{
    "disease_id": "DOID:0111507",
    "recommended_name": {
        "id": "DOID:0111507",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0111507",
        "name": "Lenz-Majewski hyperostotic dwarfism",
        "description": "A syndrome characterized by intellectual disability, sclerosing bone dysplasia, distinct craniofacial, dental, cutaneous and distal-limb anomalies that has_material_basis_in heterozygous mutation in the PTDSS1 gene on chromosome 8q22.1."
    },
    "synonyms": [
        {
            "id": "DOID:0111507",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111507",
            "name": "Lenz-Majewski syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0007892",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007892",
            "name": "Lenz-Majewski hyperostotic dwarfism",
            "description": "Lenz-Majewski hyperostotic dwarfism is an extremely rare syndrome associating dwarfism, characteristic facial appearance, cutis laxa and progressive bone sclerosis."
        },
        {
            "id": "MONDO:0007892",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007892",
            "name": "Lenz-Majewski hyperostotic dwarfism",
            "description": ""
        },
        {
            "id": "MONDO:0007892",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007892",
            "name": "LMHD",
            "description": ""
        },
        {
            "id": "MONDO:0007892",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007892",
            "name": "Lenz Majewski hyperostotic dwarfism",
            "description": ""
        },
        {
            "id": "MONDO:0007892",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007892",
            "name": "Lenz-Majewski hyperostotic dysplasia",
            "description": ""
        },
        {
            "id": "MONDO:0007892",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007892",
            "name": "hyperostotic dwarfism Lenz-Majewski type",
            "description": ""
        },
        {
            "id": "MONDO:0007892",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007892",
            "name": "multiple congenital anomalies, intellectual disability and progressive skeletal sclerosis",
            "description": ""
        },
        {
            "id": "MONDO:0007892",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007892",
            "name": "multiple congenital anomalies, mental retardation and progressive skeletal sclerosis",
            "description": ""
        },
        {
            "id": "MIM:151050",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/151050",
            "name": "Lenz-Majewski hyperostotic dwarfism",
            "description": "Lenz-Majewski hyperostotic dwarfism"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0111507"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0111507",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111507",
            "categories": []
        },
        {
            "id": "MONDO:0007892",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007892",
            "categories": []
        },
        {
            "id": "MIM:151050",
            "database": "MIM",
            "url": "https://www.omim.org/entry/151050",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "Q803C9-1",
            "uniprot_ac": "Q803C9",
            "uniprot_id": "PTSS1_DANRE",
            "refseq_ac": "NP_957250",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Phosphatidylserine synthase 1",
                    "type": "recommended"
                },
                {
                    "name": "2.7.8.29",
                    "type": "synonym"
                },
                {
                    "name": "PSS-1",
                    "type": "synonym"
                },
                {
                    "name": "PtdSer synthase 1",
                    "type": "synonym"
                },
                {
                    "name": "Serine-exchange enzyme I",
                    "type": "synonym"
                },
                {
                    "name": "phosphatidylserine synthase 1",
                    "type": "synonym"
                },
                {
                    "name": "ptdSer synthase 1",
                    "type": "synonym"
                },
                {
                    "name": "serine-exchange enzyme I",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "ptdss1",
                    "type": "recommended"
                },
                {
                    "name": "PSS-1",
                    "type": "synonym"
                },
                {
                    "name": "ptdss1a",
                    "type": "synonym"
                },
                {
                    "name": "ptdss1",
                    "type": "synonym"
                },
                {
                    "name": "si:ch211-269k10",
                    "type": "synonym"
                },
                {
                    "name": "zgc:55906",
                    "type": "synonym"
                }
            ],
            "record_id": "Q803C9-1",
            "evidence": [
                {
                    "id": "0111507",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111507"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "A0A8N7T7D0-1",
            "uniprot_ac": "A0A8N7T7D0",
            "uniprot_id": "A0A8N7T7D0_DANRE",
            "refseq_ac": "XP_687872",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Phosphatidylserine synthase",
                    "type": "recommended"
                },
                {
                    "name": "2.7.8.29",
                    "type": "synonym"
                },
                {
                    "name": "Serine-exchange enzyme",
                    "type": "synonym"
                },
                {
                    "name": "phosphatidylserine synthase 1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "ptdss1b",
                    "type": "recommended"
                },
                {
                    "name": "ptdss1b",
                    "type": "synonym"
                }
            ],
            "record_id": "A0A8N7T7D0-1",
            "evidence": [
                {
                    "id": "0111507",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111507"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q99LH2-1",
            "uniprot_ac": "Q99LH2",
            "uniprot_id": "PTSS1_MOUSE",
            "refseq_ac": "NP_032985",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Phosphatidylserine synthase 1",
                    "type": "recommended"
                },
                {
                    "name": "2.7.8.29",
                    "type": "synonym"
                },
                {
                    "name": "PSS-1",
                    "type": "synonym"
                },
                {
                    "name": "PtdSer Synthase-1",
                    "type": "synonym"
                },
                {
                    "name": "PtdSer synthase 1",
                    "type": "synonym"
