{
    "disease_id": "DOID:0050604",
    "recommended_name": {
        "id": "DOID:0050604",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0050604",
        "name": "acrocapitofemoral dysplasia",
        "description": "An osteochondrodysplasia characterized by postnatal-onset disproportionate short stature, relatively large head, narrow thorax, lumbar lordosis, short limbs, and brachydactyly with small broad nails and that has_material_basis_in homozygous mutation in the Indian hedgehog homolog (IHH) gene on chromosome 2q35."
    },
    "synonyms": [
        {
            "id": "MONDO:0011907",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011907",
            "name": "acrocapitofemoral dysplasia",
            "description": "Acrocapitofemoral dysplasia is a recently delineated skeletal dysplasia, characterized clinically by short stature of variable degrees with short limbs, brachydactyly and narrow thorax."
        },
        {
            "id": "MONDO:0011907",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011907",
            "name": "acrocapitofemoral dysplasia",
            "description": ""
        },
        {
            "id": "MONDO:0011907",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011907",
            "name": "ACFD",
            "description": ""
        },
        {
            "id": "MIM:607778",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/607778",
            "name": "Acrocapitofemoral dysplasia",
            "description": "Acrocapitofemoral dysplasia"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0050604"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0050604",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0050604",
            "categories": []
        },
        {
            "id": "MONDO:0011907",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011907",
            "categories": []
        },
        {
            "id": "MIM:607778",
            "database": "MIM",
            "url": "https://www.omim.org/entry/607778",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "Q98862-1",
            "uniprot_ac": "Q98862",
            "uniprot_id": "IHH_DANRE",
            "refseq_ac": "NP_571163",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Indian hedgehog B protein",
                    "type": "recommended"
                },
                {
                    "name": "3.1.-.-",
                    "type": "synonym"
                },
                {
                    "name": "EHH",
                    "type": "synonym"
                },
                {
                    "name": "Echidna hedgehog protein",
                    "type": "synonym"
                },
                {
                    "name": "IHHB",
                    "type": "synonym"
                },
                {
                    "name": "Indian hedgehog homolog b",
                    "type": "synonym"
                },
                {
                    "name": "echidna hedgehog protein",
                    "type": "synonym"
                },
                {
                    "name": "hh[b]",
                    "type": "synonym"
                },
                {
                    "name": "hhb",
                    "type": "synonym"
                },
                {
                    "name": "indian hedgehog B protein precursor",
                    "type": "synonym"
                },
                {
                    "name": "indian hedgehog B protein",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "ihhb",
                    "type": "recommended"
                },
                {
                    "name": "IHH",
                    "type": "synonym"
                },
                {
                    "name": "ehh",
                    "type": "synonym"
                },
                {
                    "name": "ihhb",
                    "type": "synonym"
                },
                {
                    "name": "ihh",
                    "type": "synonym"
                },
                {
                    "name": "zgc:113262",
                    "type": "synonym"
                }
            ],
            "record_id": "Q98862-1",
            "evidence": [
                {
                    "id": "0050604",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0050604"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P97812-1",
            "uniprot_ac": "P97812",
            "uniprot_id": "IHH_MOUSE",
            "refseq_ac": "NP_034674",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Indian hedgehog protein",
                    "type": "recommended"
                },
                {
                    "name": "3.1.-.-",
                    "type": "synonym"
                },
                {
                    "name": "HHG-2",
                    "type": "synonym"
                },
                {
                    "name": "IHH",
                    "type": "synonym"
                },
                {
                    "name": "indian hedgehog protein isoform 1 preproprotein",
                    "type": "synonym"
                },
                {
                    "name": "indian hedgehog protein",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Ihh",
                    "type": "recommended"
                },
                {
                    "name": "HHG-2",
                    "type": "synonym"
                },
                {
                    "name": "Ihh",
                    "type": "synonym"
                }
            ],
            "record_id": "P97812-1",
            "evidence": [
                {
                    "id": "0050604",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0050604"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q14623-1",
            "uniprot_ac": "Q14623",
            "uniprot_id": "IHH_HUMAN",
            "refseq_ac": "NP_002172",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Indian hedgehog protein",
