{"Name":"Paternal uniparental disomy of chromosome 14","DiseaseID__c":"GARD:0005409","id":5409,"encodedName":"paternal-uniparental-disomy-of-chromosome-14","IsDeleted":false,"Disease_Name_Full__c":"Paternal uniparental disomy of chromosome 14","Xref_IDs__c":"C536471; C5680251; MEDGEN:1843450; MONDO:0011975; ORPHA:96334","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":1,"Disease_Characteristics_Score__c":7,"No_of_Age_at_Onset__c":2,"Description_Source__c":"ORPHA:96334","Disease_Description__c":"A rare genetic disease with characteristics of polyhydramnios (mostly due to placentomegaly), fetal macrosomia, abdominal wall defects, skeletal abnormalities (including bell-shaped thorax, coat-hanger appearance of the ribs and decreased mid to wide thorax diameter ratio in infancy), feeding difficulties and impaired swallowing, dysmorphic features (hairy forehead, full cheeks, protruding philtrum, micrognathia), developmental delay and intellectual disability. Additional features may include kyphoscoliosis, joint contractures, diastasis recti, and muscular hypotonia. There is increased risk of hepatoblastoma. The syndrome is an imprinting disorder involving genes within the imprinted region of chromosome 14q32.","GARD_Name__c":"Paternal uniparental disomy of chromosome 14","GARD_Synonym__c":"kagami-ogata syndrome due to paternal uniparental disomy of chromosome 14; paternal uniparental disomy of chromosome type 14; upd(14)pat; upd14, paternal","Curated_Disease_Description_Source__c":"ORPHA:96334","Curated_Disease_Description__c":"Kagami-Ogata syndrome is characterized by developmental delay, intellectual disability, feeding difficulty with impaired swallowing, full cheeks, prominent and deep philtrum, small bell-shaped thorax with coat-hanger appearance of the ribs, and abdominal wall defects (omphalocele and diastasis recti). Additional common features include joint contractures, kyphoscoliosis, coxa valga, and laryngomalacia. Cardiac disease and hepatoblastoma have also been reported.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"1,000","Age_at_Onset_Snippet_Text__c":"as a Newborn and as an Infant","SourceID__c":"ORPHA:96334","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0011975","ORPHANET_ID__c":"ORPHA:96334","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Síndrome de kagami-ogata por disomía uniparental paterna del cromosoma 14","Spanish_Description_Source__c":null,"Spanish_Description__c":null,"Spanish_Disease_Name__c":"síndrome de kagami-ogata por disomía uniparental paterna del cromosoma 14","Spanish_GARD_Synonym__c":"upd(14)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":"Kagami-Ogata syndrome is characterized by developmental delay, intellectual disability, feeding difficulty with impaired swallowing, full cheeks, prominent and deep philtrum, small bell-shaped thorax with coat-hanger appearance of the ribs, and abdominal wall defects (omphalocele and diastasis recti). Additional common features include joint contractures, kyphoscoliosis, coxa valga, and laryngomalacia. Cardiac disease and hepatoblastoma have also been reported.","Curated_Disease_Description_Source__c":"ORPHA:96334","GARD_Synonym__c":"kagami-ogata syndrome due to paternal uniparental disomy of chromosome 14; paternal uniparental disomy of chromosome type 14; upd(14)pat; upd14, paternal","Name":"Paternal uniparental disomy of chromosome 14","Curated_USA_Estimate__c":"1,000","estimateUsa":"1,000"}],"Organization_Supported_Diseases__c":[{"Account_Name__c":"Unique","Website__c":"https://rarechromo.org/"},{"Account_Name__c":"Chromosome Disorder Outreach","Website__c":"https://chromodisorder.org/"},{"Account_Name__c":"Ring14 USA","Website__c":"https://ring14usa.com/"}],"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":"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":"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":"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":"Neonatal","Provided_By__c":"ORPHA:96334"},{"Age_At_Onset__c":"Infancy","Provided_By__c":"ORPHA:96334"}],"Diagnosis__c":[{"Type__c":"GTR","Curie__c":"MEDGEN:C1842466"}],"External_Identifier_Disease__c":[{"URL__c":"https://raresource.nih.gov/diseases/filter/0005409","Source__c":"RareSource"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=1843450","Source__c":"C5680251","Xref__c":"MEDGEN:1843450"},{"URL__c":"https://www.orpha.net/en/disease/detail/96334","Source__c":"C5680251; MONDO:0011975; ORPHA:96334","Xref__c":"ORPHA:96334"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C5680251","Source__c":"C5680251","Xref__c":"C5680251"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C536471","Source__c":"MONDO:0011975","Xref__c":"C536471"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0011975","Source__c":"GARD:0005409","Xref__c":"MONDO:0011975"},{"URL__c":"https://www.ncbi.nlm.nih.gov/books/NBK608430","Source__c":"Gene Review","Xref__c":"NBK608430"}],"GARD_Disease_Feature__c":[{"Provided_By__c":"ORPHA:96334","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Underdevelopment of the nipple.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002557","HPO_Synonym__c":"Nipple hypoplasia; Small nipples","HPO_Name__c":"Hypoplastic nipples","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:96334","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"}},{"Provided_By__c":"ORPHA:96334","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Any anomaly of the costochondral junction. The costochondral junctions are located between the distal part of the ribs and the costal cartilages, which are bars of hyaline cartilage that connect the ribs to the sternum.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000919","HPO_Synonym__c":"Costochondral juctions abnormal","HPO_Name__c":"Abnormality of the costochondral junction","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:96334","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Triangular appearance of the oral aperture with the apex in the midpoint of the upper vermilion and the lower vermilion forming the base.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0010804","HPO_Synonym__c":"Inverted V-shaped upper lip","HPO_Name__c":"Tented upper lip vermilion","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:96334","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Diminished length of the neck.