{"Name":"Jeune thoracic dystrophy","DiseaseID__c":"GARD:0003049","id":3049,"encodedName":"jeune-thoracic-dystrophy","IsDeleted":false,"Disease_Name_Full__c":"Jeune thoracic dystrophy","Xref_IDs__c":"75049004; C0265275; C537571; C84794; DOID:0050592; MEDGEN:78548; MONDO:0018770; OMIMPS:208500; ORPHA:474","USA_Estimate__c":"5,000","No_of_Specialist_Tagsa__c":5,"No_of_ClinGen_records__c":0,"No_of_GeneReviews__c":0,"No_of_HHS_records__c":1,"World_Estimate__c":"8,000 to 80,000","No_of_HRSA_records__c":0,"Evidence_Based_Score__c":1,"No_of_Disease_Descriptions__c":4,"Disease_Characteristics_Score__c":8,"No_of_Age_at_Onset__c":2,"Description_Source__c":"MONDO:0018770","Disease_Description__c":"Jeune syndrome, also called asphyxiating thoracic dystrophy, is a short-rib dysplasia characterized by a narrow thorax, short limbs and radiological skeletal abnormalities including 'trident' aspect of the acetabula and metaphyseal changes.","GARD_Name__c":"Jeune thoracic dystrophy","GARD_Synonym__c":"asphyxiating thoracic dystrophy; asphyxiating thoracic dystrophy of the newborn; chondroectodermal dysplasia-like syndrome; infantile thoracic dystrophy; jatd; jeune asphyxiating thoracic dystrophy; jeune syndrome; jeune thoracic dysplasia; jeune's syndrome; short-rib thoracic dysplasia; short-rib thoracic dysplasia with or without polydactyly; thoracic pelvic phalangeal dystrophy","Curated_Disease_Description_Source__c":"GARD:0003049","Curated_Disease_Description__c":"Asphyxiating thoracic dystrophy, also known as Jeune syndrome, is an inherited disorder of bone growth characterized by a narrow chest, short ribs, shortened bones in the arms and legs, short stature, and extra fingers and toes (polydactyly). Additional skeletal abnormalities can include unusually shaped collarbones (clavicles) and pelvic bones, and and cone-shaped ends of the long bones in the arms and legs. Many infants with this condition are born with an extremely narrow, bell-shaped chest that can restrict the growth and expansion of the lungs. Life-threatening problems with breathing result, and people with asphyxiating thoracic dystrophy may live only into infancy or early childhood. However, in people who survive beyond the first few years, the narrow chest and related breathing problems can improve with age. Some people with asphyxiating thoracic dystrophy are born with less severe skeletal abnormalities and have only mild breathing difficulties, such as rapid breathing or shortness of breath. These individuals may live into adolescence or adulthood. After infancy, people with this condition may develop life-threatening kidney (renal) abnormalities that cause the kidneys to malfunction or fail. Heart defects and a narrowing of the airway (subglottic stenosis) are also possible. Other, less common features of asphyxiating thoracic dystrophy include liver disease, fluid-filled sacs (cysts) in the pancreas, dental abnormalities, and an eye disease called retinal dystrophy that can lead to vision loss.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"5,000","Age_at_Onset_Snippet_Text__c":"during Pregnancy and as a Newborn","SourceID__c":"ORPHA:474","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Grouping","MONDO_ID__c":"MONDO:0018770","ORPHANET_ID__c":"ORPHA:474","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Síndrome de jeune","Spanish_Description_Source__c":"ORPHA:474","Spanish_Description__c":"El síndrome de Jeune, también llamado distrofia torácica asfixiante, es una displasia con costillas cortas caracterizada por tórax estrecho, extremidades cortas y anomalías esqueléticas radiológicas que incluyen acetábulo en forma de tridente y cambios metafisarios.","Spanish_Disease_Name__c":"síndrome de jeune","Spanish_GARD_Synonym__c":"distrofia torácica asfixiante de jeune; distrofia torácica asfixiante del recién nacido; jatd","Category_Linearization__c":"ORPHA:93419","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":"Asphyxiating thoracic dystrophy, also known as Jeune syndrome, is an inherited disorder of bone growth characterized by a narrow chest, short ribs, shortened bones in the arms and legs, short stature, and extra fingers and toes (polydactyly). Additional skeletal abnormalities can include unusually shaped collarbones (clavicles) and pelvic bones, and and cone-shaped ends of the long bones in the arms and legs. Many infants with this condition are born with an extremely narrow, bell-shaped chest that can restrict the growth and expansion of the lungs. Life-threatening problems with breathing result, and people with asphyxiating thoracic dystrophy may live only into infancy or early childhood. However, in people who survive beyond the first few years, the narrow chest and related breathing problems can improve with age. Some people with asphyxiating thoracic dystrophy are born with less severe skeletal abnormalities and have only mild breathing difficulties, such as rapid breathing or shortness of breath. These individuals may live into