{"Name":"Haim-Munk syndrome","DiseaseID__c":"GARD:0000044","id":44,"encodedName":"haim-munk-syndrome","IsDeleted":false,"Disease_Name_Full__c":"Haim-Munk syndrome","Xref_IDs__c":"719973009; C1855627; C537627; MEDGEN:344539; MONDO:0009491; OMIM:245010; ORPHA:2342","USA_Estimate__c":"1,000","No_of_Specialist_Tagsa__c":4,"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:0009491","Disease_Description__c":"Haim-Munk syndrome (HMS) is characterized by palmoplantar hyperkeratosis, severe early-onset periodontitis, onychogryposis, pes planus, arachnodactyly and acroosteolysis.","GARD_Name__c":"Haim-Munk syndrome","GARD_Synonym__c":"cochin jewish disorder; haim munk syndrome; hms; keratosis palmoplantaris with periodontopathia and onychogryposis; keratosis palmoplantaris with periodontopathia and onychogryposis syndrome; keratosis palmoplantaris-periodontopathia-onychogryposis syndrome; palmoplantar hyperkeratosis-periodontopathia-onychogryposis syndrome; palmoplantar keratoderma-periodontopathia-onychogryposis syndrome","Curated_Disease_Description_Source__c":"MONDO:0009491","Curated_Disease_Description__c":"Haim-Munk syndrome (HMS) is characterized by palmoplantar hyperkeratosis, severe early-onset periodontitis, onychogryposis, pes planus, arachnodactyly and acroosteolysis.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"1,000","Age_at_Onset_Snippet_Text__c":"as an Infant and as a Child","SourceID__c":"ORPHA:2342","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0009491","ORPHANET_ID__c":"ORPHA:2342","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Síndrome de haim-munk","Spanish_Description_Source__c":"ORPHA:2342","Spanish_Description__c":"El síndrome de Haim-Munk (SHM) se caracteriza por: hiperqueratosis palmoplantar, periodontitis grave de aparición temprana, onicogriposis, pies plano, aracnodactilia y acroosteolisis.","Spanish_Disease_Name__c":"síndrome de haim-munk","Spanish_GARD_Synonym__c":"hiperqueratosis palmoplantar-periodontopatía-onicogriposis; queratodermia palmoplantar-periodontopatía-onicogriposis; queratosis palmoplantar-periodontopatía-onicogriposis","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":"Haim-Munk syndrome (HMS) is characterized by palmoplantar hyperkeratosis, severe early-onset periodontitis, onychogryposis, pes planus, arachnodactyly and acroosteolysis.","Curated_Disease_Description_Source__c":"MONDO:0009491","GARD_Synonym__c":"cochin jewish disorder; haim munk syndrome; hms; keratosis palmoplantaris with periodontopathia and onychogryposis; keratosis palmoplantaris with periodontopathia and onychogryposis syndrome; keratosis palmoplantaris-periodontopathia-onychogryposis syndrome; palmoplantar hyperkeratosis-periodontopathia-onychogryposis syndrome; palmoplantar keratoderma-periodontopathia-onychogryposis syndrome","Name":"Haim-Munk syndrome","Curated_USA_Estimate__c":"1,000","estimateUsa":"1,000"}],"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/"}],"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":"Inborn Errors of Metabolism","Tag_Category__c":"Cause;Disease Category","category_description":"Inherited metabolic diseases, or inborn errors of metabolism, are a group of genetic diseases that affect the ability of the body's cells to convert food into energy.","curated_tag_name":"Inherited metabolic 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":"Odontology","Tag_Category__c":"Specialist"},{"Tag_Name__c":"Pediatrics","Tag_Category__c":"Specialist"}],"Age_At_Onset__c":[{"Age_At_Onset__c":"Childhood","Provided_By__c":"ORPHA:2342"},{"Age_At_Onset__c":"Infancy","Provided_By__c":"ORPHA:2342"}],"Diagnosis__c":[{"Type__c":"GTR","Curie__c":"MEDGEN:C1855627"}],"External_Identifier_Disease__c":[{"URL__c":"https://raresource.nih.gov/diseases/filter/0000044","Source__c":"RareSource"},{"URL__c":"https://www.omim.org/entry/245010","Source__c":"C1855627; MONDO:0009491; ORPHA:2342","Xref__c":"OMIM:245010"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C537627","Source__c":"MONDO:0009491","Xref__c":"C537627"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C1855627","Source__c":"C1855627","Xref__c":"C1855627"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=719973009","Source__c":"C1855627; MONDO:0009491","Xref__c":"719973009"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=344539","Source__c":"C1855627","Xref__c":"MEDGEN:344539"},{"URL__c":"https://www.orpha.net/en/disease/detail/2342","Source__c":"C1855627; MONDO:0009491; ORPHA:2342","Xref__c":"ORPHA:2342"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0009491","Source__c":"GARD:0000044","Xref__c":"MONDO:0009491"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"CTSC","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["Autosomal recessive"],"GARD_Disease_Feature__c":[{"Provided_By__c":"ORPHA:2342","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Abnormally long and slender fingers (spider fingers).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001166","HPO_Synonym__c":"Long slender fingers; Long, slender fingers; Spider fingers","HPO_Name__c":"Arachnodactyly","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2342","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Dissolution or degeneration of bone tissue of the phalanges of the hand.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0009771","HPO_Synonym__c":"Acro-osteolysis; Acroosteolysis; Breakdown of small bones of fingers","HPO_Name__c":"Osteolytic defects of the phalanges of the hand","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2342","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Onychogryphosis is a disorder of nail plate growth that is clinically characterized by an opaque, yellow-brown thickening of the nail plate with associated gross hyperkeratosis, elongation, and increased curvature.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001805","HPO_Synonym__c":"Dystrophic thickened nails; Onychogryposis; Thick nail; Thickened nails","HPO_Name__c":"Onychogryphosis","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2342","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"A foot where the longitudinal arch of the foot is in contact with the ground or floor when the individual is standing; or, in a patient lying supine, a foot where the arch is in contact with the surface of a flat board pressed against the sole of the foot by the examiner with a pressure similar to that expected from weight bearing; or, the height of the arch is reduced.