{
    "disease_id": "DOID:0050811",
    "recommended_name": {
        "id": "DOID:0050811",
        "resource": "Disease Ontology",
        "url": "http://disease-ontology.org/term/DOID:0050811",
        "name": "congenital adrenal hyperplasia",
        "description": "A steroid inherited metabolic disorder that is characterized by adrenal insufficiency and variable degrees of hyper or hypo androgeny manifestations resulting from steroidogenic enzyme deficiency."
    },
    "synonyms": [
        {
            "id": "DOID:0050811",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0050811",
            "name": "adrenal hyperplasia 1",
            "description": ""
        },
        {
            "id": "DOID:0050811",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0050811",
            "name": "congenital lipoid adrenal hyperplasia",
            "description": ""
        },
        {
            "id": "DOID:0050811",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0050811",
            "name": "lipoid CAH",
            "description": ""
        },
        {
            "id": "MONDO:0008729",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008729",
            "name": "congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency",
            "description": "Congenital adrenal hyperplasia due to 11 beta-hydroxylase (CYP11B1) deficiency is a rare form of congenital adrenal hyperplasia (CAH; see this term) characterized by glucocorticoid deficiency, hyperandrogenism, hypertension and virilization in females."
        },
        {
            "id": "MONDO:0008729",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008729",
            "name": "adrenal hyperplasia hypertensive form",
            "description": ""
        },
        {
            "id": "MONDO:0008729",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008729",
            "name": "CYP11B1 deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0008729",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008729",
            "name": "adrenal hyperplasia, congenital, due to steroid 11-BETA-HYDROXYLASE deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0008729",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008729",
            "name": "adrenal hyperplasia 4",
            "description": ""
        },
        {
            "id": "MONDO:0008729",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008729",
            "name": "P450C11B1 deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0008729",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008729",
            "name": "adrenal hyperplasia, hypertensive form",
            "description": ""
        },
        {
            "id": "MONDO:0008729",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008729",
            "name": "steroid 11-Beta-Hydroxylase deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0008729",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008729",
            "name": "adrenal hyperplasia IV",
            "description": ""
        },
        {
            "id": "MONDO:0008729",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008729",
            "name": "CAH due to 11-beta-hydroxylase deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0008729",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008729",
            "name": "11-Beta-Hydroxylase deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0008730",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008730",
            "name": "congenital adrenal hyperplasia due to 17-alpha-hydroxylase deficiency",
            "description": "Congenital adrenal hyperplasia due to 17-alpha-hydroxylase deficiency is a very rare form of congenital adrenal hyperplasia (CAH; see this term) characterized by glucocorticoid deficiency, hypergonadotrophic hypogonadism and severe hypokalemic hypertension."
        },
        {
            "id": "MONDO:0008730",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008730",
            "name": "adrenal hyperplasia 5",
            "description": ""
        },
        {
            "id": "MONDO:0008730",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008730",
            "name": "17,20-lyase deficiency, isolated",
            "description": ""
        },
        {
            "id": "MONDO:0008730",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008730",
            "name": "17-Alpha-Hydroxylase deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0008730",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008730",
            "name": "17-Alpha-Hydroxylase/17,20-lyase deficiency, combined complete",
            "description": ""
        },
        {
            "id": "MONDO:0008730",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008730",
            "name": "CAH due to 17-alpha-hydroxylase deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0008730",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008730",
            "name": "17-Alpha-Hydroxylase/17,20-lyase deficiency, combined partial",
            "description": ""
        },
        {
            "id": "MONDO:0008730",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008730",
            "name": "congenital adrenal hyperplasia type 5",
            "description": ""
        },
        {
            "id": "MONDO:0008730",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008730",
            "name": "combined 17-hydroxylase/17,20-lyase deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0008730",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008730",
            "name": "adrenal hyperplasia, congenital, due to 17-ALPHA-HYDROXYLASE deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0008728",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008728",
            "name": "classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency",
            "description": "Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency (classic 21-OHD CAH) is the most common form of congenital adrenal hyperplasia (CAH; see this term), characterized by simple virilizing or salt wasting forms that can manifest with genital ambiguity in females and with adrenal insufficiency (in both sexes), and that presents with dehydration, hypoglycemia in the neonatal period (that can be lethal if untreated), and hyperandrogenia."
