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Details
Link-It Detail - Disease - Hypotrichosis
Debug Stats
  • ### Total Build Time: 196 ms 37.837 KB
  • CONCEPT_NAME gt=6 ms Completed: 6 ms rowSize= 324 bytes
  • CONCEPT_SOLR_HIT_STATS gt=0 Completed: 0 ms rowSize= 14 bytes
  • CONCEPT_DEFINITION gt=0 Completed: 0 ms rowSize= 221 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=9 ms Completed: 9 ms rowSize= 549 bytes
  • CONCEPT_CHILDREN gt=4 ms Completed: 4 ms rowSize= 546 bytes
  • CONCEPT_ANCESTRAL_ROOTS gt=1 ms Completed: 1 ms rowSize= 1.509 KB
  • CONCEPT_RELATIONSHIPS gt=114 ms Completed: 114 ms rowSize= 13.611 KB
  • CONCEPT_GENES gt=50 ms Completed: 50 ms rowSize= 19.757 KB
  • CONCEPT_XREFS gt=10 ms Completed: 10 ms rowSize= 1.147 KB
  • CONCEPT_ANCILLARY gt=1 ms Completed: 1 ms rowSize= 14 bytes
  • Reload Stats
Disease (1)
Hypotrichosis C0020678
Definition (1)
Presence of less than the normal amount of hair. (Dorland, 27th ed)
Semantic Types (1)
Disease or Syndrome (T047)
Parents (1)
img Hair Diseases C0018500
Children (1)
img Alopecia C0002170
Ancestral Roots
RootRoot Plus OneDepthParent
img Skin and Connective Tissue Diseases C0175166img Skin Diseases C00372744img Hair Diseases C0018500
Relationships (36)

Relation Types:
diso_​to_​anat : 5
diso_​to_​chem : 6
diso_​to_​diso : 22
diso_​to_​phen : 2
diso_​to_​phys : 1


Relationships:
none : 12
is_​associated_​anatomic_​site_​of : 1
is_​finding_​of_​disease : 1
is_​primary_​anatomic_​site_​of_​disease : 1
isa : 8
location_​of : 1
mapped_​to : 11
permuted_​term_​of : 1
Page Size
Current 25
  Page 1 of 2
Prior Page
Current 1
Relation TypeCo-Occuring
Concept Count
RelationshipConcept
DISO_to_PHEN76img genetic aspects C0017399
DISO_to_PHEN41img genetic aspects C0017399
DISO_to_PHYS17img Mutation C0026882
DISO_to_ANAT15img Hair C0018494
DISO_to_CHEM15img Lipase C0023764
DISO_to_ANAT10img Hair C0018494
DISO_to_CHEM10img P A 002 PURINOCEPTORS C0206495
DISO_to_CHEM10img Receptors, Purinergic P2 C0206495
DISO_to_DISO10img Hair Diseases C0018500
DISO_to_CHEM8img Cadherins C0006631
DISO_to_CHEM8img Desmoglein C0113216
DISO_to_CHEM8img Desmogleins C0113216
DISO_to_ANATlocation_ofimg Hair C0018494
DISO_to_ANATis_associated_anatomic_site_ofimg Integumentary System C0037267
DISO_to_ANATis_primary_anatomic_site_of_diseaseimg Skin C1123023
DISO_to_DISOmapped_toimg ARIH C1835851
DISO_to_DISOmapped_toimg Alopecia C0002170
DISO_to_DISOisaimg Alopecia, postfebrile C0002179
DISO_to_DISOmapped_toimg Basaran Yilmaz syndrome C2931577
DISO_to_DISOisaimg Congenital hypotrichia C0265993
DISO_to_DISOis_finding_of_diseaseimg Cutaneous Involvement C1511567
DISO_to_DISOisaimg EYELASH SCANTINESS C0155214
DISO_to_DISOisaimg Eyebrows sparse C0578682
DISO_to_DISOmapped_toimg Follicular atrophoderma and basal cell epitheliomata C0346104
DISO_to_DISOmapped_toimg HYPOTRICHOSIS, CONGENITAL, WITH JUVENILE MACULAR DYSTROPHY C1832162
Genes (81)

