{
    "disease_id": "DOID:0070536",
    "recommended_name": {
        "id": "DOID:0070536",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0070536",
        "name": "neurodevelopmental disorder with hypotonia, language delay, and skeletal defects with or without seizures",
        "description": "An autosomal dominant intellectual developmental disorder characterized by behavioral abnormalities and developmental delay ranging from mild-to-moderate impaired intellectual development with expressive language delay to severly impaired intellectual development, severe hypotonia with delayed walking or inability to walk, and poor or absent speech that has_material_basis_in heterozygous mutation in the CACNA1C gene on chromosome 12p13.33."
    },
    "synonyms": [
        {
            "id": "DOID:0070536",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070536",
            "name": "NEDHLSS",
            "description": ""
        },
        {
            "id": "MONDO:0859286",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0859286",
            "name": "neurodevelopmental disorder with hypotonia, language delay, and skeletal defects with or without seizures",
            "description": ""
        },
        {
            "id": "MIM:620029",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/620029",
            "name": "Neurodevelopmental disorder with hypotonia, language delay, and skeletal defects with or without seizures",
            "description": "Neurodevelopmental disorder with hypotonia, language delay, and skeletal defects with or without seizures"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0070536"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0070536",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070536",
            "categories": []
        },
        {
            "id": "MONDO:0859286",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0859286",
            "categories": []
        },
        {
            "id": "MIM:620029",
            "database": "MIM",
            "url": "https://www.omim.org/entry/620029",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "A0AB32TNI5-1",
            "uniprot_ac": "A0AB32TNI5",
            "uniprot_id": "A0AB32TNI5_DANRE",
            "refseq_ac": "XP_068075595",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Voltage-dependent L-type calcium channel subunit alpha",
                    "type": "recommended"
                },
                {
                    "name": "voltage-dependent L-type calcium channel subunit alpha-1C isoform X1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "cacna1c",
                    "type": "recommended"
                },
                {
                    "name": "C-LTCC",
                    "type": "synonym"
                },
                {
                    "name": "cacna1c",
                    "type": "synonym"
                },
                {
                    "name": "isl",
                    "type": "synonym"
                }
            ],
            "record_id": "A0AB32TNI5-1",
            "evidence": [
                {
                    "id": "0070536",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070536"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q01815-1",
            "uniprot_ac": "Q01815",
            "uniprot_id": "CAC1C_MOUSE",
            "refseq_ac": "NP_001153005",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Voltage-dependent L-type calcium channel subunit alpha-1C",
                    "type": "recommended"
                },
                {
                    "name": "Calcium channel, L type, alpha-1 polypeptide, isoform 1, cardiac muscle",
                    "type": "synonym"
                },
                {
                    "name": "MBC",
                    "type": "synonym"
                },
                {
                    "name": "MELC-CC",
                    "type": "synonym"
                },
                {
                    "name": "Mouse brain class C",
                    "type": "synonym"
                },
                {
                    "name": "Voltage-gated calcium channel subunit alpha Cav1.2",
                    "type": "synonym"
                },
                {
                    "name": "brain class C",
                    "type": "synonym"
                },
                {
                    "name": "calcium channel voltage-dependent alpha1c subunit",
                    "type": "synonym"
                },
                {
                    "name": "neuronal voltage-gated calcium channel alpha 1C subunit",
                    "type": "synonym"
                },
                {
                    "name": "skeletal muscle-specific calcium channel",
                    "type": "synonym"
                },
                {
                    "name": "voltage-dependent L-type calcium channel subunit alpha-1C isoform 2",
                    "type": "synonym"
                },
                {
                    "name": "voltage-dependent L-type calcium channel subunit alpha-1C",
                    "type": "synonym"
                },
                {
                    "name": "voltage-gated calcium channel subunit alpha Cav1.2",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Cacna1c",
                    "type": "recommended"
                },
                {
                    "name": "Cach2",
                    "type": "synonym"
                },
                {
                    "name": "Cacn2",
                    "type": "synonym"
                },
                {
                    "name": "Cacna1c",
                    "type": "synonym"
                },
                {
                    "name": "Cacnl1a1",
                    "type": "synonym"
                },
                {
                    "name": "Cav1.2",
                    "type": "synonym"
                },
                {
                    "name": "Cchl1a1",
