{
    "disease_id": "DOID:0050528",
    "recommended_name": {
        "id": "DOID:0050528",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0050528",
        "name": "nonphotosensitive trichothiodystrophy 4",
        "description": "A nonphotosensitive trichothiodystrophy that is characterized by brittle hair, short stature, decreased fertility and cognitive impairment without photosensitivity has_material_basis_in mutations in the TTDN1 gene."
    },
    "synonyms": [
        {
            "id": "DOID:0050528",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0050528",
            "name": "AMISH BRITTLE HAIR BRAIN SYNDROME",
            "description": ""
        },
        {
            "id": "DOID:0050528",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0050528",
            "name": "HAIR-BRAIN SYNDROME",
            "description": ""
        },
        {
            "id": "DOID:0050528",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0050528",
            "name": "BIDS syndrome",
            "description": ""
        },
        {
            "id": "DOID:0050528",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0050528",
            "name": "TTD4",
            "description": ""
        },
        {
            "id": "MONDO:0021013",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0021013",
            "name": "trichothiodystrophy 4, nonphotosensitive",
            "description": "A subtype of trichothiodystrophy caused by mutation(s) in the MPLKIP gene, encoding M-phase-specific PLK1-interacting protein."
        },
        {
            "id": "MONDO:0021013",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0021013",
            "name": "MPLKIP nonphotosensitive trichothiodystrophy",
            "description": ""
        },
        {
            "id": "MONDO:0021013",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0021013",
            "name": "Pollitt syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0021013",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0021013",
            "name": "TTD4",
            "description": ""
        },
        {
            "id": "MONDO:0021013",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0021013",
            "name": "nonphotosensitive trichothiodystrophy caused by mutation in MPLKIP",
            "description": ""
        },
        {
            "id": "MONDO:0021013",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0021013",
            "name": "trichothiodystrophy 4, nonphotosensitive",
            "description": ""
        },
        {
            "id": "MIM:234050",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/234050",
            "name": "Trichothiodystrophy 4, non-photosensitive",
            "description": "Trichothiodystrophy 4, non-photosensitive"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0050528"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0050528",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0050528",
            "categories": []
        },
        {
            "id": "MONDO:0021013",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0021013",
            "categories": []
        },
        {
            "id": "MIM:234050",
            "database": "MIM",
            "url": "https://www.omim.org/entry/234050",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "B0V0W7-1",
            "uniprot_ac": "B0V0W7",
            "uniprot_id": "B0V0W7_DANRE",
            "refseq_ac": "NP_001189415",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "M-phase-specific PLK1-interacting protein",
                    "type": "synonym"
                },
                {
                    "name": "TTD non-photosensitive 1 protein-like",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "mplkip",
                    "type": "recommended"
                },
                {
                    "name": "mplkip",
                    "type": "synonym"
                },
                {
                    "name": "si:ch211-202i17.3",
                    "type": "synonym"
                }
            ],
            "record_id": "B0V0W7-1",
            "evidence": [
                {
                    "id": "0050528",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0050528"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9D011-1",
            "uniprot_ac": "Q9D011",
            "uniprot_id": "MPLKI_MOUSE",
            "refseq_ac": "NP_079755",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "M-phase-specific PLK1-interacting protein",
                    "type": "recommended"
                },
                {
                    "name": "M-phase-specific PLK1-interacting protein",
                    "type": "synonym"
                },
                {
                    "name": "TTD non-photosensitive 1 protein homolog",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Mplkip",
                    "type": "recommended"
                },
                {
                    "name": "2810021B07Rik",
                    "type": "synonym"
                },
                {
                    "name": "C330007M08Rik",
                    "type": "synonym"
                },
                {
                    "name": "Mplkip",
                    "type": "synonym"
                },
                {
                    "name": "Ttdn1",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9D011-1",
            "evidence": [
                {
                    "id": "0050528",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0050528"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "J3QQ10-1",
            "uniprot_ac": "J3QQ10",
            "uniprot_id": "J3QQ10_MOUSE",
            "refseq_ac": "NP_001170984",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "M-phase specific PLK1 intereacting protein like 1",
                    "type": "synonym"
                },
                {
                    "name": "TTD non-photosensitive 1 protein homolog",
                    "type": "synonym"
                },
                {
                    "name": "TTD non-photosensitive 1-like protein",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Mplkipl1",
                    "type": "recommended"
                },
                {
                    "name": "EG633057",
                    "type": "synonym"
                },
                {
                    "name": "Gm7102",
                    "type": "synonym"
                },
                {
                    "name": "Mplkipl1",
                    "type": "synonym"
                }
            ],
            "record_id": "J3QQ10-1",
            "evidence": [
                {
                    "id": "0050528",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0050528"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q8TAP9-1",
            "uniprot_ac": "Q8TAP9",
            "uniprot_id": "MPLKI_HUMAN",
            "refseq_ac": "NP_619646",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "M-phase-specific PLK1-interacting protein",
                    "type": "recommended"
                },
                {
                    "name": "M-phase-specific PLK1-interacting protein",
                    "type": "synonym"
                },
                {
                    "name": "Russell-Silver syndrome region",
                    "type": "synonym"
                },
                {
                    "name": "TTD non-photosensitive 1 protein",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "MPLKIP",
                    "type": "recommended"
                },
                {
                    "name": "ABHS",
                    "type": "synonym"
                },
                {
                    "name": "C7orf11",
                    "type": "synonym"
                },
                {
                    "name": "MPLKIP",
                    "type": "synonym"
                },
                {
                    "name": "ORF20",
                    "type": "synonym"
                },
                {
                    "name": "TTD4",
                    "type": "synonym"
                },
                {
                    "name": "TTDN1",
                    "type": "synonym"
                }
            ],
            "record_id": "Q8TAP9-1",
            "evidence": [
                {
                    "id": "234050",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/234050"
                },
                {
                    "id": "0050528",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0050528"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "D3ZVR4-1",
            "uniprot_ac": "D3ZVR4",
            "uniprot_id": "D3ZVR4_RAT",
            "refseq_ac": "NP_001102922",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "M-phase specific PLK1 interacting protein",
                    "type": "synonym"
                },
                {
                    "name": "M-phase-specific PLK1-interacting protein",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Mplkip",
                    "type": "recommended"
                },
                {
                    "name": "Mplkip",
                    "type": "synonym"
                }
            ],
            "record_id": "D3ZVR4-1",
            "evidence": [
                {
                    "id": "0050528",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0050528"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0050528"
}