{ "disease_id": "DOID:0060713", "recommended_name": { "id": "DOID:0060713", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0060713", "name": "autosomal recessive congenital ichthyosis 4B", "description": "An autosomal recessive congenital ichthyosis characterized by severe neonatal ichthyosis with bilateral ectropion and eclabium, flattened and rudimentary nose and ears, constricting bands around the extremities and frequently lethality during infancy that has_material_basis_in homozygous or compound heterozygous mutation in the ABCA12 gene on chromosome 2q35." }, "synonyms": [ { "id": "DOID:0060713", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0060713", "name": "ARCI4B", "description": "" }, { "id": "DOID:0060713", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0060713", "name": "harlequin ichthyosis", "description": "" }, { "id": "DOID:0060713", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0060713", "name": "harlequin type ichthyosis congenita", "description": "" }, { "id": "DOID:0060713", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0060713", "name": "harlequin type ichthyosis fetalis", "description": "" }, { "id": "MONDO:0009443", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009443", "name": "autosomal recessive congenital ichthyosis 4B", "description": "Harlequin ichthyosis (HI) is the most severe variant of autosomal recessive congenital ichthyosis (ARCI). It is characterized at birth by the presence of large, thick, plate-like scales over the whole body associated with severe ectropion, eclabium, and flattened ears, that later develops into a severe scaling erythroderma." }, { "id": "MONDO:0009443", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009443", "name": "ARCI4B", "description": "" }, { "id": "MONDO:0009443", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009443", "name": "HI", "description": "" }, { "id": "MONDO:0009443", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009443", "name": "Harlequin Ichthyosis", "description": "" }, { "id": "MONDO:0009443", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009443", "name": "autosomal recessive congenital ichthyosis type 4B", "description": "" }, { "id": "MONDO:0009443", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009443", "name": "harlequin ichthyosis", "description": "" }, { "id": "MONDO:0009443", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009443", "name": "hi", "description": "" }, { "id": "MONDO:0009443", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009443", "name": "ichthyosis , congenital, autosomal recessive 4b (harlequin)", "description": "" }, { "id": "MONDO:0009443", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009443", "name": "ichthyosis congenita, Harlequin type", "description": "" }, { "id": "MONDO:0009443", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009443", "name": "ichthyosis fetalis, Harlequin type", "description": "" }, { "id": "MONDO:0009443", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009443", "name": "ichthyosis, congenital, autosomal recessive type 4B", "description": "" }, { "id": "MONDO:0009443", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009443", "name": "Harlequin fetus", "description": "" }, { "id": "MONDO:0009443", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009443", "name": "Harlequin foetus", "description": "" }, { "id": "MONDO:0009443", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009443", "name": "ichthyosis congenita, Harlequin foetus type", "description": "" }, { "id": "MONDO:0009443", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009443", "name": "ichthyosis, congenital, autosomal recessive 4B", "description": "" }, { "id": "MIM:242500", "resource": "MIM", "url": "https://www.omim.org/entry/242500", "name": "Ichthyosis, congenital, autosomal recessive 