{
    "disease_id": "DOID:0070511",
    "recommended_name": {
        "id": "DOID:0070511",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0070511",
        "name": "polyhydramnios, megalencephaly, and symptomatic epilepsy",
        "description": "A syndrome characterized by polyhydramnios, distinctive craniofacial features, infantile-onset epilepsy, hypotonia, macrocephaly, and global developmental delay that has_material_basis_in homozygous mutation in the STRADA gene on chromosome 17q23.3."
    },
    "synonyms": [
        {
            "id": "DOID:0070511",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070511",
            "name": "PMSE",
            "description": ""
        },
        {
            "id": "DOID:0070511",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070511",
            "name": "PMSE syndrome",
            "description": ""
        },
        {
            "id": "DOID:0070511",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070511",
            "name": "Pretzel syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0012611",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012611",
            "name": "polyhydramnios, megalencephaly, and symptomatic epilepsy",
            "description": "A syndrome characterized by polyhydramnios, distinctive craniofacial features, infantile-onset epilepsy, hypotonia, macrocephaly, and global developmental delay that has material basis in homozygous mutation in the STRADA gene on chromosome 17q23.3."
        },
        {
            "id": "MONDO:0012611",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012611",
            "name": "PMSE syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0012611",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012611",
            "name": "polyhydramnios, megalencephaly, and symptomatic epilepsy",
            "description": ""
        },
        {
            "id": "MONDO:0012611",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012611",
            "name": "PMSE",
            "description": ""
        },
        {
            "id": "MONDO:0012611",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012611",
            "name": "polyhydramnios, megalencephaly, and symptomatic epilepsy syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0012611",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012611",
            "name": "pretzel syndrome",
            "description": ""
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0070511"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0070511",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070511",
            "categories": []
        },
        {
            "id": "MONDO:0012611",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012611",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "A0A8M9P4U0-1",
            "uniprot_ac": "A0A8M9P4U0",
            "uniprot_id": "A0A8M9P4U0_DANRE",
            "refseq_ac": "XP_021325312",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "STE20-related kinase adapter protein alpha",
                    "type": "recommended"
                },
                {
                    "name": "STE20-related adapter protein",
                    "type": "synonym"
                },
                {
                    "name": "STE20-related kinase adapter protein alpha isoform X1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "strada",
                    "type": "recommended"
                },
                {
                    "name": "fj99g05",
                    "type": "synonym"
                },
                {
                    "name": "strada",
                    "type": "synonym"
                },
                {
                    "name": "wu:fj99g05",
                    "type": "synonym"
                },
                {
                    "name": "zgc:56109",
                    "type": "synonym"
                }
            ],
            "record_id": "A0A8M9P4U0-1",
            "evidence": [
                {
                    "id": "0070511",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070511"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q3UUJ4-1",
            "uniprot_ac": "Q3UUJ4",
            "uniprot_id": "STRAA_MOUSE",
            "refseq_ac": "NP_001239377",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "STE20-related kinase adapter protein alpha",
                    "type": "recommended"
                },
                {
                    "name": "STE20-related adapter protein",
                    "type": "synonym"
                },
                {
                    "name": "STE20-related kinase adapter protein alpha isoform 1",
                    "type": "synonym"
                },
                {
                    "name": "STE20-related kinase adapter protein alpha",
                    "type": "synonym"
                },
                {
                    "name": "STRAD alpha",
                    "type": "synonym"
                },
                {
                    "name": "protein kinase LYK5",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Strada",
                    "type": "recommended"
                },
                {
                    "name": "2610019A05Rik",
                    "type": "synonym"
                },
                {
                    "name": "6030402H20Rik",
                    "type": "synonym"
                },
                {
                    "name": "E130112C09Rik",
                    "type": "synonym"
                },
                {
                    "name": "Lyk5",
                    "type": "synonym"
                },
                {
                    "name": "Strada",
                    "type": "synonym"
                },
                {
                    "name": "Strad",
                    "type": "synonym"
                }
            ],
            "record_id": "Q3UUJ4-1",
            "evidence": [
                {
                    "id": "0070511",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070511"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q7RTN6-1",
            "uniprot_ac": "Q7RTN6",
            "uniprot_id": "STRAA_HUMAN",
            "refseq_ac": "NP_001003786",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "STE20-related kinase adapter protein alpha",
                    "type": "recommended"
                },
                {
