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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)
..Starting node ..46, XX Disorders of Sex Development (D058489)
Child Nodes:
........46, XX Testicular Disorders of Sex Development (D058531) 3
........46,XX SEX REVERSAL WITH DYSGENESIS OF KIDNEYS, ADRENALS, AND LUNGS (OMIM:611812)
........Aromatase deficiency (C537436)
........Cortisone reductase deficiency (C536447)
........Familial gynecomastia, due to increased aromatase activity (C000591739)
........Gonadal Dysgenesis, 46,XX (D023961) 8
........Hyperandrogenism (D017588) 3
........Michels Caskey syndrome (C537576)
........Mullerian aplasia (C537371) 1
........Pseudohermaphroditism, Female, with Skeletal Anomalies (C564869)
Sister Nodes:
..46, XX Disorders of Sex Development (D058489) 25
..46, XY Disorders of Sex Development (D058490) 48
..Adrenogenital Syndrome (D047808) 17
..Campomelic Dysplasia with Autosomal Sex Reversal (C564282)
..Gonadal Dysgenesis (D006059) 37
..Meacham Syndrome (C563821)
..Ovotesticular Disorders of Sex Development (D050090) 3
..Sex Chromosome Disorders of Sex Development (D058533) 8
..Verloes Gillerot Fryns syndrome (C536539)
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM, CTD

Term ID:	26
Name:	46, XX Disorders of Sex Development
Definition:	Congenital conditions in individuals with a female karyotype, in which the development of the gonadal or anatomical sex is atypical.
Alternative IDs:
ParentIDs:	MESH:D012734
TreeNumbers:	C12.706.316.064 \|C13.351.875.253.064 \|C16.131.939.316.064 \|C19.391.119.064 \|F03.800.399.500
Synonyms:	46,XX Disorders of Sex Development \|46, XX DSD \|46,XX DSD \|Female Pseudohermaphroditism \|Female Pseudohermaphroditisms \|Pseudohermaphroditism, Female \|Pseudohermaphroditisms, Female
Slim Mappings:	Congenital abnormality\|Endocrine system disease\|Mental disorder\|Urogenital disease (female)\|Urogenital disease (male)
Reference:	MedGen: D058489 MeSH: D058489 OMIM: Genes:
Phenotypes
Disease Causing ClinVar Variants