{"Name":"Congenital livedo reticularis","DiseaseID__c":"GARD:0006228","id":6228,"encodedName":"congenital-livedo-reticularis","IsDeleted":false,"Disease_Name_Full__c":"Congenital livedo reticularis","Xref_IDs__c":"254778000; C0345419; C536226; MEDGEN:83381; MONDO:0009055; OMIM:219250; ORPHA:1556","USA_Estimate__c":null,"No_of_Specialist_Tagsa__c":3,"No_of_ClinGen_records__c":0,"No_of_GeneReviews__c":0,"No_of_HHS_records__c":0,"World_Estimate__c":null,"No_of_HRSA_records__c":0,"Evidence_Based_Score__c":0,"No_of_Disease_Descriptions__c":3,"Disease_Characteristics_Score__c":7,"No_of_Age_at_Onset__c":1,"Description_Source__c":"MONDO:0009055","Disease_Description__c":"Cutis marmorata telangiectatica congenita (CMTC) is a congenital localized or generalized vascular anomaly characterized by a persistent cutis marmorata pattern with a marbled bluish to deep purple appearance, spider nevus-like telangiectasia, phlebectasia and, occasionally, ulceration and atrophy of the affected skin.","GARD_Name__c":"Congenital livedo reticularis","GARD_Synonym__c":"cmtc; cmtc - cutis marmorata telangiectatica congenita; cutis marmorata telangiectasia congenita; cutis marmorata telangiectatica congenita; cutis marmorata telangiectatica congenita (disease); van lohuizen's syndrome","Curated_Disease_Description_Source__c":"GARD:0006228","Curated_Disease_Description__c":"Cutis marmorata telangiectatica congenita (CMTC) is a birth defect involving the skin and blood vessels. It is characterized by patches of marbled-looking skin (cutis marmarota), small widened blood vessels under the skin (telangiectasia) and varicose veins (phlebectasia). The skin findings most often occur on the legs, but may also occur on the arms and trunk. The face is only rarely involved. CMTC usually only affects a specific area of the skin, although there have been a few cases of CMTC over the whole body. It may occasionally occur along with open sores (skin ulceration) or skin atrophy. The skin symptoms associated with CMTC generally improve with age. CMTC can occur alone or along with a variety of other birth defects, particularly those involving undergrowth or overgrowth of the same arm or leg. Most cases are thought to be sporadic (non-inherited), although rare cases have been observed in families.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":null,"Age_at_Onset_Snippet_Text__c":"as a Newborn","SourceID__c":"ORPHA:1556","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0009055","ORPHANET_ID__c":"ORPHA:1556","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Cutis marmorata telangiectásica congénita","Spanish_Description_Source__c":"ORPHA:1556","Spanish_Description__c":"La cutis marmorata telangiectasia congénita (CMTC) es una anomalía vascular congénita localizada o generalizada, que se caracteriza por un patrón de cutis marmorata, con una coloración que varia del azul al morado oscuro, telangiectasia tipo araña vascular, flebectasia y ocasionalmente, ulceración y atrofia de la piel afectada.","Spanish_Disease_Name__c":"cutis marmorata telangiectásica congénita","Spanish_GARD_Synonym__c":"cmtc","Category_Linearization__c":"ORPHA:93890","icd10_id__c":null,"mesh_id__c":null,"omim_id__c":null,"snomed_id__c":null,"umls_id__c":null,"GARD_Disease__c":[{"Curated_Disease_Description__c":"Cutis marmorata telangiectatica congenita (CMTC) is a birth defect involving the skin and blood vessels. It is characterized by patches of marbled-looking skin (cutis marmarota), small widened blood vessels under the skin (telangiectasia) and varicose veins (phlebectasia). The skin findings most often occur on the legs, but may also occur on the arms and trunk. The face is only rarely involved. CMTC usually only affects a specific area of the skin, although there have been a few cases of CMTC over the whole body. It may occasionally occur along with open sores (skin ulceration) or skin atrophy. The skin symptoms associated with CMTC generally improve with age. CMTC can occur alone or along with a variety of other birth defects, particularly those involving undergrowth or overgrowth of the same arm or leg. Most cases are thought to be sporadic (non-inherited), although rare cases have been observed in families.","Curated_Disease_Description_Source__c":"GARD:0006228","GARD_Synonym__c":"cmtc; cmtc - cutis marmorata telangiectatica congenita; cutis marmorata telangiectasia congenita; cutis marmorata telangiectatica congenita; cutis marmorata telangiectatica congenita (disease); van lohuizen's syndrome","Name":"Congenital livedo reticularis","estimateUsa":""}],"Organization_Supported_Diseases__c":[{"Account_Name__c":"Birth Defect Research for Children","Website__c":"https://www.birthdefects.org/"},{"Account_Name__c":"CMTC Alliance","Website__c":"https://www.cmtcalliance.org/"},{"Account_Name__c":"Vascular Birthmarks Foundation","Website__c":"https://birthmark.org/"},{"Account_Name__c":"Canadian CMTC Foundation","Website__c":"https://www.canadiancmtcfoundation.com"},{"Account_Name__c":"CMTC-OVM (Netherlands)","Website__c":"https://www.cmtc.nl"}],"GARD_Disease_Tag__c":[{"Tag_Name__c":"Dermatology","Tag_Category__c":"Account;Disease Category;Specialist","category_description":"Skin diseases, or integumentary system diseases, affect the skin, hair, nails, sweat glands, or oil glands.","curated_tag_name":"Skin diseases"},{"Tag_Name__c":"Congenital Abnormality","Tag_Category__c":"Disease Category","category_description":"Birth defects are structural changes present at birth that can affect almost any part of the body, including how the body looks, works, or both.","curated_tag_name":"Birth defects"},{"Tag_Name__c":"Vascular