                    "name": "STE20-like pseudokinase",
                    "type": "synonym"
                },
                {
                    "name": "STE20-related adapter protein",
                    "type": "synonym"
                },
                {
                    "name": "STE20-related kinase adapter protein alpha isoform 2",
                    "type": "synonym"
                },
                {
                    "name": "STE20-related kinase adapter protein alpha",
                    "type": "synonym"
                },
                {
                    "name": "STE20-related kinase adaptor alpha",
                    "type": "synonym"
                },
                {
                    "name": "STRAD alpha",
                    "type": "synonym"
                },
                {
                    "name": "Serologically defined breast cancer antigen NY-BR-96",
                    "type": "synonym"
                },
                {
                    "name": "protein kinase LYK5",
                    "type": "synonym"
                },
                {
                    "name": "serologically defined breast cancer antigen NY-BR-96",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "STRADA",
                    "type": "recommended"
                },
                {
                    "name": "LYK5",
                    "type": "synonym"
                },
                {
                    "name": "NY-BR-96",
                    "type": "synonym"
                },
                {
                    "name": "PMSE",
                    "type": "synonym"
                },
                {
                    "name": "STLK5",
                    "type": "synonym"
                },
                {
                    "name": "STRAD alpha",
                    "type": "synonym"
                },
                {
                    "name": "STRADA",
                    "type": "synonym"
                },
                {
                    "name": "STRAD",
                    "type": "synonym"
                },
                {
                    "name": "Stlk",
                    "type": "synonym"
                }
            ],
            "record_id": "Q7RTN6-1",
            "evidence": [
                {
                    "id": "611087",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/611087"
                },
                {
                    "id": "0070511",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070511"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q7TNZ6-1",
            "uniprot_ac": "Q7TNZ6",
            "uniprot_id": "STRAA_RAT",
            "refseq_ac": "NP_877972",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "STE20-related kinase adapter protein alpha",
                    "type": "recommended"
                },
                {
                    "name": "STE20-related adapter protein",
                    "type": "synonym"
                },
                {
                    "name": "STE20-related kinase adapter protein alpha isoform 2",
                    "type": "synonym"
                },
                {
                    "name": "STE20-related kinase adapter protein alpha",
                    "type": "synonym"
                },
                {
                    "name": "STE20-related kinase adaptor alpha",
                    "type": "synonym"
                },
                {
                    "name": "STRAD alpha",
                    "type": "synonym"
                },
                {
                    "name": "protein kinase LYK5",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Strada",
                    "type": "recommended"
                },
                {
                    "name": "Lyk5",
                    "type": "synonym"
                },
                {
                    "name": "Strada",
                    "type": "synonym"
                },
                {
                    "name": "Strad",
                    "type": "synonym"
                }
            ],
            "record_id": "Q7TNZ6-1",
            "evidence": [
                {
                    "id": "0070511",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070511"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P83098-1",
            "uniprot_ac": "P83098",
            "uniprot_id": "STRA_DROME",
            "refseq_ac": "NP_001036442",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "STE20-related kinase adapter protein stlk",
                    "type": "recommended"
                },
                {
                    "name": "CG40293-PA",
                    "type": "synonym"
                },
                {
                    "name": "STRAD",
                    "type": "synonym"
                },
                {
                    "name": "Ste20-like kinase, isoform A",
                    "type": "synonym"
                },
                {
                    "name": "Ste20-like kinase",
                    "type": "synonym"
                },
                {
                    "name": "Stlk-PA",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Stlk",
                    "type": "recommended"
                },
                {
                    "name": "BcDNA:LD05623",
                    "type": "synonym"
                },
                {
                    "name": "CG40293",
                    "type": "synonym"
                },
                {
                    "name": "DmSTRADalpha",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG40293",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG40293",
                    "type": "synonym"
                },
                {
                    "name": "LD05623",
                    "type": "synonym"
                },
                {
                    "name": "STRADalpha",
                    "type": "synonym"
                },
                {
                    "name": "Stlk",
                    "type": "synonym"
                },
                {
                    "name": "stlk",
                    "type": "synonym"
                }
            ],
            "record_id": "P83098-1",
            "evidence": [
                {
                    "id": "0070511",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070511"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0070511"
}