{ "id": 7151, "label": "adrenal gland disorder", "model": { "label": "Mondo Disease Ontology (MONDO)", "source": 0 }, "type_id": 0, "reference_id": "MONDO:0005495", "properties": { "xrefs": [ "DOID:9553", "EFO:0005539", "ICD9:255", "ICD9:255.8", "ICD9:255.9", "MEDGEN:892577", "MESH:D000307", "NCIT:C26690", "SCTID:30171000", "UMLS:C4021794" ], "synonyms": [ "adrenal gland disease", "adrenal gland disease or disorder", "adrenal gland diseases", "adrenal gland disorder", "adrenal gland disorders", "disease of adrenal gland", "disease or disorder of adrenal gland", "disorder of adrenal gland" ], "categories": [ { "ref": "MONDO:0005151", "name": "endocrine system disorder" } ], "definition": "A disease involving the adrenal gland." }, "isLeaf": false, "isRoot": false, "child_count": 18, "parents": [ { "id": 6875, "label": "endocrine system disorder", "isLeaf": false, "isRoot": false, "parents": [ 29379 ], "type_id": 0, "properties": { "xrefs": [ "DOID:28", "EFO:0001379", "ICD9:259.8", "ICD9:259.9", "MEDGEN:4043", "MESH:D004700", "NANDO:1100009", "NANDO:2100109", "NCIT:C3009", "SCTID:362969004", "UMLS:C0014130" ], "synonyms": [ "disease of endocrine system", "disease or disorder of endocrine system", "disorder of endocrine system", "endocrine disease", "endocrine disorder", "endocrine system disease", "endocrine system disease or disorder", "endocrine system disorder", "endocrinopathy", "thyroid or other glandular disorders" ], "categories": [ { "ref": "MONDO:0005151", "name": "endocrine system disorder" } ], "definition": "A disease involving the endocrine system." }, "child_count": 48, "reference_id": "MONDO:0005151" } ], "children": [ { "id": 3687, "label": "medulloadrenal hyperfunction", "isLeaf": true, "isRoot": false, "parents": [ 7151 ], "type_id": 0, "properties": { "xrefs": [ "DOID:12257", "ICD9:255.6", "MEDGEN:509543", "SCTID:111565003", "UMLS:C0154206" ], "categories": [ { "ref": "MONDO:0005151", "name": "endocrine system disorder" } ] }, "child_count": 0, "reference_id": "MONDO:0001473" }, { "id": 4842, "label": "adrenal cortex disorder", "isLeaf": false, "isRoot": false, "parents": [ 7151 ], "type_id": 0, "properties": { "xrefs": [ "DOID:3952", "MEDGEN:154", "MESH:D000303", "SCTID:129636003", "UMLS:C0001614" ], "synonyms": [ "adrenal cortex disease", "adrenal cortex disease or disorder", "disease of adrenal cortex", "disease or disorder of adrenal cortex", "disorder of adrenal cortex" ], "categories": [ { "ref": "MONDO:0005151", "name": "endocrine system disorder" } ], "definition": "A disease involving the adrenal cortex." }, "child_count": 3, "reference_id": "MONDO:0002816" }, { "id": 7655, "label": "adrenal medullary hyperplasia", "isLeaf": true, "isRoot": false, "parents": [ 6775, 7151 ], "type_id": 0, "properties": { "xrefs": [ "EFO:1000076", "GARD:0027350", "MEDGEN:231356", "NCIT:C35838", "Orphanet:688649", "UMLS:C1332177" ], "synonyms": [ "adrenal medulla hyperplasia" ], "categories": [ { "ref": "MONDO:0005151", "name": "endocrine system disorder" } ], "definition": "A hyperplasia that involves the adrenal medulla." }, "child_count": 0, "reference_id": "MONDO:0006077" }, { "id": 8345, "label": "pituitary dwarfism", "isLeaf": false, "isRoot": false, "parents": [ 7151 ], "type_id": 0, "properties": { "xrefs": [ "EFO:1001109", "ICD9:253.3", "MEDGEN:8506", "MESH:D004393", "MedDRA:10035083", "SCTID:367460001", "UMLS:C0013338" ], "categories": [ { "ref": "MONDO:0005151", "name": "endocrine system disorder" } ], "definition": "Proportionately decreased bodily growth due to failure of the pituitary gland to produce an adequate supply of growth hormone." }, "child_count": 2, "reference_id": "MONDO:0006909" }, { "id": 9519, "label": "pseudoleprechaunism syndrome, Patterson type", "isLeaf": true, "isRoot": false, "parents": [ 7151 