{"Name":"Osteosclerosis-ichthyosis-premature ovarian failure syndrome","DiseaseID__c":"GARD:0009904","id":9904,"encodedName":"osteosclerosis-ichthyosis-premature-ovarian-failure-syndrome","IsDeleted":false,"Disease_Name_Full__c":"Osteosclerosis-ichthyosis-premature ovarian failure syndrome","Xref_IDs__c":"722114007; C1864942; C536064; MEDGEN:355875; MONDO:0012387; OMIM:609993; ORPHA:75325","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":2,"Description_Source__c":"MONDO:0012387","Disease_Description__c":"A rare genetic disease characterized by sclerosing dysplasia affecting the diaphyseal and metaphyseal regions of the long bones, as well as the skull and metacarpals, in association with skin changes like those seen in ichthyosis vulgaris and premature ovarian failure with bilateral hypoplasia of the ovaries. Patients present in adulthood, primarily with swelling of the extremities and occasional mild pain in the legs.","GARD_Name__c":"Osteosclerosis-ichthyosis-premature ovarian failure syndrome","GARD_Synonym__c":"osteosclerosis with ichthyosis and premature ovarian failure; sclerosing dysplasia of bone with ichthyosis and premature ovarian failure; sclerosing dysplasia of bone-ichthyosis-premature ovarian failure syndrome","Curated_Disease_Description_Source__c":"MONDO:0012387","Curated_Disease_Description__c":"A rare genetic disease characterized by sclerosing dysplasia affecting the diaphyseal and metaphyseal regions of the long bones, as well as the skull and metacarpals, in association with skin changes like those seen in ichthyosis vulgaris and premature ovarian failure with bilateral hypoplasia of the ovaries. Patients present in adulthood, primarily with swelling of the extremities and occasional mild pain in the legs.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"1,000","Age_at_Onset_Snippet_Text__c":"as a Teenager and as an Adult","SourceID__c":"ORPHA:75325","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0012387","ORPHANET_ID__c":"ORPHA:75325","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Síndrome de osteosclerosis-ictiosis-fallo ovárico prematuro","Spanish_Description_Source__c":"ORPHA:75325","Spanish_Description__c":"Es una enfermedad de base genética poco frecuente caracterizada por displasia esclerosante que afecta las regiones diafisaria y metafisaria de los huesos largos, así como al cráneo y a los metacarpianos, acompañada de alteraciones cutáneas como las observadas en la ictiosis vulgar e insuficiencia ovárica precoz con hipoplasia ovárica bilateral. Las pacientes se presentan en la edad adulta, principalmente con hinchazón de las extremidades y leve dolor ocasional en las piernas.","Spanish_Disease_Name__c":"síndrome de osteosclerosis-ictiosis-fallo ovárico prematuro","Spanish_GARD_Synonym__c":"displasia esclerosante de esqueleto-ictiosis-fallo ovárico prematuro; displasia esclerosante del hueso-ictiosis-fallo ovárico prematuro","Category_Linearization__c":"ORPHA:93419","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 genetic disease characterized by sclerosing dysplasia affecting the diaphyseal and metaphyseal regions of the long bones, as well as the skull and metacarpals, in association with skin changes like those seen in ichthyosis vulgaris and premature ovarian failure with bilateral hypoplasia of the ovaries. Patients present in adulthood, primarily with swelling of the extremities and occasional mild pain in the legs.","Curated_Disease_Description_Source__c":"MONDO:0012387","GARD_Synonym__c":"osteosclerosis with ichthyosis and premature ovarian failure; sclerosing dysplasia of bone with ichthyosis and premature ovarian failure; sclerosing dysplasia of bone-ichthyosis-premature ovarian failure syndrome","Name":"Osteosclerosis-ichthyosis-premature ovarian failure syndrome","Curated_USA_Estimate__c":"1,000","estimateUsa":"1,000"}],"Organization_Supported_Diseases__c":[{"Account_Name__c":"Foundation for Ichthyosis and Related Skin Types","Website__c":"https://www.firstskinfoundation.