{"Name":"Maternal uniparental disomy of chromosome 2","DiseaseID__c":"GARD:0019331","id":19331,"encodedName":"maternal-uniparental-disomy-of-chromosome-2","IsDeleted":false,"Disease_Name_Full__c":"Maternal uniparental disomy of chromosome 2","Xref_IDs__c":"766237006; C4707718; MEDGEN:1631626; MONDO:0019910; ORPHA:96179","USA_Estimate__c":null,"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":null,"No_of_HRSA_records__c":0,"Evidence_Based_Score__c":0,"No_of_Disease_Descriptions__c":2,"Disease_Characteristics_Score__c":7,"No_of_Age_at_Onset__c":2,"Description_Source__c":"MONDO:0019910","Disease_Description__c":"Maternal uniparental disomy of chromosome 2 is an uniparental disomy of maternal origin that most likely does not have any phenotypic expression except from cases of homozygosity for a recessive disease mutation for which only mother is a carrier.","GARD_Name__c":"Maternal uniparental disomy of chromosome 2","GARD_Synonym__c":"maternal uniparental disomy of chromosome type 2; upd(2)mat","Curated_Disease_Description_Source__c":"ORPHA:96179","Curated_Disease_Description__c":"Maternal uniparental disomy of chromosome 2 is a uniparental disomy of maternal origin that most likely does not have any phenotypic expression except in cases of homozygosity for a recessive disease mutation for which only the mother is a carrier.","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:96179","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0019910","ORPHANET_ID__c":"ORPHA:96179","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Síndrome de disomía uniparental materna del cromosoma 2","Spanish_Description_Source__c":"ORPHA:96179","Spanish_Description__c":"La disomía uniparental materna del cromosoma 2, es una disomía uniparental de origen materno que probablemente no tenga ninguna expresión fenotípica, excepto en el caso de enfermedades recesivas de las que sólo la madre es portadora y en el que esta disomía implicaría que la mutación estuviese en homocigosis.","Spanish_Disease_Name__c":"síndrome de disomía uniparental materna del cromosoma 2","Spanish_GARD_Synonym__c":"upd(2)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 2 is a uniparental disomy of maternal origin that most likely does not have any phenotypic expression except in cases of homozygosity for a recessive disease mutation for which only the mother is a carrier.","Curated_Disease_Description_Source__c":"ORPHA:96179","GARD_Synonym__c":"maternal uniparental disomy of chromosome type 2; upd(2)mat","Name":"Maternal uniparental disomy of chromosome 2","estimateUsa":""}],"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:96179"},{"Age_At_Onset__c":"Antenatal","Provided_By__c":"ORPHA:96179"}],"External_Identifier_Disease__c":[{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=766237006","Source__c":"C4707718; MONDO:0019910","Xref__c":"766237006"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=1631626","Source__c":"C4707718","Xref__c":"MEDGEN:1631626"},{"URL__c":"https://www.orpha.net/en/disease/detail/96179","Source__c":"C4707718; MONDO:0019910; ORPHA:96179","Xref__c":"ORPHA:96179"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C4707718","Source__c":"C4707718","Xref__c":"C4707718"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0019910","Source__c":"GARD:0019331","Xref__c":"MONDO:0019910"}],"GARD_Disease_Feature__c":[{"Provided_By__c":"ORPHA:96179","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Respiratory difficulty as newborn.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002643","HPO_Synonym__c":"Infantile respiratory distress; Neonatal respiratory distress; Newborn respiratory distress; Respiratory distress, neonatal","HPO_Name__c":"Neonatal respiratory distress","Feature_System__c":"Respiratory system","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:96179","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A general term describing features characterized by abnormal development of bones and connective tissues.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002652","HPO_Name__c":"Skeletal dysplasia","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:96179","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Absence of both testes from the scrotum owing to failure of the testis or testes to descend through the inguinal canal to the scrotum.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0008689","HPO_Synonym__c":"Cryptorchidism, bilateral","HPO_Name__c":"Bilateral cryptorchidism","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:96179","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A reduction in the level of performance of the kidneys in areas of function comprising the concentration of urine, removal of wastes, the maintenance of electrolyte balance, homeostasis of blood pressure, and calcium metabolism.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000083","HPO_Synonym__c":"Renal failure; Renal failure in adulthood","HPO_Name__c":"Renal insufficiency","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:96179","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Slow or limited growth after birth.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0008897","HPO_Synonym__c":"Growth delay as children; Growth retardation as children; Postnatal growth deceleration; Postnatal growth deficiency; Postnatal growth failure","HPO_Name__c":"Postnatal growth retardation","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:96179","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002089","HPO_Synonym__c":"Hypoplastic lung; Hypoplastic lungs; Lung hypoplasia; Poorly developed lungs; Small lung; Underdeveloped lung","HPO_Name__c":"Pulmonary hypoplasia","Feature_System__c":"Respiratory system","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:96179","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"An anomaly of the joint that connects the foot with the leg.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003028","HPO_Synonym__c":"Abnormality of the ankles","HPO_Name__c":"Abnormality of the ankle","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:96179","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Any abnormality of the atlas and the axis.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0008440","HPO_Name__c":"C1-C2 vertebral abnormality","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:96179","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A nonspecific term denoting progressive loss of the retinal pigment epithelium (RPE) and/or neurosensory retinal cells.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000546","HPO_Synonym__c":"Retina degeneration","HPO_Name__c":"Retinal degeneration","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:96179","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A foot where the longitudinal arch of the foot is in contact with the ground or floor when the individual is standing; or, in a patient lying supine, a foot where the arch is in contact with the surface of a flat board pressed against the sole of the foot by the examiner with a pressure similar to that expected from weight bearing; or, the height of the arch is reduced.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001763","HPO_Synonym__c":"Flat feet; Flat foot","HPO_Name__c":"Pes planus","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:96179","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Supernumerary digits located at the radial side of the hand. Polydactyly (supernumerary digits) involving the thumb occurs in many distinct forms of high variability and severity. Ranging from fleshy nubbins over varying degrees of partial duplication/splitting to completely duplicated or even triplicated thumbs or preaxial (on the radial side of the hand) supernumerary digits.