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0004259", "MEDGEN:358350", "MESH:C536310", "OMIM:169170", "Orphanet:2976", "UMLS:C1868546" ], "synonyms": [ "Patterson syndrome", "Patterson pseudoleprechaunism syndrome", "Patterson's leprechaunoid syndrome" ], "categories": [ { "ref": "MONDO:0005151", "name": "endocrine system disorder" } ], "definition": "Pseudoleprechaunism syndrome, Patterson type is a rare, genetic, adrenal disorder characterized by congenital bronzed hyperpigmentation, cutis laxa of the hands and feet, body disproportion (comprising large hands, feet, nose and ears), hirsutism and severe intellectual disability. Patients additionally present hyperadrenocorticism, cushingoid features, premature adrenarche and diabetes mellitus, as well as skeletal deformities (not present at birth and which progress with age). There have been no further descriptions in the literature since 1981." }, "child_count": 0, "reference_id": "MONDO:0008211" }, { "id": 10277, "label": "apparent mineralocorticoid excess", "isLeaf": true, "isRoot": false, "parents": [ 7151, 7177, 16607 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0090121", "DOID:4367", "GARD:0000433", "ICD9:255.3", "MEDGEN:90983", "MESH:C537422", "MESH:D043204", "NANDO:2100130", "NANDO:2200362", "NCIT:C123231", "NCIT:C131083", "OMIM:218030", "Orphanet:320", "SCTID:237770005", "SCTID:703256004", "UMLS:C0342488", "icd11.foundation:1737310323" ], "synonyms": [ "11 Beta-hydroxysteroid dehydrogenase type 2 deficiency", "11-beta-hydroxysteroid dehydrogenase deficiency type 2", "APE", "Ulick syndrome", "apparent mineralocorticoid excess", "apparent mineralocorticoid excess syndrome", "cortisol 11-beta-ketoreductase deficiency", "syndrome of apparent mineralocorticoid Excess", "AME", "AME 1", "Ame1", "apparent mineralocorticoid EXCESS", "cortisol 11-Beta-ketoreductase deficiency" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" }, { "ref": "MONDO:0005151", "name": "endocrine system disorder" } ], "definition": "Apparent mineralocorticoid excess (AME) is a rare form of pseudohyperaldosteronism characterized by very early-onset and severe hypertension, associated with low renin levels and hypoaldosteronism." }, "child_count": 0, "reference_id": "MONDO:0009025" }, { "id": 10642, "label": "autoimmune polyendocrine syndrome type 1", "isLeaf": true, "isRoot": false, "parents": [ 7151, 16764, 17602, 18365 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0050167", "GARD:0008466", "ICD9:258.8", "MEDGEN:39125", "NANDO:2200346", "NANDO:2200738", "NCIT:C129727", "NORD:798", "OMIM:240300", "Orphanet:3453", "SCTID:11244009", "UMLS:C0085859" ], "synonyms": [ "AIRE autoimmune polyendocrinopathy", "APECED syndrome", "APS type 1", "APS1", "Autoimmune Polyglandular Syndrome Type 1", "MEDAC syndrome", "Whitaker syndrom", "aire autoimmune polyendocrinopathy", "autoimmune hypoparathyroidism-chronic candidiasis-Addison disease syndrome", "autoimmune polyendocrine syndrome type 1", "autoimmune polyendocrinopathy caused by mutation in AIRE", "autoimmune polyendocrinopathy caused by mutation in aire", "autoimmune polyendocrinopathy syndrome , type I, with or without reversible metaphyseal dysplasia", "autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy", "autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy syndrome", "autoimmune polyglandular syndrome type 1", "ham syndrome", "hypoparathyroidism-Addison disease-mucocutaneous candidiasis syndrome", "multiple endocrine deficiency-Addison disease-candidiasis syndrome", "polyglandular autoimmune syndrome type 1", "APS 1", "PGA 1", "Whitaker syndrome", "autoimmune polyendocrine syndrome, type I, with or without reversible metaphyseal dysplasia", "autoimmune polyendocrinopathy syndrome type 1", "autoimmune polyendocrinopathy syndrome, type I, autosomal dominant", "autoimmune polyendocrinopathy type 1", "autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy (APECED)", "autoimmune polyglandular syndrome, type 1", "hypoadrenocorticism with hypoparathyroidism and superficial Moniliasis", "polyglandular autoimmune syndrome, type 1", "polyglandular deficiency syndrome, Persian-Jewish type" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" }, { "ref": "MONDO:0005046", "name": "immune system disorder" }, { "ref": "MONDO:0005151", "name": "endocrine system disorder" } ], "definition": "Autoimmune polyendocrinopathy type 1, or APECED syndrome, is a genetic disease that manifests in childhood or early adolescence with a combination of chronic mucocutaneous candidiasis, hypoparathyroidism and autoimmune adrenal failure." }, "child_count": 0, "reference_id": "MONDO:0009411" }, { "id": 11461, "label": "adrenomyodystrophy", "isLeaf": true, "isRoot": false, "parents": [ 7151 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0000562", "MEDGEN:337494", "MESH:C538051", "OMIM:300270", "Orphanet:977", "SCTID:763311001", "UMLS:C1846044", "icd11.foundation:46666832" ], "synonyms": [ "adrenomyodystrophy" ], "categories": [ { "ref": "MONDO:0005151", "name": "endocrine system disorder" } ], "definition": "Adrenomyodystrophy is an extremely rare genetic endocrine disease characterized by primary adrenal insufficiency, dystrophic myopathy, hepatic steatosis, severe psychomotor delay, megalocornea, failure to thrive, chronic constipation, and terminal bladder ectasia which can lead to death. There have been no further descriptions in the literature since 1982." }, "child_count": 0, "reference_id": "MONDO:0010288" }, { "id": 13715, "label": "corticosteroid-binding globulin deficiency", "isLeaf": true, "isRoot": false, "parents": [ 5714, 7151 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0090030", "GARD:0013101", "MEDGEN:343831", "OMIM:611489", "Orphanet:199247", "UMLS:C1852529" ], "synonyms": [ "CBG deficiency", "Transcortin deficiency", "corticosteroid-binding globulin deficiency", "transcortin deficiency", "Cbg deficiency", "corticosteroid-binding globulin, elevated" ], "categories": [ { "ref": "MONDO:0005151", "name": "endocrine system disorder" } ], "definition": "Corticosteroid-binding globulin deficiency is a genetic disorder characterized by extreme tiredness (fatigue), particularly after physical exertion, and low blood pressure (hypotension). Corticosteroid-binding globulin (CBG) is a protein primarily produced in the liver that attaches to cortisol, a hormone with numerous functions, including maintaining blood sugar levels, protecting the body from stress, and suppressing inflammation.When cortisol is needed in the body, CBG delivers the cortisol where it is needed and releases it. Signs and symptoms of CBG deficiency vary. While some individuals may experience no symptoms, others are found to have a fatty liver and chronic pain. Some people with CBG deficiency also have chronic fatigue syndrome. CGB deficiency is caused by mutations in the SERPINA6 gene. The SERPINA6 gene is commonly also referred to as the CBG gene. Both autosomal dominant and autosomal recessive inheritance have been reported.While there is still no cure, treatment options will depend on the type and severity of symptoms present and may involve several specialists." }, "child_count": 0, "reference_id": "MONDO:0012675" }, { "id": 14432, "label": "Congenital adrenal insufficiency with 46, XY sex reversal OR 46,XY disorder of sex development-adrenal insufficiency due to CYP11A1 deficiency", "isLeaf": true, "isRoot": false, "parents": [ 5714, 7151, 19710 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0050546", "GARD:0017033", "MEDGEN:462405", "MESH:C566130", "NCIT:C131422", "OMIM:613743", "Orphanet:168558", "UMLS:C3151055" ], "synonyms": [ "XY sex reversal-adrenal failure", "XY sex reversal-adrenal failure syndrome", "adrenal insufficiency, congenital, with 