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: Athetosis (D001264)
Parent Node: Paresis (D010291)
..Starting node ..Hhhh Syndrome (C564411)
Child Nodes:
Sister Nodes:
..Encephalopathy, Spastic Tetraparesis, and Hypogonadism (C565722)
..Hhhh Syndrome (C564411)
..Paraparesis (D020335) 7
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM, CTD

Term ID:

5169

Name:

Hhhh Syndrome

Definition:

Alternative IDs:

ParentIDs:

MESH:D001264|MESH:D010291

TreeNumbers:

C10.597.350.110/C564411 |C10.597.636/C564411 |C23.888.592.350.110/C564411 |C23.888.592.643/C564411

Synonyms:

Hereditary Hemihypotrophy Hemiparesis Hemiathetosis Syndrome

Slim Mappings:

Nervous system disease|Signs and symptoms

Reference:

MedGen: C564411
MeSH: C564411
OMIM: 306960;

Genes:

Phenotypes

1	HP:0001419	X-linked recessive inheritance
2	HP:0000924	Abnormality of the skeletal system
3	HP:0100556	Hemiatrophy
4	HP:0001269	Hemiparesis
5	HP:0001250	Seizure

Disease Causing ClinVar Variants