{"Name":"Maternal uniparental disomy of chromosome 6","DiseaseID__c":"GARD:0019333","id":19333,"encodedName":"maternal-uniparental-disomy-of-chromosome-6","IsDeleted":false,"Disease_Name_Full__c":"Maternal uniparental disomy of chromosome 6","Xref_IDs__c":"766239009; C4707720; MEDGEN:1638411; MONDO:0019912; ORPHA:96181","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":7,"No_of_Age_at_Onset__c":2,"Description_Source__c":"MONDO:0019912","Disease_Description__c":"Maternal uniparental disomy of chromosome 6 is an uniparental disomy of maternal origin characterized by intrauterine growth retardation. Homozygosity for a recessive disease mutation for which only a mother is a carrier may lead to other phenotypes.","GARD_Name__c":"Maternal uniparental disomy of chromosome 6","GARD_Synonym__c":"maternal uniparental disomy of chromosome type 6; upd(6)mat","Curated_Disease_Description_Source__c":"ORPHA:96181","Curated_Disease_Description__c":"Maternal uniparental disomy of chromosome 6 is a uniparental disomy of maternal origin characterized by intrauterine growth retardation. Homozygosity for a recessive disease mutation for which only the mother is a carrier may lead to other phenotypes.","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:96181","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0019912","ORPHANET_ID__c":"ORPHA:96181","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Síndrome de disomía uniparental materna del cromosoma 6","Spanish_Description_Source__c":"ORPHA:96181","Spanish_Description__c":"La disomía uniparental materna del cromosoma 6 es una disomía uniparental de origen materno caracterizada por un retraso del crecimiento intrauterino. La mutación en homocigosis de la enfermedad recesiva para la que sólo la madre es portadora, puede conducir a otros fenotipos.","Spanish_Disease_Name__c":"síndrome de disomía uniparental materna del cromosoma 6","Spanish_GARD_Synonym__c":"upd(6)mat","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":"Maternal uniparental disomy of chromosome 6 is a uniparental disomy of maternal origin characterized by intrauterine growth retardation. Homozygosity for a recessive disease mutation for which only the mother is a carrier may lead to other phenotypes.","Curated_Disease_Description_Source__c":"ORPHA:96181","GARD_Synonym__c":"maternal uniparental disomy of chromosome type 6; upd(6)mat","Name":"Maternal uniparental disomy of chromosome 6","Curated_USA_Estimate__c":"1,000","estimateUsa":"1,000"}],"Organization_Supported_Diseases__c":[{"Account_Name__c":"Chromosome Disorder Outreach","Website__c":"https://chromodisorder.org/"},{"Account_Name__c":"Unique","Website__c":"https://rarechromo.org/"}],"GARD_Disease_Tag__c":[{"Tag_Name__c":"Chromosomal Anomaly","Tag_Category__c":"Account;Cause","curated_tag_name":"Chromosome disorders"},{"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":"Pediatrics","Tag_Category__c":"Specialist"}],"Age_At_Onset__c":[{"Age_At_Onset__c":"Neonatal","Provided_By__c":"ORPHA:96181"},{"Age_At_Onset__c":"Antenatal","Provided_By__c":"ORPHA:96181"}],"External_Identifier_Disease__c":[{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C4707720","Source__c":"C4707720","Xref__c":"C4707720"},{"URL__c":"https://www.orpha.net/en/disease/detail/96181","Source__c":"C4707720; MONDO:0019912; ORPHA:96181","Xref__c":"ORPHA:96181"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=766239009","Source__c":"C4707720; MONDO:0019912","Xref__c":"766239009"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=1638411","Source__c":"C4707720","Xref__c":"MEDGEN:1638411"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0019912","Source__c":"GARD:0019333","Xref__c":"MONDO:0019912"}],"GARD_Disease_Feature__c":[{"Provided_By__c":"ORPHA:96181","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"An inherited retinal disease subtype in which the rod photoreceptors appear to be more severely affected than the cone photoreceptors. Typical presentation is with nyctalopia (due to rod dysfunction) followed by loss of mid-peripheral field of vision, which gradually extends and leaves many patients with a small central island of vision due to the preservation of macular cones.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000510","HPO_Synonym__c":"Retinitis pigmentosa; Rod cone dystrophy","HPO_Name__c":"Rod-cone dystrophy","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:96181","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Any abnormality of the electrical responses of various cell types in the retina as measured by electroretinography.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000512","HPO_Synonym__c":"Abnormal electroretinography; Abnormal ERG; ERG abnormal","HPO_Name__c":"Abnormal electroretinogram","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:96181","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Facial contour, as viewed from the front, triangular in shape, with breadth at the temples and tapering to a narrow chin.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000325","HPO_Synonym__c":"Face with broad temples and narrow chin; Inverted triangular face; Triangular face; Triangular facial shape; Triangular facies","HPO_Name__c":"Triangular face","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:96181","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"An increase in size of the ventricular system of the brain.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002119","HPO_Synonym__c":"Cerebral ventricular dilatation; Dilated cerebral ventricle; Dilated cerebral ventricles; Dilated ventricles; Enlarged cerebral ventricles; Enlarged ventricles; Enlarged ventricular system; Large cerebral ventricles and cisternae; Ventricular dilatation","HPO_Name__c":"Ventriculomegaly","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:96181","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"A reduction in the number of circulating thrombocytes.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001873","HPO_Synonym__c":"Low platelet count","HPO_Name__c":"Thrombocytopenia","Feature_System__c":"Blood and Blood-Forming Tissue","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:96181","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A type of motor delay characterized by a delay in acquiring the ability to control the large muscles of the body for walking, running, sitting, and crawling.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002194","HPO_Synonym__c":"Delayed attainment of gross motor milestones; Delayed attainment of gross motor skills; Delayed development of gross motor milestones; Delayed development of gross motor skills; Delayed gross motor milestones; Delayed gross motor skills; Delayed motor skills; Developmental delay, gross motor; Gross motor delay; Limited gross motor development; Limited gross motor skills","HPO_Name__c":"Delayed gross motor development","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:96181","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Eczema is a form of dermatitis that is characterized by scaly, pruritic, erythematous lesions located on flexural surfaces.