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001763","HPO_Synonym__c":"Flat feet; Flat foot","HPO_Name__c":"Pes planus","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2342","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001870","HPO_Synonym__c":"Acroosteolysis of distal phalanges of feet","HPO_Name__c":"Acroosteolysis of distal phalanges (feet)","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2342","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Caries is a multifactorial bacterial infection affecting the structure of the tooth. This term has been used to describe the presence of more than expected dental caries.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000670","HPO_Synonym__c":"Caries; Cariosity of teeth; Dental caries; Dental cavities; Early dental caries; Frequent caries; Tooth cavities; Tooth decay","HPO_Name__c":"Carious teeth","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2342","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Abnormal thickening of the skin localized to the palm of the hand and the sole of the foot.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000972","HPO_Synonym__c":"Hyperkeratosis of palms and soles; Hyperkeratosis of the palms and soles; Palmoplantar keratoses; Palmoplantar keratosis; Thick palms and soles; Thickened palms and soles; Thickening of the outer layer of the skin of the palms and soles","HPO_Name__c":"Palmoplantar hyperkeratosis","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2342","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Skin characterized by the lack of natural or normal moisture.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000958","HPO_Synonym__c":"Dry skin; Xerosis","HPO_Name__c":"Dry skin","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2342","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Loss of the primary (also known as deciduous) teeth before the usual age.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0006323","HPO_Synonym__c":"Early loss of baby teeth; Early loss of deciduous teeth; Early loss of primary teeth; Premature deciduous tooth loss; Premature loss of baby teeth; Premature loss of deciduous teeth","HPO_Name__c":"Premature loss of primary teeth","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2342","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Small (typically about 1 mm or less in size) depressions on the dorsal nail surface.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001803","HPO_Synonym__c":"Nail pits; Nail pitting; Pitted nails","HPO_Name__c":"Nail pits","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2342","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Infections of the skin that happen multiple times.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001581","HPO_Synonym__c":"Recurrent cutaneous infections; Recurrent skin infections; Skin infections, recurrent","HPO_Name__c":"Recurrent skin infections","Feature_System__c":"Skin System; Immune System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2342","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Abnormal thickening of the skin of the palms of the hands and the soles of the feet.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000982","HPO_Synonym__c":"Keratoderma; Palmar and plantar keratoderma; Thickening of palms and soles","HPO_Name__c":"Palmoplantar keratoderma","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2342","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Inflammation of the periodontium.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000704","HPO_Synonym__c":"Pyorrhea","HPO_Name__c":"Periodontitis","Feature_System__c":"Immune System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2342","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"The term gait disturbance can refer to any disruption of the ability to walk.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001288","HPO_Synonym__c":"Abnormal gait; Abnormal walk; Difficulty in walking; Gait abnormalities; Gait difficulties; Gait disturbances; Impaired gait; Walking disability","HPO_Name__c":"Gait disturbance","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2342","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Chronic loss of joint motion in a finger due to structural changes in non-bony tissue.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0012785","HPO_Synonym__c":"Flexion deformity of finger","HPO_Name__c":"Flexion contracture of finger","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2342","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"One or more bent (flexed) toe joints that cannot be straightened actively or passively.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0005830","HPO_Synonym__c":"Contractures involving the toes; Contractures of the toes; Toe contractures","HPO_Name__c":"Flexion contracture of toe","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2342","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A decrease in the amount of alveolar bone around the root of a tooth.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0410027","HPO_Synonym__c":"Bone loss around teeth","HPO_Name__c":"Alveolar bone loss around teeth","HPO_Feature_Type__c":"Symptom"}}],"tags":{"Cause":["Genetics","Inborn Errors of Metabolism"],"Disease Category":["Genetics","Dermatology","Inborn Errors of Metabolism","Congenital Abnormality"],"Specialist":["Genetics","Dermatology","Odontology","Pediatrics"],"Account":["Dermatology"]},"synonyms":["cochin jewish disorder"," haim munk syndrome"," hms"," keratosis palmoplantaris with periodontopathia and onychogryposis"," keratosis palmoplantaris with periodontopathia and onychogryposis syndrome"," keratosis palmoplantaris-periodontopathia-onychogryposis syndrome"," palmoplantar hyperkeratosis-periodontopathia-onychogryposis syndrome"," palmoplantar keratoderma-periodontopathia-onychogryposis syndrome"],"spanishId":12612,"spanishName":"sindrome-de-haim-munk"}