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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: Thanatophoric Dysplasia (D013796)
..Starting node ..Short limb dwarf lethal Colavita Kozlowski type (C537597)
Child Nodes:
Sister Nodes:
..Kozlowski Warren Fisher syndrome (C537614)
..Larsen like syndrome, lethal type (C537872)
..Platyspondylic Lethal Skeletal Dysplasia, Torrance Type (C563627)
..Short limb dwarf lethal Colavita Kozlowski type (C537597)
..Skeletal dysplasia, San Diego type (C536670)
..Thanatophoric dysplasia Glasgow variant (C536506)
..Thanatophoric dysplasia, type 2 (C536508)
..Thanatophoric Dysplasia, Type I (C566844)
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM, CTD

Term ID:	10188
Name:	Short limb dwarf lethal Colavita Kozlowski type
Definition:
Alternative IDs:
ParentIDs:	MESH:D013796
TreeNumbers:	C05.116.099.343.110.500/C537597 \|C05.116.099.708.017.500/C537597 \|C05.660.585.984/C537597 \|C16.131.621.585.984/C537597 \|C16.320.240.500.500/C537597 \|C16.614.890/C537597
Synonyms:	Colavita Kozlowski syndrome
Slim Mappings:	Congenital abnormality\|Genetic disease (inborn)\|Infant-newborn disease\|Musculoskeletal disease
Reference:	MedGen: C537597 MeSH: C537597 OMIM: Genes:
Phenotypes
Disease Causing ClinVar Variants