{"Name":"Bone fragility with contractures, arterial rupture, and deafness","DiseaseID__c":"GARD:0017362","id":17362,"encodedName":"bone-fragility-with-contractures-arterial-rupture-and-deafness","IsDeleted":false,"Disease_Name_Full__c":"Bone fragility with contractures, arterial rupture, and deafness","Xref_IDs__c":"763318007; C2676285; C567320; MEDGEN:382811; MONDO:0012892; OMIM:612394; ORPHA:300284","USA_Estimate__c":"1,000","No_of_Specialist_Tagsa__c":5,"No_of_ClinGen_records__c":0,"No_of_GeneReviews__c":0,"No_of_HHS_records__c":0,"World_Estimate__c":"1 to 8,000","No_of_HRSA_records__c":0,"Evidence_Based_Score__c":0,"No_of_Disease_Descriptions__c":3,"Disease_Characteristics_Score__c":6,"No_of_Age_at_Onset__c":2,"Description_Source__c":"MONDO:0012892","Disease_Description__c":"Connective tissue disorder due to lysyl hydroxylase-3 deficiency is a rare, genetic disease, caused by lack of lysyl hydrohylase 3 (LH3) activity, characterized by multiple tissue and organ involvement, including skeletal abnormalities (club foot, progressive scoliosis, osteopenia, pathologic fractures), ocular involvement (flat retinae, myopia, cataracts) and hair, nail and skin anomalies (coarse, abnormally distributed hair, skin blistering, reduced palmar creases, hypoplastic nails). Patients also present intrauterine growth retardation, facial dysmorphism (flat facial profile, low-set ears, shallow orbits, short and upturned nose, downturned corners of mouth) and joint flexion contractures. Growth and developmental delay, bilateral sensorineural deafness, friable diaphragm and later-onset spontaneous vascular ruptures are additional reported features.","GARD_Name__c":"Bone fragility with contractures, arterial rupture, and deafness","GARD_Synonym__c":"bcard syndrome; bone abnormalities, cataract, arterial rupture, and deafness; bone fragility-contractures-arterial rupture-deafness syndrome; bone fragility-contractures-arterial rupture-hearing loss syndrome; connective tissue disorder due to lh3 deficiency; connective tissue disorder due to lysyl hydroxylase-3 deficiency; lh3 deficiency; lysyl hydroxylase 3 deficiency","Curated_Disease_Description_Source__c":"MONDO:0012892","Curated_Disease_Description__c":"Connective tissue disorder due to lysyl hydroxylase-3 deficiency is a rare, genetic disease, caused by lack of lysyl hydrohylase 3 (LH3) activity, characterized by multiple tissue and organ involvement, including skeletal abnormalities (club foot, progressive scoliosis, osteopenia, pathologic fractures), ocular involvement (flat retinae, myopia, cataracts) and hair, nail and skin anomalies (coarse, abnormally distributed hair, skin blistering, reduced palmar creases, hypoplastic nails). Patients also present intrauterine growth retardation, facial dysmorphism (flat facial profile, low-set ears, shallow orbits, short and upturned nose, downturned corners of mouth) and joint flexion contractures. Growth and developmental delay, bilateral sensorineural deafness, friable diaphragm and later-onset spontaneous vascular ruptures are additional reported features.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"1,000","Age_at_Onset_Snippet_Text__c":"during Pregnancy and as a Newborn","SourceID__c":"ORPHA:300284","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0012892","ORPHANET_ID__c":"ORPHA:300284","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Enfermedad del tejido conectivo por deficiencia de lisil hidroxilasa-3","Spanish_Description_Source__c":"ORPHA:300284","Spanish_Description__c":"La enfermedad del tejido conectivo por deficiencia de lisil hidroxilasa-3 es una enfermedad genética poco frecuente, causada por la falta de actividad de la lisil hidrolasa 3 (LH3), caracterizada por la afectación de múltiples tejidos y órganos, incluidas anomalías esqueléticas (pie zambo, escoliosis progresiva, osteopenia, fracturas patológicas), afectación ocular (retina plana, miopía, cataratas) y anomalías del cabello, las uñas y la piel (pelo grueso y de distribución anómala, formación de ampollas en la piel, disminución de los pliegues palmares, uñas hipoplásicas). Los afectados también presentan retraso del crecimiento intrauterino, dismorfia facial (perfil facial plano, orejas de baja implantación, órbitas poco profundas, nariz corta y hacia arriba, comisuras de la boca inclinadas hacia abajo) y contracturas articulares en flexión. El retraso del desarrollo y del crecimiento, la sordera neurosensorial bilateral, el diafragma friable y las roturas vasculares espontáneas de inicio tardío son características adicionales notificadas.","Spanish_Disease_Name__c":"enfermedad del tejido conectivo por deficiencia de lisil hidroxilasa-3","Spanish_GARD_Synonym__c":"enfermedad del tejido conectivo por deficiencia de lh3; síndrome de fragilidad ósea-contracturas-ruptura arterial-hipoacusia; síndrome de fragilidad ósea-contracturas-ruptura arterial-sordera","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":"Connective tissue disorder due to lysyl hydroxylase-3 deficiency is a rare, genetic disease, caused by lack of lysyl hydrohylase 3 (LH3) activity, characterized by multiple tissue and organ involvement, including skeletal abnormalities (club foot, progressive scoliosis, osteopenia, pathologic fractures), ocular involvement (flat retinae, myopia, cataracts) and hair, nail and skin anomalies (coarse, abnormally distributed hair, skin blistering, reduced palmar creases, hypoplastic nails). Patients also present intrauterine growth retardation, facial dysmorphism (flat facial profile, low-set ears, shallow orbits, short and upturned nose, downturned corners of mouth) and joint flexion contractures. Growth and developmental delay, bilateral sensorineural deafness, friable diaphragm and later-onset spontaneous vascular ruptures are additional reported features.","Curated_Disease_Description_Source__c":"MONDO:0012892","GARD_Synonym__c":"bcard syndrome; bone abnormalities, cataract, arterial rupture, and deafness; bone fragility-contractures-arterial rupture-deafness syndrome; bone fragility-contractures-arterial rupture-hearing loss syndrome; connective tissue disorder due to lh3 deficiency; connective tissue disorder due to lysyl hydroxylase-3 deficiency; lh3 deficiency; lysyl hydroxylase 3 deficiency","Name":"Bone fragility with contractures, arterial rupture, and deafness","Curated_USA_Estimate__c":"1,000","estimateUsa":"1,000"}],"GARD_Disease_Tag__c":[{"Tag_Name__c":"Genetics","Tag_Category__c":"Cause;Disease Category;Specialist","category_description":"Genetic diseases affect the DNA, or genetic instructions, which directs how tissues, organs, and body systems function.","curated_tag_name":"Genetic diseases"},{"Tag_Name__c":"Rheumatology","Tag_Category__c":"Specialist"},{"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":"Pediatrics","Tag_Category__c":"Specialist"}],"Age_At_Onset__c":[{"Age_At_Onset__c":"Neonatal","Provided_By__c":"ORPHA:300284"},{"Age_At_Onset__c":"Antenatal","Provided_By__c":"ORPHA:300284"}],"External_Identifier_Disease__c":[{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=382811","Source__c":"C2676285","Xref__c":"MEDGEN:382811"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C567320","Source__c":"MONDO:0012892","Xref__c":"C567320"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=763318007","Source__c":"MONDO:0012892","Xref__c":"763318007"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C2676285","Source__c":"C2676285","Xref__c":"C2676285"},{"URL__c":"https://www.orpha.net/en/disease/detail/300284","Source__c":"C2676285; MONDO:0012892","Xref__c":"ORPHA:300284"},{"URL__c":"https://www.omim.org/entry/612394","Source__c":"C2676285; MONDO:0012892; ORPHA:300284","Xref__c":"OMIM:612394"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0012892","Source__c":"GARD:0017362","Xref__c":"MONDO:0012892"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"PLOD3","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["Autosomal recessive"],"GARD_Disease_Feature__c":[{"Provided_By__c":"OMIM:612394","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":"OMIM:612394","HPO_Frequency__c":"Very frequent (80-99%)","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":"OMIM:612394","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"A congenital failure of muscular development of part or all of one or both hemidiaphragms, resulting in superior displacement of abdominal viscera and altered lung development.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0009110","HPO_Name__c":"Diaphragmatic eventration","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:612394","HPO_Frequency__c":"Very frequent (80-99%)","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":"OMIM:612394","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"A cavity within the cerebral hemisphere, filled with cerebrospinal fluid, that communicates directly with the ventricular system.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002132","HPO_Synonym__c":"Cavity within brain","HPO_Name__c":"Porencephalic cyst","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:612394","HPO_Frequency__c":"Very frequent (80-99%)","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":"OMIM:612394","HPO_Frequency__c":"Very frequent (80-99%)","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"}},{"Provided_By__c":"OMIM:612394","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Distance from nasion to subnasale more than two standard deviations below the mean, or alternatively, an apparently decreased length from the nasal root to the nasal tip.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003196","HPO_Synonym__c":"Decreased length of nose; Hypoplastic nose; Nasal hypoplasia; Short nose; Shortened nose","HPO_Name__c":"Short nose","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:612394","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Sudden breakage of an artery leading to leakage of blood from the circulation.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0025019","HPO_Name__c":"Arterial rupture","Feature_System__c":"Cardiovascular System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:612394","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"The presence of a localized dilatation or ballooning of a cerebral artery.