{"Name":"Facial hemiatrophy","DiseaseID__c":"GARD:0007338","id":7338,"encodedName":"facial-hemiatrophy","IsDeleted":false,"Disease_Name_Full__c":"Facial hemiatrophy","Xref_IDs__c":"718224004; 95834000; C0015458; C116916; D005150; DOID:1757; MEDGEN:8761; MONDO:0007710; OMIM:141300; ORPHA:1214","USA_Estimate__c":"5,000","No_of_Specialist_Tagsa__c":3,"No_of_ClinGen_records__c":0,"No_of_GeneReviews__c":0,"No_of_HHS_records__c":0,"World_Estimate__c":"8,000 to 80,000","No_of_HRSA_records__c":0,"Evidence_Based_Score__c":0,"No_of_Disease_Descriptions__c":3,"Disease_Characteristics_Score__c":6,"No_of_Age_at_Onset__c":3,"Description_Source__c":"MONDO:0007710","Disease_Description__c":"Progressive hemifacial atrophy (PHA) is a rare acquired disorder, characterized by unilateral slowly progressive atrophy of the skin and soft tissues of half of the face leading to a sunken appearance. Muscles, cartilage and the underlying bony structures may also be involved.","GARD_Name__c":"Facial hemiatrophy","GARD_Synonym__c":"atrophy of half of face; atrophy of one side of the face; facial trophoneurosis; hemifacial atrophy; parry romberg syndrome; parry-romberg syndrome; pha; progressive facial hemiatrophy; progressive hemifacial atrophy; romberg syndrome","Curated_Disease_Description_Source__c":"GARD:0007338","Curated_Disease_Description__c":"Progressive hemifacial atrophy (PHA), also known as Parry-Romberg syndrome, is characterized by slowly progressive deterioration of the skin and soft tissues on one side of the face. It sometimes occurs on both sides of the face and occasionally involves the arm, trunk, and/or leg. The condition may worsen for many years and then stabilize. The severity varies greatly. While the cause is not well understood, it may differ among affected people.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"5,000","Age_at_Onset_Snippet_Text__c":"from Childhood to Adulthood","SourceID__c":"ORPHA:1214","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0007710","ORPHANET_ID__c":"ORPHA:1214","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Atrofia hemifacial progresiva","Spanish_Description_Source__c":"ORPHA:1214","Spanish_Description__c":"La atrofia hemifacial progresiva (AHP) es un trastorno adquirido poco frecuente caracterizado por atrofia unilateral lentamente progresiva de la piel y de los tejidos blandos de la mitad del rostro, que produce una apariencia hundida. También pueden estar afectados los músculos, cartílagos y estructuras óseas subyacentes.","Spanish_Disease_Name__c":"atrofia hemifacial progresiva","Spanish_GARD_Synonym__c":"síndrome de parry-romberg","Category_Linearization__c":"ORPHA:98006","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":"Progressive hemifacial atrophy (PHA), also known as Parry-Romberg syndrome, is characterized by slowly progressive deterioration of the skin and soft tissues on one side of the face. It sometimes occurs on both sides of the face and occasionally involves the arm, trunk, and/or leg. The condition may worsen for many years and then stabilize. The severity varies greatly. While the cause is not well understood, it may differ among affected people.","Curated_Disease_Description_Source__c":"GARD:0007338","GARD_Synonym__c":"atrophy of half of face; atrophy of one side of the face; facial trophoneurosis; hemifacial atrophy; parry romberg syndrome; parry-romberg syndrome; pha; progressive facial hemiatrophy; progressive hemifacial atrophy; romberg syndrome","Name":"Facial hemiatrophy","Curated_USA_Estimate__c":"5,000","estimateUsa":"5,000"}],"Organization_Supported_Diseases__c":[{"Account_Name__c":"myFace","Website__c":"https://www.myface.org/"},{"Account_Name__c":"Autoimmune Registry","Website__c":"https://www.autoimmuneregistry.org/"},{"Account_Name__c":"Global Autoimmune Institute","Website__c":"https://www.autoimmuneinstitute.org/"},{"Account_Name__c":"Alianza Iberoamericana de Enfermedades Raras o Poco Frecuentes","Website__c":"https://aliber.org/web/"},{"Account_Name__c":"Federación Mexicana de Enfermedades Raras (FEMEXER)","Website__c":"http://www.femexer.org/"},{"Account_Name__c":"Federación Española de Enfermedades Raras","Website__c":"https://enfermedades-raras.org/"},{"Account_Name__c":"Federación Colombiana de Enfermedades Raras","Website__c":"http://www.fecoer.org"},{"Account_Name__c":"Federación Argentina de Enfermedades Poco Frecuentes","Website__c":"https://fadepof.org.ar/"},{"Account_Name__c":"Asociación Todos Unidos Enfermedades Raras Uruguay","Website__c":"https://atueru.org.uy/"},{"Account_Name__c":"Asociación Mexicana de Orientación, Apoyo y Lucha Contra la Esclerodermia, A.C.","Website__c":"https://esclerodermiamexico.com/"},{"Account_Name__c":"Asociación Española de Esclerodermia","Website__c":"https://esclerodermia.com/"},{"Account_Name__c":"FACES: The National Craniofacial Association","Website__c":"https://www.faces-cranio.org/"},{"Account_Name__c":"Facial Pain Association","Website__c":"https://www.facepain.org/"},{"Account_Name__c":"Autoimmune Association","Website__c":"https://autoimmune.org/"}],"GARD_Disease_Tag__c":[{"Tag_Name__c":"Neurology","Tag_Category__c":"Disease Category;Specialist","category_description":"Neurological diseases affect the brain, spinal cord, cranial nerves, autonomic nerves, or other peripheral nerves.","curated_tag_name":"Neurological