{
    "disease_id": "DOID:0081275",
    "recommended_name": {
        "id": "DOID:0081275",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0081275",
        "name": "neurodevelopmental disorder with eye movement abnormalities and ataxia",
        "description": "An autosomal dominant intellectual developmental disorder that is characterized by global developmental delay apparent from infancy and that has_material_basis_in heterozygous mutation in the FRMD5 gene on chromosome 15q15. Affected individuals show delayed walking with an unsteady gait, variably impaired intellectual development, learning disabilities, and speech difficulties."
    },
    "synonyms": [
        {
            "id": "DOID:0081275",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0081275",
            "name": "NEDEMA",
            "description": ""
        },
        {
            "id": "MONDO:0859305",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0859305",
            "name": "neurodevelopmental disorder with eye movement abnormalities and ataxia",
            "description": ""
        },
        {
            "id": "MIM:620094",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/620094",
            "name": "Neurodevelopmental disorder with eye movement abnormalities and ataxia",
            "description": "Neurodevelopmental disorder with eye movement abnormalities and ataxia"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0081275"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0081275",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0081275",
            "categories": []
        },
        {
            "id": "MONDO:0859305",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0859305",
            "categories": []
        },
        {
            "id": "MIM:620094",
            "database": "MIM",
            "url": "https://www.omim.org/entry/620094",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "E7F1C5-1",
            "uniprot_ac": "E7F1C5",
            "uniprot_id": "E7F1C5_DANRE",
            "refseq_ac": "XP_698481",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "FERM domain-containing protein 5",
                    "type": "recommended"
                },
                {
                    "name": "FERM domain-containing protein 5 isoform X1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "frmd5b",
                    "type": "recommended"
                },
                {
                    "name": "frmd5b",
                    "type": "synonym"
                }
            ],
            "record_id": "E7F1C5-1",
            "evidence": [
                {
                    "id": "0081275",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0081275"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "A0A8M3BC47-1",
            "uniprot_ac": "A0A8M3BC47",
            "uniprot_id": "A0A8M3BC47_DANRE",
            "refseq_ac": "XP_002663277",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "FERM domain-containing protein 3",
                    "type": "recommended"
                },
                {
                    "name": "FERM domain-containing protein 3 isoform X1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "frmd3",
                    "type": "recommended"
                },
                {
                    "name": "frmd3",
                    "type": "synonym"
                }
            ],
            "record_id": "A0A8M3BC47-1",
            "evidence": [
                {
                    "id": "0081275",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0081275"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q6P5H6-1",
            "uniprot_ac": "Q6P5H6",
            "uniprot_id": "FRMD5_MOUSE",
            "refseq_ac": "NP_766261",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "FERM domain-containing protein 5",
                    "type": "recommended"
                },
                {
                    "name": "FERM domain-containing protein 5 isoform 2",
                    "type": "synonym"
                },
                {
                    "name": "FERM domain-containing protein 5",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Frmd5",
                    "type": "recommended"
                },
                {
                    "name": "1500032A09Rik",
                    "type": "synonym"
                },
                {
                    "name": "A930004K21Rik",
                    "type": "synonym"
                },
                {
                    "name": "Frmd5",
                    "type": "synonym"
                }
            ],
            "record_id": "Q6P5H6-1",
            "evidence": [
                {
                    "id": "0081275",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0081275"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q8BHD4-1",
            "uniprot_ac": "Q8BHD4",
            "uniprot_id": "FRMD3_MOUSE",
            "refseq_ac": "NP_001157204",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "FERM domain-containing protein 3",
                    "type": "recommended"
                },
                {
                    "name": "FERM domain-containing protein 3 isoform 2",
                    "type": "synonym"
                },
                {
                    "name": "FERM domain-containing protein 3",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Frmd3",
                    "type": "recommended"
                },
                {
                    "name": "4.1O",
                    "type": "synonym"
                },
                {
                    "name": "9430066I12Rik",
                    "type": "synonym"
                },
                {
                    "name": "EPB41L4O",
                    "type": "synonym"
                },
                {
                    "name": "Frmd3",
                    "type": "synonym"
                },
                {
                    "name": "P410",
                    "type": "synonym"
                }
            ],
            "record_id": "Q8BHD4-1",
            "evidence": [
                {
                    "id": "0081275",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0081275"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q7Z6J6-1",
            "uniprot_ac": "Q7Z6J6",
            "uniprot_id": "FRMD5_HUMAN",
            "refseq_ac": "NP_116281",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "FERM domain-containing protein 5",
