{"Name":"Cleft lip and alveolus","DiseaseID__c":"GARD:0016976","id":16976,"encodedName":"cleft-lip-and-alveolus","IsDeleted":false,"Disease_Name_Full__c":"Cleft lip and alveolus","Xref_IDs__c":"373643003; C1298692; MEDGEN:720590; MONDO:0015420; ORPHA:141291","USA_Estimate__c":"200,000","No_of_Specialist_Tagsa__c":2,"No_of_ClinGen_records__c":0,"No_of_GeneReviews__c":0,"No_of_HHS_records__c":0,"World_Estimate__c":"5,000,000 to 7,000,000","No_of_HRSA_records__c":0,"Evidence_Based_Score__c":0,"No_of_Disease_Descriptions__c":1,"Disease_Characteristics_Score__c":5,"No_of_Age_at_Onset__c":2,"Description_Source__c":"MONDO:0015420","Disease_Description__c":"Cleft lip and alveolus is a fissure type embryopathy that involves the upper lip, nasal base and alveolar ridge in variable degrees.","GARD_Name__c":"Cleft lip and alveolus","GARD_Synonym__c":"cleft lip and cleft of alveolar process of maxilla","Curated_Disease_Description_Source__c":"MONDO:0015420","Curated_Disease_Description__c":"Cleft lip and alveolus is a fissure type embryopathy that involves the upper lip, nasal base and alveolar ridge in variable degrees.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"200,000","Age_at_Onset_Snippet_Text__c":"as a Newborn and as an Infant","SourceID__c":"ORPHA:141291","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Grouping","MONDO_ID__c":"MONDO:0015420","ORPHANET_ID__c":"ORPHA:141291","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Fisura labioalveolar","Spanish_Description_Source__c":"ORPHA:141291","Spanish_Description__c":"La fisura labioalveolar es una embriopatía de tipo fisura que afecta de forma variable a labio superior, base de la nariz y reborde alveolar.","Spanish_Disease_Name__c":"fisura labioalveolar","Spanish_GARD_Synonym__c":null,"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":"Cleft lip and alveolus is a fissure type embryopathy that involves the upper lip, nasal base and alveolar ridge in variable degrees.","Curated_Disease_Description_Source__c":"MONDO:0015420","GARD_Synonym__c":"cleft lip and cleft of alveolar process of maxilla","Name":"Cleft lip and alveolus","Curated_USA_Estimate__c":"200,000","estimateUsa":"200,000"}],"GARD_Disease_Tag__c":[{"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":"Otolaryngology","Tag_Category__c":"Specialist"},{"Tag_Name__c":"Craniofacial Anomalies","Tag_Category__c":"Account","curated_tag_name":"Craniofacial anomalies"},{"Tag_Name__c":"Pediatrics","Tag_Category__c":"Specialist"}],"Age_At_Onset__c":[{"Age_At_Onset__c":"Infancy","Provided_By__c":"ORPHA:141291"},{"Age_At_Onset__c":"Neonatal","Provided_By__c":"ORPHA:141291"}],"External_Identifier_Disease__c":[{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C1298692","Source__c":"C1298692","Xref__c":"C1298692"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=373643003","Source__c":"C1298692; MONDO:0015420","Xref__c":"373643003"},{"URL__c":"https://www.orpha.net/en/disease/detail/141291","Source__c":"C1298692; MONDO:0015420; ORPHA:141291","Xref__c":"ORPHA:141291"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=720590","Source__c":"C1298692","Xref__c":"MEDGEN:720590"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0015420","Source__c":"GARD:0016976","Xref__c":"MONDO:0015420"}],"Inheritance__c":["Non-Mendelian inheritance"],"GARD_Disease_Feature__c":[{"Provided_By__c":"ORPHA:141291","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"An abnormality of the gestures or movements executed with the facial muscles with which emotions such as fear, joy, sadness, surprise, and disgust can be expressed.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0005324","HPO_Synonym__c":"Disturbance of facial expression","HPO_Name__c":"Disturbance of facial expression","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:141291","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"An abnormal reduction in the ability to masticate (chew), i.e., in the ability to crush and ground food in preparation for swallowing.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0005216","HPO_Synonym__c":"Chewing difficulties; Chewing difficulty; Difficulty chewing","HPO_Name__c":"Impaired mastication","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:141291","HPO_Frequency__c":"Very frequent (80-99%)","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:141291","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"A type of speech characterized by the presence of an abnormally increased nasal airflow during speech associated with structural abnormality of the nasal passages.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001611","HPO_Synonym__c":"Hypernasal voice; Nasal speech; Nasal voice","HPO_Name__c":"Hypernasal speech","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:141291","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"An abnormality of the nasal septum.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000419","HPO_Synonym__c":"Abnormality of septum of nose; Abnormality of the nasal septum; Anomaly of nasal septum; Anomaly of septum of nose","HPO_Name__c":"Abnormal nasal septum morphology","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:141291","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"An abnormality of the face.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000271","HPO_Synonym__c":"Abnormal face; Abnormality of the face; Facial abnormality","HPO_Name__c":"Abnormality of the face","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:141291","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"An anomaly of the rhythm or depth of breathing.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002793","HPO_Synonym__c":"Abnormal pattern of respiration; Abnormal respiratory patterns; Unusual breathing patterns","HPO_Name__c":"Abnormal pattern of respiration","Feature_System__c":"Respiratory system","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:141291","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0005105","HPO_Synonym__c":"Abnormal nose morphology; Abnormal of morphology of nose; Abnormal of nasal shape; Abnormal of shape of nose","HPO_Name__c":"Abnormal nasal morphology","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:141291","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"The absence of five or less teeth from the normal series by a failure to develop.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000668","HPO_Synonym__c":"Failure of development of between one and six teeth","HPO_Name__c":"Hypodontia","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:141291","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Any abnormality of the masticatory muscle.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0410011","HPO_Synonym__c":"Abnormality of muscles of mastication","HPO_Name__c":"Abnormality of masticatory muscle","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:141291","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Difficulty in swallowing.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002015","HPO_Synonym__c":"Difficulty swallowing; Poor swallowing; Swallowing difficulties; Swallowing difficulty","HPO_Name__c":"Dysphagia","Feature_System__c":"Nervous System; Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:141291","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Impairment in the physical production of speech sounds.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0009088","HPO_Name__c":"Speech articulation difficulties","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}}],"tags":{"Disease Category":["Congenital Abnormality"],"Specialist":["Otolaryngology","Pediatrics"],"Account":["Craniofacial Anomalies"]},"synonyms":["cleft lip and cleft of alveolar process of maxilla"]}