{"Name":"Kniest dysplasia","DiseaseID__c":"GARD:0006841","id":6841,"encodedName":"kniest-dysplasia","IsDeleted":false,"Disease_Name_Full__c":"Kniest dysplasia","Xref_IDs__c":"53974002; C0265279; C125594; C537207; DOID:0080045; MEDGEN:75559; MONDO:0007987; OMIM:156550; ORPHA:485","USA_Estimate__c":null,"No_of_Specialist_Tagsa__c":4,"No_of_ClinGen_records__c":0,"No_of_GeneReviews__c":0,"No_of_HHS_records__c":1,"World_Estimate__c":null,"No_of_HRSA_records__c":0,"Evidence_Based_Score__c":1,"No_of_Disease_Descriptions__c":5,"Disease_Characteristics_Score__c":8,"No_of_Age_at_Onset__c":3,"Description_Source__c":"MONDO:0007987","Disease_Description__c":"Kniest dysplasia is a severe type II collagenopathy characterized by a short trunk and limbs, prominent joints and midface hypoplasia (round face with a flat nasal root).","GARD_Name__c":"Kniest dysplasia","GARD_Synonym__c":"kniest chondrodystrophy; kniest syndrome; swiss cheese cartilage dysplasia","Curated_Disease_Description_Source__c":"GARD:0006841","Curated_Disease_Description__c":"Kniest dysplasia is a skeletal disorder that is characterized by short stature, joint disease, and problems with vision and hearing.  People with Kniest dysplasia are born with a short torso and short arms and legs. Adult height ranges from approximately 42 to 57 inches. Other skeletal problems may include a rounded upper back that also curves to the side (kyphoscoliosis), flattened bones of the spine (platyspondyly), dumbbell-shaped bones in the legs, and inward- and upward-turning feet (clubfeet). A distinguishing feature of Kniest dysplasia is abnormal cartilage. Cartilage is a tough, flexible tissue that makes up much of the skeleton during early development; most cartilage is later converted to bone. People with Kniest dysplasia have tiny holes in their cartilage, which makes the cartilage look like Swiss cheese when seen with medical imaging.  Individuals with Kniest dysplasia often have distinctive facial features, which include a round, flat face with prominent and wide-set eyes.  Some affected infants are born with an opening in the roof of the mouth (cleft palate). Infants with Kniest dysplasia may also have breathing problems due to a windpipe that is too flexible. Enlarged joints that cause pain and restrict movement are another sign of Kniest dysplasia. These joint problems typically lead to early-onset arthritis. Many people with Kniest dysplasia also have hearing loss and problems with vision, such as severe nearsightedness (myopia) and tearing of the light-sensitive tissue at the back of the eye (retinal detachment).","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":null,"Age_at_Onset_Snippet_Text__c":"during Pregnancy, at Birth, and as an Infant","SourceID__c":"ORPHA:485","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0007987","ORPHANET_ID__c":"ORPHA:485","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Displasia de kniest","Spanish_Description_Source__c":"ORPHA:485","Spanish_Description__c":"La displasia de Kniest es una colagenopatía de tipo II grave, caracteriza por tronco y extremidades cortas, articulaciones prominentes e hipoplasia mediofacial (cara redondeada con raíz nasal plana).","Spanish_Disease_Name__c":"displasia de kniest","Spanish_GARD_Synonym__c":null,"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":"Kniest dysplasia is a skeletal disorder that is characterized by short stature, joint disease, and problems with vision and hearing.  People with Kniest dysplasia are born with a short torso and short arms and legs. Adult height ranges from approximately 42 to 57 inches. Other skeletal problems may include a rounded upper back that also curves to the side (kyphoscoliosis), flattened bones of the spine (platyspondyly), dumbbell-shaped bones in the legs, and inward- and upward-turning feet (clubfeet). A distinguishing feature of Kniest dysplasia is abnormal cartilage. Cartilage is a tough, flexible tissue that makes up much of the skeleton during early development; most cartilage is later converted to bone. People with Kniest dysplasia have tiny holes in their cartilage, which makes the cartilage look like Swiss cheese when seen with medical imaging.  Individuals with Kniest dysplasia often have distinctive facial features, which include a round, flat face with prominent and wide-set eyes.  Some affected infants are born with an opening in the roof of the mouth (cleft palate). Infants with Kniest dysplasia may also have breathing problems due to a windpipe that is too flexible. Enlarged joints that cause pain and restrict movement are another sign of Kniest dysplasia. These joint problems typically lead to early-onset arthritis. Many people with Kniest dysplasia also have hearing loss and problems with vision, such as severe nearsightedness (myopia) and tearing of the light-sensitive tissue at the back of the eye (retinal detachment).","Curated_Disease_Description_Source__c":"GARD:0006841","GARD_Synonym__c":"kniest chondrodystrophy; kniest syndrome; swiss cheese cartilage dysplasia","Name":"Kniest dysplasia","estimateUsa":""}],"Organization_Supported_Diseases__c":[{"Account_Name__c":"Little People of America","Website__c":"https://www.lpaonline.org/"},{"Account_Name__c":"Kniest