VarSome phenotype information and phenotype metadata list
Returns detailed phenotype or disease information when an identifier is provided, or a paginated list of phenotype metadata when no identifier or lookup query parameters are supplied.
GET /phenotype-information/30010000000002/
{
"genes": {
"all": [
"AAAS",
"CYP11A1",
"CYP11B1",
"CYP17A1",
"CYP21A2",
"GMPPA",
"HSD3B2",
"MC2R",
"MRAP",
"NNT",
"NR0B1",
"POR",
"STAR",
"TRAPPC11",
"TXNRD2"
]
},
"alternative_names": [
"Adrenal Cortical Hypofunction",
"Adrenal Cortical Insufficiency",
"Adrenal Gland Insufficiency",
"Adrenal Insufficiency",
"Adrenocortical Insufficiency",
"Corticoadrenal Insufficiency",
"Hypocortisolemia",
"Hypocortisolism"
],
"sub_tree": {
"Premature Ovarian Failure 7": {
"Secondary Adrenal Insufficiency": null,
"Primary Adrenal Insufficiency": {
"Acute Adrenal Insufficiency": {
"Bilateral Massive Adrenal Hemorrhage": null,
"Wolfram Syndrome": null
},
"Chronic Primary Adrenal Insufficiency": {
"Inherited Isolated Adrenal Insufficiency due to Partial CYP11A1 Deficiency": null,
"Alternating Hemiplegia of Childhood": {
"Adrenal Hypoplasia, Cytomegalic Type": null
},
"Triple-a Syndrome": null,
"Congenital Adrenal Hyperplasia": {
"Congenital Adrenal Hyperplasia due to Cytochrome P450 Oxidoreductase Deficiency": null,
"Classic Congenital Adrenal Hyperplasia": null,
"Congenital Adrenal Hyperplasia due to 3-Beta-Hydroxysteroid Dehydrogenase Deficiency": null,
"Congenital Lipoid Adrenal Hyperplasia due to Star Deficency": {
"Non-Classic Congenital Lipoid Adrenal Hyperplasia due to Star Deficency": null,
"Classic Congenital Lipoid Adrenal Hyperplasia due to Star Deficency": null
},
"Non-Classic Congenital Adrenal Hyperplasia": null,
"Congenital Adrenal Hyperplasia due to 17-Alpha-Hydroxylase Deficiency": null,
"Congenital Adrenal Hyperplasia due to 11-Beta-Hydroxylase Deficiency": null,
"Classic Congenital Adrenal Hyperplasia due to 21-Hydroxylase Deficiency": {
"Classic Congenital Adrenal Hyperplasia due to 21-Hydroxylase Deficiency, Salt Wasting Form": null,
"Classic Congenital Adrenal Hyperplasia due to 21-Hydroxylase Deficiency, Simple Virilizing Form": null
}
},
"Familial Adrenal Hypoplasia with Absent Pituitary Luteinizing Hormone": null,
"Adrenocortical Hypofunction, Chronic Primary Congenital": null,
"Familial Glucocorticoid Deficiency": {
"Adrenocortical Unresponsiveness to Acth with Postreceptor Defect": null,
"Glucocorticoid Deficiency 5": null,
"Glucocorticoid Deficiency 4": null,
"Glucocorticoid Deficiency 1": null,
"Glucocorticoid Deficiency 3": null,
"Glucocorticoid Deficiency 2": null
},
"Autoimmune Primary Adrenal Insufficiency": null
}
}
}
},
"id": 30010000000002,
"name": "Premature Ovarian Failure 7"
}