{"Name":"Isolated anophthalmia-microphthalmia syndrome","DiseaseID__c":"GARD:0012085","id":12085,"encodedName":"isolated-anophthalmia-microphthalmia-syndrome","IsDeleted":false,"Disease_Name_Full__c":"Isolated anophthalmia-microphthalmia syndrome","Xref_IDs__c":"C5679828; MEDGEN:1826144; MONDO:0016764; OMIM:251600; ORPHA:2542","USA_Estimate__c":"50,000","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":"80,000 to 800,000","No_of_HRSA_records__c":0,"Evidence_Based_Score__c":0,"No_of_Disease_Descriptions__c":2,"Disease_Characteristics_Score__c":6,"No_of_Age_at_Onset__c":2,"Description_Source__c":"MONDO:0016764","Disease_Description__c":"A non-syndromic group of structural developmental eye defects characterized by the variable combination of microphthalmia, ocular coloboma, and anophthalmia, either unilaterally or bilaterally, with no other associated ocular conditions in the affected/contralateral eye, and no systemic anomalies.","GARD_Name__c":"Isolated anophthalmia-microphthalmia syndrome","GARD_Synonym__c":"isolated microphthalmia-anophthalmia-coloboma; mac spectrum; microphthalmia-anophthalmia-coloboma spectrum; nonsyndromic anophthalmia-microphthalmia syndrome","Curated_Disease_Description_Source__c":"MONDO:0016764","Curated_Disease_Description__c":"A non-syndromic group of structural developmental eye defects characterized by the variable combination of microphthalmia, ocular coloboma, and anophthalmia, either unilaterally or bilaterally, with no other associated ocular conditions in the affected/contralateral eye, and no systemic anomalies.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"50,000","Age_at_Onset_Snippet_Text__c":"during Pregnancy and as a Newborn","SourceID__c":"ORPHA:2542","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Grouping","MONDO_ID__c":"MONDO:0016764","ORPHANET_ID__c":"ORPHA:2542","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Microftalmia-anoftalmia-coloboma aislados","Spanish_Description_Source__c":"ORPHA:2542","Spanish_Description__c":"Es un grupo no sindrómico de defectos estructurales del desarrollo del ojo caracterizado por la combinación variable de microftalmia, coloboma ocular y anoftalmia, ya sea uni-o bilateralmente, sin otras afecciones oculares asociadas en el ojo afectado/ contralateral y sin anomalías sistémicas.","Spanish_Disease_Name__c":"microftalmia-anoftalmia-coloboma aislados","Spanish_GARD_Synonym__c":"anoftalmia-microftalmia aisladas","Category_Linearization__c":"ORPHA:97966","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":"A non-syndromic group of structural developmental eye defects characterized by the variable combination of microphthalmia, ocular coloboma, and anophthalmia, either unilaterally or bilaterally, with no other associated ocular conditions in the affected/contralateral eye, and no systemic anomalies.","Curated_Disease_Description_Source__c":"MONDO:0016764","GARD_Synonym__c":"isolated microphthalmia-anophthalmia-coloboma; mac spectrum; microphthalmia-anophthalmia-coloboma spectrum; nonsyndromic anophthalmia-microphthalmia syndrome","Name":"Isolated anophthalmia-microphthalmia syndrome","Curated_USA_Estimate__c":"50,000","estimateUsa":"50,000"}],"GARD_Disease_Tag__c":[{"Tag_Name__c":"Genetics","Tag_Category__c":"Cause;Disease Category;Specialist","category_description":"Genetic diseases affect the DNA, or genetic instructions, which directs how tissues, organs, and body systems function.","curated_tag_name":"Genetic diseases"},{"Tag_Name__c":"Ophthalmology","Tag_Category__c":"Specialist"},{"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":"Pediatrics","Tag_Category__c":"Specialist"}],"Age_At_Onset__c":[{"Age_At_Onset__c":"Antenatal","Provided_By__c":"ORPHA:2542"},{"Age_At_Onset__c":"Neonatal","Provided_By__c":"ORPHA:2542"}],"External_Identifier_Disease__c":[{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=1826144","Source__c":"C5679828","Xref__c":"MEDGEN:1826144"},{"URL__c":"https://www.orpha.net/en/disease/detail/2542","Source__c":"C5679828; MONDO:0016764; ORPHA:2542","Xref__c":"ORPHA:2542"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C5679828","Source__c":"C5679828","Xref__c":"C5679828"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0016764","Source__c":"GARD:0012085","Xref__c":"MONDO:0016764"},{"URL__c":"https://www.omim.org/entry/251600","Source__c":"ORPHA:2542","Xref__c":"OMIM:251600"}],"Inheritance__c":["X-linked recessive","Autosomal dominant","Autosomal recessive"],"GARD_Disease_Feature__c":[{"Provided_By__c":"OMIM:251600","Feature__r":{"HPO_Description__c":"Absence of the globe or eyeball.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000528","HPO_Synonym__c":"Absence of eyeballs; Absence of globes of eyes; Anophthalmia, clinical; Clinical anophthalmia, unilateral/bilateral; Failure of development of eyeball; Missing eyeball; Missing globe of eye; No eyeball; No globe of eye; Ocular absence","HPO_Name__c":"Anophthalmia","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:251600","Feature__r":{"HPO_Description__c":"A severe form of hypermetropia with over +5.00 diopters.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0008499","HPO_Synonym__c":"High hyperopia; High-grade hypermetropia; Severe farsightedness; Severe long-sightedness","HPO_Name__c":"High hypermetropia","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:251600","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":"OMIM:251600","Feature__r":{"HPO_Description__c":"Glaucoma refers loss of retinal ganglion cells in a characteristic pattern of optic neuropathy usually associated with increased intraocular pressure.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000501","HPO_Name__c":"Glaucoma","HPO_Feature_Type__c":"Symptom"}}],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics","Congenital Abnormality"],"Specialist":["Genetics","Ophthalmology","Pediatrics"]},"synonyms":["isolated microphthalmia-anophthalmia-coloboma"," mac spectrum"," microphthalmia-anophthalmia-coloboma spectrum"," nonsyndromic anophthalmia-microphthalmia syndrome"]}