SED Group","Website__c":"https://ksginfo.org/"}],"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":"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":"Otolaryngology","Tag_Category__c":"Specialist"},{"Tag_Name__c":"Craniofacial Anomalies","Tag_Category__c":"Account","curated_tag_name":"Craniofacial anomalies"},{"Tag_Name__c":"Pediatrics","Tag_Category__c":"Specialist"}],"Age_At_Onset__c":[{"Age_At_Onset__c":"Neonatal","Provided_By__c":"ORPHA:485"},{"Age_At_Onset__c":"Infancy","Provided_By__c":"ORPHA:485"},{"Age_At_Onset__c":"Antenatal","Provided_By__c":"ORPHA:485"}],"Diagnosis__c":[{"Type__c":"GTR","Curie__c":"MEDGEN:C0265279"}],"External_Identifier_Disease__c":[{"URL__c":"https://raresource.nih.gov/diseases/filter/0006841","Source__c":"RareSource"},{"URL__c":"https://www.ncbi.nlm.nih.gov/books/NBK540447","Source__c":"Gene Review","Xref__c":"NBK540447"},{"URL__c":"https://www.omim.org/entry/156550","Source__c":"C0265279; MONDO:0007987; ORPHA:485","Xref__c":"OMIM:156550"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C537207","Source__c":"MONDO:0007987","Xref__c":"C537207"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=53974002","Source__c":"C0265279; MONDO:0007987","Xref__c":"53974002"},{"URL__c":"https://evsexplore.semantics.cancer.gov/evsexplore/concept/ncit/C125594","Source__c":"C0265279; MONDO:0007987","Xref__c":"C125594"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=75559","Source__c":"C0265279","Xref__c":"MEDGEN:75559"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C0265279","Source__c":"C0265279","Xref__c":"C0265279"},{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A0080045","Source__c":"MONDO:0007987","Xref__c":"DOID:0080045"},{"URL__c":"https://www.orpha.net/en/disease/detail/485","Source__c":"C0265279; MONDO:0007987; ORPHA:485","Xref__c":"ORPHA:485"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0007987","Source__c":"GARD:0006841","Xref__c":"MONDO:0007987"},{"URL__c":"https://medlineplus.gov/genetics/condition/kniest-dysplasia","Source__c":"GARD:0006841","Xref__c":"https://medlineplus.gov/genetics/condition/kniest-dysplasia"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"COL2A1","GHR_URL__c":"https://medlineplus.gov/genetics/gene/col2a1","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["Autosomal dominant"],"GARD_Disease_Feature__c":[{"Provided_By__c":"ORPHA:485","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Developmental hypoplasia of the dens of the axis.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003311","HPO_Synonym__c":"Hypoplastic odontoid process; Odontoid hypoplasia; Small odontoid peg; Small odontoid process","HPO_Name__c":"Hypoplasia of the odontoid process","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:485","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Cleft palate is a developmental defect of the palate resulting from a failure of fusion of the palatine processes and manifesting as a separation of the roof of the mouth (soft and hard palate).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000175","HPO_Synonym__c":"Cleft hard and soft palate; Cleft of hard and soft palate; Cleft of palate; Cleft palate; Cleft roof of mouth; Palatoschisis; Uranostaphyloschisis","HPO_Name__c":"Cleft palate","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:485","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Joint stiffness is a perceived sensation of tightness in a joint or joints when attempting to move them after a period of inactivity. Joint stiffness typically subsides over time.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001387","HPO_Synonym__c":"Joint stiffness; Stiff joint; Stiff joints","HPO_Name__c":"Joint stiffness","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:485","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Abnormal widening of the metaphyseal regions of long bones.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003016","HPO_Synonym__c":"Broad wide portion of long bone; Wide metaphyses; Widened long bone metaphyses; Widened metaphyses","HPO_Name__c":"Metaphyseal widening","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:485","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A cataract is an opacity or clouding that develops in the crystalline lens of the eye or in its capsule.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000518","HPO_Synonym__c":"Cataracts; Clouding of the lens of the eye; Cloudy lens; Lens opacities; Lens opacity","HPO_Name__c":"Cataract","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:485","HPO_Frequency__c":"Uncommon (<1-4%)","Feature__r":{"HPO_Description__c":"Occipitofrontal (head) circumference greater than 97th centile compared to appropriate, age matched, sex-matched normal standards. Alternatively, a apparently increased size of the cranium.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000256","HPO_Synonym__c":"Increased size of cranium; Increased size of skull; Large head; Large head circumference; Macrocephalus; Macrocrania; Megacephaly","HPO_Name__c":"Macrocephaly","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:485","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"The femur is shortened and displays flaring (widening) of the metaphyses.