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D-2-Hydroxyglutaric AciduriaAn 2-hydroxyglutaric aciduria that involves developmental delay, seizures, weak muscle tone (hypotonia), and abnormalities in the largest part of the brain (the cerebrum), which controls many important functions such as D-2-Hydroxyglutaric Aciduria 1A D-2-hydroxyglutaric aciduria that is caused by homozygous or compound heterozygous mutation in D2HGDH on 2q37.3.D-2-Hydroxyglutaric Aciduria 2A D-2-hydroxyglutaric aciduria that is caused by heterozygous mutation in IDH2 on 15q26.1.DacryocystitisAn acute inflammation of lacrimal passage that is characterized by inflammation of the lacrimal sac, causes conjunctivitis and causes purulent discharge.Damseh-Danson Neurodevelopmental DisorderAn autosomal recessive intellectual developmental disability that is characterized by global developmental delay apparent from infancy and that is caused by homozygous or compound heterozygous mutation in the SNX27 gene Dandy-Walker SyndromeA cerebellar disease that is characterized by hypoplasia and upward rotation of the cerebellar vermis and cystic dilation of the fourth ventricle.Danon DiseaseA lysosomal storage disease that is characterized by cardiomyopathy, skeletal myopathy and intellectual disability and is caused by mutations in the LAMP2 gene.Dartoic LeiomyomaA reproductive organ benign neoplasm that is caused by the dartos muscle in the scrotum or labia majora.Davis-Wells SyndromeA syndrome characterized by mild cognitive impairment, dysmorphism featuring oculoauricular abnormalities, and developmental defects involving genitourinary and digestive tracts that is caused by homozygous or compound h D-Bifunctional Protein DeficiencyA peroxisomal disease characterized by, in severe cases, infantile-onset of hypotonia, seizures, and abnormal facial features with most dying before age 2 years that is caused by homozygous or compound heterozygous mutat Deafness, Dystonia, and Cerebral HypomyelinationA syndrome characterized by motor and intellectual disabilities, dystonia, sensorineural deafness, white-matter changes and disorganization of the Golgi apparatus that is caused by heterozygous mutation in the BCAP31 gen Deafness-Dystonia-Optic Neuronopathy SyndromeA mitochondrial metabolism disease that is characterized by hearing loss that begins early in life, problems with movement, impaired vision, and behavior problems, and is caused by mutations in the TIMM8A gene resulting Deafness-Intellectual Disability, Martin-Probst Type SyndromeA syndromic X-linked intellectual disability characterized by severe bilateral deafness, intellectual disability, umbilical hernia and abnormal dermatoglyphics that is caused by variation on the X chromosome.Decubitus UlcerA chronic ulcer of skin where the ulcer is an ulceration of tissue deprived of adequate blood supply by prolonged pressure.Dedifferentiated ChondrosarcomaA chondrosarcoma that is an aggressive morphologic variant of chondrosarcoma. It is composed of a low grade chondrosarcoma and a high grade non-cartilagenous sarcomatous component.Dedifferentiated LiposarcomaA liposarcoma that is characterized as a high-grade tumor that occurs when a lower-grade tumor changes and creates new high-grade cells.Deep LeiomyomaA leiomyoma that is in deep soft tissue.Deep Vein ThrombosisA blood clot that forms in a deep vein, usually in the leg. Tracking your symptoms and connecting with others who understand can help you manage day to day.Degenerative Disc DiseaseA bone deterioration disease that is caused by gradual dehydration and tears in intervertebral disc.Dehydrated Hereditary StomatocytosisA hemolytic anemia characterized by altered intracellular cation content and cellular dehydration of erythocytes resulting in increased mean corpuscular hemoglobin concentrations and altered cell shapes.Dehydrated Hereditary Stomatocytosis 1A dehydrated hereditary stomatocytosis that is caused by heterozygous mutation in the PIEZO1 gene on chromosome 16q24.3.Dehydrated Hereditary Stomatocytosis 2A dehydrated hereditary stomatocytosis that is caused by heterozygous mutation in the KCNN4 gene on chromosome 19q13.31.Delayed Sleep Phase SyndromeA sleep disorder where sleep is delayed by hours.DeliriumSudden confusion and disorientation, often from illness.Delta Beta-ThalassemiaA beta thalassemia that is characterized by decreased or absent synthesis of both the delta- and beta-globin chains, which leads to a compensatory increase in fetal gamma-chain synthesis. This disorder results in a micro Delta Chain DiseaseA heavy chain disease that results from an overproduction of delta antibody (IgD).Delusional DisorderPersistent false beliefs that are not bizarre in nature.DementiaCaregiver support, daily care, and planning for dementia Demyelinating DiseaseA central nervous system disease that is characterized by damage to the myelin sheath present around nerve axons.Dendritic Cell DeficiencyA primary immunodeficiency disease