{
    "disease_id": "DOID:0070047",
    "recommended_name": {
        "id": "DOID:0070047",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0070047",
        "name": "Schuurs-Hoeijmakers Syndrome",
        "description": "An autosomal dominant intellectual developmental disorder that has_material_basis_in an autosomal dominant mutation of the PACS1 gene on chromosome 11q13.1-q13.2."
    },
    "synonyms": [
        {
            "id": "DOID:0070047",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070047",
            "name": "MRD17",
            "description": ""
        },
        {
            "id": "DOID:0070047",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070047",
            "name": "SHMS",
            "description": ""
        },
        {
            "id": "DOID:0070047",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070047",
            "name": "autosomal dominant mental retardation 17",
            "description": ""
        },
        {
            "id": "MONDO:0014006",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014006",
            "name": "Schuurs-Hoeijmakers syndrome",
            "description": "Intellectual disability-craniofacial dysmorphism-cryptorchidism syndrome is a rare, genetic, syndromic intellectual disability syndrome characterized by mild to moderate intellectual disability, developmental delay (with speech and language development more severely affected) and facial dysmorphism which typically includes full, arched eyebrows, hypertelorism, down-slanting palpebral fissures, long eyelashes, ptosis, low-set, simple ears, bulbous nasal tip, flat philtrum, wide mouth with downturned corners and thin upper lip and diastema of the teeth. Association with infantile hypotonia, seizures, cryptorchidism in males and congenital abnormalities, including cardiac, cerebral or occular defects, may be observed."
        },
        {
            "id": "MONDO:0014006",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014006",
            "name": "MRD17",
            "description": ""
        },
        {
            "id": "MONDO:0014006",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014006",
            "name": "SHMS",
            "description": ""
        },
        {
            "id": "MONDO:0014006",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014006",
            "name": "Schuurs-Hoeijmakers syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0014006",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014006",
            "name": "autosomal dominant intellectual disability 17",
            "description": ""
        },
        {
            "id": "MONDO:0014006",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014006",
            "name": "intellectual disability, autosomal dominant type 17",
            "description": ""
        },
        {
            "id": "MONDO:0014006",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014006",
            "name": "intellectual disability-craniofacial dysmorphism-cryptorchidism syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0014006",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014006",
            "name": "mental retardation, autosomal dominant type 17",
            "description": ""
        },
        {
            "id": "MONDO:0014006",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014006",
            "name": "PACS1-related syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0014006",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014006",
            "name": "autosomal dominant intellectual disability-17",
            "description": ""
        },
        {
            "id": "MONDO:0014006",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014006",
            "name": "intellectual disability, autosomal dominant 17",
            "description": ""
        },
        {
            "id": "MONDO:0014006",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014006",
            "name": "mental retardation, autosomal dominant 17",
            "description": ""
        },
        {
            "id": "MIM:615009",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/615009",
            "name": "Schuurs-Hoeijmakers syndrome",
            "description": "Schuurs-Hoeijmakers syndrome"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0070047"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0070047",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070047",
            "categories": []
        },
        {
            "id": "MONDO:0014006",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014006",
            "categories": []
        },
        {
            "id": "MIM:615009",
            "database": "MIM",
            "url": "https://www.omim.org/entry/615009",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "Q8K212-1",
            "uniprot_ac": "Q8K212",
            "uniprot_id": "PACS1_MOUSE",
            "refseq_ac": "NP_694769",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Phosphofurin acidic cluster sorting protein 1",
                    "type": "recommended"
                },
                {
                    "name": "PACS-1",
                    "type": "synonym"
                },
                {
                    "name": "cytosolic sorting protein PACS-1",
                    "type": "synonym"
                },
                {
                    "name": "phosphofurin acidic cluster sorting protein 1 isoform 1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Pacs1",
                    "type": "recommended"
                },
                {
                    "name": "Pacs1",
                    "type": "synonym"
                }
            ],
            "record_id": "Q8K212-1",
            "evidence": [
                {
                    "id": "0070047",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070047"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q6VY07-1",
            "uniprot_ac": "Q6VY07",
            "uniprot_id": "PACS1_HUMAN",
            "refseq_ac": "NP_060496",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Phosphofurin acidic cluster sorting protein 1",
                    "type": "recommended"
                },
                {
                    "name": "PACS-1",
                    "type": "synonym"
                },
                {
                    "name": "cytosolic sorting protein PACS-1",
                    "type": "synonym"
                },
                {
                    "name": "phosphofurin acidic cluster sorting protein 1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "PACS1",
                    "type": "recommended"
                },
                {
                    "name": "KIAA1175",
                    "type": "synonym"
                },
                {
                    "name": "MRD17",
                    "type": "synonym"
                },
                {
                    "name": "PACS1",
                    "type": "synonym"
                },
                {
                    "name": "SHMS",
                    "type": "synonym"
                }
            ],
            "record_id": "Q6VY07-1",
            "evidence": [
                {
                    "id": "615009",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/615009"
                },
                {
                    "id": "0070047",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070047"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "O88588-1",
            "uniprot_ac": "O88588",
            "uniprot_id": "PACS1_RAT",
            "refseq_ac": "NP_599233",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Phosphofurin acidic cluster sorting protein 1",
                    "type": "recommended"
                },
                {
                    "name": "PACS-1",
                    "type": "synonym"
                },
                {
                    "name": "cytosolic sorting protein PACS-1",
                    "type": "synonym"
                },
                {
                    "name": "phosphofurin acidic cluster sorting protein 1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Pacs1",
                    "type": "recommended"
                },
                {
                    "name": "Pacs-1",
                    "type": "synonym"
                },
                {
                    "name": "Pacs1",
                    "type": "synonym"
                }
            ],
            "record_id": "O88588-1",
            "evidence": [
                {
                    "id": "0070047",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070047"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9VCE7-1",
            "uniprot_ac": "Q9VCE7",
            "uniprot_id": "Q9VCE7_DROME",
            "refseq_ac": "NP_524473",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "CG5405-PA",
                    "type": "synonym"
                },
                {
                    "name": "KrT95D-PA",
                    "type": "synonym"
                },
                {
                    "name": "Krueppel target at 95D, isoform A",
                    "type": "synonym"
                },
                {
                    "name": "Krueppel target at 95D, isoform B",
                    "type": "synonym"
                },
                {
                    "name": "krueppel target at 95D, isoform A",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Pacs",
                    "type": "recommended"
                },
                {
                    "name": "CG5405",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG5405",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG5405",
                    "type": "synonym"
                },
                {
                    "name": "KrT95D",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9VCE7-1",
            "evidence": [
                {
                    "id": "0070047",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070047"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0070047"
}