{"Name":"Aplasia of the nose","DiseaseID__c":"GARD:0000364","id":364,"encodedName":"aplasia-of-the-nose","IsDeleted":false,"Disease_Name_Full__c":"Aplasia of the nose","Xref_IDs__c":"111317000; C0265740; C537438; HP:0009927; MEDGEN:120555; MONDO:0015237; ORPHA:1134","USA_Estimate__c":"1,000","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":"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":4,"No_of_Age_at_Onset__c":2,"Description_Source__c":"MONDO:0015237","Disease_Description__c":"An extremely rare, major congenital malformation consisting of an absence of the nose ranging from hyporrhinia (absence of external nasal structures) to total arrhinia (absence of external nose, nasal airways, olfactory bulbs, or olfactory nerve) often causing respiratory distress and requiring surgical correction. Arrhinia can be bilateral or unilateral (hemiarrhinia). Associated anomalies include ocular features (hypertelorism, microphthalmia, eyelid coloboma), facial clefts, midline defects and microtia.","GARD_Name__c":"Aplasia of the nose","GARD_Synonym__c":"absent nose; agenesis of nose; arhinia; arrhinia; congenital absence of nose; congenital absence of the nose; failure of development of nose; isolated arrhinia; isolated nose agenesis; missing nose; nasal underdevelopment; nose agenesia; nose agenesis; underdevelopment of nose","Curated_Disease_Description_Source__c":"MONDO:0015237","Curated_Disease_Description__c":"An extremely rare, major congenital malformation consisting of an absence of the nose ranging from hyporrhinia (absence of external nasal structures) to total arrhinia (absence of external nose, nasal airways, olfactory bulbs, or olfactory nerve) often causing respiratory distress and requiring surgical correction. Arrhinia can be bilateral or unilateral (hemiarrhinia). Associated anomalies include ocular features (hypertelorism, microphthalmia, eyelid coloboma), facial clefts, midline defects and microtia.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"1,000","Age_at_Onset_Snippet_Text__c":"during Pregnancy and as a Newborn","SourceID__c":"ORPHA:1134","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0015237","ORPHANET_ID__c":"ORPHA:1134","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Arrinia aislada","Spanish_Description_Source__c":"ORPHA:1134","Spanish_Description__c":"Es una importante malformación congénita muy poco frecuente consistente en la ausencia de nariz, que varía desde hiporrinia (ausencia de estructuras nasales externas) hasta arrinia completa (ausencia de nariz externa, vías respiratorias nasales, bulbos olfativos o nervios olfativos), que a menudo causa dificultad respiratoria y requiere de corrección quirúrgica. La arrinia puede ser bi- o unilateral (hemiarrinia). Las anomalías asociadas incluyen hallazgos oculares (hipertelorismo, microftalmia, coloboma del párpado), hendiduras faciales, defectos de la línea media y microtia.","Spanish_Disease_Name__c":"arrinia aislada","Spanish_GARD_Synonym__c":"agenesia nasal aislada","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":"An extremely rare, major congenital malformation consisting of an absence of the nose ranging from hyporrhinia (absence of external nasal structures) to total arrhinia (absence of external nose, nasal airways, olfactory bulbs, or olfactory nerve) often causing respiratory distress and requiring surgical correction. Arrhinia can be bilateral or unilateral (hemiarrhinia). Associated anomalies include ocular features (hypertelorism, microphthalmia, eyelid coloboma), facial clefts, midline defects and microtia.","Curated_Disease_Description_Source__c":"MONDO:0015237","GARD_Synonym__c":"absent nose; agenesis of nose; arhinia; arrhinia; congenital absence of nose; congenital absence of the nose; failure of development of nose; isolated arrhinia; isolated nose agenesis; missing nose; nasal underdevelopment; nose agenesia; nose agenesis; underdevelopment of nose","Name":"Aplasia of the nose","Curated_USA_Estimate__c":"1,000","estimateUsa":"1,000"}],"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":"Pediatrics","Tag_Category__c":"Specialist"}],"Age_At_Onset__c":[{"Age_At_Onset__c":"Antenatal","Provided_By__c":"ORPHA:1134"},{"Age_At_Onset__c":"Neonatal","Provided_By__c":"ORPHA:1134"}],"External_Identifier_Disease__c":[{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C537438","Source__c":"MONDO:0015237","Xref__c":"C537438"},{"URL__c":"https://www.orpha.net/en/disease/detail/1134","Source__c":"C0265740; MONDO:0015237; ORPHA:1134","Xref__c":"ORPHA:1134"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=111317000","Source__c":"C0265740; MONDO:0015237","Xref__c":"111317000"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=120555","Source__c":"C0265740","Xref__c":"MEDGEN:120555"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C0265740","Source__c":"C0265740","Xref__c":"C0265740"},{"URL__c":"https://hpo.jax.org/browse/term/HP:0009927","Source__c":"C0265740","Xref__c":"HP:0009927"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0015237","Source__c":"GARD:0000364","Xref__c":"MONDO:0015237"}],"GARD_Disease_Feature__c":[{"Provided_By__c":"ORPHA:1134","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Thinned, deficient, or excessively arched ala nasi.