{
    "disease_id": "DOID:0081048",
    "recommended_name": {
        "id": "DOID:0081048",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0081048",
        "name": "congenital limbs-face contractures-hypotonia-developmental delay syndrome",
        "description": "A syndrome that is characterized by congenital contractures of the limbs and face, resulting in characteristic facial features, hypotonia, and variable degrees of developmental delay and that has_material_basis_in heterozygous mutation in the NALCN gene on chromosome 13q33."
    },
    "synonyms": [
        {
            "id": "DOID:0081048",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0081048",
            "name": "CLIFAHDD syndrome",
            "description": ""
        },
        {
            "id": "DOID:0081048",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0081048",
            "name": "congenital contractures of the limbs and face, hypotonia, and developmental delay",
            "description": ""
        },
        {
            "id": "MONDO:0014556",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014556",
            "name": "congenital contractures of the limbs and face, hypotonia, and developmental delay",
            "description": "A rare multiple congenital anomalies/dysmorphic syndrome with intellectual disability characterized by severe congenital contractures of the limbs and face, hypotonia, neonatal respiratory distress, and global developmental delay. Dysmorphic facial features include downslanting palpebral fissures, broad nasal bridge, large nares, long philtrum, and deep nasolabial folds, among others. Limb deformities (camptodactyly, clubfoot), short neck, scoliosis, as well as seizures have also been reported. Brain MRI may show cerebral and cerebellar atrophy in some cases."
        },
        {
            "id": "MONDO:0014556",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014556",
            "name": "CLIFAHDD syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0014556",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014556",
            "name": "congenital contractures of the limbs and face, hypotonia, and developmental delay",
            "description": ""
        },
        {
            "id": "MONDO:0014556",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014556",
            "name": "congenital limbs-face contractures-hypotonia-developmental delay syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0014556",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014556",
            "name": "CLIFAHDD",
            "description": ""
        },
        {
            "id": "MIM:616266",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/616266",
            "name": "Congenital contractures of the limbs and face, hypotonia, and developmental delay",
            "description": "Congenital contractures of the limbs and face, hypotonia, and developmental delay"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0081048"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0081048",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0081048",
            "categories": []
        },
        {
            "id": "MONDO:0014556",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014556",
            "categories": []
        },
        {
            "id": "MIM:616266",
            "database": "MIM",
            "url": "https://www.omim.org/entry/616266",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "A0A8M2BF56-1",
            "uniprot_ac": "A0A8M2BF56",
            "uniprot_id": "A0A8M2BF56_DANRE",
            "refseq_ac": "XP_005167755",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Sodium leak channel NALCN",
                    "type": "recommended"
                },
                {
                    "name": "Sodium leak channel non-selective protein",
                    "type": "synonym"
                },
                {
                    "name": "Voltage gated channel-like protein 1",
                    "type": "synonym"
                },
                {
                    "name": "sodium leak channel NALCN isoform X1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "nalcn",
                    "type": "recommended"
                },
                {
                    "name": "nalcn",
                    "type": "synonym"
                },
                {
                    "name": "zgc:113349",
                    "type": "synonym"
                }
            ],
            "record_id": "A0A8M2BF56-1",
            "evidence": [
                {
                    "id": "0081048",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0081048"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q8BXR5-1",
            "uniprot_ac": "Q8BXR5",
            "uniprot_id": "NALCN_MOUSE",
            "refseq_ac": "NP_796367",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Sodium leak channel NALCN",
                    "type": "recommended"
                },
                {
                    "name": "Sodium leak channel non-selective protein",
                    "type": "synonym"
                },
                {
                    "name": "Voltage gated channel-like protein 1",
                    "type": "synonym"
                },
                {
                    "name": "sodium leak channel NALCN",
                    "type": "synonym"
                },
                {
                    "name": "sodium leak channel non-selective protein",
                    "type": "synonym"
                },
                {
                    "name": "voltage gated channel like 1",
                    "type": "synonym"
                },
                {
                    "name": "voltage gated channel-like protein 1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Nalcn",
                    "type": "recommended"
                },
                {
                    "name": "A530023G15Rik",
                    "type": "synonym"
                },
                {
                    "name": "Nalcn",
                    "type": "synonym"
                },
                {
                    "name": "Vgcnl1",
                    "type": "synonym"
                }
            ],
            "record_id": "Q8BXR5-1",
            "evidence": [
                {
                    "id": "0081048",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0081048"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q8IZF0-1",
            "uniprot_ac": "Q8IZF0",
            "uniprot_id": "NALCN_HUMAN",
            "refseq_ac": "NP_443099",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Sodium leak channel NALCN",
                    "type": "recommended"
                },
                {
                    "name": "CanIon",
                    "type": "synonym"
                },
                {
                    "name": "Sodium leak channel non-selective protein",