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0004944","HPO_Name__c":"Dilatation of the cerebral artery","Feature_System__c":"Nervous System; Cardiovascular System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:612394","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Upper insertion of the ear to the scalp below an imaginary horizontal line drawn between the inner canthi of the eye and extending posteriorly to the ear.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000369","HPO_Synonym__c":"Low set ears; Low-set ears; Low-set pinnae; Lowset ears; Melotia","HPO_Name__c":"Low-set ears","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:612394","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"An abnormality of refraction characterized by the ability to see objects nearby clearly, while objects in the distance appear blurry.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000545","HPO_Synonym__c":"Close sighted; Near sighted; Near sightedness; Nearsightedness","HPO_Name__c":"Myopia","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:612394","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Reduced depth of the orbits associated with prominent-appearing ocular globes.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000586","HPO_Synonym__c":"Decreased depth of eye sockets; Decreased depth of orbits; Shallow eye sockets; Small shallow orbits","HPO_Name__c":"Shallow orbits","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:612394","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"An elbow contracture that limits the ability of the elbow joint to be extended (straightened), meaning that the elbow is fixed in an flexed (bent) position.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002987","HPO_Synonym__c":"Elbow flexion contractures; Elbow flexion deformity; Fixed flexion at the elbow joint","HPO_Name__c":"Elbow flexion contracture","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:612394","HPO_Frequency__c":"Very frequent (80-99%)","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":"OMIM:612394","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Osteopenia is a term to define bone density that is not normal but also not as low as osteoporosis. By definition from the World Health Organization osteopenia is defined by bone densitometry as a T score -1 to -2.5.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000938","HPO_Synonym__c":"Generalized osteopenia","HPO_Name__c":"Osteopenia","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:612394","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Underdevelopment of the malar prominence of the jugal bone (zygomatic bone in mammals), appreciated in profile, frontal view, and/or by palpation.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000272","HPO_Synonym__c":"Decreased size of malar bone; Depressed malar region; Flat cheekbone; Malar hypoplasia; Underdevelopment of malar bone; Zygomatic flattening","HPO_Name__c":"Malar flattening","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:612394","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Chronic loss of joint motion of the proximal interphalangeal joint of the 2nd finger due to structural changes in non-bony tissue.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0009540","HPO_Synonym__c":"Camptodactyly of 2nd finger; Camptodactyly of index finger; Camptodactyly of second finger","HPO_Name__c":"Contracture of the proximal interphalangeal joint of the 2nd finger","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:612394","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Wasting of thenar muscles, which are located on palm of the hand at the base of the thumb.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003393","HPO_Synonym__c":"Thenar atrophy","HPO_Name__c":"Thenar muscle atrophy","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:612394","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Underdevelopment of the proximal epiphysis of the femur.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003090","HPO_Synonym__c":"Small capital femoral epiphyses; Small femoral capital epiphyses; Small innermost thighbone end part; Small proximal femoral epiphyses; Underdevelopment of the innermost thighbone end part","HPO_Name__c":"Hypoplasia of the capital femoral epiphysis","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:612394","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"An increase in size of the ventricular system of the brain.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002119","HPO_Synonym__c":"Cerebral ventricular dilatation; Dilated cerebral ventricle; Dilated cerebral ventricles; Dilated ventricles; Enlarged cerebral ventricles; Enlarged ventricles; Enlarged ventricular system; Large cerebral ventricles and cisternae; Ventricular dilatation","HPO_Name__c":"Ventriculomegaly","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:612394","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"A morphological abnormality of the mouth in which the angle of the mouth is downturned. The oral commissures are positioned inferior to the midline labial fissure.