{"Name":"Isolated hemihyperplasia","DiseaseID__c":"GARD:0002630","id":2630,"encodedName":"isolated-hemihyperplasia","IsDeleted":false,"Disease_Name_Full__c":"Isolated hemihyperplasia","Xref_IDs__c":"C1856184; C565524; MEDGEN:383853; MONDO:0009331; OMIM:235000; ORPHA:2128","USA_Estimate__c":null,"No_of_Specialist_Tagsa__c":5,"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":2,"Disease_Characteristics_Score__c":6,"No_of_Age_at_Onset__c":3,"Description_Source__c":"MONDO:0009331","Disease_Description__c":"Isolated hemihyperplasia is a rare overgrowth syndrome characterized by an asymmetric regional body overgrowth, involving at least one limb, and associated with an increased risk of developing embryonal tumors, principally nephroblastoma (see this term) and hepoblastoma.","GARD_Name__c":"Isolated hemihyperplasia","GARD_Synonym__c":"hemi 3 syndrome; hemicorporal hypertrophy; hemihypertrophy; ih; isolated hemihypertrophy","Curated_Disease_Description_Source__c":"MONDO:0009331","Curated_Disease_Description__c":"Isolated hemihyperplasia is a rare overgrowth syndrome characterized by an asymmetric regional body overgrowth, involving at least one limb, and associated with an increased risk of developing embryonal tumors, principally nephroblastoma and hepoblastoma.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":null,"Age_at_Onset_Snippet_Text__c":"at a variety of ages","SourceID__c":"ORPHA:2128","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0009331","ORPHANET_ID__c":"ORPHA:2128","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Hemihiperplasia aislada","Spanish_Description_Source__c":"ORPHA:2128","Spanish_Description__c":"La hemihiperplasia aislada es un síndrome raro de sobrecrecimiento caracterizado por sobrecrecimiento corporal regional asimétrico que incluye al menos una extremidad. Se asocia con un riesgo incrementado de desarrollar tumores embrionarios, principalmente nefroblastoma (ver este término) y hepatoblastoma.","Spanish_Disease_Name__c":"hemihiperplasia aislada","Spanish_GARD_Synonym__c":"hemihipertrofia aislada; hipertrofia hemicorporal; síndrome hemi 3","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":"Isolated hemihyperplasia is a rare overgrowth syndrome characterized by an asymmetric regional body overgrowth, involving at least one limb, and associated with an increased risk of developing embryonal tumors, principally nephroblastoma and hepoblastoma.","Curated_Disease_Description_Source__c":"MONDO:0009331","GARD_Synonym__c":"hemi 3 syndrome; hemicorporal hypertrophy; hemihypertrophy; ih; isolated hemihypertrophy","Name":"Isolated hemihyperplasia","estimateUsa":""}],"GARD_Disease_Tag__c":[{"Tag_Name__c":"Cancer - Oncologist","Tag_Category__c":"Specialist"},{"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":"Endocrine","Tag_Category__c":"Disease Category;Specialist","category_description":"Endocrine diseases affect hormone production or how the body responds to a specific hormone(s).","curated_tag_name":"Endocrine 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":"Otolaryngology","Tag_Category__c":"Specialist"},{"Tag_Name__c":"Pediatrics","Tag_Category__c":"Specialist"}],"Age_At_Onset__c":[{"Age_At_Onset__c":"Infancy","Provided_By__c":"ORPHA:2128"},{"Age_At_Onset__c":"Adolescent","Provided_By__c":"ORPHA:2128"},{"Age_At_Onset__c":"Childhood","Provided_By__c":"ORPHA:2128"}],"Diagnosis__c":[{"Type__c":"GTR","Curie__c":"MEDGEN:C0332890"}],"External_Identifier_Disease__c":[{"URL__c":"https://raresource.nih.gov/diseases/filter/0002630","Source__c":"RareSource"},{"URL__c":"https://www.ncbi.nlm.nih.gov/books/NBK1294","Source__c":"Gene Review","Xref__c":"NBK1294"},{"URL__c":"https://www.orpha.net/en/disease/detail/2128","Source__c":"C1856184; MONDO:0009331; ORPHA:2128","Xref__c":"ORPHA:2128"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C565524","Source__c":"MONDO:0009331","Xref__c":"C565524"},{"URL__c":"https://www.omim.org/entry/235000","Source__c":"C1856184; MONDO:0009331; ORPHA:2128","Xref__c":"OMIM:235000"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=383853","Source__c":"C1856184","Xref__c":"MEDGEN:383853"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C1856184","Source__c":"C1856184","Xref__c":"C1856184"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0009331","Source__c":"GARD:0002630","Xref__c":"MONDO:0009331"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"IGF2","GHR_URL__c":"https://medlineplus.gov/genetics/gene/igf2","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true},{"GeneSymbol__c":"H19","GHR_URL__c":"https://medlineplus.gov/genetics/gene/h19","Gene_Type__c":"non-coding RNA","Causal_Gene__c":true},{"GeneSymbol__c":"KCNQ1OT1","GHR_URL__c":"https://medlineplus.gov/genetics/gene/kcnq1ot1","Gene_Type__c":"non-coding RNA","Causal_Gene__c":true}],"Inheritance__c":["Autosomal dominant"],"GARD_Disease_Feature__c":[{"Provided_By__c":"ORPHA:2128","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Any structural anomaly of the heart and blood vessels.