{"Name":"Lymphatic malformation 6","DiseaseID__c":"GARD:0022301","id":22301,"encodedName":"lymphatic-malformation-6","IsDeleted":false,"Disease_Name_Full__c":"Lymphatic malformation 6","Xref_IDs__c":"C4225184; MEDGEN:908120; MONDO:0014797; OMIM:616843; ORPHA:568062","USA_Estimate__c":"1,000","No_of_Specialist_Tagsa__c":4,"No_of_ClinGen_records__c":0,"No_of_GeneReviews__c":0,"No_of_HHS_records__c":0,"World_Estimate__c":"1 to 8,000","No_of_HRSA_records__c":0,"Evidence_Based_Score__c":0,"No_of_Disease_Descriptions__c":2,"Disease_Characteristics_Score__c":7,"No_of_Age_at_Onset__c":4,"Description_Source__c":"ORPHA:568062","Disease_Description__c":"A rare genetic primary lymphedema characterized by uniform, widespread lymphedema, often with systemic involvement such as intestinal and pulmonary lymphangiectasia, pleural and pericardial effusions, and chylothorax. There is a high incidence of non-immune hydrops fetalis, which may result in fetal demise or fully resolve after birth. Severe, recurrent facial cellulitis is observed in some patients. Presence of epicanthic folds or micrognathia has occasionally been reported, while intelligence is normal, and seizures are absent.","GARD_Name__c":"Lymphatic malformation 6","GARD_Synonym__c":"generalised lymphatic dysplasia of fotiou; generalized lymphatic dysplasia of fotiou; lmph3; lmphm6; lymphedema, hereditary, iii; lymphedema, hereditary, type iii; piezo type mechanosensitive ion channel component 1-related generalized lymphatic dysplasia with non-immune hydrops fetalis; piezo1-related generalised lymphatic dysplasia with systemic involvement; piezo1-related generalized lymphatic dysplasia with non-immune hydrops fetalis; piezo1-related generalized lymphatic dysplasia with systemic involvement; piezo1-related lrhf/gld; piezo1-related lymphatic-related hydrops fetalis","Curated_Disease_Description_Source__c":"ORPHA:568062","Curated_Disease_Description__c":"A rare genetic primary lymphedema characterized by uniform, widespread lymphedema, often with systemic involvement such as intestinal and pulmonary lymphangiectasia, pleural and pericardial effusions, and chylothorax. There is a high incidence of non-immune hydrops fetalis, which may result in fetal demise or fully resolve after birth. Severe, recurrent facial cellulitis is observed in some patients. Presence of epicanthic folds or micrognathia has occasionally been reported, while intelligence is normal, and seizures are absent.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"1,000","Age_at_Onset_Snippet_Text__c":"at a variety of ages","SourceID__c":"ORPHA:568062","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0014797","ORPHANET_ID__c":"ORPHA:568062","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Displasia linfática generalizada asociada al gen piezo1 con hidropesía fetal no inmunológico","Spanish_Description_Source__c":null,"Spanish_Description__c":null,"Spanish_Disease_Name__c":"displasia linfática generalizada asociada al gen piezo1 con hidropesía fetal no inmunológico","Spanish_GARD_Synonym__c":"displasia linfática generalizada asociada al gen piezo1 con afectación sistémica; displasia linfática generalizada asociada al gen piezo1 con hidropesía fetal no inmunológica; displasia linfática generalizada de fotiou; hidrops fetal linfático asociado al gen piezo1","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":"A rare genetic primary lymphedema characterized by uniform, widespread lymphedema, often with systemic involvement such as intestinal and pulmonary lymphangiectasia, pleural and pericardial effusions, and chylothorax. There is a high incidence of non-immune hydrops fetalis, which may result in fetal demise or fully resolve after birth. Severe, recurrent facial cellulitis is observed in some patients. Presence of epicanthic folds or micrognathia has occasionally been reported, while intelligence is normal, and seizures are absent.","Curated_Disease_Description_Source__c":"ORPHA:568062","GARD_Synonym__c":"generalised lymphatic dysplasia of fotiou; generalized lymphatic dysplasia of fotiou; lmph3; lmphm6; lymphedema, hereditary, iii; lymphedema, hereditary, type iii; piezo type mechanosensitive ion channel component 1-related generalized lymphatic dysplasia with non-immune hydrops fetalis; piezo1-related generalised lymphatic dysplasia with systemic involvement; piezo1-related generalized lymphatic dysplasia with non-immune hydrops fetalis; piezo1-related generalized lymphatic dysplasia with systemic involvement; piezo1-related lrhf/gld; piezo1-related lymphatic-related hydrops fetalis","Name":"Lymphatic malformation 6","Curated_USA_Estimate__c":"1,000","estimateUsa":"1,000"}],"GARD_Disease_Tag__c":[{"Tag_Name__c":"Genetics","Tag_Category__c":"Cause;Disease Category;Specialist","category_description":"Genetic diseases affect the DNA, or genetic instructions, which directs how tissues, organs, and body systems function.","curated_tag_name":"Genetic diseases"},{"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":"Infancy","Provided_By__c":"ORPHA:568062"},{"Age_At_Onset__c":"Antenatal","Provided_By__c":"ORPHA:568062"},{"Age_At_Onset__c":"Childhood","Provided_By__c":"ORPHA:568062"},{"Age_At_Onset__c":"Neonatal","Provided_By__c":"ORPHA:568062"}],"External_Identifier_Disease__c":[{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C4225184","Source__c":"C4225184","Xref__c":"C4225184"},{"URL__c":"https://www.omim.org/entry/616843","Source__c":"C4225184; MONDO:0014797; ORPHA:568062","Xref__c":"OMIM:616843"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=908120","Source__c":"C4225184","Xref__c":"MEDGEN:908120"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=1222667006","Source__c":"C4225184","Xref__c":"1222667006"},{"URL__c":"https://www.orpha.net/en/disease/detail/568062","Source__c":"MONDO:0014797","Xref__c":"ORPHA:568062"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0014797","Source__c":"GARD:0022301","Xref__c":"MONDO:0014797"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"PIEZO1","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["Autosomal recessive"],"GARD_Disease_Feature__c":[{"Provided_By__c":"OMIM:616843","Feature__r":{"HPO_Description__c":"Localized fluid retention and tissue swelling caused by a compromised lymphatic system.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001004","HPO_Synonym__c":"Lymphatic obstruction; Lymphoedema; Onset of lymphedema around puberty; Swelling caused by excess lymph fluid under skin","HPO_Name__c":"Lymphedema","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:616843","Feature__r":{"HPO_Description__c":"Accumulation of clear fluid in the between the layers of membrane (tunica vaginalis) surrounding the testis.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000034","HPO_Synonym__c":"Testicular hydrocele","HPO_Name__c":"Hydrocele testis","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:616843","Feature__r":{"HPO_Description__c":"The presence of excess amniotic fluid in the uterus during pregnancy.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001561","HPO_Synonym__c":"High levels of amniotic fluid; Hydramnios","HPO_Name__c":"Polyhydramnios","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:616843","Feature__r":{"HPO_Description__c":"Edema affecting the region situated around the orbit of the eye.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0100539","HPO_Synonym__c":"Periorbital cellulitis","HPO_Name__c":"Periorbital edema","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:616843","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":"OMIM:616843","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000282","HPO_Synonym__c":"Facial puffiness; Facial swelling; Swelling of the face","HPO_Name__c":"Facial edema","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:616843","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A kind of congenital defect of the anterior abdominal wall in which the intestines are evident through the thin, lax, and protruding abdominal wall in affected infants.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0004392","HPO_Synonym__c":"Prune belly","HPO_Name__c":"Prune belly","Feature_System__c":"Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:616843","Feature__r":{"HPO_Description__c":"Generalized abnormal accumulation of fluid beneath the skin, or in one or more cavities of the body.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0007430","HPO_Synonym__c":"Generalized tissue edema","HPO_Name__c":"Generalized edema","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:616843","Feature__r":{"HPO_Description__c":"Pterygium colli is a congenital skin fold that runs along the sides of the neck down to the shoulders. It involves an ectopic fibrotic facial band superficial to the trapezius muscle. Excess hair-bearing skin is also present and extends down the cervical region well beyond the normal hairline.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000465","HPO_Synonym__c":"Neck webbing; Pterygium colli; Webbed neck","HPO_Name__c":"Webbed neck","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:616843","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"The presence of an excessive amount of fluid in the pleural cavity.