                },
                {
                    "name": "Serine-exchange enzyme I",
                    "type": "synonym"
                },
                {
                    "name": "phosphatidylserine synthase 1",
                    "type": "synonym"
                },
                {
                    "name": "ptdSer synthase 1",
                    "type": "synonym"
                },
                {
                    "name": "serine-exchange enzyme I",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Ptdss1",
                    "type": "recommended"
                },
                {
                    "name": "PSS-1",
                    "type": "synonym"
                },
                {
                    "name": "Pssa",
                    "type": "synonym"
                },
                {
                    "name": "Ptdss1",
                    "type": "synonym"
                },
                {
                    "name": "mKIAA0024",
                    "type": "synonym"
                }
            ],
            "record_id": "Q99LH2-1",
            "evidence": [
                {
                    "id": "0111507",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111507"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P48651-1",
            "uniprot_ac": "P48651",
            "uniprot_id": "PTSS1_HUMAN",
            "refseq_ac": "NP_001277154",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Phosphatidylserine synthase 1",
                    "type": "recommended"
                },
                {
                    "name": "2.7.8.29",
                    "type": "synonym"
                },
                {
                    "name": "PSS-1",
                    "type": "synonym"
                },
                {
                    "name": "PtdSer synthase 1",
                    "type": "synonym"
                },
                {
                    "name": "Serine-exchange enzyme I",
                    "type": "synonym"
                },
                {
                    "name": "phosphatidylserine synthase 1 isoform 2",
                    "type": "synonym"
                },
                {
                    "name": "ptdSer synthase 1",
                    "type": "synonym"
                },
                {
                    "name": "serine-exchange enzyme I",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "PTDSS1",
                    "type": "recommended"
                },
                {
                    "name": "KIAA0024",
                    "type": "synonym"
                },
                {
                    "name": "LMHD",
                    "type": "synonym"
                },
                {
                    "name": "PSS1",
                    "type": "synonym"
                },
                {
                    "name": "PSSA",
                    "type": "synonym"
                },
                {
                    "name": "PTDSS1",
                    "type": "synonym"
                }
            ],
            "record_id": "P48651-1",
            "evidence": [
                {
                    "id": "151050",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/151050"
                },
                {
                    "id": "0111507",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111507"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q5PQL5-1",
            "uniprot_ac": "Q5PQL5",
            "uniprot_id": "PTSS1_RAT",
            "refseq_ac": "NP_001012113",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Phosphatidylserine synthase 1",
                    "type": "recommended"
                },
                {
                    "name": "2.7.8.29",
                    "type": "synonym"
                },
                {
                    "name": "PSS-1",
                    "type": "synonym"
                },
                {
                    "name": "PtdSer synthase 1",
                    "type": "synonym"
                },
                {
                    "name": "Serine-exchange enzyme I",
                    "type": "synonym"
                },
                {
                    "name": "phosphatidylserine synthase 1",
                    "type": "synonym"
                },
                {
                    "name": "ptdSer synthase 1",
                    "type": "synonym"
                },
                {
                    "name": "serine-exchange enzyme I",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Ptdss1",
                    "type": "recommended"
                },
                {
                    "name": "PSS-1",
                    "type": "synonym"
                },
                {
                    "name": "Ptdss1",
                    "type": "synonym"
                }
            ],
            "record_id": "Q5PQL5-1",
            "evidence": [
                {
                    "id": "0111507",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111507"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9VPD3-1",
            "uniprot_ac": "Q9VPD3",
            "uniprot_id": "PTSS_DROME",
            "refseq_ac": "NP_001262118",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "Phosphatidylserine synthase",
                    "type": "recommended"
                },
                {
                    "name": "2.7.8.29",
                    "type": "synonym"
                },
                {
                    "name": "CDP-diacylglycerol-serine O-phosphatidyltransferase",
                    "type": "synonym"
                },
                {
                    "name": "CG4825-PB",
                    "type": "synonym"
                },
                {
                    "name": "Pss-PB",
                    "type": "synonym"
                },
                {
                    "name": "lethal (3) 77CDf",
                    "type": "synonym"
                },
                {
                    "name": "phosphatidylserine synthase, isoform B",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Pss",
                    "type": "recommended"
                },
                {
                    "name": "CG4825",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG4825",
                    "type": "synonym"
                },
                {
                    "name": "Pss",
                    "type": "synonym"
                },
                {
                    "name": "l(3)04521",
                    "type": "synonym"
                },
                {
                    "name": "l(3)77CDf",
                    "type": "synonym"
                },
                {
                    "name": "pss",
                    "type": "synonym"
                },
                {
                    "name": "ptdss1",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9VPD3-1",
            "evidence": [
                {
                    "id": "0111507",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111507"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0111507"
}