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":"Endocrine","Tag_Category__c":"Disease Category;Specialist","category_description":"Endocrine diseases affect hormone production or how the body responds to a specific hormone(s).","curated_tag_name":"Endocrine diseases"},{"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":"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":"Urogenital Disorders","Tag_Category__c":"Disease Category","category_description":"Urinary and reproductive diseases affect the kidneys, ureters, bladder, urethra, or the reproductive organs.","curated_tag_name":"Urinary and reproductive diseases"},{"Tag_Name__c":"Orthopedics","Tag_Category__c":"Specialist"},{"Tag_Name__c":"Obstetrics / Gynecology","Tag_Category__c":"Specialist"},{"Tag_Name__c":"Infertility","Tag_Category__c":"Account","curated_tag_name":"Infertility"},{"Tag_Name__c":"Ichthyosis","Tag_Category__c":"Account","curated_tag_name":"Ichthyosis"},{"Tag_Name__c":"Pediatrics","Tag_Category__c":"Specialist"}],"Age_At_Onset__c":[{"Age_At_Onset__c":"Adult","Provided_By__c":"ORPHA:75325"},{"Age_At_Onset__c":"Adolescent","Provided_By__c":"ORPHA:75325"}],"External_Identifier_Disease__c":[{"URL__c":"https://www.omim.org/entry/609993","Source__c":"C1864942; MONDO:0012387; ORPHA:75325","Xref__c":"OMIM:609993"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C536064","Source__c":"MONDO:0012387","Xref__c":"C536064"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=355875","Source__c":"C1864942","Xref__c":"MEDGEN:355875"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=722114007","Source__c":"MONDO:0012387","Xref__c":"722114007"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C1864942","Source__c":"C1864942","Xref__c":"C1864942"},{"URL__c":"https://www.orpha.net/en/disease/detail/75325","Source__c":"C1864942; MONDO:0012387","Xref__c":"ORPHA:75325"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0012387","Source__c":"GARD:0009904","Xref__c":"MONDO:0012387"}],"GARD_Disease_Feature__c":[{"Provided_By__c":"ORPHA:75325","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"An abnormality of the skin characterized the presence of excessive amounts of dry surface scales on the skin resulting from an abnormality of keratinization.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0008064","HPO_Synonym__c":"Ichthyosiform abnormality of the skin; Ichthyotic skin","HPO_Name__c":"Ichthyosis","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:75325","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"An abnormal accumulation of excess fluid in the lower extremity resulting in swelling of the feet and extending upward to the lower leg.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0010741","HPO_Synonym__c":"Edema of the lower limbs; Fluid accumulation in lower limbs; Leg edema; Lower leg swelling; Peripheral edema of lower extremity","HPO_Name__c":"Pedal edema","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:75325","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Amenorrhea due to loss of ovarian function before the age of 40. Primary ovarian insuficiency (POI) is a state of female hypergonadotropic hypogonadism. It can manifest as primary amenorrhea with onset before menarche or secondary amenorrhea.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0008209","HPO_Synonym__c":"Climacterium praecox; Early menopause; Hypergonadotropic amenorrhea; Menopause praecox; Premature menopause; Premature ovarian failure; Primary ovarian insufficiency","HPO_Name__c":"Premature ovarian insufficiency","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:75325","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"An abnormal increase of bone mineral density, that is, of the amount of matter per cubic centimeter of bones which is often referred to as osteosclerosis. Osteosclerosis can be detected on radiological examination as an increased whiteness (density) of affected bones.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0011001","HPO_Synonym__c":"Increased bone density; Increased bone mineral density; Osteosclerosis; Osteosclerosis of bones","HPO_Name__c":"Increased bone mineral density","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}}],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics","Endocrine","Dermatology","Congenital Abnormality","Urogenital Disorders"],"Specialist":["Genetics","Endocrine","Dermatology","Orthopedics","Obstetrics / Gynecology","Pediatrics"],"Account":["Dermatology","Infertility","Ichthyosis"]},"synonyms":["osteosclerosis with ichthyosis and premature ovarian failure"," sclerosing dysplasia of bone with ichthyosis and premature ovarian failure"," sclerosing dysplasia of bone-ichthyosis-premature ovarian failure syndrome"]}