Medicine","Tag_Category__c":"Specialist","curated_tag_name":"Vascular diseases"},{"Tag_Name__c":"Pediatrics","Tag_Category__c":"Specialist"}],"Age_At_Onset__c":[{"Age_At_Onset__c":"Neonatal","Provided_By__c":"ORPHA:1556"}],"External_Identifier_Disease__c":[{"URL__c":"https://raresource.nih.gov/diseases/filter/0006228","Source__c":"RareSource"},{"URL__c":"https://www.ncbi.nlm.nih.gov/books/NBK581081","Source__c":"Gene Review","Xref__c":"NBK581081"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=254778000","Source__c":"C0345419; MONDO:0009055","Xref__c":"254778000"},{"URL__c":"https://www.omim.org/entry/219250","Source__c":"C0345419; MONDO:0009055; ORPHA:1556","Xref__c":"OMIM:219250"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=83381","Source__c":"C0345419","Xref__c":"MEDGEN:83381"},{"URL__c":"https://www.orpha.net/en/disease/detail/1556","Source__c":"C0345419; MONDO:0009055; ORPHA:1556","Xref__c":"ORPHA:1556"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C536226","Source__c":"MONDO:0009055","Xref__c":"C536226"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C0345419","Source__c":"C0345419","Xref__c":"C0345419"},{"URL__c":"https://hpo.jax.org/browse/term/HP:0025107","Source__c":"C0345419","Xref__c":"HP:0025107"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0009055","Source__c":"GARD:0006228","Xref__c":"MONDO:0009055"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"GNA11","GHR_URL__c":"https://medlineplus.gov/genetics/gene/gna11","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["Autosomal recessive"],"GARD_Disease_Feature__c":[{"Provided_By__c":"ORPHA:1556","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Separation of the inner layers of the retina (neural retina) from the pigment epithelium.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000541","HPO_Synonym__c":"Detached retina; Retinal detachment","HPO_Name__c":"Retinal detachment","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1556","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0008065","HPO_Synonym__c":"Absent/small skin; Absent/underdeveloped skin","HPO_Name__c":"Aplasia/Hypoplasia of the skin","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1556","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"The presence of an abnormal lateral curvature of the spine.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002650","HPO_Name__c":"Scoliosis","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1556","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"An abnormality of the arm.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002817","HPO_Synonym__c":"Abnormality of the arm; Abnormality of the upper limb","HPO_Name__c":"Abnormality of the upper limb","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1556","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"The presence of a cleft (gap, opening, or groove) in the oral cavity, including cleft of the upper lip and/or cleft of the palate. Cleft of the upper lip is visible as a groove or fissure in the lip, most frequently due to a congenital failure of the maxillary and median nasal processes to fuse. Cleft palate is characterized by a grooved depression or fissure in the roof of the mouth, most often resulting from a congenital failure of the palate to fuse properly. Clefts of the lip and palate can occur individually or together. It is preferable to code each defect separately.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000202","HPO_Synonym__c":"Cleft of the mouth; Oral cleft; Oral clefting","HPO_Name__c":"Orofacial cleft","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1556","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Shortening of the legs related to developmental hypoplasia of the bones of the leg.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0006385","HPO_Synonym__c":"Short legs; Short lower limbs","HPO_Name__c":"Short lower limbs","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1556","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"This term refers to an abnormally increased susceptibility to bruising (purpura, petechiae, or ecchymoses).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001933","HPO_Synonym__c":"Bleeding below the skin","HPO_Name__c":"Subcutaneous hemorrhage","Feature_System__c":"Skin System; Cardiovascular System; Blood and Blood-Forming Tissue","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1556","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"An anomalous configuration of blood vessels that shunts arterial blood directly into veins without passing through the capillaries.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0100026","HPO_Name__c":"Arteriovenous malformation","Feature_System__c":"Cardiovascular System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1556","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"An abnormal white reflection from the pupil rather than the usual black reflection.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000555","HPO_Synonym__c":"Leukokoria; White pupillary reflex","HPO_Name__c":"Leukocoria","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1556","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Presence of small, permanently dilated blood vessels near the surface of the skin, visible as small focal red lesions.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0100585","HPO_Synonym__c":"Teleangiectasia of the skin","HPO_Name__c":"Telangiectasia of the skin","Feature_System__c":"Skin System; Cardiovascular System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1556","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"An abnormal restriction of fetal growth with fetal weight below the tenth percentile for gestational age.