{"Name":"Cleft upper lip","DiseaseID__c":"GARD:0017091","id":17091,"encodedName":"cleft-upper-lip","IsDeleted":false,"Disease_Name_Full__c":"Cleft upper lip","Xref_IDs__c":"C0008924; C87175; HP:0000204; MEDGEN:40327; MONDO:0016043; ORPHA:199302","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":"800,000 to 5,000,000","No_of_HRSA_records__c":0,"Evidence_Based_Score__c":0,"No_of_Disease_Descriptions__c":2,"Disease_Characteristics_Score__c":5,"No_of_Age_at_Onset__c":2,"Description_Source__c":"MONDO:0016043","Disease_Description__c":"Isolated cleft lip is a fissure type embryopathy extending from the upper lip to the nasal base.","GARD_Name__c":"Cleft upper lip","GARD_Synonym__c":"cheiloschisis; cheiloschisis of upper lip; cl - cleft lip; cleft lip; cleft of upper lip; congenital fissure of lip; harelip; isolated cleft lip; isolated cleft lip (disease); labium leporinum; nonsyndromic cleft lip (disease)","Curated_Disease_Description_Source__c":"MONDO:0016043","Curated_Disease_Description__c":"Isolated cleft lip is a fissure type embryopathy extending from the upper lip to the nasal base.","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:199302","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Grouping","MONDO_ID__c":"MONDO:0016043","ORPHANET_ID__c":"ORPHA:199302","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Labio leporino aislado","Spanish_Description_Source__c":"ORPHA:199302","Spanish_Description__c":"El labio leporino aislado es una embriopatía de tipo fisura que se extiende desde el labio superior a la base de la nariz.","Spanish_Disease_Name__c":"labio leporino aislado","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":"Isolated cleft lip is a fissure type embryopathy extending from the upper lip to the nasal base.","Curated_Disease_Description_Source__c":"MONDO:0016043","GARD_Synonym__c":"cheiloschisis; cheiloschisis of upper lip; cl - cleft lip; cleft lip; cleft of upper lip; congenital fissure of lip; harelip; isolated cleft lip; isolated cleft lip (disease); labium leporinum; nonsyndromic cleft lip (disease)","Name":"Cleft upper lip","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":"Neonatal","Provided_By__c":"ORPHA:199302"},{"Age_At_Onset__c":"Infancy","Provided_By__c":"ORPHA:199302"}],"External_Identifier_Disease__c":[{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=40327","Source__c":"C0008924","Xref__c":"MEDGEN:40327"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C0008924","Source__c":"C0008924","Xref__c":"C0008924"},{"URL__c":"https://www.orpha.net/en/disease/detail/199302","Source__c":"C0008924; MONDO:0016043","Xref__c":"ORPHA:199302"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0016043","Source__c":"GARD:0017091","Xref__c":"MONDO:0016043"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C002971","Source__c":"C0008924","Xref__c":"D002971"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=80281008","Source__c":"C0008924","Xref__c":"80281008"},{"URL__c":"https://evsexplore.semantics.cancer.gov/evsexplore/concept/ncit/C87175","Source__c":"C0008924","Xref__c":"C87175"},{"URL__c":"https://hpo.jax.org/browse/term/HP:0000204","Source__c":"C0008924","Xref__c":"HP:0000204"}],"Inheritance__c":["Non-Mendelian inheritance"],"GARD_Disease_Feature__c":[{"Provided_By__c":"ORPHA:199302","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Atypical behavior is an abnormality in a person's actions that can be controlled or modulated by the will of the individual. While abnormal behaviors can be difficult to control, they are distinct from other abnormal actions that cannot be affected by the individual's will.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000708","HPO_Synonym__c":"Behavioral abnormality; Behavioral changes; Behavioral disorders; Behavioral disturbances; Behavioral problems; Behavioral symptoms; Behavioral/psychiatric abnormalities; Behavioural symptoms; Behavioural/Psychiatric abnormality; Psychiatric disorders; Psychiatric disturbances","HPO_Name__c":"Atypical behavior","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:199302","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"The presence of a supernumerary, i.e., extra, maxillary incisor, either the primary maxillary incisor or the permanent maxillary incisor.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0006332","HPO_Synonym__c":"Extra upper front tooth","HPO_Name__c":"Supernumerary maxillary incisor","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:199302","HPO_Frequency__c":"Uncommon (<1-4%)","Feature__r":{"HPO_Description__c":"Talipes equinovarus (also called clubfoot) typically has four main components: inversion and adduction of the forefoot; inversion of the heel and hindfoot; equinus (limitation of extension) of the ankle and subtalar joint; and internal rotation of the leg.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001762","HPO_Synonym__c":"Club feet; Club foot; Clubbing of feet; Clubfeet; Clubfoot; Equinovarus; Foot, talipes equinovarus; Pes equinovarus; Pes equinus","HPO_Name__c":"Talipes equinovarus","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:199302","HPO_Frequency__c":"Uncommon (<1-4%)","Feature__r":{"HPO_Description__c":"Protrusion of abdominal contents through a defect in the abdominal wall musculature around the umbilicus. Skin and subcutaneous tissue overlie the defect.