{
    "disease_id": "DOID:0080352",
    "recommended_name": {
        "id": "DOID:0080352",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0080352",
        "name": "X-linked chondrodysplasia punctata 2",
        "description": "A chondrodysplasia puncata that has_material_basis_in mutation in the gene encoding delta(8)-delta(7) sterol isomerase emopamil-binding protein on chromosome Xp11."
    },
    "synonyms": [
        {
            "id": "DOID:0080352",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0080352",
            "name": "Conradi-Hunermann Syndrome",
            "description": ""
        },
        {
            "id": "DOID:0080352",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0080352",
            "name": "Happle syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0020603",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0020603",
            "name": "X-linked chondrodysplasia punctata 2",
            "description": "A rare genodermatosis with great phenotypic variation and characterized most commonly by ichthyosis, chondrodysplasia punctata (CDP), asymmetric shortening of the limbs, cataracts and short stature."
        },
        {
            "id": "MONDO:0020603",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0020603",
            "name": "CDPX2",
            "description": ""
        },
        {
            "id": "MONDO:0020603",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0020603",
            "name": "CDPXD",
            "description": ""
        },
        {
            "id": "MONDO:0020603",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0020603",
            "name": "Conrad Hunermann Happle syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0020603",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0020603",
            "name": "Conradi Hunermann syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0020603",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0020603",
            "name": "Conradi Hnermann Syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0020603",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0020603",
            "name": "Conradi-Hunermann syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0020603",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0020603",
            "name": "Conradi-Hunermann-Happle syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0020603",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0020603",
            "name": "Conradi-Hnermann-Happle syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0020603",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0020603",
            "name": "EBP chondrodysplasia punctata",
            "description": ""
        },
        {
            "id": "MONDO:0020603",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0020603",
            "name": "Happle syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0020603",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0020603",
            "name": "X-linked chondrodysplasia punctata type 2",
            "description": ""
        },
        {
            "id": "MONDO:0020603",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0020603",
            "name": "chondrodysplasia punctata 2 X-linked dominant",
            "description": ""
        },
        {
            "id": "MONDO:0020603",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0020603",
            "name": "chondrodysplasia punctata 2, X-linked dominant",
            "description": ""
        },
        {
            "id": "MONDO:0020603",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0020603",
            "name": "chondrodysplasia punctata caused by mutation in EBP",
            "description": ""
        },
        {
            "id": "MONDO:0020603",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0020603",
            "name": "chondrodysplasia punctata, X-linked dominant, X-linked dominant",
            "description": ""
        },
        {
            "id": "MIM:302960",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/302960",
            "name": "Chondrodysplasia punctata 2, X-linked dominant",
            "description": "Chondrodysplasia punctata 2, X-linked dominant"
        }
    ],
    "children": [
        {
            "id": "DOID:0112106",
            "label": "chondrodysplasia with platyspondyly, distinctive brachydactyly, hydrocephaly, and microphthalmia",
            "link_status": true,
            "children": []
        }
    ],
    "id_list": [
        "DOID:0080352",
        "DOID:0112106"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0080352",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0080352",
            "categories": []
        },
        {
            "id": "MONDO:0020603",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0020603",
            "categories": []
        },
        {
            "id": "MIM:302960",
            "database": "MIM",
            "url": "https://www.omim.org/entry/302960",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "P70245-1",
            "uniprot_ac": "P70245",
            "uniprot_id": "EBP_MOUSE",
            "refseq_ac": "NP_031924",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "3-beta-hydroxysteroid-Delta(8),Delta(7)-isomerase",
                    "type": "recommended"
                },
                {
                    "name": "3-beta-hydroxysteroid-Delta(8), Delta(7)-isomerase",
                    "type": "synonym"
                },
                {
                    "name": "3.3.2.11",
                    "type": "synonym"
                },
                {
                    "name": "5.3.3.5",
                    "type": "synonym"
                },
                {
                    "name": "Cholestenol Delta-isomerase",
                    "type": "synonym"
                },
                {
                    "name": "Cholesterol-5,6-epoxide hydrolase subunit EBP",
                    "type": "synonym"
                },
                {
                    "name": "D8-D7 sterol isomerase",
                    "type": "synonym"
                },
                {
                    "name": "Delta(8)-Delta(7) sterol isomerase",
                    "type": "synonym"
                },
                {
                    "name": "Emopamil-binding protein",
                    "type": "synonym"
                },
                {
                    "name": "cholestenol Delta-isomerase",
                    "type": "synonym"
                },
                {
                    "name": "cholesterol-5,6-epoxide hydrolase subunit EBP",
                    "type": "synonym"
                },
                {
                    "name": "delta(8)-Delta(7) sterol isomerase",
                    "type": "synonym"
                },
                {
                    "name": "phenylalkylamine Ca2+ antagonist (emopamil) binding protein",
                    "type": "synonym"
                },
                {
                    "name": "tattered",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Ebp",
                    "type": "recommended"
                },
                {
                    "name": "Ebp",
                    "type": "synonym"
                },
                {
                    "name": "Msi",
                    "type": "synonym"
                },
                {
                    "name": "Pabp",
                    "type": "synonym"
                },
                {
                    "name": "SI",
                    "type": "synonym"
                },
                {
                    "name": "Td",
                    "type": "synonym"
                },
                {
                    "name": "mSI",
