{ "disease_id": "DOID:0060366", "recommended_name": { "id": "DOID:0060366", "resource": "Disease Ontology", "url": "https://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": "https://disease-ontology.org/term/DOID:0060366", "name": "Hennekam lymphangiectasia-lymphedema syndrome", "description": "" }, { "id": "DOID:0060366", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0060366", "name": "lymphedem-lymphangiectasia-intellectual disability syndrome", "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": "lymphatic dysplasia, generalised", "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": "MIM:235510", "resource": "MIM", "url": "https://www.omim.org/entry/235510", "name": "Hennekam lymphangiectasia-lymphedema syndrome 1", "description": "Hennekam lymphangiectasia-lymphedema syndrome 1" }, { "id": "MIM:616006", "resource": "MIM", "url": "https://www.omim.org/entry/616006", "name": "Hennekam lymphangiectasia-lymphedema syndrome 2", "description": "Hennekam lymphangiectasia-lymphedema syndrome 2" } ], "children": [], "id_list": [ "DOID:0060366" ], "unlinked_id_list": [], "crossref": [ { "id": "DOID:0060366", "database": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0060366", "categories": [] }, { "id": "MONDO:0009337", "database": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009337", "categories": [] }, { "id": "MONDO:0014454", "database": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014454", "categories": [] }, { "id": "MIM:235510", "database": "MIM", "url": "https://www.omim.org/entry/235510", "categories": [] }, { "id": "MIM:616006", "database": "MIM", "url": "https://www.omim.org/entry/616006", "categories": [] } ], "proteins": [ { "uniprot_canonical_ac": "A8WGB1-1", "uniprot_ac": "A8WGB1", "uniprot_id": "CCBE1_DANRE", "refseq_ac": "NP_001157395", "glycoprotein": "yes", "species": [ { "name": "Danio rerio", "taxid": 7955, "common_name": "Zebrafish", "glygen_name": "Zebrafish", "reference_species": "Danio rerio [7955]" } ], "protein_names": [ { "name": "Collagen and calcium-binding EGF domain-containing protein 1", "type": "recommended" }, { "name": "Full of fluid protein", "type": "synonym" }, { "name": "collagen and calcium-binding EGF domain-containing protein 1 precursor", "type": "synonym" }, { "name": "collagen and calcium-binding EGF domain-containing protein 1", "type": "synonym" }, { "name": "full of fluid protein", "type": "synonym" } ], "gene_names": [ { "name": "ccbe1", "type": "recommended" }, { "name": "ccbe1", "type": "synonym" }, { "name": "fof", "type": "synonym" } ], 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{ "name": "protocadherin Fat 4", "type": "synonym" }, { "name": "putative protein product of Nbla00548", "type": "synonym" } ], "gene_names": [ { "name": "FAT4", "type": "recommended" }, { "name": "CDHF14", "type": "synonym" }, { "name": "CDHR11", "type": "synonym" }, { "name": "FAT-J", "type": "synonym" }, { "name": "FAT4", "type": "synonym" }, { "name": "FATJ", "type": "synonym" }, { "name": "HKLLS2", "type": "synonym" }, { "name": "NBLA00548", "type": "synonym" }, { "name": "Nbla00548", "type": "synonym" }, { "name": "VMLDS2", "type": "synonym" } ], "record_id": "Q6V0I7-1", "evidence": [ { "id": "616006", "database": "MIM", "url": "https://www.omim.org/entry/616006" }, { "id": "0060366", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060366" } ] }, { "uniprot_canonical_ac": "Q6UXH8-1", "uniprot_ac": "Q6UXH8", "uniprot_id": "CCBE1_HUMAN", "refseq_ac": "NP_597716", "glycoprotein": "yes", "species": [ { "name": "Homo sapiens", "taxid": 9606, "common_name": 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