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000470","HPO_Synonym__c":"Decreased length of neck; Short neck","HPO_Name__c":"Short neck","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:96334","HPO_Frequency__c":"Frequent (30-79%)","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:96334","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"H-shaped crease in the fat pad of the chin.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0011824","HPO_Synonym__c":"Chin with H-shaped crease; Chin, H-Shaped Crease; Chin, H-shaped groove; H-shaped dimple of the chin","HPO_Name__c":"Chin with H-shaped crease","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:96334","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Increased width of the skin of vermilion border region of upper lip.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0012471","HPO_Synonym__c":"Full lips; Increased volume of lip; Increased volume of lip vermillion; Plump lips; Prominent lips; Thick lips","HPO_Name__c":"Thick vermilion border","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:96334","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Increased length of the clavicles.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000890","HPO_Synonym__c":"Elongated clavicles; Long collarbone","HPO_Name__c":"Long clavicles","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:96334","HPO_Frequency__c":"Frequent (30-79%)","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:96334","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Distance between nasal base and midline upper lip vermilion border more than 2 SD above the mean. Alternatively, an apparently increased distance between nasal base and midline upper lip vermilion border.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000343","HPO_Synonym__c":"Elongated philtrum; Increased height of philtrum; Increased length of philtrum; Increased vertical dimension of philtrum; Vertical hyperplasia of philtrum","HPO_Name__c":"Long philtrum","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:96334","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Underdevelopment of the ilium ala.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002866","HPO_Synonym__c":"Hypoplastic iliac alae; Hypoplastic iliac wings; Small iliac wings","HPO_Name__c":"Hypoplastic iliac wing","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:96334","HPO_Frequency__c":"Occasional (5-29%)","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:96334","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Increased bone density of the skull base without significant changes in bony contour.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002694","HPO_Synonym__c":"Dense bone of skull base; Hyperossification of skull base; Hyperostosis of skull base; Marked sclerosis of skull base; Sclerosis of cranial base; Sclerosis of the skull base; Sclerotic skull base","HPO_Name__c":"Sclerosis of skull base","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:96334","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A type of abnormal location of the ears in which the position of the ears is characterized by posterior rotation (the superior part of the ears is rotated towards the back of the head, and the inferior part of the ears towards the front).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000358","HPO_Synonym__c":"Ear, posterior angulation, increased; Ears rotated toward back of head; Posteriorly angulated ears; Posteriorly rotated; Posteriorly rotated auricles; Posteriorly-angulated ears; Posteriorly-rotated ears","HPO_Name__c":"Posteriorly rotated ears","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:96334","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Reduced rib length.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000773","HPO_Synonym__c":"Hypoplastic ribs; Rib hypoplasia; Short ribs","HPO_Name__c":"Short ribs","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:96334","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"The term large for gestational age applies to babies whose birth weight lies above the 90th percentile for that gestational age.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001520","HPO_Synonym__c":"Birth weight > 90th percentile; Birthweight > 90th percentile; Fetal macrosomia; Macrosomia; Macrosomia, neonatal","HPO_Name__c":"Large for gestational age","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:96334","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"The presence of extra bones within a cranial suture. Wormian bones are irregular isolated bones which appear in addition to the usual centers of ossification of the cranium.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002645","HPO_Synonym__c":"Extra bones within cranial sutures; Intra sutural bones; Intrasutural bones; Islands of bone within cranial sutures","HPO_Name__c":"Wormian bones","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:96334","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Abnormally small dimension of the Maxilla. Usually creating a malocclusion or malalignment between the upper and lower teeth or resulting in a deficient amount of projection of the base of the nose and lower midface region.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000327","HPO_Synonym__c":"Decreased size of maxilla; Decreased size of upper jaw; Hypoplasia of upper jaw bones; Hypoplastic maxillary bones; Maxillary deficiency; Maxillary hypoplasia; Maxillary micrognathia; Maxillary retrognathia; Maxillary retrusion; Micromaxilla; Small maxilla; Small upper jaw; Small upper jaw bones; Upper jaw deficiency; Upper jaw retrusion","HPO_Name__c":"Hypoplasia of the maxilla","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:96334","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Bilateral bulging of the lateral frontal bone prominences with relative sparing of the midline.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002007","HPO_Synonym__c":"Frontal protuberance; Skull bossing","HPO_Name__c":"Frontal bossing","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:96334","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Enlargement of the anterior fontanelle with respect to age-dependent norms.