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Details
Link-It Detail - Disease - Hypopigmentation
Debug Stats
  • ### Total Build Time: 167 ms 37.879 KB
  • CONCEPT_NAME gt=5 ms Completed: 5 ms rowSize= 385 bytes
  • CONCEPT_SOLR_HIT_STATS gt=0 Completed: 0 ms rowSize= 14 bytes
  • CONCEPT_DEFINITION gt=0 Completed: 0 ms rowSize= 393 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= 558 bytes
  • CONCEPT_CHILDREN gt=7 ms Completed: 7 ms rowSize= 972 bytes
  • CONCEPT_ANCESTRAL_ROOTS gt=5 ms Completed: 5 ms rowSize= 1.518 KB
  • CONCEPT_RELATIONSHIPS gt=97 ms Completed: 97 ms rowSize= 13.450 KB
  • CONCEPT_GENES gt=42 ms Completed: 42 ms rowSize= 19.296 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 (2)
Hypopigmentation C0162835
Hypopigmentation disorder
Definition (1)
A condition caused by a deficiency or a loss of melanin pigmentation in the epidermis, also known as hypomelanosis. Hypopigmentation can be localized or generalized, and may result from genetic defects, trauma, inflammation, or infections.
Semantic Types (1)
Disease or Syndrome (T047)
Parents (1)
img Pigmentation Disorders C0549567
Children (2)
img Vitiligo C0042900
img Albinism C0001916
Ancestral Roots
RootRoot Plus OneDepthParent
img Skin and Connective Tissue Diseases C0175166img Skin Diseases C00372744img Pigmentation Disorders C0549567
Relationships (58)

Relation Types:
diso_​to_​anat : 4
diso_​to_​chem : 7
diso_​to_​diso : 39
diso_​to_​phen : 2
diso_​to_​phys : 6


Relationships:
none : 37
associated_​with : 5
isa : 7
location_​of : 1
mapped_​to : 4
may_​treat : 2
permuted_​term_​of : 1
used_​for : 1
Page Size
Current 25
  Page 1 of 3
Prior Page
Current 1
Relation TypeCo-Occuring
Concept Count
RelationshipConcept
DISO_to_DISO41img Cutaneous tumor C0037286
DISO_to_DISO41img chemically induced C0007994
DISO_to_PHEN41img genetic aspects C0017399
DISO_to_DISO28img Complication Aspects C1171258
DISO_to_PHEN27img genetic aspects C0017399
DISO_to_DISO26img chemically induced C0007994
DISO_to_DISO25img Hyperpigmentation C0162834
DISO_to_DISO22img Complication Aspects C1171258
DISO_to_DISO21img Cutaneous tumor C0037286
DISO_to_ANAT19img Skin C1123023
DISO_to_DISO14img Nevus C0027960
DISO_to_PHYS14img Skin Pigmentation C0037290
DISO_to_ANAT13img Melanocytes C0025201
DISO_to_DISO13img Vitiligo C0042900
DISO_to_DISO12img Mycosis Fungoides C0026948
DISO_to_PHYS11img Hair Color C0018498
DISO_to_DISO10img Dermatologic disorders C0037274
DISO_to_DISO9img Hyperpigmentation C0162834
DISO_to_DISO9img Nevus, Pigmented C0027962
DISO_to_DISO8img Hair Diseases C0018500
DISO_to_DISO8img Mycosis Fungoides C0026948
DISO_to_DISO8img Nevus C0027960
DISO_to_ANAT7img Skin C1123023
DISO_to_CHEM7img Melanin C0025196
DISO_to_CHEM7img Melanins C0025196
Genes (73)

Species:
human : 73
Page Size
Current 25
  Page 1 of 3
Prior Page
Current 1
SpeciesGeneGeneIdGene NameEvidence
HumanBLOC1S3388552biogenesis of lysosomal organelles complex-1, subunit 3
INFERRED, Score=800, UMLKSK CUI: C0162835
HumanAIS260402Adolescent idiopathic scoliosis
INFERRED, Score=800, UMLKSK CUI: C0162835
HumanNEWENTRY192343Record to support submission of GeneRIFs for a gene not in Gene (human; man).
INFERRED, Score=800, UMLKSK CUI: C0162835
HumanHPS489781Hermansky-Pudlak syndrome 4
INFERRED, Score=800, UMLKSK CUI: C0162835
HumanHPS384343Hermansky-Pudlak syndrome 3
INFERRED, Score=800, UMLKSK CUI: C0162835
HumanDTNBP184062dystrobrevin binding protein 1
INFERRED, Score=800, UMLKSK CUI: C0162835
HumanHPS679803Hermansky-Pudlak syndrome 6
INFERRED, Score=800, UMLKSK CUI: C0162835
HumanMLPH79083melanophilin
img GENERIF, Score=694, Pubmed Id: 12897212, UMLKSK CUI: C0162835
HumanVPS33A65082vacuolar protein sorting 33 homolog A (S. cerevisiae)
INFERRED, Score=800, UMLKSK CUI: C0162835
HumanC12orf1060314chromosome 12 open reading frame 10
INFERRED, Score=800, UMLKSK CUI: C0162835
HumanSLC45A251151solute carrier family 45, member 2
INFERRED, Score=800, UMLKSK CUI: C0162835
HumanROBLD328956
img OMIM, Score=1000, UMLKSK CUI: C0162835
HumanSLC17A526503solute carrier family 17 (acidic sugar transporter), member 5
img OMIM, Score=1000, UMLKSK CUI: C0162835
HumanPTPN2226191protein tyrosine phosphatase, non-receptor type 22 (lymphoid)
INFERRED, Score=800, UMLKSK CUI: C0162835
HumanRAB3823682RAB38, member RAS oncogene family
INFERRED, Score=800, UMLKSK CUI: C0162835
HumanMSRB222921methionine sulfoxide reductase B2
INFERRED, Score=800, UMLKSK CUI: C0162835
HumanNLRP122861NLR family, pyrin domain containing 1
INFERRED, Score=800, UMLKSK CUI: C0162835
HumanHPS511234Hermansky-Pudlak syndrome 5
INFERRED, Score=800, UMLKSK CUI: C0162835
HumanABCC410257ATP-binding cassette, sub-family C (CFTR/MRP), member 4
INFERRED, Score=800, UMLKSK CUI: C0162835
HumanAP3B18546adaptor-related protein complex 3, beta 1 subunit
INFERRED, Score=800, UMLKSK CUI: C0162835
HumanUROS7390uroporphyrinogen III synthase
img OMIM, Score=1000, UMLKSK CUI: C0162835
HumanUBE3A7337ubiquitin protein ligase E3A
img OMIM, Score=1000, UMLKSK CUI: C0162835
HumanTYRP17306tyrosinase-related protein 1
INFERRED, Score=800, UMLKSK CUI: C0162835
HumanTYR7299tyrosinase
img OMIM, Score=1000, UMLKSK CUI: C0162835
HumanTP537157tumor protein p53
INFERRED, Score=800, UMLKSK CUI: C0162835
XRefs (1)

XRef Types:
cui : 1


ToppGene Datasets:
none : 1
ToppGene DatasetsXRef TypeXRef IdXRefValuesSourceTop % Rank
CUIimg C0162835Hypopigmentation0self