                    "type": "synonym"
                },
                {
                    "name": "Voltage gated channel-like protein 1",
                    "type": "synonym"
                },
                {
                    "name": "four repeat voltage-gated ion channel",
                    "type": "synonym"
                },
                {
                    "name": "sodium leak channel NALCN isoform 2",
                    "type": "synonym"
                },
                {
                    "name": "sodium leak channel NALCN",
                    "type": "synonym"
                },
                {
                    "name": "voltage gated channel like 1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "NALCN",
                    "type": "recommended"
                },
                {
                    "name": "CLIFAHDD",
                    "type": "synonym"
                },
                {
                    "name": "CanIon",
                    "type": "synonym"
                },
                {
                    "name": "IHPRF1",
                    "type": "synonym"
                },
                {
                    "name": "IHPRF",
                    "type": "synonym"
                },
                {
                    "name": "INNFD",
                    "type": "synonym"
                },
                {
                    "name": "NALCN",
                    "type": "synonym"
                },
                {
                    "name": "VGCNL1",
                    "type": "synonym"
                },
                {
                    "name": "bA430M15.1",
                    "type": "synonym"
                }
            ],
            "record_id": "Q8IZF0-1",
            "evidence": [
                {
                    "id": "616266",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/616266"
                },
                {
                    "id": "0081048",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0081048"
                }
            ]
        },
        {
            "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": "0081048",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0081048"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q6Q760-1",
            "uniprot_ac": "Q6Q760",
            "uniprot_id": "NALCN_RAT",
            "refseq_ac": "",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Sodium leak channel NALCN",
                    "type": "recommended"
                },
                {
                    "name": "Four domain-type voltage-gated ion channel alpha-1 subunit",
                    "type": "synonym"
                },
                {
                    "name": "Rb21-channel",
                    "type": "synonym"
                },
                {
                    "name": "Sodium leak channel non-selective protein",
                    "type": "synonym"
                },
                {
                    "name": "Voltage gated channel-like protein 1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Nalcn",
                    "type": "recommended"
                },
                {
                    "name": "Nca",
                    "type": "synonym"
                },
                {
                    "name": "Rb21",
                    "type": "synonym"
                },
                {
                    "name": "Vgcnl1",
                    "type": "synonym"
                }
            ],
            "record_id": "Q6Q760-1",
            "evidence": [
                {
                    "id": "0081048",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0081048"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "A8JUW5-1",
            "uniprot_ac": "A8JUW5",
            "uniprot_id": "A8JUW5_DROME",
            "refseq_ac": "NP_001096981",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "Sodium leak channel NALCN",
                    "type": "recommended"
                },
                {
                    "name": "CG1517-PF",
                    "type": "synonym"
                },
                {
                    "name": "NARROW ABDOMEN",
                    "type": "synonym"
                },
                {
                    "name": "Sodium leak channel non-selective protein",
                    "type": "synonym"
                },
                {
                    "name": "Voltage gated channel-like protein 1",
                    "type": "synonym"
                },
                {
                    "name": "halothane-resistant",
                    "type": "synonym"
                },
                {
                    "name": "na-PF",
                    "type": "synonym"
                },
                {
                    "name": "narrow abdomen, isoform F",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "na",
                    "type": "recommended"
                },
                {
                    "name": "CG1517",
                    "type": "synonym"
                },
                {
                    "name": "Dma1U",
                    "type": "synonym"
                },
                {
                    "name": "Dmalpha1U",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG1517",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG1517",
                    "type": "synonym"
                },
                {
                    "name": "NALCN",
                    "type": "synonym"
                },
                {
                    "name": "NA",
                    "type": "synonym"
                },
                {
                    "name": "Na",
                    "type": "synonym"
                },
                {
                    "name": "alpha1U",
                    "type": "synonym"
                },
                {
                    "name": "har 38",
                    "type": "synonym"
                },
                {
                    "name": "har 85",
                    "type": "synonym"
                },
                {
                    "name": "har38",
                    "type": "synonym"
                },
                {
                    "name": "har85",
                    "type": "synonym"
                },
                {
                    "name": "harA",
                    "type": "synonym"
                },
                {
                    "name": "har",
                    "type": "synonym"
                },
                {
                    "name": "na",
                    "type": "synonym"
                }
            ],
            "record_id": "A8JUW5-1",
            "evidence": [
                {
                    "id": "0081048",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0081048"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0081048"
}