{ "disease_id": "DOID:0060366", "recommended_name": { "id": "DOID:0060366", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0060366", "name": "Hennekam syndrome", "description": "A lymphatic system disease characterized by he presence of intestinal lymphangiectasia, mental retardation, and characteristic facial anomalies. It is inherited in an autosomal recessive pattern. Most individuals with Hennekam syndrome have characteristic facial abnormalities, such as a flat face with accompanying puffy eyelids and hypertelorism; the nasal bridge is typically flat and the ears are typically small. Congenital extremity and genital lymphedema is present in most patients." }, "synonyms": [ { "id": "DOID:0060366", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0060366", "name": "Hennekam lymphangiectasia-lymphedema syndrome", "description": "" }, { "id": "DOID:0060366", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0060366", "name": "lymphedem-lymphangiectasia-intellectual disability syndrome", "description": "" }, { "id": "MONDO:0014454", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014454", "name": "Hennekam lymphangiectasia-lymphedema syndrome 2", "description": "Any Hennekam syndrome in which the cause of the disease is a mutation in the FAT4 gene." }, { "id": "MONDO:0014454", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014454", "name": "FAT4 Hennekam syndrome", "description": "" }, { "id": "MONDO:0014454", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014454", "name": "Hennekam lymphangiectasia-lymphedema syndrome 2", "description": "" }, { "id": "MONDO:0014454", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014454", "name": "Hennekam lymphangiectasia-lymphedema syndrome type 2", "description": "" }, { "id": "MONDO:0014454", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014454", "name": "Hennekam syndrome caused by mutation in FAT4", "description": "" }, { "id": "MONDO:0014454", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014454", "name": "HKLLS2", "description": "" }, { "id": "MONDO:0009337", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009337", "name": "Hennekam lymphangiectasia-lymphedema syndrome 1", "description": "Any Hennekam syndrome in which the cause of the disease is a mutation in the CCBE1 gene." }, { "id": "MONDO:0009337", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009337", "name": "CCBE1 Hennekam syndrome", "description": "" }, { "id": "MONDO:0009337", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009337", "name": "Hennekam lymphangiectasia-lymphedema syndrome 1", "description": "" }, { "id": "MONDO:0009337", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009337", "name": "Hennekam lymphangiectasia-lymphedema syndrome type 1", "description": "" }, { "id": "MONDO:0009337", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009337", "name": "Hennekam syndrome caused by mutation in CCBE1", "description": "" }, { "id": "MONDO:0009337", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009337", "name": "HKLLS1", "description": "" }, { "id": "MONDO:0009337", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009337", "name": "Hennekam lymphangiectasia-lymphedema syndrome", "description": "" }, { "id": "MONDO:0009337", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009337", "name": "lymphatic dysplasia, generalised", "description": "" }, { "id": "MONDO:0009337", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009337", "name": "lymphatic dysplasia, generalized", "description": "" }, { "id": "MIM:616006", "resource": "MIM", "url": "https://www.omim.org/entry/616006", "name": "Hennekam lymphangiectasia-lymphedema syndrome 2", "description": "Hennekam lymphangiectasia-lymphedema syndrome 2" }, { "id": "MIM:235510", "resource": "MIM", "url": "https://www.omim.org/entry/235510", "name": "Hennekam lymphangiectasia-lymphedema syndrome 1", "description": "Hennekam lymphangiectasia-lymphedema syndrome 1" } ], "children": [], "id_list": [ "DOID:0060366" ], "unlinked_id_list": [], "crossref": [ { "id": "DOID:0060366", "database": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0060366", "categories": [] }, { "id": "MONDO:0014454", "database": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014454", "categories": [] }, { "id": "MONDO:0009337", "database": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009337", "categories": [] }, { "id": "MIM:616006", "database": "MIM", "url": "https://www.omim.org/entry/616006", "categories": [] }, { "id": "MIM:235510", "database": "MIM", "url": "https://www.omim.org/entry/235510", "categories": [] } ], "proteins": [ { "uniprot_canonical_ac": "Q9W1Z6-1", "uniprot_ac": "Q9W1Z6", "uniprot_id": "Q9W1Z6_DROME", "refseq_ac": "NP_001097423", "glycoprotein": "no", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "protein_names": [ { "name": "3.4.24.