diseases"},{"Tag_Name__c":"Epilepsy","Tag_Category__c":"Account;Specialist","curated_tag_name":"Epilepsy"},{"Tag_Name__c":"Pediatrics","Tag_Category__c":"Specialist"}],"Age_At_Onset__c":[{"Age_At_Onset__c":"Adult","Provided_By__c":"ORPHA:1214"},{"Age_At_Onset__c":"Adolescent","Provided_By__c":"ORPHA:1214"},{"Age_At_Onset__c":"Childhood","Provided_By__c":"ORPHA:1214"}],"External_Identifier_Disease__c":[{"URL__c":"https://www.orpha.net/en/disease/detail/1214","Source__c":"C0015458; MONDO:0007710; ORPHA:1214","Xref__c":"ORPHA:1214"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=718224004","Source__c":"C0015458; MONDO:0007710","Xref__c":"718224004"},{"URL__c":"https://evsexplore.semantics.cancer.gov/evsexplore/concept/ncit/C116916","Source__c":"C0015458; MONDO:0007710","Xref__c":"C116916"},{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A1757","Source__c":"MONDO:0007710","Xref__c":"DOID:1757"},{"URL__c":"https://www.omim.org/entry/141300","Source__c":"C0015458; MONDO:0007710; ORPHA:1214","Xref__c":"OMIM:141300"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=8761","Source__c":"C0015458","Xref__c":"MEDGEN:8761"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C0015458","Source__c":"C0015458","Xref__c":"C0015458"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C005150","Source__c":"C0015458; MONDO:0007710","Xref__c":"D005150"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0007710","Source__c":"GARD:0007338","Xref__c":"MONDO:0007710"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=95834000","Source__c":"C0015458","Xref__c":"95834000"},{"URL__c":"https://hpo.jax.org/browse/term/HP:0011331","Source__c":"C0015458","Xref__c":"HP:0011331"},{"URL__c":"https://evsexplore.semantics.cancer.gov/evsexplore/concept/ncit/C84703","Source__c":"C0015458","Xref__c":"C84703"}],"GARD_Disease_Feature__c":[{"Provided_By__c":"ORPHA:1214","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0008065","HPO_Synonym__c":"Absent/small skin; Absent/underdeveloped skin","HPO_Name__c":"Aplasia/Hypoplasia of the skin","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1214","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"A growth pattern that displays an abnormal difference between the left and the right side.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0100555","HPO_Synonym__c":"Uneven or disproportionate growth of one body part compared to another","HPO_Name__c":"Asymmetric growth","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1214","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"An abnormal difference between the left and right sides of the face.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000324","HPO_Synonym__c":"Asymmetric facies; Asymmetry of face; Asymmetry of right and left side of face; Crooked face; Facial asymmetry; Unsymmetrical face","HPO_Name__c":"Facial asymmetry","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1214","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0007400","HPO_Name__c":"Irregular hyperpigmentation","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1214","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Abnormality originating in one or more muscles, i.e., of the set of muscles of body.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003011","HPO_Synonym__c":"Muscular abnormality","HPO_Name__c":"Abnormality of the musculature","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1214","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"An eye that is more deeply recessed into the plane of the face than is typical.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000490","HPO_Synonym__c":"Deep set eye; Deep-set eyes; Deeply set eye; Enophthalmos; Ocular depression; Sunken eye; Sunken eyes","HPO_Name__c":"Deeply set eye","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1214","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":"ORPHA:1214","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"A seizure is an intermittent abnormality of nervous system physiology characterized by a transient occurrence of signs and/or symptoms due to abnormal excessive or synchronous neuronal activity in the brain.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001250","HPO_Synonym__c":"Epileptic seizure; Seizures","HPO_Name__c":"Seizure","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1214","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Heterochromia iridis is a difference in the color of the iris in the two eyes.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001100","HPO_Synonym__c":"Different colored eyes; Heterochromia irides","HPO_Name__c":"Heterochromia iridis","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1214","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"The upper eyelid margin is positioned 3 mm or more lower than usual and covers the superior portion of the iris (objective); or, the upper lid margin obscures at least part of the pupil (subjective).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000508","HPO_Synonym__c":"Blepharoptosis; Drooping upper eyelid; Eyelid ptosis; Palpebral ptosis","HPO_Name__c":"Ptosis","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1214","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Any abnormality of the mandible, the bone of the lower jaw.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000277","HPO_Synonym__c":"Abnormality of the lower jaw bone; Abnormality of the mandible","HPO_Name__c":"Abnormal mandible morphology","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}}],"tags":{"Disease Category":["Neurology"],"Specialist":["Neurology","Epilepsy","Pediatrics"],"Account":["Epilepsy"]},"synonyms":["atrophy of half of face"," atrophy of one side of the face"," facial trophoneurosis"," hemifacial atrophy"," parry romberg syndrome"," parry-romberg syndrome"," pha"," progressive facial hemiatrophy"," progressive hemifacial atrophy"," romberg syndrome"],"spanishId":13462,"spanishName":"atrofia-hemifacial-progresiva"}