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: Ectodermal Dysplasia (D004476)
Parent Node: Intellectual Disability (D008607)
Parent Node: Microcephaly (D008831)
Parent Node: Odontodysplasia (D018126)
..Starting node ..Trichodental syndrome (C536551)
Child Nodes:
Sister Nodes:
..Odontoonychodermal dysplasia (C537742)
..Singleton Merten syndrome (C537343)
..Trichodental syndrome (C536551)
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM, CTD

Term ID:	11226
Name:	Trichodental syndrome
Definition:
Alternative IDs:
ParentIDs:	MESH:D004476\|MESH:D008607\|MESH:D008831\|MESH:D018126
TreeNumbers:	C05.660.207.620/C536551 \|C07.650.800.600/C536551 \|C07.793.700.600/C536551 \|C10.500.507.400.500/C536551 \|C10.597.606.643/C536551 \|C16.131.077.350/C536551 \|C16.131.621.207.620/C536551 \|C16.131.666.507.400.500/C536551 \|C16.131.831.350/C536551 \|C16.131.850.800.600/C5
Synonyms:	Tricho-dental dysplasia \|Trichodental dysplasia \|Tricho-dental syndrome
Slim Mappings:	Congenital abnormality\|Genetic disease (inborn)\|Mental disorder\|Mouth disease\|Musculoskeletal disease\|Nervous system disease\|Signs and symptoms\|Skin disease
Reference:	MedGen: C536551 MeSH: C536551 OMIM: Genes:
Phenotypes
Disease Causing ClinVar Variants