{
    "disease_id": "DOID:0070307",
    "recommended_name": {
        "id": "DOID:0070307",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0070307",
        "name": "craniolenticulosutural dysplasia",
        "description": "A syndrome in neonates that is characterized by facial dysmorphism, late-closing fontanels, cataract, and skeletal defects. It has_material_basis_in the mutation of the SEC23A gene on the 14th chromosome, with the underproduction in the collagen secreting pathway and distension of endoplasmic reticulum leading to bone defects."
    },
    "synonyms": [
        {
            "id": "DOID:0070307",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070307",
            "name": "Boyadjiev-Jabs Syndrome",
            "description": ""
        },
        {
            "id": "DOID:0070307",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070307",
            "name": "cranio-lenticulo-sutural dysplasia, CLSD",
            "description": ""
        },
        {
            "id": "MONDO:0011911",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011911",
            "name": "craniolenticulosutural dysplasia",
            "description": "Craniolenticulosutural dysplasia (CLSD), also known as Boyadjiev-Jabs syndrome, is characterized by the specific association of large and late-closing fontanels, hypertelorism, early-onset cataract and mild generalized skeletal dysplasia."
        },
        {
            "id": "MONDO:0011911",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011911",
            "name": "Boyadjiev-Jabs syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0011911",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011911",
            "name": "craniolenticulosutural dysplasia",
            "description": ""
        },
        {
            "id": "MONDO:0011911",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011911",
            "name": "CLSD",
            "description": ""
        },
        {
            "id": "MIM:607812",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/607812",
            "name": "Craniolenticulosutural dysplasia",
            "description": "Craniolenticulosutural dysplasia"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0070307"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0070307",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070307",
            "categories": []
        },
        {
            "id": "MONDO:0011911",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011911",
            "categories": []
        },
        {
            "id": "MIM:607812",
            "database": "MIM",
            "url": "https://www.omim.org/entry/607812",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "Q7SZE5-1",
            "uniprot_ac": "Q7SZE5",
            "uniprot_id": "SC23A_DANRE",
            "refseq_ac": "NP_998630",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Protein transport protein Sec23A",
                    "type": "recommended"
                },
                {
                    "name": "SEC23-related protein A",
                    "type": "synonym"
                },
                {
                    "name": "Sec23 homolog A, COPII coat complex component",
                    "type": "synonym"
                },
                {
                    "name": "crusher",
                    "type": "synonym"
                },
                {
                    "name": "protein transport protein Sec23A",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "sec23a",
                    "type": "recommended"
                },
                {
                    "name": "sec23a",
                    "type": "synonym"
                },
                {
                    "name": "wu:fc10f08",
                    "type": "synonym"
                },
                {
                    "name": "wu:fi15g03",
                    "type": "synonym"
                },
                {
                    "name": "zgc:55534",
                    "type": "synonym"
                }
            ],
            "record_id": "Q7SZE5-1",
            "evidence": [
                {
                    "id": "0070307",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070307"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "A0A8M6Z6P7-1",
            "uniprot_ac": "A0A8M6Z6P7",
            "uniprot_id": "A0A8M6Z6P7_DANRE",
            "refseq_ac": "XP_017211933",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Protein transport protein SEC23",
                    "type": "recommended"
                },
                {
                    "name": "protein transport protein Sec23B isoform X1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "sec23b",
                    "type": "recommended"
                },
                {
                    "name": "fl08h02",
                    "type": "synonym"
                },
                {
                    "name": "sec23b",
                    "type": "synonym"
                },
                {
                    "name": "wu:fd19h01",
                    "type": "synonym"
                },
                {
                    "name": "wu:fl08h02",
                    "type": "synonym"
                },
                {
                    "name": "zgc:55595",
                    "type": "synonym"
                },
                {
                    "name": "zgc:86871",
                    "type": "synonym"
                }
            ],
            "record_id": "A0A8M6Z6P7-1",
            "evidence": [
                {
                    "id": "0070307",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070307"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q01405-1",
            "uniprot_ac": "Q01405",
            "uniprot_id": "SC23A_MOUSE",
            "refseq_ac": "NP_033173",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Protein transport protein Sec23A",
                    "type": "recommended"
                },
                {
                    "name": "SEC23-related protein A",
                    "type": "synonym"
                },
                {
                    "name": "protein transport protein Sec23A",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Sec23a",
                    "type": "recommended"
                },
                {
                    "name": "Msec23",
                    "type": "synonym"
                },
                {
                    "name": "Sec23a",
                    "type": "synonym"
                },
                {
                    "name": "Sec23r",
                    "type": "synonym"
                },
                {
                    "name": "Sec23",
                    "type": "synonym"
                }
            ],
            "record_id": "Q01405-1",
            "evidence": [
                {
                    "id": "0070307",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070307"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9D662-1",
