{
    "disease_id": "DOID:0070215",
    "recommended_name": {
        "id": "DOID:0070215",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0070215",
        "name": "familial hyperinsulinemic hypoglycemia 4",
        "description": "A hyperinsulinemic hypoglycemia characterized by autosomal recessive inheritance of hyperinsulinemic hypoglycemia with seizures that has_material_basis_in mutation in the HADH gene on chromosome 4q25."
    },
    "synonyms": [
        {
            "id": "DOID:0070215",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070215",
            "name": "hyperinsulinism due to glutamodehydrogenase deficiency",
            "description": ""
        },
        {
            "id": "DOID:0070215",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070215",
            "name": "hyperinsulinemic hypoglycemia due to short chain 3-hydroxylacyl-CoA dehydrogenase deficiency",
            "description": ""
        },
        {
            "id": "DOID:0070215",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070215",
            "name": "HHF4",
            "description": ""
        },
        {
            "id": "DOID:0070215",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070215",
            "name": "hyperinsulinism due to SCHAD deficiency",
            "description": ""
        },
        {
            "id": "DOID:0070215",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070215",
            "name": "hyperinsulinism due to short chain 3-hydroxylacyl-CoA dehydrogenase deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0012382",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012382",
            "name": "hyperinsulinemic hypoglycemia, familial, 4",
            "description": "Any hyperinsulinemic hypoglycemia in which the cause of the disease is a mutation in the HADH gene."
        },
        {
            "id": "MONDO:0012382",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012382",
            "name": "HADH hyperinsulinemic hypoglycemia (disease)",
            "description": ""
        },
        {
            "id": "MONDO:0012382",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012382",
            "name": "hyperinsulinemic hypoglycemia (disease) caused by mutation in HADH",
            "description": ""
        },
        {
            "id": "MONDO:0012382",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012382",
            "name": "hyperinsulinemic hypoglycemia due to HADH deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0012382",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012382",
            "name": "hyperinsulinemic hypoglycemia due to short chain 3-hydroxylacyl-CoA dehydrogenase deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0012382",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012382",
            "name": "hyperinsulinemic hypoglycemia, familial, 4",
            "description": ""
        },
        {
            "id": "MONDO:0012382",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012382",
            "name": "hyperinsulinemic hypoglycemia, familial, type 4",
            "description": ""
        },
        {
            "id": "MONDO:0012382",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012382",
            "name": "hyperinsulinism due to SCHAD deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0012382",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012382",
            "name": "hyperinsulinism due to glutamodehydrogenase deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0012382",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012382",
            "name": "hyperinsulinism due to short chain 3-hydroxyacyl-coenzyme a dehydrogenase deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0012382",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012382",
            "name": "hyperinsulinism due to short chain 3-hydroxylacyl-CoA dehydrogenase deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0012382",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012382",
            "name": "3-Alpha-hydroxyacyl-Coenzyme A dehydrogenase deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0012382",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012382",
            "name": "3-alpha hydroxyacyl-CoA dehydrogenase deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0012382",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012382",
            "name": "3-hydroxyacyl-Coenzyme A dehydrogenase deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0012382",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012382",
            "name": "3-hydroxylacyl-CoA dehydrogenase deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0012382",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012382",
            "name": "HADH deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0012382",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012382",
            "name": "HADHSC deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0012382",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012382",
            "name": "HHF4",
            "description": ""
        },
        {
            "id": "MONDO:0012382",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012382",
            "name": "L-3-Alpha-hydroxyacyl-CoA dehydrogenase, short chain, deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0012382",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012382",
            "name": "M-SCHAD deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0012382",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012382",
            "name": "M/SCHAD",
            "description": ""
        },
        {
            "id": "MONDO:0012382",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012382",
            "name": "SCHAD deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0012382",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012382",
            "name": "had deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0012382",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012382",
            "name": "medium and short chain 3-hydroxyacyl-CoA dehydrogenase deficiency",
            "description": ""
        },
        {
            "id": "MIM:609975",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/609975",
            "name": "Hyperinsulinemic hypoglycemia, familial, 4",
            "description": "Hyperinsulinemic hypoglycemia, familial, 4"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0070215"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0070215",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070215",
            "categories": []
        },
        {
            "id": "MONDO:0012382",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012382",
            "categories": []
        },
        {
            "id": "MIM:609975",
            "database": "MIM",
            "url": "https://www.omim.org/entry/609975",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "Q61425-1",
            "uniprot_ac": "Q61425",
            "uniprot_id": "HCDH_MOUSE",
            "refseq_ac": "NP_032238",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Hydroxyacyl-coenzyme A dehydrogenase, mitochondrial",
                    "type": "recommended"
                },
                {
                    "name": "1.1.1.35",
                    "type": "synonym"
                },
                {
                    "name": "HCDH",
                    "type": "synonym"
                },
                {
                    "name": "L-3-hydroxyacyl-Coenzyme A dehydrogenase, short chain",
                    "type": "synonym"
                },
                {
                    "name": "Medium and short-chain L-3-hydroxyacyl-coenzyme A dehydrogenase",
                    "type": "synonym"
