{"Name":"Paternal uniparental disomy of chromosome 5","DiseaseID__c":"GARD:0019339","id":19339,"encodedName":"paternal-uniparental-disomy-of-chromosome-5","IsDeleted":false,"Disease_Name_Full__c":"Paternal uniparental disomy of chromosome 5","Xref_IDs__c":"770669004; C4749377; MEDGEN:1652849; MONDO:0019920; ORPHA:96190","USA_Estimate__c":null,"No_of_Specialist_Tagsa__c":2,"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":7,"No_of_Age_at_Onset__c":2,"Description_Source__c":"MONDO:0019920","Disease_Description__c":"Paternal uniparental disomy of chromosome 5 is an uniparental disomy of paternal origin that most likely does not have any phenotypic expression except from cases of homozygosity for a recessive disease mutation for which only father is a carrier.","GARD_Name__c":"Paternal uniparental disomy of chromosome 5","GARD_Synonym__c":"paternal uniparental disomy of chromosome type 5; upd(5)pat","Curated_Disease_Description_Source__c":"ORPHA:96190","Curated_Disease_Description__c":"Paternal uniparental disomy of chromosome 5 is a uniparental disomy of paternal origin that most likely does not have any phenotypic expression except in cases of homozygosity for a recessive disease mutation for which only the father is a carrier.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":null,"Age_at_Onset_Snippet_Text__c":"during Pregnancy and as a Newborn","SourceID__c":"ORPHA:96190","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0019920","ORPHANET_ID__c":"ORPHA:96190","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Síndrome de disomía uniparental paterna del cromosoma 5","Spanish_Description_Source__c":"ORPHA:96190","Spanish_Description__c":"La disomía uniparental paterna del cromosoma 5 es una disomía uniparental de origen paterno que probablemente no tenga ninguna expresión fenotípica, excepto en el caso de enfermedades recesivas de las que sólo el padre es portador y en el que esta disomía implicaría que la mutación estuviese en homocigosis.","Spanish_Disease_Name__c":"síndrome de disomía uniparental paterna del cromosoma 5","Spanish_GARD_Synonym__c":"upd(5)pat","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":"Paternal uniparental disomy of chromosome 5 is a uniparental disomy of paternal origin that most likely does not have any phenotypic expression except in cases of homozygosity for a recessive disease mutation for which only the father is a carrier.","Curated_Disease_Description_Source__c":"ORPHA:96190","GARD_Synonym__c":"paternal uniparental disomy of chromosome type 5; upd(5)pat","Name":"Paternal uniparental disomy of chromosome 5","estimateUsa":""}],"Organization_Supported_Diseases__c":[{"Account_Name__c":"Unique","Website__c":"https://rarechromo.org/"},{"Account_Name__c":"Chromosome Disorder Outreach","Website__c":"https://chromodisorder.org/"}],"GARD_Disease_Tag__c":[{"Tag_Name__c":"Chromosomal Anomaly","Tag_Category__c":"Account;Cause","curated_tag_name":"Chromosome disorders"},{"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":"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":"Pediatrics","Tag_Category__c":"Specialist"}],"Age_At_Onset__c":[{"Age_At_Onset__c":"Neonatal","Provided_By__c":"ORPHA:96190"},{"Age_At_Onset__c":"Antenatal","Provided_By__c":"ORPHA:96190"}],"External_Identifier_Disease__c":[{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C4749377","Source__c":"C4749377","Xref__c":"C4749377"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=1652849","Source__c":"C4749377","Xref__c":"MEDGEN:1652849"},{"URL__c":"https://www.orpha.net/en/disease/detail/96190","Source__c":"C4749377; MONDO:0019920; ORPHA:96190","Xref__c":"ORPHA:96190"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0019920","Source__c":"GARD:0019339","Xref__c":"MONDO:0019920"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=770669004","Source__c":"C4749377","Xref__c":"770669004"}],"GARD_Disease_Feature__c":[{"Provided_By__c":"ORPHA:96190","HPO_Frequency__c":"Very frequent (80-99%)","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":"ORPHA:96190","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:96190","HPO_Frequency__c":"Very frequent (80-99%)","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":"ORPHA:96190","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0010593","HPO_Synonym__c":"Abnormality of fibular epiphyses; Abnormality of the end part of the calf bone","HPO_Name__c":"Abnormal fibular epiphysis morphology","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:96190","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002654","HPO_Name__c":"Multiple epiphyseal dysplasia","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:96190","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"A kind of atrial septum defect arising from an enlarged foramen ovale, inadequate growth of the septum secundum, or excessive absorption of the septum primum.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001684","HPO_Synonym__c":"Atrial septal defect, ostium secundum type; Ostium secundum atrial septal defect; Patent ostium secundum","HPO_Name__c":"Secundum atrial septal defect","Feature_System__c":"Cardiovascular System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:96190","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Asymmetry of the posterior part of the skull.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0011327","HPO_Synonym__c":"Deformational posterior plagiocephaly; Occipital plagiocephaly","HPO_Name__c":"Posterior plagiocephaly","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:96190","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Generalized muscular hypotonia (abnormally low muscle tone).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001290","HPO_Synonym__c":"Generalized decreased muscle tone; Generalized muscular hypotonia; Hypotonia, generalized","HPO_Name__c":"Generalized hypotonia","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:96190","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Disproportionate shortening of the proximal segment of the arm (i.e. the humerus).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0004991","HPO_Name__c":"Rhizomelic arm shortening","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:96190","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Diffusely large eye (with megalocornea) without glaucoma.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001090","HPO_Synonym__c":"Increased size of eyes; Large eyes; Megalophthalmos","HPO_Name__c":"Abnormally large globe","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:96190","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"An abnormal curvature of the spine in both a coronal (lateral) and sagittal (back-to-front) plane.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002751","HPO_Name__c":"Kyphoscoliosis","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:96190","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"A mental disorder characterized by a disintegration of thought processes and emotional responsiveness. It most commonly manifests as auditory hallucinations, paranoid or bizarre delusions, or disorganized speech and thinking. It is accompanied by significant social or occupational dysfunction. The onset of symptoms typically occurs in young adulthood, with a global lifetime prevalence of about 1%. This term is not a helpful parent term to describe abnormal experiences.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0100753","HPO_Name__c":"Schizophrenia","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:96190","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"A congenital anomaly of the urinary tract, in which the kidney is duplicated and is drained via two separate renal pelves and ureters.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000075","HPO_Synonym__c":"Duplex kidney; Duplicated kidney; Extra kidney","HPO_Name__c":"Renal duplication","Feature_System__c":"Digestive System","HPO_Feature_Type__c":"Symptom"}}],"tags":{"Account":["Chromosomal Anomaly"],"Cause":["Chromosomal Anomaly","Genetics"],"Disease Category":["Genetics","Congenital Abnormality"],"Specialist":["Genetics","Pediatrics"]},"synonyms":["paternal uniparental disomy of chromosome type 5"," upd(5)pat"]}