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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: Muscle Hypertonia (D009122)
..Starting node ..Muscular Hypertonia, Lethal (C564982)
Child Nodes:
Sister Nodes:
..Convulsive Disorder, Familial, with Prenatal or Early Onset (C565678)
..Muscle Rigidity (D009127) 3
..Muscle Spasticity (D009128) 17
..Muscular Hypertonia, Lethal (C564982)
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM, CTD

Term ID:

7565

Name:

Muscular Hypertonia, Lethal

Definition:

Alternative IDs:

ParentIDs:

MESH:D009122

TreeNumbers:

C10.597.613.550/C564982 |C23.888.592.608.550/C564982

Synonyms:

Slim Mappings:

Nervous system disease|Signs and symptoms

Reference:

MedGen: C564982
MeSH: C564982
OMIM: 254120;

Genes:

Phenotypes

1	HP:0000007	Autosomal recessive inheritance
2	HP:0001626	Abnormality of the cardiovascular system
3	HP:0001558	Decreased fetal movement
4	HP:0001276	Hypertonia
5	HP:0002375	Hypokinesia
6	HP:0002090	Pneumonia
7	HP:0001537	Umbilical hernia

Disease Causing ClinVar Variants