adolescence or adulthood. After infancy, people with this condition may develop life-threatening kidney (renal) abnormalities that cause the kidneys to malfunction or fail. Heart defects and a narrowing of the airway (subglottic stenosis) are also possible. Other, less common features of asphyxiating thoracic dystrophy include liver disease, fluid-filled sacs (cysts) in the pancreas, dental abnormalities, and an eye disease called retinal dystrophy that can lead to vision loss.","Curated_Disease_Description_Source__c":"GARD:0003049","GARD_Synonym__c":"asphyxiating thoracic dystrophy; asphyxiating thoracic dystrophy of the newborn; chondroectodermal dysplasia-like syndrome; infantile thoracic dystrophy; jatd; jeune asphyxiating thoracic dystrophy; jeune syndrome; jeune thoracic dysplasia; jeune's syndrome; short-rib thoracic dysplasia; short-rib thoracic dysplasia with or without polydactyly; thoracic pelvic phalangeal dystrophy","Name":"Jeune thoracic dystrophy","Curated_USA_Estimate__c":"5,000","estimateUsa":"5,000"}],"Organization_Supported_Diseases__c":[{"Account_Name__c":"The MAGIC Foundation","Website__c":"https://www.magicfoundation.org/"},{"Account_Name__c":"Little People of America","Website__c":"https://www.lpaonline.org/"},{"Account_Name__c":"European Reference Network on Bone Disorders","Website__c":"https://ernbond.eu/"}],"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":"Pulmonology","Tag_Category__c":"Disease Category;Specialist","category_description":"Respiratory diseases affect the nose, mouth, throat, voice box, windpipe, lungs, or blood vessels.","curated_tag_name":"Respiratory diseases"},{"Tag_Name__c":"Nephrology","Tag_Category__c":"Account;Disease Category;Specialist","category_description":"Kidney diseases affect the kidneys' ability to remove waste and water from blood, create urine, or make certain hormones.","curated_tag_name":"Kidney 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":"Orthopedics","Tag_Category__c":"Specialist"},{"Tag_Name__c":"Pediatrics","Tag_Category__c":"Specialist"}],"Age_At_Onset__c":[{"Age_At_Onset__c":"Neonatal","Provided_By__c":"ORPHA:474"},{"Age_At_Onset__c":"Antenatal","Provided_By__c":"ORPHA:474"}],"Diagnosis__c":[{"Type__c":"GTR","Curie__c":"MEDGEN:C0265275"}],"External_Identifier_Disease__c":[{"URL__c":"https://raresource.nih.gov/diseases/filter/0003049","Source__c":"RareSource"},{"URL__c":"https://www.orpha.net/en/disease/detail/474","Source__c":"C0265275; MONDO:0018770; ORPHA:474","Xref__c":"ORPHA:474"},{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A0050592","Source__c":"MONDO:0018770","Xref__c":"DOID:0050592"},{"URL__c":"https://www.omim.org/phenotypicSeries/PS208500","Source__c":"MONDO:0018770","Xref__c":"OMIMPS:208500"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C537571","Source__c":"MONDO:0018770","Xref__c":"C537571"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C0265275","Source__c":"C0265275","Xref__c":"C0265275"},{"URL__c":"https://evsexplore.semantics.cancer.gov/evsexplore/concept/ncit/C84794","Source__c":"C0265275; MONDO:0018770","Xref__c":"C84794"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=78548","Source__c":"C0265275","Xref__c":"MEDGEN:78548"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=75049004","Source__c":"C0265275; MONDO:0018770","Xref__c":"75049004"},{"URL__c":"https://medlineplus.gov/genetics/condition/asphyxiating-thoracic-dystrophy","Source__c":"GARD:0003049","Xref__c":"https://medlineplus.gov/genetics/condition/asphyxiating-thoracic-dystrophy"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0018770","Source__c":"GARD:0003049","Xref__c":"MONDO:0018770"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"WDR19","GHR_URL__c":"https://medlineplus.gov/genetics/gene/wdr19","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true},{"GeneSymbol__c":"IFT140","GHR_URL__c":"https://medlineplus.gov/genetics/gene/ift140","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true},{"GeneSymbol__c":"DYNC2H1","GHR_URL__c":"https://medlineplus.gov/genetics/gene/dync2h1","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true},{"GeneSymbol__c":"DYNC2I1","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true},{"GeneSymbol__c":"KIAA0753","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true},{"GeneSymbol__c":"TTC21B","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true},{"GeneSymbol__c":"IFT80","GHR_URL__c":"https://medlineplus.gov/genetics/gene/ift80","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true},{"GeneSymbol__c":"DYNC2LI1","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true},{"GeneSymbol__c":"DYNC2I2","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true},{"GeneSymbol__c":"CEP120","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true},{"GeneSymbol__c":"IFT172","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["Autosomal recessive"],"GARD_Disease_Feature__c":[{"Provided_By__c":"ORPHA:474","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"A general term describing features characterized by abnormal development of bones and connective tissues.