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001537","HPO_Synonym__c":"Umbilical hernias","HPO_Name__c":"Umbilical hernia","Feature_System__c":"Musculoskeletal System; Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:199302","HPO_Frequency__c":"Uncommon (<1-4%)","Feature__r":{"HPO_Description__c":"Impairment of certain skills such as reading or writing, coordination, self-control, or attention that interfere with the ability to learn. The impairment is not related to a global deficiency of intelligence.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001328","HPO_Name__c":"Specific learning disability","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:199302","HPO_Frequency__c":"Uncommon (<1-4%)","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":"ORPHA:199302","HPO_Frequency__c":"Uncommon (<1-4%)","Feature__r":{"HPO_Description__c":"The presence of excess amniotic fluid in the uterus during pregnancy.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001561","HPO_Synonym__c":"High levels of amniotic fluid; Hydramnios","HPO_Name__c":"Polyhydramnios","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:199302","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Chronic otitis media refers to fluid, swelling, or infection of the middle ear that does not heal and may cause permanent damage to the ear.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000389","HPO_Synonym__c":"Chronic infections of the middle ear; Otitis media, chronic","HPO_Name__c":"Chronic otitis media","Feature_System__c":"Immune System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:199302","HPO_Frequency__c":"Frequent (30-79%)","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"}},{"Provided_By__c":"ORPHA:199302","HPO_Frequency__c":"Uncommon (<1-4%)","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:199302","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Persistent, excessively negative, and critical thoughts of one's personal abilities, attributes, or any feature related to the self and self-attitude. The affected individual believes they are a lesser being compared to others in their social peer group.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0031469","HPO_Synonym__c":"Worthlessness","HPO_Name__c":"Low self-esteem","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:199302","HPO_Frequency__c":"Occasional (5-29%)","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"}},{"Provided_By__c":"ORPHA:199302","HPO_Frequency__c":"Uncommon (<1-4%)","Feature__r":{"HPO_Description__c":"A left-right reversal (or mirror reflection) of the anatomical location of the major thoracic and abdominal organs.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001696","HPO_Synonym__c":"All organs on wrong side of body; situs oppositus; situs transversus","HPO_Name__c":"Situs inversus totalis","Feature_System__c":"Cardiovascular System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:199302","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Inability of velopharyngeal sphincter to sufficiently separate the nasal cavity from the oral cavity during speech.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000220","HPO_Synonym__c":"Velopharyngeal incompetence","HPO_Name__c":"Velopharyngeal insufficiency","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:199302","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A structural anomaly of the Eustachian tube (ET). The ET is a biomechanical valve between the nasopharynx and the middle ear. Physiologically, it controls the passive adaptation of the middle ear air pressure to the ambient air pressure primarily via direct muscular actions of the soft palate. In the closed state it protects the middle ear. Inadequate function of the ET causes middle ear ventilation disorders.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0040115","HPO_Synonym__c":"Abnormality of the Eustachian tube","HPO_Name__c":"Abnormal Eustachian tube morphology","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:199302","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A non-midline cleft of the upper lip on the left and right sides.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0100336","HPO_Synonym__c":"Bilateral cheiloschisis; Both sided cleft lip; Right and left cleft lip","HPO_Name__c":"Bilateral cleft lip","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:199302","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Smaller than normal size according to sex and gestational age related norms, defined as a weight below the 10th percentile for the gestational age.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001518","HPO_Synonym__c":"Birth weight less than 10th percentile; Low birth weight; Small for gestational age","HPO_Name__c":"Small for gestational age","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:199302","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Increased size of the teeth, which can be defined as a mesiodistal tooth diameter (width) more than 2 SD above mean for age. Alternatively, an apparently increased maximum width of the tooth.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001572","HPO_Synonym__c":"Increased size of tooth; Increased width of tooth; Large tooth; Megalodontia","HPO_Name__c":"Macrodontia","HPO_Feature_Type__c":"Symptom"}}],"tags":{"Disease Category":["Congenital Abnormality"],"Specialist":["Otolaryngology","Pediatrics"],"Account":["Craniofacial Anomalies"]},"synonyms":["cheiloschisis"," cheiloschisis of upper lip"," cl - cleft lip"," cleft lip"," cleft of upper lip"," congenital fissure of lip"," harelip"," isolated cleft lip"," isolated cleft lip (disease)"," labium leporinum"," nonsyndromic cleft lip (disease)"]}