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000260","HPO_Synonym__c":"Large anterior fontanel; Large anterior fontanelle; Large open anterior fontanel; Large open anterior fontanelle; Wide anterior fontanelle; Wide open anterior fontanelle; Wider-than-typical soft spot of skull","HPO_Name__c":"Wide anterior fontanel","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:96334","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Accentuated, prominent philtral ridges giving rise to an exaggerated groove in the midline between the nasal base and upper vermillion border.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002002","HPO_Synonym__c":"Increased depth of philtrum; Philtrum, deep; Prominent philtrum; Pronounced philtrum","HPO_Name__c":"Deep philtrum","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:96334","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"The distal interphalangeal joint and/or the proximal interphalangeal joint of the fingers or toes cannot be extended to 180 degrees by either active or passive extension.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0012385","HPO_Synonym__c":"Permanent flexion of the finger or toe","HPO_Name__c":"Camptodactyly","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:96334","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A functional defect characterized by reduced total lung capacity (TLC) not associated with abnormalities of expiratory airflow or airway resistance. Spirometrically, a restrictive defect is defined as FEV1 (forced expiratory volume in 1 second) and FVC (forced vital capacity) less than 80 per cent. Restrictive lung disease may be caused by alterations in lung parenchyma or because of a disease of the pleura, chest wall, or neuromuscular apparatus.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002091","HPO_Synonym__c":"Restrictive deficit on pulmonary function testing; Restrictive deficit on pulmonary function tests; Restrictive respiratory disease; Restrictive respiratory insufficiency; Restrictive respiratory syndrome; Spirometric restriction; Stiff lung or chest wall causing decreased lung volume","HPO_Name__c":"Restrictive ventilatory defect","Feature_System__c":"Respiratory system","HPO_Feature_Type__c":"Procedure_PFT"}},{"Provided_By__c":"ORPHA:96334","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Increased breadth of the nasal bridge (and with it, the nasal root).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000431","HPO_Synonym__c":"Broad nasal bridge; Broad nasal root; Broadened nasal bridge; Increased breadth of bridge of nose; Increased breadth of nasal bridge; Increased width of bridge of nose; Increased width of nasal bridge; Nasal bridge broad; Nasal bridge, wide; Wide bridge of nose; Wide nasal bridge; Widened nasal bridge","HPO_Name__c":"Wide nasal bridge","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:96334","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Forward protrusion of the glabella.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002057","HPO_Synonym__c":"Convex glabella; Hyperplasia of glabella; Prominent area between the eyebrows; Protruding area between the eyebrows","HPO_Name__c":"Prominent glabella","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:96334","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Habitual flow of saliva out of the mouth.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002307","HPO_Synonym__c":"Dribbling; Drooling; Sialorrhea","HPO_Name__c":"Drooling","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:96334","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"The birth of a baby of less than 37 weeks of gestational age.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001622","HPO_Synonym__c":"Premature birth; Premature delivery; Premature delivery of affected infants; Preterm birth; Preterm delivery; Shortened gestation time","HPO_Name__c":"Premature birth","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:96334","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:96334","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Anteriorly-facing nostrils viewed with the head in the Frankfurt horizontal and the eyes of the observer level with the eyes of the subject. This gives the appearance of an upturned nose (upturned nasal tip).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000463","HPO_Synonym__c":"Anteverted nose; Anteverted nostrils; Nasal tip, upturned; Nostrils anteverted; Upturned nares; Upturned nasal tip; Upturned nose; Upturned nostrils","HPO_Name__c":"Anteverted nares","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:96334","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Underdevelopment (reduced size) of the tibia.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0005736","HPO_Synonym__c":"Hypoplasia of the tibia; Hypoplastic tibia; Short shinbone; Short skankbone; Short tibiae; Shortening of the shankbone; Shortening of the shinbone; Shortening of the tibia","HPO_Name__c":"Short tibia","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:96334","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001615","HPO_Synonym__c":"Hoarse cry","HPO_Name__c":"Hoarse cry","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:96334","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Protruding heel bone, or calcaneus.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0012428","HPO_Synonym__c":"Prominent heel bone","HPO_Name__c":"Prominent calcaneus","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:96334","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002089","HPO_Synonym__c":"Hypoplastic lung; Hypoplastic lungs; Lung hypoplasia; Poorly developed lungs; Small lung; Underdeveloped lung","HPO_Name__c":"Pulmonary hypoplasia","Feature_System__c":"Respiratory system","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:96334","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000884","HPO_Synonym__c":"Prominent sternum; Sternal protrusion","HPO_Name__c":"Prominent sternum","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:96334","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Increased size of the placenta.