{"Name":"DONSON-related microcephaly-short stature-limb abnormalities spectrum","DiseaseID__c":"GARD:0022314","id":22314,"encodedName":"donson-related-microcephaly-short-stature-limb-abnormalities-spectrum","IsDeleted":false,"Disease_Name_Full__c":"DONSON-related microcephaly-short stature-limb abnormalities spectrum","Xref_IDs__c":"C5681722; MEDGEN:1814482; MONDO:0035534; ORPHA:572761","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":1,"Disease_Characteristics_Score__c":5,"No_of_Age_at_Onset__c":2,"Description_Source__c":"MONDO:0035534","Disease_Description__c":"A rare autosomal recessive microcephalic primordial dwarfism characterized by congenital microcephaly and craniofacial features associated with a spectrum of limb abnormalities ranging from mild to severe. Short stature is frequently observed and often is severe.","GARD_Name__c":"DONSON-related microcephaly-short stature-limb abnormalities spectrum","GARD_Synonym__c":"dna replication fork stabilization factor donson-related microcephaly, short stature, limb abnormalities spectrum; donson-related microcephaly, short stature, limb abnormalities spectrum","Curated_Disease_Description_Source__c":"MONDO:0035534","Curated_Disease_Description__c":"A rare autosomal recessive microcephalic primordial dwarfism characterized by congenital microcephaly and craniofacial features associated with a spectrum of limb abnormalities ranging from mild to severe. Short stature is frequently observed and often is severe.","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:572761","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Grouping","MONDO_ID__c":"MONDO:0035534","ORPHANET_ID__c":"ORPHA:572761","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Espectro de microcefalia-talla baja-anomalías de las extremidades asociado a donson","Spanish_Description_Source__c":"ORPHA:572761","Spanish_Description__c":"Es un tipo de enanismo primordial microcefálico autosómico recesivo poco frecuente caracterizado por microcefalia congénita y rasgos craneofaciales asociados a un espectro de anomalías de las extremidades que van de leves a graves. Es frecuente la talla baja, que suele ser extrema.","Spanish_Disease_Name__c":"espectro de microcefalia-talla baja-anomalías de las extremidades asociado a donson","Spanish_GARD_Synonym__c":null,"Category_Linearization__c":"ORPHA:93890","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":"A rare autosomal recessive microcephalic primordial dwarfism characterized by congenital microcephaly and craniofacial features associated with a spectrum of limb abnormalities ranging from mild to severe. Short stature is frequently observed and often is severe.","Curated_Disease_Description_Source__c":"MONDO:0035534","GARD_Synonym__c":"dna replication fork stabilization factor donson-related microcephaly, short stature, limb abnormalities spectrum; donson-related microcephaly, short stature, limb abnormalities spectrum","Name":"DONSON-related microcephaly-short stature-limb abnormalities spectrum","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":"Neurology","Tag_Category__c":"Disease Category;Specialist","category_description":"Neurological diseases affect the brain, spinal cord, cranial nerves, autonomic nerves, or other peripheral nerves.","curated_tag_name":"Neurological 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":"Neurodevelopmental disabilities","Tag_Category__c":"Specialist","curated_tag_name":"Neurodevelopmental disabilities"},{"Tag_Name__c":"Pediatrics","Tag_Category__c":"Specialist"}],"Age_At_Onset__c":[{"Age_At_Onset__c":"Neonatal","Provided_By__c":"ORPHA:572761"},{"Age_At_Onset__c":"Antenatal","Provided_By__c":"ORPHA:572761"}],"External_Identifier_Disease__c":[{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=1814482","Source__c":"C5681722","Xref__c":"MEDGEN:1814482"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C5681722","Source__c":"C5681722","Xref__c":"C5681722"},{"URL__c":"https://www.orpha.net/en/disease/detail/572761","Source__c":"C5681722; MONDO:0035534; ORPHA:572761","Xref__c":"ORPHA:572761"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=1236845001","Source__c":"C5681722","Xref__c":"1236845001"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0035534","Source__c":"GARD:0022314","Xref__c":"MONDO:0035534"}],"Inheritance__c":["Autosomal recessive"],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics","Neurology","Congenital Abnormality"],"Specialist":["Genetics","Neurology","Orthopedics","Neurodevelopmental disabilities","Pediatrics"]},"synonyms":["dna replication fork stabilization factor donson-related microcephaly, short stature, limb abnormalities spectrum"," donson-related microcephaly, short stature, limb abnormalities spectrum"]}