                    "type": "recommended"
                },
                {
                    "name": "3.1.-.-",
                    "type": "synonym"
                },
                {
                    "name": "HHG-2",
                    "type": "synonym"
                },
                {
                    "name": "IHH",
                    "type": "synonym"
                },
                {
                    "name": "Indian hedgehog homolog",
                    "type": "synonym"
                },
                {
                    "name": "indian hedgehog protein preproprotein",
                    "type": "synonym"
                },
                {
                    "name": "indian hedgehog protein",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "IHH",
                    "type": "recommended"
                },
                {
                    "name": "BDA1",
                    "type": "synonym"
                },
                {
                    "name": "HHG2",
                    "type": "synonym"
                },
                {
                    "name": "IHH",
                    "type": "synonym"
                }
            ],
            "record_id": "Q14623-1",
            "evidence": [
                {
                    "id": "607778",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/607778"
                },
                {
                    "id": "0050604",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0050604"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "F1LP42-1",
            "uniprot_ac": "F1LP42",
            "uniprot_id": "F1LP42_RAT",
            "refseq_ac": "NP_445836",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Hedgehog protein",
                    "type": "recommended"
                },
                {
                    "name": "indian hedgehog protein precursor",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Ihh",
                    "type": "recommended"
                },
                {
                    "name": "Ihh",
                    "type": "synonym"
                }
            ],
            "record_id": "F1LP42-1",
            "evidence": [
                {
                    "id": "0050604",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0050604"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q02936-1",
            "uniprot_ac": "Q02936",
            "uniprot_id": "HH_DROME",
            "refseq_ac": "NP_001034065",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "Protein hedgehog",
                    "type": "recommended"
                },
                {
                    "name": "3.1.-.-",
                    "type": "synonym"
                },
                {
                    "name": "CG4637-PB",
                    "type": "synonym"
                },
                {
                    "name": "PKC",
                    "type": "synonym"
                },
                {
                    "name": "atypical",
                    "type": "synonym"
                },
                {
                    "name": "bar-on-3",
                    "type": "synonym"
                },
                {
                    "name": "hedgehog",
                    "type": "synonym"
                },
                {
                    "name": "hedghog",
                    "type": "synonym"
                },
                {
                    "name": "hh-PB",
                    "type": "synonym"
                },
                {
                    "name": "mirabile",
                    "type": "synonym"
                },
                {
                    "name": "moonrat",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "hh",
                    "type": "recommended"
                },
                {
                    "name": "CG4637",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG4637",
                    "type": "synonym"
                },
                {
                    "name": "Dmhh",
                    "type": "synonym"
                },
                {
                    "name": "HH",
                    "type": "synonym"
                },
                {
                    "name": "Hg",
                    "type": "synonym"
                },
                {
                    "name": "Hh",
                    "type": "synonym"
                },
                {
                    "name": "Mir",
                    "type": "synonym"
                },
                {
                    "name": "Mrt",
                    "type": "synonym"
                },
                {
                    "name": "anon-WO0134654.19",
                    "type": "synonym"
                },
                {
                    "name": "anon-WO0182946.19",
                    "type": "synonym"
                },
                {
                    "name": "bar-3",
                    "type": "synonym"
                },
                {
                    "name": "bar3",
                    "type": "synonym"
                },
                {
                    "name": "bar",
                    "type": "synonym"
                },
                {
                    "name": "hg",
                    "type": "synonym"
                },
                {
                    "name": "hh",
                    "type": "synonym"
                },
                {
                    "name": "l(3)hh",
                    "type": "synonym"
                },
                {
                    "name": "l(3)neo56",
                    "type": "synonym"
                },
                {
                    "name": "l(3)neo57",
                    "type": "synonym"
                }
            ],
            "record_id": "Q02936-1",
            "evidence": [
                {
                    "id": "0050604",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0050604"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0050604"
}