MSeqDR Mitochondrial disease browser phenotype pathogenic gene and mutation portal

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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

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

Disease Browser
Parent Node: developmental anomaly of metabolic origin (MONDO:0015327)
Parent Node: DNA repair disease (MONDO:0021190)
Parent Node: inborn errors of metabolism (MONDO:0019052)
Parent Node: trichothiodystrophy (MONDO:0018053)
..Starting node ..photosensitive trichothiodystrophy ()
Child Nodes:
........trichothiodystrophy 1, photosensitive ()
........trichothiodystrophy 2, photosensitive ()
........trichothiodystrophy 3, photosensitive ()
Sister Nodes:
..nonphotosensitive trichothiodystrophy ()
..photosensitive trichothiodystrophy ()
MONDO is developed by the Monarch Initiative. Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM,ClinVar, CTD

Term ID:	2470
Name:	photosensitive trichothiodystrophy
Definition:	A trichothiodystrophy that is photosensitive, and caused by defects in the NER pathway
Alternative IDs:
ParentIDs:
TreeNumbers:
Synonyms:	IBIDS syndrome; Ichtyosis, brittle hair, intellectual impairment, decreased fertility, and short stature; sulfur-deficient brittle hair syndrome; Tay syndrome; trichothiodystrophy; trichothiodystrophy with congenital ichthyosis; trichothiodystrophy with congenital ichtyosis
Slim Mappings:
Reference:	MedGen: MeSH: OMIM: MSeqDR : Genes:
Phenotypes
Disease Causing ClinVar Variants
MSeqDR Portal