4B", "description": "Ichthyosis, congenital, autosomal recessive 4B" } ], "children": [], "id_list": [ "DOID:0060713" ], "unlinked_id_list": [], "crossref": [ { "id": "DOID:0060713", "database": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0060713", "categories": [] }, { "id": "MONDO:0009443", "database": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009443", "categories": [] }, { "id": "MIM:242500", "database": "MIM", "url": "https://www.omim.org/entry/242500", "categories": [] } ], "proteins": [ { "uniprot_canonical_ac": "A0A8N7T793-1", "uniprot_ac": "A0A8N7T793", "uniprot_id": "A0A8N7T793_DANRE", "refseq_ac": "XP_686632", "glycoprotein": "yes", "species": [ { "name": "Danio rerio", "taxid": 7955, "common_name": "Zebrafish", "glygen_name": "Zebrafish", "reference_species": "Danio rerio [7955]" } ], "protein_names": [ { "name": "Uncharacterized protein abca12", "type": "synonym" }, { "name": "uncharacterized protein abca12", "type": "synonym" } ], "gene_names": [ { "name": "abca12", "type": "recommended" }, { "name": "abca12", "type": "synonym" } ], "record_id": "A0A8N7T793-1", "evidence": [ { "id": "0060713", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060713" } ] }, { "uniprot_canonical_ac": "B0S6Z8-1", "uniprot_ac": "B0S6Z8", "uniprot_id": "B0S6Z8_DANRE", "refseq_ac": "NP_001119918", "glycoprotein": "no", "species": [ { "name": "Danio rerio", "taxid": 7955, "common_name": "Zebrafish", "glygen_name": "Zebrafish", "reference_species": "Danio rerio [7955]" } ], "protein_names": [ { "name": "Phosphatidylinositol N-acetylglucosaminyltransferase subunit A", "type": "recommended" }, { "name": "2.4.1.198", "type": "synonym" }, { "name": "GlcNAc-PI synthesis protein", "type": "synonym" }, { "name": "Phosphatidylinositol-glycan biosynthesis class A protein", "type": "synonym" }, { "name": "phosphatidylinositol N-acetylglucosaminyltransferase subunit A", "type": "synonym" } ], "gene_names": [ { "name": "piga", "type": "recommended" }, { "name": "im:6911675", "type": "synonym" }, { "name": "piga", "type": "synonym" }, { "name": "zgc:56589", "type": "synonym" } ], "record_id": "B0S6Z8-1", "evidence": [ { "id": "0060713", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060713" } ] }, { "uniprot_canonical_ac": "E9Q876-1", "uniprot_ac": "E9Q876", "uniprot_id": "ABCAC_MOUSE", "refseq_ac": "NP_780419", "glycoprotein": "yes", "species": [ { "name": "Mus musculus", "taxid": 10090, "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "protein_names": [ { "name": "Glucosylceramide transporter ABCA12", "type": "recommended" }, { "name": "7.6.2.1", "type": "synonym" }, { "name": "ATP-binding cassette sub-family A member 12", "type": "synonym" }, { "name": "ATP-binding cassette, sub-family A (ABC1), member 12", "type": "synonym" }, { "name": "glucosylceramide transporter ABCA12", "type": "synonym" } ], "gene_names": [ { "name": "Abca12", "type": "recommended" }, { "name": "4832428G11Rik", "type": "synonym" }, { "name": "4833417A11Rik", "type": "synonym" }, { "name": "Abca12", "type": "synonym" } ], "record_id": "E9Q876-1", "evidence": [ { "id": "0060713", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060713" } ] }, { "uniprot_canonical_ac": "Q64323-1", "uniprot_ac": "Q64323", "uniprot_id": "PIGA_MOUSE", "refseq_ac": "NP_035211", "glycoprotein": "no", "species": [ { "name": "Mus musculus", "taxid": 10090, "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "protein_names": [ { "name": "Phosphatidylinositol N-acetylglucosaminyltransferase subunit A", "type": "recommended" }, { "name": "2.4.1.198", "type": "synonym" }, { "name": "GlcNAc-PI synthesis protein", "type": "synonym" }, { "name": "N-acetylglucosaminyl-phosphatidylinositol biosynthetic protein", "type": "synonym" }, { "name": "PIG-A", "type": "synonym" }, { "name": "Phosphatidylinositol-glycan biosynthesis class A