                    "type": "synonym"
                },
                {
                    "name": "D930026N18Rik",
                    "type": "synonym"
                },
                {
                    "name": "MBC",
                    "type": "synonym"
                },
                {
                    "name": "MELC-CC",
                    "type": "synonym"
                }
            ],
            "record_id": "Q01815-1",
            "evidence": [
                {
                    "id": "0070536",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070536"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q13936-1",
            "uniprot_ac": "Q13936",
            "uniprot_id": "CAC1C_HUMAN",
            "refseq_ac": "NP_000710",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Voltage-dependent L-type calcium channel subunit alpha-1C",
                    "type": "recommended"
                },
                {
                    "name": "CACNA1C intronic transcript 2 (non-protein coding)",
                    "type": "synonym"
                },
                {
                    "name": "CACNA1C intronic transcript 2",
                    "type": "synonym"
                },
                {
                    "name": "Calcium channel, L type, alpha-1 polypeptide, isoform 1, cardiac muscle",
                    "type": "synonym"
                },
                {
                    "name": "DHPR, alpha-1 subunit",
                    "type": "synonym"
                },
                {
                    "name": "Voltage-gated calcium channel subunit alpha Cav1.2",
                    "type": "synonym"
                },
                {
                    "name": "calcium channel, cardic dihydropyridine-sensitive, alpha-1 subunit",
                    "type": "synonym"
                },
                {
                    "name": "calcium channel, voltage-dependent, L type, alpha 1C subunit",
                    "type": "synonym"
                },
                {
                    "name": "voltage-dependent L-type Ca2+ channel alpha 1 subunit",
                    "type": "synonym"
                },
                {
                    "name": "voltage-dependent L-type calcium channel subunit alpha-1C isoform 18",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "CACNA1C",
                    "type": "recommended"
                },
                {
                    "name": "CACH2",
                    "type": "synonym"
                },
                {
                    "name": "CACN2",
                    "type": "synonym"
                },
                {
                    "name": "CACNA1C-IT2",
                    "type": "synonym"
                },
                {
                    "name": "CACNA1C",
                    "type": "synonym"
                },
                {
                    "name": "CACNL1A1",
                    "type": "synonym"
                },
                {
                    "name": "CCHL1A1",
                    "type": "synonym"
                },
                {
                    "name": "CaV1.2",
                    "type": "synonym"
                },
                {
                    "name": "LQT8",
                    "type": "synonym"
                },
                {
                    "name": "NEDHLSS",
                    "type": "synonym"
                },
                {
                    "name": "TS. LQT8",
                    "type": "synonym"
                },
                {
                    "name": "TS",
                    "type": "synonym"
                }
            ],
            "record_id": "Q13936-1",
            "evidence": [
                {
                    "id": "620029",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/620029"
                },
                {
                    "id": "0070536",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070536"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P50077-1",
            "uniprot_ac": "P50077",
            "uniprot_id": "CCH1_YEAST",
            "refseq_ac": "NP_011733",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Saccharomyces cerevisiae S288C",
                    "taxid": 559292,
                    "common_name": "Baker's yeast",
                    "glygen_name": "Yeast",
                    "reference_species": "Saccharomyces cerevisiae S288C [559292]"
                }
            ],
            "protein_names": [
                {
                    "name": "Calcium-channel protein CCH1",
                    "type": "recommended"
                },
                {
                    "name": "calcium channel protein CCH1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "CCH1",
                    "type": "recommended"
                },
                {
                    "name": "CCH1",
                    "type": "synonym"
                },
                {
                    "name": "G8501",
                    "type": "synonym"
                }
            ],
            "record_id": "P50077-1",
            "evidence": [
                {
                    "id": "0070536",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070536"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P22002-1",
            "uniprot_ac": "P22002",
            "uniprot_id": "CAC1C_RAT",
            "refseq_ac": "NP_036649",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Voltage-dependent L-type calcium channel subunit alpha-1C",
                    "type": "recommended"
                },
                {
                    "name": "Calcium channel, L type, alpha-1 polypeptide, isoform 1, cardiac muscle",
                    "type": "synonym"
                },
                {
                    "name": "L-type calcium channel alpha-1 subunit",
                    "type": "synonym"
                },
                {
                    "name": "RBC",
