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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: Klippel-Feil Syndrome (D007714)
..Starting node ..Segmentation syndrome 1 (C537538)
Child Nodes:
Sister Nodes:
..Calabro syndrome (C537960)
..Klippel Feil syndrome dominant type (C536887) 1
..Klippel Feil syndrome recessive type (C536888)
..Segmentation syndrome 1 (C537538)
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM, CTD

Term ID:	10107
Name:	Segmentation syndrome 1
Definition:
Alternative IDs:
ParentIDs:	MESH:D007714
TreeNumbers:	C05.116.099.370.535/C537538 \|C05.660.551/C537538 \|C16.131.621.551/C537538
Synonyms:	Klippel-Feil syndrome with laryngeal malformation
Slim Mappings:	Congenital abnormality\|Musculoskeletal disease
Reference:	MedGen: C537538 MeSH: C537538 OMIM: 148900; Genes:
Phenotypes
Disease Causing ClinVar Variants