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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 ..Adrenogenital Syndrome (D047808)
Child Nodes:
........Adrenal Hyperplasia, Congenital (D000312) 12
........Hyperandrogenism (D017588) 3
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:	334
Name:	Adrenogenital Syndrome
Definition:	Abnormal SEX DIFFERENTIATION or congenital DISORDERS OF SEX DEVELOPMENT caused by abnormal levels of steroid hormones expressed by the GONADS or the ADRENAL GLANDS, such as in CONGENITAL ADRENAL HYPERPLASIA and ADRENAL CORTEX NEOPLASMS. Due to abnormal steroid biosynthesis, clinical features include VIRILISM in females; FEMINIZATION in males; or precocious sexual development in children.
Alternative IDs:
ParentIDs:	MESH:D012734
TreeNumbers:	C12.706.316.129 \|C13.351.875.253.129 \|C16.131.939.316.129 \|C19.391.119.129
Synonyms:	Adrenogenital Syndromes \|Syndrome, Adrenogenital \|Syndromes, Adrenogenital
Slim Mappings:	Congenital abnormality\|Endocrine system disease\|Urogenital disease (female)\|Urogenital disease (male)
Reference:	MedGen: D047808 MeSH: D047808 OMIM: Genes:
Phenotypes
Disease Causing ClinVar Variants