{"Name":"Pancreatic hypoplasia-diabetes-congenital heart disease syndrome","DiseaseID__c":"GARD:0000347","id":347,"encodedName":"pancreatic-hypoplasia-diabetes-congenital-heart-disease-syndrome","IsDeleted":false,"Disease_Name_Full__c":"Pancreatic hypoplasia-diabetes-congenital heart disease syndrome","Xref_IDs__c":"722206009; C2931296; C564011; DOID:0111733; MEDGEN:444022; MONDO:0010802; OMIM:600001; ORPHA:2255","USA_Estimate__c":"1,000","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":"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":6,"No_of_Age_at_Onset__c":1,"Description_Source__c":"MONDO:0010802","Disease_Description__c":"A rare, syndromic diabetes mellitus characterized by partial pancreatic agenesis, diabetes mellitus, and heart anomalies (including transposition of the great vessels, ventricular or atrial septal defects, pulmonary stenosis, or patent ductus arteriosis).","GARD_Name__c":"Pancreatic hypoplasia-diabetes-congenital heart disease syndrome","GARD_Synonym__c":"heart defects, congenital, and other congenital anomalies; pancreatic hypoplasia, congenital, with diabetes mellitus and congenital heart disease; pancreatic hypoplasia, diabetes mellitus, congenital heart disease syndrome; yorifuji okuno syndrome; yorifuji-okuno syndrome","Curated_Disease_Description_Source__c":"MONDO:0010802","Curated_Disease_Description__c":"A rare, syndromic diabetes mellitus characterized by partial pancreatic agenesis, diabetes mellitus, and heart anomalies (including transposition of the great vessels, ventricular or atrial septal defects, pulmonary stenosis, or patent ductus arteriosis).","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"1,000","Age_at_Onset_Snippet_Text__c":"at any time in life","SourceID__c":"ORPHA:2255","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0010802","ORPHANET_ID__c":"ORPHA:2255","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Síndrome de hipoplasia pancreática-diabetes-cardiopatía congénita","Spanish_Description_Source__c":"ORPHA:2255","Spanish_Description__c":"Es una diabetes mellitus sindrómica poco frecuente que se caracteriza por agenesia pancreática parcial, diabetes mellitus y anomalías cardíacas (que incluyen la transposición de grandes vasos, en los septos ventricular o atrial, estenosis pulmonar, o ductus arterioso persistente).","Spanish_Disease_Name__c":"síndrome de hipoplasia pancreática-diabetes-cardiopatía congénita","Spanish_GARD_Synonym__c":"síndrome de yorifuji-okuno","Category_Linearization__c":"ORPHA:97978","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, syndromic diabetes mellitus characterized by partial pancreatic agenesis, diabetes mellitus, and heart anomalies (including transposition of the great vessels, ventricular or atrial septal defects, pulmonary stenosis, or patent ductus arteriosis).","Curated_Disease_Description_Source__c":"MONDO:0010802","GARD_Synonym__c":"heart defects, congenital, and other congenital anomalies; pancreatic hypoplasia, congenital, with diabetes mellitus and congenital heart disease; pancreatic hypoplasia, diabetes mellitus, congenital heart disease syndrome; yorifuji okuno syndrome; yorifuji-okuno syndrome","Name":"Pancreatic hypoplasia-diabetes-congenital heart disease syndrome","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":"Neurology","Tag_Category__c":"Disease Category;Specialist","category_description":"Neurological diseases affect the brain, spinal cord, cranial nerves, autonomic nerves, or other peripheral nerves.","curated_tag_name":"Neurological 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":"Neurodevelopmental disabilities","Tag_Category__c":"Specialist","curated_tag_name":"Neurodevelopmental disabilities"},{"Tag_Name__c":"Pediatrics","Tag_Category__c":"Specialist"}],"Age_At_Onset__c":[{"Age_At_Onset__c":"All ages","Provided_By__c":"ORPHA:2255"}],"External_Identifier_Disease__c":[{"URL__c":"https://raresource.nih.gov/diseases/filter/0000347","Source__c":"RareSource"},{"URL__c":"https://www.orpha.net/en/disease/detail/2255","Source__c":"C2931296; MONDO:0010802; ORPHA:2255","Xref__c":"ORPHA:2255"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C564011","Source__c":"MONDO:0010802","Xref__c":"C564011"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=722206009","Source__c":"C2931296; MONDO:0010802","Xref__c":"722206009"},{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A0111733","Source__c":"MONDO:0010802","Xref__c":"DOID:0111733"},{"URL__c":"https://www.omim.org/entry/600001","Source__c":"C2931296; MONDO:0010802; ORPHA:2255","Xref__c":"OMIM:600001"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C2931296","Source__c":"C2931296","Xref__c":"C2931296"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=444022","Source__c":"C2931296","Xref__c":"MEDGEN:444022"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0010802","Source__c":"GARD:0000347","Xref__c":"MONDO:0010802"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"GATA6","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["Autosomal dominant"],"GARD_Disease_Feature__c":[{"Provided_By__c":"ORPHA:2255","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A type of hypothyroidism with congenital onset.