{
    "disease_id": "DOID:0060902",
    "recommended_name": {
        "id": "DOID:0060902",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0060902",
        "name": "Norman-Roberts syndrome",
        "description": "A lissencephaly that has_material_basis_in homozygous mutation in the gene encoding reelin (RELN) on chromosome 7q22."
    },
    "synonyms": [
        {
            "id": "DOID:0060902",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0060902",
            "name": "lissencephaly 2",
            "description": ""
        },
        {
            "id": "DOID:0060902",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0060902",
            "name": "lissencephaly syndrome, Norman-Roberts type",
            "description": ""
        },
        {
            "id": "MONDO:0009760",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009760",
            "name": "Norman-Roberts syndrome",
            "description": "Lissencephaly syndrome, Norman-Roberts type is characterized by the association of lissencephaly type I with craniofacial anomalies (severe microcephaly, a low sloping forehead, a broad and prominent nasal bridge and widely set eyes) and postnatal growth retardation."
        },
        {
            "id": "MONDO:0009760",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009760",
            "name": "Microlissencephaly type A",
            "description": ""
        },
        {
            "id": "MONDO:0009760",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009760",
            "name": "Norman-Roberts syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0009760",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009760",
            "name": "lissencephaly 2",
            "description": ""
        },
        {
            "id": "MONDO:0009760",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009760",
            "name": "lissencephaly 2 (Norman-Roberts type)",
            "description": ""
        },
        {
            "id": "MONDO:0009760",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009760",
            "name": "lissencephaly syndrome, Norman-Roberts type",
            "description": ""
        },
        {
            "id": "MONDO:0009760",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009760",
            "name": "LIS2",
            "description": ""
        },
        {
            "id": "MONDO:0009760",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009760",
            "name": "Norman Roberts lissencephaly syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0009760",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009760",
            "name": "lissencephaly syndrome Norman-Roberts type",
            "description": ""
        },
        {
            "id": "MIM:257320",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/257320",
            "name": "Lissencephaly 2",
            "description": "Lissencephaly 2"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0060902"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0060902",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0060902",
            "categories": []
        },
        {
            "id": "MONDO:0009760",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009760",
            "categories": []
        },
        {
            "id": "MIM:257320",
            "database": "MIM",
            "url": "https://www.omim.org/entry/257320",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "Q60841-1",
            "uniprot_ac": "Q60841",
            "uniprot_id": "RELN_MOUSE",
            "refseq_ac": "NP_001297393",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Reelin",
                    "type": "recommended"
                },
                {
                    "name": "3.4.21.-",
                    "type": "synonym"
                },
                {
                    "name": "Reeler protein",
                    "type": "synonym"
                },
                {
                    "name": "extracellular matrix serine protease",
                    "type": "synonym"
                },
                {
                    "name": "reelin isoform 2 precursor",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Reln",
                    "type": "recommended"
                },
                {
                    "name": "Reln",
                    "type": "synonym"
                },
                {
                    "name": "Rl",
                    "type": "synonym"
                },
                {
                    "name": "reeler",
                    "type": "synonym"
                },
                {
                    "name": "rl",
                    "type": "synonym"
                }
            ],
            "record_id": "Q60841-1",
            "evidence": [
                {
                    "id": "0060902",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060902"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P78509-1",
            "uniprot_ac": "P78509",
            "uniprot_id": "RELN_HUMAN",
            "refseq_ac": "NP_005036",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Reelin",
                    "type": "recommended"
                },
                {
                    "name": "3.4.21.-",
                    "type": "synonym"
                },
                {
                    "name": "reelin isoform a precursor",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "RELN",
                    "type": "recommended"
                },
                {
                    "name": "ETL7",
                    "type": "synonym"
                },
                {
                    "name": "LIS2",
                    "type": "synonym"
                },
                {
                    "name": "PRO1598",
                    "type": "synonym"
                },
                {
                    "name": "RELN",
                    "type": "synonym"
                },
                {
                    "name": "RL",
                    "type": "synonym"
                }
            ],
            "record_id": "P78509-1",
            "evidence": [
                {
                    "id": "257320",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/257320"
                },
                {
                    "id": "0060902",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060902"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P58751-1",
            "uniprot_ac": "P58751",
            "uniprot_id": "RELN_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": "Reelin",
                    "type": "recommended"
                },
                {
                    "name": "3.4.21.-",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Reln",
                    "type": "recommended"
                }
            ],
            "record_id": "P58751-1",
            "evidence": [
                {
                    "id": "0060902",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060902"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "O00519-1",
            "uniprot_ac": "O00519",
            "uniprot_id": "FAAH1_HUMAN",
            "refseq_ac": "NP_001432",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Fatty-acid amide hydrolase 1",
                    "type": "recommended"
                },
                {
                    "name": "3.1.1.-",
                    "type": "synonym"
                },
                {
                    "name": "3.5.1.99",
                    "type": "synonym"
                },
                {
                    "name": "Anandamide amidohydrolase 1",
                    "type": "synonym"
                },
                {
                    "name": "Fatty acid ester hydrolase",
                    "type": "synonym"
                },
                {
                    "name": "Oleamide hydrolase 1",
                    "type": "synonym"
                },
                {
                    "name": "anandamide amidohydrolase 1",
                    "type": "synonym"
                },
                {
                    "name": "fatty acid ester hydrolase",
                    "type": "synonym"
                },
                {
                    "name": "fatty-acid amide hydrolase 1",
                    "type": "synonym"
                },
                {
                    "name": "oleamide hydrolase 1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "FAAH",
                    "type": "recommended"
                },
                {
                    "name": "FAAH-1",
                    "type": "synonym"
                },
                {
                    "name": "FAAH1",
                    "type": "synonym"
                },
                {
                    "name": "FAAH",
                    "type": "synonym"
                },
                {
                    "name": "PSAB",
                    "type": "synonym"
                }
            ],
            "record_id": "O00519-1",
            "evidence": [
                {
                    "id": "0060902",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060902"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0060902"
}