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002202","HPO_Synonym__c":"Fluid around lungs","HPO_Name__c":"Pleural effusion","Feature_System__c":"Respiratory system","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:616843","Feature__r":{"HPO_Description__c":"An abnormal accumulation of fluid beneath the skin, or in one or more cavities of the body.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000969","HPO_Synonym__c":"Dropsy; Fluid retention; Hydrops; Oedema; Water retention","HPO_Name__c":"Edema","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:616843","Feature__r":{"HPO_Description__c":"A decreased magnitude of the sensory perception of sound.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000365","HPO_Synonym__c":"Deafness; Hearing defect; Hearing impairment; Hypacusis","HPO_Name__c":"Hearing impairment","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:616843","Feature__r":{"HPO_Description__c":"A delay in the achievement of motor or mental milestones in the domains of development of a child, including motor skills, speech and language, cognitive skills, and social and emotional skills. This term should only be used to describe children younger than five years of age.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001263","HPO_Synonym__c":"Delayed cognitive development; Delayed development; Delayed developmental milestones; Delayed intellectual development; Delayed milestones; Delayed psychomotor development; Developmental delay; Developmental delay in early childhood; Developmental delay, global; Developmental retardation; GDD; Lack of psychomotor development; Motor and developmental delay; Motormental retardation; Psychomotor delay; Psychomotor development deficiency; Psychomotor development failure; Psychomotor developmental delay; Retarded development; Retarded mental development; Retarded psychomotor development","HPO_Name__c":"Global developmental delay","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:616843","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Angiectasia of lymph vessels (i.e., dilatation of lymphatic vessels) in the intestines.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002593","HPO_Name__c":"Intestinal lymphangiectasia","Feature_System__c":"Cardiovascular System; Immune System; Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:616843","Feature__r":{"HPO_Description__c":"A defect of the chest wall characterized by a depression of the sternum, giving the chest (\\\"pectus\\\") a caved-in (\\\"excavatum\\\") appearance.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000767","HPO_Synonym__c":"Funnel chest","HPO_Name__c":"Pectus excavatum","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:616843","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Atrial septal defect (ASD) is a congenital abnormality of the interatrial septum that enables blood flow between the left and right atria via the interatrial septum.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001631","HPO_Synonym__c":"An opening in the wall separating the top two chambers of the heart; ASD; Atria septal defect; Atrial septum defect; Atrioseptal defect; Defect in the atrial septum; Hole in heart wall separating two upper heart chambers","HPO_Name__c":"Atrial septal defect","Feature_System__c":"Cardiovascular System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:616843","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"A bacterial infection and inflammation of the skin und subcutaneous tissues.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0100658","HPO_Synonym__c":"Bacterial infection of skin; Skin infection","HPO_Name__c":"Cellulitis","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:616843","Feature__r":{"HPO_Description__c":"An abnormality of the pinna, which is also referred to as the auricle or external ear.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000377","HPO_Synonym__c":"Abnormal form of ears; Abnormally shaped ears; Auricular malformation; Deformed auricles; Deformed ears; Dysplastic ears; Malformation of auricle; Malformed auricles; Malformed ears; Malformed external ears; Minor malformation of the auricles; Poorly defined conchae","HPO_Name__c":"Abnormal pinna morphology","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:616843","Feature__r":{"HPO_Description__c":"A type of hydrops fetalis in which there is no identifiable circulating antibody to red blood cell antigens .","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001790","HPO_Synonym__c":"Hydrops fetalis, non-immune; Hydrops fetalis, nonimmune; Non-immune fetal hydrops; Nonimmune hydrops","HPO_Name__c":"Nonimmune hydrops fetalis","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:616843","Feature__r":{"HPO_Description__c":"A buildup of fluid that causes swelling in the soft tissues of the genital area.