{
    "disease_id": "DOID:0060337",
    "recommended_name": {
        "id": "DOID:0060337",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0060337",
        "name": "CEDNIK syndrome",
        "description": "A syndrome that has_material_basis_in homozygous mutation in the SNAP29 gene and characterized by a unique constellation of clinical manifestations including microcephaly, severe neurologic impairment, psychomotor retardation, failure to thrive, facial dysmoprhism, palmoplantar keratoderma and late-onset ichthyosis."
    },
    "synonyms": [
        {
            "id": "DOID:0060337",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0060337",
            "name": "cerebral dysgenesis, neuropathy, ichthyosis and keratoderma syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0012290",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012290",
            "name": "CEDNIK syndrome",
            "description": "CEDNIK syndrome is a neurocutaneaous syndrome characterized by severe developmental abnormalities of the nervous system and aberrant differentiation of the epidermis."
        },
        {
            "id": "MONDO:0012290",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012290",
            "name": "CEDNIK syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0012290",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012290",
            "name": "cerebral dysgenesis-neuropathy-ichthyosis-palmoplantar keratoderma syndrome",
            "description": ""
        },
        {
            "id": "MIM:609528",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/609528",
            "name": "Cerebral dysgenesis, neuropathy, ichthyosis, and palmoplantar keratoderma syndrome",
            "description": "Cerebral dysgenesis, neuropathy, ichthyosis, and palmoplantar keratoderma syndrome"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0060337"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0060337",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0060337",
            "categories": []
        },
        {
            "id": "MONDO:0012290",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012290",
            "categories": []
        },
        {
            "id": "MIM:609528",
            "database": "MIM",
            "url": "https://www.omim.org/entry/609528",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "A0A8M1NZG6-1",
            "uniprot_ac": "A0A8M1NZG6",
            "uniprot_id": "A0A8M1NZG6_DANRE",
            "refseq_ac": "NP_001243185",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Synaptosomal-associated protein 29",
                    "type": "recommended"
                },
                {
                    "name": "Soluble 29 kDa NSF attachment protein",
                    "type": "synonym"
                },
                {
                    "name": "Vesicle-membrane fusion protein SNAP-29",
                    "type": "synonym"
                },
                {
                    "name": "synaptosomal-associated protein 29",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "snap29",
                    "type": "recommended"
                },
                {
                    "name": "fc84f09",
                    "type": "synonym"
                },
                {
                    "name": "im:7145101",
                    "type": "synonym"
                },
                {
                    "name": "si:dkey-178e17.4",
                    "type": "synonym"
                },
                {
                    "name": "snap29",
                    "type": "synonym"
                },
                {
                    "name": "wu:fc84f09",
                    "type": "synonym"
                }
            ],
            "record_id": "A0A8M1NZG6-1",
            "evidence": [
                {
                    "id": "0060337",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060337"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9ERB0-1",
            "uniprot_ac": "Q9ERB0",
            "uniprot_id": "SNP29_MOUSE",
            "refseq_ac": "NP_075837",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Synaptosomal-associated protein 29",
                    "type": "recommended"
                },
                {
                    "name": "Golgi SNARE of 32 kDa",
                    "type": "synonym"
                },
                {
                    "name": "Gs32",
                    "type": "synonym"
                },
                {
                    "name": "SNAP-29",
                    "type": "synonym"
                },
                {
                    "name": "Soluble 29 kDa NSF attachment protein",
                    "type": "synonym"
                },
                {
                    "name": "Vesicle-membrane fusion protein SNAP-29",
                    "type": "synonym"
                },
                {
                    "name": "golgi SNARE of 32 kDa",
                    "type": "synonym"
                },
                {
                    "name": "soluble 29 kDa NSF attachment protein",
                    "type": "synonym"
                },
                {
                    "name": "synaptosomal-associated protein 29",
                    "type": "synonym"
                },
                {
                    "name": "vesicle-membrane fusion protein SNAP-29",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Snap29",
                    "type": "recommended"
                },
                {
                    "name": "1300018G05Rik",
                    "type": "synonym"
                },
                {
                    "name": "Gs32",
                    "type": "synonym"
                },
                {
                    "name": "Snap29",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9ERB0-1",
            "evidence": [
                {
                    "id": "0060337",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060337"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "O95721-1",
            "uniprot_ac": "O95721",
            "uniprot_id": "SNP29_HUMAN",
            "refseq_ac": "NP_004773",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Synaptosomal-associated protein 29",
                    "type": "recommended"
                },
                {
                    "name": "SNAP-29",
                    "type": "synonym"
                },
                {
                    "name": "Soluble 29 kDa NSF attachment protein",
                    "type": "synonym"
                },
                {
                    "name": "Vesicle-membrane fusion protein SNAP-29",
                    "type": "synonym"
                },
                {
                    "name": "cerebral dysgenesis, neuropathy, ichthyosis and keratoderma syndrome",
                    "type": "synonym"
                },
                {
                    "name": "soluble 29 kDa NSF attachment protein",
                    "type": "synonym"
                },
                {
                    "name": "synaptosomal-associated protein 29",
                    "type": "synonym"
                },
                {
