{
    "disease_id": "DOID:0060858",
    "recommended_name": {
        "id": "DOID:0060858",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0060858",
        "name": "hypotonia-cystinuria syndrome",
        "description": "A syndrome that has_material_basis_in homozygous deletion on chromosome 2p21 that disrupts the SLC3A1 and PREPL genes. The deletion ranges in size from 23.8 to 75.5 kb. Itis characterized_by neonatal and infantile hypotonia and failure to thrive, cystinuria type 1 and nephrolithiasis, growth retardation due to growth hormone deficiency, and minor facial dysmorphism."
    },
    "synonyms": [
        {
            "id": "DOID:0060858",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0060858",
            "name": "cystinuria with mitochondrial disease",
            "description": ""
        },
        {
            "id": "MONDO:0011669",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011669",
            "name": "hypotonia-cystinuria syndrome",
            "description": "A rare syndrome including neonatal and infantile hypotonia and failure to thrive, cystinuria type 1 and nephrolithiasis, growth retardation due to growth hormone deficiency, and minor facial dysmorphism."
        },
        {
            "id": "MONDO:0011669",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011669",
            "name": "HCS",
            "description": ""
        },
        {
            "id": "MONDO:0011669",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011669",
            "name": "cystinuria with mitochondrial disease",
            "description": ""
        },
        {
            "id": "MONDO:0011669",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011669",
            "name": "hypotonia-cystinuria syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0011669",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011669",
            "name": "hypotonia-cystinuria syndrome type 1",
            "description": ""
        },
        {
            "id": "MONDO:0011669",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011669",
            "name": "hypotonia-cystinuria type 1 syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0011669",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011669",
            "name": "homozygous 2P16 deletion syndrome",
            "description": ""
        },
        {
            "id": "MIM:606407",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/606407",
            "name": "Hypotonia-cystinuria syndrome",
            "description": "Hypotonia-cystinuria syndrome"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0060858"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0060858",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0060858",
            "categories": []
        },
        {
            "id": "MONDO:0011669",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011669",
            "categories": []
        },
        {
            "id": "MIM:606407",
            "database": "MIM",
            "url": "https://www.omim.org/entry/606407",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "A0A8M2B3G8-1",
            "uniprot_ac": "A0A8M2B3G8",
            "uniprot_id": "A0A8M2B3G8_DANRE",
            "refseq_ac": "XP_005156634",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Calmodulin-lysine N-methyltransferase",
                    "type": "recommended"
                },
                {
                    "name": "2.1.1.60",
                    "type": "synonym"
                },
                {
                    "name": "calmodulin-lysine N-methyltransferase isoform X1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "camkmt",
                    "type": "recommended"
                },
                {
                    "name": "camkmt",
                    "type": "synonym"
                }
            ],
            "record_id": "A0A8M2B3G8-1",
            "evidence": [
                {
                    "id": "0060858",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060858"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q3U2J5-1",
            "uniprot_ac": "Q3U2J5",
            "uniprot_id": "CMKMT_MOUSE",
            "refseq_ac": "NP_082852",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Calmodulin-lysine N-methyltransferase",
                    "type": "recommended"
                },
                {
                    "name": "2.1.1.60",
                    "type": "synonym"
                },
                {
                    "name": "CLNMT",
                    "type": "synonym"
                },
                {
                    "name": "CaM KMT",
                    "type": "synonym"
                },
                {
                    "name": "calmodulin-lysine N-methyltransferase isoform 1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Camkmt",
                    "type": "recommended"
                },
                {
                    "name": "1700106N22Rik",
                    "type": "synonym"
                },
                {
                    "name": "CLNMT",
                    "type": "synonym"
                },
                {
                    "name": "CaM KMT",
                    "type": "synonym"
                },
                {
                    "name": "Camkmt",
                    "type": "synonym"
                },
                {
                    "name": "Clnmt",
                    "type": "synonym"
                }
            ],
            "record_id": "Q3U2J5-1",
            "evidence": [
                {
                    "id": "0060858",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060858"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q4J6C6-1",
            "uniprot_ac": "Q4J6C6",
            "uniprot_id": "PPCEL_HUMAN",
            "refseq_ac": "NP_001035844",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Prolyl endopeptidase-like",
                    "type": "recommended"
                },
                {
                    "name": "3.4.21.-",
                    "type": "synonym"
                },
                {
                    "name": "Prolylendopeptidase-like",
                    "type": "synonym"
                },
                {
                    "name": "prolyl endopeptidase-like isoform 2",
                    "type": "synonym"
                },
                {
                    "name": "putative prolyl oligopeptidase",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "PREPL",
                    "type": "recommended"
                },
                {
                    "name": "CMS22",
                    "type": "synonym"
                },
                {
                    "name": "KIAA0436",
                    "type": "synonym"
                },
                {
                    "name": "PREPL",
                    "type": "synonym"
                }
            ],
            "record_id": "Q4J6C6-1",
            "evidence": [
                {
                    "id": "606407",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/606407"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q07837-1",
            "uniprot_ac": "Q07837",
            "uniprot_id": "SLC31_HUMAN",
            "refseq_ac": "NP_000332",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Amino acid transporter heavy chain SLC3A1",
                    "type": "recommended"
                },
                {
                    "name": "B(0,+)-type amino acid transport protein",
                    "type": "synonym"
                },
                {