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002652","HPO_Name__c":"Skeletal dysplasia","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:474","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"The presence of abnormally small extremities.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002983","HPO_Synonym__c":"Smaller or shorter than typical limbs","HPO_Name__c":"Micromelia","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:474","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"An abnormality of the liver.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001392","HPO_Synonym__c":"Abnormal liver; Abnormality of the liver; Liver abnormality","HPO_Name__c":"Abnormality of the liver","Feature_System__c":"Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:474","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A reduction in the level of performance of the kidneys in areas of function comprising the concentration of urine, removal of wastes, the maintenance of electrolyte balance, homeostasis of blood pressure, and calcium metabolism.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000083","HPO_Synonym__c":"Renal failure; Renal failure in adulthood","HPO_Name__c":"Renal insufficiency","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:474","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"An abnormality of the bony pelvic girdle, which is a ring of bones connecting the vertebral column to the femurs.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002644","HPO_Synonym__c":"Abnormal shape of pelvic girdle bone; Abnormality of pelvic girdle bone morphology","HPO_Name__c":"Abnormal pelvic girdle bone morphology","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:474","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Webbing or fusion of the toes, involving soft parts only or including bone structure. Bony fusions are referred to as \\\"bony\\\" Syndactyly if the fusion occurs in a radio-ulnar axis. Fusions of bones of the toes in a proximo-distal axis are referred to as \\\"Symphalangism\\\".","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001770","HPO_Synonym__c":"Foot syndactyly; Fused toes; Syndactyly of feet; Syndactyly of toes; Webbed toes","HPO_Name__c":"Toe syndactyly","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:474","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A nonspecific term referring to disease or damage of the kidneys.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000112","HPO_Name__c":"Nephropathy","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:474","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"An abnormality of one or more metaphysis, i.e., of the somewhat wider portion of a long bone that is adjacent to the epiphyseal growth plate and grows during childhood.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000944","HPO_Synonym__c":"Abnormality of the wide portion of a long bone","HPO_Name__c":"Abnormal metaphysis morphology","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:474","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Polydactyly of the foot most commonly refers to the presence of six toes on one foot. Postaxial polydactyly affects the lateral ray and the duplication may range from a well-formed articulated digit to a rudimentary digit.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001830","HPO_Synonym__c":"Extra toe attached near the little toe; Polydactyly affecting the 5th toe; Postaxial polydactyly of feet; Postaxial polydactyly of foot; Posterior polydactyly of foot","HPO_Name__c":"Postaxial foot polydactyly","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:474","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"A measured foot length that is more than 2 SD below the mean for a newborn of 27 - 41 weeks gestation, or foot that is less than the 3rd centile for individuals from birth to 16 years of age (objective). Alternatively, a foot that appears disproportionately short (subjective).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001773","HPO_Synonym__c":"Hypoplastic feet; Short feet; Short foot; Small feet","HPO_Name__c":"Short foot","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:474","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002093","HPO_Synonym__c":"Respiratory impairment","HPO_Name__c":"Respiratory insufficiency","Feature_System__c":"Respiratory system","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:474","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0006703","HPO_Synonym__c":"Absent/small lungs; Absent/underdeveloped lungs","HPO_Name__c":"Aplasia/Hypoplasia of the lungs","Feature_System__c":"Respiratory system","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:474","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Cone-shaped epiphyses (also known as coned epiphyses) are epiphyses that invaginate into cupped metaphyses. That is, the epiphysis has a cone-shaped distal extension resulting from increased growth of the central portion of the epiphysis relative to its periphery.