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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: Darier Disease (D007644)
..Starting node ..Burnett Schwartz Berberian syndrome (C537412)
Child Nodes:
Sister Nodes:
..Burnett Schwartz Berberian syndrome (C537412)
..Darier Disease, Acral Hemorrhagic Type (C565125)
..Darier Disease, Segmental (C565126)
..Keratosis follicularis dwarfism cerebral atrophy (C536158)
..Keratosis Follicularis Spinulosa Decalvans, Autosomal Dominant (C567553)
..Kyrle disease (C538130)
..Van Den Bosch Syndrome (C563129)
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM, CTD

Term ID:	1540
Name:	Burnett Schwartz Berberian syndrome
Definition:
Alternative IDs:
ParentIDs:	MESH:D000015\|MESH:D007644
TreeNumbers:	C16.131.077/C537412 \|C16.320.850.190/C537412 \|C17.800.428.275/C537412 \|C17.800.827.190/C537412
Synonyms:	Amelogenesis imperfecta, hypoplastic/hypomaturation, X-linked 2 \|Atrophodermia reticulata \|Atrophodermia Reticulata Symmetrica Faciei \|Atrophodermia vermiculata \|Folliculitis ulerythematosa \|Folliculitis ulerythematosa reticulata \|Honeycomb atrophy \|Keratosis p
Slim Mappings:	Congenital abnormality\|Genetic disease (inborn)\|Skin disease
Reference:	MedGen: C537412 MeSH: C537412 OMIM: Genes:
Phenotypes
Disease Causing ClinVar Variants