{
    "disease_id": "DOID:0111373",
    "recommended_name": {
        "id": "DOID:0111373",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0111373",
        "name": "familial progressive hyperpigmentation with or without hypopigmentation",
        "description": "A skin disease characterized by progressive, diffuse hyperpigmentation of variable intensity sometimes associated with cafe-au-lait macules and larger hypopigmented ash-leaf macules that has_material_basis_in heterozygous mutation in the KITLG gene on chromosome 12q21.32."
    },
    "synonyms": [
        {
            "id": "DOID:0111373",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111373",
            "name": "FPHH",
            "description": ""
        },
        {
            "id": "DOID:0111373",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111373",
            "name": "MUH",
            "description": ""
        },
        {
            "id": "DOID:0111373",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111373",
            "name": "melanosis universalis hereditaria",
            "description": ""
        },
        {
            "id": "MONDO:0007771",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007771",
            "name": "hyperpigmentation with or without hypopigmentation, familial progressive",
            "description": ""
        },
        {
            "id": "MONDO:0007771",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007771",
            "name": "hyperpigmentation with or without hypopigmentation",
            "description": ""
        },
        {
            "id": "MONDO:0007771",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007771",
            "name": "hyperpigmentation with or without hypopigmentation, familial progressive",
            "description": ""
        },
        {
            "id": "MONDO:0007771",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007771",
            "name": "macules, hereditary congenital hypopigmented and hyperpigmented",
            "description": ""
        },
        {
            "id": "MONDO:0007771",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007771",
            "name": "melanosis, universal",
            "description": ""
        },
        {
            "id": "MONDO:0007771",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007771",
            "name": "FPHH",
            "description": ""
        },
        {
            "id": "MONDO:0007771",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007771",
            "name": "hyperpigmentation, familial progressive, 2",
            "description": ""
        },
        {
            "id": "MIM:145250",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/145250",
            "name": "Hyperpigmentation with or without hypopigmentation, familial progressive",
            "description": "Hyperpigmentation with or without hypopigmentation, familial progressive"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0111373"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0111373",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111373",
            "categories": []
        },
        {
            "id": "MONDO:0007771",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007771",
            "categories": []
        },
        {
            "id": "MIM:145250",
            "database": "MIM",
            "url": "https://www.omim.org/entry/145250",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "P20826-1",
            "uniprot_ac": "P20826",
            "uniprot_id": "SCF_MOUSE",
            "refseq_ac": "NP_001334085",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Kit ligand",
                    "type": "recommended"
                },
                {
                    "name": "C-kit ligand",
                    "type": "synonym"
                },
                {
                    "name": "Hematopoietic growth factor KL",
                    "type": "synonym"
                },
                {
                    "name": "MGF",
                    "type": "synonym"
                },
                {
                    "name": "Mast cell growth factor",
                    "type": "synonym"
                },
                {
                    "name": "SCF",
                    "type": "synonym"
                },
                {
                    "name": "Steel factor",
                    "type": "synonym"
                },
                {
                    "name": "Stem cell factor",
                    "type": "synonym"
                },
                {
                    "name": "c-Kit ligand",
                    "type": "synonym"
                },
                {
                    "name": "cloud gray",
                    "type": "synonym"
                },
                {
                    "name": "grizzle-belly",
                    "type": "synonym"
                },
                {
                    "name": "hematopoietic growth factor KL",
                    "type": "synonym"
                },
                {
                    "name": "kit ligand isoform 2 precursor",
                    "type": "synonym"
                },
                {
                    "name": "mast cell growth factor",
                    "type": "synonym"
                },
                {
                    "name": "stem cell factor",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Kitlg",
                    "type": "recommended"
                },
                {
                    "name": "Kitl",
                    "type": "recommended"
                },
                {
                    "name": "Clo",
                    "type": "synonym"
                },
                {
                    "name": "Con",
                    "type": "synonym"
                },
                {
                    "name": "Gb",
                    "type": "synonym"
                },
                {
                    "name": "Kitlg",
                    "type": "synonym"
                },
                {
                    "name": "Kitl",
                    "type": "synonym"
                },
                {
                    "name": "Mgf",
                    "type": "synonym"
                },
                {
                    "name": "SCF",
                    "type": "synonym"
                },
                {
                    "name": "SF",
                    "type": "synonym"
                },
                {
                    "name": "SLF",
                    "type": "synonym"
                },
                {
                    "name": "Slf",
                    "type": "synonym"
                },
                {
                    "name": "Sl",
                    "type": "synonym"
                },
                {
                    "name": "blz",
                    "type": "synonym"
                },
                {
                    "name": "contrasted",
                    "type": "synonym"
                }
            ],
            "record_id": "P20826-1",
            "evidence": [
                {
                    "id": "0111373",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111373"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P21583-1",