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000851","HPO_Synonym__c":"Hypothyroidism, congenital; Underactive thyroid gland from birth","HPO_Name__c":"Congenital hypothyroidism","Feature_System__c":"Endocrine System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2255","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A congenital defect of heart development characterized by origin of both pulmonary artery and aorta from the morphological left ventricle.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0011581","HPO_Name__c":"Double outlet left ventricle","Feature_System__c":"Cardiovascular System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2255","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Failure of the foramen ovale to seal postnatally, leaving a potential conduit between the left and right cardiac atria.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001655","HPO_Synonym__c":"Persistent foramen ovale; PFO","HPO_Name__c":"Patent foramen ovale","Feature_System__c":"Cardiovascular System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2255","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Respiratory distress is objectively observable as the physical or emotional consequences from the experience of dyspnea. The physical presentation of respiratory distress is generally referred to as labored breathing, while the sensation of respiratory distress is called shortness of breath or dyspnea.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002098","HPO_Synonym__c":"Breathing difficulties; Labored breathing; Respiratory difficulties","HPO_Name__c":"Respiratory distress","Feature_System__c":"Respiratory system","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2255","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Underdevelopment or reduced size of the heart right ventricle, often due to a reduced number of cells.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0004762","HPO_Synonym__c":"Heart right ventricle hypoplasia; Small right heart chamber; Underdeveloped right heart chamber","HPO_Name__c":"Hypoplasia of right ventricle","Feature_System__c":"Cardiovascular System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2255","HPO_Frequency__c":"Uncommon (<1-4%)","Feature__r":{"HPO_Description__c":"A developmental defect of the pericardium with congenital onset.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0011628","HPO_Name__c":"Congenital defect of the pericardium","Feature_System__c":"Cardiovascular System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2255","HPO_Frequency__c":"Uncommon (<1-4%)","Feature__r":{"HPO_Description__c":"A developmental anomaly characterized by the presence of two, instead of one, ureter connecting a kidney to the bladder.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000073","HPO_Synonym__c":"Double ureter","HPO_Name__c":"Ureteral duplication","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2255","HPO_Frequency__c":"Uncommon (<1-4%)","Feature__r":{"HPO_Description__c":"Absence or underdevelopment of the gallbladder.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0011466","HPO_Synonym__c":"Absent/small gallbladder; Absent/underdeveloped gallbladder","HPO_Name__c":"Aplasia/Hypoplasia of the gallbladder","Feature_System__c":"Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2255","HPO_Frequency__c":"Uncommon (<1-4%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000891","HPO_Name__c":"Cervical ribs","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2255","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Failure to thrive (FTT) refers to a child whose physical growth is substantially below the norm.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001508","HPO_Synonym__c":"Faltering weight; FTT; Postnatal failure to thrive; Weight faltering","HPO_Name__c":"Failure to thrive","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2255","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Smaller than normal size according to sex and gestational age related norms, defined as a weight below the 10th percentile for the gestational age.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001518","HPO_Synonym__c":"Birth weight less than 10th percentile; Low birth weight; Small for gestational age","HPO_Name__c":"Small for gestational age","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2255","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"An abnormal narrowing or constriction of the pulmonary artery, in the main pulmonary artery and/or in the left or right pulmonary artery branches.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0004415","HPO_Synonym__c":"Narrowing of lung artery","HPO_Name__c":"Pulmonary artery stenosis","Feature_System__c":"Cardiovascular System; Respiratory system","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2255","HPO_Frequency__c":"Occasional (5-29%)","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:2255","HPO_Frequency__c":"Uncommon (<1-4%)","Feature__r":{"HPO_Description__c":"The presence of a hernia of the diaphragm present at birth.