{"Name":"Autosomal recessive osteopetrosis 2","DiseaseID__c":"GARD:0004157","id":4157,"encodedName":"autosomal-recessive-osteopetrosis-2","IsDeleted":false,"Disease_Name_Full__c":"Autosomal recessive osteopetrosis 2","Xref_IDs__c":"C1850126; C536059; DOID:0110943; MEDGEN:342420; MONDO:0009816; OMIM:259710","USA_Estimate__c":null,"No_of_Specialist_Tagsa__c":0,"No_of_ClinGen_records__c":0,"No_of_GeneReviews__c":0,"No_of_HHS_records__c":0,"World_Estimate__c":null,"No_of_HRSA_records__c":0,"Evidence_Based_Score__c":0,"No_of_Disease_Descriptions__c":1,"Disease_Characteristics_Score__c":3,"No_of_Age_at_Onset__c":0,"Description_Source__c":"MONDO:0009816","Disease_Description__c":"Any autosomal recessive malignant osteopetrosis in which the cause of the disease is a mutation in the TNFSF11 gene.","GARD_Name__c":"Autosomal recessive osteopetrosis 2","GARD_Synonym__c":"autosomal recessive malignant osteopetrosis caused by mutation in tnfsf11; autosomal recessive osteopetrosis caused by mutation in tnfsf11; autosomal recessive osteopetrosis type 2; mild autosomal recessive form osteopetrosis; optb2; osteoclast-poor osteopetrosis; osteopetrosis, autosomal recessive type 2; osteopetrosis, mild autosomal recessive form; tnfsf11 autosomal recessive malignant osteopetrosis; tnfsf11 autosomal recessive osteopetrosis; tnfsf11-related autosomal recessive osteopetrosis; tnfsf11-related osteopetrosis","Curated_Disease_Description_Source__c":"MONDO:0009816","Curated_Disease_Description__c":"Any autosomal recessive malignant osteopetrosis in which the cause of the disease is a mutation in the TNFSF11 gene.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":null,"Age_at_Onset_Snippet_Text__c":null,"SourceID__c":"OMIM:259710","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0009816","ORPHANET_ID__c":null,"Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":null,"Spanish_Description_Source__c":null,"Spanish_Description__c":null,"Spanish_Disease_Name__c":null,"Spanish_GARD_Synonym__c":null,"Category_Linearization__c":null,"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":"Any autosomal recessive malignant osteopetrosis in which the cause of the disease is a mutation in the TNFSF11 gene.","Curated_Disease_Description_Source__c":"MONDO:0009816","GARD_Synonym__c":"autosomal recessive malignant osteopetrosis caused by mutation in tnfsf11; autosomal recessive osteopetrosis caused by mutation in tnfsf11; autosomal recessive osteopetrosis type 2; mild autosomal recessive form osteopetrosis; optb2; osteoclast-poor osteopetrosis; osteopetrosis, autosomal recessive type 2; osteopetrosis, mild autosomal recessive form; tnfsf11 autosomal recessive malignant osteopetrosis; tnfsf11 autosomal recessive osteopetrosis; tnfsf11-related autosomal recessive osteopetrosis; tnfsf11-related osteopetrosis","Name":"Autosomal recessive osteopetrosis 2","estimateUsa":""}],"Organization_Supported_Diseases__c":[{"Account_Name__c":"Osteopetrosis Support Trust","Website__c":"https://www.osteopetrosis-support-trust.org.uk/"}],"External_Identifier_Disease__c":[{"URL__c":"https://raresource.nih.gov/diseases/filter/0004157","Source__c":"RareSource"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=342420","Source__c":"C1850126","Xref__c":"MEDGEN:342420"},{"URL__c":"https://www.omim.org/entry/259710","Source__c":"C1850126; MONDO:0009816","Xref__c":"OMIM:259710"},{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A0110943","Source__c":"MONDO:0009816","Xref__c":"DOID:0110943"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C1850126","Source__c":"C1850126","Xref__c":"C1850126"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C536059","Source__c":"MONDO:0009816","Xref__c":"C536059"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0009816","Source__c":"GARD:0004157","Xref__c":"MONDO:0009816"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"TNFSF11","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["Autosomal recessive"],"GARD_Disease_Feature__c":[{"Provided_By__c":"OMIM:259710","Feature__r":{"HPO_Description__c":"Osteomyelitis of the lower jaw.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0007626","HPO_Synonym__c":"Lower jaw bone infection; Osteomyelitis, especially of the mandible","HPO_Name__c":"Mandibular osteomyelitis","Feature_System__c":"Musculoskeletal System; Immune System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:259710","Feature__r":{"HPO_Description__c":"An elevation in bone density in one or more diaphyses. Sclerosis is normally detected on a radiograph as an area of increased opacity.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003034","HPO_Synonym__c":"Craniodiaphyseal osteosclerosis; Diaphyseal osteosclerosis; Increased bone density in shaft of long bone","HPO_Name__c":"Diaphyseal sclerosis","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:259710","Feature__r":{"HPO_Description__c":"Complete loss of ability to move facial muscles innervated by the facial nerve (i.e., the seventh cranial nerve).