{ "disease_id": "DOID:0080751", "recommended_name": { "id": "DOID:0080751", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0080751", "name": "keratosis pilaris atrophicans", "description": "An ichthyosis that is characterized by perifollicular keratosis and inflammation that progresses to atrophy and scarring of the facial skin." }, "synonyms": [ { "id": "MONDO:0018855", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0018855", "name": "keratosis pilaris atrophicans", "description": "An uncommon form of keratosis pilaris in which there are scar-like follicular depressions and loss of hair." }, { "id": "MONDO:0018855", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0018855", "name": "keratosis pilaris atrophicans", "description": "" }, { "id": "MONDO:0018855", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0018855", "name": "Atrophodermia reticulata", "description": "" }, { "id": "MONDO:0018855", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0018855", "name": "Atrophodermia reticulata symmetrica faciei", "description": "" }, { "id": "MONDO:0018855", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0018855", "name": "Atrophodermia vermiculata", "description": "" }, { "id": "MONDO:0018855", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0018855", "name": "KPA", "description": "" }, { "id": "MONDO:0018855", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0018855", "name": "amelogenesis imperfecta, hypoplastic-hypomaturation, X-linked 2", "description": "" }, { "id": "MONDO:0018855", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0018855", "name": "burnett Schwartz Berberian syndrome", "description": "" }, { "id": "MONDO:0018855", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0018855", "name": "folliculitis ulerythematosa", "description": "" }, { "id": "MONDO:0018855", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0018855", "name": "folliculitis ulerythematosa reticulata", "description": "" }, { "id": "MONDO:0018855", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0018855", "name": "honeycomb atrophy", "description": "" }, { "id": "MONDO:0018855", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0018855", "name": "keratosis pilaris", "description": "" }, { "id": "MONDO:0018855", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0018855", "name": "keratosis pilaris atrophicans facies", "description": "" }, { "id": "MONDO:0018855", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0018855", "name": "ulerythema ophryogenes", "description": "" }, { "id": "MONDO:0018855", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0018855", "name": "ulerythema ophryogenes with multiple congenital anomalies", "description": "" }, { "id": "MONDO:0018855", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0018855", "name": "ulerythema ophryogenesis", "description": "" }, { "id": "MIM:604093", "resource": "MIM", "url": "https://www.omim.org/entry/604093", "name": "Keratosis pilaris atrophicans", "description": "Keratosis pilaris atrophicans" } ], "children": [ { "id": "DOID:0080753", "label": "keratosis follicularis spinulosa decalvans", "link_status": true, "children": [ { "id": "DOID:0080754", "label": "X-linked keratosis follicularis spinulosa decalvans", "link_status": true, "children": [] } ] } ], "id_list": [ "DOID:0080754", "DOID:0080753", "DOID:0080751" ], "unlinked_id_list": [], "crossref": [ { "id": "DOID:0080751", "database": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0080751", "categories": [] }, { "id": "MONDO:0018855", "database": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0018855", "categories": [] }, { "id": "MIM:604093", "database": "MIM", "url": "https://www.omim.org/entry/604093", "categories": [] } ], "proteins": [ { "uniprot_canonical_ac": "A0A0B4KFD1-1", "uniprot_ac": "A0A0B4KFD1", "uniprot_id": "A0A0B4KFD1_DROME", "refseq_ac": "NP_001260800", "glycoprotein": "no", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "protein_names": [ { "name": "CG33087-PF; LRP1-PF; LDL-receptor-related protein 1; LDL receptor-related protein 1; LDL receptor protein", "resource": "RefSeq", "type": "synonym" }, { "name": "LDL receptor protein 1, isoform F", "resource": "RefSeq", "type": "synonym" }, { "name": "LDL receptor protein 1, isoform F", "resource": "UniProtKB", "type": "synonym" } ], "gene_names": [ { "name": "LRP1", "resource": "UniProtKB", "type": "recommended" }, { "name": "CG30368; CG33087; CG8706; CT9297; Dm CG33087; Dmel\\CG33087; dmLRP1; LRP-1; lrp1; Lrp1", "resource": "RefSeq", "type": "synonym" }, { "name": "CG30368", "resource": "UniProtKB", "type": "synonym" }, { "name": "CG33087", "resource": "UniProtKB", "type": "synonym" }, { "name": "CG8706", "resource": "UniProtKB", "type": "synonym" }, { "name": "CT9297", "resource": "UniProtKB", "type": "synonym" }, { "name": "Dm CG33087", "resource": "UniProtKB", "type": "synonym" }, { "name": "Dmel\\CG33087", "resource": "UniProtKB", "type": "synonym" }, { "name": "Dmel_CG33087", "resource": "UniProtKB", "type": "synonym" }, { "name": "LDLR", "resource": "UniProtKB", "type": "synonym" }, { "name": "LRP1", "resource": "RefSeq", "type": "synonym" }, { "name": "Lrp1", "resource": "UniProtKB", "type": "synonym" }, { "name": "lrp1", "resource": "UniProtKB", "type": "synonym" } ], "evidence": [ { "id": "0080751", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:0080751" } ] }, { "uniprot_canonical_ac": "Q91ZX7-1", "uniprot_ac": "Q91ZX7", "uniprot_id": "LRP1_MOUSE", "refseq_ac": "NP_032538", "glycoprotein": "yes", "species": [ { "name": "Mus musculus", "taxid": 10090, "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "protein_names": [ { "name": "Prolow-density lipoprotein receptor-related protein 1", "resource": "UniProtKB", "type": "recommended" }, { "name": "A2MR", "resource": "UniProtKB", "type": "synonym" }, { "name": "Alpha-2-macroglobulin receptor", "resource": "UniProtKB", "type": "synonym" }, { "name": "LRP-1", "resource": "UniProtKB", "type": "synonym" }, { "name": "prolow-density lipoprotein receptor-related protein 1 precursor", "resource": "RefSeq", "type": "synonym" }, { "name": "prolow-density lipoprotein receptor-related protein 1; alpha 2-macroglobulin receptor; LRP-1", "resource": "RefSeq", "type": "synonym" } ], "gene_names": [ { "name": "Lrp1", "resource": "UniProtKB", "type": "recommended" }, { "name": "A2mr; b2b1554Clo; CD91; Lrp", "resource": "RefSeq", "type": "synonym" }, { "name": "A2mr", "resource": "UniProtKB", "type": "synonym" }, { "name": "Lrp1", "resource": "RefSeq", "type": "synonym" } ], "evidence": [ { "id": "0080751", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:0080751" } ] }, { "uniprot_canonical_ac": "Q07954-1", "uniprot_ac": "Q07954", "uniprot_id": "LRP1_HUMAN", "refseq_ac": "NP_002323", "glycoprotein": "yes", "species": [ { "name": "Homo sapiens", "taxid": 9606, "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "protein_names": [ { "name": "Prolow-density lipoprotein receptor-related protein 1", "resource": "UniProtKB", "type": "recommended" }, { "name": "A2MR", "resource": "UniProtKB", "type": "synonym" }, { "name": "APOER", "resource": "UniProtKB", "type": "synonym" }, { "name": "Alpha-2-macroglobulin receptor", "resource": "UniProtKB", "type": "synonym" }, { "name": "Apolipoprotein E receptor", "resource": "UniProtKB", "type": "synonym" }, { "name": "LRP-1", "resource": "UniProtKB", "type": "synonym" }, { "name": "prolow-density lipoprotein receptor-related protein 1 preproprotein", "resource": "RefSeq", "type": "synonym" }, { "name": "type V tgf-beta