{"Name":"Ankyloblepharon filiforme adnatum-cleft palate syndrome","DiseaseID__c":"GARD:0000696","id":696,"encodedName":"ankyloblepharon-filiforme-adnatum-cleft-palate-syndrome","IsDeleted":false,"Disease_Name_Full__c":"Ankyloblepharon filiforme adnatum-cleft palate syndrome","Xref_IDs__c":"400952003; C1862866; C536373; MEDGEN:400148; MONDO:0007123; OMIM:106250; ORPHA:1072","USA_Estimate__c":null,"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":null,"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":"ORPHA:1072","Disease_Description__c":"A rare, syndromic, developmental defect of the eye malformation characterized by unilateral or bilateral, single or multiple, filiforme bands of elastic tissue which connect the eyelid margins at the grey line, associated with cleft lip and palate. Eye examination is otherwise normal.","GARD_Name__c":"Ankyloblepharon filiforme adnatum-cleft palate syndrome","GARD_Synonym__c":"ankyloblepharon filiforme adnatum; ankyloblepharon filiforme adnatum and cleft palate; ankyloblepharon filiforme adnatum cleft palate; ankyloblepharon filiforme adnatum with cleft palate syndrome; ankyloblepharon filiforme congenitum; congenital filiform fusion of the eyelids with cleft palate and/or cleft lip","Curated_Disease_Description_Source__c":"ORPHA:1072","Curated_Disease_Description__c":"A rare, syndromic, developmental defect of the eye malformation characterized by unilateral or bilateral, single or multiple, filiforme bands of elastic tissue which connect the eyelid margins at the grey line, associated with cleft lip and palate. Eye examination is otherwise normal.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":null,"Age_at_Onset_Snippet_Text__c":"as a Newborn","SourceID__c":"ORPHA:1072","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0007123","ORPHANET_ID__c":"ORPHA:1072","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Síndrome de anquilobléfaron filiforme adnatum-paladar hendido","Spanish_Description_Source__c":null,"Spanish_Description__c":null,"Spanish_Disease_Name__c":"síndrome de anquilobléfaron filiforme adnatum-paladar hendido","Spanish_GARD_Synonym__c":"anquilobléfaron filiforme adnatum","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":"A rare, syndromic, developmental defect of the eye malformation characterized by unilateral or bilateral, single or multiple, filiforme bands of elastic tissue which connect the eyelid margins at the grey line, associated with cleft lip and palate. Eye examination is otherwise normal.","Curated_Disease_Description_Source__c":"ORPHA:1072","GARD_Synonym__c":"ankyloblepharon filiforme adnatum; ankyloblepharon filiforme adnatum and cleft palate; ankyloblepharon filiforme adnatum cleft palate; ankyloblepharon filiforme adnatum with cleft palate syndrome; ankyloblepharon filiforme congenitum; congenital filiform fusion of the eyelids with cleft palate and/or cleft lip","Name":"Ankyloblepharon filiforme adnatum-cleft palate syndrome","estimateUsa":""}],"Organization_Supported_Diseases__c":[{"Account_Name__c":"Canadian Ectodermal Dysplasia Syndromes Association","Website__c":"https://ectodermaldysplasia.ca/"}],"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":"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":"Orthopedics","Tag_Category__c":"Specialist"},{"Tag_Name__c":"Otolaryngology","Tag_Category__c":"Specialist"},{"Tag_Name__c":"Craniofacial Anomalies","Tag_Category__c":"Account","curated_tag_name":"Craniofacial anomalies"},{"Tag_Name__c":"Congenital limb malformation","Tag_Category__c":"Account","curated_tag_name":"Limb anomalies"},{"Tag_Name__c":"Ectodermal dysplasia","Tag_Category__c":"Account","curated_tag_name":"Ectodermal dysplasias"},{"Tag_Name__c":"Pediatrics","Tag_Category__c":"Specialist"}],"Age_At_Onset__c":[{"Age_At_Onset__c":"Neonatal","Provided_By__c":"ORPHA:1072"}],"External_Identifier_Disease__c":[{"URL__c":"https://raresource.nih.gov/diseases/filter/0000696","Source__c":"RareSource"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=400148","Source__c":"C1862866","Xref__c":"MEDGEN:400148"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C1862866","Source__c":"C1862866","Xref__c":"C1862866"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=400952003","Source__c":"MONDO:0007123","Xref__c":"400952003"},{"URL__c":"https://www.omim.org/entry/106250","Source__c":"C1862866; MONDO:0007123; ORPHA:1072","Xref__c":"OMIM:106250"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C536373","Source__c":"MONDO:0007123","Xref__c":"C536373"},{"URL__c":"https://www.orpha.net/en/disease/detail/1072","Source__c":"C1862866; MONDO:0007123; ORPHA:1072","Xref__c":"ORPHA:1072"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=783204009","Source__c":"C1862866","Xref__c":"783204009"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0007123","Source__c":"GARD:0000696","Xref__c":"MONDO:0007123"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"TP63","GHR_URL__c":"https://medlineplus.gov/genetics/gene/tp63","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["Autosomal dominant"],"GARD_Disease_Feature__c":[{"Provided_By__c":"ORPHA:1072","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Cleft palate is a developmental defect of the palate resulting from a failure of fusion of the palatine processes and manifesting as a separation of the roof of the mouth (soft and hard palate).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000175","HPO_Synonym__c":"Cleft hard and soft palate; Cleft of hard and soft palate; Cleft of palate; Cleft palate; Cleft roof of mouth; Palatoschisis; Uranostaphyloschisis","HPO_Name__c":"Cleft palate","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1072","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Annular constrictions around the digits, limbs, or trunk, occurring congenitally (sometimes causing intrauterine autoamputation) and also associated with a wide variety of disorders. Constrictive amniotic bands are the result of primary amniotic rupture, which can lead to entanglement of fetal tissue (especially limbs) in fibrous amniotic strands.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0009775","HPO_Synonym__c":"Amniotic bands; Congenital constriction band sequence; Pseudoainhum","HPO_Name__c":"Amniotic constriction ring","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1072","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Partial fusion of the upper and lower eyelid margins by single or multiple bands of tissue.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0009755","HPO_Synonym__c":"Adhesion of eyelids; Ankyloblepharon filiforme adnatum; Eyelid synechiae; Eyelids stuck together; Fused eyelid","HPO_Name__c":"Ankyloblepharon","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1072","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A depression located on a lip.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0100267","HPO_Name__c":"Lip pit","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1072","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Clefting (gap or groove) of the upper lip affecting the lateral portions of the upper lip rather than the midline/median region.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0100335","HPO_Synonym__c":"Non-midline cleft of the upper lip; Paramedian cleft of the upper lip","HPO_Name__c":"Non-midline cleft of the upper lip","HPO_Feature_Type__c":"Symptom"}}],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics","Dermatology","Congenital Abnormality"],"Specialist":["Genetics","Ophthalmology","Dermatology","Orthopedics","Otolaryngology","Pediatrics"],"Account":["Dermatology","Craniofacial Anomalies","Congenital limb malformation","Ectodermal dysplasia"]},"synonyms":["ankyloblepharon filiforme adnatum"," ankyloblepharon filiforme adnatum and cleft palate"," ankyloblepharon filiforme adnatum cleft palate"," ankyloblepharon filiforme adnatum with cleft palate syndrome"," ankyloblepharon filiforme congenitum"," congenital filiform fusion of the eyelids with cleft palate and/or cleft lip"]}