{"Name":"Cataract-hypertrichosis-intellectual disability syndrome","DiseaseID__c":"GARD:0001052","id":1052,"encodedName":"cataract-hypertrichosis-intellectual-disability-syndrome","IsDeleted":false,"Disease_Name_Full__c":"Cataract-hypertrichosis-intellectual disability syndrome","Xref_IDs__c":"722379001; C0796282; C537959; MEDGEN:167117; MONDO:0008894; OMIM:211770; ORPHA:1375","USA_Estimate__c":"1,000","No_of_Specialist_Tagsa__c":7,"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":3,"Disease_Characteristics_Score__c":8,"No_of_Age_at_Onset__c":1,"Description_Source__c":"MONDO:0008894","Disease_Description__c":"Cataract-hypertrichosis-intellectual disability syndrome is characterized by congenital cataract, generalized hypertrichosis and intellectual deficit. It has been described in two Egyptian sibs born to consanguineous parents. It is transmitted as an autosomal recessive trait.","GARD_Name__c":"Cataract-hypertrichosis-intellectual disability syndrome","GARD_Synonym__c":"cahmr (cataract, hypertrichosis, mental retardation) syndrome; cahmr syndrome; congenital cataract with hypertrichosis and intellectual disability syndrome","Curated_Disease_Description_Source__c":"ORPHA:1375","Curated_Disease_Description__c":"Cataract-hypertrichosis-intellectual disability syndrome is characterized by congenital cataract, generalized hypertrichosis and intellectual deficit. It is transmitted as an autosomal recessive trait.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"1,000","Age_at_Onset_Snippet_Text__c":"as a Newborn","SourceID__c":"ORPHA:1375","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0008894","ORPHANET_ID__c":"ORPHA:1375","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Síndrome de catarata-hipertricosis-discapacidad intelectual","Spanish_Description_Source__c":"ORPHA:1375","Spanish_Description__c":"Es un síndrome caracterizado por cataratas congénitas, hipertricosis generalizada y déficit intelectual. Se ha descrito en dos hermanos egipcios nacidos de padres consanguíneos. Se transmite como rasgo autosómico recesivo.","Spanish_Disease_Name__c":"síndrome de catarata-hipertricosis-discapacidad intelectual","Spanish_GARD_Synonym__c":"síndrome cahmr","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":"Cataract-hypertrichosis-intellectual disability syndrome is characterized by congenital cataract, generalized hypertrichosis and intellectual deficit. It is transmitted as an autosomal recessive trait.","Curated_Disease_Description_Source__c":"ORPHA:1375","GARD_Synonym__c":"cahmr (cataract, hypertrichosis, mental retardation) syndrome; cahmr syndrome; congenital cataract with hypertrichosis and intellectual disability syndrome","Name":"Cataract-hypertrichosis-intellectual disability syndrome","Curated_USA_Estimate__c":"1,000","estimateUsa":"1,000"}],"Organization_Supported_Diseases__c":[{"Account_Name__c":"National Foundation for Ectodermal Dysplasias","Website__c":"https://www.nfed.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":"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":"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":"Ectodermal dysplasia","Tag_Category__c":"Account","curated_tag_name":"Ectodermal dysplasias"},{"Tag_Name__c":"Anterior segment of Eye","Tag_Category__c":"Specialist","curated_tag_name":"Front part of eye disease"},{"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":"Neonatal","Provided_By__c":"ORPHA:1375"}],"External_Identifier_Disease__c":[{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=722379001","Source__c":"C0796282; MONDO:0008894","Xref__c":"722379001"},{"URL__c":"https://www.orpha.net/en/disease/detail/1375","Source__c":"C0796282; MONDO:0008894; ORPHA:1375","Xref__c":"ORPHA:1375"},{"URL__c":"https://www.omim.org/entry/211770","Source__c":"C0796282; MONDO:0008894; ORPHA:1375","Xref__c":"OMIM:211770"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C537959","Source__c":"MONDO:0008894","Xref__c":"C537959"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C0796282","Source__c":"C0796282","Xref__c":"C0796282"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=167117","Source__c":"C0796282","Xref__c":"MEDGEN:167117"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0008894","Source__c":"GARD:0001052","Xref__c":"MONDO:0008894"}],"Inheritance__c":["Autosomal recessive"],"GARD_Disease_Feature__c":[{"Provided_By__c":"ORPHA:1375","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Any abnormality of the palate, i.e., of roof of the mouth.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000174","HPO_Synonym__c":"Abnormality of the palate; Abnormality of the roof of the mouth; Palatal anomaly; Palate abnormality","HPO_Name__c":"Abnormal palate morphology","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1375","HPO_Frequency__c":"Very frequent (80-99%)","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:1375","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Decreased size of the teeth, which can be defined as a mesiodistal tooth diameter (width) more than 2 SD below mean. Alternatively, an apparently decreased maximum width of tooth.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000691","HPO_Synonym__c":"Decreased size of tooth; Decreased width of tooth; Small teeth; Small tooth; Tooth hypoplasia; Tooth hypotrophy; Underdeveloped tooth","HPO_Name__c":"Microdontia","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1375","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"A cataract that occurs congenitally as the result of a developmental defect, in contrast to the majority of cataracts that occur in adulthood as the result of degenerative changes of the lens.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000519","HPO_Synonym__c":"Bilateral congenital cataracts; Cataract, congenital; Clouding of the lens of the eye at birth; Congenital cataract; Congenital cataracts; Congenital cataracts, bilateral","HPO_Name__c":"Developmental cataract","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1375","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Hair on the neck extends more inferiorly than usual.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002162","HPO_Synonym__c":"Low hairline at back of neck; Low posterior hair line","HPO_Name__c":"Low posterior hairline","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1375","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Posterior positioning of the nasal root in relation to the overall facial profile for age.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0005280","HPO_Synonym__c":"Depressed bridge of nose; Depressed nasal bridge; Depressed nasal root; Flat bridge of nose; Flat nasal bridge; Flat nasal root; Flat, nasal bridge; Flattened nasal bridge; Low nasal bridge; Low nasal root; Retruded bridge of nose; Retruded nasal bridge","HPO_Name__c":"Depressed nasal bridge","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1375","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"The term intellectual disability or intellectual developmental disorder is used to describe significantly sub-average intellectual and adaptive functioning based on clinical assessment and as measured by individually administered, appropriately normed, standardized and validated tests of intellectual functioning and adaptive behavior, with onset during the developmental period from infancy through adolescence.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001249","HPO_Synonym__c":"Intellectual disability; Mental deficiency; Mental retardation; Mental retardation, nonspecific; Mental-retardation; Nonprogressive intellectual disability; Nonprogressive mental retardation","HPO_Name__c":"Intellectual disability","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1375","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"A defect of the chest wall characterized by a depression of the sternum, giving the chest (\\\"pectus\\\") a caved-in (\\\"excavatum\\\") appearance.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000767","HPO_Synonym__c":"Funnel chest","HPO_Name__c":"Pectus excavatum","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}}],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics","Neurology","Dermatology","Congenital Abnormality"],"Specialist":["Genetics","Neurology","Ophthalmology","Dermatology","Anterior segment of Eye","Neurodevelopmental disabilities","Pediatrics"],"Account":["Dermatology","Ectodermal dysplasia"]},"synonyms":["cahmr (cataract, hypertrichosis, mental retardation) syndrome"," cahmr syndrome"," congenital cataract with hypertrichosis and intellectual disability syndrome"]}