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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: Cerebral Palsy (D002547)
..Starting node ..Cerebral Palsy, Spastic Quadriplegic, 2 (C567867)
Child Nodes:
Sister Nodes:
..Cerebral Palsy, Ataxic, Autosomal Recessive (C562856)
..Cerebral Palsy, Spastic Quadriplegic, 1 (C567853)
..Cerebral Palsy, Spastic Quadriplegic, 2 (C567867)
..Cerebral palsy, spastic, diplegic (C537945)
..Dysmyelination With Jaundice (C565610)
..Epilepsy, Photogenic, with Spastic Diplegia and Mental Retardation (C565587)
..Neuhauser syndrome (C536143)
..Paine syndrome (C538101)
..Renpenning syndrome 1 (C537761)
..Spastic Paraplegia-50, Autosomal Recessive (C567858)
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM, CTD

Term ID:

1951

Name:

Cerebral Palsy, Spastic Quadriplegic, 2

Definition:

Alternative IDs:

OMIM:612900

ParentIDs:

MESH:D002547

TreeNumbers:

C10.228.140.140.254/C567867

Synonyms:

CPSQ2

Slim Mappings:

Nervous system disease

Reference:

MedGen: C567867
MeSH: C567867
OMIM: 612900;

Genes: KANK1;

Phenotypes

1	HP:0012275	Autosomal dominant inheritance with maternal imprinting
2	HP:0002059	Cerebral atrophy
3	HP:0100021	Cerebral palsy
4	HP:0001252	Hypotonia
5	HP:0001249	Intellectual disability
6	HP:0002510	Spastic tetraplegia
7	HP:0002119	Ventriculomegaly

Disease Causing ClinVar Variants