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0006267","HPO_Synonym__c":"Large placenta; Placental enlargement","HPO_Name__c":"Large placenta","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:96334","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003049","HPO_Synonym__c":"Ulnar deviation of wrists","HPO_Name__c":"Ulnar deviation of the wrist","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:96334","HPO_Frequency__c":"Occasional (5-29%)","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:96334","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":"ORPHA:96334","HPO_Frequency__c":"Very frequent (80-99%)","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:96334","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Head circumference below 2 standard deviations below the mean for age and sex.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000252","HPO_Synonym__c":"Abnormally small cranium; Abnormally small skull; Decreased circumference of cranium; Decreased size of cranium; Decreased size of skull; Reduced head circumference; small cranium; Small head circumference","HPO_Name__c":"Microcephaly","Feature_System__c":"Nervous System; Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:96334","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"An abnormally wavy surface or edge of the ribs.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0010561","HPO_Synonym__c":"Wavy ribs","HPO_Name__c":"Undulate ribs","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:96334","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:96334","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Incomplete peripheral vascular development.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0007685","HPO_Synonym__c":"Peripheral avascular retina","HPO_Name__c":"Avascular peripheral retina","Feature_System__c":"Cardiovascular System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:96334","HPO_Frequency__c":"Occasional (5-29%)","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:96334","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A kind of neoplasm of the liver that originates from immature liver precursor cells and macroscopically is composed of tissue resembling fetal or mature liver cells or bile ducts.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002884","HPO_Name__c":"Hepatoblastoma","Feature_System__c":"Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:96334","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Posterior positioning of the nasal root in relation to the overall facial profile for age.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0005280","HPO_Synonym__c":"Depressed bridge of nose; Depressed nasal bridge; Depressed nasal root; Flat bridge of nose; Flat nasal bridge; Flat nasal root; Flat, nasal bridge; Flattened nasal bridge; Low nasal bridge; Low nasal root; Retruded bridge of nose; Retruded nasal bridge","HPO_Name__c":"Depressed nasal bridge","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:96334","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Asymmetric head shape, which is usually a combination of unilateral occipital flattening with ipsilateral frontal prominence, leading to rhomboid cranial shape.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001357","HPO_Synonym__c":"Flat head syndrome; Flattening of cranial vault; Flattening of cranium; Flattening of skull; Rhomboid shaped cranium; Rhomboid shaped skull","HPO_Name__c":"Plagiocephaly","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:96334","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A larger than usual distance between the left and right nipple.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0006610","HPO_Synonym__c":"Wide-spaced nipples; Widely spaced nipples; Widely-spaced nipples","HPO_Name__c":"Wide intermamillary distance","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:96334","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Laryngomalacia is a congenital abnormality of the laryngeal cartilage in which the cartilage is floppy and prolapses over the larynx during inspiration.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001601","HPO_Synonym__c":"Softening of voice box tissue","HPO_Name__c":"Laryngomalacia","Feature_System__c":"Respiratory system","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:96334","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Arm shortening because of underdevelopment of one or more bones of the upper extremity.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0009824","HPO_Synonym__c":"Hypoplasia involving bones of the upper limbs; Short arms; Shortening of the arms; Upper limb undergrowth","HPO_Name__c":"Upper limb undergrowth","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:96334","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Interalar distance more than two standard deviations above the mean for age, i.e., an apparently increased width of the nasal base and alae.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000445","HPO_Synonym__c":"Broad nose; Increased breadth of nose; Increased nasal breadth; Increased nasal width; Increased width of nose; Wide nose","HPO_Name__c":"Wide nose","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:96334","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Distance between the medial and lateral canthi is more than 2 SD below the mean for age (objective); or, apparently reduced length of the palpebral fissures.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0012745","HPO_Synonym__c":"Decreased height of palpebral fissure; Short opening between the eyelids; Short palpebral fissures","HPO_Name__c":"Short palpebral fissure","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:96334","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Excess skin around the neck, often lying in horizontal folds.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0005989","HPO_Synonym__c":"Excess neck skin; Excess skin over the neck; Excessive nuchal skin; Redundant neck skin; Redundant nuchal skin; Redundant skin folds of neck; Redundant skin over the neck","HPO_Name__c":"Redundant neck skin","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:96334","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Bony outgrowths that extend laterally from the margin of the metaphysis.