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001177","HPO_Synonym__c":"Extra thumb; Polydactyly affecting the thumb; Preaxial polydactyly of hands; Supernumerary thumb; thumb polydactyly","HPO_Name__c":"Preaxial hand polydactyly","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:96179","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Abnormality of the amniotic fluid, which is the fluid contained in the amniotic sac surrounding the developing fetus.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001560","HPO_Synonym__c":"Abnormal amniotic fluid","HPO_Name__c":"Abnormality of the amniotic fluid","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:96179","HPO_Frequency__c":"Occasional (5-29%)","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:96179","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A congenital anomaly of the penis characterized by ventral (i.e., downward), lateral, or ventrolateral curvature of the shaft and glans penis of more than 30 degrees.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000041","HPO_Name__c":"Chordee","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:96179","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Clinodactyly refers to a bending or curvature of the fifth finger in the radial direction (i.e., towards the 4th finger).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0004209","HPO_Synonym__c":"Bilateral fifth digit clinodactyly; Bilateral fifth finger clinodactyly; Clinodactyly of fifth digit; Clinodactyly of the little finger; Fifth finger clinodactyly; Permanent curving of the pinkie finger","HPO_Name__c":"Clinodactyly of the 5th finger","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:96179","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Insufficient responses to growth hormone (GH) provocation tests. GH deficiency is defined as a serum peak GH concentration less than 10 ng/mL on provocation with a combination of at least two separate stimulation tests.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000824","HPO_Name__c":"Decreased response to growth hormone stimulation test","Feature_System__c":"Nervous System; Endocrine System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:96179","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Increased susceptibility to respiratory infections in early life, as manifested by recurrent episodes of respiratory infections.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0004880","HPO_Name__c":"Respiratory infections in early life","Feature_System__c":"Respiratory system; Immune System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:96179","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Amenorrhea due to loss of ovarian function before the age of 40. Primary ovarian insuficiency (POI) is a state of female hypergonadotropic hypogonadism. It can manifest as primary amenorrhea with onset before menarche or secondary amenorrhea.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0008209","HPO_Synonym__c":"Climacterium praecox; Early menopause; Hypergonadotropic amenorrhea; Menopause praecox; Premature menopause; Premature ovarian failure; Primary ovarian insufficiency","HPO_Name__c":"Premature ovarian insufficiency","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:96179","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Diminished amniotic fluid volume in pregnancy.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001562","HPO_Synonym__c":"Low levels of amniotic fluid; Maternal oligohydramnios","HPO_Name__c":"Oligohydramnios","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:96179","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"An elevation of alpha-feto protein measured in the amniotic fluid.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0004639","HPO_Synonym__c":"Elevated amniotic fluid alpha fetal protein; Elevated amniotic fluid alpha-1-fetoprotein; Elevated amniotic fluid alpha-fetoglobulin","HPO_Name__c":"Elevated amniotic fluid alpha-fetoprotein","HPO_Feature_Type__c":"Lab"}},{"Provided_By__c":"ORPHA:96179","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Abnormal position of urethral meatus on the ventral penile shaft (underside) characterized by displacement of the urethral meatus from the tip of the glans penis to the ventral surface of the penis, scrotum, or perineum.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000047","HPO_Synonym__c":"Hypospadia","HPO_Name__c":"Hypospadias","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:96179","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0005781","HPO_Name__c":"Contractures of the large joints","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:96179","HPO_Frequency__c":"Uncommon (<1-4%)","Feature__r":{"HPO_Description__c":"A delay in the achievement of motor or mental milestones in the domains of development of a child, including motor skills, speech and language, cognitive skills, and social and emotional skills. This term should only be used to describe children younger than five years of age.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001263","HPO_Synonym__c":"Delayed cognitive development; Delayed development; Delayed developmental milestones; Delayed intellectual development; Delayed milestones; Delayed psychomotor development; Developmental delay; Developmental delay in early childhood; Developmental delay, global; Developmental retardation; GDD; Lack of psychomotor development; Motor and developmental delay; Motormental retardation; Psychomotor delay; Psychomotor development deficiency; Psychomotor development failure; Psychomotor developmental delay; Retarded development; Retarded mental development; Retarded psychomotor development","HPO_Name__c":"Global developmental delay","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:96179","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"The presence of developmental dysplasia of the kidney.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000110","HPO_Synonym__c":"Dysplastic kidneys; Renal adysplasia","HPO_Name__c":"Renal dysplasia","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:96179","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Deficiency of thyroid hormone.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000821","HPO_Synonym__c":"Low T4; Underactive thyroid","HPO_Name__c":"Hypothyroidism","Feature_System__c":"Endocrine System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:96179","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"The birth of a baby of less than 37 weeks of gestational age.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001622","HPO_Synonym__c":"Premature birth; Premature delivery; Premature delivery of affected infants; Preterm birth; Preterm delivery; Shortened gestation time","HPO_Name__c":"Premature birth","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:96179","HPO_Frequency__c":"Very frequent (80-99%)","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"}}],"tags":{"Account":["Chromosomal Anomaly"],"Cause":["Chromosomal Anomaly","Genetics"],"Disease Category":["Genetics","Congenital Abnormality"],"Specialist":["Genetics","Pediatrics"]},"synonyms":["maternal uniparental disomy of chromosome type 2"," upd(2)mat"]}