{ "id": 23977, "label": "inherited cutis laxa", "model": { "label": "Mondo Disease Ontology (MONDO)", "source": 0 }, "type_id": 0, "reference_id": "MONDO:0100237", "properties": { "xrefs": [ "GARD:0026092", "MEDGEN:609465", "OMIMPS:123700", "UMLS:C0432334" ], "synonyms": [ "hereditary cutis laxa" ], "categories": [ { "ref": "MONDO:0002051", "name": "integumentary system disorder" } ], "definition": "An instance of cutis laxa that is inherited." }, "isLeaf": false, "isRoot": false, "child_count": 14, "parents": [ { "id": 5714, "label": "hereditary disease", "isLeaf": false, "isRoot": false, "parents": [ 29382 ], "type_id": 0, "properties": { "xrefs": [ "DOID:630", "EFO:0000508", "ICD9:799.89", "MEDGEN:5527", "MESH:D030342", "NCIT:C3101", "SCTID:32895009", "UMLS:C0019247" ], "synonyms": [ "genetic condition", "genetic disease", "genetic disorder", "hereditary disease", "hereditary disease or disorder", "hereditary diseases", "inherited disease", "inherited genetic disease", "molecular disease", "Mendelian disease", "familial disorder", "inborn disorder" ], "definition": "A disease that is caused by genetic modifications where those modifications are inherited from a parent's genome." }, "child_count": 1925, "reference_id": "MONDO:0003847" }, { "id": 16769, "label": "cutis laxa", "isLeaf": false, "isRoot": false, "parents": [ 4198, 19507 ], "type_id": 0, "properties": { "xrefs": [ "DOID:3144", "GARD:0006227", "MEDGEN:8206", "MESH:D003483", "MedDRA:10011692", "NCIT:C84663", "NORD:1022", "Orphanet:209", "SCTID:58588007", "UMLS:C0010495", "icd11.foundation:1227401566" ], "synonyms": [ "cutis laxa", "elastolysis", "generalised elastolysis", "generalized elastolysis" ], "categories": [ { "ref": "MONDO:0002051", "name": "integumentary system disorder" } ], "definition": "Cutis laxa (CL) is an inherited or acquired connective tissue disorder characterized by wrinkled, redundant and sagging inelastic skin associated with skeletal and developmental anomalies and, in some cases, with severe systemic involvement. Several different forms of inherited CL have been described, differentiated on the basis of the mode of inheritance and differences in the extent of internal organ involvement, associated anomalies and disease severity." }, "child_count": 4, "reference_id": "MONDO:0016175" } ], "children": [ { "id": 8663, "label": "craniofaciofrontodigital syndrome", "isLeaf": true, "isRoot": false, "parents": [ 16087, 23977 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0017571", "MEDGEN:393947", "MESH:C567298", "OMIM:114620", "Orphanet:363705", "SCTID:763320005", "UMLS:C2676032" ], "synonyms": [ "Cantu craniofaciofrontodigital syndrome", "craniofaciofrontodigital syndrome" ], "categories": [ { "ref": "MONDO:0002051", "name": "integumentary system disorder" } ], "definition": "Craniofaciofrontodigital is a rare multiple congenital anomalies syndrome characterized by mild intellectual disability, short stature, cardiac anomalies, mild dysmorphic features (macrocephaly, prominent forehead, hypertelorism, exophthalmos), cutis laxa, joint hyperlaxity, wrinkled palms and soles and skeletal anomalies (sella turcica, wide ribs and small vertebral bodies)." }, "child_count": 0, "reference_id": "MONDO:0007259" }, { "id": 10086, "label": "arterial tortuosity syndrome", "isLeaf": true, "isRoot": false, "parents": [ 7065, 21247, 23977 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0050645", "GARD:0000774", "ICD10CM:Q87.82", "MEDGEN:347942", "MESH:C565942", "NORD:803", "OMIM:208050", "Orphanet:3342", "SCTID:458432002", "UMLS:C1859726", "icd11.foundation:371764699" ], "synonyms": [ "arterial tortuosity syndrome", "ATS", "arterial tortuosity" ], "categories": [ { "ref": "MONDO:0002051", "name": "integumentary system disorder" }, { "ref": "MONDO:0003900", "name": "connective tissue disorder" }, { "ref": "MONDO:0004995", "name": "cardiovascular disorder" } ], "definition": "Arterial tortuosity syndrome (ATS) is a rare connective tissue