                    "name": "synaptosomal-associated protein, 29kDa",
                    "type": "synonym"
                },
                {
                    "name": "synaptosomal-associated protein, 29kD",
                    "type": "synonym"
                },
                {
                    "name": "synaptosome associated protein 29kDa",
                    "type": "synonym"
                },
                {
                    "name": "vesicle-membrane fusion protein SNAP-29",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "SNAP29",
                    "type": "recommended"
                },
                {
                    "name": "CEDNIK",
                    "type": "synonym"
                },
                {
                    "name": "SNAP-29",
                    "type": "synonym"
                },
                {
                    "name": "SNAP29",
                    "type": "synonym"
                }
            ],
            "record_id": "O95721-1",
            "evidence": [
                {
                    "id": "609528",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/609528"
                },
                {
                    "id": "0060337",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060337"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q04359-1",
            "uniprot_ac": "Q04359",
            "uniprot_id": "SPO20_YEAST",
            "refseq_ac": "NP_013730",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Saccharomyces cerevisiae S288C",
                    "taxid": 559292,
                    "common_name": "Baker's yeast",
                    "glygen_name": "Yeast",
                    "reference_species": "Saccharomyces cerevisiae S288C [559292]"
                }
            ],
            "protein_names": [
                {
                    "name": "Sporulation-specific protein 20",
                    "type": "recommended"
                },
                {
                    "name": "Spo20p",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "SPO20",
                    "type": "recommended"
                },
                {
                    "name": "DBI9",
                    "type": "synonym"
                },
                {
                    "name": "SPO20",
                    "type": "synonym"
                },
                {
                    "name": "YM9711.05",
                    "type": "synonym"
                }
            ],
            "record_id": "Q04359-1",
            "evidence": [
                {
                    "id": "0060337",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060337"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P40357-1",
            "uniprot_ac": "P40357",
            "uniprot_id": "SEC9_YEAST",
            "refseq_ac": "NP_011523",
            "glycoprotein": "yes",
            "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 SEC9",
                    "type": "recommended"
                },
                {
                    "name": "Sec9p",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "SEC9",
                    "type": "recommended"
                },
                {
                    "name": "HSS7",
                    "type": "synonym"
                },
                {
                    "name": "SEC9",
                    "type": "synonym"
                }
            ],
            "record_id": "P40357-1",
            "evidence": [
                {
                    "id": "0060337",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060337"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9Z2P6-1",
            "uniprot_ac": "Q9Z2P6",
            "uniprot_id": "SNP29_RAT",
            "refseq_ac": "",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Synaptosomal-associated protein 29",
                    "type": "recommended"
                },
                {
                    "name": "Golgi SNARE of 32 kDa",
                    "type": "synonym"
                },
                {
                    "name": "Gs32",
                    "type": "synonym"
                },
                {
                    "name": "SNAP-29",
                    "type": "synonym"
                },
                {
                    "name": "Soluble 29 kDa NSF attachment protein",
                    "type": "synonym"
                },
                {
                    "name": "Vesicle-membrane fusion protein SNAP-29",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Snap29",
                    "type": "recommended"
                }
            ],
            "record_id": "Q9Z2P6-1",
            "evidence": [
                {
                    "id": "0060337",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060337"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9W1I8-1",
            "uniprot_ac": "Q9W1I8",
            "uniprot_id": "Q9W1I8_DROME",
            "refseq_ac": "NP_523831",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "CG11173-PA",
                    "type": "synonym"
                },
                {
                    "name": "Snap29-PA",
                    "type": "synonym"
                },
                {
                    "name": "Synaptosomal-associated protein 29kDa",
                    "type": "synonym"
                },
                {
                    "name": "ubisnap",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Snap29",
                    "type": "recommended"
                },
                {
                    "name": "CG11173",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG11173",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG11173",
                    "type": "synonym"
                },
                {
                    "name": "MENE (2R)-E",
                    "type": "synonym"
                },
                {
                    "name": "MENE(2R)-E",
                    "type": "synonym"
                },
                {
                    "name": "SNAP-29",
                    "type": "synonym"
                },
                {
                    "name": "SNAP29",
                    "type": "synonym"
                },
                {
                    "name": "Snap29",
                    "type": "synonym"
                },
                {
                    "name": "Ubisnap",
                    "type": "synonym"
                },
                {
                    "name": "Usnp",
                    "type": "synonym"
                },
                {
                    "name": "dSNAP-29",
                    "type": "synonym"
                },
                {
                    "name": "snap29",
                    "type": "synonym"
                },
                {
                    "name": "ubisnap",
                    "type": "synonym"
                },
                {
                    "name": "usnp",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9W1I8-1",
            "evidence": [
                {
                    "id": "0060337",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060337"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0060337"
}