{"Name":"Parana hard-skin syndrome","DiseaseID__c":"GARD:0002598","id":2598,"encodedName":"parana-hard-skin-syndrome","IsDeleted":false,"Disease_Name_Full__c":"Parana hard-skin syndrome","Xref_IDs__c":"C126559; C1850079; C564905; MEDGEN:337964; MONDO:0009838; OMIM:260530; ORPHA:2812","USA_Estimate__c":"1,000","No_of_Specialist_Tagsa__c":3,"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:0009838","Disease_Description__c":"A rare disorder characterized by rigid, thick skin that covers the entire body and affects movements. The movement of the chest and abdomen is severely restricted. Affected individuals develop respiratory insufficiency which may lead to death.","GARD_Name__c":"Parana hard-skin syndrome","GARD_Synonym__c":"hard skin syndrome parana type; hard skin syndrome, parana type; hard-skin syndrome, parana type; parana hard skin syndrome","Curated_Disease_Description_Source__c":"MONDO:0009838","Curated_Disease_Description__c":"A rare disorder characterized by rigid, thick skin that covers the entire body and affects movements. The movement of the chest and abdomen is severely restricted. Affected individuals develop respiratory insufficiency which may lead to death.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"1,000","Age_at_Onset_Snippet_Text__c":"as an Infant","SourceID__c":"ORPHA:2812","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0009838","ORPHANET_ID__c":"ORPHA:2812","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Síndrome de la piel rígida de parana","Spanish_Description_Source__c":null,"Spanish_Description__c":null,"Spanish_Disease_Name__c":"síndrome de la piel rígida de parana","Spanish_GARD_Synonym__c":"síndrome de parana","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 rare disorder characterized by rigid, thick skin that covers the entire body and affects movements. The movement of the chest and abdomen is severely restricted. Affected individuals develop respiratory insufficiency which may lead to death.","Curated_Disease_Description_Source__c":"MONDO:0009838","GARD_Synonym__c":"hard skin syndrome parana type; hard skin syndrome, parana type; hard-skin syndrome, parana type; parana hard skin syndrome","Name":"Parana hard-skin syndrome","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":"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":"Pediatrics","Tag_Category__c":"Specialist"}],"Age_At_Onset__c":[{"Age_At_Onset__c":"Infancy","Provided_By__c":"ORPHA:2812"}],"External_Identifier_Disease__c":[{"URL__c":"https://www.orpha.net/en/disease/detail/2812","Source__c":"C1850079; MONDO:0009838; ORPHA:2812","Xref__c":"ORPHA:2812"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=337964","Source__c":"C1850079","Xref__c":"MEDGEN:337964"},{"URL__c":"https://evsexplore.semantics.cancer.gov/evsexplore/concept/ncit/C126559","Source__c":"C1850079; MONDO:0009838","Xref__c":"C126559"},{"URL__c":"https://www.omim.org/entry/260530","Source__c":"C1850079; MONDO:0009838; ORPHA:2812","Xref__c":"OMIM:260530"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C564905","Source__c":"MONDO:0009838","Xref__c":"C564905"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C1850079","Source__c":"C1850079","Xref__c":"C1850079"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=783013001","Source__c":"C1850079","Xref__c":"783013001"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0009838","Source__c":"GARD:0002598","Xref__c":"MONDO:0009838"}],"Inheritance__c":["Autosomal recessive"],"GARD_Disease_Feature__c":[{"Provided_By__c":"ORPHA:2812","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"The gradual reduction in girth of the finger from proximal to distal.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001182","HPO_Synonym__c":"Distally tapering fingers; Tapered finger; Tapered fingertips; Tapering fingers","HPO_Name__c":"Tapered finger","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2812","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A height below that which is expected according to age and sex norms. Although there is no universally accepted definition of short stature, many refer to \\\"short stature\\\" as height more than 2 standard deviations below the mean for age and sex (or below the 3rd percentile for age and sex dependent norms).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0004322","HPO_Synonym__c":"Decreased body height; Height less than 3rd percentile; Short stature; Small stature; Stature below 3rd percentile","HPO_Name__c":"Short stature","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2812","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002093","HPO_Synonym__c":"Respiratory impairment","HPO_Name__c":"Respiratory insufficiency","Feature_System__c":"Respiratory system","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2812","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0006596","HPO_Synonym__c":"Restricted chest movement","HPO_Name__c":"Restricted chest movement","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2812","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Abnormally increased hair growth over much of the entire body.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002230","HPO_Synonym__c":"Excessive hairiness over body","HPO_Name__c":"Generalized hirsutism","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2812","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"A deficiency or slowing down of growth pre- and postnatally.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001510","HPO_Synonym__c":"Delayed growth; Growth deficiency; Growth delay; Growth failure; Growth retardation; Poor growth; Retarded growth","HPO_Name__c":"Growth delay","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2812","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Laminar thickening of skin.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001072","HPO_Synonym__c":"Pachydermia; Thick skin; Thickened skin","HPO_Name__c":"Thickened skin","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2812","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A deformity of the chest caused by overgrowth of the ribs and characterized by protrusion of the sternum.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000768","HPO_Synonym__c":"Pigeon chest","HPO_Name__c":"Pectus carinatum","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2812","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A larger than usual distance between the left and right nipple.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0006610","HPO_Synonym__c":"Wide-spaced nipples; Widely spaced nipples; Widely-spaced nipples","HPO_Name__c":"Wide intermamillary distance","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2812","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0007440","HPO_Name__c":"Generalized hyperpigmentation","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2812","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Hyperkeratosis is a histopathological term defining a thickened stratum corneum and may be present in many different skin conditions, with many possible overlaps. Hyperkeratosis refers to the increased thickness of the stratum corneum, the outer layer of the skin. Hyperkeratosis is subclassified as orthokeratotic or parakeratotic. Orthokeratotic hyperkeratosis refers to the thickening of the keratin layer with preserved keratinocyte maturation, while parakeratotic hyperkeratosis shows retained nuclei as a sign of delayed maturation of keratinocytes.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000962","HPO_Synonym__c":"Epidermal hyperkeratosis","HPO_Name__c":"Hyperkeratosis","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2812","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"The facial appearance is more circular than usual as viewed from the front.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000311","HPO_Synonym__c":"Circular face; Round face; Round facial appearance; Round facial shape; Round facies","HPO_Name__c":"Round face","HPO_Feature_Type__c":"Symptom"}}],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics","Dermatology"],"Specialist":["Genetics","Dermatology","Pediatrics"],"Account":["Dermatology"]},"synonyms":["hard skin syndrome parana type"," hard skin syndrome, parana type"," hard-skin syndrome, parana type"," parana hard skin syndrome"]}