{"Name":"Fetal methylmercury syndrome","DiseaseID__c":"GARD:0003575","id":3575,"encodedName":"fetal-methylmercury-syndrome","IsDeleted":false,"Disease_Name_Full__c":"Fetal methylmercury syndrome","Xref_IDs__c":"62110005; C0265376; D020262; MEDGEN:82710; MONDO:0016013; ORPHA:1917","USA_Estimate__c":null,"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":null,"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":2,"Description_Source__c":"MONDO:0016013","Disease_Description__c":"A toxic embryofetopathy characterized by a group of symptoms with unspecific neurologic involvement that may be observed in a foetus or newborn when the mother was exposed during pregnancy to excessive amounts of methylmercury.","GARD_Name__c":"Fetal methylmercury syndrome","GARD_Synonym__c":"fetal methyl mercury syndrome; foetal methyl mercury syndrome; foetal methylmercury syndrome; methyl mercury antenatal infection","Curated_Disease_Description_Source__c":"PlainLanguagePilotV1-Sep23","Curated_Disease_Description__c":"Fetal methylmercury syndrome is a condition that may be observed in a baby before or after it is born. It is caused when the mother is exposed to too much methylmercury during pregnancy. Symptoms may inlude neurologic problems like ataxia, psychomotor delays, and seizures. Cognitive function may also be impacted. It may also be associated with preterm delivery, low birth weight, and impaired growth during the newborn period.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":null,"Age_at_Onset_Snippet_Text__c":"during Pregnancy and as a Newborn","SourceID__c":"ORPHA:1917","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0016013","ORPHANET_ID__c":"ORPHA:1917","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Síndrome del metilmercurio fetal","Spanish_Description_Source__c":"ORPHA:1917","Spanish_Description__c":"Es una embriofetopatía tóxica caracterizada por un grupo de síntomas con afectación neurológica inespecífica que puede observarse en un feto o recién nacido cuando la madre estuvo expuesta a concentraciones elevadas de metilmercurio durante el embarazo.","Spanish_Disease_Name__c":"síndrome del metilmercurio fetal","Spanish_GARD_Synonym__c":"enfermedad de minamata congénita; intoxicación fetal por metilmercurio; intoxicación intrauterina por metilmercurio; intoxicación prenatal por metilmercurio","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":"Fetal methylmercury syndrome is a condition that may be observed in a baby before or after it is born. It is caused when the mother is exposed to too much methylmercury during pregnancy. Symptoms may inlude neurologic problems like ataxia, psychomotor delays, and seizures. Cognitive function may also be impacted. It may also be associated with preterm delivery, low birth weight, and impaired growth during the newborn period.","Curated_Disease_Description_Source__c":"PlainLanguagePilotV1-Sep23","GARD_Synonym__c":"fetal methyl mercury syndrome; foetal methyl mercury syndrome; foetal methylmercury syndrome; methyl mercury antenatal infection","Name":"Fetal methylmercury syndrome","estimateUsa":""}],"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":"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":"Antenatal","Provided_By__c":"ORPHA:1917"},{"Age_At_Onset__c":"Neonatal","Provided_By__c":"ORPHA:1917"}],"External_Identifier_Disease__c":[{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C020262","Source__c":"MONDO:0016013","Xref__c":"D020262"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=82710","Source__c":"C0265376","Xref__c":"MEDGEN:82710"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=62110005","Source__c":"C0265376; MONDO:0016013","Xref__c":"62110005"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C0265376","Source__c":"C0265376","Xref__c":"C0265376"},{"URL__c":"https://www.orpha.net/en/disease/detail/1917","Source__c":"MONDO:0016013","Xref__c":"ORPHA:1917"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0016013","Source__c":"GARD:0003575","Xref__c":"MONDO:0016013"}],"GARD_Disease_Feature__c":[{"Provided_By__c":"ORPHA:1917","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Head circumference below 2 standard deviations below the mean for age and sex.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000252","HPO_Synonym__c":"Abnormally small cranium; Abnormally small skull; Decreased circumference of cranium; Decreased size of cranium; Decreased size of skull; Reduced head circumference; small cranium; Small head circumference","HPO_Name__c":"Microcephaly","Feature_System__c":"Nervous System; Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1917","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Visual impairment (or vision impairment) is vision loss (of a person) to such a degree as to qualify as an additional support need through a significant limitation of visual capability resulting from either disease, trauma, or congenital or degenerative conditions that cannot be corrected by conventional means, such as refractive correction, medication, or surgery.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000505","HPO_Synonym__c":"Impaired vision; Loss of eyesight; Poor vision; Visual impairment","HPO_Name__c":"Visual impairment","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1917","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"A height below that which is expected according to age and sex norms. Although there is no universally accepted definition of short stature, many refer to \\\"short stature\\\" as height more than 2 standard deviations below the mean for age and sex (or below the 3rd percentile for age and sex dependent norms).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0004322","HPO_Synonym__c":"Decreased body height; Height less than 3rd percentile; Short stature; Small stature; Stature below 3rd percentile","HPO_Name__c":"Short stature","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1917","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"A decreased magnitude of the sensory perception of sound.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000365","HPO_Synonym__c":"Deafness; Hearing defect; Hearing impairment; Hypacusis","HPO_Name__c":"Hearing impairment","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1917","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Hypotonia is an abnormally low muscle tone (the amount of tension or resistance to movement in a muscle). Even when relaxed, muscles have a continuous and passive partial contraction which provides some resistance to passive stretching. Hypotonia thus manifests as diminished resistance to passive stretching. Hypotonia is not the same as muscle weakness, although the two conditions can co-exist.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001252","HPO_Synonym__c":"Low muscle tone; Low or weak muscle tone; Muscle hypotonia; Muscular hypotonia","HPO_Name__c":"Hypotonia","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}}],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics","Congenital Abnormality"],"Specialist":["Genetics","Otolaryngology","Pediatrics"],"Account":["Craniofacial Anomalies"]},"synonyms":["fetal methyl mercury syndrome"," foetal methyl mercury syndrome"," foetal methylmercury syndrome"," methyl mercury antenatal infection"]}