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001511","HPO_Synonym__c":"Fetal growth restriction; FGR; In utero growth retardation; Intrauterine growth failure; Intrauterine growth restriction; Intrauterine growth retardation, IUGR; Intrauterine retardation; IUGR; Prenatal growth deficiency; Prenatal growth failure; Prenatal growth retardation; Prenatal onset growth retardation; Prenatal-onset growth retardation; Small for gestational age infant","HPO_Name__c":"Intrauterine growth retardation","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1556","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"An abnormality of the skin.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000951","HPO_Synonym__c":"Abnormality of the skin; Dermatopathy; Dermopathy","HPO_Name__c":"Abnormality of the skin","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1556","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"A reticular discoloration of the skin with cyanotic (reddish-blue appearing) areas surrounding pale central areas due to dilation of capillary blood vessels and stagnation of blood within the vessels. Cutis marmorata generally occurs on the legs, arms and trunk and is often more severe in cold weather.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000965","HPO_Name__c":"Cutis marmorata","Feature_System__c":"Skin System; Cardiovascular System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1556","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A solitary, bluish, smooth surfaced macule, papule or plaque that is generally round or oval in shape. The histopathology of blue nevi varies by subtype, but general characteristics include a vertical wedge or bulbous shaped proliferation of spindle cells, dendritic melanocytes, and melanophages into a sclerotic dermis or subcutis.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0100814","HPO_Name__c":"Blue nevus","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1556","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Webbing or fusion of the fingers, involving soft parts only or including bone structure. Bony fusions are referred to as \\\"bony\\\" Syndactyly if the fusion occurs in a radio-ulnar axis. Fusions of bones of the fingers in a proximo-distal axis are referred to as \\\"Symphalangism\\\".","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0006101","HPO_Synonym__c":"Partial syndactyly","HPO_Name__c":"Finger syndactyly","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1556","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"The presence of six or more cafe-au-lait spots.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0007565","HPO_Name__c":"Multiple cafe-au-lait spots","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1556","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A growth pattern that displays an abnormal difference between the left and the right side.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0100555","HPO_Synonym__c":"Uneven or disproportionate growth of one body part compared to another","HPO_Name__c":"Asymmetric growth","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1556","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Abnormal cognition is characterized by deficits in thinking, reasoning, or remembering.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0100543","HPO_Synonym__c":"Abnormality of cognition; Cognitive abnormality; Cognitive defects; Cognitive deficits; Cognitive impairment; Intellectual impairment","HPO_Name__c":"Cognitive impairment","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1556","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A displacement of the external urethral orifice from its normal position (in males normally placed at the tip of glans penis, in females normally placed about 2.5 cm behind the glans clitoridis and immediately in front of that of the vagina).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0100627","HPO_Synonym__c":"Displacement of the external urethral orifice; Displacement of the male external urethral orifice","HPO_Name__c":"Displacement of the urethral meatus","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1556","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Narrowing or constriction of the inner surface (lumen) of an artery.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0100545","HPO_Synonym__c":"Narrowing of an artery","HPO_Name__c":"Arterial stenosis","Feature_System__c":"Cardiovascular System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1556","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A reduction of bone mineral density, that is, of the amount of matter per cubic centimeter of bones.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0004349","HPO_Synonym__c":"Decreased bone mineral density; Decreased bone mineral density Z score; Low solidness and mass of the bones","HPO_Name__c":"Reduced bone mineral density","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1556","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Webbing or fusion of the toes, involving soft parts only or including bone structure. Bony fusions are referred to as \\\"bony\\\" Syndactyly if the fusion occurs in a radio-ulnar axis. Fusions of bones of the toes in a proximo-distal axis are referred to as \\\"Symphalangism\\\".","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001770","HPO_Synonym__c":"Foot syndactyly; Fused toes; Syndactyly of feet; Syndactyly of toes; Webbed toes","HPO_Name__c":"Toe syndactyly","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1556","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Multicystic dysplasia of the kidney is characterized by multiple cysts of varying size in the kidney and the absence of a normal pelvicaliceal system. The condition is associated with ureteral or ureteropelvic atresia, and the affected kidney is nonfunctional.