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Details
Link-It Detail - Disease - Nevus, Sebaceous of Jadassohn
Debug Stats
  • ### Total Build Time: 70 ms 25.646 KB
  • CONCEPT_NAME gt=7 ms Completed: 7 ms rowSize= 356 bytes
  • CONCEPT_SOLR_HIT_STATS gt=0 Completed: 0 ms rowSize= 14 bytes
  • CONCEPT_DEFINITION gt=0 Completed: 0 ms rowSize= 491 bytes
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  • Skipping details on: CONCEPT_TEXT gt=NONE 0 Completed: 0 ms rowSize= 0 bytes
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  • CONCEPT_CHILDREN gt=0 Completed: 0 ms rowSize= 8 bytes
  • CONCEPT_ANCESTRAL_ROOTS gt=0 Completed: 0 ms rowSize= 8.030 KB
  • CONCEPT_RELATIONSHIPS gt=38 ms Completed: 38 ms rowSize= 12.505 KB
  • CONCEPT_GENES gt=10 ms Completed: 10 ms rowSize= 1.511 KB
  • CONCEPT_XREFS gt=3 ms Completed: 3 ms rowSize= 1.163 KB
  • CONCEPT_ANCILLARY gt=0 Completed: 0 ms rowSize= 14 bytes
  • Reload Stats
Disease (1)
Nevus, Sebaceous of Jadassohn C0265318
Definition (1)
A syndrome characterized by lesions occurring on the face, scalp, or neck which consist of congenital hypoplastic malformations of cutaneous structures and which over time undergo verrucous hyperplasia. Additionally it is associated with neurological symptoms and skeletal, ophthalmological, urogenital, and cardiovascular abnormalities.
Semantic Types (1)
Neoplastic Process (T191)
Parents (3)
img Nevus C0027960
img Neurocutaneous Syndromes C0265316
img Abnormalities, Multiple C0000772
Ancestral Roots
RootRoot Plus OneDepthParent
img Neoplasms C0027651img Neoplasms by Histologic Type C00276525img Nevus C0027960
img Nervous System Diseases C0027765img Neurocutaneous Syndromes C02653163img Neurocutaneous Syndromes C0265316
img Congenital, Hereditary, and Neonatal Diseases and Abnormalities C0027612img Congenital Abnormalities C00007686img Neurocutaneous Syndromes C0265316
img Skin and Connective Tissue Diseases C0175166img Skin Diseases C00372746img Neurocutaneous Syndromes C0265316
img Congenital, Hereditary, and Neonatal Diseases and Abnormalities C0027612img Genetic Diseases, Inborn C09501236img Neurocutaneous Syndromes C0265316
img Congenital, Hereditary, and Neonatal Diseases and Abnormalities C0027612img Congenital Abnormalities C00007684img Abnormalities, Multiple C0000772
Relationships (27)

Relation Types:
diso_​to_​anat : 1
diso_​to_​diso : 26


Relationships:
none : 5
expanded_​form_​of : 1
inheritance_​type_​of : 1
manifestation_​of : 20
Page Size
Current 25
  Page 1 of 2
Prior Page
Current 1
Relation TypeCo-Occuring
Concept Count
RelationshipConcept
DISO_to_DISO22img Cutaneous tumor C0037286
DISO_to_DISO15img Complication Aspects C1171258
DISO_to_ANAT9img Scalp C0036270
DISO_to_DISO9img MULTIPLE PRIMARY NEOPL C0027663
DISO_to_DISO7img Carcinoma, Squamous Cell C0007137
DISO_to_DISOmanifestation_ofimg Aortic Coarctation C0003492
DISO_to_DISOmanifestation_ofimg Asymmetric overgrowth C1834167
DISO_to_DISOmanifestation_ofimg Basal cell carcinoma C0007117
DISO_to_DISOmanifestation_ofimg Coloboma of eyelids, iris, and choroid C1834169
DISO_to_DISOmanifestation_ofimg Cranial asymmetry C1860245
DISO_to_DISOmanifestation_ofimg Finger abnormalities C2674737
DISO_to_DISOmanifestation_ofimg Granuloma, Giant Cell Reparative C0162375
DISO_to_DISOmanifestation_ofimg HORSESHOE KIDNEY C0221353
DISO_to_DISOmanifestation_ofimg Hemangioma ICD10CM:D18.0 C3276753
DISO_to_DISOmanifestation_ofimg Hypopigmentation C0162835
DISO_to_DISOmanifestation_ofimg Ichthyosis hystrix C0263580
DISO_to_DISOmanifestation_ofimg Intellectual Disability C0025362
DISO_to_DISOinheritance_type_ofimg Isolated cases C1853237
DISO_to_DISOmanifestation_ofimg Kyphoscoliosis deformity of spine C0575158
DISO_to_DISOmanifestation_ofimg Lid lipodermoid C1834168
DISO_to_DISOmanifestation_ofimg Linear epidermal naevus C0175743
DISO_to_DISOmanifestation_ofimg Linear nevus sebaceous, often in midfacial area C1834171
DISO_to_DISOexpanded_form_ofimg Nevus, Sebaceous of Jadassohn C0265318
DISO_to_DISOmanifestation_ofimg Pigmented, malformed teeth C2674736
DISO_to_DISOmanifestation_ofimg Seizures C0036572
Genes (1)

Species:
human : 1
SpeciesGeneGeneIdGene NameEvidence
HumanFGFR32261fibroblast growth factor receptor 3
img GENERIF, Score=1000, Pubmed Id: 18642369, UMLKSK CUI: C0265318
XRefs (1)

XRef Types:
cui : 1


ToppGene Datasets:
none : 1
ToppGene DatasetsXRef TypeXRef IdXRefValuesSourceTop % Rank
CUIimg C0265318Nevus, Sebaceous of Jadassohn0self