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0005054","HPO_Name__c":"Metaphyseal spurs","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:96334","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A moderate delay in the achievement of motor or mental milestones in the domains of development of a child.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0011343","HPO_Synonym__c":"Global developmental delay, moderate","HPO_Name__c":"Moderate global developmental delay","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:96334","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Wide, concave anterior rib end.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000907","HPO_Synonym__c":"Anterior cupping of ribs; Anteriorly splayed ribs","HPO_Name__c":"Anterior rib cupping","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:96334","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0005257","HPO_Synonym__c":"Small chest; Small thorax","HPO_Name__c":"Thoracic hypoplasia","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:96334","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Underdevelopment of the ilium.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000946","HPO_Synonym__c":"Short and small iliac bones; Small iliac bones","HPO_Name__c":"Hypoplastic ilia","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:96334","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A fixed reduction in the vertical distance between the upper and lower eyelids with short palpebral fissures.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000581","HPO_Synonym__c":"Decreased width of palpebral fissure; Narrow opening between the eyelids","HPO_Name__c":"Blepharophimosis","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:96334","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"In the resting position, the tip of the thumb is on, or near, the palm, close to the base of the fourth or fifth finger.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001181","HPO_Synonym__c":"Adducted thumbs; Inward turned thumb; Thumb-in-palm deformity; Thumb-in-palm pattern","HPO_Name__c":"Adducted thumb","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:96334","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"A separation of the rectus abdominis muscle into right and left halves (which are normally joined at the midline at the linea alba).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001540","HPO_Synonym__c":"Gap between large left and right abdominal muscles","HPO_Name__c":"Diastasis recti","Feature_System__c":"Musculoskeletal System; Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:96334","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Excessive amount of hair growth on forehead.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0011335","HPO_Synonym__c":"Hairy forehead; Hirsute forehead","HPO_Name__c":"Frontal hirsutism","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:96334","HPO_Frequency__c":"Frequent (30-79%)","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:96334","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Horizontal crease or fold situated below the vermilion border of the lower lip and above the fatty pad of the chin, with the face at rest.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0011823","HPO_Synonym__c":"Chin with horizontal crease; Chin with horizontal furrow; Chin with horizontal groove; Chin with horizontal sulcus; Horizontal chin skin cleft; Horizontal menton crease","HPO_Name__c":"Chin with horizontal crease","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:96334","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Underdevelopment of part or all of the external reproductive organs.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003241","HPO_Synonym__c":"Hypogenitalism; Small genitalia; Underdevelopment of external reproductive organs","HPO_Name__c":"External genital hypoplasia","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:96334","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:96334","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Simultaneous enlargement of the liver and spleen.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001433","HPO_Synonym__c":"Enlarged liver and spleen","HPO_Name__c":"Hepatosplenomegaly","Feature_System__c":"Cardiovascular System; Immune System; Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:96334","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A severe delay in the achievement of motor or mental milestones in the domains of development of a child.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0011344","HPO_Synonym__c":"Global developmental delay, severe","HPO_Name__c":"Severe global developmental delay","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:96334","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Distance between the commissures of the mouth more than 2 SD below the mean. Alternatively, an apparently decreased width of the oral aperture (subjective).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000160","HPO_Synonym__c":"Microstomia; Narrow mouth; Small mouth; Small oral aperture","HPO_Name__c":"Narrow mouth","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:96334","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"The metatarsals are deviated medially (tibially), that is, the bones in the front half of the foot bend or turn in toward the body.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001840","HPO_Synonym__c":"Forefoot varus; Front half of foot turns inward; Metatarsus adductovarsus; Metatarsus varus; Sickle foot; Sickled feet","HPO_Name__c":"Metatarsus adductus","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:96334","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Abnormally wide (broad) distal phalanx of finger.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0009836","HPO_Synonym__c":"Broad distal phalanges; Broad distal phalanges of the hand; Broad distal phalanx; Broad outermost finger bone; Broad terminal phalanges; Broad, square ends of distal phalanges; Spatulate terminal phalanges","HPO_Name__c":"Broad distal phalanx of finger","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:96334","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A nail that is diminished in length and width, i.e., underdeveloped nail.