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0010579","HPO_Synonym__c":"Cone-shaped end part of bone; Cone-shaped epiphyses; Coned epiphyses","HPO_Name__c":"Cone-shaped epiphysis","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:474","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Presence of cysts at the corticomedullary junction of the kidney in combination with tubulointerstitial fibrosis.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000090","HPO_Synonym__c":"juvenile nephronophthisis","HPO_Name__c":"Nephronophthisis","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:474","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"An anomaly of the rib.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000772","HPO_Synonym__c":"Abnormality of the ribs; Rib abnormalities; Rib anomalies","HPO_Name__c":"Abnormal rib morphology","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:474","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Digits that appear disproportionately short compared to the hand/foot. The word brachydactyly is used here to describe a series distinct patterns of shortened digits (brachydactyly types A-E). This is the sense used here.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001156","HPO_Synonym__c":"Brachydactyly syndrome; Short fingers or toes","HPO_Name__c":"Brachydactyly","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:474","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Supernumerary digits located at the ulnar side of the hand (that is, on the side with the fifth finger).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001162","HPO_Synonym__c":"Extra little finger; Extra pinkie finger; Extra pinky finger; Polydactyly affecting the 5th finger; Postaxial polydactyly of fingers; Postaxial polydactyly of hand; Postaxial polydactyly of hands","HPO_Name__c":"Postaxial hand polydactyly","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:474","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"An anomaly of the sternum, also known as the breastbone.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000766","HPO_Synonym__c":"Abnormality of the sternum; Pectus carinatum or pectus excavatum; Pectus deformities; Pectus deformity; Pectus excavatum or carinatum; Pectus excavatum or pectus carinatum; Pectus excavatum/carinatum; Sternal anomalies","HPO_Name__c":"Abnormal sternum morphology","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:474","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Reduced inferior to superior extent of the thorax.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0010306","HPO_Synonym__c":"Shorter than typical length between neck and abdomen","HPO_Name__c":"Short thorax","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:474","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Any abnormality of the clavicles (collar bones).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000889","HPO_Synonym__c":"Abnormal clavicles; Abnormal collarbone; Abnormality of the clavicle","HPO_Name__c":"Abnormal clavicle morphology","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:474","HPO_Frequency__c":"Very frequent (80-99%)","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:474","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Impaired feeding performance of an infant as manifested by difficulties such as weak and ineffective sucking, brief bursts of sucking, and falling asleep during sucking. There may be difficulties with chewing or maintaining attention.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0008872","HPO_Name__c":"Feeding difficulties in infancy","Feature_System__c":"Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:474","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:474","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Any deviation from the normal pigmentation of the retina.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0007703","HPO_Synonym__c":"Abnormality of retinal pigment epithelium; Abnormality of retinal pigmentation; Abnormality of RPE; Retinal pigmentary anomaly","HPO_Name__c":"Abnormal retinal pigmentation","HPO_Feature_Type__c":"Symptom"}}],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics","Pulmonology","Nephrology","Congenital Abnormality"],"Specialist":["Genetics","Pulmonology","Nephrology","Orthopedics","Pediatrics"],"Account":["Nephrology"]},"synonyms":["asphyxiating thoracic dystrophy"," asphyxiating thoracic dystrophy of the newborn"," chondroectodermal dysplasia-like syndrome"," infantile thoracic dystrophy"," jatd"," jeune asphyxiating thoracic dystrophy"," jeune syndrome"," jeune thoracic dysplasia"," jeune's syndrome"," short-rib thoracic dysplasia"," short-rib thoracic dysplasia with or without polydactyly"," thoracic pelvic phalangeal dystrophy"]}