Disease browser and phenotype portal

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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: Pathological Conditions, Anatomical (D020763)
Parent Node: Skin Diseases, Vesiculobullous (D012872)
..Starting node ..Blister (D001768)
Child Nodes:
........Hypotrichosis And Recurrent Skin Vesicles (C567751)
........Poikiloderma of Kindler (C536321)
........Pulmonary Bullae Causing Pneumothorax (C564863)
Sister Nodes:
..Acantholysis (D000051) 1
..Amyloidosis, Cutaneous Bullous (C562644)
..Atrichia with Papular Lesions (C565924)
..Blister (D001768) 3
..Dermatitis Herpetiformis (D003874) 1
..Eczema, Dyshidrotic (D011146)
..Eosinophilic pustular folliculitis (C535953)
..Epidermolysis Bullosa (D004820) 29
..Erythema Multiforme (D004892) 1
..Hydroa Vacciniforme (D006837) 1
..Linear IgA Bullous Dermatosis (D062027)
..Papular urticaria (C537169)
..Pemphigoid Gestationis (D006559)
..Pemphigoid, Benign Mucous Membrane (D010390)
..Pemphigoid, Bullous (D010391)
..Pemphigus (D010392) 2
..Pemphigus, Benign Familial (D016506)
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM, CTD

Term ID:	1325
Name:	Blister
Definition:	Visible accumulations of fluid within or beneath the epidermis.
Alternative IDs:
ParentIDs:	MESH:D012872\|MESH:D020763
TreeNumbers:	C17.800.865.187 \|C23.300.122
Synonyms:	Bleb \|Blebs \|Blisters \|Bulla \|Bullae \|Bullous Lesion \|Bullous Lesions \|Lesion, Bullous \|Lesions, Bullous \|Vesication \|Vesications
Slim Mappings:	Pathology (anatomical condition)\|Skin disease
Reference:	MedGen: D001768 MeSH: D001768 OMIM: Genes:
Phenotypes
Disease Causing ClinVar Variants