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000964","HPO_Synonym__c":"Eczema","HPO_Name__c":"Eczematoid dermatitis","Feature_System__c":"Skin System; Immune System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:96181","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"An elevated circulating testosterone level in the blood.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0030088","HPO_Synonym__c":"High serum testosterone level; High serum testosterone levels; Increased serum testosterone levels","HPO_Name__c":"Increased serum testosterone level","Feature_System__c":"Endocrine System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:96181","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Failure of the immune system to protect the body adequately from infection, due to the absence or insufficiency of some component process or substance.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002721","HPO_Synonym__c":"Decreased immune function; Immune deficiency","HPO_Name__c":"Immunodeficiency","Feature_System__c":"Immune System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:96181","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Protrusion of the contents of the abdominal cavity through the inguinal canal.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000023","HPO_Name__c":"Inguinal hernia","Feature_System__c":"Musculoskeletal System; Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:96181","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Accumulation of clear fluid in the between the layers of membrane (tunica vaginalis) surrounding the testis.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000034","HPO_Synonym__c":"Testicular hydrocele","HPO_Name__c":"Hydrocele testis","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:96181","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"An abnormal restriction of fetal growth with fetal weight below the tenth percentile for gestational age.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001511","HPO_Synonym__c":"Fetal growth restriction; FGR; In utero growth retardation; Intrauterine growth failure; Intrauterine growth restriction; Intrauterine growth retardation, IUGR; Intrauterine retardation; IUGR; Prenatal growth deficiency; Prenatal growth failure; Prenatal growth retardation; Prenatal onset growth retardation; Prenatal-onset growth retardation; Small for gestational age infant","HPO_Name__c":"Intrauterine growth retardation","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:96181","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"A reduction of previously attained ability to see.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000529","HPO_Synonym__c":"Loss of visual acuity; Progressive loss of vision; Progressive vision loss; Progressive visual acuity loss; Progressive visual impairment; Slowly progressive visual loss; Vision loss, progressive; Visual loss, progressive","HPO_Name__c":"Progressive visual loss","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:96181","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Reduced diameter of a long bone.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003100","HPO_Synonym__c":"Gracile long bones; Long bones slender; Slender long bone; Slender, gracile long tubular bones; Thin long bones; Thin, gracile long bones","HPO_Name__c":"Slender long bone","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:96181","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Hypertrophy of the clitoris.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0008665","HPO_Synonym__c":"Clitoral enlargement; Clitoromegaly; Enlarged clitoris; Hypertrophic clitoris; Prominent clitoris","HPO_Name__c":"Clitoral hypertrophy","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:96181","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A type of adrenal hyperplasia with congenital onset.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0008258","HPO_Name__c":"Congenital adrenal hyperplasia","Feature_System__c":"Endocrine System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:96181","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002805","HPO_Synonym__c":"Accelerated bone age after puberty","HPO_Name__c":"Accelerated bone age after puberty","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:96181","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Cleft palate is a developmental defect of the palate resulting from a failure of fusion of the palatine processes and manifesting as a separation of the roof of the mouth (soft and hard palate).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000175","HPO_Synonym__c":"Cleft hard and soft palate; Cleft of hard and soft palate; Cleft of palate; Cleft palate; Cleft roof of mouth; Palatoschisis; Uranostaphyloschisis","HPO_Name__c":"Cleft palate","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:96181","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"A gap or groove in the upper lip. This is a congenital defect resulting from nonfusion of tissues of the lip during embryonal development.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000204","HPO_Synonym__c":"Cheiloschisis of upper lip; Cleft upper lip; Harelip","HPO_Name__c":"Cleft upper lip","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:96181","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"The term intellectual disability or intellectual developmental disorder is used to describe significantly sub-average intellectual and adaptive functioning based on clinical assessment and as measured by individually administered, appropriately normed, standardized and validated tests of intellectual functioning and adaptive behavior, with onset during the developmental period from infancy through adolescence.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001249","HPO_Synonym__c":"Intellectual disability; Mental deficiency; Mental retardation; Mental retardation, nonspecific; Mental-retardation; Nonprogressive intellectual disability; Nonprogressive mental retardation","HPO_Name__c":"Intellectual disability","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}}],"tags":{"Account":["Chromosomal Anomaly"],"Cause":["Chromosomal Anomaly","Genetics"],"Disease Category":["Genetics","Congenital Abnormality"],"Specialist":["Genetics","Pediatrics"]},"synonyms":["maternal uniparental disomy of chromosome type 6"," upd(6)mat"]}