{
    "disease_id": "DOID:0061019",
    "recommended_name": {
        "id": "DOID:0061019",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0061019",
        "name": "combined or isolated pituitary hormone deficiency 1",
        "description": "A combined pituitary hormone deficiency that has_material_basis_in homozygous, compound heterozygous, or heterozygous mutation in the POU1F1 gene on chromosome 3p11."
    },
    "synonyms": [
        {
            "id": "DOID:0061019",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0061019",
            "name": "CPHD1",
            "description": ""
        },
        {
            "id": "MONDO:0024464",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0024464",
            "name": "pituitary hormone deficiency, combined, 1",
            "description": "Any combined pituitary hormone deficiencies, genetic form in which the cause of the disease is a mutation in the POU1F1 gene."
        },
        {
            "id": "MONDO:0024464",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0024464",
            "name": "CPHD1",
            "description": ""
        },
        {
            "id": "MONDO:0024464",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0024464",
            "name": "POU1F1 combined pituitary hormone deficiencies, genetic form",
            "description": ""
        },
        {
            "id": "MONDO:0024464",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0024464",
            "name": "combined pituitary hormone deficiencies, genetic form caused by mutation in POU1F1",
            "description": ""
        },
        {
            "id": "MONDO:0024464",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0024464",
            "name": "pituitary hormone deficiency, combined or isolated, 1",
            "description": ""
        },
        {
            "id": "MONDO:0024464",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0024464",
            "name": "pituitary hormone deficiency, combined, 1",
            "description": ""
        },
        {
            "id": "MONDO:0024464",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0024464",
            "name": "pituitary hormone deficiency, combined 1",
            "description": ""
        },
        {
            "id": "MIM:613038",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/613038",
            "name": "Pituitary hormone deficiency, combined, 1",
            "description": "Pituitary hormone deficiency, combined, 1"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0061019"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0061019",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0061019",
            "categories": []
        },
        {
            "id": "MONDO:0024464",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0024464",
            "categories": []
        },
        {
            "id": "MIM:613038",
            "database": "MIM",
            "url": "https://www.omim.org/entry/613038",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "Q00286-1",
            "uniprot_ac": "Q00286",
            "uniprot_id": "PIT1_MOUSE",
            "refseq_ac": "NP_032875",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Pituitary-specific positive transcription factor 1",
                    "type": "recommended"
                },
                {
                    "name": "GHF-1",
                    "type": "synonym"
                },
                {
                    "name": "Growth hormone factor 1",
                    "type": "synonym"
                },
                {
                    "name": "PIT-1",
                    "type": "synonym"
                },
                {
                    "name": "POU domain, class 1, transcription factor 1 (Pit1, growth hormone factor 1)",
                    "type": "synonym"
                },
                {
                    "name": "pituitary specific transcription factor 1, related sequence 1",
                    "type": "synonym"
                },
                {
                    "name": "pituitary-specific positive transcription factor 1 isoform a",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Pou1f1",
                    "type": "recommended"
                },
                {
                    "name": "GHF-1",
                    "type": "synonym"
                },
                {
                    "name": "Hmp1",
                    "type": "synonym"
                },
                {
                    "name": "Pit-1",
                    "type": "synonym"
                },
                {
                    "name": "Pit1-rs1",
                    "type": "synonym"
                },
                {
                    "name": "Pit1",
                    "type": "synonym"
                },
                {
                    "name": "Pou1f1",
                    "type": "synonym"
                },
                {
                    "name": "dwarf",
                    "type": "synonym"
                },
                {
                    "name": "dw",
                    "type": "synonym"
                }
            ],
            "record_id": "Q00286-1",
            "evidence": [
                {
                    "id": "0061019",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0061019"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P28069-1",
            "uniprot_ac": "P28069",
            "uniprot_id": "PIT1_HUMAN",
            "refseq_ac": "NP_000297",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Pituitary-specific positive transcription factor 1",
                    "type": "recommended"
                },
                {
                    "name": "GHF-1",
                    "type": "synonym"
                },
                {
                    "name": "Growth hormone factor 1",
                    "type": "synonym"
                },
                {
                    "name": "PIT-1",
                    "type": "synonym"
                },
                {
                    "name": "POU domain, class 1, transcription factor 1",
                    "type": "synonym"
                },
                {
                    "name": "growth hormone factor 1",
                    "type": "synonym"
                },
                {
                    "name": "pituitary transcript factor 1",
                    "type": "synonym"
                },
                {
                    "name": "pituitary-specific positive transcription factor 1 isoform alpha",
                    "type": "synonym"
                },
                {
                    "name": "pituitary-specific positive transcription factor 1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "POU1F1",