46,XY SEX reversal, partial or complete", "adrenal insufficiency, congenital, with 46XY sex reversal, partial or complete", "cholesterol side-chain cleavage deficiency", "p450scc deficiency", "46,XY disorder of sex development-adrenal insufficiency due to CYP11A1 deficiency", "46,XY disorder of sex development-adrenal insufficiency due to CYP11A1 deficiency syndrome" ], "categories": [ { "ref": "MONDO:0005039", "name": "reproductive system disorder" }, { "ref": "MONDO:0005151", "name": "endocrine system disorder" } ], "definition": "A rare, genetic, developmental defect during embryogenesis disorder characterized by severe, early-onset, salt-wasting adrenal insufficiency and ambiguous/female external genitalia (irrespective of chromosomal sex) due to mutations in the CYP11A1 gene. Milder cases may present delayed onset of adrenal gland dysfunction and genitalia phenotype may range from normal male to female in individuals with 46,XY karyotype. Imaging studies reveal hypoplastic/absent adrenal glands and biochemical findings include low serum cortisol, mineralocorticoids, androgens, and sodium, with elevated potassium levels." }, "child_count": 0, "reference_id": "MONDO:0013400" }, { "id": 16604, "label": "adrenogenital syndrome", "isLeaf": false, "isRoot": false, "parents": [ 7151, 23508 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0020226", "ICD9:255.2", "MEDGEN:86215", "MESH:D047808", "MedDRA:10061630", "Orphanet:181412", "SCTID:267395000", "UMLS:C0302280", "icd11.foundation:131153029" ], "synonyms": [ "adrenogenital disorder", "adrenogenital syndrome", "androgenital syndrome", "congenital adrenal hyperplasia" ], "categories": [ { "ref": "MONDO:0005151", "name": "endocrine system disorder" } ], "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." }, "child_count": 8, "reference_id": "MONDO:0015898" }, { "id": 16605, "label": "hypoaldosteronism disease", "isLeaf": false, "isRoot": false, "parents": [ 7151 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0020228", "MEDGEN:208996", "MESH:D006994", "NANDO:2100132", "Orphanet:181419", "SCTID:60086000", "UMLS:C0857899" ], "synonyms": [ "rare hypoaldosteronism", "hypoaldosteronism" ], "categories": [ { "ref": "MONDO:0005151", "name": "endocrine system disorder" } ] }, "child_count": 1, "reference_id": "MONDO:0015900" }, { "id": 16641, "label": "primary pigmented nodular adrenocortical disease", "isLeaf": false, "isRoot": false, "parents": [ 5714, 7151 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0060280", "GARD:0010906", "MEDGEN:930501", "NCIT:C131196", "OMIMPS:610489", "Orphanet:189439", "SCTID:719274008", "UMLS:C4304832", "icd11.foundation:2003695246" ], "synonyms": [ "PPNAD", "pigmented nodular adrenocortical disease", "pigmented nodular adrenocortical disease, primary", "primary pigmented nodular adrenal dysplasia" ], "categories": [ { "ref": "MONDO:0005151", "name": "endocrine system disorder" } ], "definition": "A form of bilateral adrenocortical hyperplasia that is often associated with adrenocorticotrophin hormone (ACTH) independent Cushing syndrome and is characterized by small to normal sized adrenal glands containing multiple small cortical pigmented nodules (less than 1 cm in diameter)." }, "child_count": 10, "reference_id": "MONDO:0015999" }, { "id": 18561, "label": "adrenoleukodystrophy", "isLeaf": false, "isRoot": false, "parents": [ 2902, 7151, 16360, 18952, 24100 ], "type_id": 0, "properties": { "xrefs": [ "DOID:10588", "GARD:0005758", "MEDGEN:57667", "MESH:D000326", "MedDRA:10051260", "NANDO:1200165", "NANDO:2200576", "NCIT:C61252", "NORD:736", "OMIM:300100", "Orphanet:43", "UMLS:C0162309", "icd11.foundation:1085655586" ], "synonyms": [ "ABCD1 deficiency", "ALD", "Bronze-Schilder disease", "Siemerling-Creutzfeldt disease", "X-ALD", "X-Linked Adrenoleukodystrophy", "X-linked ALD", "X-linked