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: Jaw Abnormalities (D007569)
Parent Node: Mandibular Diseases (D008336)
..Starting node ..Prognathism (D011378)
Child Nodes:
........Jorgenson Lenz syndrome (C536292)
........Microcephaly, microphthalmia, ectrodactyly of lower limbs, and prognathism (C537686)
........MOMES Syndrome (C564660)
........Prognathism, Mandibular (C562559)
Sister Nodes:
..Craniomandibular Disorders (D017271) 4
..Mandibular Neoplasms (D008339) 1
..Prognathism (D011378) 4
..Retrognathia (D063173) 3
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM, CTD

Term ID:	9308
Name:	Prognathism
Definition:	A condition marked by abnormal protrusion of the mandible. (Dorland, 27th ed)
Alternative IDs:
ParentIDs:	MESH:D007569\|MESH:D008336
TreeNumbers:	C05.500.460.655 \|C05.500.607.655 \|C05.660.207.540.460.655 \|C07.320.440.655 \|C07.320.610.655 \|C07.650.500.460.655 \|C16.131.621.207.540.460.655 \|C16.131.850.500.460.655
Synonyms:	Prognathisms
Slim Mappings:	Congenital abnormality\|Mouth disease\|Musculoskeletal disease
Reference:	MedGen: D011378 MeSH: D011378 OMIM: Genes:
Phenotypes
Disease Causing ClinVar Variants