Disease browser and phenotype portal

Hello! Guest! Please Login or Register! Clinician Mode

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: Fibromatosis, Gingival (D005351)
..Starting node ..Fibromatosis, Gingival, Type 1 (C562884)
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:	4284
Name:	Fibromatosis, Gingival, Type 1
Definition:
Alternative IDs:
ParentIDs:	MESH:D005351
TreeNumbers:	C07.465.525.304/C562884 \|C07.465.714.258.428.200/C562884 \|C07.650.525.304/C562884 \|C16.131.850.525.304/C562884
Synonyms:	Fibromatosis, Gingival, Hereditary \|GINGF1
Slim Mappings:	Congenital abnormality\|Mouth disease
Reference:	MedGen: C562884 MeSH: C562884 OMIM: Genes:
Phenotypes
Disease Causing ClinVar Variants