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Examples Gene: MT-ND1, POLG, Region: M:1-1000 Variant: m.8993T>G, 1:g.10042757T>C rs3888511 MSCV_0000006, ClinVar: RCV000000015, Disease: Leigh syndrome, Phenotype: Retinopathy

Disease Browser
Parent Node: Abnormalities, Multiple (D000015)
Parent Node: Neurocutaneous Syndromes (D020752)
Parent Node: Nevus (D009506)
..Starting node ..Nevus, Sebaceous of Jadassohn (D054000)
Child Nodes:
........Sebaceous Nevus Syndrome and Hemimegalencephaly (C563339)
Sister Nodes:
..Becker Nevus Syndrome (C565735)
..Congenital Lipomatous Overgrowth, Vascular Malformations, and Epidermal Nevi (C567863)
..Connective Tissue Nevus (C562737)
..Dysplastic Nevus Syndrome (D004416)
..Epidermal Nevus (C580062)
..Nevus, Halo (D055882)
..Nevus, Intradermal (D018330)
..Nevus, Pigmented (D009508) 11
..Nevus, Sebaceous of Jadassohn (D054000) 1
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM, CTD

Term ID:	8046
Name:	Nevus, Sebaceous of Jadassohn
Definition:	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.
Alternative IDs:
ParentIDs:	MESH:D000015\|MESH:D009506\|MESH:D020752
TreeNumbers:	C04.557.665.560.700 \|C10.562.700 \|C16.131.077.633
Synonyms:	Epidermal Nevus, Verrucous \|Feuerstein Mims Syndrome \|Feuerstein-Mims Syndrome \|Inflammatory Linear Verrucose Epidermal Nevus \|Inflammatory Linear Verrucous Epidermal Naevus \|Jadassohn Nevus Phakomatosis \|Jadassohn Nevus Sebaceus \|Jadassohn Sebaceous Nevus \|Line
Slim Mappings:	Cancer\|Congenital abnormality\|Nervous system disease
Reference:	MedGen: D054000 MeSH: D054000 OMIM: Genes:
Phenotypes
Disease Causing ClinVar Variants