{
    "disease_id": "DOID:0080692",
    "recommended_name": {
        "id": "DOID:0080692",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0080692",
        "name": "Noonan syndrome-like disorder with loose anagen hair 1",
        "description": "A Noonan-like syndrome with loose anagen hair that has_material_basis_in heterozygous mutation in the SHOC2 gene on chromosome 10q25."
    },
    "synonyms": [
        {
            "id": "MONDO:0054637",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0054637",
            "name": "Noonan syndrome-like disorder with loose anagen hair 1",
            "description": ""
        },
        {
            "id": "MONDO:0054637",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0054637",
            "name": "NSLH",
            "description": ""
        },
        {
            "id": "MONDO:0054637",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0054637",
            "name": "NSLH1",
            "description": ""
        },
        {
            "id": "MONDO:0054637",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0054637",
            "name": "Noonan syndrome-like disorder with loose anagen hair 1",
            "description": ""
        },
        {
            "id": "MONDO:0054637",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0054637",
            "name": "Noonan syndrome-like with loose anagen hair 1",
            "description": ""
        },
        {
            "id": "MIM:607721",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/607721",
            "name": "Noonan syndrome-like disorder with loose anagen hair 1",
            "description": "Noonan syndrome-like disorder with loose anagen hair 1"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0080692"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0080692",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0080692",
            "categories": []
        },
        {
            "id": "MONDO:0054637",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0054637",
            "categories": []
        },
        {
            "id": "MIM:607721",
            "database": "MIM",
            "url": "https://www.omim.org/entry/607721",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "Q1L8Y7-1",
            "uniprot_ac": "Q1L8Y7",
            "uniprot_id": "SHOC2_DANRE",
            "refseq_ac": "NP_001038251",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Leucine-rich repeat protein SHOC-2",
                    "type": "recommended"
                },
                {
                    "name": "Protein soc-2 homolog",
                    "type": "synonym"
                },
                {
                    "name": "Protein sur-8 homolog",
                    "type": "synonym"
                },
                {
                    "name": "leucine-rich repeat protein SHOC-2",
                    "type": "synonym"
                },
                {
                    "name": "protein soc-2 homolog",
                    "type": "synonym"
                },
                {
                    "name": "protein sur-8 homolog",
                    "type": "synonym"
                },
                {
                    "name": "soc-2 suppressor of clear homolog",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "shoc2",
                    "type": "recommended"
                },
                {
                    "name": "shoc2",
                    "type": "synonym"
                },
                {
                    "name": "si:ch211-159c12.3",
                    "type": "synonym"
                },
                {
                    "name": "si:ch211-197i12.3",
                    "type": "synonym"
                },
                {
                    "name": "zgc:152956",
                    "type": "synonym"
                }
            ],
            "record_id": "Q1L8Y7-1",
            "evidence": [
                {
                    "id": "0080692",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080692"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "O88520-1",
            "uniprot_ac": "O88520",
            "uniprot_id": "SHOC2_MOUSE",
            "refseq_ac": "NP_001161977",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Leucine-rich repeat protein SHOC-2",
                    "type": "recommended"
                },
                {
                    "name": "Protein soc-2 homolog",
                    "type": "synonym"
                },
                {
                    "name": "Protein sur-8 homolog",
                    "type": "synonym"
                },
                {
                    "name": "Ras-binding protein SUR-8",
                    "type": "synonym"
                },
                {
                    "name": "leucine-rich repeat protein SHOC-2",
                    "type": "synonym"
                },
                {
                    "name": "protein soc-2 homolog",
                    "type": "synonym"
                },
                {
                    "name": "protein sur-8 homolog",
                    "type": "synonym"
                },
                {
                    "name": "soc-2 (suppressor of clear) homolog",
                    "type": "synonym"
                },
                {
                    "name": "soc-2-like protein",
                    "type": "synonym"
                },
                {
                    "name": "suppressor of clear, C. elegans, homolog of",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Shoc2",
                    "type": "recommended"
                },
                {
                    "name": "Shoc2",
                    "type": "synonym"