adrenoleukodystrophy", "adrenoleukodystrophy", "adrenoleukodystrophy, X-linked", "adrenoleukodystrophy, X-linked recessive", "adrenomyeloneuropathy, adult", "adrenomyeloneuropathy, adult, X-linked recessive", "diffuse cerebral sclerosis of Schilder", "diffuse sclerosis" ], "categories": [ { "ref": "MONDO:0005071", "name": "nervous system disorder" }, { "ref": "MONDO:0005151", "name": "endocrine system disorder" } ], "definition": "A peroxisomal disorder resulting in cerebral demyelination, axonal dysfunction in the spinal cord leading to spastic paraplegia, adrenal insufficiency and in some cases testicular insufficiency." }, "child_count": 15, "reference_id": "MONDO:0018544" }, { "id": 20437, "label": "adrenal gland neoplasm", "isLeaf": false, "isRoot": false, "parents": [ 4223, 7151 ], "type_id": 0, "properties": { "xrefs": [ "EFO:0003850", "GARD:0019765", "MEDGEN:1352", "NCIT:C2859", "ONCOTREE:ADRENAL_GLAND", "Orphanet:100091", "UMLS:C0001624" ], "synonyms": [ "adrenal gland neoplasm (disease)", "adrenal gland tumor", "adrenal gland tumour", "adrenal neoplasm", "adrenal neoplasms", "adrenal tumor", "adrenal tumour", "neoplasm of adrenal gland", "neoplasm of the adrenal gland", "tumor of adrenal gland", "tumor of the adrenal gland", "tumour of adrenal gland", "tumour of the adrenal gland", "ADRENAL_GLAND", "adrenal/paraganglial tumor", "adrenal/paraganglial tumour" ], "categories": [ { "ref": "MONDO:0005151", "name": "endocrine system disorder" } ], "definition": "A neoplasm (disease) that involves the adrenal gland." }, "child_count": 16, "reference_id": "MONDO:0021227" }, { "id": 23215, "label": "ectopic ACTH secretion syndrome", "isLeaf": true, "isRoot": false, "parents": [ 7151, 20301 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0025861", "ICD10CM:E24.3", "MEDGEN:103", "MESH:D000182", "NANDO:2200351", "NCIT:C4387", "SCTID:626004", "UMLS:C0001231" ], "synonyms": [ "ectopic ACTH secretion", "ectopic ACTH secretion syndrome", "ectopic ACTH syndrome", "hypercortisolism due to nonpituitary tumor", "hypercortisolism due to nonpituitary tumour", "ACTH syndromes, ectopic", "ectopic ACTH secretion causing Cushing's syndrome", "ectopic ACTH syndromes", "syndrome, ectopic ACTH", "syndromes, ectopic ACTH" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" }, { "ref": "MONDO:0005151", "name": "endocrine system disorder" } ], "definition": "A syndrome characterized by abnormal secretion of adrenocorticotrophic hormone in conjunction with neoplastic growth occurring anywhere in the body. The most common associations are tumors of the bronchus (oat cell or carcinoid), thymic tumors (epithelial or carcinoid), and pancreatic endocrine tumor. (DeVita et al. Cancer, p 1364. 4th edition. Lippincott)" }, "child_count": 0, "reference_id": "MONDO:0043472" }, { "id": 25672, "label": "endogenous Cushing syndrome", "isLeaf": false, "isRoot": false, "parents": [ 7151, 18839 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0026827", "MEDGEN:1727013", "Orphanet:641613", "UMLS:C5419158" ], "synonyms": [ "endogenous CS" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" }, { "ref": "MONDO:0005151", "name": "endocrine system disorder" } ], "definition": "Any Cushing syndrome caused by body's prolonged overproduction of cortisol that can be dependent on or independent of adrenocorticotropic hormone (ACTH)." }, "child_count": 4, "reference_id": "MONDO:0957431" }, { "id": 25903, "label": "isolated micronodular adrenocortical disease", "isLeaf": true, "isRoot": false, "parents": [ 7151 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0026992", "MEDGEN:1853162", "Orphanet:647782", "UMLS:C5816756" ], "categories": [ { "ref": "MONDO:0005151", "name": "endocrine system disorder" } ] }, "child_count": 0, "reference_id": "MONDO:0958263" } ], "roots": [ { "id": 6875, "label": "endocrine system disorder" } ] }