            "uniprot_ac": "Q9D662",
            "uniprot_id": "SC23B_MOUSE",
            "refseq_ac": "NP_001239472",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Protein transport protein Sec23B",
                    "type": "recommended"
                },
                {
                    "name": "SEC23-related protein B",
                    "type": "synonym"
                },
                {
                    "name": "protein transport protein Sec23B isoform 1",
                    "type": "synonym"
                },
                {
                    "name": "protein transport protein Sec23B",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Sec23b",
                    "type": "recommended"
                },
                {
                    "name": "Sec23b",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9D662-1",
            "evidence": [
                {
                    "id": "0070307",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070307"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q15436-1",
            "uniprot_ac": "Q15436",
            "uniprot_id": "SC23A_HUMAN",
            "refseq_ac": "NP_006355",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Protein transport protein Sec23A",
                    "type": "recommended"
                },
                {
                    "name": "SEC23 homolog A, COPII coat complex component",
                    "type": "synonym"
                },
                {
                    "name": "SEC23-related protein A",
                    "type": "synonym"
                },
                {
                    "name": "Sec23 homolog A, coat complex II component",
                    "type": "synonym"
                },
                {
                    "name": "hSec23A",
                    "type": "synonym"
                },
                {
                    "name": "protein transport protein SEC23A",
                    "type": "synonym"
                },
                {
                    "name": "protein transport protein Sec23A isoform 1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "SEC23A",
                    "type": "recommended"
                },
                {
                    "name": "CLSD",
                    "type": "synonym"
                },
                {
                    "name": "SEC23A",
                    "type": "synonym"
                },
                {
                    "name": "hSec23A",
                    "type": "synonym"
                }
            ],
            "record_id": "Q15436-1",
            "evidence": [
                {
                    "id": "0011911",
                    "database": "MONDO",
                    "url": "https://monarchinitiative.org/disease/MONDO:0011911"
                },
                {
                    "id": "607812",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/607812"
                },
                {
                    "id": "0070307",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070307"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P15303-1",
            "uniprot_ac": "P15303",
            "uniprot_id": "SEC23_YEAST",
            "refseq_ac": "NP_015507",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Saccharomyces cerevisiae S288C",
                    "taxid": 559292,
                    "common_name": "Baker's yeast",
                    "glygen_name": "Yeast",
                    "reference_species": "Saccharomyces cerevisiae S288C [559292]"
                }
            ],
            "protein_names": [
                {
                    "name": "Protein transport protein SEC23",
                    "type": "recommended"
                },
                {
                    "name": "GTPase-activating protein SEC23",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "SEC23",
                    "type": "recommended"
                },
                {
                    "name": "P9705.14",
                    "type": "synonym"
                },
                {
                    "name": "SEC23",
                    "type": "synonym"
                }
            ],
            "record_id": "P15303-1",
            "evidence": [
                {
                    "id": "0070307",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070307"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P38769-1",
            "uniprot_ac": "P38769",
            "uniprot_id": "NEL1_YEAST",
            "refseq_ac": "NP_011900",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Saccharomyces cerevisiae S288C",
                    "taxid": 559292,
                    "common_name": "Baker's yeast",
                    "glygen_name": "Yeast",
                    "reference_species": "Saccharomyces cerevisiae S288C [559292]"
                }
            ],
            "protein_names": [
                {
                    "name": "GTPase-activating protein NEL1",
                    "type": "recommended"
                },
                {
                    "name": "GTPase-activating protein NEL1",
                    "type": "synonym"
                },
                {
                    "name": "Non-ERES-localized SEC23 homolog 1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "NEL1",
                    "type": "recommended"
                },
                {
                    "name": "NEL1",
                    "type": "synonym"
                }
            ],
            "record_id": "P38769-1",
            "evidence": [
                {
                    "id": "0070307",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070307"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "B5DFC3-1",
            "uniprot_ac": "B5DFC3",
            "uniprot_id": "B5DFC3_RAT",
            "refseq_ac": "NP_001099202",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Protein transport protein SEC23",
                    "type": "recommended"
                },
                {
                    "name": "Sec23 homolog A, COPII coat complex component",
                    "type": "synonym"
                },
                {
                    "name": "Sec23 homolog A, coat complex II component",
                    "type": "synonym"
                },
                {
                    "name": "protein transport protein Sec23A isoform 1",
                    "type": "synonym"
                },
                {
                    "name": "protein transport protein Sec23A",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Sec23a",
                    "type": "recommended"
                },
                {
                    "name": "Sec23a",
                    "type": "synonym"
                }
            ],
            "record_id": "B5DFC3-1",
            "evidence": [
                {
