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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: Exostoses, Multiple Hereditary (D005097)
Parent Node: Hyaline Membrane Disease (D006819)
Parent Node: Megalencephaly (D058627)
Parent Node: Polyhydramnios (D006831)
..Starting node ..Kniest like dysplasia lethal (C537208)
Child Nodes:
Sister Nodes:
..Circumvallate Placenta Syndrome (C565847)
..Kniest like dysplasia lethal (C537208)
..Polyhydramnios, Chronic Idiopathic (C564876)
..Polyhydramnios, Megalencephaly, And Symptomatic Epilepsy (C567020)
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM, CTD

Term ID:	6121
Name:	Kniest like dysplasia lethal
Definition:
Alternative IDs:
ParentIDs:	MESH:D005097\|MESH:D006819\|MESH:D006831\|MESH:D058627
TreeNumbers:	C04.557.450.565.575.610.615.325/C537208 \|C04.700.330/C537208 \|C05.116.099.708.670.615.325/C537208 \|C05.116.540.310.500/C537208 \|C05.660.207.536/C537208 \|C08.381.842.475/C537208 \|C08.618.842.475/C537208 \|C10.500.507.400.249/C537208 \|C13.703.610/C537208 \|C16.131.62
Synonyms:	Arthrosis, flat face, hypotonia, short neck and macrocephaly \|Kniest-Like Dysplasia, Lethal \|Lethal Kniest-like dysplasia
Slim Mappings:	Cancer\|Congenital abnormality\|Genetic disease (inborn)\|Infant-newborn disease\|Musculoskeletal disease\|Nervous system disease\|Pregnancy complication\|Respiratory tract disease
Reference:	MedGen: C537208 MeSH: C537208 OMIM: Genes:
Phenotypes
Disease Causing ClinVar Variants