{ "disease_id": "DOID:0110518", "recommended_name": { "id": "DOID:0110518", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110518", "name": "autosomal recessive nonsyndromic deafness 67", "description": "An autosomal recessive nonsyndromic deafness that is characterized by prelingual onset with severe to profound, stable hearing loss and has_material_basis_in mutation in the LHFPL5 gene on chromosome 6p21." }, "synonyms": [ { "id": "DOID:0110518", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110518", "name": "DFNB67", "description": "" }, { "id": "DOID:0110518", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110518", "name": "autosomal recessive deafness 67", "description": "" }, { "id": "MONDO:0012460", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012460", "name": "autosomal recessive nonsyndromic hearing loss 67", "description": "Any autosomal recessive 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"resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012460", "name": "autosomal recessive nonsyndromic deafness caused by mutation in LHFPL5", "description": "" }, { "id": "MONDO:0012460", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012460", "name": "autosomal recessive nonsyndromic deafness type 67", "description": "" }, { "id": "MONDO:0012460", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012460", "name": "deafness, autosomal recessive 67", "description": "" }, { "id": "MONDO:0012460", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012460", "name": "deafness, autosomal recessive type 67", "description": "" }, { "id": "MIM:610265", "resource": "MIM", "url": "https://www.omim.org/entry/610265", "name": "Deafness, autosomal recessive, 67", "description": "Deafness, autosomal recessive, 67" } ], "children": [], "id_list": [ "DOID:0110518" ], "unlinked_id_list": [], "crossref": [ { "id": "DOID:0110518", "database": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110518", "categories": [] }, { "id": "MONDO:0012460", "database": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012460", "categories": [] }, { "id": "MIM:610265", "database": "MIM", "url": "https://www.omim.org/entry/610265", "categories": [] } ], "proteins": [ { "uniprot_canonical_ac": "B0UYJ1-1", "uniprot_ac": "B0UYJ1", "uniprot_id": "B0UYJ1_DANRE", "refseq_ac": "NP_001103583", "glycoprotein": "no", "species": [ { "name": "Danio rerio", "taxid": 7955, "common_name": "Zebrafish", "glygen_name": "Zebrafish", "reference_species": "Danio rerio [7955]" } ], "protein_names": [ { "name": "LHFPL tetraspan subfamily member 5b", "type": "synonym" }, { "name": "lipoma HMGIC fusion partner-like 5b", "type": "synonym" }, { "name": "lipoma HMGIC fusion partner-like 5", "type": "synonym" } ], "gene_names": [ { "name": "lhfpl5b", "type": "recommended" }, { "name": "lhfpl5b", "type": "synonym" }, { "name": "lhfpl5", "type": "synonym" }, { "name": "zgc:171589", "type": "synonym" } ], "record_id": "B0UYJ1-1", "evidence": [ { "id": "0110518", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110518" } ] }, { "uniprot_canonical_ac": "F1Q837-1", "uniprot_ac": "F1Q837", "uniprot_id": "F1Q837_DANRE", "refseq_ac": "XP_017213895", "glycoprotein": "no", "species": [ { "name": "Danio rerio", "taxid": 7955, "common_name": "Zebrafish", "glygen_name": "Zebrafish", "reference_species": "Danio rerio [7955]" } ], "protein_names": [ { "name": "LHFPL tetraspan subfamily member 5 protein", "type": "synonym" } ], "gene_names": [ { "name": "lhfpl5a", "type": "recommended" }, { "name": "lhfpl5a", "type": "synonym" } ], "record_id": "F1Q837-1", "evidence": [ { "id": "0110518", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110518" } ] }, { "uniprot_canonical_ac": "A0A8M3AUX7-1", "uniprot_ac": "A0A8M3AUX7", "uniprot_id": "A0A8M3AUX7_DANRE", "refseq_ac": "XP_009302025", "glycoprotein": "no", "species": [ { "name": "Danio rerio", "taxid": 7955, "common_name": "Zebrafish", "glygen_name": "Zebrafish", "reference_species": "Danio