protein", "type": "synonym" }, { "name": "glcNAc-PI synthesis protein", "type": "synonym" }, { "name": "phosphatidylinositol N-acetylglucosaminyltransferase subunit A", "type": "synonym" }, { "name": "phosphatidylinositol glycan, class A", "type": "synonym" }, { "name": "phosphatidylinositol-glycan biosynthesis class A protein", "type": "synonym" }, { "name": "phosphatidylinositolglycan class A", "type": "synonym" } ], "gene_names": [ { "name": "Piga", "type": "recommended" }, { "name": "Pig-a", "type": "synonym" }, { "name": "Piga", "type": "synonym" } ], "record_id": "Q64323-1", "evidence": [ { "id": "0060713", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060713" } ] }, { "uniprot_canonical_ac": "Q9ESD1-1", "uniprot_ac": "Q9ESD1", "uniprot_id": "PRSS8_MOUSE", "refseq_ac": "", "glycoprotein": "yes", "species": [ { "name": "Mus musculus", "taxid": 10090, "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "protein_names": [ { "name": "Prostasin", "type": "recommended" }, { "name": "3.4.21.-", "type": "synonym" }, { "name": "CAP1", "type": "synonym" }, { "name": "Channel-activating protease 1", "type": "synonym" }, { "name": "Serine protease 8", "type": "synonym" } ], "gene_names": [ { "name": "Prss8", "type": "recommended" }, { "name": "Cap1", "type": "synonym" } ], "record_id": "Q9ESD1-1", "evidence": [ { "id": "0060713", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060713" } ] }, { "uniprot_canonical_ac": "Q86UK0-1", "uniprot_ac": "Q86UK0", "uniprot_id": "ABCAC_HUMAN", "refseq_ac": "NP_056472", "glycoprotein": "yes", "species": [ { "name": "Homo sapiens", "taxid": 9606, "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "protein_names": [ { "name": "Glucosylceramide transporter ABCA12", "type": "recommended" }, { "name": "7.6.2.1", "type": "synonym" }, { "name": "ATP-binding cassette 12", "type": "synonym" }, { "name": "ATP-binding cassette sub-family A member 12", "type": "synonym" }, { "name": "ATP-binding cassette transporter 12", "type": "synonym" }, { "name": "ATP-binding cassette, sub-family A (ABC1), member 12", "type": "synonym" }, { "name": "glucosylceramide transporter ABCA12 isoform b", "type": "synonym" }, { "name": "glucosylceramide transporter ABCA12", "type": "synonym" } ], "gene_names": [ { "name": "ABCA12", "type": "recommended" }, { "name": "ABC12", "type": "synonym" }, { "name": "ABCA12", "type": "synonym" }, { "name": "ARCI4A", "type": "synonym" }, { "name": "ARCI4B", "type": "synonym" }, { "name": "ICR2B", "type": "synonym" }, { "name": "LI2", "type": "synonym" } ], "record_id": "Q86UK0-1", "evidence": [ { "id": "242500", "database": "MIM", "url": "https://www.omim.org/entry/242500" }, { "id": "0060713", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060713" } ] }, { "uniprot_canonical_ac": "P32363-1", "uniprot_ac": "P32363", "uniprot_id": "GPI3_YEAST", "refseq_ac": "NP_015150", "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": "Phosphatidylinositol N-acetylglucosaminyltransferase GPI3 subunit", "type": "recommended" }, { "name": "2.4.1.198", "type": "synonym" }, { "name": "GPI-GlcNAc transferase complex subunit GPI3", "type": "synonym" }, { "name": "GPI-GnT subunit GPI3", "type": "synonym" }, { "name": "GlcNAc-PI synthesis protein", "type": "synonym" }, { "name": "phosphatidylinositol N-acetylglucosaminyltransferase SPT14", "type": "synonym" } ], "gene_names": [ { "name": "SPT14", "type": "recommended" }, { "name": "CWH6", "type": "synonym" }, { "name": "GPI3", "type": "synonym" }, { "name": "P2269", "type": "synonym" }, { "name": "SPT14", "type": "synonym" } ], "record_id": "P32363-1", "evidence": [ { "id": "0060713", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060713" } ] }, { "uniprot_canonical_ac": "D4A7J3-1", "uniprot_ac": "D4A7J3", "uniprot_id": "D4A7J3_RAT", "refseq_ac": "NP_001414620", "glycoprotein": "yes", "species": [ { "name": "Rattus norvegicus", "taxid": 10116, "common_name": "Rat", "glygen_name": "Rat", "reference_species": "Rattus norvegicus [10116]" } ], "protein_names": [ { "name": "ATP binding cassette subfamily A member 12", "type": "synonym" }, { "name": "ATP-binding cassette sub-family A member 12", "type": "synonym" }, { "name": "ATP-binding cassette, sub-family A (ABC1), member 12", "type": "synonym" }, { "name": "ATP-binding cassette, subfamily A (ABC1), member 12", "type": "synonym" }, { "name": "glucosylceramide transporter ABCA12", "type": "synonym" } ], "gene_names": [ { "name": "Abca12", "type": "recommended" }, { "name": "Abca12", "type": "synonym" } ], "record_id": "D4A7J3-1", "evidence": [ { "id": "0060713", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060713" } ] }, { "uniprot_canonical_ac": "A0A8I6ADP6-1", "uniprot_ac": "A0A8I6ADP6", "uniprot_id": "A0A8I6ADP6_RAT", "refseq_ac": "NP_001387965", "glycoprotein": "no", "species": [ { "name": "Rattus norvegicus", "taxid": 10116, "common_name": "Rat", "glygen_name": "Rat", "reference_species": "Rattus norvegicus [10116]" } ], "protein_names": [ { "name": "Phosphatidylinositol N-acetylglucosaminyltransferase subunit A", "type": "recommended" }, { "name": "2.4.1.198", "type": "synonym" }, { "name": "GlcNAc-PI synthesis protein", "type": "synonym" }, { "name": "N-acetylglucosaminyl-phosphatidylinositol biosynthetic protein", "type": "synonym" }, { "name": "Phosphatidylinositol-glycan biosynthesis class A protein", "type": "synonym" }, { "name": "phosphatidylinositol N-acetylglucosaminyltransferase subunit A isoform 1", "type": "synonym" }, { "name": "phosphatidylinositol N-acetylglucosaminyltransferase subunit A", "type": "synonym" }, { "name": "phosphatidylinositol glycan, class A", "type": "synonym" } ], "gene_names": [ { "name": "Piga", "type": "recommended" }, { "name": "Piga", "type": "synonym" } ], "record_id": "A0A8I6ADP6-1", "evidence": [ { "id": "0060713", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060713" } ] }, { "uniprot_canonical_ac": "Q9ES87-1", "uniprot_ac": "Q9ES87", "uniprot_id": "PRSS8_RAT", "refseq_ac": "NP_620191", "glycoprotein": "yes", "species": [ { "name": "Rattus norvegicus", "taxid": 10116, "common_name": "Rat", "glygen_name": "Rat", "reference_species": "Rattus norvegicus [10116]" } ], "protein_names": [ { "name": "Prostasin", "type": "recommended" }, { "name": "3.4.21.-", "type": "synonym" }, { "name": "CAP1", "type": "synonym" }, { "name": "Channel-activating protease 1", "type": "synonym" }, { "name": "Serine protease 8", "type": "synonym" }, { "name": "channel-activating protease 1", "type": "synonym" }, { "name": "prostasin precursor", "type": "synonym" }, { "name": "prostasin", "type": "synonym" }, { "name": "protease, serine, 8", "type": "synonym" } ], "gene_names": [ { "name": "Prss8", "type": "recommended" }, { "name": "CAP1", "type": "synonym" }, { "name": "Prss8", "type": "synonym" } ], "record_id": "Q9ES87-1", "evidence": [ { "id": "0060713", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060713" } ] }, { "uniprot_canonical_ac": "X2JG15-1", "uniprot_ac": "X2JG15", "uniprot_id": "X2JG15_DROME", "refseq_ac": "NP_001285513", "glycoprotein": "no", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "protein_names": [ { "name": "CG34120-PE", "type": "synonym" }, { "name": "Lipid droplet defective, isoform E", "type": "synonym" }, { "name": "ldd-PE", "type": "synonym" }, { "name": "lipid droplet defective, isoform E", "type": "synonym" } ], "gene_names": [ { "name": "ldd", "type": "recommended" }, { "name": "BcDNA:AT04622", "type": "synonym" }, { "name": "CG1819", "type": "synonym" }, { "name": "CG32516", "type": "synonym" }, { "name": "CG34120", "type": "synonym" }, { "name": "DmCG1819", "type": "synonym" }, { "name": "Dmel\\CG34120", "type": "synonym" }, { "name": "Dmel_CG34120", "type": "synonym" }, { "name": "ldd", "type": "synonym" } ], "record_id": "X2JG15-1", "evidence": [ { "id": "0060713", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060713" } ] }, { "uniprot_canonical_ac": "Q15828-1", "uniprot_ac": "Q15828", "uniprot_id": "CYTM_HUMAN", "refseq_ac": "NP_001314", "glycoprotein": "yes", "species": [ { "name": "Homo sapiens", "taxid": 9606, "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "protein_names": [ { "name": "Cystatin-M", "type": "recommended" }, { "name": "Cystatin-6", "type": "synonym" }, { "name": "Cystatin-E", "type": "synonym" }, { "name": "cystatin 6", "type": "synonym" }, { "name": "cystatin M/E", "type": "synonym" }, { "name": "cystatin-E", "type": "synonym" }, { "name": "cystatin-M precursor", "type": "synonym" }, { "name": "cystatin-M", "type": "synonym" }, { "name": "cysteine proteinase inhibitor", "type": "synonym" } ], "gene_names": [ { "name": "CST6", "type": "recommended" }, { "name": "CST6", "type": "synonym" }, { "name": "ECTD15", "type": "synonym" } ], "record_id": "Q15828-1", "evidence": [ { "id": "0060713", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060713" } ] }, { "uniprot_canonical_ac": "Q16651-1", "uniprot_ac": "Q16651", "uniprot_id": "PRSS8_HUMAN", "refseq_ac": "NP_002764", "glycoprotein": "yes", "species": [ { "name": "Homo sapiens", "taxid": 9606, "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "protein_names": [ { "name": "Prostasin", "type": "recommended" }, { "name": "3.4.21.-", "type": "synonym" }, { "name": "CAP1", "type": "synonym" }, { "name": "Channel-activating protease 1", "type": "synonym" }, { "name": "Serine protease 8", "type": "synonym" }, { "name": "channel-activating protease 1", "type": "synonym" }, { "name": "channel-activating serine protease 1", "type": "synonym" }, { "name": "prostasin preproprotein", "type": "synonym" }, { "name": "protease, serine 8", "type": "synonym" } ], "gene_names": [ { "name": "PRSS8", "type": "recommended" }, { "name": "CAP1", "type": "synonym" }, { "name": "PROSTASIN", "type": "synonym" }, { "name": "PRSS8", "type": "synonym" } ], "record_id": "Q16651-1", "evidence": [ { "id": "0060713", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060713" } ] }, { "uniprot_canonical_ac": "P37287-1", "uniprot_ac": "P37287", "uniprot_id": "PIGA_HUMAN", "refseq_ac": "NP_002632", "glycoprotein": "yes", "species": [ { "name": "Homo sapiens", "taxid": 9606, "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "protein_names": [ { "name": "Phosphatidylinositol N-acetylglucosaminyltransferase subunit A", "type": "recommended" }, { "name": "2.4.1.198", "type": "synonym" }, { "name": "GLCNAC-PI synthesis protein", "type": "synonym" }, { "name": "GPI anchor biosynthesis", "type": "synonym" }, { "name": "GlcNAc-PI synthesis protein", "type": "synonym" }, { "name": "PIG-A", "type": "synonym" }, { "name": "Phosphatidylinositol-glycan biosynthesis class A protein", "type": "synonym" }, { "name": "class A GlcNAc-inositol phospholipid assembly protein", "type": "synonym" }, { "name": "phosphatidylinositol N-acetylglucosaminyltransferase subunit A isoform 1", "type": "synonym" }, { "name": "phosphatidylinositol N-acetylglucosaminyltransferase subunit A", "type": "synonym" }, { "name": "phosphatidylinositol-glycan biosynthesis, class A protein", "type": "synonym" } ], "gene_names": [ { "name": "PIGA", "type": "recommended" }, { "name": "GPI3", "type": "synonym" }, { "name": "MCAHS2", "type": "synonym" }, { "name": "NEDEPH", "type": "synonym" }, { "name": "PIG-A", "type": "synonym" }, { "name": "PIGA", "type": "synonym" }, { "name": "PNH1", "type": "synonym" } ], "record_id": "P37287-1", "evidence": [ { "id": "0060713", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060713" } ] } ], "glycans": [], "biomarkers": [], "association_flag": "1000", "record_id": "doid.0060713" }