                    "type": "recommended"
                },
                {
                    "name": "FERM domain-containing protein 5 isoform 2",
                    "type": "synonym"
                },
                {
                    "name": "FERM domain-containing protein 5",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "FRMD5",
                    "type": "recommended"
                },
                {
                    "name": "FRMD5",
                    "type": "synonym"
                },
                {
                    "name": "NEDEMA",
                    "type": "synonym"
                }
            ],
            "record_id": "Q7Z6J6-1",
            "evidence": [
                {
                    "id": "620094",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/620094"
                },
                {
                    "id": "0081275",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0081275"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "A0ABK0LX38-1",
            "uniprot_ac": "A0ABK0LX38",
            "uniprot_id": "A0ABK0LX38_RAT",
            "refseq_ac": "XP_008760433",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "FERM domain-containing protein 5",
                    "type": "recommended"
                },
                {
                    "name": "FERM domain-containing protein 5 isoform X5",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Frmd5",
                    "type": "recommended"
                },
                {
                    "name": "Frmd5",
                    "type": "synonym"
                }
            ],
            "record_id": "A0ABK0LX38-1",
            "evidence": [
                {
                    "id": "0081275",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0081275"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "A0A8I5ZT99-1",
            "uniprot_ac": "A0A8I5ZT99",
            "uniprot_id": "A0A8I5ZT99_RAT",
            "refseq_ac": "NP_001402748",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "FERM domain-containing protein 3",
                    "type": "recommended"
                },
                {
                    "name": "FERM domain-containing protein 3 isoform 1",
                    "type": "synonym"
                },
                {
                    "name": "FERM domain-containing protein 3",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Frmd3",
                    "type": "recommended"
                },
                {
                    "name": "Frmd3",
                    "type": "synonym"
                }
            ],
            "record_id": "A0A8I5ZT99-1",
            "evidence": [
                {
                    "id": "0081275",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0081275"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9VKY7-1",
            "uniprot_ac": "Q9VKY7",
            "uniprot_id": "Q9VKY7_DROME",
            "refseq_ac": "NP_609384",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "CG5022-PA",
                    "type": "synonym"
                },
                {
                    "name": "FERM domain containing",
                    "type": "synonym"
                },
                {
                    "name": "Frmd5-PA",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Frmd5",
                    "type": "recommended"
                },
                {
                    "name": "CG5022",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG5022",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG5022",
                    "type": "synonym"
                },
                {
                    "name": "Frmd5",
                    "type": "synonym"
                },
                {
                    "name": "dFrmd",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9VKY7-1",
            "evidence": [
                {
                    "id": "0081275",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0081275"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "A2A2Y4-1",
            "uniprot_ac": "A2A2Y4",
            "uniprot_id": "FRMD3_HUMAN",
            "refseq_ac": "NP_001231888",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "FERM domain-containing protein 3",
                    "type": "recommended"
                },
                {
                    "name": "4.1O",
                    "type": "synonym"
                },
                {
                    "name": "Band 4.1-like protein 4O",
                    "type": "synonym"
                },
                {
                    "name": "FERM domain-containing protein 3 isoform 2",
                    "type": "synonym"
                },
                {
                    "name": "FERM domain-containing protein 3",
                    "type": "synonym"
                },
                {
                    "name": "Ovary type protein 4.1",
                    "type": "synonym"
                },
                {
                    "name": "band 4.1-like protein 4O",
                    "type": "synonym"
                },
                {
                    "name": "band 4.1-like protein 4",
                    "type": "synonym"
                },
                {
                    "name": "ovary type protein 4.1",
                    "type": "synonym"
                },
                {
                    "name": "protein 4.1O",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "FRMD3",
                    "type": "recommended"
                },
                {
                    "name": "4.1O",
                    "type": "synonym"
                },
                {
                    "name": "EPB41L4O",
                    "type": "synonym"
                },
                {
                    "name": "EPB41LO",
                    "type": "synonym"
                },
                {
                    "name": "FRMD3",
                    "type": "synonym"
                },
                {
                    "name": "P410",
                    "type": "synonym"
                }
            ],
            "record_id": "A2A2Y4-1",
            "evidence": [
                {
                    "id": "0081275",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0081275"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0081275"
}