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000430","HPO_Synonym__c":"Ala nasi, underdeveloped; Alar cartilage hypoplasia; Decreased size of nasal alae; Hypoplastic alae nasae; Hypoplastic alae nasi; Hypoplastic alar cartilage; Hypoplastic alar nasae; Hypoplastic nares; Hypoplastic nasal alae; Hypoplastic nasal wings; Hypoplastic nostrils; Nasal cartilage hypoplasia; Small nasal alae; Thin hypoplastic alae nasi; Underdeveloped tissue around nostril","HPO_Name__c":"Underdeveloped nasal alae","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1134","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Respiratory distress is objectively observable as the physical or emotional consequences from the experience of dyspnea. The physical presentation of respiratory distress is generally referred to as labored breathing, while the sensation of respiratory distress is called shortness of breath or dyspnea.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002098","HPO_Synonym__c":"Breathing difficulties; Labored breathing; Respiratory difficulties","HPO_Name__c":"Respiratory distress","Feature_System__c":"Respiratory system","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1134","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Complete absence of all nasal structures.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0009927","HPO_Synonym__c":"Absent nose; Arrhinia; Failure of development of nose; Nasal underdevelopment; Underdevelopment of nose","HPO_Name__c":"Aplasia of the nose","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1134","HPO_Frequency__c":"Frequent (30-79%)","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":"ORPHA:1134","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"A developmental anomaly characterized by abnormal smallness of one or both eyes.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000568","HPO_Synonym__c":"Abnormally small eyeball; Abnormally small globe of eye; Microphthalmos","HPO_Name__c":"Microphthalmia","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1134","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"This term groups together three conditions that presumably represent different degrees of severity of a midline defect of the nose or nasal tip.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0004122","HPO_Synonym__c":"Central defect of nose; Central nasal defect; Midline defect of the nose; Midline nasal defect","HPO_Name__c":"Midline defect of the nose","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1134","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Lack of the cartilage of the nasal septum.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0005273","HPO_Synonym__c":"Absent nasal septal cartilage; Absent nasal septum; Ageneis of nasal septal cartilage","HPO_Name__c":"Absent nasal septal cartilage","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1134","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Absence or underdevelopment of the nasal septum.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0009935","HPO_Synonym__c":"Ageneis of nasal septum; Underdevelopment of nasal septum","HPO_Name__c":"Aplasia/Hypoplasia of the nasal septum","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1134","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"A congenital malformation with a cleft (gap or opening) in the face.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002006","HPO_Synonym__c":"Cleft of the face; Facial cleft; Tessier facial cleft","HPO_Name__c":"Tessier cleft","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1134","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"A short discontinuity of the margin of the lower or upper eyelid.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000625","HPO_Synonym__c":"Cleft eyelid; Full thickness defect of the eyelid; Notched eyelid","HPO_Name__c":"Eyelid coloboma","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1134","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Underdevelopment of the nasal bone.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0004646","HPO_Synonym__c":"Decreased size of nasal bone; Deficiency of nasal bone; Nasal bone hypoplasia; Underdevelopment of nasal bone","HPO_Name__c":"Hypoplasia of the nasal bone","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1134","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Interpupillary distance more than 2 SD above the mean (alternatively, the appearance of an increased interpupillary distance or widely spaced eyes).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000316","HPO_Synonym__c":"Excessive orbital separation; Increased distance between eye sockets; Increased distance between eyes; Increased interpupillary distance; Ocular hypertelorism; Wide-set eyes; Widely spaced eyes; Widened interpupillary distance","HPO_Name__c":"Hypertelorism","HPO_Feature_Type__c":"Symptom"}}],"tags":{"Disease Category":["Congenital Abnormality"],"Specialist":["Otolaryngology","Pediatrics"]},"synonyms":["absent nose"," agenesis of nose"," arhinia"," arrhinia"," congenital absence of nose"," congenital absence of the nose"," failure of development of nose"," isolated arrhinia"," isolated nose agenesis"," missing nose"," nasal underdevelopment"," nose agenesia"," nose agenesis"," underdevelopment of nose"]}