{"Name":"Paternal uniparental disomy of chromosome 6","DiseaseID__c":"GARD:0019340","id":19340,"encodedName":"paternal-uniparental-disomy-of-chromosome-6","IsDeleted":false,"Disease_Name_Full__c":"Paternal uniparental disomy of chromosome 6","Xref_IDs__c":"770670003; C4749378; MEDGEN:1662050; MONDO:0019921; ORPHA:96191","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":3,"Disease_Characteristics_Score__c":7,"No_of_Age_at_Onset__c":2,"Description_Source__c":"MONDO:0019921","Disease_Description__c":"Paternal uniparental disomy of chromosome 6 is an uniparental disomy of paternal origin characterized by intrauterine growth retardation, transient neonatal diabetes mellitus, and macroglossia.","GARD_Name__c":"Paternal uniparental disomy of chromosome 6","GARD_Synonym__c":"paternal uniparental disomy of chromosome type 6; upd(6)pat","Curated_Disease_Description_Source__c":"ORPHA:96191","Curated_Disease_Description__c":"Paternal uniparental disomy of chromosome 6 is a uniparental disomy of paternal origin characterized by intrauterine growth retardation, transient neonatal diabetes mellitus, and macroglossia.","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:96191","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0019921","ORPHANET_ID__c":"ORPHA:96191","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Síndrome de disomía uniparental paterna del cromosoma 6","Spanish_Description_Source__c":"ORPHA:96191","Spanish_Description__c":"La disomía uniparental paterna del cromosoma 6, es una disomía uniparental de origen paterno caracterizada por retraso del crecimiento intrauterino, diabetes mellitus neonatal transitoria y macroglosia.","Spanish_Disease_Name__c":"síndrome de disomía uniparental paterna del cromosoma 6","Spanish_GARD_Synonym__c":"upd(6)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 6 is a uniparental disomy of paternal origin characterized by intrauterine growth retardation, transient neonatal diabetes mellitus, and macroglossia.","Curated_Disease_Description_Source__c":"ORPHA:96191","GARD_Synonym__c":"paternal uniparental disomy of chromosome type 6; upd(6)pat","Name":"Paternal uniparental disomy of chromosome 6","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":"Antenatal","Provided_By__c":"ORPHA:96191"},{"Age_At_Onset__c":"Neonatal","Provided_By__c":"ORPHA:96191"}],"External_Identifier_Disease__c":[{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=1662050","Source__c":"C4749378","Xref__c":"MEDGEN:1662050"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C4749378","Source__c":"C4749378","Xref__c":"C4749378"},{"URL__c":"https://www.orpha.net/en/disease/detail/96191","Source__c":"C4749378; MONDO:0019921; ORPHA:96191","Xref__c":"ORPHA:96191"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=770670003","Source__c":"C4749378","Xref__c":"770670003"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0019921","Source__c":"GARD:0019340","Xref__c":"MONDO:0019921"}],"GARD_Disease_Feature__c":[{"Provided_By__c":"ORPHA:96191","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001944","HPO_Synonym__c":"Dehydration; Exsiccosis","HPO_Name__c":"Dehydration","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:96191","HPO_Frequency__c":"Very frequent (80-99%)","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:96191","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"The onset of secondary sexual characteristics before a normal age. Although it is difficult to define normal age ranges because of the marked variation with which puberty begins in normal children, precocious puberty can be defined as the onset of puberty before the age of 8 years in girls or 9 years in boys.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000826","HPO_Synonym__c":"Early onset of puberty; Early puberty","HPO_Name__c":"Precocious puberty","Feature_System__c":"Endocrine System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:96191","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"A hole between the two bottom chambers (ventricles) of the heart. The defect is centered around the most superior aspect of the ventricular septum.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001629","HPO_Synonym__c":"Hole in heart wall separating two lower heart chambers; Ventricular septal defects; Ventriculoseptal defect; VSD","HPO_Name__c":"Ventricular septal defect","Feature_System__c":"Cardiovascular System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:96191","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"An abnormality of the placenta, the organ that connects the developing fetus to the uterine wall to enable nutrient uptake, waste elimination, and gas exchange.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0100767","HPO_Synonym__c":"Abnormality of the placenta; Placental issue","HPO_Name__c":"Abnormal placenta morphology","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:96191","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"An incomplete closure of the abdominal wall.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0010866","HPO_Synonym__c":"Abdominal wall defect; Congenital anterior abdominal wall defect","HPO_Name__c":"Abdominal wall defect","Feature_System__c":"Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:96191","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"An abnormality of the face.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000271","HPO_Synonym__c":"Abnormal face; Abnormality of the face; Facial abnormality","HPO_Name__c":"Abnormality of the face","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:96191","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Protrusion of abdominal contents through a defect in the abdominal wall musculature around the umbilicus. Skin and subcutaneous tissue overlie the defect.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001537","HPO_Synonym__c":"Umbilical hernias","HPO_Name__c":"Umbilical hernia","Feature_System__c":"Musculoskeletal System; Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:96191","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Abnormally increased size of the liver.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002240","HPO_Synonym__c":"Enlarged liver","HPO_Name__c":"Hepatomegaly","Feature_System__c":"Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:96191","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Increased size of the heart, clinically defined as an increased transverse diameter of the cardiac silhouette that is greater than or equal to 50% of the transverse diameter of the chest (increased cardiothoracic ratio) on a posterior-anterior projection of a chest radiograph or a computed tomography.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001640","HPO_Synonym__c":"Enlarged heart; Increased heart size","HPO_Name__c":"Cardiomegaly","Feature_System__c":"Cardiovascular System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:96191","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Increased convexity of the occiput (posterior part of the skull).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000269","HPO_Synonym__c":"Prominent back of the skull; Prominent posterior cranium; Prominent posterior skull; Protruding occiput","HPO_Name__c":"Prominent occiput","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:96191","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Abnormally decreased size of the anterior fontanelle with respect to age-dependent norms.