disorder characterized by tortuosity and elongation of the large and medium-sized arteries and a propensity towards aneurysm formation, vascular dissection, and stenosis of the pulmonary arteries." }, "child_count": 0, "reference_id": "MONDO:0008818" }, { "id": 10304, "label": "ALDH18A1-related de Barsy syndrome", "isLeaf": true, "isRoot": false, "parents": [ 16198, 17850, 23875, 23977 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0070132", "GARD:0016638", "ICD9:371.89", "MEDGEN:1720006", "OMIM:219150", "Orphanet:35664", "SCTID:59252009", "UMLS:C5234852" ], "synonyms": [ "P5CS deficiency", "ARCL3A", "Delta-1-pyrroline 5-carboxylate synthetase deficiency", "neurocutaneous syndrome, Bicknell type", "De Barsy syndrome a", "autosomal recessive cutis laxa type IIIA", "cutis laxa, autosomal recessive, type 3A", "cutis laxa, autosomal recessive, type IIIA", "cutis laxa, corneal clouding, and intellectual disability", "cutis laxa, corneal clouding, and mental retardation", "progeroid syndrome of De Barsy" ], "categories": [ { "ref": "MONDO:0002051", "name": "integumentary system disorder" } ], "definition": "ALDH18A1-related De Barsy syndrome combines intellectual deficit, bilateral cataracts, and skin and joint hyperlaxity." }, "child_count": 0, "reference_id": "MONDO:0009053" }, { "id": 10305, "label": "autosomal recessive cutis laxa type 2, classic type", "isLeaf": true, "isRoot": false, "parents": [ 23977 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0070141", "GARD:0017546", "MEDGEN:1825992", "MESH:C562632", "Orphanet:357074", "SCTID:73856006", "UMLS:C5679922" ], "synonyms": [ "ARCL2, Debré type", "ARCL2, classic type", "autosomal recessive cutis laxa type 2, Debre type", "autosomal recessive cutis laxa type 2, Debré type", "ARCL2A", "Arcl2", "autosomal recessive cutis laxa type II classic type" ], "categories": [ { "ref": "MONDO:0002051", "name": "integumentary system disorder" } ] }, "child_count": 0, "reference_id": "MONDO:0009054" }, { "id": 10512, "label": "geroderma osteodysplastica", "isLeaf": true, "isRoot": false, "parents": [ 23977, 24803 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0111266", "GARD:0000413", "ICD9:759.89", "MEDGEN:98149", "MESH:C537799", "OMIM:231070", "Orphanet:2078", "SCTID:254116003", "UMLS:C0432255" ], "synonyms": [ "geroderma osteodysplastica", "GERODERMA OSTEODYSPLASTICUM", "GO", "Geroderma osteodysplasticum", "Gerodermia osteodysplastica", "Walt Disney dwarfism" ], "categories": [ { "ref": "MONDO:0002051", "name": "integumentary system disorder" }, { "ref": "MONDO:0002081", "name": "musculoskeletal system disorder" } ], "definition": "Geroderma osteodysplastica (GO) is characterized by lax and wrinkled skin (especially on the dorsum of the hands and feet and abdomen), progeroid features, hip dislocation, joint laxity, severe short stature/dwarfism, severe osteoporosis, vertebral abnormalities and spontaneous fractures, and developmental delay and mild intellectual deficit." }, "child_count": 0, "reference_id": "MONDO:0009271" }, { "id": 11726, "label": "occipital horn syndrome", "isLeaf": true, "isRoot": false, "parents": [ 16088, 16198, 17987, 23977 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0111272", "GARD:0004017", "MEDGEN:82793", "MESH:C537860", "NANDO:1200654", "NANDO:2200581", "OMIM:304150", "Orphanet:198", "SCTID:59399004", "UMLS:C0268353" ], "synonyms": [ "occipital horn syndrome", "occipital horn syndrome, X-linked recessive", "EDS IX (formerly)", "EDS IX, formerly", "EDS9", "EDS9, formerly", "Ehlers-Danlos syndrome, occipital horn type", "Ehlers-Danlos syndrome, occipital horn type (formerly)", "Ehlers-Danlos syndrome, occipital horn type, formerly", "OHS", "cutis laxa X-linked", "cutis laxa, X-linked", "cutis laxa, X-linked, formerly" ], "categories": [ { "ref": "MONDO:0002051", "name": "integumentary system disorder" } ], "definition": "Occipital horn syndrome (OHS) is a mild form of Menkes disease (MD), a syndrome characterized by