{"Name":"Brittle cornea syndrome","DiseaseID__c":"GARD:0001019","id":1019,"encodedName":"brittle-cornea-syndrome","IsDeleted":false,"Disease_Name_Full__c":"Brittle cornea syndrome","Xref_IDs__c":"719096006; CN263128; DOID:14775; MEDGEN:946156; MONDO:0009242; OMIMPS:229200; ORPHA:90354","USA_Estimate__c":"1,000","No_of_Specialist_Tagsa__c":7,"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":3,"Disease_Characteristics_Score__c":8,"No_of_Age_at_Onset__c":2,"Description_Source__c":"MONDO:0009242","Disease_Description__c":"A rare, hereditary connective tissue disease characterized by severe ocular manifestations due to extreme corneal thinning and fragility with rupture in the absence of significant trauma, often leading to irreversible blindness. Extraocular manifestations comprise deafness, developmental hip dysplasia, and joint hypermobility.","GARD_Name__c":"Brittle cornea syndrome","GARD_Synonym__c":"brittle cornea syndrome type 1; kyphoscoliosis type; type vib ehlers-danlos syndrome","Curated_Disease_Description_Source__c":"GARD:0001019","Curated_Disease_Description__c":"Brittle cornea syndrome (BCS) is a genetic disease involving the connective tissue in the eyes, ears, joints, and skin. The symptoms of BCS typically involve thinning of the protective outer layer of the eye (cornea), which may lead to tearing or rupture after minor damage to the cornea. Other eye symptoms may include nearsightedness (myopia), a blueish tint in the white part of the eyes (blue sclera), and retinal detachment. Other symptoms may include hearing loss, abnormal positioning of the hip bones (hip dysplasia), and soft skin with abnormal scarring. There are 2 types of BCS. BCS type 1 is caused by changes in the ZNF469 gene and BCS type 2 is caused by changes in the PRDM5 gene. BCS is inherited in an autosomal recessive manner. The diagnosis of BCS is made based on symptoms and may be confirmed through genetic testing.","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:90354","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Grouping","MONDO_ID__c":"MONDO:0009242","ORPHANET_ID__c":"ORPHA:90354","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Síndrome de córnea frágil","Spanish_Description_Source__c":"ORPHA:90354","Spanish_Description__c":"Es una enfermedad del tejido conectivo, hereditaria y poco frecuente, caracterizada por manifestaciones oculares graves debidas a un adelgazamiento y fragilidad corneal extrema acompañadas de ruptura, en ausencia de un traumatismo importante, que a menudo resulta en ceguera irreversible. Las manifestaciones extra-oculares comprenden pérdida auditiva, displasia del desarrollo de la cadera e hipermovilidad articular.","Spanish_Disease_Name__c":"síndrome de córnea frágil","Spanish_GARD_Synonym__c":"síndrome de ehlers-danlos tipo 6b","Category_Linearization__c":"ORPHA:98023","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":"Brittle cornea syndrome (BCS) is a genetic disease involving the connective tissue in the eyes, ears, joints, and skin. The symptoms of BCS typically involve thinning of the protective outer layer of the eye (cornea), which may lead to tearing or rupture after minor damage to the cornea. Other eye symptoms may include nearsightedness (myopia), a blueish tint in the white part of the eyes (blue sclera), and retinal detachment. Other symptoms may include hearing loss, abnormal positioning of the hip bones (hip dysplasia), and soft skin with abnormal scarring. There are 2 types of BCS. BCS type 1 is caused by changes in the ZNF469 gene and BCS type 2 is caused by changes in the PRDM5 gene. BCS is inherited in an autosomal recessive manner. The diagnosis of BCS is made based on symptoms and may be confirmed through genetic testing.","Curated_Disease_Description_Source__c":"GARD:0001019","GARD_Synonym__c":"brittle cornea syndrome type 1; kyphoscoliosis type; type vib ehlers-danlos syndrome","Name":"Brittle cornea syndrome","Curated_USA_Estimate__c":"1,000","estimateUsa":"1,000"}],"Organization_Supported_Diseases__c":[{"Account_Name__c":"Bobby Jones Chiari & Syringomyelia Foundation","Website__c":"https://bobbyjonescsf.org/"},{"Account_Name__c":"National Alliance for Eye and Vision Research","Website__c":"http://www.eyeresearch.org/"},{"Account_Name__c":"Cornea Research Foundation of America","Website__c":"http://www.cornea.org"},{"Account_Name__c":"Ehlers-Danlos Support UK","Website__c":"https://www.ehlers-danlos.org/"},{"Account_Name__c":"Coalition for Heritable Disorders of Connective Tissue","Website__c":"https://www.connectivetissuecoalition.org/"},{"Account_Name__c":"The Zebra Network","Website__c":"https://thezebranetwork.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":"Ophthalmology","Tag_Category__c":"Specialist"},{"Tag_Name__c":"Rheumatology","Tag_Category__c":"Specialist"},{"Tag_Name__c":"Dermatology","Tag_Category__c":"Account;Disease Category;Specialist","category_description":"Skin diseases, or integumentary system diseases, affect the skin, hair, nails, sweat glands, or oil glands.","curated_tag_name":"Skin 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":"Anterior segment of Eye","Tag_Category__c":"Specialist","curated_tag_name":"Front part of eye disease"},{"Tag_Name__c":"Pediatrics","Tag_Category__c":"Specialist"}],"Age_At_Onset__c":[{"Age_At_Onset__c":"Neonatal","Provided_By__c":"ORPHA:90354"},{"Age_At_Onset__c":"Infancy","Provided_By__c":"ORPHA:90354"}],"External_Identifier_Disease__c":[{"URL__c":"https://raresource.nih.gov/diseases/filter/0001019","Source__c":"RareSource"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=719096006","Source__c":"MONDO:0009242","Xref__c":"719096006"},{"URL__c":"https://www.omim.org/phenotypicSeries/PS229200","Source__c":"MONDO:0009242","Xref__c":"OMIMPS:229200"},{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A14775","Source__c":"MONDO:0009242","Xref__c":"DOID:14775"},{"URL__c":"https://www.orpha.net/en/disease/detail/90354","Source__c":"CN263128; MONDO:0009242","Xref__c":"ORPHA:90354"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0009242","Source__c":"GARD:0001019","Xref__c":"MONDO:0009242"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=946156","Source__c":"CN263128","Xref__c":"MEDGEN:946156"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/CN263128","Source__c":"CN263128","Xref__c":"CN263128"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"ZNF469","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true},{"GeneSymbol__c":"PRDM5","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["Autosomal recessive"],"GARD_Disease_Feature__c":[{"Provided_By__c":"ORPHA:90354","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Osteoporosis is a systemic skeletal disease characterized by low bone density and microarchitectural deterioration of bone tissue with a consequent increase in bone fragility. According to the WHO criteria, osteoporosis is defined as a BMD that lies 2.5 standard deviations or more below the average value for young healthy adults (a T-score below -2.5 SD).