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002714","HPO_Synonym__c":"Downturned corners of mouth; Downturned corners of the mouth; Downturned mouth; Downturned oral commisures","HPO_Name__c":"Downturned corners of mouth","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:612394","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"The presence of developmental dysplasia of the nail.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002164","HPO_Synonym__c":"Atypical nail growth; Dysplastic nails; Onychodysplasia","HPO_Name__c":"Nail dysplasia","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:612394","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Chronic loss of joint motion of the proximal interphalangeal joint of the 3rd finger due to structural changes in non-bony tissue.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0009471","HPO_Synonym__c":"Camptodactyly of the 3rd finger; Camptodactyly of the third finger","HPO_Name__c":"Contracture of the proximal interphalangeal joint of the 3rd finger","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:612394","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Absence of concavity or convexity of the face when viewed in profile.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0012368","HPO_Synonym__c":"Flat face; Flat facial profile; Flat facial shape; Flat facies","HPO_Name__c":"Flat face","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:612394","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Hair shafts are rough in texture.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002208","HPO_Synonym__c":"Coarse hair; Coarse hair texture","HPO_Name__c":"Coarse hair","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:612394","HPO_Frequency__c":"Very frequent (80-99%)","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":"OMIM:612394","HPO_Frequency__c":"Very frequent (80-99%)","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":"OMIM:612394","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"A marked tapering of the lower face to the chin.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000307","HPO_Synonym__c":"Pointed chin; Pointed mention region; Pointy chin; Small pointed chin; Witch's chin","HPO_Name__c":"Pointed chin","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:612394","HPO_Frequency__c":"Very frequent (80-99%)","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":"OMIM:612394","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Poorly defined or shallow palmar creases.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0006184","HPO_Synonym__c":"Hypoplastic palmar creases; Poorly formed palmar creases; Shallow palm line; Shallow palmar creases","HPO_Name__c":"Decreased palmar creases","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:612394","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"A deformity of the sella turcica whereby the sella extends further anterior than normal such that the anterior clinoid process appears to overhang it, giving the appearance of the letter J on imaging of the skull.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002680","HPO_Synonym__c":"Hour glass shaped hypophysial fossa; Hour glass shaped pituitary fossa; Hour glass shaped sella turcica; J-shaped sella; Omega shaped sella turcica","HPO_Name__c":"J-shaped sella turcica","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:612394","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Bilateral clubfoot deformity.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001776","HPO_Synonym__c":"Bilateral clubfeet; Bilateral clubfoot; Club foot on both sides","HPO_Name__c":"Bilateral talipes equinovarus","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:612394","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"A pathologic fracture occurs when a bone breaks in an area that is weakened secondarily to another disease process such as tumor, infection, and certain inherited bone disorders. A pathologic fracture can occur without a degree of trauma required to cause fracture in healthy bone.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002756","HPO_Synonym__c":"Spontaneous fracture","HPO_Name__c":"Pathologic fracture","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:612394","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"A finger resting on the dorsal surface of an adjacent digit when the hand is at rest.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0010557","HPO_Name__c":"Overlapping fingers","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}}],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics","Congenital Abnormality"],"Specialist":["Genetics","Rheumatology","Orthopedics","Otolaryngology","Pediatrics"]},"synonyms":["bcard syndrome"," bone abnormalities, cataract, arterial rupture, and deafness"," bone fragility-contractures-arterial rupture-deafness syndrome"," bone fragility-contractures-arterial rupture-hearing loss syndrome"," connective tissue disorder due to lh3 deficiency"," connective tissue disorder due to lysyl hydroxylase-3 deficiency"," lh3 deficiency"," lysyl hydroxylase 3 deficiency"]}