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: chromosomal anomaly with cataract (MONDO:0020226)
Parent Node: female infertility due to gonadal dysgenesis (MONDO:0018402)
Parent Node: genetic infertility (MONDO:0017143)
Parent Node: gonadal dysgenesis (MONDO:0001967)
Parent Node: inherited primary ovarian failure (MONDO:0019852)
Parent Node: Moyamoya syndrome (MONDO:0018792)
Parent Node: sex chromosome disorder of sex development (MONDO:0017975)
Parent Node: syndrome with disorder of sex development of gynecological interest (MONDO:0017978)
Parent Node: syndromic epicanthus (MONDO:0020165)
Parent Node: syndromic urogenital tract malformation (MONDO:0015620)
Parent Node: X chromosome number anomaly with female phenotype (MONDO:0017000)
..Starting node ..Turner syndrome ()
Child Nodes:
........mixed gonadal dysgenesis ()
........monosomy X ()
........mosaic monosomy X ()
........Turner syndrome due to structural X chromosome anomalies ()
Sister Nodes:
..polysomy of X chromosome ()
..Turner syndrome ()
MONDO is developed by the Monarch Initiative. Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM,ClinVar, CTD

Term ID:	19499
Name:	Turner syndrome
Definition:	Turner syndrome is a chromosomal disorder associated with the complete or partial absence of an X chromosome.
Alternative IDs:
ParentIDs:
TreeNumbers:
Synonyms:	45, X syndrome; 45,X gonadal dysgenesis; 45,X syndrome; 45,X/46,XX syndrome; 45,X0 syndrome; 45X syndrome; Bonnevie-Ullrich syndrome; Bonnevie-Ulrich syndrome; chromosome X monosomy X; genital dwarfism; genital dwarfism, Turner type; gonadal dysgenesis; gonadal dysgenesis (45,X); gonadal dysgenesis
Slim Mappings:
Reference:	MedGen: MeSH: OMIM: MSeqDR : Genes:
Phenotypes
Disease Causing ClinVar Variants
MSeqDR Portal