{
    "disease_id": "DOID:0111213",
    "recommended_name": {
        "id": "DOID:0111213",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0111213",
        "name": "autosomal recessive distal hereditary motor neuronopathy 4",
        "description": "An autosomal recessive distal hereditary motor neuronopathy characterized by onset in early childhood of rapidly progressing proximal muscle weakness with an early involvement of foot and hand muscles that has_material_basis_in homozygous or compound heterozygous mutation in PLEKHG5 on 1p36.31."
    },
    "synonyms": [
        {
            "id": "DOID:0111213",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111213",
            "name": "DSMA4",
            "description": ""
        },
        {
            "id": "DOID:0111213",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111213",
            "name": "autosomal recessive lower motor neuron disease with childhood onset",
            "description": ""
        },
        {
            "id": "DOID:0111213",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111213",
            "name": "autosomal recessive distal spinal muscular atrophy type 4",
            "description": ""
        },
        {
            "id": "DOID:0111213",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111213",
            "name": "distal spinal muscular atrophy type 4",
            "description": ""
        },
        {
            "id": "MONDO:0012608",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012608",
            "name": "neuronopathy, distal hereditary motor, autosomal recessive 4",
            "description": "A rare, genetic, neuromuscular disease characterized by proximal muscle weakness with an early involvement of foot and hand muscles following normal motor development in early childhood, a rapidly progressive disease course leading to generalized areflexic tetraplegia with contractures, severe scoliosis, hyperlordosis, and progressive respiratory insufficiency leading to assisted ventilation. Cranial nerve functions are normal and tongue wasting and fasciculations are absent. Milder phenotype with a moderate generalized weakness and slower disease progress was reported."
        },
        {
            "id": "MONDO:0012608",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012608",
            "name": "DSMA4",
            "description": ""
        },
        {
            "id": "MONDO:0012608",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012608",
            "name": "autosomal recessive distal spinal muscular atrophy type 4",
            "description": ""
        },
        {
            "id": "MONDO:0012608",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012608",
            "name": "autosomal recessive lower motor neuron disease with childhood onset",
            "description": ""
        },
        {
            "id": "MONDO:0012608",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012608",
            "name": "dSMA4",
            "description": ""
        },
        {
            "id": "MONDO:0012608",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012608",
            "name": "distal spinal muscular atrophy type 4",
            "description": ""
        },
        {
            "id": "MONDO:0012608",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012608",
            "name": "neuronopathy, distal hereditary motor, autosomal recessive 4",
            "description": ""
        },
        {
            "id": "MONDO:0012608",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012608",
            "name": "spinal muscular atrophy, distal, autosomal recessive, type 4",
            "description": ""
        },
        {
            "id": "MONDO:0012608",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012608",
            "name": "spinal muscular atrophy, distal, autosomal recessive, 4",
            "description": ""
        },
        {
            "id": "MIM:611067",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/611067",
            "name": "Neuronopathy, distal hereditary motor, autosomal recessive 4",
            "description": "Neuronopathy, distal hereditary motor, autosomal recessive 4"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0111213"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0111213",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111213",
            "categories": []
        },
        {
            "id": "MONDO:0012608",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012608",
            "categories": []
        },
        {
            "id": "MIM:611067",
            "database": "MIM",
            "url": "https://www.omim.org/entry/611067",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "A0ACD6B6G0-1",
            "uniprot_ac": "A0ACD6B6G0",
            "uniprot_id": "A0ACD6B6G0_DANRE",
            "refseq_ac": "XP_009304320",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Pleckstrin homology domain-containing family G member 5 isoform X1",
                    "type": "synonym"
                },
                {
                    "name": "pleckstrin homology domain-containing family G member 5 isoform X1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "plekhg5a",
                    "type": "recommended"
                },
                {
                    "name": "plekhg5a",
                    "type": "synonym"
                }
            ],
            "record_id": "A0ACD6B6G0-1",
            "evidence": [
                {
                    "id": "0111213",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111213"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q66T02-1",
            "uniprot_ac": "Q66T02",
            "uniprot_id": "PKHG5_MOUSE",
            "refseq_ac": "NP_001272928",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Pleckstrin homology domain-containing family G member 5",
                    "type": "recommended"
                },
                {
                    "name": "PH domain-containing family G member 5",
                    "type": "synonym"
                },
                {
                    "name": "RhoA-specific guanine exchange factor SYX1",
                    "type": "synonym"
                },
                {
                    "name": "RhoA-specific guanine exchange factor SYX2",
                    "type": "synonym"
                },
                {
                    "name": "SYX",
                    "type": "synonym"
                },
                {
                    "name": "Synectin-binding RhoA exchange factor",
                    "type": "synonym"
                },
                {
                    "name": "pleckstrin homology domain-containing family G member 5 isoform 1",
                    "type": "synonym"
                },
                {
                    "name": "synectin-binding RhoA exchange factor",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Plekhg5",
                    "type": "recommended"
                },
                {
                    "name": "Kiaa0720",
                    "type": "synonym"
                },
                {
                    "name": "Plekhg5",
                    "type": "synonym"
                },
                {
                    "name": "Syx",
                    "type": "synonym"
                }