                    "type": "synonym"
                }
            ],
            "record_id": "P70245-1",
            "evidence": [
                {
                    "id": "0080352",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080352"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q15125-1",
            "uniprot_ac": "Q15125",
            "uniprot_id": "EBP_HUMAN",
            "refseq_ac": "NP_006570",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "3-beta-hydroxysteroid-Delta(8),Delta(7)-isomerase",
                    "type": "recommended"
                },
                {
                    "name": "3-beta-hydroxysteroid-Delta(8), Delta(7)-isomerase",
                    "type": "synonym"
                },
                {
                    "name": "3-beta-hydroxysteroid-delta-8,delta-7-isomerase",
                    "type": "synonym"
                },
                {
                    "name": "3.3.2.11",
                    "type": "synonym"
                },
                {
                    "name": "5.3.3.5",
                    "type": "synonym"
                },
                {
                    "name": "Cholestenol Delta-isomerase",
                    "type": "synonym"
                },
                {
                    "name": "Cholesterol-5,6-epoxide hydrolase subunit EBP",
                    "type": "synonym"
                },
                {
                    "name": "Chondrodysplasia punctata-2, X-linked dominant (Happle syndrome)",
                    "type": "synonym"
                },
                {
                    "name": "D8-D7 sterol isomerase",
                    "type": "synonym"
                },
                {
                    "name": "Delta(8)-Delta(7) sterol isomerase",
                    "type": "synonym"
                },
                {
                    "name": "Emopamil-binding protein",
                    "type": "synonym"
                },
                {
                    "name": "cholestenol Delta-isomerase",
                    "type": "synonym"
                },
                {
                    "name": "cholesterol-5,6-epoxide hydrolase subunit EBP",
                    "type": "synonym"
                },
                {
                    "name": "delta(8)-Delta(7) sterol isomerase",
                    "type": "synonym"
                },
                {
                    "name": "emopamil binding protein (sterol isomerase)",
                    "type": "synonym"
                },
                {
                    "name": "emopamil-binding protein",
                    "type": "synonym"
                },
                {
                    "name": "sterol 8-isomerase",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "EBP",
                    "type": "recommended"
                },
                {
                    "name": "CDPX2",
                    "type": "synonym"
                },
                {
                    "name": "CHO2",
                    "type": "synonym"
                },
                {
                    "name": "CPXD",
                    "type": "synonym"
                },
                {
                    "name": "CPX",
                    "type": "synonym"
                },
                {
                    "name": "D8D7I",
                    "type": "synonym"
                },
                {
                    "name": "EBP",
                    "type": "synonym"
                },
                {
                    "name": "MEND",
                    "type": "synonym"
                }
            ],
            "record_id": "Q15125-1",
            "evidence": [
                {
                    "id": "302960",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/302960"
                },
                {
                    "id": "0080352",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080352"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9JJ46-1",
            "uniprot_ac": "Q9JJ46",
            "uniprot_id": "EBP_RAT",
            "refseq_ac": "NP_476478",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "3-beta-hydroxysteroid-Delta(8),Delta(7)-isomerase",
                    "type": "recommended"
                },
                {
                    "name": "3-beta-hydroxysteroid-Delta(8), Delta(7)-isomerase",
                    "type": "synonym"
                },
                {
                    "name": "3.3.2.11",
                    "type": "synonym"
                },
                {
                    "name": "5.3.3.5",
                    "type": "synonym"
                },
                {
                    "name": "Cholestenol Delta-isomerase",
                    "type": "synonym"
                },
                {
                    "name": "Cholesterol-5,6-epoxide hydrolase subunit EBP",
                    "type": "synonym"
                },
                {
                    "name": "D8-D7 sterol isomerase",
                    "type": "synonym"
                },
                {
                    "name": "Delta(8)-Delta(7) sterol isomerase",
                    "type": "synonym"
                },
                {
                    "name": "Emopamil-binding protein",
                    "type": "synonym"
                },
                {
                    "name": "Sterol 8-isomerase",
                    "type": "synonym"
                },
                {
                    "name": "cholestenol Delta-isomerase",
                    "type": "synonym"
                },
                {
                    "name": "cholesterol-5,6-epoxide hydrolase subunit EBP",
                    "type": "synonym"
                },
                {
                    "name": "delta(8)-Delta(7) sterol isomerase",
                    "type": "synonym"
                },
                {
                    "name": "emopamil binding protein (sterol isomerase)",
                    "type": "synonym"
                },
                {
                    "name": "emopamil-binding protein",
                    "type": "synonym"
                },
                {
                    "name": "phenylalkylamine Ca2+ antagonist (emopamil) binding protein",
                    "type": "synonym"
                },
                {
                    "name": "sterol 8-isomerase",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Ebp",
                    "type": "recommended"
                },
                {
                    "name": "Ebp",
                    "type": "synonym"
                },
                {
                    "name": "Rsi",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9JJ46-1",
            "evidence": [
                {
                    "id": "0080352",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080352"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P23999-1",
            "uniprot_ac": "P23999",
            "uniprot_id": "MYCS_RAT",
            "refseq_ac": "NP_068609",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Protein S-Myc",
                    "type": "recommended"
                },
                {
                    "name": "protein S-Myc",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Mycs",
                    "type": "recommended"
                },
                {
                    "name": "Mycs",
                    "type": "synonym"
                }
            ],
            "record_id": "P23999-1",
            "evidence": [
                {
                    "id": "0080352",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080352"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0080352"
}