receptor; prolow-density lipoprotein receptor-related protein 1; TbetaR-V/LRP-1/IGFBP-3 receptor; alpha-2-macroglobulin receptor; apolipoprotein E receptor; low density lipoprotein receptor-related protein 1", "resource": "RefSeq", "type": "synonym" } ], "gene_names": [ { "name": "LRP1", "resource": "UniProtKB", "type": "recommended" }, { "name": "A2MR; APOER; APR; CD91; DDH3; IGFBP-3R; IGFBP3R; IGFBP3R1; KPA; LRP; LRP1A; TGFBR5", "resource": "RefSeq", "type": "synonym" }, { "name": "A2MR", "resource": "UniProtKB", "type": "synonym" }, { "name": "APR", "resource": "UniProtKB", "type": "synonym" }, { "name": "LRP1", "resource": "RefSeq", "type": "synonym" } ], "evidence": [ { "id": "0080751", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:0080751" }, { "id": "604093", "database": "MIM", "url": "https://www.omim.org/entry/604093" } ] }, { "uniprot_canonical_ac": "A0A8M9PTJ2-1", "uniprot_ac": "A0A8M9PTJ2", "uniprot_id": "A0A8M9PTJ2_DANRE", "refseq_ac": "XP_021325646", "glycoprotein": "no", "species": [ { "name": "Danio rerio", "taxid": 7955, "common_name": "Zebrafish", "glygen_name": "Zebrafish", "reference_species": "Danio rerio [7955]" } ], "protein_names": [ { "name": "Low-density lipoprotein receptor-related protein 1 isoform X1", "resource": "UniProtKB", "type": "synonym" }, { "name": "low-density lipoprotein receptor-related protein 1 isoform X1", "resource": "RefSeq", "type": "synonym" } ], "gene_names": [ { "name": "lrp1ab", "resource": "UniProtKB", "type": "recommended" }, { "name": "lrp1ab", "resource": "RefSeq", "type": "synonym" } ], "evidence": [ { "id": "0080751", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:0080751" } ] }, { "uniprot_canonical_ac": "A0A8M9QD95-1", "uniprot_ac": "A0A8M9QD95", "uniprot_id": "A0A8M9QD95_DANRE", "refseq_ac": "XP_021335354", "glycoprotein": "yes", "species": [ { "name": "Danio rerio", "taxid": 7955, "common_name": "Zebrafish", "glygen_name": "Zebrafish", "reference_species": "Danio rerio [7955]" } ], "protein_names": [ { "name": "LOW QUALITY PROTEIN: low-density lipoprotein receptor-related protein 1", "resource": "RefSeq", "type": "synonym" }, { "name": "LOW QUALITY PROTEIN: low-density lipoprotein receptor-related protein 1", "resource": "UniProtKB", "type": "synonym" } ], "gene_names": [ { "name": "lrp1aa", "resource": "UniProtKB", "type": "recommended" }, { "name": "lrp1aa", "resource": "RefSeq", "type": "synonym" } ], "evidence": [ { "id": "0080751", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:0080751" } ] }, { "uniprot_canonical_ac": "G3V928-1", "uniprot_ac": "G3V928", "uniprot_id": "LRP1_RAT", "refseq_ac": "NP_001123962", "glycoprotein": "yes", "species": [ { "name": "Rattus norvegicus", "taxid": 10116, "common_name": "Rat", "glygen_name": "Rat", "reference_species": "Rattus norvegicus [10116]" } ], "protein_names": [ { "name": "Prolow-density lipoprotein receptor-related protein 1", "resource": "UniProtKB", "type": "recommended" }, { "name": "LRP-1", "resource": "UniProtKB", "type": "synonym" }, { "name": "prolow-density lipoprotein receptor-related protein 1 precursor", "resource": "RefSeq", "type": "synonym" }, { "name": "prolow-density lipoprotein receptor-related protein 1; low density lipoprotein-related protein 1 (alpha-2-macroglobulin receptor); low density lipoprotein receptor-related protein 1", "resource": "RefSeq", "type": "synonym" } ], "gene_names": [ { "name": "Lrp1", "resource": "UniProtKB", "type": "recommended" }, { "name": "LRP-1", "resource": "RefSeq", "type": "synonym" }, { "name": "Lrp1", "resource": "RefSeq", "type": "synonym" } ], "evidence": [ { "id": "0080751", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:0080751" } ] } ], "glycans": [], "biomarkers": [], "association_flag": "1000", "record_id": "doid.0080751" }