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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: Gingival Overgrowth (D019214)
Parent Node: Mouth Abnormalities (D009056)
..Starting node ..Fibromatosis, Gingival (D005351)
Child 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)
Sister Nodes:
..Ankyloglossia (C562396)
..Calabro syndrome (C537960)
..Cleft Lip (D002971) 59
..Cleft Palate (D002972) 103
..Cleft Palate-Lateral Synechia Syndrome (C563047)
..Contractures, Congenital, Torticollis, and Malignant Hyperthermia (C565679)
..Fibromatosis, Gingival (D005351) 11
..Jagell Holmgren Hofer syndrome (C537364)
..Macrostomia (D008265) 3
..Microstomia (D008865) 4
..Taurodontism, microdontia, and dens invaginatus (C536947)
..Temtamy preaxial brachydactyly syndrome (C536958)
..Velopharyngeal Insufficiency (D014681)
..Verloove-Vanhorick Brubakk syndrome (C536541)
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM, CTD

Term ID:	4279
Name:	Fibromatosis, Gingival
Definition:	Generalized or localized diffuse fibrous overgrowth of the gingival tissue, usually transmitted as an autosomal dominant trait, but some cases are idiopathic and others produced by drugs. The enlarged gingiva is pink, firm, and has a leather-like consistency with a minutely pebbled surface and in severe cases the teeth are almost completely covered and the enlargement projects into the oral vestibule. (Dorland, 28th ed)
Alternative IDs:
ParentIDs:	MESH:D009056\|MESH:D019214
TreeNumbers:	C07.465.525.304 \|C07.465.714.258.428.200 \|C07.650.525.304 \|C16.131.850.525.304
Synonyms:	Fibromatoses, Gingival \|Fibromatosis Gingivae \|Gingival Fibromatoses \|Gingival Fibromatosis
Slim Mappings:	Congenital abnormality\|Mouth disease
Reference:	MedGen: D005351 MeSH: D005351 OMIM: Genes:
Phenotypes
Disease Causing ClinVar Variants