                },
                {
                    "name": "Sur8",
                    "type": "synonym"
                },
                {
                    "name": "mKIAA0862",
                    "type": "synonym"
                }
            ],
            "record_id": "O88520-1",
            "evidence": [
                {
                    "id": "0080692",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080692"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9UQ13-1",
            "uniprot_ac": "Q9UQ13",
            "uniprot_id": "SHOC2_HUMAN",
            "refseq_ac": "NP_001255968",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Leucine-rich repeat protein SHOC-2",
                    "type": "recommended"
                },
                {
                    "name": "Protein soc-2 homolog",
                    "type": "synonym"
                },
                {
                    "name": "Protein sur-8 homolog",
                    "type": "synonym"
                },
                {
                    "name": "leucine-rich repeat protein SHOC-2 isoform 2",
                    "type": "synonym"
                },
                {
                    "name": "soc-2 suppressor of clear homolog",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "SHOC2",
                    "type": "recommended"
                },
                {
                    "name": "KIAA0862",
                    "type": "synonym"
                },
                {
                    "name": "NSLH1",
                    "type": "synonym"
                },
                {
                    "name": "SHOC2",
                    "type": "synonym"
                },
                {
                    "name": "SIAA0862",
                    "type": "synonym"
                },
                {
                    "name": "SOC2",
                    "type": "synonym"
                },
                {
                    "name": "SUR8",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9UQ13-1",
            "evidence": [
                {
                    "id": "607721",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/607721"
                },
                {
                    "id": "0080692",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080692"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q6AYI5-1",
            "uniprot_ac": "Q6AYI5",
            "uniprot_id": "SHOC2_RAT",
            "refseq_ac": "NP_001013173",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Leucine-rich repeat protein SHOC-2",
                    "type": "recommended"
                },
                {
                    "name": "Protein soc-2 homolog",
                    "type": "synonym"
                },
                {
                    "name": "Protein sur-8 homolog",
                    "type": "synonym"
                },
                {
                    "name": "leucine-rich repeat protein SHOC-2",
                    "type": "synonym"
                },
                {
                    "name": "protein soc-2 homolog",
                    "type": "synonym"
                },
                {
                    "name": "protein sur-8 homolog",
                    "type": "synonym"
                },
                {
                    "name": "soc-2 (suppressor of clear) homolog",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Shoc2",
                    "type": "recommended"
                },
                {
                    "name": "Shoc2",
                    "type": "synonym"
                }
            ],
            "record_id": "Q6AYI5-1",
            "evidence": [
                {
                    "id": "0080692",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080692"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9VEK6-1",
            "uniprot_ac": "Q9VEK6",
            "uniprot_id": "SUR8_DROME",
            "refseq_ac": "NP_001262664",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "Leucine-rich repeat protein soc-2 homolog",
                    "type": "recommended"
                },
                {
                    "name": "CG5407-PF",
                    "type": "synonym"
                },
                {
                    "name": "Protein Sur-8 homolog",
                    "type": "synonym"
                },
                {
                    "name": "Protein soc-2 homolog",
                    "type": "synonym"
                },
                {
                    "name": "Sur-8, isoform F",
                    "type": "synonym"
                },
                {
                    "name": "Sur-8-PF",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Sur-8",
                    "type": "recommended"
                },
                {
                    "name": "CG5407",
                    "type": "synonym"
                },
                {
                    "name": "CT17146",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG5407",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG5407",
                    "type": "synonym"
                },
                {
                    "name": "SUR-8",
                    "type": "synonym"
                },
                {
                    "name": "Sur-8",
                    "type": "synonym"
                },
                {
                    "name": "Sur8",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9VEK6-1",
            "evidence": [
                {
                    "id": "0080692",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080692"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0080692"
}