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000939","HPO_Name__c":"Osteoporosis","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:90354","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Limbus-to-limbus corneal thinning, often greatest in the periphery, with globular protrusion of the cornea.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001119","HPO_Name__c":"Keratoglobus","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:90354","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"An abnormality of vibrational conductance of sound to the inner ear leading to impairment of sensory perception of sound.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000405","HPO_Synonym__c":"Conduction deafness; Conductive deafness; Conductive hearing loss; Hearing loss, conductive","HPO_Name__c":"Conductive hearing impairment","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:90354","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:90354","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"The presence of developmental dysplasia of the hip.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001385","HPO_Synonym__c":"Congenital hip dysplasia; DDH; Developmental dysplasia of the hip","HPO_Name__c":"Hip dysplasia","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:90354","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A narrowing of the right ventricular outflow tract that can occur at the pulmonary valve (valvular stenosis), below the pulmonary valve (infundibular stenosis), or above the pulmonary valve (supravalvar stenosis).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001642","HPO_Synonym__c":"Narrowing of pulmonic valve; Pulmonary stenosis; Pulmonary valve stenosis; Pulmonic valve stenosis","HPO_Name__c":"Pulmonic stenosis","Feature_System__c":"Cardiovascular System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:90354","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"The term gait disturbance can refer to any disruption of the ability to walk.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001288","HPO_Synonym__c":"Abnormal gait; Abnormal walk; Difficulty in walking; Gait abnormalities; Gait difficulties; Gait disturbances; Impaired gait; Walking disability","HPO_Name__c":"Gait disturbance","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:90354","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"An ecchymosis (bruise) refers to the skin discoloration caused by the escape of blood into the tissues from ruptured blood vessels. This term refers to an abnormally increased susceptibility to bruising. The corresponding phenotypic abnormality is generally elicited on medical history as a report of frequent ecchymoses or bruising without adequate trauma.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000978","HPO_Synonym__c":"Bruisability; Bruise easily; Bruising susceptibility; Easy bruisability; Easy bruising","HPO_Name__c":"Bruising susceptibility","Feature_System__c":"Skin System; Cardiovascular System; Blood and Blood-Forming Tissue","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:90354","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0100790","HPO_Name__c":"Hernia","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:90354","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"An erosion or abrasion of the cornea's outermost layer of epithelial cells.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0200020","HPO_Synonym__c":"Damage to outer layer of the cornea of the eye","HPO_Name__c":"Corneal erosion","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:90354","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Any abnormality of the teeth.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000164","HPO_Synonym__c":"Abnormal dentition; Abnormal teeth; Dental abnormalities; Dental abnormality; Dental anomalies","HPO_Name__c":"Abnormality of the dentition","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:90354","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:90354","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"A condition in which the skin can be stretched beyond normal, and then returns to its initial position.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000974","HPO_Synonym__c":"Hyperelastic skin; Skin hyperelasticity; Skin hyperextensibility; Stretchable skin","HPO_Name__c":"Hyperextensible skin","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:90354","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"An abnormally increased tendency to fractures of bones caused by an abnormal reduction in bone strength that is generally associated with an increased risk of fracture.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002659","HPO_Synonym__c":"Abnormal susceptibility to fractures; Bone fragility; Frequent broken bones; Increased bone fragility; Increased susceptibility to fractures; Increased tendency to fractures","HPO_Name__c":"Increased susceptibility to fractures","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:90354","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A foot where the longitudinal arch of the foot is in contact with the ground or floor when the individual is standing; or, in a patient lying supine, a foot where the arch is in contact with the surface of a flat board pressed against the sole of the foot by the examiner with a pressure similar to that expected from weight bearing; or, the height of the arch is reduced.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001763","HPO_Synonym__c":"Flat feet; Flat foot","HPO_Name__c":"Pes planus","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:90354","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"The capability that a joint (or a group of joints) has to move, passively and/or actively, beyond normal limits along physiological axes.