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000237","HPO_Synonym__c":"Small anterior fontanel; Small forehead fontanel","HPO_Name__c":"Small anterior fontanelle","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:96191","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000857","HPO_Name__c":"Neonatal insulin-dependent diabetes mellitus","Feature_System__c":"Endocrine System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:96191","HPO_Frequency__c":"Very frequent (80-99%)","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:96191","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Slow or limited growth after birth.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0008897","HPO_Synonym__c":"Growth delay as children; Growth retardation as children; Postnatal growth deceleration; Postnatal growth deficiency; Postnatal growth failure","HPO_Name__c":"Postnatal growth retardation","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:96191","HPO_Frequency__c":"Very frequent (80-99%)","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:96191","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Reduced depth of the orbits associated with prominent-appearing ocular globes.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000586","HPO_Synonym__c":"Decreased depth of eye sockets; Decreased depth of orbits; Shallow eye sockets; Small shallow orbits","HPO_Name__c":"Shallow orbits","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:96191","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"A generalized myoclonic seizure is a type of generalized motor seizure characterized by bilateral, sudden, brief (<100 ms) involuntary single or multiple contraction of muscles or muscle groups of variable topography (axial, proximal limb, distal). Myoclonus is less regularly repetitive and less sustained than is clonus.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002123","HPO_Synonym__c":"Generalised epileptic myoclonus; Generalised myoclonic seizure; Generalized epileptic myoclonus; Generalized myoclonic seizures; Myoclonus seizures","HPO_Name__c":"Generalized myoclonic seizure","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:96191","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000065","HPO_Synonym__c":"Enlarged vaginal lips; Enlargement of the labia; Enlargement of the vaginal lips","HPO_Name__c":"Labial hypertrophy","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:96191","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"An abnormality of the lobule of pinna.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000363","HPO_Synonym__c":"Abnormal earlobe; Abnormal lobe of ear; Abnormality of auricular lobule; Abnormality of ear lobe; Abnormality of earlobe; Abnormality of lobulus auriculae","HPO_Name__c":"Abnormal earlobe morphology","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:96191","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Distance between subnasale and pronasale more than two standard deviations above the mean, or alternatively, an apparently increased anterior protrusion of the nasal tip.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000448","HPO_Synonym__c":"Big nose; Disproportionately large nose; Increased nasal size; Increased size of nose; Large nose; Prominent nose; Pronounced nose","HPO_Name__c":"Prominent nose","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:96191","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Respiratory difficulty as newborn.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002643","HPO_Synonym__c":"Infantile respiratory distress; Neonatal respiratory distress; Newborn respiratory distress; Respiratory distress, neonatal","HPO_Name__c":"Neonatal respiratory distress","Feature_System__c":"Respiratory system","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:96191","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Underdevelopment of a fingernail.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001804","HPO_Synonym__c":"Small fingernail; Underdeveloped fingernail","HPO_Name__c":"Hypoplastic fingernail","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:96191","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Diminished amniotic fluid volume in pregnancy.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001562","HPO_Synonym__c":"Low levels of amniotic fluid; Maternal oligohydramnios","HPO_Name__c":"Oligohydramnios","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:96191","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Height of the palate more than 2 SD above the mean (objective) or palatal height at the level of the first permanent molar more than twice the height of the teeth (subjective).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000218","HPO_Synonym__c":"Elevated palate; High arched palate; High palate; High, arched palate; High-arched palate; Increased palatal height; Palate high-arched; Palate, high-arched","HPO_Name__c":"High palate","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:96191","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"An abnormality in which the mandible is mislocalised posteriorly.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000278","HPO_Synonym__c":"Lower jaw retrognathia; Lower jaw retrusion; Mandibular retrognathia; Mandibular retrusion; Receding chin; Receding lower jaw; Receding mandible; Retrognathia of lower jaw; Retrusion of lower jaw; Weak chin; Weak jaw","HPO_Name__c":"Retrognathia","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:96191","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Increased length and width of the tongue.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000158","HPO_Synonym__c":"Abnormally large tongue; Hyperplasia of the tongue; Hypertrophy of the tongue; Increased size of tongue; Large tongue; Tongue hypertrophy","HPO_Name__c":"Macroglossia","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:96191","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"The capability that a joint (or a group of joints) has to move, passively and/or actively, beyond normal limits along physiological axes.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001382","HPO_Synonym__c":"Double-Jointed; Extensible joints; Flexible joints; Hyperextensible joints; Increased joint mobility; Increased mobility of joints; Joint hyperextensibility; Joint hyperflexibility; Joint hyperlaxity; Joint laxity; Joints move beyond expected range of motion; Lax joints; Loose-jointedness","HPO_Name__c":"Joint hypermobility","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:96191","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Hyperplasia of the gingiva (that is, a thickening of the soft tissue overlying the alveolar ridge. The degree of thickening ranges from involvement of the interdental papillae alone to gingival overgrowth covering the entire tooth crown.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000212","HPO_Synonym__c":"Gingival enlargement; Gingival hyperplasia; Gum enlargement; Gum hypertrophy; Hypertrophic gingivitis","HPO_Name__c":"Gingival overgrowth","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:96191","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"}}],"tags":{"Account":["Chromosomal Anomaly"],"Cause":["Chromosomal Anomaly","Genetics"],"Disease Category":["Genetics","Congenital Abnormality"],"Specialist":["Genetics","Pediatrics"]},"synonyms":["paternal uniparental disomy of chromosome type 6"," upd(6)pat"]}