{
    "disease_id": "DOID:0050811",
    "recommended_name": {
        "id": "DOID:0050811",
        "resource": "Disease Ontology",
        "url": "https://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 androgyny manifestations resulting from steroidogenic enzyme deficiency."
    },
    "synonyms": [
        {
            "id": "DOID:0050811",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0050811",
            "name": "adrenal hyperplasia 1",
            "description": ""
        },
        {
            "id": "DOID:0050811",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0050811",
            "name": "congenital lipoid adrenal hyperplasia",
            "description": ""
        },
        {
            "id": "DOID:0050811",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0050811",
            "name": "lipoid CAH",
            "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) characterized by severe adrenal insufficiency and sex reversal in males."
        },
        {
            "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 adrenal hyperplasia",
            "description": ""
        },
        {
            "id": "MONDO:0008725",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008725",
            "name": "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 congenital adrenal hyperplasia",
            "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) 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": "3-beta HSD deficiency",
            "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": "3b-hydroxysteroid dehydrogenase deficiency",
            "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": "adrenal hyperplasia II",
            "description": ""
        },
        {
            "id": "MONDO:0008727",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008727",
            "name": "type II 3-beta-hydroxysteroid dehydrogenase 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": "The most common form of congenital adrenal hyperplasia (CAH), 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-OHD",
            "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": "classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency",
            "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": "CYP21 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 due to 21-hydroxylase deficiency",
            "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) characterized by glucocorticoid deficiency, hyperandrogenism, hypertension and virilization in females."
        },
        {
            "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": "CYP11B1 deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0008729",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008729",
            "name": "adrenal hyperplasia, congenital, due to 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": "adrenal hyperplasia hypertensive form",
            "description": ""
        },
        {
            "id": "MONDO:0008730",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008730",
            "name": "congenital adrenal hyperplasia due to 17-alpha-hydroxylase deficiency",
            "description": "A very rare form of congenital adrenal hyperplasia (CAH) characterized by glucocorticoid deficiency, hypergonadotrophic hypogonadism and severe hypokalemic hypertension."
        },
        {
            "id": "MONDO:0008730",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008730",
            "name": "17-alpha-hydroxylase/17,20-lyase deficiency",
            "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": "combined 17-hydroxylase/17,20-lyase deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0008730",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008730",
            "name": "congenital adrenal hyperplasia type 5",
            "description": ""
        },
        {
            "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"
        },
        {
            "id": "MIM:201910",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/201910",
            "name": "Adrenal hyperplasia 3",
            "description": "Adrenal hyperplasia 3"
        },
        {
            "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"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0050811"
    ],
    "unlinked_id_list": []
}