                },
                {
                    "name": "Short-chain 3-hydroxyacyl-CoA dehydrogenase",
                    "type": "synonym"
                },
                {
                    "name": "hydroxyacyl-coenzyme A dehydrogenase, mitochondrial precursor",
                    "type": "synonym"
                },
                {
                    "name": "hydroxyacyl-coenzyme A dehydrogenase, mitochondrial",
                    "type": "synonym"
                },
                {
                    "name": "hydroxylacyl-Coenzyme A dehydrogenase-dehydrogenase",
                    "type": "synonym"
                },
                {
                    "name": "medium and short chain L-3-hydroxyacyl-coenzyme A dehydrogenase",
                    "type": "synonym"
                },
                {
                    "name": "short-chain 3-hydroxyacyl-CoA dehydrogenase",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Hadh",
                    "type": "recommended"
                },
                {
                    "name": "HCDH",
                    "type": "synonym"
                },
                {
                    "name": "Hadhsc",
                    "type": "synonym"
                },
                {
                    "name": "Hadh",
                    "type": "synonym"
                },
                {
                    "name": "Mschad",
                    "type": "synonym"
                },
                {
                    "name": "Schad",
                    "type": "synonym"
                }
            ],
            "record_id": "Q61425-1",
            "evidence": [
                {
                    "id": "0070215",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070215"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q16836-1",
            "uniprot_ac": "Q16836",
            "uniprot_id": "HCDH_HUMAN",
            "refseq_ac": "NP_005318",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Hydroxyacyl-coenzyme A dehydrogenase, mitochondrial",
                    "type": "recommended"
                },
                {
                    "name": "1.1.1.35",
                    "type": "synonym"
                },
                {
                    "name": "HCDH",
                    "type": "synonym"
                },
                {
                    "name": "L-3-hydroxyacyl-Coenzyme A dehydrogenase, short chain",
                    "type": "synonym"
                },
                {
                    "name": "Medium and short-chain L-3-hydroxyacyl-coenzyme A dehydrogenase",
                    "type": "synonym"
                },
                {
                    "name": "Short-chain 3-hydroxyacyl-CoA dehydrogenase",
                    "type": "synonym"
                },
                {
                    "name": "hydroxyacyl-coenzyme A dehydrogenase, mitochondrial isoform 2 precursor",
                    "type": "synonym"
                },
                {
                    "name": "hydroxyacyl-coenzyme A dehydrogenase, mitochondrial",
                    "type": "synonym"
                },
                {
                    "name": "medium and short-chain L-3-hydroxyacyl-coenzyme A dehydrogenase",
                    "type": "synonym"
                },
                {
                    "name": "short-chain 3-hydroxyacyl-CoA dehydrogenase",
                    "type": "synonym"
                },
                {
                    "name": "testis secretory sperm-binding protein Li 203a",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "HADH",
                    "type": "recommended"
                },
                {
                    "name": "HAD1",
                    "type": "synonym"
                },
                {
                    "name": "HADH1",
                    "type": "synonym"
                },
                {
                    "name": "HADHSC",
                    "type": "synonym"
                },
                {
                    "name": "HADH",
                    "type": "synonym"
                },
                {
                    "name": "HAD",
                    "type": "synonym"
                },
                {
                    "name": "HCDH",
                    "type": "synonym"
                },
                {
                    "name": "HHF4",
                    "type": "synonym"
                },
                {
                    "name": "MSCHAD",
                    "type": "synonym"
                },
                {
                    "name": "SCHAD",
                    "type": "synonym"
                }
            ],
            "record_id": "Q16836-1",
            "evidence": [
                {
                    "id": "609975",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/609975"
                },
                {
                    "id": "0070215",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070215"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9WVK7-1",
            "uniprot_ac": "Q9WVK7",
            "uniprot_id": "HCDH_RAT",
            "refseq_ac": "NP_476534",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Hydroxyacyl-coenzyme A dehydrogenase, mitochondrial",
                    "type": "recommended"
                },
                {
                    "name": "1.1.1.35",
                    "type": "synonym"
                },
                {
                    "name": "HCDH",
                    "type": "synonym"
                },
                {
                    "name": "L-3-hydroxyacyl-Coenzyme A dehydrogenase, short chain",
                    "type": "synonym"
                },
                {
                    "name": "Medium and short-chain L-3-hydroxyacyl-coenzyme A dehydrogenase",
                    "type": "synonym"
                },
                {
                    "name": "NAD-dependent dehydrogenase",
                    "type": "synonym"
                },
                {
                    "name": "Short-chain 3-hydroxyacyl-CoA dehydrogenase",
                    "type": "synonym"
                },
                {
                    "name": "hydroxyacyl-coenzyme A dehydrogenase, mitochondrial precursor",
                    "type": "synonym"
                },
                {
                    "name": "hydroxyacyl-coenzyme A dehydrogenase, mitochondrial",
                    "type": "synonym"
                },
                {
                    "name": "hydroxylacyl-Coenzyme A dehydrogenase, short chain",
                    "type": "synonym"
                },
                {
                    "name": "medium and short-chain L-3-hydroxyacyl-coenzyme A dehydrogenase",
                    "type": "synonym"
                },
                {
                    "name": "monofunctional",
                    "type": "synonym"
                },
                {
                    "name": "short-chain 3-hydroxyacyl-CoA dehydrogenase",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Hadh",
                    "type": "recommended"
                },
                {
                    "name": "Hadhsc",
                    "type": "synonym"
                },
                {
                    "name": "Hadh",
                    "type": "synonym"
                },
                {
                    "name": "Had",
                    "type": "synonym"
                },
                {
                    "name": "Schad",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9WVK7-1",
            "evidence": [
                {
                    "id": "0070215",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070215"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0070215"
}