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001382","HPO_Synonym__c":"Double-Jointed; Extensible joints; Flexible joints; Hyperextensible joints; Increased joint mobility; Increased mobility of joints; Joint hyperextensibility; Joint hyperflexibility; Joint hyperlaxity; Joint laxity; Joints move beyond expected range of motion; Lax joints; Loose-jointedness","HPO_Name__c":"Joint hypermobility","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:90354","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Pain in muscle.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003326","HPO_Synonym__c":"Muscle ache; Muscle pain","HPO_Name__c":"Myalgia","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:90354","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Muscular hypotonia (abnormally low muscle tone) manifesting in the neonatal period.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001319","HPO_Synonym__c":"Hypotonia, in neonatal onset; Hypotonia, neonatal; Low muscle tone, in neonatal onset","HPO_Name__c":"Neonatal hypotonia","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:90354","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"The term corneal dystrophy embraces a heterogenous group of bilateral genetically determined non-inflammatory corneal diseases that are restricted to the cornea.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001131","HPO_Name__c":"Corneal dystrophy","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:90354","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Abnormally long and slender fingers (spider fingers).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001166","HPO_Synonym__c":"Long slender fingers; Long, slender fingers; Spider fingers","HPO_Name__c":"Arachnodactyly","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:90354","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"An abnormal bluish coloration of the sclera.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000592","HPO_Synonym__c":"Blue sclera; Bluish sclerae; Gray sclerae; Whites of eyes are a bluish-gray color","HPO_Name__c":"Blue sclerae","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:90354","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"One or both of the leaflets (cusps) of the mitral valve bulges back into the left atrium upon contraction of the left ventricle.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001634","HPO_Name__c":"Mitral valve prolapse","Feature_System__c":"Cardiovascular System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:90354","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Lateral deviation of the great toe (i.e., in the direction of the little toe).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001822","HPO_Synonym__c":"Bunion; Lateral deviation of great toe; Lateral deviation of halluces","HPO_Name__c":"Hallux valgus","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:90354","HPO_Frequency__c":"Occasional (5-29%)","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:90354","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"An abnormality of hair pigmentation (color).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0009887","HPO_Synonym__c":"Abnormality of hair color; Abnormality of hair pigmentation","HPO_Name__c":"Abnormality of hair pigmentation","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:90354","HPO_Frequency__c":"Occasional (5-29%)","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:90354","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:90354","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"A type of hearing impairment in one or both ears related to an abnormal functionality of the cochlear nerve.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000407","HPO_Synonym__c":"Hearing loss, sensorineural; Sensorineural deafness; Sensorineural hearing loss","HPO_Name__c":"Sensorineural hearing impairment","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:90354","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"An anomaly of epiphysis, which is the expanded articular end of a long bone that developes from a secondary ossification center, and which during the period of growth is either entirely cartilaginous or is separated from the shaft by a cartilaginous disk.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0005930","HPO_Synonym__c":"Abnormal shape of end part of bone; Abnormality of epiphysis morphology; Abnormality of the epiphyses; Anomaly of the epiphyses; Epiphyseal abnormality","HPO_Name__c":"Abnormal epiphysis morphology","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:90354","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000559","HPO_Name__c":"Corneal scarring","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:90354","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Glaucoma refers loss of retinal ganglion cells in a characteristic pattern of optic neuropathy usually associated with increased intraocular pressure.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000501","HPO_Name__c":"Glaucoma","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:90354","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"A decreased anteroposterior thickness of the cornea.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0100689","HPO_Synonym__c":"Thin cornea","HPO_Name__c":"Decreased corneal thickness","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:90354","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Loss of visual acuity (implying that vision was better at a certain time point in life). Otherwise the term reduced visual acuity should be used (or a subclass of that).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000572","HPO_Synonym__c":"Loss of vision; Vision loss; Visual loss","HPO_Name__c":"Visual loss","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:90354","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Subjective impression of increased softness upon palpation of the skin.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000977","HPO_Synonym__c":"Soft skin","HPO_Name__c":"Soft skin","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}}],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics","Dermatology","Congenital Abnormality"],"Specialist":["Genetics","Ophthalmology","Rheumatology","Dermatology","Orthopedics","Anterior segment of Eye","Pediatrics"],"Account":["Dermatology"]},"synonyms":["brittle cornea syndrome type 1"," kyphoscoliosis type"," type vib ehlers-danlos syndrome"]}