DISO_to_PHEN18img genetic aspects C0017399
DISO_to_CHEM9img Proto-Oncogene Protein c-kit C0072470
DISO_to_PHYS8img Missense Mutation C0599155
DISO_to_DISOisaimg Chediak-Higashi Syndrome C0007965
DISO_to_DISOmapped_toimg Cutaneous albinism hermine phenotype C1856899
DISO_to_DISOmapped_toimg GRISCELLI SYNDROME, TYPE 1 C1859194
DISO_to_DISOmapped_toimg GRISCELLI SYNDROME, TYPE 2 C1868679
DISO_to_DISOmapped_toimg GRISCELLI SYNDROME, TYPE 3 C1836573
DISO_to_DISOmapped_toimg PIEBALD TRAIT WITH NEUROLOGIC DEFECTS C1868311
DISO_to_DISOpermuted_term_ofimg Piebaldism C0080024
Genes (6)

Species:
human : 6
SpeciesGeneGeneIdGene NameEvidence
HumanAP3B18546adaptor-related protein complex 3, beta 1 subunit
img OMIM, Score=1000, UMLKSK CUI: C0080024
HumanTYRP17306tyrosinase-related protein 1
img OMIM, Score=1000, UMLKSK CUI: C0080024
HumanSNAI26591snail family zinc finger 2
img OMIM, Score=1000, UMLKSK CUI: C0080024
HumanPAX35077paired box 3
img OMIM, Score=1000, UMLKSK CUI: C0080024
img OMIM, Score=882, UMLKSK CUI: C0080024
HumanMITF4286microphthalmia-associated transcription factor
img OMIM, Score=882, UMLKSK CUI: C0080024
HumanKIT3815v-kit Hardy-Zuckerman 4 feline sarcoma viral oncogene homolog
img GENERIF, Score=1000, Pubmed Id: 17124503, UMLKSK CUI: C0080024
img OMIM, Score=1000, UMLKSK CUI: C0080024
img GENERIF, Score=1000, Pubmed Id: 12204004, UMLKSK CUI: C0080024
XRefs (1)

XRef Types:
cui : 1


ToppGene Datasets:
none : 1
ToppGene DatasetsXRef TypeXRef IdXRefValuesSourceTop % Rank
CUIimg C0080024Piebaldism0self