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0007209","HPO_Synonym__c":"Facial paralysis; Facial paresis","HPO_Name__c":"Facial paralysis","Feature_System__c":"Nervous System; Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:259710","Feature__r":{"HPO_Description__c":"Caries is a multifactorial bacterial infection affecting the structure of the tooth. This term has been used to describe the presence of more than expected dental caries.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000670","HPO_Synonym__c":"Caries; Cariosity of teeth; Dental caries; Dental cavities; Early dental caries; Frequent caries; Tooth cavities; Tooth decay","HPO_Name__c":"Carious teeth","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:259710","Feature__r":{"HPO_Description__c":"The legs angle inward, such that the knees are close together and the ankles far apart.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002857","HPO_Synonym__c":"Genu valga; Genu valgus; Genua valga; Knee joint valgus deformity; Knock knees","HPO_Name__c":"Genu valgum","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:259710","Feature__r":{"HPO_Description__c":"The process of hematopoiesis occurring outside of the bone marrow (in the liver, thymus, and spleen) in the postnatal organisms.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001978","HPO_Name__c":"Extramedullary hematopoiesis","Feature_System__c":"Blood and Blood-Forming Tissue","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:259710","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"The repeated occurrence of bone fractures (implying an abnormally increased tendency for fracture).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002757","HPO_Synonym__c":"Frequent fractures; Increased fracture rate; Increased fractures; Multiple fractures; Multiple spontaneous fractures; Recurrent fractures; Varying degree of multiple fractures","HPO_Name__c":"Recurrent fractures","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:259710","Feature__r":{"HPO_Description__c":"An abnormal reduction in numbers of all blood cell types (red blood cells, white blood cells, and platelets).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001876","HPO_Synonym__c":"Low blood cell count","HPO_Name__c":"Pancytopenia","Feature_System__c":"Blood and Blood-Forming Tissue","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:259710","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Rhythmic, involuntary oscillations of one or both eyes related to abnormality in fixation, conjugate gaze, or vestibular mechanisms.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000639","HPO_Synonym__c":"Involuntary, rapid, rhythmic eye movements","HPO_Name__c":"Nystagmus","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:259710","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Decreased number of osteoclasts in bone tissue.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0030328","HPO_Name__c":"Decreased osteoclast count","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:259710","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Hydrocephalus is an active distension of the ventricular system of the brain resulting from inadequate passage of CSF from its point of production within the cerebral ventricles to its point of absorption into the systemic circulation.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000238","HPO_Synonym__c":"Hydrocephaly; Nonsyndromal hydrocephalus; Too much cerebrospinal fluid in the brain","HPO_Name__c":"Hydrocephalus","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:259710","Feature__r":{"HPO_Description__c":"Persistence of the primary teeth beyond the age by which they normally are shed and replaced by the permanent teeth.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0006335","HPO_Synonym__c":"Deciduous teeth retention; Delayed loss of baby teeth; Delayed loss of deciduous teeth; Delayed loss of primary teeth; Failure to exfoliate deciduous teeth; Failure to exfoliate primary teeth; Failure to lose baby teeth; Persistence of deciduous teeth; Persistent deciduous dentition; Persistent primary dentition; Persistent primary teeth; Retained baby teeth; Retained deciduous teeth; Retained primary teeth","HPO_Name__c":"Persistence of primary teeth","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:259710","Feature__r":{"HPO_Description__c":"Osteomyelitis is an inflammatory process accompanied by bone destruction and caused by an infecting microorganism.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002754","HPO_Synonym__c":"Bone infection","HPO_Name__c":"Osteomyelitis","Feature_System__c":"Musculoskeletal System; Immune System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:259710","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Blindness is the condition of lacking visual perception defined as a profound reduction in visual perception. On the 6m visual acuity scale, blindness is defined as less than 3/60. On the 20ft visual acuity scale, blindness is defined as less than 20/400. On the decimal visual acuity scale, blindness is defined as less than 0.05. Blindness is typically characterized by a visual field of no greater than 10 degrees in radius around central fixation.