{"Name":"Griscelli syndrome type 3","DiseaseID__c":"GARD:0009715","id":9715,"encodedName":"griscelli-syndrome-type-3","IsDeleted":false,"Disease_Name_Full__c":"Griscelli syndrome type 3","Xref_IDs__c":"1254947002; C1836573; C537303; DOID:0060834; MEDGEN:373124; MONDO:0012220; OMIM:609227; ORPHA:79478","USA_Estimate__c":"1,000","No_of_Specialist_Tagsa__c":6,"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":2,"Disease_Characteristics_Score__c":7,"No_of_Age_at_Onset__c":1,"Description_Source__c":"MONDO:0012220","Disease_Description__c":"A Griscelli syndrome characterized by isolated silvery gray sheen of the hair and hypopigmentation of the skin that has material basis in mutation in the MLPH or MYO5A genes.","GARD_Name__c":"Griscelli syndrome type 3","GARD_Synonym__c":"griscelli-pruniéras syndrome type 3; gs3; hypopigmentation-immunodeficiency disease type 3","Curated_Disease_Description_Source__c":"MONDO:0012220","Curated_Disease_Description__c":"A Griscelli syndrome characterized by isolated silvery gray sheen of the hair and hypopigmentation of the skin that has material basis in mutation in the MLPH or MYO5A genes.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"1,000","Age_at_Onset_Snippet_Text__c":"as a Child","SourceID__c":"ORPHA:79478","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0012220","ORPHANET_ID__c":"ORPHA:79478","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Síndrome de griscelli tipo 3","Spanish_Description_Source__c":null,"Spanish_Description__c":null,"Spanish_Disease_Name__c":"síndrome de griscelli tipo 3","Spanish_GARD_Synonym__c":"síndrome de griscelli-pruniéras tipo 3","Category_Linearization__c":"ORPHA:89826","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 Griscelli syndrome characterized by isolated silvery gray sheen of the hair and hypopigmentation of the skin that has material basis in mutation in the MLPH or MYO5A genes.","Curated_Disease_Description_Source__c":"MONDO:0012220","GARD_Synonym__c":"griscelli-pruniéras syndrome type 3; gs3; hypopigmentation-immunodeficiency disease type 3","Name":"Griscelli syndrome type 3","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":"Ophthalmology","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":"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":"Childhood","Provided_By__c":"ORPHA:79478"}],"Diagnosis__c":[{"Type__c":"GTR","Curie__c":"MEDGEN:C1836573"}],"External_Identifier_Disease__c":[{"URL__c":"https://raresource.nih.gov/diseases/filter/0009715","Source__c":"RareSource"},{"URL__c":"https://www.orpha.net/en/disease/detail/79478","Source__c":"C1836573; MONDO:0012220; ORPHA:79478","Xref__c":"ORPHA:79478"},{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A0060834","Source__c":"MONDO:0012220","Xref__c":"DOID:0060834"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=373124","Source__c":"C1836573","Xref__c":"MEDGEN:373124"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C537303","Source__c":"MONDO:0012220","Xref__c":"C537303"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C1836573","Source__c":"C1836573","Xref__c":"C1836573"},{"URL__c":"https://www.omim.org/entry/609227","Source__c":"C1836573; MONDO:0012220; ORPHA:79478","Xref__c":"OMIM:609227"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=1254947002","Source__c":"C1836573","Xref__c":"1254947002"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0012220","Source__c":"GARD:0009715","Xref__c":"MONDO:0012220"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"MLPH","GHR_URL__c":"https://medlineplus.gov/genetics/gene/mlph","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["Autosomal recessive"],"GARD_Disease_Feature__c":[{"Provided_By__c":"ORPHA:79478","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"An abnormal reduction in the amount of pigmentation of the iris.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0007730","HPO_Synonym__c":"Light eye color; Reduced iris pigmentation","HPO_Name__c":"Iris hypopigmentation","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:79478","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Absence of melanin pigment in various areas, which is found at birth and is permanent. The lesions are known as leucoderma and are often found on the face, trunk, or limbs.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0007443","HPO_Synonym__c":"Congenital partial albinism on face, trunk, or limbs; Congenital partial leucoderma; Partial absent skin pigmentation","HPO_Name__c":"Partial albinism","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:79478","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0005599","HPO_Synonym__c":"Hair hypopigmentation; Loss of hair color","HPO_Name__c":"Hypopigmentation of hair","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}}],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics","Neurology","Dermatology"],"Specialist":["Genetics","Neurology","Ophthalmology","Dermatology","Neurodevelopmental disabilities","Pediatrics"],"Account":["Dermatology"]},"synonyms":["griscelli-pruniéras syndrome type 3"," gs3"," hypopigmentation-immunodeficiency disease type 3"]}