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0030680","HPO_Synonym__c":"Abnormality of cardiovascular system morphology; Cardiovascular malformations","HPO_Name__c":"Abnormal cardiovascular system morphology","Feature_System__c":"Cardiovascular System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2128","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Testis in inguinal canal. That is, absence of one or both testes from the scrotum owing to failure of the testis or testes to descend through the inguinal canal to the scrotum.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000028","HPO_Synonym__c":"Cryptorchism; Undescended testes; Undescended testis","HPO_Name__c":"Cryptorchidism","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2128","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Protrusion of the contents of the abdominal cavity through the inguinal canal.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000023","HPO_Name__c":"Inguinal hernia","Feature_System__c":"Musculoskeletal System; Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2128","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Protrusion of the meninges and portions of the spinal cord through a defect of the vertebral column.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002475","HPO_Synonym__c":"Meningomyelocele; Spina bifida cystica","HPO_Name__c":"Myelomeningocele","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2128","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Lack of symmetry between the left and right halves of the thorax.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001555","HPO_Synonym__c":"Asymmetric chest","HPO_Name__c":"Asymmetry of the thorax","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2128","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Any abnormality of the teeth.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000164","HPO_Synonym__c":"Abnormal dentition; Abnormal teeth; Dental abnormalities; Dental abnormality; Dental anomalies","HPO_Name__c":"Abnormality of the dentition","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2128","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"An abnormal difference between the left and right sides of the face.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000324","HPO_Synonym__c":"Asymmetric facies; Asymmetry of face; Asymmetry of right and left side of face; Crooked face; Facial asymmetry; Unsymmetrical face","HPO_Name__c":"Facial asymmetry","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2128","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Mild intellectual disability (ID) is defined as a type of ID characterized by mildly sub-average adaptive functioning and intellectual functioning, with an intelligence quotient (IQ) the range of 50-69.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001256","HPO_Synonym__c":"Intellectual disability, mild; Mental retardation, borderline-mild; Mild and nonprogressive mental retardation; Mild mental retardation","HPO_Name__c":"Mild intellectual disability","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2128","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Reduced ability to perceive painful stimuli.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0007328","HPO_Synonym__c":"Decreased pain sensation; Decreased pinprick sensation; Impaired pain sensation","HPO_Name__c":"Impaired pain sensation","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2128","HPO_Frequency__c":"Very frequent (80-99%)","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:2128","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Overgrowth of only one side of the body.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001528","HPO_Synonym__c":"Asymmetric limb hypertrophy; Asymmetric overgrowth","HPO_Name__c":"Hemihypertrophy","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2128","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"The presence of a nephroblastoma, which is a neoplasm of the kidney that primarily affects children.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002667","HPO_Synonym__c":"Wilms tumor","HPO_Name__c":"Nephroblastoma","HPO_Feature_Type__c":"Symptom"}}],"tags":{"Specialist":["Cancer - Oncologist","Genetics","Endocrine","Otolaryngology","Pediatrics"],"Cause":["Genetics"],"Disease Category":["Genetics","Endocrine","Congenital Abnormality"]},"synonyms":["hemi 3 syndrome"," hemicorporal hypertrophy"," hemihypertrophy"," ih"," isolated hemihypertrophy"]}