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000618","HPO_Synonym__c":"Blindness; Total vision loss","HPO_Name__c":"Blindness","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:259710","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001293","HPO_Name__c":"Cranial nerve compression","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:259710","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"A reduction in erythrocytes volume or hemoglobin concentration.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001903","HPO_Synonym__c":"Anaemia; Low number of red blood cells or hemoglobin","HPO_Name__c":"Anemia","Feature_System__c":"Blood and Blood-Forming Tissue","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:259710","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A seizure is an intermittent abnormality of nervous system physiology characterized by a transient occurrence of signs and/or symptoms due to abnormal excessive or synchronous neuronal activity in the brain.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001250","HPO_Synonym__c":"Epileptic seizure; Seizures","HPO_Name__c":"Seizure","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:259710","Feature__r":{"HPO_Description__c":"Atrophy of the optic nerve. Optic atrophy results from the death of the retinal ganglion cell axons that comprise the optic nerve and manifesting as a pale optic nerve on fundoscopy.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000648","HPO_Synonym__c":"Optic nerve atrophy; Optic-nerve degeneration","HPO_Name__c":"Optic atrophy","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:259710","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0004499","HPO_Synonym__c":"Chronic nasal inflammation due to narrow nasal airway","HPO_Name__c":"Chronic rhinitis due to narrow nasal airway","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:259710","Feature__r":{"HPO_Description__c":"A reduction in the number of circulating thrombocytes.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001873","HPO_Synonym__c":"Low platelet count","HPO_Name__c":"Thrombocytopenia","Feature_System__c":"Blood and Blood-Forming Tissue","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:259710","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Simultaneous enlargement of the liver and spleen.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001433","HPO_Synonym__c":"Enlarged liver and spleen","HPO_Name__c":"Hepatosplenomegaly","Feature_System__c":"Cardiovascular System; Immune System; Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:259710","Feature__r":{"HPO_Description__c":"Excessive growth of the bones of cranium, i.e., of the skull.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0004437","HPO_Synonym__c":"Hyperostosis of cranial bones; Hyperostosis of cranial vault; Increased ossification of cranial bones","HPO_Name__c":"Cranial hyperostosis","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:259710","Feature__r":{"HPO_Description__c":"Abnormally increased formation of dense trabecular bone tissue. Despite the increased density of bone tissue, osteopetrotic bones tend to be more fracture-prone than normal.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0011002","HPO_Synonym__c":"Harder, denser, fracture-prone bones","HPO_Name__c":"Osteopetrosis","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:259710","Feature__r":{"HPO_Description__c":"Abnormal prominence of the chin related to increased length of the mandible.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000303","HPO_Synonym__c":"Big lower jaw; Big mandible; Enlarged mandible; Enlargement of mandible; Hyperplasia of lower jaw; Increased projection of lower jaw; Increased projection of mandible; Increased size of lower jaw; Large lower jaw; Large mandible; Lower jaw excess; Lower jaw hyperplasia; Macromandible; Mandible prognathism; Mandibular excess; Mandibular hyperplasia; Mandibular macrognathia; Mandibular prognathism; Prognathia; Prognathism; Prominent chin; Prominent jaw; Prominent lower jaw; Prominent mandible; Relative mandibular prognathism","HPO_Name__c":"Mandibular prognathia","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}}],"tags":{},"synonyms":["autosomal recessive malignant osteopetrosis caused by mutation in tnfsf11"," autosomal recessive osteopetrosis caused by mutation in tnfsf11"," autosomal recessive osteopetrosis type 2"," mild autosomal recessive form osteopetrosis"," optb2"," osteoclast-poor osteopetrosis"," osteopetrosis, autosomal recessive type 2"," osteopetrosis, mild autosomal recessive form"," tnfsf11 autosomal recessive malignant osteopetrosis"," tnfsf11 autosomal recessive osteopetrosis"," tnfsf11-related autosomal recessive osteopetrosis"," tnfsf11-related osteopetrosis"]}