        },
        {
            "id": "MONDO:0008728",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008728",
            "name": "21 hydroxylase deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0008728",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008728",
            "name": "adrenal hyperplasia 3",
            "description": ""
        },
        {
            "id": "MONDO:0008728",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008728",
            "name": "adrenal hyperplasia, congenital, due to 21-HYDROXYLASE deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0008728",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008728",
            "name": "21-OHD",
            "description": ""
        },
        {
            "id": "MONDO:0008728",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008728",
            "name": "congenital adrenal hyperplasia due to 21-hydroxylase deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0008728",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008728",
            "name": "hyperandrogenism, Nonclassic type, due to 21-Hydroxylase deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0008728",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008728",
            "name": "CYP21 deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0008728",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008728",
            "name": "classic 21-OHD CAH",
            "description": ""
        },
        {
            "id": "MONDO:0008728",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008728",
            "name": "21-hydroxylase deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0008728",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008728",
            "name": "adrenal hyperplasia, congenital, due to 21-hydroxylase deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0008728",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008728",
            "name": "congenital adrenal hyperplasia 1",
            "description": ""
        },
        {
            "id": "MONDO:0008725",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008725",
            "name": "congenital lipoid adrenal hyperplasia due to STAR deficency",
            "description": "Congenital lipoid adrenal hyperplasia (CLAH) is one of the most severe forms of congenital adrenal hyperplasia (CAH; see this term) characterized by severe adrenal insufficiency and sex reversal in males."
        },
        {
            "id": "MONDO:0008725",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008725",
            "name": "adrenal hyperplasia 1",
            "description": ""
        },
        {
            "id": "MONDO:0008725",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008725",
            "name": "lipoid congenital adrenal hyperplasia; LCAH",
            "description": ""
        },
        {
            "id": "MONDO:0008725",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008725",
            "name": "congenital adrenal hyperplasia lipoid",
            "description": ""
        },
        {
            "id": "MONDO:0008725",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008725",
            "name": "lipoid hyperplasia, congenital, of adrenal cortex with Male pseudohermaphroditism",
            "description": ""
        },
        {
            "id": "MONDO:0008725",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008725",
            "name": "CLAH",
            "description": ""
        },
        {
            "id": "MONDO:0008725",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008725",
            "name": "lipoid congenital adrenal hyperplasia",
            "description": ""
        },
        {
            "id": "MONDO:0008725",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008725",
            "name": "LCAH",
            "description": ""
        },
        {
            "id": "MONDO:0008727",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008727",
            "name": "congenital adrenal hyperplasia due to 3-beta-hydroxysteroid dehydrogenase deficiency",
            "description": "Congenital adrenal hyperplasia due to 3-beta-hydroxysteroid dehydrogenase deficiency is a very rare form of congenital adrenal hyperplasia (CAH; see this term) encompassing salt-wasting and non-salt wasting forms with a wide variety of symptoms, including glucocorticoid deficiency and male undervirilization manifesting as a micropenis to severe perineoscrotal hypospadias."
        },
        {
            "id": "MONDO:0008727",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008727",
            "name": "type II 3-beta-hydroxysteroid dehydrogenase deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0008727",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008727",
            "name": "3-BETA-hydroxysteroid dehydrogenase, type II, deficiency OF",
            "description": ""
        },
        {
            "id": "MONDO:0008727",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008727",
            "name": "CAH due to 3-beta-hydroxysteroid dehydrogenase deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0008727",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008727",
            "name": "adrenal hyperplasia 2",
            "description": ""
        },
        {
            "id": "MONDO:0008727",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008727",
            "name": "HSD3B deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0008727",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008727",
            "name": "3b-hydroxysteroid dehydrogenase deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0008727",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008727",
            "name": "3-Beta-HSD deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0008727",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008727",
            "name": "adrenal hyperplasia II",
            "description": ""
        },
        {
            "id": "MONDO:0008727",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008727",
            "name": "adrenal hyperplasia, congenital, due to 3-BETA-hydroxysteroid dehydrogenase 2 deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0008727",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008727",
            "name": "adrenal hyperplasia, congenital, due to 3-Beta-hydroxysteroid dehydrogenase 2 deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0008727",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008727",
            "name": "3-beta HSD deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0008727",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008727",
            "name": "3-Beta-hydroxysteroid dehydrogenase deficiency",
            "description": ""
        },
        {
            "id": "MIM:202010",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/202010",
            "name": "Adrenal hyperplasia 4",
            "description": "Adrenal hyperplasia 4"
        },
        {
            "id": "MIM:202110",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/202110",
            "name": "Adrenal hyperplasia 5",
            "description": "Adrenal hyperplasia 5"
        },
        {
            "id": "MIM:201910",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/201910",
            "name": "Adrenal hyperplasia 3",
            "description": "Adrenal hyperplasia 3"
        },
        {
            "id": "MIM:201710",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/201710",
            "name": "Adrenal hyperplasia 1",
            "description": "Adrenal hyperplasia 1"
        },
        {
            "id": "MIM:201810",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/201810",
            "name": "Adrenal hyperplasia 2",
            "description": "Adrenal hyperplasia 2"
        }
    ]
}