progressive neurodegeneration and connective tissue disorders due to a copper transport defect." }, "child_count": 0, "reference_id": "MONDO:0010572" }, { "id": 14153, "label": "RIN2 syndrome", "isLeaf": true, "isRoot": false, "parents": [ 23977 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0017120", "MEDGEN:416526", "MESH:C567770", "OMIM:613075", "Orphanet:217335", "SCTID:723367005", "UMLS:C2751321" ], "synonyms": [ "MACS syndrome", "RIN2 deficiency", "RIN2 syndrome", "macrocephaly-alopecia-cutis laxa-scoliosis syndrome", "tall forehead-sparse hair-skin hyperextensibility-scoliosis syndrome", "macrocephaly, alopecia, cutis laxa, and scoliosis", "tall forehead, sparse hair, skin hyperextensibility, and scoliosis" ], "categories": [ { "ref": "MONDO:0002051", "name": "integumentary system disorder" } ], "definition": "RIN2 syndrome, formerly known as macrocephaly, alopecia, cutis laxa and scoliosis (MACS) syndrome, is a very rare inherited connective tissue disorder characterized by macrocephaly, sparse scalp hair, soft-redundant and hyperextensible skin, joint hypermobility, and scoliosis. Patients have progressive facial coarsening with downslanted palpebral fissures, upper eyelid fullness/infraorbital folds, thick/everted vermillion, gingival overgrowth and abnormal position of the teeth. Rarer manifestations such as abnormal high-pitched voice, bronchiectasis, hypergonadotropic hypergonadism and brachydactyly have also been reported." }, "child_count": 0, "reference_id": "MONDO:0013115" }, { "id": 14206, "label": "cutis laxa with severe pulmonary, gastrointestinal and urinary anomalies", "isLeaf": true, "isRoot": false, "parents": [ 7611, 23977 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0070139", "GARD:0017140", "MEDGEN:442566", "MESH:C567716", "OMIM:613177", "Orphanet:221145", "PMID:19836010", "UMLS:C2750804", "icd11.foundation:424903269" ], "synonyms": [ "ARCL1C", "Urban-Rifkin-Davis syndrome", "autosomal recessive cutis laxa type 1C", "autosomal recessive cutis laxa type IC", "cutis laxa with Severe pulmonary, gastrointestinal, and urinary abnormalities", "cutis laxa, autosomal recessive, type 1C", "cutis laxa, autosomal recessive, type IC" ], "categories": [ { "ref": "MONDO:0002051", "name": "integumentary system disorder" } ], "definition": "A autosomal recessive cutis laxa type I that has material basis in homozygous or compound heterozygous mutation in the LTBP4 gene on chromosome 19q13" }, "child_count": 0, "reference_id": "MONDO:0013170" }, { "id": 14773, "label": "PYCR1-related de Barsy syndrome", "isLeaf": true, "isRoot": false, "parents": [ 17850, 23977 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0070138", "GARD:0017340", "MEDGEN:482429", "OMIM:614438", "Orphanet:293633", "UMLS:C3280799" ], "synonyms": [ "ARCL3B", "PYCR1 de Barsy syndrome", "PYCR1 deficiency", "de Barsy syndrome caused by mutation in PYCR1", "pyrroline-5-carboxylate reductase 1 deficiency", "autosomal recessive cutis laxa type IIIB", "cutis laxa, autosomal recessive, type 3B", "cutis laxa, autosomal recessive, type IIIB" ], "categories": [ { "ref": "MONDO:0002051", "name": "integumentary system disorder" } ], "definition": "Any de Barsy syndrome in which the cause of the disease is a mutation in the PYCR1 gene." }, "child_count": 0, "reference_id": "MONDO:0013755" }, { "id": 19376, "label": "autosomal dominant cutis laxa", "isLeaf": false, "isRoot": false, "parents": [ 2903, 23977 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0070142", "GARD:0001639", "MEDGEN:120630", "MESH:C562627", "Orphanet:90348", "SCTID:111388003", "UMLS:C0268350", "icd11.foundation:720393698" ], "synonyms": [ "ADCL", "cutis laxa, autosomal dominant" ], "categories": [ { "ref": "MONDO:0002051", "name": "integumentary system disorder" } ], "definition": "Autosomal dominant cutis laxa (ADCL) is a connective tissue disorder characterized by wrinkled, redundant and sagging inelastic skin associated in some cases with internal organ involvement." }, "child_count": 6, "reference_id": "MONDO:0019571" }, { "id": 19377, "label": "autosomal recessive cutis laxa type 1", "isLeaf": false, "isRoot": false, "parents": [ 7611, 23977 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0070144", "GARD:0008480", "MEDGEN:78663", "MESH:C536225", "Orphanet:90349", "PMID:19401719", "SCTID:254222002", "UMLS:C0268351" ], "synonyms": [ "ARCL1", "autosomal recessive cutis laxa type 1", "autosomal recessive cutis laxa with severe systemic involvement", "autosomal recessive cutis laxa, pulmonary emphysema type", "autosomal recessive cutis laxa type I", "cutis laxa, autosomal recessive type 1", "cutis laxa, type 1" ], "categories": [ { "ref": "MONDO:0002051", "name": "integumentary system disorder" } ], "definition": "Autosomal recessive cutis laxa, type 1 (ARCL1) is a generalized connective tissue disorder characterized by the association of wrinkled, redundant and sagging inelastic skin with severe systemic manifestations (lung atelectesias and emphysema, vascular anomalies, and gastrointestinal and genitourinary tract diverticuli)." }, "child_count": 6, "reference_id": "MONDO:0019572" }, { "id": 19378, "label": "autosomal recessive cutis laxa type 2", "isLeaf": false, "isRoot": false, "parents": [ 7611, 16198, 17672, 18360, 23977 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0019134", "MEDGEN:609467", "Orphanet:90350", "UMLS:C0432337" ], "synonyms": [ "ARCL2", "cutis laxa with joint laxity and developmental delay" ], "categories": [ { "ref": "MONDO:0002051", "name": "integumentary system disorder" }, { "ref": "MONDO:0002081", "name": "musculoskeletal system disorder" } ], "definition": "A spectrum of connective tissue disorders characterized by the association of wrinkled, redundant and sagging inelastic skin with growth and developmental delay, and skeletal anomalies. The spectrum ranges from patients with classic ARCL2 (ARCL, Debre) type) to patients with a milder form of the disease, wrinkled skin syndrome (WSS)." }, "child_count": 20, "reference_id": "MONDO:0019573" }, { "id": 21892, "label": "cutis laxa, autosomal recessive, type 2E", "isLeaf": true, "isRoot": false, "parents": [ 23977 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0025543", "MEDGEN:1794154", "OMIM:619451", "UMLS:C5561944" ], "synonyms": [ "ARCL2E", "cutis laxa, autosomal recessive, type 2E", "cutis laxa, autosomal recessive, type IIE" ], "categories": [ { "ref": "MONDO:0002051", "name": "integumentary system disorder" } ] }, "child_count": 0, "reference_id": "MONDO:0030337" }, { "id": 26086, "label": "arterial tortuosity-bone fragility syndrome", "isLeaf": true, "isRoot": false, "parents": [ 4370, 7065, 7171, 21247, 23977 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0028086", "MEDGEN:1855920", "OMIM:620908", "UMLS:C5935641" ], "synonyms": [ "EMILIN1-related arterial tortuosity syndrome" ], "categories": [ { "ref": "MONDO:0002051", "name": "integumentary system disorder" }, { "ref": "MONDO:0002081", "name": "musculoskeletal system disorder" }, { "ref": "MONDO:0002254", "name": "syndromic disease" }, { "ref": "MONDO:0003900", "name": "connective tissue disorder" }, { "ref": "MONDO:0004995", "name": "cardiovascular disorder" } ], "definition": "A syndromic disease with a spectrum of manifestations in the cardiovascular system and other organ systems caused by disease-causing variants in the EMILIN1 gene, inherited in an autosomal recessive manner. Affected individuals have impaired elastogenesis with defective collagen fibrillogenesis which can lead to arterial tortuosity, bone fragility and other manifestations including dysmorphic facial features, cutis laxa, joint hypermobility, congenital heart malformations, arterial stenosis, and aortic root dilatation. Cases may present prenatally or in early childhood." }, "child_count": 0, "reference_id": "MONDO:0971179" } ], "roots": [ { "id": 5714, "label": "hereditary disease" }, { "id": 16769, "label": "cutis laxa" } ] }