            "uniprot_ac": "P21583",
            "uniprot_id": "SCF_HUMAN",
            "refseq_ac": "NP_000890",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Kit ligand",
                    "type": "recommended"
                },
                {
                    "name": "MGF",
                    "type": "synonym"
                },
                {
                    "name": "Mast cell growth factor",
                    "type": "synonym"
                },
                {
                    "name": "SCF",
                    "type": "synonym"
                },
                {
                    "name": "Stem cell factor",
                    "type": "synonym"
                },
                {
                    "name": "c-Kit ligand",
                    "type": "synonym"
                },
                {
                    "name": "familial progressive hyperpigmentation 2",
                    "type": "synonym"
                },
                {
                    "name": "kit ligand isoform b precursor",
                    "type": "synonym"
                },
                {
                    "name": "mast cell growth factor",
                    "type": "synonym"
                },
                {
                    "name": "steel factor",
                    "type": "synonym"
                },
                {
                    "name": "stem cell factor",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "KITLG",
                    "type": "recommended"
                },
                {
                    "name": "DCUA",
                    "type": "synonym"
                },
                {
                    "name": "DFNA69",
                    "type": "synonym"
                },
                {
                    "name": "FPH2",
                    "type": "synonym"
                },
                {
                    "name": "FPHH",
                    "type": "synonym"
                },
                {
                    "name": "KITLG",
                    "type": "synonym"
                },
                {
                    "name": "KL-1",
                    "type": "synonym"
                },
                {
                    "name": "Kitl",
                    "type": "synonym"
                },
                {
                    "name": "MGF",
                    "type": "synonym"
                },
                {
                    "name": "SCF",
                    "type": "synonym"
                },
                {
                    "name": "SF",
                    "type": "synonym"
                },
                {
                    "name": "SHEP7",
                    "type": "synonym"
                },
                {
                    "name": "SLF",
                    "type": "synonym"
                },
                {
                    "name": "WS2F",
                    "type": "synonym"
                }
            ],
            "record_id": "P21583-1",
            "evidence": [
                {
                    "id": "145250",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/145250"
                },
                {
                    "id": "0111373",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111373"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P21581-1",
            "uniprot_ac": "P21581",
            "uniprot_id": "SCF_RAT",
            "refseq_ac": "NP_068615",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Kit ligand",
                    "type": "recommended"
                },
                {
                    "name": "C-kit ligand",
                    "type": "synonym"
                },
                {
                    "name": "Hematopoietic growth factor KL",
                    "type": "synonym"
                },
                {
                    "name": "MGF",
                    "type": "synonym"
                },
                {
                    "name": "Mast cell growth factor",
                    "type": "synonym"
                },
                {
                    "name": "SCF",
                    "type": "synonym"
                },
                {
                    "name": "Stem cell factor",
                    "type": "synonym"
                },
                {
                    "name": "c-Kit ligand",
                    "type": "synonym"
                },
                {
                    "name": "hematopoietic growth factor KL",
                    "type": "synonym"
                },
                {
                    "name": "kit ligand isoform 1 precursor",
                    "type": "synonym"
                },
                {
                    "name": "mast cell growth factor",
                    "type": "synonym"
                },
                {
                    "name": "steel factor/kit ligand",
                    "type": "synonym"
                },
                {
                    "name": "stem cell factor KL-1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Kitlg",
                    "type": "recommended"
                },
                {
                    "name": "Kitlg",
                    "type": "synonym"
                },
                {
                    "name": "Kitl",
                    "type": "synonym"
                },
                {
                    "name": "Mgf",
                    "type": "synonym"
                },
                {
                    "name": "SCF",
                    "type": "synonym"
                }
            ],
            "record_id": "P21581-1",
            "evidence": [
                {
                    "id": "0111373",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111373"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "O14641-1",
            "uniprot_ac": "O14641",
            "uniprot_id": "DVL2_HUMAN",
            "refseq_ac": "NP_004413",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Segment polarity protein dishevelled homolog DVL-2",
                    "type": "recommended"
                },
                {
                    "name": "DSH homolog 2",
                    "type": "synonym"
                },
                {
                    "name": "Dishevelled-2",
                    "type": "synonym"
                },
                {
                    "name": "dishevelled 2 (homologous to Drosophila dsh)",
                    "type": "synonym"
                },
                {
                    "name": "dishevelled, dsh homolog 2",
                    "type": "synonym"
                },
                {
                    "name": "segment polarity protein dishevelled homolog DVL-2",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "DVL2",
                    "type": "recommended"
                },
                {
                    "name": "DVL2",
                    "type": "synonym"
                }
            ],
            "record_id": "O14641-1",
            "evidence": [
                {
                    "id": "0111373",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111373"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0111373"
}