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001792","HPO_Synonym__c":"Hypoplastic nail; Hypoplastic nails; Nail hypoplasia; Small nail; Small nails","HPO_Name__c":"Small nail","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:96334","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Underdevelopment of the external ear.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0008551","HPO_Synonym__c":"Bilateral microtia; Hypoplasia of the external ear; Hypoplastic ears; Hypoplastic pinna; Small ears; Small pinnae; Underdeveloped ears","HPO_Name__c":"Microtia","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:96334","HPO_Frequency__c":"Uncommon (<1-4%)","Feature__r":{"HPO_Description__c":"Excessive postnatal growth which may comprise increased weight, increased length, and/or increased head circumference.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001548","HPO_Synonym__c":"General overgrowth","HPO_Name__c":"Overgrowth","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:96334","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Feeding problem necessitating gastrostomy tube feeding.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0011471","HPO_Name__c":"Gastrostomy tube feeding in infancy","Feature_System__c":"Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:96334","HPO_Frequency__c":"Uncommon (<1-4%)","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:96334","HPO_Frequency__c":"Occasional (5-29%)","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":"ORPHA:96334","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"A deficiency or slowing down of growth pre- and postnatally.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001510","HPO_Synonym__c":"Delayed growth; Growth deficiency; Growth delay; Growth failure; Growth retardation; Poor growth; Retarded growth","HPO_Name__c":"Growth delay","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:96334","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A spectrum of malformations of cortical development caused by insufficient neuronal migration that subsumes the terms agyria, pachygyria and subcortical band heterotopia. See also neuropathological definitions for 2-, 3-, and 4-layered lissencephaly.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001339","HPO_Synonym__c":"Fewer or absent grooves in brain","HPO_Name__c":"Lissencephaly","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:96334","HPO_Frequency__c":"Frequent (30-79%)","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":"ORPHA:96334","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Underdeveloped scapula.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000882","HPO_Synonym__c":"Hypoplastic scapula; Scapular hypoplasia; Short scapulae; Small scapula; Small scapulae; Small shoulder blade","HPO_Name__c":"Hypoplastic scapulae","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:96334","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"An eye that is more deeply recessed into the plane of the face than is typical.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000490","HPO_Synonym__c":"Deep set eye; Deep-set eyes; Deeply set eye; Enophthalmos; Ocular depression; Sunken eye; Sunken eyes","HPO_Name__c":"Deeply set eye","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:96334","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Chronic loss of joint motion in an interphalangeal joint of a finger due to structural changes in non-bony tissue.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001220","HPO_Synonym__c":"Interphalangeal joint flexion contractures","HPO_Name__c":"Interphalangeal joint contracture of finger","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:96334","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"A severe form of respiratory insufficiency characterized by inadequate gas exchange such that the levels of oxygen or carbon dioxide cannot be maintained within normal limits.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002878","HPO_Synonym__c":"Respiratory failure","HPO_Name__c":"Respiratory failure","Feature_System__c":"Respiratory system","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:96334","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Distance between nasal base and midline upper lip vermilion border more than 2 SD below the mean. Alternatively, an apparently decreased distance between nasal base and midline upper lip vermilion border.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000322","HPO_Synonym__c":"Decreased height of philtrum; Decreased length of philtrum; Decreased vertical dimension of philtrum; Vertical hypoplasia of philtrum","HPO_Name__c":"Short philtrum","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:96334","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Absence of one half of the vertebral body.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002937","HPO_Synonym__c":"Hemi-vertebrae; Hemivertebra; Missing part of vertebrae","HPO_Name__c":"Hemivertebrae","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:96334","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"An abnormality of the skeletal system.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000924","HPO_Synonym__c":"Abnormality of the skeletal system; Skeletal abnormalities; Skeletal anomalies","HPO_Name__c":"Abnormality of the skeletal system","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:96334","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Any anomaly of distal phalanx of finger.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0009832","HPO_Synonym__c":"Abnormal terminal phalanges of the hand; Abnormality of the distal phalanges of the hand; Abnormality of the distal phalanx of finger; Abnormality of the outermost finger bone","HPO_Name__c":"Abnormal distal phalanx morphology of finger","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:96334","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":"ORPHA:96334","HPO_Frequency__c":"Always (100%)","Feature__r":{"HPO_Description__c":"An abnormal morphology of the ribs consisting of shorted, abnormally curved ribs. On posteroanterior chest radiography, the ribs show a curvature resembling that of a coat hanger (clothes hanger).