{
    "disease_id": "DOID:0070011",
    "recommended_name": {
        "id": "DOID:0070011",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0070011",
        "name": "Seckel syndrome 7",
        "description": "A Seckel syndrome that has_material_basis_in compound heterozygous mutation in the NIN gene on chromosome 14q22."
    },
    "synonyms": [
        {
            "id": "DOID:0070011",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070011",
            "name": "SCKL7",
            "description": ""
        },
        {
            "id": "MONDO:0013922",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013922",
            "name": "Seckel syndrome 7",
            "description": "Microcephalic primordial dwarfism, Dauber type is a rare, genetic developmental defect during embryogenesis characterized by severe pre- and postnatal growth retardation, severe microcephaly, severe developmental delay and intelletual disability, severe adult short stature and facial dysmorphism (incl. hypotelorism, small ears, prominent nose). Other reported features include skeletal anomalies (Madelung deformity, clinodactyly, mild lumbar scoliosis, bilateral hip dysplasia) and seizures. Absence of thelarche and menarche is also associated."
        },
        {
            "id": "MONDO:0013922",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013922",
            "name": "NIN Seckel syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0013922",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013922",
            "name": "SCKL7",
            "description": ""
        },
        {
            "id": "MONDO:0013922",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013922",
            "name": "Seckel syndrome 7",
            "description": ""
        },
        {
            "id": "MONDO:0013922",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013922",
            "name": "Seckel syndrome caused by mutation in NIN",
            "description": ""
        },
        {
            "id": "MONDO:0013922",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013922",
            "name": "Seckel syndrome type 7",
            "description": ""
        },
        {
            "id": "MONDO:0013922",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013922",
            "name": "microcephalic primordial dwarfism, Dauber type",
            "description": ""
        },
        {
            "id": "MIM:614851",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/614851",
            "name": "Seckel syndrome 7",
            "description": "Seckel syndrome 7"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0070011"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0070011",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070011",
            "categories": []
        },
        {
            "id": "MONDO:0013922",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013922",
            "categories": []
        },
        {
            "id": "MIM:614851",
            "database": "MIM",
            "url": "https://www.omim.org/entry/614851",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "A0AC58H2S6-1",
            "uniprot_ac": "A0AC58H2S6",
            "uniprot_id": "A0AC58H2S6_DANRE",
            "refseq_ac": "XP_073776289",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Ninein isoform X1",
                    "type": "synonym"
                },
                {
                    "name": "ninein isoform X1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "nin",
                    "type": "recommended"
                },
                {
                    "name": "nin",
                    "type": "synonym"
                }
            ],
            "record_id": "A0AC58H2S6-1",
            "evidence": [
                {
                    "id": "0070011",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070011"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q61043-3",
            "uniprot_ac": "Q61043",
            "uniprot_id": "NIN_MOUSE",
            "refseq_ac": "NP_001273008",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Ninein",
                    "type": "recommended"
                },
                {
                    "name": "ninein isoform 2",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Nin",
                    "type": "recommended"
                },
                {
                    "name": "3110068G20Rik",
                    "type": "synonym"
                },
                {
                    "name": "Kiaa1565",
                    "type": "synonym"
                },
                {
                    "name": "Nin",
                    "type": "synonym"
                },
                {
                    "name": "mKIAA1565",
                    "type": "synonym"
                }
            ],
            "record_id": "Q61043-3",
            "evidence": [
                {
                    "id": "0070011",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070011"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q8N4C6-1",
            "uniprot_ac": "Q8N4C6",
            "uniprot_id": "NIN_HUMAN",
            "refseq_ac": "NP_057434",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Ninein",
                    "type": "recommended"
                },
                {
                    "name": "GSK3B-interacting protein",
                    "type": "synonym"
                },
                {
                    "name": "Glycogen synthase kinase 3 beta-interacting protein",
                    "type": "synonym"
                },
                {
                    "name": "glycogen synthase kinase 3 beta-interacting protein",
                    "type": "synonym"
                },
                {
                    "name": "hNinein",
                    "type": "synonym"
                },
                {
                    "name": "ninein (GSK3B interacting protein)",
                    "type": "synonym"
                },
                {
                    "name": "ninein centrosomal protein",
                    "type": "synonym"
                },
                {
                    "name": "ninein isoform 6",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "NIN",
                    "type": "recommended"
                },
                {
                    "name": "KIAA1565",
                    "type": "synonym"
                },
                {
                    "name": "NIN",
                    "type": "synonym"
                },
                {
                    "name": "SCKL7",
                    "type": "synonym"
                }
            ],
            "record_id": "Q8N4C6-1",
            "evidence": [
                {
                    "id": "614851",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/614851"
                },
                {
                    "id": "0070011",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070011"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "A0A8I6A7B7-1",
            "uniprot_ac": "A0A8I6A7B7",
            "uniprot_id": "A0A8I6A7B7_RAT",
            "refseq_ac": "XP_008762927",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Ninein",
                    "type": "synonym"
                },
                {
                    "name": "ninein isoform X3",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Nin",
                    "type": "recommended"
                },
                {
                    "name": "Nin",
                    "type": "synonym"
                }
            ],
            "record_id": "A0A8I6A7B7-1",
            "evidence": [
                {
                    "id": "0070011",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070011"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P11929-1",
            "uniprot_ac": "P11929",
            "uniprot_id": "NINL_DROME",
            "refseq_ac": "NP_476916",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "Ninein homolog",
                    "type": "recommended"
                },
                {
                    "name": "Blastoderm-specific gene 25D",
                    "type": "synonym"
                },
                {
                    "name": "Blastoderm-specific protein 25D",
                    "type": "synonym"
                },
                {
                    "name": "CG14025-PH",
                    "type": "synonym"
                },
                {
                    "name": "Nin-PH",
                    "type": "synonym"
                },
                {
                    "name": "ninein, isoform H",
                    "type": "synonym"
                },
                {
                    "name": "ninein",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Nin",
                    "type": "recommended"
                },
                {
                    "name": "Bsg25D",
                    "type": "synonym"
                },
                {
                    "name": "CG14025",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG14025",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG14025",
                    "type": "synonym"
                },
                {
                    "name": "Nin",
                    "type": "synonym"
                },
                {
                    "name": "brg25D",
                    "type": "synonym"
                },
                {
                    "name": "bsg25D",
                    "type": "synonym"
                },
                {
                    "name": "bsq25D",
                    "type": "synonym"
                },
                {
                    "name": "nin",
                    "type": "synonym"
                }
            ],
            "record_id": "P11929-1",
            "evidence": [
                {
                    "id": "0070011",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070011"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0070011"
}