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000776","HPO_Synonym__c":"Diaphragmatic hernia","HPO_Name__c":"Congenital diaphragmatic hernia","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2255","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Impaired ability to eat related to problems gathering food and getting ready to suck, chew, or swallow it.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0011968","HPO_Synonym__c":"Decreased oral intake; Feeding difficulties; Feeding problems; Poor feeding","HPO_Name__c":"Feeding difficulties","Feature_System__c":"Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2255","HPO_Frequency__c":"Uncommon (<1-4%)","Feature__r":{"HPO_Description__c":"An abnormality of the intestinal rotation and fixation that normally occurs during the development of the gut. This can lead to volvulus, or twisting of the intestine that causes obstruction and necrosis.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002566","HPO_Synonym__c":"Malrotation","HPO_Name__c":"Intestinal malrotation","Feature_System__c":"Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2255","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A complex congenital heart defect in which the aorta arises from the morphologic right ventricle and the pulmonary artery arises from the morphologic left ventricle.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001669","HPO_Synonym__c":"TGA; TGV; Transposition of great vessels","HPO_Name__c":"Transposition of the great arteries","Feature_System__c":"Cardiovascular System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2255","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0100790","HPO_Name__c":"Hernia","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2255","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A congenital cardiac malformation comprising pulmonary stenosis, overriding aorta, ventricular septum defect, and right ventricular hypertrophy. The diagnosis of TOF is made if at least three of the four above mentioned features are present.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001636","HPO_Synonym__c":"Tetrology of fallot","HPO_Name__c":"Tetralogy of Fallot","Feature_System__c":"Cardiovascular System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2255","HPO_Frequency__c":"Uncommon (<1-4%)","Feature__r":{"HPO_Description__c":"Atresia of the biliary tree.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0005912","HPO_Synonym__c":"Atresia of bile ducts; Biliary duct atresia","HPO_Name__c":"Biliary atresia","Feature_System__c":"Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2255","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:2255","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:2255","HPO_Frequency__c":"Occasional (5-29%)","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:2255","HPO_Frequency__c":"Uncommon (<1-4%)","Feature__r":{"HPO_Description__c":"Single umbilical artery (SUA) is the absence of one of the two umbilical arteries surrounding the fetal bladder and in the fetal umbilical cord.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001195","HPO_Synonym__c":"2 vessel cord; 2 vessel umbilical cord; Only one artery in umbilical cord instead of two; SUA; Two vessel cord; Two vessel umbilical cord; Two-vessel cord","HPO_Name__c":"Single umbilical artery","Feature_System__c":"Cardiovascular System","HPO_Feature_Type__c":"Imaging_Ultrasound_Fetal; Imaging_Echocardiogram"}},{"Provided_By__c":"ORPHA:2255","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Congenital defect characterized by underdevelopment of the tricuspid valve.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0011573","HPO_Synonym__c":"Tricuspid valve hypoplasia; Underdeveloped tricuspid valve","HPO_Name__c":"Hypoplastic tricuspid valve","Feature_System__c":"Cardiovascular System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2255","HPO_Frequency__c":"Uncommon (<1-4%)","Feature__r":{"HPO_Description__c":"Decreased occipito-frontal (head) circumference (OFC). For the microcephaly OFC must be between -3 SD and -2 SD compared to appropriate, age matched, normal standards (i.e. -3 SD <= OFC < -2 SD).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0040196","HPO_Name__c":"Mild microcephaly","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2255","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Impaired function of the exocrine pancreas associated with a reduced ability to digest foods because of lack of digestive enzymes.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001738","HPO_Synonym__c":"Inability to properly digest food due to lack of pancreatic digestive enzymes","HPO_Name__c":"Exocrine pancreatic insufficiency","Feature_System__c":"Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2255","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:2255","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"The term intellectual disability or intellectual developmental disorder is used to describe significantly sub-average intellectual and adaptive functioning based on clinical assessment and as measured by individually administered, appropriately normed, standardized and validated tests of intellectual functioning and adaptive behavior, with onset during the developmental period from infancy through adolescence.