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0031188","HPO_Name__c":"Genital edema","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:616843","Feature__r":{"HPO_Description__c":"A condition in which the stomach contents leak backwards from the stomach into the esophagus through the lower esophageal sphincter.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002020","HPO_Synonym__c":"Acid reflux; Acid reflux disease; Gastro-esophageal reflux; Gastroesophageal reflux disease; GERD; GORD; Heartburn","HPO_Name__c":"Gastroesophageal reflux","Feature_System__c":"Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:616843","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"}},{"Provided_By__c":"OMIM:616843","Feature__r":{"HPO_Description__c":"Enlarged and tortuous veins.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002619","HPO_Name__c":"Varicose veins","Feature_System__c":"Cardiovascular System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:616843","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Abnormal increased size of the spleen.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001744","HPO_Synonym__c":"Increased spleen size; Large spleen","HPO_Name__c":"Splenomegaly","Feature_System__c":"Cardiovascular System; Immune System; Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:616843","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A height below that which is expected according to age and sex norms. Although there is no universally accepted definition of short stature, many refer to \\\"short stature\\\" as height more than 2 standard deviations below the mean for age and sex (or below the 3rd percentile for age and sex dependent norms).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0004322","HPO_Synonym__c":"Decreased body height; Height less than 3rd percentile; Short stature; Small stature; Stature below 3rd percentile","HPO_Name__c":"Short stature","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:616843","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Formation of a blot clot in a deep vein. The clot often blocks blood flow, causing swelling and pain. The deep veins of the leg are most often affected.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002625","HPO_Synonym__c":"Blood clot in a deep vein; Deep vein thrombosis; Multiple deep venous thrombosis","HPO_Name__c":"Deep venous thrombosis","Feature_System__c":"Blood and Blood-Forming Tissue","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:616843","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":"OMIM:616843","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Accumulation of excessive amounts of lymphatic fluid (chyle) in the pleural cavity.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0010310","HPO_Name__c":"Chylothorax","Feature_System__c":"Respiratory system","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:616843","Feature__r":{"HPO_Description__c":"Laterally protruding ear that lacks antihelical folding (including absence of inferior and superior crura).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000378","HPO_Synonym__c":"Cup-shaped ears; Cupped ear; Simple, cup-shaped ears","HPO_Name__c":"Cupped ear","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:616843","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"A fold of skin starting above the medial aspect of the upper eyelid and arching downward to cover, pass in front of and lateral to the medial canthus.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000286","HPO_Synonym__c":"Epicanthal fold; Epicanthal folds; Epicanthic folds; Eye folds; Palpebronasal fold; Plica palpebronasalis; Prominent eye folds","HPO_Name__c":"Epicanthus","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:616843","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"}}],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics","Dermatology","Congenital Abnormality"],"Specialist":["Genetics","Dermatology","Vascular Medicine","Pediatrics"],"Account":["Dermatology"]},"synonyms":["generalised lymphatic dysplasia of fotiou"," generalized lymphatic dysplasia of fotiou"," lmph3"," lmphm6"," lymphedema, hereditary, iii"," lymphedema, hereditary, type iii"," piezo type mechanosensitive ion channel component 1-related generalized lymphatic dysplasia with non-immune hydrops fetalis"," piezo1-related generalised lymphatic dysplasia with systemic involvement"," piezo1-related generalized lymphatic dysplasia with non-immune hydrops fetalis"," piezo1-related generalized lymphatic dysplasia with systemic involvement"," piezo1-related lrhf/gld"," piezo1-related lymphatic-related hydrops fetalis"]}