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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

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Disease Browser
Parent Node: Adrenal Gland Diseases (D000307)
Parent Node: Adrenogenital Syndrome (D047808)
Parent Node: Genetic Diseases, Inborn (D030342)
Parent Node: Steroid Metabolism, Inborn Errors (D043202)
..Starting node ..Adrenal Hyperplasia, Congenital (D000312)
Child Nodes:
........17,20-Lyase Deficiency, Isolated (C567076)
........3b-Hydroxysteroid Dehydrogenase Deficiency (C579862)
........Adrenal hyperplasia 2 (C538236)
........Adrenal hyperplasia, congenital, type 5 (C538237)
........ADRENAL HYPOPLASIA, CONGENITAL (OMIM:300200)
........Adrenal Hypoplasia, Congenital, with Precocious Puberty (C564568)
........Congenital adrenal hyperplasia due to 11-Beta-hydroxylase deficiency (C535978)
........Congenital adrenal hyperplasia due to 21 hydroxylase deficiency (C535979)
........Late-onset congenital adrenal hyperplasia (C537877)
........Lipoid congenital adrenal hyperplasia (C537027)
........Mineralocorticoid Deficiency, Isolated (C567596)
........X-linked adrenal hypoplasia congenita (C536757)
Sister Nodes:
..17-Hydroxysteroid Dehydrogenase Deficiency (C537805) 1
..Adrenal Hyperplasia, Congenital (D000312) 12
..Antley-Bixler Syndrome Phenotype (D054882) 2
..Bile acid synthesis defect, congenital, 1 (C535442)
..Bile acid synthesis defect, congenital, 2 (C535443)
..Bile Acid Synthesis Defect, Congenital, 3 (C566340)
..Cortisone reductase deficiency (C536447)
..Familial Glucocorticoid Deficiency 1 (C565974)
..Hypercholanemia, Familial (C564336)
..Ichthyosis, X-Linked (D016114) 2
..Lathosterolosis (C537880)
..Lyngstadaas syndrome (C537490)
..Mineralocorticoid Excess Syndrome, Apparent (D043204) 1
..Pseudovaginal Perineoscrotal Hypospadias (C535830)
..Smith-Lemli-Opitz Syndrome (D019082) 1
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM, CTD

Term ID:	316
Name:	Adrenal Hyperplasia, Congenital
Definition:	A group of inherited disorders of the ADRENAL GLANDS, caused by enzyme defects in the synthesis of cortisol (HYDROCORTISONE) and/or ALDOSTERONE leading to accumulation of precursors for ANDROGENS. Depending on the hormone imbalance, congenital adrenal hyperplasia can be classified as salt-wasting, hypertensive, virilizing, or feminizing. Defects in STEROID 21-HYDROXYLASE; STEROID 11-BETA-HYDROXYLASE; STEROID 17-ALPHA-HYDROXYLASE; 3-beta-hydroxysteroid dehydrogenase (3-HYDROXYSTEROID DEHYDROGENASES); TESTOSTERONE 5-ALPHA-REDUCTASE; or steroidogenic acute regulatory protein; among others, underlie these disorders.
Alternative IDs:
ParentIDs:	MESH:D000307\|MESH:D030342\|MESH:D043202\|MESH:D047808
TreeNumbers:	C12.706.316.129.500 \|C13.351.875.253.129.500 \|C16.131.939.316.129.500 \|C16.320.033 \|C16.320.565.925.249 \|C18.452.648.925.249 \|C19.053.440 \|C19.391.119.129.500
Synonyms:	Adrenal Hyperplasias, Congenital \|Congenital Adrenal Hyperplasia \|Congenital Adrenal Hyperplasias \|Hyperplasia, Congenital Adrenal \|Hyperplasias, Congenital Adrenal
Slim Mappings:	Congenital abnormality\|Endocrine system disease\|Genetic disease (inborn)\|Metabolic disease\|Urogenital disease (female)\|Urogenital disease (male)
Reference:	MedGen: D000312 MeSH: D000312 OMIM: Genes:
Phenotypes
Disease Causing ClinVar Variants