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: hyperpigmentation of the skin (MONDO:0019289)
Parent Node: malformation syndrome with hamartosis (MONDO:0020063)
Parent Node: neurocutaneous syndrome (MONDO:0042983)
Parent Node: rare disease with glaucoma as a major feature (MONDO:0020222)
..Starting node ..phakomatosis pigmentovascularis ()
Child Nodes:
........phakomatosis cesioflammea ()
........phakomatosis cesiomarmorata ()
........phakomatosis spilorosea ()
Sister Nodes:
..Alagille syndrome ()
..aniridia-cerebellar ataxia-intellectual disability syndrome ()
..Axenfeld-Rieger syndrome ()
..chromosome 6pter-p24 deletion syndrome ()
..classic homocystinuria ()
..dyssegmental dysplasia-glaucoma syndrome ()
..glaucoma-sleep apnea syndrome ()
..isolated Pierre-Robin syndrome ()
..Lowry-MacLean syndrome ()
..Marshall syndrome ()
..Meckel syndrome ()
..megalocornea-intellectual disability syndrome ()
..Melnick-Needles syndrome ()
..microphthalmia with linear skin defects syndrome ()
..mucopolysaccharidosis ()
..oculocerebrorenal syndrome ()
..oculofaciocardiodental syndrome ()
..Peters plus syndrome ()
..phakomatosis pigmentovascularis ()
..Rubinstein-Taybi syndrome ()
..SHORT syndrome ()
..Stickler syndrome ()
..Sturge-Weber syndrome ()
..von Hippel-Lindau disease ()
..WAGR syndrome ()
..Weill-Marchesani syndrome ()
MONDO is developed by the Monarch Initiative. Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM,ClinVar, CTD

Term ID:	17318
Name:	phakomatosis pigmentovascularis
Definition:
Alternative IDs:
ParentIDs:
TreeNumbers:
Synonyms:	association of cutaneous vascular malformations and different pigmentary disorders; Phacomatosis pigmentovascularis; phakomatosis pigmentovascularis; port-wine stain with oculocutaneous melanosis; PPv
Slim Mappings:
Reference:	MedGen: MeSH: OMIM: MSeqDR : Genes:
Phenotypes
Disease Causing ClinVar Variants
MSeqDR Portal