{
    "disease_id": "DOID:0060599",
    "recommended_name": {
        "id": "DOID:0060599",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0060599",
        "name": "Nance-Horan syndrome",
        "description": "A syndrome that has_material_basis_in mutation in the NHS gene on chromosome Xp22 and is characterized by congenital cataract leading to profound vision loss, characteristic dysmorphic features and dental anomalies."
    },
    "synonyms": [
        {
            "id": "MONDO:0010545",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010545",
            "name": "Nance-Horan syndrome",
            "description": "A syndrome characterized by the association in male patients of congenital cataracts with microcornea, dental anomalies and facial dysmorphism."
        },
        {
            "id": "MONDO:0010545",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010545",
            "name": "Nance-Horan syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0010545",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010545",
            "name": "nance-horan syndrome, X-linked dominant",
            "description": ""
        },
        {
            "id": "MONDO:0010545",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010545",
            "name": "Mesiodens cataract syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0010545",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010545",
            "name": "NHS",
            "description": ""
        },
        {
            "id": "MONDO:0010545",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010545",
            "name": "cataract X-linked with Hutchinsonian teeth",
            "description": ""
        },
        {
            "id": "MONDO:0010545",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010545",
            "name": "cataract dental syndrome",
            "description": ""
        },
        {
            "id": "MIM:302350",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/302350",
            "name": "Nance-Horan syndrome",
            "description": "Nance-Horan syndrome"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0060599"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0060599",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0060599",
            "categories": []
        },
        {
            "id": "MONDO:0010545",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010545",
            "categories": []
        },
        {
            "id": "MIM:302350",
            "database": "MIM",
            "url": "https://www.omim.org/entry/302350",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "A0A8M9PVJ7-1",
            "uniprot_ac": "A0A8M9PVJ7",
            "uniprot_id": "A0A8M9PVJ7_DANRE",
            "refseq_ac": "XP_021335532",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Actin remodeling regulator NHS isoform X1",
                    "type": "synonym"
                },
                {
                    "name": "actin remodeling regulator NHS isoform X1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "nhsb",
                    "type": "recommended"
                },
                {
                    "name": "nhsb",
                    "type": "synonym"
                }
            ],
            "record_id": "A0A8M9PVJ7-1",
            "evidence": [
                {
                    "id": "0060599",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060599"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "A0A8M9PLD5-1",
            "uniprot_ac": "A0A8M9PLD5",
            "uniprot_id": "A0A8M9PLD5_DANRE",
            "refseq_ac": "XP_021325719",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Actin remodeling regulator NHS isoform X1",
                    "type": "synonym"
                },
                {
                    "name": "actin remodeling regulator NHS isoform X1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "nhsa",
                    "type": "recommended"
                },
                {
                    "name": "nhsa",
                    "type": "synonym"
                }
            ],
            "record_id": "A0A8M9PLD5-1",
            "evidence": [
                {
                    "id": "0060599",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060599"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q6T4R5-1",
            "uniprot_ac": "Q6T4R5",
            "uniprot_id": "NHS_HUMAN",
            "refseq_ac": "NP_001129496",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Actin remodeling regulator NHS",
                    "type": "recommended"
                },
                {
                    "name": "Congenital cataracts and dental anomalies protein",
                    "type": "synonym"
                },
                {
                    "name": "Nance-Horan syndrome (congenital cataracts and dental anomalies)",
                    "type": "synonym"
                },
                {
                    "name": "Nance-Horan syndrome protein",
                    "type": "synonym"
                },
                {
                    "name": "actin remodeling regulator NHS isoform 2",
                    "type": "synonym"
                },
                {
                    "name": "actin remodeling regulator NHS",
                    "type": "synonym"
                },
                {
                    "name": "congenital cataracts and dental anomalies protein",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "NHS",
                    "type": "recommended"
                },
                {
                    "name": "CTRCT40",
                    "type": "synonym"
                },
                {
                    "name": "CXN",
                    "type": "synonym"
                },
                {
                    "name": "NHS",
                    "type": "synonym"
                }
            ],
            "record_id": "Q6T4R5-1",
            "evidence": [
                {
                    "id": "302350",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/302350"
                },
                {
                    "id": "0060599",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060599"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "A0A0G2JXJ0-1",
            "uniprot_ac": "A0A0G2JXJ0",
            "uniprot_id": "A0A0G2JXJ0_RAT",
            "refseq_ac": "XP_017457574",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "NHS actin remodeling regulator",
                    "type": "synonym"
                },
                {
                    "name": "actin remodeling regulator NHS isoform X1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Nhs",
                    "type": "recommended"
                },
                {
                    "name": "Nhs",
                    "type": "synonym"
                },
                {
                    "name": "RGD1561818",
                    "type": "synonym"
                }
            ],
            "record_id": "A0A0G2JXJ0-1",
            "evidence": [
                {
                    "id": "0060599",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060599"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9VE13-1",
            "uniprot_ac": "Q9VE13",
            "uniprot_id": "Q9VE13_DROME",
            "refseq_ac": "NP_732393",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "Wiskott-Aldrich syndrome protein family member",
                    "type": "recommended"
                },
                {
                    "name": "CG31043-PA",
                    "type": "synonym"
                },
                {
                    "name": "GUK holder",
                    "type": "synonym"
                },
                {
                    "name": "GUK-holder, isoform A",
                    "type": "synonym"
                },
                {
                    "name": "WASP family protein member",
                    "type": "synonym"
                },
                {
                    "name": "gukh-PA",
                    "type": "synonym"
                },
                {
                    "name": "gukholder",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "gukh",
                    "type": "recommended"
                },
                {
                    "name": "CG14287",
                    "type": "synonym"
                },
                {
                    "name": "CG14288",
                    "type": "synonym"
                },
                {
                    "name": "CG31043",
                    "type": "synonym"
                },
                {
                    "name": "CG5456",
                    "type": "synonym"
                },
                {
                    "name": "CG6003",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG31043",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG31043",
                    "type": "synonym"
                },
                {
                    "name": "GUKH",
                    "type": "synonym"
                },
                {
                    "name": "GUKh",
                    "type": "synonym"
                },
                {
                    "name": "GukH",
                    "type": "synonym"
                },
                {
                    "name": "Gukh",
                    "type": "synonym"
                },
                {
                    "name": "anon-WO0118547.205",
                    "type": "synonym"
                },
                {
                    "name": "gukh",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9VE13-1",
            "evidence": [
                {
                    "id": "0060599",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060599"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0060599"
}