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: Congenital Abnormalities (D000013)
Parent Node: Stomatognathic Diseases (D009057)
..Starting node ..Stomatognathic System Abnormalities (D018640)
Child Nodes:
........Hypoglossia With Situs Inversus (C567567)
........Hypoglossia, Isolated (C567568)
........Maxillofacial Abnormalities (D019767) 169
........Mouth Abnormalities (D009056) 144
........Tooth Abnormalities (D014071) 130
Sister Nodes:
..Jaw Diseases (D007571) 199
..Mouth Diseases (D009059) 291
..Pharyngeal Diseases (D010608) 37
..Stomatognathic System Abnormalities (D018640) 329
..Temporomandibular Joint Disorders (D013705) 2
..Tooth Diseases (D014076) 193
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM, CTD

Term ID:	10692
Name:	Stomatognathic System Abnormalities
Definition:	Congenital structural abnormalities of the mouth and jaws, including the dentition.
Alternative IDs:
ParentIDs:	MESH:D000013\|MESH:D009057
TreeNumbers:	C07.650 \|C16.131.850
Synonyms:	Abnormalities, Stomatognathic System \|Abnormality, Stomatognathic System \|Stomatognathic System Abnormality
Slim Mappings:	Congenital abnormality\|Mouth disease
Reference:	MedGen: D018640 MeSH: D018640 OMIM: Genes:
Phenotypes
Disease Causing ClinVar Variants