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0006665","HPO_Synonym__c":"Coat hanger sign of ribs","HPO_Name__c":"Coat hanger sign of ribs","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:96334","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A midline anterior incomplete closure of the abdominal wall in which there is herniation of the abdominal viscera into the base of the abdominal cord.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001539","HPO_Synonym__c":"Exomphalos; Omphalocoele","HPO_Name__c":"Omphalocele","Feature_System__c":"Musculoskeletal System; Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:96334","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:96334","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Wrinkled, redundant, inelastic and sagging skin.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000973","HPO_Synonym__c":"Chalazoderma; Cutaneous laxity; Dermatochalasia; Dermatomegaly; Elastolysis; Generalized elastolysis; Hypoelastic skin; Inelastic skin; Lax skin; Loose and inelastic skin; Loose skin; Skin laxity","HPO_Name__c":"Cutis laxa","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:96334","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Hypertrophic cardiomyopathy (HCM) is defined by the presence of increased ventricular wall thickness or mass in the absence of loading conditions (hypertension, valve disease) sufficient to cause the observed abnormality.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001639","HPO_Synonym__c":"Cardiomyopathy, hypertrophic; Enlarged and thickened heart muscle; HCM","HPO_Name__c":"Hypertrophic cardiomyopathy","Feature_System__c":"Cardiovascular System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:96334","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0040024","HPO_Name__c":"Clinodactyly of the 3rd finger","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:96334","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Lack of development of the glenoid fossa, also known as the glenoid cavity, which is the articular surface of the scapula that articulates with the head of the humerus.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0006591","HPO_Synonym__c":"Aplasia of the glenoid fossa","HPO_Name__c":"Absent glenoid fossa","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:96334","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Reduced width of the chest from side to side, associated with a reduced distance from the sternal notch to the tip of the shoulder.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000774","HPO_Synonym__c":"Low chest circumference; Narrow chest; Narrow shoulders; Narrow thorax; Reduced anterior-posterior chest diameter","HPO_Name__c":"Narrow chest","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:96334","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"The presence of abnormal punctate (speckled, dot-like) calcifications in one or more epiphyses.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0010655","HPO_Synonym__c":"Epiphyseal punctate calcifications; Speckled calcifications in end part of bone; Stippled epiphyses; Stippling of the epiphyses","HPO_Name__c":"Epiphyseal stippling","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:96334","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A developmental defect characterized by reduced length of the first metacarpal (long bone) of the hand.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0010034","HPO_Synonym__c":"First metacarpal hypoplasia; First metacarpals hypoplastic; Hypoplastic 1st metacarpal; Short first metacarpal; Short first metacarpals; Shortened 1st long bone of hand","HPO_Name__c":"Short 1st metacarpal","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:96334","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"An anomaly of the arch of aorta.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0012303","HPO_Synonym__c":"Abnormality of the aortic arch","HPO_Name__c":"Abnormal aortic arch morphology","Feature_System__c":"Cardiovascular System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:96334","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:96334","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Pulmonary hypertension is defined mean pulmonary artery pressure of 25mmHg or more and pulmonary capillary wedge pressure of 15mmHg or less when measured by right heart catheterisation at rest and in a supine position.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002092","HPO_Synonym__c":"Increased blood pressure in blood vessels of lungs; Pulmonary artery hypertension","HPO_Name__c":"Pulmonary arterial hypertension","Feature_System__c":"Cardiovascular System; Respiratory system","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:96334","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"The presence of a hernia in the abdominal wall.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0004299","HPO_Synonym__c":"Herniated abdominal wall","HPO_Name__c":"Hernia of the abdominal wall","Feature_System__c":"Musculoskeletal System; Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:96334","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Limb shortening because of underdevelopment of one or more bones of the extremities.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0009826","HPO_Synonym__c":"Hypoplasia involving bones of the extremities; limb shortening; Limb undergrowth; Short limb; Short limbs","HPO_Name__c":"Limb undergrowth","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:96334","HPO_Frequency__c":"Frequent (30-79%)","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:96334","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A bending or abnormal curvature of the tibia.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002982","HPO_Synonym__c":"Bowed shankbone; Bowed shinbone; Bowed tibia; Bowing of the tibia","HPO_Name__c":"Tibial bowing","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:96334","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A heterogeneous group of congenital spinal anomalies that result from defective closure of the neural tube early in fetal life.