Disease browser and phenotype portal

Hello! Guest! Please Login or Register! Clinician Mode

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: Bone Diseases, Developmental (D001848)
Parent Node: Thanatophoric Dysplasia (D013796)
..Starting node ..Kozlowski Warren Fisher syndrome (C537614)
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:	6141
Name:	Kozlowski Warren Fisher syndrome
Definition:
Alternative IDs:
ParentIDs:	MESH:D001848\|MESH:D013796
TreeNumbers:	C05.116.099.343.110.500/C537614 \|C05.116.099.708.017.500/C537614 \|C05.116.099/C537614 \|C05.660.585.984/C537614 \|C16.131.621.585.984/C537614 \|C16.320.240.500.500/C537614 \|C16.614.890/C537614
Synonyms:	Cloverleaf skull generalised bone dysplasia
Slim Mappings:	Congenital abnormality\|Genetic disease (inborn)\|Infant-newborn disease\|Musculoskeletal disease
Reference:	MedGen: C537614 MeSH: C537614 OMIM: Genes:
Phenotypes
Disease Causing ClinVar Variants