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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: Steroid Metabolism, Inborn Errors (D043202)
Parent Node: Tooth, Supernumerary (D014096)
..Starting node ..Lyngstadaas syndrome (C537490)
Child Nodes:
Sister Nodes:
..Acrofacial dysostosis Catania form (C538182)
..Acrofacial dysostosis, Palagonia type (C538185)
..Lyngstadaas syndrome (C537490)
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM, CTD

Term ID:	6642
Name:	Lyngstadaas syndrome
Definition:
Alternative IDs:
ParentIDs:	MESH:D014096\|MESH:D043202
TreeNumbers:	C07.650.800.850/C537490 \|C07.793.700.850/C537490 \|C16.131.850.800.850/C537490 \|C16.320.565.925/C537490 \|C18.452.648.925/C537490
Synonyms:	Steroid dehydrogenase deficiency dental anomalies
Slim Mappings:	Congenital abnormality\|Genetic disease (inborn)\|Metabolic disease\|Mouth disease
Reference:	MedGen: C537490 MeSH: C537490 OMIM: Genes:
Phenotypes
Disease Causing ClinVar Variants