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0006375","HPO_Synonym__c":"Dumbbell-shaped thighbone","HPO_Name__c":"Dumbbell-shaped femur","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:485","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0004557","HPO_Name__c":"Anterior vertebral fusion","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:485","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A plaque (a solid, raised, plateau-like (flat-topped) lesion greater than 1 cm in diameter) with a red or reddish color often associated with inflammation or irritation.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0025474","HPO_Name__c":"Erythematous plaque","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:485","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Any anomaly in the composite material or the layered arrangement of the bony skeleton.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003330","HPO_Name__c":"Abnormal bone structure","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:485","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"The facial appearance is more circular than usual as viewed from the front.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000311","HPO_Synonym__c":"Circular face; Round face; Round facial appearance; Round facial shape; Round facies","HPO_Name__c":"Round face","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:485","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A congenital anomaly characterized by a joining (fusion) of two or more cervical vertebral bodies with one another.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002949","HPO_Synonym__c":"Cervical spine fusion; Cervical vertebral fusion; Fused neck; Fusion of cervical vertebrae","HPO_Name__c":"Fused cervical vertebrae","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:485","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Increased size of epiphyses.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0010580","HPO_Synonym__c":"Large end part of bone; Large epiphyses; Widened, distorted epiphyses","HPO_Name__c":"Enlarged epiphyses","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:485","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001488","HPO_Synonym__c":"Drooping of both upper eyelids","HPO_Name__c":"Bilateral ptosis","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:485","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002663","HPO_Synonym__c":"Delayed epiphyseal maturation; Delayed opacification of the epiphyses; Epiphyseal ossification delay","HPO_Name__c":"Delayed epiphyseal ossification","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:485","HPO_Frequency__c":"Uncommon (<1-4%)","Feature__r":{"HPO_Description__c":"External mechanical compression of the spinal cord.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002176","HPO_Synonym__c":"Pressure on spinal cord","HPO_Name__c":"Spinal cord compression","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:485","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"One or more abnormally short long bone.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003026","HPO_Synonym__c":"Long bone shortening; Short long bone; Short tubular bones; shortened long tubular bones","HPO_Name__c":"Short long bone","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:485","HPO_Frequency__c":"Occasional (5-29%)","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:485","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Pierre Robin malformation is a sequence of developmental malformations characterized by micrognathia (mandibular hypoplasia), glossoptosis and cleft palate.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000201","HPO_Synonym__c":"Pierre Robin sequence; Pierre-robin anomaly; Pierre-robin deformity; Pierre-robin malformation; Robin sequence","HPO_Name__c":"Pierre-Robin sequence","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:485","HPO_Frequency__c":"Always (100%)","Feature__r":{"HPO_Description__c":"Abnormal morphology of collagen fibers in cartilage. In cartilage, collagen II, actually a collagen II:IX:XI heterofibril, is by far the most important type of collagen. A number of abnormalities may be appreciated by electron micrography or biochemical investigations, including sparse collagen fibers in the cartilage matrix.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0008271","HPO_Name__c":"Abnormal cartilage collagen","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:485","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"An abnormal structure or form of the joints, i.e., one or more of the articulations where two bones join.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001367","HPO_Synonym__c":"Abnormal shape of joints; Abnormality of the joints; Anomaly of the joints","HPO_Name__c":"Abnormal joint morphology","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:485","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"A type of disproportionate short stature characterized by a short trunk but a average-sized limbs.