rerio [7955]" } ], "protein_names": [ { "name": "LHFPL tetraspan subfamily member 3 protein", "type": "synonym" } ], "gene_names": [ { "name": "lhfpl4b", "type": "recommended" }, { "name": "lhfpl4b", "type": "synonym" } ], "record_id": "A0A8M3AUX7-1", "evidence": [ { "id": "0110518", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110518" } ] }, { "uniprot_canonical_ac": "Q6DHB5-1", "uniprot_ac": "Q6DHB5", "uniprot_id": "LHPL3_DANRE", "refseq_ac": "NP_001003444", "glycoprotein": "no", "species": [ { "name": "Danio rerio", "taxid": 7955, "common_name": "Zebrafish", "glygen_name": "Zebrafish", "reference_species": "Danio rerio [7955]" } ], "protein_names": [ { "name": "LHFPL tetraspan subfamily member 3 protein", "type": "recommended" }, { "name": "LHFPL tetraspan subfamily member 3 protein", "type": "synonym" }, { "name": "Lipoma HMGIC fusion partner-like 3 protein", "type": "synonym" }, { "name": "lipoma HMGIC fusion partner-like 3 protein", "type": "synonym" } ], "gene_names": [ { "name": "lhfpl3", "type": "recommended" }, { "name": "lhfpl3", "type": "synonym" }, { "name": "zgc:92534", "type": "synonym" } ], "record_id": "Q6DHB5-1", "evidence": [ { "id": "0110518", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110518" } ] }, { "uniprot_canonical_ac": "A0A2R8RTK1-1", "uniprot_ac": "A0A2R8RTK1", "uniprot_id": "A0A2R8RTK1_DANRE", "refseq_ac": "XP_001922233", "glycoprotein": "no", "species": [ { "name": "Danio rerio", "taxid": 7955, "common_name": "Zebrafish", "glygen_name": "Zebrafish", "reference_species": "Danio rerio [7955]" } ], "protein_names": [ { "name": "LHFPL tetraspan subfamily member 4 protein isoform X4", "type": "synonym" } ], "gene_names": [ { "name": "lhfpl4a", "type": "recommended" }, { "name": "lhfpl4a", "type": "synonym" } ], "record_id": "A0A2R8RTK1-1", "evidence": [ { "id": "0110518", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110518" } ] }, { "uniprot_canonical_ac": "Q4KL25-1", "uniprot_ac": "Q4KL25", "uniprot_id": "LHPL5_MOUSE", "refseq_ac": "NP_080847", "glycoprotein": "no", "species": [ { "name": "Mus musculus", "taxid": 10090, "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "protein_names": [ { "name": "LHFPL tetraspan subfamily member 5 protein", "type": "recommended" }, { "name": "LHFPL tetraspan subfamily member 5 protein", "type": "synonym" }, { "name": "Lipoma HMGIC fusion partner-like 5 protein", "type": "synonym" }, { "name": "Tetraspan membrane protein of hair cell stereocilia", "type": "synonym" }, { "name": "lipoma HMGIC fusion partner-like 5 protein", "type": "synonym" }, { "name": "tetraspan membrane protein of hair cell stereocilia", "type": "synonym" }, { "name": "tetraspan transmembrane protein, hair cell stereocilia", "type": "synonym" } ], "gene_names": [ { "name": "Lhfpl5", "type": "recommended" }, { "name": "9330179O15Rik", "type": "synonym" }, { "name": "Lhfpl5", "type": "synonym" }, { "name": "Tmhs", "type": "synonym" }, { "name": "hscy", "type": "synonym" } ], "record_id": "Q4KL25-1", "evidence": [ { "id": "0110518", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110518" } ] }, { "uniprot_canonical_ac": "Q5U4E0-1", "uniprot_ac": "Q5U4E0", "uniprot_id": "LHPL4_MOUSE", "refseq_ac": "NP_808431", "glycoprotein": "yes", "species": [ { "name": "Mus musculus", "taxid": 10090, "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "protein_names": [ { "name": "LHFPL tetraspan subfamily member 4 protein", "type": "recommended" }, { "name": "GABAA receptor regulatory Lhfpl4", "type": "synonym" }, { "name": "LHFPL tetraspan subfamily member 4 protein", "type": "synonym" }, { "name": "Lipoma HMGIC fusion partner-like 4 protein", "type": "synonym" }, { "name": "lipoma HMGIC fusion partner-like 4 protein", "type": "synonym" } ], "gene_names": [ { "name": "Lhfpl4", "type": "recommended" }, { "name": "1190004M23Rik", "type": "synonym" }, { "name": "B230384L07", "type": "synonym" }, { "name": "Garlh4", "type": "synonym" }, { "name": "Kiaa4027", "type": "synonym" }, { "name": "Lh4", "type": "synonym" }, { "name": "Lhfpl4", "type": "synonym" }, { "name": "mKIAA4027", "type": "synonym" } ], "record_id": "Q5U4E0-1", "evidence": [ { "id": "0110518", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110518" } ] }, { "uniprot_canonical_ac": "Q9CTN8-1", "uniprot_ac": "Q9CTN8", "uniprot_id": "LHPL3_MOUSE", "refseq_ac": "NP_084266", "glycoprotein": "no", "species": [ { "name": "Mus musculus", "taxid": 10090, "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "protein_names": [ { "name": "LHFPL tetraspan subfamily member 3 protein", "type": "recommended" }, { "name": "LHFPL tetraspan subfamily member 3 protein isoform 1", "type": "synonym" }, { "name": "LHFPL tetraspan subfamily member 3 protein", "type": "synonym" }, { "name": "Lipoma HMGIC fusion partner-like 3 protein", "type": "synonym" }, { "name": "lipoma HMGIC fusion partner-like 3 protein", "type": "synonym" } ], "gene_names": [ { "name": "Lhfpl3", "type": "recommended" }, { "name": "A930031L14Rik", "type": "synonym" }, { "name": "Lhfpl3", "type": "synonym" } ], "record_id": "Q9CTN8-1", "evidence": [ { "id": "0110518", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110518" } ] }, { "uniprot_canonical_ac": "Q8TAF8-1", "uniprot_ac": "Q8TAF8", "uniprot_id": "LHPL5_HUMAN", "refseq_ac": "NP_872354", "glycoprotein": "no", "species": [ { "name": "Homo sapiens", "taxid": 9606, "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "protein_names": [ { "name": "LHFPL tetraspan subfamily member 5 protein", "type": "recommended" }, { "name": "LHFP-like protein 5", "type": "synonym" }, { "name": "LHFPL tetraspan subfamily member 5 protein", "type": "synonym" }, { "name": "Lipoma HMGIC fusion partner-like 5 protein", "type": "synonym" }, { "name": "Tetraspan membrane protein of hair cell stereocilia", "type": "synonym" }, { "name": "lipoma HMGIC fusion partner-like 5 protein", "type": "synonym" }, { "name": "tetraspan membrane protein of hair cell stereocilia", "type": "synonym" } ], "gene_names": [ { "name": "LHFPL5", "type": "recommended" }, { "name": "DFNB67", "type": "synonym" }, { "name": "LHFPL5", "type": "synonym" }, { "name": "TMHS", "type": "synonym" }, { "name": "dJ510O8.8", "type": "synonym" } ], "record_id": "Q8TAF8-1", "evidence": [ { "id": "610265", "database": "MIM", "url": "https://www.omim.org/entry/610265" }, { "id": "0110518", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110518" } ] }, { "uniprot_canonical_ac": "Q5PPI7-1", "uniprot_ac": "Q5PPI7", "uniprot_id": "LHPL5_RAT", "refseq_ac": "NP_001013928", "glycoprotein": "no", "species": [ { "name": "Rattus norvegicus", "taxid": 10116, "common_name": "Rat", "glygen_name": "Rat", "reference_species": "Rattus norvegicus [10116]" } ], "protein_names": [ { "name": "LHFPL tetraspan subfamily member 5 protein", "type": "recommended" }, { "name": "LHFPL tetraspan subfamily member 5 protein", "type": "synonym" }, { "name": "Lipoma HMGIC fusion partner-like 5 protein", "type": "synonym" }, { "name": "Tetraspan membrane protein of hair cell stereocilia", "type": "synonym" }, { "name": "lipoma HMGIC fusion partner-like 5 protein", "type": "synonym" }, { "name": "tetraspan membrane protein of hair cell stereocilia", "type": "synonym" }, { "name": "tetraspan transmembrane protein, hair cell stereocilia", "type": "synonym" } ], "gene_names": [ { "name": "Lhfpl5", "type": "recommended" }, { "name": "Lhfpl5", "type": "synonym" }, { "name": "Tmhs", "type": "synonym" } ], "record_id": "Q5PPI7-1", "evidence": [ { "id": "0110518", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110518" } ] }, { "uniprot_canonical_ac": "Q7TSY2-1", "uniprot_ac": "Q7TSY2", "uniprot_id": "LHPL4_RAT", "refseq_ac": "NP_852052", "glycoprotein": "no", "species": [ { "name": "Rattus norvegicus", "taxid": 10116, "common_name": "Rat", "glygen_name": "Rat", "reference_species": "Rattus norvegicus [10116]" } ], "protein_names": [ { "name": "LHFPL