{"Name":"Hyperostosis interna frontalis","DiseaseID__c":"GARD:0008593","id":8593,"encodedName":"hyperostosis-interna-frontalis","IsDeleted":false,"Disease_Name_Full__c":"Hyperostosis interna frontalis","Xref_IDs__c":"82054006; C0020494; C84772; D006957; MEDGEN:9367; MONDO:0007766; OMIM:144800; ORPHA:77296","USA_Estimate__c":null,"No_of_Specialist_Tagsa__c":2,"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":4,"Disease_Characteristics_Score__c":7,"No_of_Age_at_Onset__c":1,"Description_Source__c":"MONDO:0007766","Disease_Description__c":"A rare cranial malformation characterized by hyperostosis frontalis interna, variably associated with metabolic and endocrine disorders (such as obesity, diabetes mellitus, and hirsutism, among others). Compression by calvarial thickening may lead to cerebral atrophy and present with cognitive impairment, neuropsychiatric symptoms, headaches, and epilepsy. The condition predominantly affects women.","GARD_Name__c":"Hyperostosis interna frontalis","GARD_Synonym__c":"enlargement of the inner surface of the frontal bone; excessive growth of inner surface of the frontal bone; hyperostosis frontalis interna; hyperostosis of the internal surface of the frontal bone; hypertrophy of the internal surface of the frontal bone; increased ossification of the internal surface of the frontal bone; morgagni-stewart-morel syndrome; overgrowth of the inner surface of the frontal bone; overgrowth of the inside of the frontal bone; thick inner surface of the frontal bone; thick internal surface of the frontal bone","Curated_Disease_Description_Source__c":"GARD:0008593","Curated_Disease_Description__c":"Morgagni-Stewart-Morel (MSM) syndrome is characterized by thickening of the frontal bone of the skull (hyperostosis frontalis interna), as well as obesity and excessive hair growth (hypertrichosis). Other signs and symptoms may include seizures, headaches, diabetes insipidus, and sex gland disturbances. The cause of Morgagni-Stewart-Morel syndrome is not fully understood.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":null,"Age_at_Onset_Snippet_Text__c":"as an Adult","SourceID__c":"ORPHA:77296","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0007766","ORPHANET_ID__c":"ORPHA:77296","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Síndrome de morgnagni-stewart-morel","Spanish_Description_Source__c":"ORPHA:77296","Spanish_Description__c":"Es una malformación craneal poco frecuente caracterizada por hiperostosis frontal interna, asociada de forma variable a trastornos metabólicos y endocrinos (tales como obesidad, diabetes mellitus e hirsutismo, entre otros). La compresión resultante del engrosamiento de la calota puede derivar en atrofia cerebral, presentándose con afectación cognitiva, síntomas neuropsiquiátricos, cefaleas y epilepsia. El trastorno afecta predominantemente a mujeres.","Spanish_Disease_Name__c":"síndrome de morgnagni-stewart-morel","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":"Morgagni-Stewart-Morel (MSM) syndrome is characterized by thickening of the frontal bone of the skull (hyperostosis frontalis interna), as well as obesity and excessive hair growth (hypertrichosis). Other signs and symptoms may include seizures, headaches, diabetes insipidus, and sex gland disturbances. The cause of Morgagni-Stewart-Morel syndrome is not fully understood.","Curated_Disease_Description_Source__c":"GARD:0008593","GARD_Synonym__c":"enlargement of the inner surface of the frontal bone; excessive growth of inner surface of the frontal bone; hyperostosis frontalis interna; hyperostosis of the internal surface of the frontal bone; hypertrophy of the internal surface of the frontal bone; increased ossification of the internal surface of the frontal bone; morgagni-stewart-morel syndrome; overgrowth of the inner surface of the frontal bone; overgrowth of the inside of the frontal bone; thick inner surface of the frontal bone; thick internal surface of the frontal bone","Name":"Hyperostosis interna frontalis","estimateUsa":""}],"Organization_Supported_Diseases__c":[{"Account_Name__c":"Alianza Iberoamericana de Enfermedades Raras o Poco Frecuentes","Website__c":"https://aliber.org/web/"},{"Account_Name__c":"Federación Mexicana de Enfermedades Raras (FEMEXER)","Website__c":"http://www.femexer.org/"},{"Account_Name__c":"Federación Española de Enfermedades Raras","Website__c":"https://enfermedades-raras.org/"},{"Account_Name__c":"Federación Colombiana de Enfermedades Raras","Website__c":"http://www.fecoer.org"},{"Account_Name__c":"Federación Argentina de Enfermedades Poco Frecuentes","Website__c":"https://fadepof.org.ar/"},{"Account_Name__c":"Asociación Todos Unidos Enfermedades Raras Uruguay","Website__c":"https://atueru.org.uy/"},{"Account_Name__c":"FACES: The National Craniofacial Association","Website__c":"https://www.faces-cranio.org/"},{"Account_Name__c":"Children's Craniofacial Association","Website__c":"https://ccakids.org/"},{"Account_Name__c":"World Craniofacial Foundation","Website__c":"https://www.worldcf.org/"},{"Account_Name__c":"National Headache Foundation","Website__c":"https://headaches.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":"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"}],"Age_At_Onset__c":[{"Age_At_Onset__c":"Adult","Provided_By__c":"ORPHA:77296"}],"External_Identifier_Disease__c":[{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=9367","Source__c":"C0020494","Xref__c":"MEDGEN:9367"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C006957","Source__c":"C0020494; MONDO:0007766","Xref__c":"D006957"},{"URL__c":"https://evsexplore.semantics.cancer.gov/evsexplore/concept/ncit/C84772","Source__c":"C0020494; MONDO:0007766","Xref__c":"C84772"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=82054006","Source__c":"C0020494; MONDO:0007766","Xref__c":"82054006"},{"URL__c":"https://www.omim.org/entry/144800","Source__c":"C0020494; MONDO:0007766; ORPHA:77296","Xref__c":"OMIM:144800"},{"URL__c":"https://www.orpha.net/en/disease/detail/77296","Source__c":"C0020494; MONDO:0007766; ORPHA:77296","Xref__c":"ORPHA:77296"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C0020494","Source__c":"C0020494","Xref__c":"C0020494"},{"URL__c":"https://hpo.jax.org/browse/term/HP:0004438","Source__c":"C0020494","Xref__c":"HP:0004438"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0007766","Source__c":"GARD:0008593","Xref__c":"MONDO:0007766"}],"Inheritance__c":["Autosomal dominant","X-linked recessive"],"GARD_Disease_Feature__c":[{"Provided_By__c":"ORPHA:77296","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A skin condition in which there is an increase in sebum secretion by the pilosebaceous apparatus associated with open comedones (blackheads), closed comedones (whiteheads), and pustular nodules (papules, pustules, and cysts).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001061","HPO_Synonym__c":"Acne","HPO_Name__c":"Acne","Feature_System__c":"Skin System; Immune System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:77296","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Periods of time during which an individual experiences significant disturbances in their thoughts, perceptions, emotions, and behavior, resulting in a loss of touch with reality. 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