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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: Disorders of Sex Development (D012734)
Parent Node: Sex Chromosome Disorders (D025064)
..Starting node ..Sex Chromosome Disorders of Sex Development (D058533)
Child Nodes:
........Freemartinism (D005611)
........Gonadal Dysgenesis, Mixed (D006060)
........Klinefelter Syndrome (D007713)
........Male sterility due to Y-chromosome deletions (C536297)
........Triple X syndrome (C535318)
........Turner Syndrome (D014424) 2
Sister Nodes:
..47, XYY syndrome (C535317)
..49,XXXXX syndrome (C535319)
..Chromosome Xq duplication syndrome (C536732)
..Chromosome Xq28 Duplication Syndrome (C567580)
..Fragile X Syndrome (D005600) 3
..Orofaciodigital Syndromes (D009958) 14
..Sex Chromosome Disorders of Sex Development (D058533) 8
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM, CTD

Term ID:	10161
Name:	Sex Chromosome Disorders of Sex Development
Definition:	Congenital conditions of atypical sexual development associated with abnormal sex chromosome constitutions including MONOSOMY; TRISOMY; and MOSAICISM.
Alternative IDs:
ParentIDs:	MESH:D012734\|MESH:D025064
TreeNumbers:	C12.706.316.795 \|C13.351.875.253.795 \|C16.131.260.830.835 \|C16.131.939.316.795 \|C16.320.180.830.835 \|C19.391.119.795
Synonyms:	Chromosome DSD, Sex \|Chromosome DSDs, Sex \|DSD, Sex Chromosome \|DSDs, Sex Chromosome \|Sex Chromosome DSD \|Sex Chromosome DSDs
Slim Mappings:	Congenital abnormality\|Endocrine system disease\|Genetic disease (inborn)\|Urogenital disease (female)\|Urogenital disease (male)
Reference:	MedGen: D058533 MeSH: D058533 OMIM: Genes:
Phenotypes
Disease Causing ClinVar Variants