tetraspan subfamily member 4 protein", "type": "recommended" }, { "name": "HMGIC fusion partner-like protein 4", "type": "synonym" }, { "name": "LHFPL tetraspan subfamily member 4 protein", "type": "synonym" }, { "name": "Lipoma HMGIC fusion partner-like 4 protein", "type": "synonym" }, { "name": "lipoma HMGIC fusion partner-like 4 protein", "type": "synonym" }, { "name": "lipoma HMGIC fusion partner-like protein 4", "type": "synonym" } ], "gene_names": [ { "name": "Lhfpl4", "type": "recommended" }, { "name": "Lhfpl4", "type": "synonym" } ], "record_id": "Q7TSY2-1", "evidence": [ { "id": "0110518", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110518" } ] }, { "uniprot_canonical_ac": "Q9W068-1", "uniprot_ac": "Q9W068", "uniprot_id": "Q9W068_DROME", "refseq_ac": "NP_647674", "glycoprotein": "no", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "protein_names": [ { "name": "CG12026-PA", "type": "synonym" }, { "name": "Tetraspan membrane protein in hair cell stereocilia, isoform A", "type": "synonym" }, { "name": "Tetraspan membrane protein in hair cell stereocilia, isoform B", "type": "synonym" }, { "name": "Tmhs-PA", "type": "synonym" }, { "name": "tetraspan membrane protein in hair cell stereocilia ortholog", "type": "synonym" }, { "name": "tetraspan membrane protein in hair cell stereocilia, isoform A", "type": "synonym" }, { "name": "tetraspan membrane protein in hair cell stereocilia", "type": "synonym" } ], "gene_names": [ { "name": "Tmhs", "type": "recommended" }, { "name": "CG12026", "type": "synonym" }, { "name": "Dmel\\CG12026", "type": "synonym" }, { "name": "Dmel_CG12026", "type": "synonym" }, { "name": "TMHS", "type": "synonym" }, { "name": "Tmhs", "type": "synonym" } ], "record_id": "Q9W068-1", "evidence": [ { "id": "0110518", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110518" } ] }, { "uniprot_canonical_ac": "Q86UP9-1", "uniprot_ac": "Q86UP9", "uniprot_id": "LHPL3_HUMAN", "refseq_ac": "NP_945351", "glycoprotein": "no", "species": [ { "name": "Homo sapiens", "taxid": 9606, "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "protein_names": [ { "name": "LHFPL tetraspan subfamily member 3 protein", "type": "recommended" }, { "name": "LHFP-like protein 3", "type": "synonym" }, { "name": "LHFPL tetraspan subfamily member 3 protein isoform 1", "type": "synonym" }, { "name": "LHFPL tetraspan subfamily member 3 protein", "type": "synonym" }, { "name": "Lipoma HMGIC fusion partner-like 3 protein", "type": "synonym" }, { "name": "lipoma HMGIC fusion partner-like 3 protein", "type": "synonym" }, { "name": "lipoma HMGIC fusion partner-like 4", "type": "synonym" } ], "gene_names": [ { "name": "LHFPL3", "type": "recommended" }, { "name": "LHFPL3", "type": "synonym" }, { "name": "LHFPL4", "type": "synonym" } ], "record_id": "Q86UP9-1", "evidence": [ { "id": "0110518", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110518" } ] }, { "uniprot_canonical_ac": "Q7Z7J7-1", "uniprot_ac": "Q7Z7J7", "uniprot_id": "LHPL4_HUMAN", "refseq_ac": "NP_940962", "glycoprotein": "no", "species": [ { "name": "Homo sapiens", "taxid": 9606, "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "protein_names": [ { "name": "LHFPL tetraspan subfamily member 4 protein", "type": "recommended" }, { "name": "GABAA receptor regulatory Lhfpl4", "type": "synonym" }, { "name": "LHFP-like protein 4", "type": "synonym" }, { "name": "LHFPL tetraspan subfamily member 4 protein", "type": "synonym" }, { "name": "Lipoma HMGIC fusion partner-like 4 protein", "type": "synonym" }, { "name": "lipoma HMGIC fusion partner-like 4 protein", "type": "synonym" } ], "gene_names": [ { "name": "LHFPL4", "type": "recommended" }, { "name": "GARLH4", "type": "synonym" }, { "name": "LHFPL4", "type": "synonym" } ], "record_id": "Q7Z7J7-1", "evidence": [ { "id": "0110518", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110518" } ] } ], "glycans": [], "biomarkers": [], "association_flag": "1000", "record_id": "doid.0110518" }