{
    "disease_id": "DOID:0070543",
    "recommended_name": {
        "id": "DOID:0070543",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0070543",
        "name": "neurodevelopmental disorder with cardiomyopathy, spasticity, and brain abnormalities",
        "description": "An mitochondrial metabolism disease characterized by global neurodevelopmental delay, severely impaired intellectual development, poor overall growth, spasticity of the lower limbs resulting in gait difficulties, and progressive hypertrophic cardiomyopathy or cardiac developmental anomalies that has_material_basis_in homozygous or compound heterozygous mutation in the SHMT2 gene on chromosome 12q13.3."
    },
    "synonyms": [
        {
            "id": "DOID:0070543",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070543",
            "name": "NEDCASB",
            "description": ""
        },
        {
            "id": "MONDO:0030866",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0030866",
            "name": "neurodevelopmental disorder with cardiomyopathy, spasticity, and brain abnormalities",
            "description": ""
        },
        {
            "id": "MONDO:0030866",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0030866",
            "name": "NEDCASB",
            "description": ""
        },
        {
            "id": "MIM:619121",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/619121",
            "name": "Neurodevelopmental disorder with cardiomyopathy, spasticity, and brain abnormalities",
            "description": "Neurodevelopmental disorder with cardiomyopathy, spasticity, and brain abnormalities"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0070543"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0070543",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070543",
            "categories": []
        },
        {
            "id": "MONDO:0030866",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0030866",
            "categories": []
        },
        {
            "id": "MIM:619121",
            "database": "MIM",
            "url": "https://www.omim.org/entry/619121",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "Q9CZN7-1",
            "uniprot_ac": "Q9CZN7",
            "uniprot_id": "GLYM_MOUSE",
            "refseq_ac": "NP_001239245",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Serine hydroxymethyltransferase, mitochondrial",
                    "type": "recommended"
                },
                {
                    "name": "2.1.2.1",
                    "type": "synonym"
                },
                {
                    "name": "Glycine hydroxymethyltransferase",
                    "type": "synonym"
                },
                {
                    "name": "SHMT",
                    "type": "synonym"
                },
                {
                    "name": "Serine methylase",
                    "type": "synonym"
                },
                {
                    "name": "glycine hydroxymethyltransferase",
                    "type": "synonym"
                },
                {
                    "name": "serine hydroxymethyltransferase, mitochondrial isoform 2",
                    "type": "synonym"
                },
                {
                    "name": "serine hydroxymethyltransferase, mitochondrial",
                    "type": "synonym"
                },
                {
                    "name": "serine methylase",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Shmt2",
                    "type": "recommended"
                },
                {
                    "name": "2700043D08Rik",
                    "type": "synonym"
                },
                {
                    "name": "SHMT",
                    "type": "synonym"
                },
                {
                    "name": "Shmt2",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9CZN7-1",
            "evidence": [
                {
                    "id": "0070543",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070543"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P34897-1",
            "uniprot_ac": "P34897",
            "uniprot_id": "GLYM_HUMAN",
            "refseq_ac": "NP_001159828",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Serine hydroxymethyltransferase, mitochondrial",
                    "type": "recommended"
                },
                {
                    "name": "2.1.2.1",
                    "type": "synonym"
                },
                {
                    "name": "GLY A+",
                    "type": "synonym"
                },
                {
                    "name": "Glycine hydroxymethyltransferase",
                    "type": "synonym"
                },
                {
                    "name": "SHMT",
                    "type": "synonym"
                },
                {
                    "name": "Serine methylase",
                    "type": "synonym"
                },
                {
                    "name": "epididymis secretory sperm binding protein Li 51e",
                    "type": "synonym"
                },
                {
                    "name": "glycine auxotroph A, human complement for hamster",
                    "type": "synonym"
                },
                {
                    "name": "glycine hydroxymethyltransferase",
                    "type": "synonym"
                },
                {
                    "name": "mitochondrial serine hydroxymethyltransferase",
                    "type": "synonym"
                },
                {
                    "name": "serine aldolase",
                    "type": "synonym"
                },
                {
                    "name": "serine hydroxymethylase",
                    "type": "synonym"
                },
                {
                    "name": "serine hydroxymethyltransferase 2 (mitochondrial)",
                    "type": "synonym"
                },
                {
                    "name": "serine hydroxymethyltransferase, mitochondrial isoform 2 precursor",