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003521","HPO_Synonym__c":"Disproportionate short-trunked dwarfism; Disproportionate short-trunked short stature; Short-trunked dwarfism","HPO_Name__c":"Disproportionate short-trunk short stature","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:485","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Chronic loss of joint motion in a finger due to structural changes in non-bony tissue.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0012785","HPO_Synonym__c":"Flexion deformity of finger","HPO_Name__c":"Flexion contracture of finger","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:485","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"An eye that is protruding anterior to the plane of the face to a greater extent than is typical.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000520","HPO_Synonym__c":"Anterior bulging of the globe; Anterior bulging of the globe of eye; Bulging eye; Exophthalmos; Eyeballs bulging out; Ocular proptosis; Prominent eyes; Prominent globes; Protruding eyes; Protrusio bulbi","HPO_Name__c":"Proptosis","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:485","HPO_Frequency__c":"Uncommon (<1-4%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0008755","HPO_Name__c":"Laryngotracheomalacia","Feature_System__c":"Respiratory system","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:485","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Complete dislocation of the lens of the eye.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0012019","HPO_Synonym__c":"Completely dislocated lens; Completely dislocated lenses","HPO_Name__c":"Lens luxation","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:485","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Frontal schisis (cleft or cleavage) of vertebral bodies.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003417","HPO_Synonym__c":"coronal cleft of vertebrae; Coronal clefts; Coronal vertebral clefts; Vertebral coronal clefts","HPO_Name__c":"Coronal cleft vertebrae","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:485","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"A kind of short stature in which different regions of the body are shortened to differing extents.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003498","HPO_Synonym__c":"Short stature, disproportionate","HPO_Name__c":"Disproportionate short stature","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:485","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Absence or underdevelopment of the lens.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0008063","HPO_Synonym__c":"Absent/small lens; Absent/underdeveloped lens","HPO_Name__c":"Aplasia/Hypoplasia of the lens","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:485","HPO_Frequency__c":"Uncommon (<1-4%)","Feature__r":{"HPO_Description__c":"An abnormality of the respiratory system, which include the airways, lungs, and the respiratory muscles.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002086","HPO_Synonym__c":"Respiratory abnormality","HPO_Name__c":"Abnormality of the respiratory system","Feature_System__c":"Respiratory system","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:485","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Formation of bone in the patella later than normal.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0006454","HPO_Synonym__c":"Delayed patellae ossification","HPO_Name__c":"Delayed patellar ossification","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:485","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"An abnormal shape of the vertebral bodies whereby the vertebral bodies are thick on one side and taper to a thin edge at the other.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0008422","HPO_Synonym__c":"anterior wedging; Wedge-shaped vertebrae; Wedged vertebrae","HPO_Name__c":"Vertebral wedging","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:485","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Any abnormality of the proximal epiphysis of the femur.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0010574","HPO_Synonym__c":"Abnormality of the end part of the innermost thighbone; Abnormality of the proximal femoral epiphysis","HPO_Name__c":"Abnormality of the epiphysis of the femoral head","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:485","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Increase in size of one or more joints.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003037","HPO_Synonym__c":"Enlarged joints","HPO_Name__c":"Enlarged joints","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:485","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"A severe form of myopia with greater than -6.00 diopters.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0011003","HPO_Synonym__c":"Severe myopia; Severe myopia (> -6.00 diopters); Severe near sightedness; Severely close sighted; Severely near sighted","HPO_Name__c":"High myopia","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:485","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003040","HPO_Synonym__c":"Disease of the joints","HPO_Name__c":"Arthropathy","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:485","HPO_Frequency__c":"Very frequent (80-99%)","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:485","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"A type of retinal detachment associated with a full-thickness defect in the retina that allows fluid to pass from the vitreous space into the subretinal space between the sensory retina and the retinal pigment epithelium.