            ],
            "record_id": "Q66T02-1",
            "evidence": [
                {
                    "id": "0111213",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111213"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "O94827-5",
            "uniprot_ac": "O94827",
            "uniprot_id": "PKHG5_HUMAN",
            "refseq_ac": "NP_001036129",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Pleckstrin homology domain-containing family G member 5",
                    "type": "recommended"
                },
                {
                    "name": "GEF720",
                    "type": "synonym"
                },
                {
                    "name": "Guanine nucleotide exchange factor 720",
                    "type": "synonym"
                },
                {
                    "name": "NFkB activating protein",
                    "type": "synonym"
                },
                {
                    "name": "PH domain-containing family G member 5",
                    "type": "synonym"
                },
                {
                    "name": "guanine nucleotide exchange factor 720",
                    "type": "synonym"
                },
                {
                    "name": "novel PH domain-containing protein",
                    "type": "synonym"
                },
                {
                    "name": "pleckstrin homology domain containing, family G (with RhoGef domain) member 5",
                    "type": "synonym"
                },
                {
                    "name": "pleckstrin homology domain-containing family G member 5 isoform a",
                    "type": "synonym"
                },
                {
                    "name": "pleckstrin homology domain-containing family G member 5",
                    "type": "synonym"
                },
                {
                    "name": "synectin-binding guanine exchange factor",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "PLEKHG5",
                    "type": "recommended"
                },
                {
                    "name": "ARHGEF45",
                    "type": "synonym"
                },
                {
                    "name": "CMTRIC",
                    "type": "synonym"
                },
                {
                    "name": "DSMA4",
                    "type": "synonym"
                },
                {
                    "name": "GEF720",
                    "type": "synonym"
                },
                {
                    "name": "HMNR4",
                    "type": "synonym"
                },
                {
                    "name": "KIAA0720",
                    "type": "synonym"
                },
                {
                    "name": "PLEKHG5",
                    "type": "synonym"
                },
                {
                    "name": "Syx",
                    "type": "synonym"
                },
                {
                    "name": "Tech",
                    "type": "synonym"
                }
            ],
            "record_id": "O94827-5",
            "evidence": [
                {
                    "id": "611067",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/611067"
                },
                {
                    "id": "0111213",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111213"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q6RFZ7-1",
            "uniprot_ac": "Q6RFZ7",
            "uniprot_id": "PKHG5_RAT",
            "refseq_ac": "NP_958429",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Pleckstrin homology domain-containing family G member 5",
                    "type": "recommended"
                },
                {
                    "name": "Neuronal RhoA GEF protein",
                    "type": "synonym"
                },
                {
                    "name": "PH domain-containing family G member 5",
                    "type": "synonym"
                },
                {
                    "name": "Transcript highly enriched in cortex and hippocampus",
                    "type": "synonym"
                },
                {
                    "name": "neuronal RhoA GEF protein",
                    "type": "synonym"
                },
                {
                    "name": "pleckstrin homology domain containing, family G (with RhoGef domain) member 5",
                    "type": "synonym"
                },
                {
                    "name": "pleckstrin homology domain-containing family G member 5 isoform 3",
                    "type": "synonym"
                },
                {
                    "name": "pleckstrin homology domain-containing family G member 5",
                    "type": "synonym"
                },
                {
                    "name": "transcript highly enriched in cortex and hippocampus",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Plekhg5",
                    "type": "recommended"
                },
                {
                    "name": "Plekhg5",
                    "type": "synonym"
                },
                {
                    "name": "Tech",
                    "type": "synonym"
                }
            ],
            "record_id": "Q6RFZ7-1",
            "evidence": [
                {
                    "id": "0111213",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111213"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9VW85-1",
            "uniprot_ac": "Q9VW85",
            "uniprot_id": "Q9VW85_DROME",
            "refseq_ac": "NP_649182",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "DH domain-containing protein",
                    "type": "recommended"
                },
                {
                    "name": "CG42674-PC",
                    "type": "synonym"
                },
                {
                    "name": "uncharacterized protein, isoform C",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "CG13811",
                    "type": "recommended"
                },
                {
                    "name": "CG13812",
                    "type": "recommended"
                },
                {
                    "name": "CG7323",
                    "type": "recommended"
                },
                {
                    "name": "CG13811",
                    "type": "synonym"
                },
                {
                    "name": "CG13812",
                    "type": "synonym"
                },
                {
                    "name": "CG32223",
                    "type": "synonym"
                },
                {
                    "name": "CG42348",
                    "type": "synonym"
                },
                {
                    "name": "CG42674",
                    "type": "synonym"
                },
                {
                    "name": "CG7323",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG42674",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG42674",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9VW85-1",
            "evidence": [
                {
                    "id": "0111213",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111213"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0111213"
}