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: Mouth Diseases (D009059)
Parent Node: Stomatognathic System Abnormalities (D018640)
..Starting node ..Mouth Abnormalities (D009056)
Child 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)
Sister Nodes:
..Hypoglossia With Situs Inversus (C567567)
..Hypoglossia, Isolated (C567568)
..Maxillofacial Abnormalities (D019767) 169
..Mouth Abnormalities (D009056) 144
..Tooth Abnormalities (D014071) 130
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM, CTD

Term ID:	7400
Name:	Mouth Abnormalities
Definition:	Congenital absence of or defects in structures of the mouth.
Alternative IDs:
ParentIDs:	MESH:D009059\|MESH:D018640
TreeNumbers:	C07.465.525 \|C07.650.525 \|C16.131.850.525
Synonyms:	Abnormalities, Mouth \|Abnormality, Mouth \|Mouth Abnormality
Slim Mappings:	Congenital abnormality\|Mouth disease
Reference:	MedGen: D009056 MeSH: D009056 OMIM: Genes:
Phenotypes
Disease Causing ClinVar Variants