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001249","HPO_Synonym__c":"Intellectual disability; Mental deficiency; Mental retardation; Mental retardation, nonspecific; Mental-retardation; Nonprogressive intellectual disability; Nonprogressive mental retardation","HPO_Name__c":"Intellectual disability","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2255","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Increased time to coagulation in the partial thromboplastin time (PTT) test, a measure of the intrinsic and common coagulation pathways. Phospholipid, and activator, and calcium are mixed into an anticoagulated plasma sample, and the time is measured until a thrombus forms.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003645","HPO_Synonym__c":"Abnormal partial thromboplastin time; Delayed thromboplastin generation; Partial thromboplastin time prolonged; Prolonged activated partial thromboplastin time; Prolonged PTT","HPO_Name__c":"Prolonged partial thromboplastin time","Feature_System__c":"Blood and Blood-Forming Tissue","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2255","HPO_Frequency__c":"Uncommon (<1-4%)","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:2255","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Muscular hypotonia (abnormally low muscle tone) manifesting in the neonatal period.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001319","HPO_Synonym__c":"Hypotonia, in neonatal onset; Hypotonia, neonatal; Low muscle tone, in neonatal onset","HPO_Name__c":"Neonatal hypotonia","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2255","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A narrowing of the right ventricular outflow tract that can occur at the pulmonary valve (valvular stenosis), below the pulmonary valve (infundibular stenosis), or above the pulmonary valve (supravalvar stenosis).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001642","HPO_Synonym__c":"Narrowing of pulmonic valve; Pulmonary stenosis; Pulmonary valve stenosis; Pulmonic valve stenosis","HPO_Name__c":"Pulmonic stenosis","Feature_System__c":"Cardiovascular System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2255","HPO_Frequency__c":"Uncommon (<1-4%)","Feature__r":{"HPO_Description__c":"Absence of the anterior pituitary gland resulting from a developmental defect.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0010626","HPO_Synonym__c":"Absent pituitary gland; Aplasia of the pituitary gland","HPO_Name__c":"Anterior pituitary agenesis","Feature_System__c":"Nervous System; Endocrine System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2255","HPO_Frequency__c":"Uncommon (<1-4%)","Feature__r":{"HPO_Description__c":"Non-continuity of the arch of aorta with an atretic point or absent segment.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0011611","HPO_Synonym__c":"Atretic transverse aortic arch","HPO_Name__c":"Interrupted aortic arch","Feature_System__c":"Cardiovascular System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2255","HPO_Frequency__c":"Very frequent (80-99%)","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":"ORPHA:2255","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Aplasia of the pancreas.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0100801","HPO_Synonym__c":"Absent pancreas","HPO_Name__c":"Pancreatic aplasia","Feature_System__c":"Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2255","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Hypoplasia of the pancreas.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002594","HPO_Synonym__c":"Hypoplastic pancreas; Underdeveloped pancreas","HPO_Name__c":"Pancreatic hypoplasia","Feature_System__c":"Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2255","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Repeated episodes of diarrhea separated by periods without diarrhea.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002254","HPO_Synonym__c":"Episodic diarrhea","HPO_Name__c":"Intermittent diarrhea","Feature_System__c":"Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2255","HPO_Frequency__c":"Frequent (30-79%)","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"}}],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics","Neurology","Endocrine"],"Specialist":["Genetics","Neurology","Endocrine","Neurodevelopmental disabilities","Pediatrics"]},"synonyms":["heart defects, congenital, and other congenital anomalies"," pancreatic hypoplasia, congenital, with diabetes mellitus and congenital heart disease"," pancreatic hypoplasia, diabetes mellitus, congenital heart disease syndrome"," yorifuji okuno syndrome"," yorifuji-okuno syndrome"]}