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0012230","HPO_Name__c":"Rhegmatogenous retinal detachment","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:485","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"A pattern of white lines and dots in the far periphery of the retina.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0007992","HPO_Name__c":"Lattice retinal degeneration","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:485","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Separation of the inner layers of the retina (neural retina) from the pigment epithelium.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000541","HPO_Synonym__c":"Detached retina; Retinal detachment","HPO_Name__c":"Retinal detachment","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:485","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Absence (due to failure to form) or underdevelopment of the extremities.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0009815","HPO_Synonym__c":"Absent/small extremities; Absent/underdeveloped extremities; Short or absent limbs; Shortened limbs","HPO_Name__c":"Aplasia/hypoplasia of the extremities","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:485","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"An abnormal lack of stability of the cervical spine.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0010646","HPO_Name__c":"Cervical spine instability","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:485","HPO_Frequency__c":"Frequent (30-79%)","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:485","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"A decreased magnitude of the sensory perception of sound.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000365","HPO_Synonym__c":"Deafness; Hearing defect; Hearing impairment; Hypacusis","HPO_Name__c":"Hearing impairment","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:485","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Ocular abnormality characterized by premature degeneration of the vitreous and the retina that may be associated with increased risk of retinal detachment.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0007773","HPO_Synonym__c":"Vitreoretinal abnormality; Vitreoretinal degeneration","HPO_Name__c":"Vitreoretinopathy","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:485","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"An abnormal appearance of the long bones with resemblance to a dumbbell, a short bar with a weight at each end. That is, the long bone is shortened and displays flaring (widening) of the metaphyses.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000947","HPO_Synonym__c":"Dumbbell widening of long bone metaphyses; Dumbbell-shaped long bone","HPO_Name__c":"Dumbbell-shaped long bone","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:485","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"The rib cage has the shape of a wide mouthed bell. That is, the superior portion of the rib cage is constricted, followed by a convex region, and the inferior portion of the rib cage expands again to have a large diameter.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001591","HPO_Synonym__c":"Bell-shaped chest; Constricted, bell-shaped thorax; Narrow, bell-shaped thorax","HPO_Name__c":"Bell-shaped thorax","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:485","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"An increased concentration of keratan sulfate in the urine.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0012069","HPO_Name__c":"Keratan sulfate excretion in urine","HPO_Feature_Type__c":"Lab"}},{"Provided_By__c":"ORPHA:485","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0007964","HPO_Name__c":"Degenerative vitreoretinopathy","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:485","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Abnormal increase in size of one or more metaphyses.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003051","HPO_Synonym__c":"Enlarged wide portion of a long bone","HPO_Name__c":"Enlarged metaphyses","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:485","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"A flattened vertebral body shape with reduced distance between the vertebral endplates.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000926","HPO_Synonym__c":"Flat vertebral bodies; Flattened vertebrae; Flattened vertebral bodies","HPO_Name__c":"Platyspondyly","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}}],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics","Congenital Abnormality"],"Specialist":["Genetics","Orthopedics","Otolaryngology","Pediatrics"],"Account":["Craniofacial Anomalies"]},"synonyms":["kniest chondrodystrophy"," kniest syndrome"," swiss cheese cartilage dysplasia"]}