{ "disease_id": "DOID:0060935", "recommended_name": { "id": "DOID:0060935", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0060935", "name": "infantile hypotonia with psychomotor retardation and characteristic facies-3", "description": "An autosomal recessive intellectual developmental disorder characterized by very poor, if any, psychomotor development, poor speech, inability to walk independently and onset at birth or in early infancy that has_material_basis_in homozygous or compound heterozygous mutation in the TBCK gene on chromosome 4q24." }, "synonyms": [ { "id": "DOID:0060935", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0060935", "name": "IHPRF3", "description": "" }, { "id": "DOID:0060935", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0060935", "name": "TBCK-related intellectual disability syndrome", "description": "" }, { "id": "DOID:0060935", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0060935", "name": "HYPOTONIA, INFANTILE, WITH PSYCHOMOTOR RETARDATION AND CHARACTERISTIC FACIES 3", "description": "" }, { "id": "MONDO:0014823", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014823", "name": "hypotonia, infantile, with psychomotor retardation and characteristic facies 3", "description": "A rare, genetic, syndromic intellectual disability characterized by usually profound intellectual disability with absent speech, severe infantile hypotonia with decreased or absent reflexes, markedly slow motor development (with no progress beyond the ability to sit independently), early-onset epilepsy, strabismus and post-natal onset of progressive brain atrophy (incl. loss of brain volume, ex vacuo ventriculomegaly, dysgenesis of corpus callosum, white matter abnormalities ranging from non-specific changes to leukodystrophy). Swallowing difficulties, respiratory insufficiency, osteoporosis and variable craniofacial dysmorphisms (incl. plagio/brachicephaly, bitemporal narrowing, high-arched eyebrows, high nasal bridge, anteverted nares, high palate, tented upper lip) may constitute additional clinical features." }, { "id": "MONDO:0014823", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014823", "name": "IHPRF3", "description": "" }, { "id": "MONDO:0014823", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014823", "name": "hypotonia, infantile, with psychomotor retardation and characteristic facies 3", "description": "" }, { "id": "MONDO:0014823", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014823", "name": "hypotonia, infantile, with psychomotor retardation and characteristic facies type 3", "description": "" }, { "id": "MIM:616900", "resource": "MIM", "url": "https://www.omim.org/entry/616900", "name": "Hypotonia, infantile, with psychomotor retardation and characteristic facies 3", "description": "Hypotonia, infantile, with psychomotor retardation and characteristic facies 3" } ], "children": [], "id_list": [ "DOID:0060935" ], "unlinked_id_list": [], "crossref": [ { "id": "DOID:0060935", "database": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0060935", "categories": [] }, { "id": "MONDO:0014823", "database": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014823", "categories": [] }, { "id": "MIM:616900", "database": "MIM", "url": "https://www.omim.org/entry/616900", "categories": [] } ], "proteins": [ { "uniprot_canonical_ac": "E7F1V3-1", "uniprot_ac": "E7F1V3", "uniprot_id": "E7F1V3_DANRE", "refseq_ac": "NP_001074106", "glycoprotein": "yes", "species": [ { "name": "Danio rerio", "taxid": 7955, "common_name": "Zebrafish", "glygen_name": "Zebrafish", "reference_species": "Danio rerio [7955]" } ], "protein_names": [ { "name": "TBC domain-containing protein kinase-like protein", "type": "recommended" }, { "name": "TBC domain-containing protein kinase-like protein", "type": "synonym" } ], "gene_names": [ { "name": "tbck", "type": "recommended" }, { "name": "im:7138354", "type": "synonym" }, { "name": "tbck", "type": "synonym" }, { "name": "wu:fc74a10", "type": "synonym" }, { "name": "zgc:158710", "type": "synonym" } ], "record_id": "E7F1V3-1", "evidence": [ { "id": "0060935", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060935" } ] }, { "uniprot_canonical_ac": "Q8BM85-1", "uniprot_ac": "Q8BM85", "uniprot_id": "TBCK_MOUSE", "refseq_ac": "NP_001156927", "glycoprotein": "no", "species": [ { "name": "Mus musculus", "taxid": 10090, "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "protein_names": [ { "name": "TBC domain-containing protein kinase-like protein", "type": "recommended" }, { "name": "FERRY endosomal RAB5A effector complex subunit 1", "type": "synonym" }, { "name": "TBC domain-containing protein kinase-like protein", "type": "synonym" } ], "gene_names": [ { "name": "Tbck", "type": "recommended" }, { "name": "1700120J03Rik", "type": "synonym" }, { "name": "9430001M19", "type": "synonym" }, { "name": "A630047E20Rik", "type": "synonym" }, { "name": "C030007I09Rik", "type": "synonym" }, { "name": "Tbckl", "type": "synonym" }, { "name": "Tbck", "type": "synonym" } ], "record_id": "Q8BM85-1", "evidence": [ { "id": "0060935", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060935" } ] }, { "uniprot_canonical_ac": "Q8TEA7-1", "uniprot_ac": "Q8TEA7", "uniprot_id": "TBCK_HUMAN", "refseq_ac": "NP_001156907", "glycoprotein": "yes", "species": [ { "name": "Homo sapiens", "taxid": 9606, "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "protein_names": [ { "name": "TBC domain-containing protein kinase-like protein", "type": "recommended" }, { "name": "FERRY endosomal RAB5 effector complex subunit 1", "type": "synonym" }, { "name": "Fy-1", "type": "synonym" }, { "name": "TBC domain-containing protein kinase-like protein isoform a", "type": "synonym" }, { "name": "TBC domain-containing protein kinase-like protein", "type": "synonym" } ], "gene_names": [ { "name": "TBCK", "type": "recommended" }, { "name": "FERRY1", "type": "synonym" }, { "name": "Fy-1", "type": "synonym" }, { "name": "HSPC302", "type": "synonym" }, { "name": "IHPRF3", "type": "synonym" }, { "name": "TBCKL", "type": "synonym" }, { "name": "TBCK", "type": "synonym" } ], "record_id": "Q8TEA7-1", "evidence": [ { "id": "616900", "database": "MIM", "url": "https://www.omim.org/entry/616900" }, { "id": "0060935", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060935" } ] }, { "uniprot_canonical_ac": "A0A8I6ALH8-1", "uniprot_ac": "A0A8I6ALH8", "uniprot_id": "A0A8I6ALH8_RAT", "refseq_ac": "", "glycoprotein": "no", "species": [ { "name": "Rattus norvegicus", "taxid": 10116, "common_name": "Rat", "glygen_name": "Rat", "reference_species": "Rattus norvegicus [10116]" } ], "protein_names": [ { "name": "TBC domain-containing protein kinase-like protein", "type": "recommended" } ], "gene_names": [ { "name": "Tbck", "type": "recommended" } ], "record_id": "A0A8I6ALH8-1", "evidence": [ { "id": "0060935", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060935" } ] }, { "uniprot_canonical_ac": "Q9W4F8-1", "uniprot_ac": "Q9W4F8", "uniprot_id": "Q9W4F8_DROME", "refseq_ac": "NP_572197", "glycoprotein": "no", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "protein_names": [ { "name": "TBC domain-containing protein kinase-like protein", "type": "recommended" }, { "name": "CG4041-PB", "type": "synonym" }, { "name": "uncharacterized protein", "type": "synonym" } ], "gene_names": [ { "name": "Dmel\\CG4041", "type": "recommended" }, { "name": "CG4041", "type": "synonym" }, { "name": "Dmel\\CG4041", "type": "synonym" }, { "name": "Dmel_CG4041", "type": "synonym" } ], "record_id": "Q9W4F8-1", "evidence": [ { "id": "0060935", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060935" } ] } ], "glycans": [], "biomarkers": [], "association_flag": "1000", "record_id": "doid.0060935" }