MSeqDR Mitochondrial disease browser phenotype pathogenic gene and mutation 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

*:HP: HPO terms, ND: NAMDC terms.
Most Studied CPEO, Complex I Deficiency, COXPD1, Leigh, LHON, MELAS, MERRF, NARP, SANDO

Disease Browser
Parent Node: inborn disorder of purine metabolism (MONDO:0019236)
Parent Node: inherited retinal dystrophy (MONDO:0019118)
Parent Node: syndromic neurometabolic disease with X-linked intellectual disability (MONDO:0015920)
..Starting node ..X-linked intellectual disability-limb spasticity-retinal dystrophy-diabetes insipidus syndrome ()
Child Nodes:
Sister Nodes:
..Brunner syndrome ()
..creatine transporter deficiency ()
..Danon disease ()
..glycerol kinase deficiency, infantile form ()
..glycogen storage disease due to phosphoglycerate kinase 1 deficiency ()
..HSD10 disease () L: 00526;
..hyperekplexia-epilepsy syndrome ()
..hypoxanthine-guanine phosphoribosyltransferase deficiency ()
..Menkes disease ()
..mitochondrial complex I deficiency () L: 00011;
..mucopolysaccharidosis type 2 ()
..oculocerebrorenal syndrome ()
..ornithine carbamoyltransferase deficiency ()
..phosphoribosylpyrophosphate synthetase superactivity ()
..pyruvate dehydrogenase deficiency ()
..X-linked cerebral adrenoleukodystrophy ()
..X-linked congenital disorder of glycosylation with intellectual disability as a major feature ()
..X-linked intellectual disability-limb spasticity-retinal dystrophy-diabetes insipidus syndrome ()
MONDO is developed by the Monarch Initiative. Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM,ClinVar, CTD

Term ID:	18495
Name:	X-linked intellectual disability-limb spasticity-retinal dystrophy-diabetes insipidus syndrome
Definition:	#945;-fetoprotein and intrauterine growth restriction is observed in routine pregnancy examination.
Alternative IDs:
ParentIDs:
TreeNumbers:
Synonyms:
Slim Mappings:
Reference:	MedGen: MeSH: OMIM: MSeqDR : Genes:
Phenotypes
Disease Causing ClinVar Variants
MSeqDR Portal