{
    "disease_id": "DOID:0111717",
    "recommended_name": {
        "id": "DOID:0111717",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0111717",
        "name": "isolated cryptophthalmia",
        "description": "A cryptophthalmia characterized by absence of the eyelids with skin covering the eye and often an underlying malformed eye."
    },
    "synonyms": [
        {
            "id": "DOID:0111717",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111717",
            "name": "CRYPTOP",
            "description": ""
        },
        {
            "id": "DOID:0111717",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111717",
            "name": "unilateral or bilateral isolated cryptophthalmos",
            "description": ""
        },
        {
            "id": "MONDO:0007410",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007410",
            "name": "isolated cryptophthalmia",
            "description": "Isolated cryptophtalmia is a congenital abnormality in which the eyelids are absent and skin covers the ocular bulb, which is often microphthalmic. Six cases of complete bilateral crytophthalmia have been described. Transmission is autosomal dominant."
        },
        {
            "id": "MONDO:0007410",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007410",
            "name": "nonsyndromic cryptophthalmia",
            "description": ""
        },
        {
            "id": "MIM:123570",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/123570",
            "name": "Cryptophthalmos, unilateral or bilateral, isolated",
            "description": "Cryptophthalmos, unilateral or bilateral, isolated"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0111717"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0111717",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111717",
            "categories": []
        },
        {
            "id": "MONDO:0007410",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007410",
            "categories": []
        },
        {
            "id": "MIM:123570",
            "database": "MIM",
            "url": "https://www.omim.org/entry/123570",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "A0ACD6B5C5-1",
            "uniprot_ac": "A0ACD6B5C5",
            "uniprot_id": "A0ACD6B5C5_DANRE",
            "refseq_ac": "XP_005155437",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "FRAS1-related extracellular matrix protein 2a isoform X1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "frem2a",
                    "type": "recommended"
                },
                {
                    "name": "bla",
                    "type": "synonym"
                },
                {
                    "name": "frem2a",
                    "type": "synonym"
                }
            ],
            "record_id": "A0ACD6B5C5-1",
            "evidence": [
                {
                    "id": "0111717",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111717"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q6NVD0-1",
            "uniprot_ac": "Q6NVD0",
            "uniprot_id": "FREM2_MOUSE",
            "refseq_ac": "NP_766450",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "FRAS1-related extracellular matrix protein 2",
                    "type": "recommended"
                },
                {
                    "name": "ECM3 homolog",
                    "type": "synonym"
                },
                {
                    "name": "FRAS1-related extracellular matrix protein 2 precursor",
                    "type": "synonym"
                },
                {
                    "name": "FRAS1-related extracellular matrix protein 2",
                    "type": "synonym"
                },
                {
                    "name": "NV domain containing protein NV1",
                    "type": "synonym"
                },
                {
                    "name": "NV domain-containing protein 1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Frem2",
                    "type": "recommended"
                },
                {
                    "name": "6030440P17Rik",
                    "type": "synonym"
                },
                {
                    "name": "8430406N05Rik",
                    "type": "synonym"
                },
                {
                    "name": "Frem2",
                    "type": "synonym"
                },
                {
                    "name": "Gm409",
                    "type": "synonym"
                },
                {
                    "name": "Nv1",
                    "type": "synonym"
                },
                {
                    "name": "b2b1562Clo",
                    "type": "synonym"
                },
                {
                    "name": "my",
                    "type": "synonym"
                },
                {
                    "name": "ne",
                    "type": "synonym"
                },
                {
                    "name": "nv1",
                    "type": "synonym"
                }
            ],
            "record_id": "Q6NVD0-1",
            "evidence": [
                {
                    "id": "0111717",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111717"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q5SZK8-1",
            "uniprot_ac": "Q5SZK8",
            "uniprot_id": "FREM2_HUMAN",
            "refseq_ac": "NP_997244",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "FRAS1-related extracellular matrix protein 2",
                    "type": "recommended"
                },
                {
                    "name": "ECM3 homolog",
                    "type": "synonym"
                },
                {
                    "name": "FRAS1 related extracellular matrix protein 2",
                    "type": "synonym"
                },
                {
                    "name": "FRAS1-related extracellular matrix protein 2 precursor",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "FREM2",
                    "type": "recommended"
                },
                {
                    "name": "CRYPTOP",
                    "type": "synonym"
                },
                {
                    "name": "FRASRS2",
                    "type": "synonym"
                },
                {
                    "name": "FREM2",
                    "type": "synonym"
                }
            ],
            "record_id": "Q5SZK8-1",
            "evidence": [
                {
                    "id": "123570",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/123570"
                },
                {
                    "id": "0111717",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111717"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "D3ZG74-1",
            "uniprot_ac": "D3ZG74",
            "uniprot_id": "D3ZG74_RAT",
            "refseq_ac": "",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "FRAS1-related extracellular matrix protein 2",
                    "type": "recommended"
                },
                {
                    "name": "ECM3 homolog",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Frem2",
                    "type": "recommended"
                }
            ],
            "record_id": "D3ZG74-1",
            "evidence": [
                {
                    "id": "0111717",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111717"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0111717"
}