                    "type": "synonym"
                },
                {
                    "name": "serine methylase",
                    "type": "synonym"
                },
                {
                    "name": "threonine aldolase",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "SHMT2",
                    "type": "recommended"
                },
                {
                    "name": "GLYA",
                    "type": "synonym"
                },
                {
                    "name": "HEL-S-51e",
                    "type": "synonym"
                },
                {
                    "name": "NEDCASB",
                    "type": "synonym"
                },
                {
                    "name": "SHMT2",
                    "type": "synonym"
                },
                {
                    "name": "SHMT",
                    "type": "synonym"
                },
                {
                    "name": "mSHMT",
                    "type": "synonym"
                }
            ],
            "record_id": "P34897-1",
            "evidence": [
                {
                    "id": "619121",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/619121"
                },
                {
                    "id": "0070543",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070543"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P37291-1",
            "uniprot_ac": "P37291",
            "uniprot_id": "GLYC_YEAST",
            "refseq_ac": "NP_013159",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Saccharomyces cerevisiae S288C",
                    "taxid": 559292,
                    "common_name": "Baker's yeast",
                    "glygen_name": "Yeast",
                    "reference_species": "Saccharomyces cerevisiae S288C [559292]"
                }
            ],
            "protein_names": [
                {
                    "name": "Serine hydroxymethyltransferase, cytosolic",
                    "type": "recommended"
                },
                {
                    "name": "2.1.2.1",
                    "type": "synonym"
                },
                {
                    "name": "Glycine hydroxymethyltransferase",
                    "type": "synonym"
                },
                {
                    "name": "SHMT",
                    "type": "synonym"
                },
                {
                    "name": "Serine methylase",
                    "type": "synonym"
                },
                {
                    "name": "glycine hydroxymethyltransferase SHM2",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "SHM2",
                    "type": "recommended"
                },
                {
                    "name": "L2156",
                    "type": "synonym"
                },
                {
                    "name": "SHM2",
                    "type": "synonym"
                },
                {
                    "name": "SHMT2",
                    "type": "synonym"
                }
            ],
            "record_id": "P37291-1",
            "evidence": [
                {
                    "id": "0070543",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070543"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9W457-1",
            "uniprot_ac": "Q9W457",
            "uniprot_id": "Q9W457_DROME",
            "refseq_ac": "NP_572278",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "Serine hydroxymethyltransferase",
                    "type": "recommended"
                },
                {
                    "name": "2.1.2.1",
                    "type": "synonym"
                },
                {
                    "name": "CG3011-PA",
                    "type": "synonym"
                },
                {
                    "name": "Shmt-PA",
                    "type": "synonym"
                },
                {
                    "name": "beta-hydroxy-Epsilon-N-trimethyllysine aldolase",
                    "type": "synonym"
                },
                {
                    "name": "glycine hydroxylmethyltransferase",
                    "type": "synonym"
                },
                {
                    "name": "serine hydroxymethyl transferase 2",
                    "type": "synonym"
                },
                {
                    "name": "serine hydroxymethyl transferase, isoform A",
                    "type": "synonym"
                },
                {
                    "name": "serine hydroxymethyltransferase 2",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Shmt",
                    "type": "recommended"
                },
                {
                    "name": "144561_at",
                    "type": "synonym"
                },
                {
                    "name": "CG3011",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG3011",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG3011",
                    "type": "synonym"
                },
                {
                    "name": "HTMLA",
                    "type": "synonym"
                },
                {
                    "name": "Q9W457",
                    "type": "synonym"
                },
                {
                    "name": "SHMT",
                    "type": "synonym"
                },
                {
                    "name": "Shmt2",
                    "type": "synonym"
                },
                {
                    "name": "Shmt",
                    "type": "synonym"
                },
                {
                    "name": "anon-WO03040301.100",
                    "type": "synonym"
                },
                {
                    "name": "shmt",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9W457-1",
            "evidence": [
                {
                    "id": "0070543",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070543"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0070543"
}