Species:
human : 81
Page Size
Current 25
  Page 1 of 4
Prior Page
Current 1
SpeciesGeneGeneIdGene NameEvidence
HumanLIPH200879lipase, member H
INFERRED, Score=800, UMLKSK CUI: C0020678
HumanDSG4147409desmoglein 4
img GENERIF, Score=1000, Pubmed Id: 16382669, UMLKSK CUI: C0020678
HumanEDARADD128178EDAR-associated death domain
img OMIM, Score=1000, UMLKSK CUI: C0020678
HumanFCRL3115352Fc receptor-like 3
INFERRED, Score=800, UMLKSK CUI: C0020678
HumanDCAF1780067DDB1 and CUL4 associated factor 17
INFERRED, Score=800, UMLKSK CUI: C0020678
HumanDCLRE1C64421DNA cross-link repair 1C
INFERRED, Score=800, UMLKSK CUI: C0020678
HumanMCCC264087methylcrotonoyl-CoA carboxylase 2 (beta)
INFERRED, Score=800, UMLKSK CUI: C0020678
HumanHR55806hair growth associated
img OMIM, Score=1000, UMLKSK CUI: C0020678
HumanSLC39A455630solute carrier family 39 (zinc transporter), member 4
INFERRED, Score=800, UMLKSK CUI: C0020678
HumanRBM2855131RNA binding motif protein 28
INFERRED, Score=800, UMLKSK CUI: C0020678
HumanSOX1854345SRY (sex determining region Y)-box 18
img OMIM, Score=1000, UMLKSK CUI: C0020678
HumanIL1F526525interleukin 36 receptor antagonist
INFERRED, Score=800, UMLKSK CUI: C0020678
HumanTINF226277TERF1 (TRF1)-interacting nuclear factor 2
INFERRED, Score=800, UMLKSK CUI: C0020678
HumanPSIP111168PC4 and SFRS1 interacting protein 1
INFERRED, Score=800, UMLKSK CUI: C0020678
HumanEDAR10913ectodysplasin A receptor
img OMIM, Score=1000, UMLKSK CUI: C0020678
HumanGJB610804gap junction protein, beta 6, 30kDa
INFERRED, Score=800, UMLKSK CUI: C0020678
HumanEBP10682emopamil binding protein (sterol isomerase)
INFERRED, Score=800, UMLKSK CUI: C0020678
HumanTNFSF13B10673tumor necrosis factor (ligand) superfamily, member 13b
INFERRED, Score=800, UMLKSK CUI: C0020678
HumanFST10468follistatin
INFERRED, Score=800, UMLKSK CUI: C0020678
HumanLPAR610161lysophosphatidic acid receptor 6
img GENERIF, Score=1000, Pubmed Id: 18692127, UMLKSK CUI: C0020678
HumanRECQL49401RecQ protein-like 4
INFERRED, Score=800, UMLKSK CUI: C0020678
HumanCLDN19076claudin 1
img OMIM, Score=1000, UMLKSK CUI: C0020678
HumanTNFSF138741tumor necrosis factor (ligand) superfamily, member 13
INFERRED, Score=800, UMLKSK CUI: C0020678
HumanTP638626tumor protein p63
INFERRED, Score=800, UMLKSK CUI: C0020678
HumanOFD18481oral-facial-digital syndrome 1
INFERRED, Score=800, UMLKSK CUI: C0020678
XRefs (1)

XRef Types:
cui : 1


ToppGene Datasets:
none : 1
ToppGene DatasetsXRef TypeXRef IdXRefValuesSourceTop % Rank
CUIimg C0020678Hypotrichosis0self