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0010301","HPO_Synonym__c":"Incomplete closure of the vertebral arch","HPO_Name__c":"Spinal dysraphism","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:96334","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Hypotonia is an abnormally low muscle tone (the amount of tension or resistance to movement in a muscle). Even when relaxed, muscles have a continuous and passive partial contraction which provides some resistance to passive stretching. Hypotonia thus manifests as diminished resistance to passive stretching. Hypotonia is not the same as muscle weakness, although the two conditions can co-exist.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001252","HPO_Synonym__c":"Low muscle tone; Low or weak muscle tone; Muscle hypotonia; Muscular hypotonia","HPO_Name__c":"Hypotonia","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:96334","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"An abnormally short femoral neck (which is the process of bone, connecting the femoral head with the femoral shaft).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0100864","HPO_Synonym__c":"Hypoplasia of the femoral neck; Hypoplastic femoral neck; Short femoral necks; Short neck of thighbone","HPO_Name__c":"Short femoral neck","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:96334","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"An abnormal morphology (form) of the face or its components.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001999","HPO_Synonym__c":"Abnormal facial shape; Abnormal morphology of the face; Distinctive facies; Dysmorphic facial features; Dysmorphic facies; Facial dysmorphism; Unusual facial appearance; Unusual facies","HPO_Name__c":"Abnormal facial shape","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:96334","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Abnormal prominence of the chin related to increased length of the mandible.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000303","HPO_Synonym__c":"Big lower jaw; Big mandible; Enlarged mandible; Enlargement of mandible; Hyperplasia of lower jaw; Increased projection of lower jaw; Increased projection of mandible; Increased size of lower jaw; Large lower jaw; Large mandible; Lower jaw excess; Lower jaw hyperplasia; Macromandible; Mandible prognathism; Mandibular excess; Mandibular hyperplasia; Mandibular macrognathia; Mandibular prognathism; Prognathia; Prognathism; Prominent chin; Prominent jaw; Prominent lower jaw; Prominent mandible; Relative mandibular prognathism","HPO_Name__c":"Mandibular prognathia","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:96334","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Lack of full passive range of motion (restrictions in flexion, extension, or other movements) of the thumb joint resulting from structural changes of non-bony tissues, such as muscles, tendons, ligaments, joint capsules and/or skin. The term camptodactyly is used if the distal and/or proximal interphalangeal joints are affected.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0009600","HPO_Synonym__c":"Contracture of thumb; Flexion deformities of thumbs; Joint contractures of the thumb; Thumb joint contracture","HPO_Name__c":"Thumb contracture","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:96334","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"A flexion contracture is a bent (flexed) joint that cannot be straightened actively or passively. It is thus a chronic loss of joint motion due to structural changes in muscle, tendons, ligaments, or skin that prevents normal movement of joints.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001371","HPO_Synonym__c":"Flexed joint that cannot be straightened; Flexion contractures; Flexion contractures of joints","HPO_Name__c":"Flexion contracture","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:96334","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A thrusting or bulging out of the abdomen.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001538","HPO_Synonym__c":"Abdominal protuberance; Belly sticks out; Extended belly","HPO_Name__c":"Protuberant abdomen","Feature_System__c":"Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:96334","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"The distal and proximal transverse palmar creases are merged into a single transverse palmar crease.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000954","HPO_Synonym__c":"Simian crease; Simian creases; Simian line; Single flexion crease; Single palmar crease; Single palmar creases; Single transverse palmar creases; Transverse palmar crease","HPO_Name__c":"Single transverse palmar crease","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:96334","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Reduced size of the proximal epiphysis of the tibia.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0012284","HPO_Synonym__c":"Small end part of innermost shankbone; Small end part of innermost shinbone","HPO_Name__c":"Small proximal tibial epiphyses","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:96334","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"The presence of nipples that instead of pointing outward are retracted inwards.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003186","HPO_Synonym__c":"Invaginated nipples; Inverted nipples","HPO_Name__c":"Inverted nipples","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:96334","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Coxa valga is a deformity of the hip in which the angle between the femoral shaft and the femoral neck is increased compared to age-adjusted values (about 150 degrees in newborns gradually reducing to 120-130 degrees in adults).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002673","HPO_Synonym__c":"Valgus hip","HPO_Name__c":"Coxa valga","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}}],"tags":{"Account":["Chromosomal Anomaly"],"Cause":["Chromosomal Anomaly","Genetics"],"Disease Category":["Genetics","Neurology","Congenital Abnormality"],"Specialist":["Genetics","Neurology","Neurodevelopmental disabilities","Pediatrics"]},"synonyms":["kagami-ogata syndrome due to paternal uniparental disomy of chromosome 14"," paternal uniparental disomy of chromosome type 14"," upd(14)pat"," upd14, paternal"]}