-", "resource": "UniProtKB", "type": "synonym" }, { "name": "CG3622-PC; stl-PC; stall; female sterile(2)A16", "resource": "RefSeq", "type": "synonym" }, { "name": "Stall, isoform C", "resource": "UniProtKB", "type": "synonym" }, { "name": "Stall, isoform E", "resource": "UniProtKB", "type": "synonym" }, { "name": "stall, isoform C", "resource": "RefSeq", "type": "synonym" } ], "gene_names": [ { "name": "stl", "resource": "UniProtKB", "type": "recommended" }, { "name": "BcDNA:GM08694; CG3622; Dmel\\CG3622; fs(2)A16", "resource": "RefSeq", "type": "synonym" }, { "name": "BcDNA:GM08694", "resource": "UniProtKB", "type": "synonym" }, { "name": "CG3622", "resource": "UniProtKB", "type": "synonym" }, { "name": "Dmel\\CG3622", "resource": "UniProtKB", "type": "synonym" }, { "name": "Dmel_CG3622", "resource": "UniProtKB", "type": "synonym" }, { "name": "fs(2)A16", "resource": "UniProtKB", "type": "synonym" }, { "name": "stl", "resource": "RefSeq", "type": "synonym" } ], "evidence": [ { "id": "0060366", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:0060366" } ] }, { "uniprot_canonical_ac": "P33450-1", "uniprot_ac": "P33450", "uniprot_id": "FAT_DROME", "refseq_ac": "NP_477497", "glycoprotein": "yes", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "protein_names": [ { "name": "Cadherin-related tumor suppressor", "resource": "UniProtKB", "type": "recommended" }, { "name": "CG3352-PA; ft-PA; giant discs 2; floppy-discs; giant-discs-1", "resource": "RefSeq", "type": "synonym" }, { "name": "Protein fat", "resource": "UniProtKB", "type": "synonym" }, { "name": "fat", "resource": "RefSeq", "type": "synonym" } ], "gene_names": [ { "name": "ft", "resource": "UniProtKB", "type": "recommended" }, { "name": "79/18; CG3352; CT11259; Dm Fat; Dmel\\CG3352; Fat; Ft; FT; l(2)24Da; l(2)79/18; l(2)fat; l(2)fd; l(2)ft; l(2)gd-1; l(2)gd-l; l(2)gd2; l(2)k07918", "resource": "RefSeq", "type": "synonym" }, { "name": "CG3352", "resource": "UniProtKB", "type": "synonym" }, { "name": "ft", "resource": "RefSeq", "type": "synonym" } ], "evidence": [ { "id": "0060366", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:0060366" } ] }, { "uniprot_canonical_ac": "E9Q287-1", "uniprot_ac": "E9Q287", "uniprot_id": "E9Q287_MOUSE", "refseq_ac": "NP_808540", "glycoprotein": "yes", "species": [ { "name": "Mus musculus", "taxid": 10090, "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "protein_names": [ { "name": "A disintegrin and metalloproteinase with thrombospondin motifs 3 isoform 1 precursor", "resource": "RefSeq", "type": "synonym" }, { "name": "ADAM metallopeptidase with thrombospondin type 1 motif 3", "resource": "UniProtKB", "type": "synonym" }, { "name": "a disintegrin-like and metallopeptidase (reprolysin type) with thrombospondin type 1 motif, 3", "resource": "RefSeq", "type": "synonym" } ], "gene_names": [ { "name": "Adamts3", "resource": "UniProtKB", "type": "recommended" }, { "name": "1100001H14Rik; 6330442E02Rik", "resource": "RefSeq", "type": "synonym" }, { "name": "Adamts3", "resource": "RefSeq", "type": "synonym" } ], "evidence": [ { "id": "0060366", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:0060366" } ] }, { "uniprot_canonical_ac": "Q3MI99-1", "uniprot_ac": "Q3MI99", "uniprot_id": "CCBE1_MOUSE", "refseq_ac": "NP_848908", "glycoprotein": "yes", "species": [ { "name": "Mus musculus", "taxid": 10090, "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "protein_names": [ { "name": "Collagen and calcium-binding EGF domain-containing protein 1", "resource": "UniProtKB", "type": "recommended" }, { "name": "Full of fluid protein homolog", "resource": "UniProtKB", "type": "synonym" }, { "name": "collagen and calcium-binding EGF domain-containing protein 1 precursor", "resource": "RefSeq", "type": "synonym" }, { "name": "collagen and calcium-binding EGF domain-containing protein 1; full of fluid protein homolog", "resource": "RefSeq", "type": "synonym" } ], "gene_names": [ { "name": "Ccbe1", "resource": "UniProtKB", "type": "recommended" }, { "name": "4933426F18Rik; 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full of fluid protein", "resource": "RefSeq", "type": "synonym" } ], "gene_names": [ { "name": "ccbe1", "resource": "UniProtKB", "type": "recommended" }, { "name": "ccbe1", "resource": "RefSeq", "type": "synonym" }, { "name": "fof", "resource": "RefSeq", "type": "synonym" }, { "name": "fof", "resource": "UniProtKB", "type": "synonym" } ], "evidence": [ { "id": "0060366", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:0060366" } ] }, { "uniprot_canonical_ac": "A0A8I5ZMX2-1", "uniprot_ac": "A0A8I5ZMX2", "uniprot_id": "A0A8I5ZMX2_RAT", "refseq_ac": "NP_001381638", "glycoprotein": "no", "species": [ { "name": "Rattus norvegicus", "taxid": 10116, "common_name": "Rat", "glygen_name": "Rat", "reference_species": "Rattus norvegicus [10116]" } ], "protein_names": [ { "name": "A disintegrin and metalloproteinase with thrombospondin motifs 3 isoform 1 precursor", "resource": "RefSeq", "type": "synonym" }, { "name": "ADAM metallopeptidase with thrombospondin type 1, motif 3", "resource": "UniProtKB", "type": "synonym" }, { "name": "a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 3; 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