                    "type": "synonym"
                },
                {
                    "name": "Rat brain class C",
                    "type": "synonym"
                },
                {
                    "name": "Voltage-gated calcium channel subunit alpha Cav1.2",
                    "type": "synonym"
                },
                {
                    "name": "brain class C",
                    "type": "synonym"
                },
                {
                    "name": "calcium channel, voltage-dependent, L type, alpha 1C subunit",
                    "type": "synonym"
                },
                {
                    "name": "calcium channel, voltage-dependent, alpha 1C subunit",
                    "type": "synonym"
                },
                {
                    "name": "voltage-dependent L-type calcium channel subunit alpha-1C",
                    "type": "synonym"
                },
                {
                    "name": "voltage-gated calcium channel subunit alpha Cav1.2",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Cacna1c",
                    "type": "recommended"
                },
                {
                    "name": "Cach2",
                    "type": "synonym"
                },
                {
                    "name": "Cacn2",
                    "type": "synonym"
                },
                {
                    "name": "Cacna1c",
                    "type": "synonym"
                },
                {
                    "name": "Cacnl1a1",
                    "type": "synonym"
                },
                {
                    "name": "Cchl1a1",
                    "type": "synonym"
                },
                {
                    "name": "RATIVS302",
                    "type": "synonym"
                }
            ],
            "record_id": "P22002-1",
            "evidence": [
                {
                    "id": "0070536",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070536"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q24270-1",
            "uniprot_ac": "Q24270",
            "uniprot_id": "CAC1D_DROME",
            "refseq_ac": "",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "Voltage-dependent calcium channel type D subunit alpha-1",
                    "type": "recommended"
                },
                {
                    "name": "DmCa1D",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Ca-alpha1D",
                    "type": "recommended"
                },
                {
                    "name": "A1D",
                    "type": "synonym"
                },
                {
                    "name": "BG:DS02795.1",
                    "type": "synonym"
                },
                {
                    "name": "CAD",
                    "type": "synonym"
                },
                {
                    "name": "CG4894",
                    "type": "synonym"
                },
                {
                    "name": "Ca-Alpha1D",
                    "type": "synonym"
                },
                {
                    "name": "Ca-_1D",
                    "type": "synonym"
                },
                {
                    "name": "Ca-a1D",
                    "type": "synonym"
                },
                {
                    "name": "Ca-alpha1",
                    "type": "synonym"
                },
                {
                    "name": "Ca-alphaID",
                    "type": "synonym"
                },
                {
                    "name": "Ca-alpha[[1]]D",
                    "type": "synonym"
                },
                {
                    "name": "Ca1D",
                    "type": "synonym"
                },
                {
                    "name": "Ca_alpha1D",
                    "type": "synonym"
                },
                {
                    "name": "Caalpha1D",
                    "type": "synonym"
                },
                {
                    "name": "D-type Ca[2+]",
                    "type": "synonym"
                },
                {
                    "name": "DmCa1D",
                    "type": "synonym"
                },
                {
                    "name": "DmCa1alpha1",
                    "type": "synonym"
                },
                {
                    "name": "Dmca1D",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG4894",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG4894",
                    "type": "synonym"
                },
                {
                    "name": "DroCa1",
                    "type": "synonym"
                },
                {
                    "name": "alpha1D",
                    "type": "synonym"
                },
                {
                    "name": "alpha1",
                    "type": "synonym"
                },
                {
                    "name": "ca-alpha1D",
                    "type": "synonym"
                },
                {
                    "name": "ca-alpha1d",
                    "type": "synonym"
                },
                {
                    "name": "caID",
                    "type": "synonym"
                },
                {
                    "name": "cad",
                    "type": "synonym"
                },
                {
                    "name": "dmca1D",
                    "type": "synonym"
                },
                {
                    "name": "l(2)35Fa",
                    "type": "synonym"
                },
                {
                    "name": "l35Fa",
                    "type": "synonym"
                }
            ],
            "record_id": "Q24270-1",
            "evidence": [
                {
                    "id": "0070536",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070536"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0070536"
}