                    "id": "0070307",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070307"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "A0A8I5ZKS5-1",
            "uniprot_ac": "A0A8I5ZKS5",
            "uniprot_id": "A0A8I5ZKS5_RAT",
            "refseq_ac": "NP_001264164",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Protein transport protein SEC23",
                    "type": "recommended"
                },
                {
                    "name": "Sec23 homolog B, COPII coat complex component",
                    "type": "synonym"
                },
                {
                    "name": "Sec23 homolog B, coat complex II component",
                    "type": "synonym"
                },
                {
                    "name": "protein transport protein Sec23B",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Sec23b",
                    "type": "recommended"
                },
                {
                    "name": "Sec23b",
                    "type": "synonym"
                }
            ],
            "record_id": "A0A8I5ZKS5-1",
            "evidence": [
                {
                    "id": "0070307",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070307"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "A0A0B4K5Z8-1",
            "uniprot_ac": "A0A0B4K5Z8",
            "uniprot_id": "A0A0B4K5Z8_DROME",
            "refseq_ac": "NP_001246932",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "Protein transport protein SEC23",
                    "type": "recommended"
                },
                {
                    "name": "CG1250-PE",
                    "type": "synonym"
                },
                {
                    "name": "Sec23 ortholog",
                    "type": "synonym"
                },
                {
                    "name": "Sec23-PE",
                    "type": "synonym"
                },
                {
                    "name": "coat protein II",
                    "type": "synonym"
                },
                {
                    "name": "dendritic arbor reduction 2",
                    "type": "synonym"
                },
                {
                    "name": "haunted",
                    "type": "synonym"
                },
                {
                    "name": "sec23",
                    "type": "synonym"
                },
                {
                    "name": "secretory 23, isoform E",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Sec23",
                    "type": "recommended"
                },
                {
                    "name": "CG1250",
                    "type": "synonym"
                },
                {
                    "name": "COPII",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG1250",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG1250",
                    "type": "synonym"
                },
                {
                    "name": "Hau",
                    "type": "synonym"
                },
                {
                    "name": "SEC23",
                    "type": "synonym"
                },
                {
                    "name": "Sec23A",
                    "type": "synonym"
                },
                {
                    "name": "Sec23p",
                    "type": "synonym"
                },
                {
                    "name": "Sec23",
                    "type": "synonym"
                },
                {
                    "name": "dSec23p",
                    "type": "synonym"
                },
                {
                    "name": "dSec23",
                    "type": "synonym"
                },
                {
                    "name": "dar2",
                    "type": "synonym"
                },
                {
                    "name": "dsec23p",
                    "type": "synonym"
                },
                {
                    "name": "dsec23",
                    "type": "synonym"
                },
                {
                    "name": "hau",
                    "type": "synonym"
                },
                {
                    "name": "sec23",
                    "type": "synonym"
                }
            ],
            "record_id": "A0A0B4K5Z8-1",
            "evidence": [
                {
                    "id": "0070307",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070307"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q15437-1",
            "uniprot_ac": "Q15437",
            "uniprot_id": "SC23B_HUMAN",
            "refseq_ac": "NP_001166216",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Protein transport protein Sec23B",
                    "type": "recommended"
                },
                {
                    "name": "SEC23 homolog B, COPII coat complex component",
                    "type": "synonym"
                },
                {
                    "name": "SEC23 homolog B, coat complex II component",
                    "type": "synonym"
                },
                {
                    "name": "SEC23-like protein B",
                    "type": "synonym"
                },
                {
                    "name": "SEC23-related protein B",
                    "type": "synonym"
                },
                {
                    "name": "hSec23B",
                    "type": "synonym"
                },
                {
                    "name": "protein transport protein Sec23B isoform 1",
                    "type": "synonym"
                },
                {
                    "name": "protein transport protein Sec23B",
                    "type": "synonym"
                },
                {
                    "name": "transport protein SEC23B",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "SEC23B",
                    "type": "recommended"
                },
                {
                    "name": "CDA-II",
                    "type": "synonym"
                },
                {
                    "name": "CDAII",
                    "type": "synonym"
                },
                {
                    "name": "CDAN2",
                    "type": "synonym"
                },
                {
                    "name": "CWS7",
                    "type": "synonym"
                },
                {
                    "name": "HEMPAS",
                    "type": "synonym"
                },
                {
                    "name": "SEC23B",
                    "type": "synonym"
                },
                {
                    "name": "hSec23B",
                    "type": "synonym"
                }
            ],
            "record_id": "Q15437-1",
            "evidence": [
                {
                    "id": "0070307",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070307"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0070307"
}