{"Name":"Treacher Collins syndrome 3","DiseaseID__c":"GARD:0009125","id":9125,"encodedName":"treacher-collins-syndrome-3","IsDeleted":false,"Disease_Name_Full__c":"Treacher Collins syndrome 3","Xref_IDs__c":"C1855433; C535707; DOID:0080791; MEDGEN:340868; MONDO:0009558; OMIM:248390","USA_Estimate__c":null,"No_of_Specialist_Tagsa__c":0,"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":1,"Disease_Characteristics_Score__c":4,"No_of_Age_at_Onset__c":0,"Description_Source__c":"MONDO:0009558","Disease_Description__c":"Any Treacher-Collins syndrome in which the cause of the disease is a mutation in the POLR1C gene.","GARD_Name__c":"Treacher Collins syndrome 3","GARD_Synonym__c":"polr1c treacher-collins syndrome; polr1c-related treacher collins syndrome; tcs3; treacher collins syndrome type 3; treacher-collins syndrome caused by mutation in polr1c","Curated_Disease_Description_Source__c":"MONDO:0009558","Curated_Disease_Description__c":"Any Treacher-Collins syndrome in which the cause of the disease is a mutation in the POLR1C gene.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":null,"Age_at_Onset_Snippet_Text__c":null,"SourceID__c":"OMIM:248390","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0009558","ORPHANET_ID__c":null,"Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":null,"Spanish_Description_Source__c":null,"Spanish_Description__c":null,"Spanish_Disease_Name__c":null,"Spanish_GARD_Synonym__c":null,"Category_Linearization__c":null,"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":"Any Treacher-Collins syndrome in which the cause of the disease is a mutation in the POLR1C gene.","Curated_Disease_Description_Source__c":"MONDO:0009558","GARD_Synonym__c":"polr1c treacher-collins syndrome; polr1c-related treacher collins syndrome; tcs3; treacher collins syndrome type 3; treacher-collins syndrome caused by mutation in polr1c","Name":"Treacher Collins syndrome 3","estimateUsa":""}],"Organization_Supported_Diseases__c":[{"Account_Name__c":"FACES: The National Craniofacial Association","Website__c":"https://www.faces-cranio.org/"},{"Account_Name__c":"Children's Craniofacial Association","Website__c":"https://ccakids.org/"}],"External_Identifier_Disease__c":[{"URL__c":"https://raresource.nih.gov/diseases/filter/0009125","Source__c":"RareSource"},{"URL__c":"https://www.ncbi.nlm.nih.gov/books/NBK1532","Source__c":"Gene Review","Xref__c":"NBK1532"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=340868","Source__c":"C1855433","Xref__c":"MEDGEN:340868"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C1855433","Source__c":"C1855433","Xref__c":"C1855433"},{"URL__c":"https://www.omim.org/entry/248390","Source__c":"C1855433; MONDO:0009558","Xref__c":"OMIM:248390"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C535707","Source__c":"MONDO:0009558","Xref__c":"C535707"},{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A0080791","Source__c":"MONDO:0009558","Xref__c":"DOID:0080791"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0009558","Source__c":"GARD:0009125","Xref__c":"MONDO:0009558"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"POLR1C","GHR_URL__c":"https://medlineplus.gov/genetics/gene/polr1c","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["Autosomal recessive"],"GARD_Disease_Feature__c":[{"Provided_By__c":"OMIM:248390","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Developmental hypoplasia of the mandible.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000347","HPO_Synonym__c":"Decreased size of lower jaw; Decreased size of mandible; Hypoplasia of lower jaw; Hypoplasia of mandible; Hypoplastic mandible; Hypoplastic mandible condyle; Hypotrophic lower jaw; Hypotrophic mandible; Little lower jaw; Little mandible; Lower jaw deficiency; Lower jaw hypoplasia; Mandibular deficiency; Mandibular hypoplasia; Mandibular micrognathia; Micrognathia of lower jaw; Micromandible; Robin mandible; Severe hypoplasia of mandible; Small jaw; Small lower jaw; Small mandible; Underdevelopment of lower jaw; Underdevelopment of mandible","HPO_Name__c":"Micrognathia","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:248390","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"An abnormality of vibrational conductance of sound to the inner ear leading to impairment of sensory perception of sound.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000405","HPO_Synonym__c":"Conduction deafness; Conductive deafness; Conductive hearing loss; Hearing loss, conductive","HPO_Name__c":"Conductive hearing impairment","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:248390","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"A short discontinuity of the margin of the lower eyelid.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000652","HPO_Synonym__c":"Cleft lower eyelid; Coloboma of lower eyelid; Full thickness defect of the lower eyelid; Lower lid coloboma; Notched lower eyelid","HPO_Name__c":"Lower eyelid coloboma","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:248390","Feature__r":{"HPO_Description__c":"A type of craniofacial dysostosis associated with abnormalities of the external ears, mirognathia, macrostomia, coloboma of the lower eyelid, and cleft palate. This is a bundled term that is left in the HPO now for convenience with legacy annotations but should not be used for new annotations.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0005321","HPO_Synonym__c":"Treacher Collins syndrome","HPO_Name__c":"Mandibulofacial dysostosis","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:248390","HPO_Frequency__c":"Frequent (30-79%)","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":"OMIM:248390","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Underdevelopment of the zygomatic bone. That is, a reduction in size of the zygomatic bone, including the zygomatic process of the temporal bone of the skull, which forms part of the zygomatic arch.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0010669","HPO_Synonym__c":"Cheekbone underdevelopment; Decreased size of cheekbone; Decreased size of zygomatic bone; Hypoplasia of cheekbone; Underdevelopment of cheekbone; Underdevelopment of zygomatic bone","HPO_Name__c":"Hypoplasia of the zygomatic bone","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:248390","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Underdevelopment of the malar prominence of the jugal bone (zygomatic bone in mammals), appreciated in profile, frontal view, and/or by palpation.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000272","HPO_Synonym__c":"Decreased size of malar bone; Depressed malar region; Flat cheekbone; Malar hypoplasia; Underdevelopment of malar bone; Zygomatic flattening","HPO_Name__c":"Malar flattening","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:248390","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Underdevelopment of the external ear.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0008551","HPO_Synonym__c":"Bilateral microtia; Hypoplasia of the external ear; Hypoplastic ears; Hypoplastic pinna; Small ears; Small pinnae; Underdeveloped ears","HPO_Name__c":"Microtia","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:248390","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"The palpebral fissure inclination is more than two standard deviations below the mean.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000494","HPO_Synonym__c":"Antimongoloid eye slant; Antimongoloid slant of palpebral fissures; Antimongoloid slanted palpebral fissures; Down slanting palpebral fissures; Down-slanted palpebral fissures; Down-slanting palpebral fissure; Down-slanting palpebral fissures; Downslanting palpebral fissure; Downslanting palpebral fissures; Downward slanted palpebral fissures; Downward slanting of the opening between the eyelids; Downward slanting palpebral fissures; Downward-slanting palpebral fissures; Palpebral fissures down-slanted","HPO_Name__c":"Downslanted palpebral fissures","HPO_Feature_Type__c":"Symptom"}}],"tags":{},"synonyms":["polr1c treacher-collins syndrome"," polr1c-related treacher collins syndrome"," tcs3"," treacher collins syndrome type 3"," treacher-collins syndrome caused by mutation in polr1c"]}