                    "name": "D2h",
                    "type": "synonym"
                },
                {
                    "name": "NBAT",
                    "type": "synonym"
                },
                {
                    "name": "Neutral and basic amino acid transport protein",
                    "type": "synonym"
                },
                {
                    "name": "Solute carrier family 3 member 1",
                    "type": "synonym"
                },
                {
                    "name": "amino acid transporter 1",
                    "type": "synonym"
                },
                {
                    "name": "amino acid transporter heavy chain SLC3A1",
                    "type": "synonym"
                },
                {
                    "name": "b(0,+)-type amino acid transporter-related heavy chain",
                    "type": "synonym"
                },
                {
                    "name": "neutral and basic amino acid transport protein rBAT",
                    "type": "synonym"
                },
                {
                    "name": "rBAT",
                    "type": "synonym"
                },
                {
                    "name": "solute carrier family 3 (amino acid transporter heavy chain), member 1",
                    "type": "synonym"
                },
                {
                    "name": "solute carrier family 3 (cystine, dibasic and neutral amino acid transporters), member 1",
                    "type": "synonym"
                },
                {
                    "name": "solute carrier family 3 (cystine, dibasic and neutral amino acid transporters, activator of cystine, dibasic and neutral amino acid transport), member 1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "SLC3A1",
                    "type": "recommended"
                },
                {
                    "name": "ATR1",
                    "type": "synonym"
                },
                {
                    "name": "CSNU1",
                    "type": "synonym"
                },
                {
                    "name": "D2H",
                    "type": "synonym"
                },
                {
                    "name": "NBAT",
                    "type": "synonym"
                },
                {
                    "name": "RBAT",
                    "type": "synonym"
                },
                {
                    "name": "SLC3A1",
                    "type": "synonym"
                }
            ],
            "record_id": "Q07837-1",
            "evidence": [
                {
                    "id": "606407",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/606407"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q7Z624-1",
            "uniprot_ac": "Q7Z624",
            "uniprot_id": "CMKMT_HUMAN",
            "refseq_ac": "NP_079042",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Calmodulin-lysine N-methyltransferase",
                    "type": "recommended"
                },
                {
                    "name": "2.1.1.60",
                    "type": "synonym"
                },
                {
                    "name": "CLNMT",
                    "type": "synonym"
                },
                {
                    "name": "CaM KMT",
                    "type": "synonym"
                },
                {
                    "name": "calmodulin-lysine N-methyltransferase",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "CAMKMT",
                    "type": "recommended"
                },
                {
                    "name": "C2orf34",
                    "type": "synonym"
                },
                {
                    "name": "CAMKMT",
                    "type": "synonym"
                },
                {
                    "name": "CLNMT",
                    "type": "synonym"
                },
                {
                    "name": "CaM KMT",
                    "type": "synonym"
                },
                {
                    "name": "Cam",
                    "type": "synonym"
                },
                {
                    "name": "KMT",
                    "type": "synonym"
                }
            ],
            "record_id": "Q7Z624-1",
            "evidence": [
                {
                    "id": "606407",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/606407"
                },
                {
                    "id": "0060858",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060858"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "B0K012-1",
            "uniprot_ac": "B0K012",
            "uniprot_id": "CMKMT_RAT",
            "refseq_ac": "NP_001127935",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Calmodulin-lysine N-methyltransferase",
                    "type": "recommended"
                },
                {
                    "name": "2.1.1.60",
                    "type": "synonym"
                },
                {
                    "name": "CLNMT",
                    "type": "synonym"
                },
                {
                    "name": "CaM KMT",
                    "type": "synonym"
                },
                {
                    "name": "calmodulin-lysine N-methyltransferase",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Camkmt",
                    "type": "recommended"
                },
                {
                    "name": "CLNMT",
                    "type": "synonym"
                },
                {
                    "name": "CaM KMT",
                    "type": "synonym"
                },
                {
                    "name": "Camkmt",
                    "type": "synonym"
                },
                {
                    "name": "Clnmt",
                    "type": "synonym"
                },
                {
                    "name": "RGD1310453",
                    "type": "synonym"
                }
            ],
            "record_id": "B0K012-1",
            "evidence": [
                {
                    "id": "0060858",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060858"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "A4V0X6-1",
            "uniprot_ac": "A4V0X6",
            "uniprot_id": "A4V0X6_DROME",
            "refseq_ac": "NP_610031",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "Calmodulin-lysine N-methyltransferase",
                    "type": "recommended"
                },
                {
                    "name": "2.1.1.60",
                    "type": "synonym"
                },
                {
                    "name": "CG10947-PD",
                    "type": "synonym"
                },
                {
                    "name": "uncharacterized protein, isoform D",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "38C.42",
                    "type": "recommended"
                },
                {
                    "name": "38C.42",
                    "type": "synonym"
                },
                {
                    "name": "CG10947",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG10947",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG10947",
                    "type": "synonym"
                }
            ],
            "record_id": "A4V0X6-1",
            "evidence": [
                {
                    "id": "0060858",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060858"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0060858"
}