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: Deafness (D003638)
Parent Node: Fibromatosis, Gingival (D005351)
..Starting node ..Jones syndrome (C535886)
Child Nodes:
Sister Nodes:
..FIBROMATOSIS, GINGIVAL, 1 (OMIM:135300)
..Fibromatosis, Gingival, 2 (C565323)
..Fibromatosis, gingival, 3 (C537928)
..Fibromatosis, Gingival, 4 (C567028)
..Fibromatosis, Gingival, Type 1 (C562884)
..Fibromatosis, Gingival, with Distinctive Facies (C565567)
..Fibromatosis, Gingival, with Hypertrichosis and Mental Retardation (C565331)
..Hypertrichosis Terminalis, Generalized, with or without Gingival Hyperplasia (C565016)
..Jones syndrome (C535886)
..Ramon Syndrome (C535285)
..Zimmerman Laband syndrome (C536725)
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM, CTD

Term ID:	5978
Name:	Jones syndrome
Definition:
Alternative IDs:
ParentIDs:	MESH:D003638\|MESH:D005351
TreeNumbers:	C07.465.525.304/C535886 \|C07.465.714.258.428.200/C535886 \|C07.650.525.304/C535886 \|C09.218.458.341.186/C535886 \|C10.597.751.418.341.186/C535886 \|C16.131.850.525.304/C535886 \|C23.888.592.763.393.341.186/C535886
Synonyms:	Fibromatosis gingival progressive deafness \|Fibromatosis, Gingival, With Progressive Deafness \|Gingival fibromatosis with progressive deafness \|Gingival fibromatosis with sensorineural hearing loss
Slim Mappings:	Congenital abnormality\|Ear-nose-throat disease\|Mouth disease\|Nervous system disease\|Signs and symptoms
Reference:	MedGen: C535886 MeSH: C535886 OMIM: Genes:
Phenotypes
Disease Causing ClinVar Variants