                    "type": "recommended"
                },
                {
                    "name": "CPHD1",
                    "type": "synonym"
                },
                {
                    "name": "GHF-1",
                    "type": "synonym"
                },
                {
                    "name": "GHF1",
                    "type": "synonym"
                },
                {
                    "name": "PIT1",
                    "type": "synonym"
                },
                {
                    "name": "POU1F1a",
                    "type": "synonym"
                },
                {
                    "name": "POU1F1",
                    "type": "synonym"
                },
                {
                    "name": "Pit-1",
                    "type": "synonym"
                }
            ],
            "record_id": "P28069-1",
            "evidence": [
                {
                    "id": "613038",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/613038"
                },
                {
                    "id": "0061019",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0061019"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P10037-1",
            "uniprot_ac": "P10037",
            "uniprot_id": "PIT1_RAT",
            "refseq_ac": "XP_006248036",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Pituitary-specific positive transcription factor 1",
                    "type": "recommended"
                },
                {
                    "name": "GHF-1",
                    "type": "synonym"
                },
                {
                    "name": "Growth hormone factor 1",
                    "type": "synonym"
                },
                {
                    "name": "PIT-1",
                    "type": "synonym"
                },
                {
                    "name": "pituitary-specific positive transcription factor 1 isoform X1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Pou1f1",
                    "type": "recommended"
                },
                {
                    "name": "GHF1A",
                    "type": "synonym"
                },
                {
                    "name": "GHF1",
                    "type": "synonym"
                },
                {
                    "name": "Ghf-1",
                    "type": "synonym"
                },
                {
                    "name": "PIT1Z",
                    "type": "synonym"
                },
                {
                    "name": "Pit-1",
                    "type": "synonym"
                },
                {
                    "name": "Pit1",
                    "type": "synonym"
                },
                {
                    "name": "Pou1f1",
                    "type": "synonym"
                }
            ],
            "record_id": "P10037-1",
            "evidence": [
                {
                    "id": "0061019",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0061019"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "O75356-1",
            "uniprot_ac": "O75356",
            "uniprot_id": "ENTP5_HUMAN",
            "refseq_ac": "NP_001240",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Nucleoside diphosphate phosphatase ENTPD5",
                    "type": "recommended"
                },
                {
                    "name": "3.6.1.6",
                    "type": "synonym"
                },
                {
                    "name": "CD39 antigen-like 4",
                    "type": "synonym"
                },
                {
                    "name": "CD39-like 4",
                    "type": "synonym"
                },
                {
                    "name": "ER-UDPase",
                    "type": "synonym"
                },
                {
                    "name": "Ectonucleoside triphosphate diphosphohydrolase 5",
                    "type": "synonym"
                },
                {
                    "name": "GDPase ENTPD5",
                    "type": "synonym"
                },
                {
                    "name": "Guanosine-diphosphatase ENTPD5",
                    "type": "synonym"
                },
                {
                    "name": "Inosine diphosphate phosphatase ENTPD5",
                    "type": "synonym"
                },
                {
                    "name": "NTPDase 5",
                    "type": "synonym"
                },
                {
                    "name": "Nucleoside diphosphatase",
                    "type": "synonym"
                },
                {
                    "name": "Pcph proto-oncogene protein",
                    "type": "synonym"
                },
                {
                    "name": "UDPase ENTPD5",
                    "type": "synonym"
                },
                {
                    "name": "Uridine-diphosphatase ENTPD5",
                    "type": "synonym"
                },
                {
                    "name": "guanosine-diphosphatase ENTPD5",
                    "type": "synonym"
                },
                {
                    "name": "inosine diphosphate phosphatase ENTPD5",
                    "type": "synonym"
                },
                {
                    "name": "nucleoside diphosphatase",
                    "type": "synonym"
                },
                {
                    "name": "nucleoside diphosphate phosphatase ENTPD5 isoform 1 precursor",
                    "type": "synonym"
                },
                {
                    "name": "nucleoside diphosphate phosphatase ENTPD5",
                    "type": "synonym"
                },
                {
                    "name": "proto-oncogene CPH",
                    "type": "synonym"
                },
                {
                    "name": "uridine-diphosphatase ENTPD5",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "ENTPD5",
                    "type": "recommended"
                },
                {
                    "name": "CD39L4",
                    "type": "synonym"
                },
                {
                    "name": "ENTPD5",
                    "type": "synonym"
                },
                {
                    "name": "NTPDase-5",
                    "type": "synonym"
                },
                {
                    "name": "PCPH",
                    "type": "synonym"
                }
            ],
            "record_id": "O75356-1",
            "evidence": [
                {
                    "id": "0061019",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0061019"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0061019"
}