{ "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 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"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", 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"glygen_name": "Yeast", "reference_species": "Saccharomyces cerevisiae S288C [559292]" } ], "protein_names": [ { "name": "Cytochrome P450-DIT2", "type": "recommended" }, { "name": "1.14.14.-", "type": "synonym" }, { "name": "Cytochrome P450 56", "type": "synonym" }, { "name": "putative cytochrome P450", "type": "synonym" } ], "gene_names": [ { "name": "DIT2", "type": "recommended" }, { "name": "CYP56", "type": "synonym" }, { "name": "D9509.20", "type": "synonym" }, { "name": "DIT2", "type": "synonym" } ], "record_id": "P21595-1", "evidence": [ { "id": "0050811", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050811" } ] }, { "uniprot_canonical_ac": "P07267-1", "uniprot_ac": "P07267", "uniprot_id": "CARP_YEAST", "refseq_ac": "NP_015171", "glycoprotein": "yes", "species": [ { "name": "Saccharomyces cerevisiae S288C", "taxid": 559292, "common_name": "Baker's yeast", "glygen_name": "Yeast", "reference_species": "Saccharomyces cerevisiae S288C [559292]" } ], 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11-beta-hydroxylase", "type": "synonym" } ], "gene_names": [ { "name": "Cyp11b3", "type": "recommended" }, { "name": "Cyp11b-3", "type": "synonym" } ], "record_id": "P30100-1", "evidence": [ { "id": "0050811", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050811" } ] }, { "uniprot_canonical_ac": "P15393-1", "uniprot_ac": "P15393", "uniprot_id": "C11B1_RAT", "refseq_ac": "", "glycoprotein": "no", "species": [ { "name": "Rattus norvegicus", "taxid": 10116, "common_name": "Rat", "glygen_name": "Rat", "reference_species": "Rattus norvegicus [10116]" } ], "protein_names": [ { "name": "Cytochrome P450 11B1, mitochondrial", "type": "recommended" }, { "name": "1.14.15.4", "type": "synonym" }, { "name": "CYPXIB1", "type": "synonym" }, { "name": "Cytochrome P450(11 beta)-DS", "type": "synonym" }, { "name": "Cytochrome P450C11", "type": "synonym" }, { "name": "Steroid 11-beta-hydroxylase, CYP11B1", "type": "synonym" } ], "gene_names": [ { "name": "Cyp11b1", "type": 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"Aldosterone synthase", "type": "synonym" }, { "name": "Aldosterone-synthesizing enzyme", "type": "synonym" }, { "name": "CYPXIB2", "type": "synonym" }, { "name": "Corticosterone 18-monooxygenase, CYP11B2", "type": "synonym" }, { "name": "Cytochrome P-450Aldo", "type": "synonym" }, { "name": "Cytochrome P-450C18", "type": "synonym" }, { "name": "Cytochrome P450(11beta,aldo)", "type": "synonym" }, { "name": "Cytochrome P450-Aldo-1", "type": "synonym" }, { "name": "P450(11beta,aldo)", "type": "synonym" }, { "name": "Steroid 11-beta-hydroxylase, CYP11B2", "type": "synonym" }, { "name": "Steroid 18-hydroxylase", "type": "synonym" } ], "gene_names": [ { "name": "Cyp11b2", "type": "recommended" }, { "name": "Cyp11b-2", "type": "synonym" } ], "record_id": "P30099-1", "evidence": [ { "id": "0050811", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050811" } ] }, { "uniprot_canonical_ac": "P00388-1", "uniprot_ac": "P00388", "uniprot_id": "NCPR_RAT", "refseq_ac": "NP_113764", "glycoprotein": "no", "species": [ { "name": "Rattus norvegicus", "taxid": 10116, "common_name": "Rat", "glygen_name": "Rat", "reference_species": "Rattus norvegicus [10116]" } ], "protein_names": [ { "name": "NADPH--cytochrome P450 reductase", "type": "recommended" }, { "name": "1.6.2.4", "type": "synonym" }, { "name": "CPR", "type": "synonym" }, { "name": "NADPH--cytochrome P450 reductase", "type": "synonym" }, { "name": "P450 (cytochrome) oxidoreductase", "type": "synonym" }, { "name": "P450R", "type": "synonym" }, { "name": "cytochrome P450 reductase", "type": "synonym" } ], "gene_names": [ { "name": "Por", "type": "recommended" }, { "name": "CYPOR", "type": "synonym" }, { "name": "POR", "type": "synonym" }, { "name": "Por", "type": "synonym" } ], "record_id": "P00388-1", "evidence": [ { "id": "0050811", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050811" } ] }, { "uniprot_canonical_ac": "P97826-1", "uniprot_ac": "P97826", "uniprot_id": 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"uniprot_canonical_ac": "P80020-1", "uniprot_ac": "P80020", "uniprot_id": "FABP6_RAT", "refseq_ac": "NP_058794", "glycoprotein": "no", "species": [ { "name": "Rattus norvegicus", "taxid": 10116, "common_name": "Rat", "glygen_name": "Rat", "reference_species": "Rattus norvegicus [10116]" } ], "protein_names": [ { "name": "Gastrotropin", "type": "recommended" }, { "name": "14 kDa bile acid-binding protein", "type": "synonym" }, { "name": "Fatty acid binding protein 6 (bile acid-binding protein)", "type": "synonym" }, { "name": "Fatty acid-binding protein 6", "type": "synonym" }, { "name": "GT", "type": "synonym" }, { "name": "I-15P", "type": "synonym" }, { "name": "I-BABP", "type": "synonym" }, { "name": "ILBP", "type": "synonym" }, { "name": "Ileal lipid-binding protein", "type": "synonym" }, { "name": "Intestinal 15 kDa protein", "type": "synonym" }, { "name": "fatty acid binding protein 6, ileal", "type": "synonym" }, { "name": "gastrotropin", "type": "synonym" }, { "name": "ileal lipid-binding protein", "type": "synonym" }, { "name": "intestinal 15 kDa protein", "type": "synonym" }, { "name": "strain SHR/OlaIpcv fatty acid binding protein 6 (Fabp6) pseudogene", "type": "synonym" } ], "gene_names": [ { "name": "Fabp6", "type": "recommended" }, { "name": "Fabp6", "type": "synonym" }, { "name": "IBABP", "type": "synonym" }, { "name": "Ilbp", "type": "synonym" }, { "name": "Illbp", "type": "synonym" } ], "record_id": "P80020-1", "evidence": [ { "id": "0050811", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050811" } ] }, { "uniprot_canonical_ac": "P02693-1", "uniprot_ac": "P02693", "uniprot_id": "FABPI_RAT", "refseq_ac": "NP_037200", "glycoprotein": "no", "species": [ { "name": "Rattus norvegicus", "taxid": 10116, "common_name": "Rat", "glygen_name": "Rat", "reference_species": "Rattus norvegicus [10116]" } ], "protein_names": [ { "name": "Fatty acid-binding protein, intestinal", "type": "recommended" }, { "name": "FABPI", "type": "synonym" }, { "name": "Fatty acid-binding protein 2", "type": "synonym" }, { "name": "I-FABP", "type": "synonym" }, { "name": "Intestinal-type fatty acid-binding protein", "type": "synonym" }, { "name": "fatty acid binding protein 1", "type": "synonym" }, { "name": "fatty acid binding protein 2, intestinal", "type": "synonym" }, { "name": "fatty acid-binding protein, intestinal", "type": "synonym" }, { "name": "intestinal fatty acid binding protein", "type": "synonym" }, { "name": "intestinal-type fatty acid-binding protein", "type": "synonym" } ], "gene_names": [ { "name": "Fabp2", "type": "recommended" }, { "name": "FABP", "type": "synonym" }, { "name": "Fabp2", "type": "synonym" }, { "name": "Fabpi", "type": "synonym" } ], "record_id": "P02693-1", "evidence": [ { "id": "0050811", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050811" } ] }, { "uniprot_canonical_ac": "O35870-1", "uniprot_ac": "O35870", "uniprot_id": "FANCC_RAT", "refseq_ac": "", "glycoprotein": "no", "species": [ { "name": "Rattus norvegicus", "taxid": 10116, "common_name": "Rat", "glygen_name": "Rat", "reference_species": "Rattus norvegicus [10116]" } ], "protein_names": [ { "name": "Fanconi anemia group C protein homolog", "type": "recommended" }, { "name": "Protein FACC", "type": "synonym" } ], "gene_names": [ { "name": "Fancc", "type": "recommended" }, { "name": "Facc", "type": "synonym" } ], "record_id": "O35870-1", "evidence": [ { "id": "0050811", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050811" } ] }, { "uniprot_canonical_ac": "P02692-1", "uniprot_ac": "P02692", "uniprot_id": "FABPL_RAT", "refseq_ac": "NP_036688", "glycoprotein": "no", "species": [ { "name": "Rattus norvegicus", "taxid": 10116, "common_name": "Rat", "glygen_name": "Rat", "reference_species": "Rattus norvegicus [10116]" } ], "protein_names": [ { "name": "Fatty acid-binding protein, liver", "type": "recommended" }, { "name": "Fatty acid-binding protein 1", 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"https://www.alliancegenome.org/disease/DOID:0050811" } ] }, { "uniprot_canonical_ac": "Q9VRM7-1", "uniprot_ac": "Q9VRM7", "uniprot_id": "CP307_DROME", "refseq_ac": "NP_001286943", "glycoprotein": "no", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "protein_names": [ { "name": "Cytochrome P450 307a1", "type": "recommended" }, { "name": "1.14.-.-", "type": "synonym" }, { "name": "CG10594-PC", "type": "synonym" }, { "name": "CYPCCCVIIA1", "type": "synonym" }, { "name": "Protein spook", "type": "synonym" }, { "name": "spo-PC", "type": "synonym" }, { "name": "spook, isoform C", "type": "synonym" }, { "name": "spook", "type": "synonym" } ], "gene_names": [ { "name": "spo", "type": "recommended" }, { "name": "307a1", "type": "synonym" }, { "name": "CG10594", "type": "synonym" }, { "name": "CYP307A1-Dm", "type": "synonym" }, { "name": "CYP307A1", "type": "synonym" }, { "name": "Cyp307a1", "type": "synonym" }, { "name": "Dmel\\CG10594", "type": "synonym" }, { "name": "Dmspo", "type": "synonym" }, { "name": "Spo", "type": "synonym" }, { "name": "spo", "type": "synonym" } ], "record_id": "Q9VRM7-1", "evidence": [ { "id": "0050811", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050811" } ] }, { "uniprot_canonical_ac": "Q27597-1", "uniprot_ac": "Q27597", "uniprot_id": "NCPR_DROME", "refseq_ac": "NP_001260128", "glycoprotein": "no", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "protein_names": [ { "name": "NADPH--cytochrome P450 reductase", "type": "recommended" }, { "name": "1.6.2.4", "type": "synonym" }, { "name": "CG11567-PC", "type": "synonym" }, { "name": "CPR", "type": "synonym" }, { "name": "Cpr-PC", "type": "synonym" }, { "name": "NADPH--ferrihemoprotein reductase", "type": "synonym" }, { "name": "NADPH-cytochrome P450 oxidoreductase", "type": "synonym" }, { "name": "NADPH-cytochrome P450 reductase", "type": "synonym" }, { "name": "P450R", "type": "synonym" }, { "name": "cytochrome P450 reductase, isoform C", "type": "synonym" }, { "name": "cytochrome c reductase (NADPH)", "type": "synonym" } ], "gene_names": [ { "name": "Cpr", "type": "recommended" }, { "name": "CCR", "type": "synonym" }, { "name": "CG11567", "type": "synonym" }, { "name": "CPR", "type": "synonym" }, { "name": "Cpr", "type": "synonym" }, { "name": "DMR", "type": "synonym" }, { "name": "DmCPR", "type": "synonym" }, { "name": "Dmel\\CG11567", "type": "synonym" }, { "name": "Dmel_CG11567", "type": "synonym" }, { "name": "NCPR", "type": "synonym" }, { "name": "P450", "type": "synonym" }, { "name": "cpr", "type": "synonym" } ], "record_id": "Q27597-1", "evidence": [ { "id": "0050811", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050811" } ] }, { 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"https://www.alliancegenome.org/disease/DOID:0050811" } ] }, { "uniprot_canonical_ac": "Q9VQ13-1", "uniprot_ac": "Q9VQ13", "uniprot_id": "Q9VQ13_DROME", "refseq_ac": "NP_001259870", "glycoprotein": "no", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "protein_names": [ { "name": "Peptidase A1 domain-containing protein", "type": "recommended" }, { "name": "CG31926-PB", "type": "synonym" }, { "name": "aspartic-type endopeptidase", "type": "synonym" }, { "name": "uncharacterized protein, isoform B", "type": "synonym" } ], "gene_names": [ { "name": "Dmel\\CG31926", "type": "recommended" }, { "name": "CG10872", "type": "synonym" }, { "name": "CG31926", "type": "synonym" }, { "name": "Dmel\\CG31926", "type": "synonym" }, { "name": "Dmel_CG31926", "type": "synonym" } ], "record_id": "Q9VQ13-1", "evidence": [ { "id": "0050811", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050811" } ] }, { "uniprot_canonical_ac": "Q9VQ11-1", "uniprot_ac": "Q9VQ11", "uniprot_id": "Q9VQ11_DROME", "refseq_ac": "NP_001259869", "glycoprotein": "no", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "protein_names": [ { "name": "Peptidase A1 domain-containing protein", "type": "recommended" }, { "name": "CG31928-PB", "type": "synonym" }, { "name": "lysosomal aspartic protease", "type": "synonym" }, { "name": "uncharacterized protein, isoform B", "type": "synonym" } ], "gene_names": [ { "name": "Dmel\\CG31928", "type": "recommended" }, { "name": "CG10872", "type": "synonym" }, { "name": "CG31928", "type": "synonym" }, { "name": "Dmel\\CG31928", "type": "synonym" }, { "name": "Dmel_CG31928", "type": "synonym" } ], "record_id": "Q9VQ11-1", "evidence": [ { "id": "0050811", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050811" } ] }, { "uniprot_canonical_ac": "Q9Y6M4-1", "uniprot_ac": "Q9Y6M4", "uniprot_id": "KC1G3_HUMAN", "refseq_ac": "NP_001026982", "glycoprotein": "no", "species": [ { "name": "Homo sapiens", "taxid": 9606, "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "protein_names": [ { "name": "Casein kinase I isoform gamma-3", "type": "recommended" }, { "name": "2.7.11.1", "type": "synonym" }, { "name": "CKI-gamma 3", "type": "synonym" }, { "name": "casein kinase I isoform gamma-3 isoform 2", "type": "synonym" } ], "gene_names": [ { "name": "CSNK1G3", "type": "recommended" }, { "name": "CKI-gamma 3", "type": "synonym" }, { "name": "CSNK1G3L", "type": "synonym" }, { "name": "CSNK1G3", "type": "synonym" } ], "record_id": "Q9Y6M4-1", "evidence": [ { "id": "0050811", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050811" } ] }, { "uniprot_canonical_ac": "P49674-1", "uniprot_ac": "P49674", "uniprot_id": "KC1E_HUMAN", "refseq_ac": "NP_001885", "glycoprotein": "yes", "species": [ { "name": "Homo sapiens", "taxid": 9606, "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "protein_names": [ { "name": "Casein kinase I isoform epsilon", "type": "recommended" }, { "name": "2.7.11.1", "type": "synonym" }, { "name": "CKI-epsilon", "type": "synonym" }, { "name": "CKIe", "type": "synonym" }, { "name": "casein kinase I isoform epsilon", "type": "synonym" } ], "gene_names": [ { "name": "CSNK1E", "type": "recommended" }, { "name": "CKIepsilon", "type": "synonym" }, { "name": "CKIe", "type": "synonym" }, { "name": "CSNK1E", "type": "synonym" }, { "name": "HCKIE", "type": "synonym" } ], "record_id": "P49674-1", "evidence": [ { "id": "0050811", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050811" } ] }, { "uniprot_canonical_ac": "Q9HCP0-1", "uniprot_ac": "Q9HCP0", "uniprot_id": "KC1G1_HUMAN", "refseq_ac": 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"Homo sapiens [9606]" } ], "protein_names": [ { "name": "Flavin-containing monooxygenase 2", "type": "recommended" }, { "name": "1.14.13.-", "type": "synonym" }, { "name": "Dimethylaniline oxidase 2", "type": "synonym" }, { "name": "FMO 1B1", "type": "synonym" }, { "name": "FMO 2", "type": "synonym" }, { "name": "FMO, pulmonary", "type": "synonym" }, { "name": "Pulmonary flavin-containing monooxygenase 2", "type": "synonym" }, { "name": "dimethylaniline monooxygenase [N-oxide-forming] 2", "type": "synonym" }, { "name": "dimethylaniline oxidase 2", "type": "synonym" }, { "name": "flavin containing monooxygenase 2 (non-functional)", "type": "synonym" }, { "name": "flavin-containing monooxygenase 2 isoform a", "type": "synonym" }, { "name": "pulmonary flavin-containing monooxygenase 2", "type": "synonym" } ], "gene_names": [ { "name": "FMO2", "type": "recommended" }, { "name": "FMO1B1", "type": "synonym" }, { "name": "FMO2", "type": "synonym" } ], "record_id": "Q99518-1", "evidence": [ { "id": "0050811", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050811" } ] }, { "uniprot_canonical_ac": "Q92506-1", "uniprot_ac": "Q92506", "uniprot_id": "DHB8_HUMAN", "refseq_ac": "NP_055049", "glycoprotein": "yes", "species": [ { "name": "Homo sapiens", "taxid": 9606, "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "protein_names": [ { "name": "(3R)-3-hydroxyacyl-CoA dehydrogenase", "type": "recommended" }, { "name": "(3R)-3-hydroxyacyl-CoA dehydrogenase", "type": "synonym" }, { "name": "1.1.1.239", "type": "synonym" }, { "name": "1.1.1.62", "type": "synonym" }, { "name": "1.1.1.n12", "type": "synonym" }, { "name": "17-beta-HSD 8", "type": "synonym" }, { "name": "17-beta-hydroxysteroid dehydrogenase 8", "type": "synonym" }, { "name": "3-ketoacyl-[acyl-carrier-protein] reductase alpha subunit", "type": "synonym" }, { "name": "3-oxoacyl-[acyl-carrier-protein] reductase", "type": "synonym" }, { "name": "Estradiol 17-beta-dehydrogenase 8", "type": "synonym" }, { "name": "HSD17B8", "type": "synonym" }, { "name": "KAR alpha subunit", "type": "synonym" }, { "name": "Ke6", "type": "synonym" }, { "name": "Protein Ke6", "type": "synonym" }, { "name": "Short chain dehydrogenase/reductase family 30C member 1", "type": "synonym" }, { "name": "Testosterone 17-beta-dehydrogenase 8", "type": "synonym" }, { "name": "estradiol 17-beta-dehydrogenase 8", "type": "synonym" }, { "name": "estrogen 17-oxidoreductase", "type": "synonym" }, { "name": "ke-6", "type": "synonym" }, { "name": "protein Ke6", "type": "synonym" }, { "name": "really interesting new gene 2 protein", "type": "synonym" }, { "name": "short chain dehydrogenase/reductase family 30C member 1", "type": "synonym" }, { "name": "testosterone 17-beta-dehydrogenase 8", "type": "synonym" } ], "gene_names": [ { "name": "HSD17B8", "type": "recommended" }, { "name": "D6S2245E", "type": "synonym" }, { "name": "FABGL", "type": "synonym" }, { "name": "FABG", 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11-beta-hydroxylase), polypeptide 2", "type": "synonym" }, { "name": "mitochondrial cytochrome P450, family 11, subfamily B, polypeptide 2", "type": "synonym" }, { "name": "steroid 11-beta-hydroxylase, CYP11B2", "type": "synonym" }, { "name": "steroid 11-beta-monooxygenase", "type": "synonym" }, { "name": "steroid 11-beta/18-hydroxylase", "type": "synonym" }, { "name": "steroid 18-hydroxylase, aldosterone synthase, P450C18, P450aldo", "type": "synonym" } ], "gene_names": [ { "name": "CYP11B2", "type": "recommended" }, { "name": "ALDOS", "type": "synonym" }, { "name": "CPN2", "type": "synonym" }, { "name": "CYP11B2", "type": "synonym" }, { "name": "CYP11BL", "type": "synonym" }, { "name": "CYP11B", "type": "synonym" }, { "name": "CYPXIB2", "type": "synonym" }, { "name": "P-450C18", "type": "synonym" }, { "name": "P450C18", "type": "synonym" }, { "name": "P450aldo", "type": "synonym" } ], "record_id": "P19099-1", "evidence": [ { "id": "0050811", "database": "AGR", "url": 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"name": "cholesterol monooxygenase (side-chain cleaving)", "type": "synonym" }, { "name": "cholesterol side-chain cleavage enzyme, mitochondrial isoform a precursor", "type": "synonym" }, { "name": "cholesterol side-chain cleavage enzyme, mitochondrial", "type": "synonym" }, { "name": "cytochrome P450 11A1", "type": "synonym" }, { "name": "cytochrome P450 family 11 subfamily A polypeptide 1", "type": "synonym" }, { "name": "cytochrome P450(scc)", "type": "synonym" }, { "name": "cytochrome P450, subfamily XIA (cholesterol side chain cleavage)", "type": "synonym" }, { "name": "steroid 20-22-lyase", "type": "synonym" } ], "gene_names": [ { "name": "CYP11A1", "type": "recommended" }, { "name": "CYP11A1", "type": "synonym" }, { "name": "CYP11A", "type": "synonym" }, { "name": "CYPXIA1", "type": "synonym" }, { "name": "P450SCC", "type": "synonym" } ], "record_id": "P05108-1", "evidence": [ { "id": "0050811", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050811" } ] } ], "glycans": [], "biomarkers": [], "association_flag": "1000", "record_id": "doid.0050811" }