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000003","HPO_Synonym__c":"Multicystic dysplastic kidney; Multicystic kidneys; Multicystic renal dysplasia","HPO_Name__c":"Multicystic kidney dysplasia","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1556","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Purpura (from Latin: purpura, meaning purple) is the appearance of red or purple discolorations on the skin that do not blanch on applying pressure. They are caused by bleeding underneath the skin. This term refers to an abnormally increased susceptibility to developing purpura. Purpura are larger than petechiae.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000979","HPO_Synonym__c":"Red or purple spots on the skin","HPO_Name__c":"Purpura","Feature_System__c":"Skin System; Cardiovascular System; Blood and Blood-Forming Tissue","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1556","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Developmental hypoplasia of the mandible.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000347","HPO_Synonym__c":"Decreased size of lower jaw; Decreased size of mandible; Hypoplasia of lower jaw; Hypoplasia of mandible; Hypoplastic mandible; Hypoplastic mandible condyle; Hypotrophic lower jaw; Hypotrophic mandible; Little lower jaw; Little mandible; Lower jaw deficiency; Lower jaw hypoplasia; Mandibular deficiency; Mandibular hypoplasia; Mandibular micrognathia; Micrognathia of lower jaw; Micromandible; Robin mandible; Severe hypoplasia of mandible; Small jaw; Small lower jaw; Small mandible; Underdevelopment of lower jaw; Underdevelopment of mandible","HPO_Name__c":"Micrognathia","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1556","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"The presence of a capillary hemangioma, which are hemangiomas with small endothelial spaces.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0005306","HPO_Synonym__c":"Capillary hemangiomata; Strawberry birthmark","HPO_Name__c":"Capillary hemangioma","Feature_System__c":"Cardiovascular System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1556","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"An abnormality of the leg.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002814","HPO_Synonym__c":"Abnormality of the leg; Abnormality of the lower limb; Lower limb deformities","HPO_Name__c":"Abnormality of the lower limb","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1556","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"In utero, the ductus arteriosus (DA) serves to divert ventricular output away from the lungs and toward the placenta by connecting the main pulmonary artery to the descending aorta. A patent ductus arteriosus (PDA) in the first 3 days of life is a physiologic shunt in healthy term and preterm newborn infants, and normally is substantially closed within about 24 hours after bith and completely closed after about three weeks. Failure of physiologcal closure is referred to a persistent or patent ductus arteriosus (PDA). Depending on the degree of left-to-right shunting, PDA can have clinical consequences.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001643","HPO_Synonym__c":"Ductus arteriosus; Patent ductus Botalli; PDA; Persistent arterial duct; Persistent ductus arteriosus","HPO_Name__c":"Patent ductus arteriosus","Feature_System__c":"Cardiovascular System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1556","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Deficiency of thyroid hormone.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000821","HPO_Synonym__c":"Low T4; Underactive thyroid","HPO_Name__c":"Hypothyroidism","Feature_System__c":"Endocrine System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1556","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"A seizure is an intermittent abnormality of nervous system physiology characterized by a transient occurrence of signs and/or symptoms due to abnormal excessive or synchronous neuronal activity in the brain.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001250","HPO_Synonym__c":"Epileptic seizure; Seizures","HPO_Name__c":"Seizure","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1556","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"A discontinuity of the skin exhibiting incomplete loss of the epidermis, a lesion that is moist, circumscribed, and usually depressed.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0200041","HPO_Name__c":"Skin erosion","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1556","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Accumulation of fluid in the peritoneal cavity (between the layers of the peritoneum that lines the abdomen).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001541","HPO_Synonym__c":"Accumulation of fluid in the abdomen; Peritoneal effusion","HPO_Name__c":"Ascites","Feature_System__c":"Digestive System","HPO_Feature_Type__c":"Symptom"}}],"tags":{"Account":["Dermatology"],"Disease Category":["Dermatology","Congenital Abnormality"],"Specialist":["Dermatology","Vascular Medicine","Pediatrics"]},"synonyms":["cmtc"," cmtc - cutis marmorata telangiectatica congenita"," cutis marmorata telangiectasia congenita"," cutis marmorata telangiectatica congenita"," cutis marmorata telangiectatica congenita (disease)"," van lohuizen's syndrome"]}