characterized by impaired function or reduced numbers of dendritic cells.Dendritic Cell SarcomaA histiocytic and dendritic cell cancer that is mainly in lymph nodes.Dengue DiseaseA viral infectious disease that results in infection, is caused by Dengue virus (Orthoflavivirus denguei), which are transmitted by Aedes mosquito bite. The infection has symptom fever, has symptom severe headache, has s Dengue FeverA mosquito-borne viral infection. Tracking your symptoms and connecting with others who understand can help you manage day to day.Dengue Hemorrhagic FeverA dengue disease that occurs when a person experiences a second infection with a heterologous Dengue virus (Orthoflavivirus denguei) serotype, which is transmitted by Aedes mosquito bite. The infection causes hemorrhagic Dengue Shock SyndromeA dengue disease that involves the most severe form of dengue fever, is caused by Dengue virus (Orthoflavivirus denguei), which are transmitted by Aedes mosquito bite. The infection causes easy bruising, causes blood spo Dental AbscessA tooth disease characterized by a localized collection of pus associated with a tooth.Dental CariesA teeth hard tissue disease that is characterized by damage to a tooth that can happen when decay-causing bacteria in your mouth make acids that attack the tooth’s surface, or enamel.Dental FluorosisA tooth disease characterized by enamel discoloration resulting from excess fluoride ingestion during tooth formation.Dental Pulp DiseaseA tooth disease in dental pulp.Dental Pulp NecrosisA dental pulp disease characterized by death of the pulp tissue.Dental Radicular DysplasiaA mouth disease characterized by taurodontism, unseparated roots, long roots, tooth agenesis, torus palatinus, and torus mandibularis that is caused by heterozygous mutation in the KCTD1 gene on chromosome 18q11.Dentatorubral-Pallidoluysian AtrophyAn autosomal dominant cerebellar ataxia that is caused by expansion of CAG triplet repeats (glutamine) encoding a polyglutamine tract in the atrophin-1 protein.Dent DiseaseA renal tubular transport disease that is characterized by tubular proteinuria, hypercalciuria, calcium nephrolithiasis, nephrocalcinosis and chronic kidney failure.Dent Disease 1A Dent disease that is characterized by manifestations of complex proximal tubule dysfunction with low-molecular-weight proteinuria, hypercalciuria, nephrolithiasis, nephrocalcinosis, and progressive renal failure and th Dent Disease 2A Dent disease that is characterized by low molecular weight proteinuria and other features of Fanconi syndrome but typically do not include proximal renal tubular acidosis and that is caused by mutation in the OCRL gene Dentin DysplasiaA teeth hard tissue disease characterized by presence of normal enamel but atypical dentin with abnormal pulpal morphology.Dentin Dysplasia Type IAA dentin dysplasia characterized by oligodontia, microdontia with very globular and malformed teeth and incisal notches, taurodontism of the molar teeth, and short roots that is caused by homozygous mutation in the SMOC2 Dentin Dysplasia Type IBA dentin dysplasia characterized by teeth with crowns that have normal morphology and roots that are short, blunt, and malformed, resulting in tooth hypermobility and subsequent exfoliation of permanent dentition startin Dentin Dysplasia Type ICA dentin dysplasia characterized by tooth crowns that are normal in morphology, form, and color and roots that are short, blunt, and malformed, resulting in severe tooth hypermobility starting in late childhood followed Dentin Dysplasia Type IIA dentin dysplasia characterized by primary teeth with discoloration and obliteration of the pulp chamber, and secondary teeth with normal coloration, pulps shaped like thistles or tubes, and ovoid pulp stones that is ca Dentin Dysplasia with Sclerotic BonesA syndrome characterized by osteosclerosis of all long bones with heavy cortical bone and narrowed or occluded marrow spaces, and apparently pulpless teeth with radiolucent chevrons; short, blunted roots; and radiolucent Dentinogenesis ImperfectaA tooth disease characterized by discolored, opalescent teeth that is caused by mutation in the DSPP gene on chromosome 4q22.Denys-Drash SyndromeA syndrome that is characterized by the association of diffuse mesangial sclerosis (DMS), male pseudohermaphroditism with a 46,XY karyotype, and nephroblastoma that arises from an abnormality in the WT1 gene (Wilms' tumo Dependent Personality DisorderA personality disorder that is characterized by a pervasive psychological dependence on other people.Depersonalization DisorderA dissociative disorder in which the sufferer is affected by persistent or recurrent feelings of depersonalization and/or derealization.DepressionMood, routines, and peer support with moderated crisis resources Depressive DisorderA mood disorder characterized by persistent sadness, emptiness, or irritability and decreased ability to function.Deprivation AmblyopiaAn amblyopia that is characterized by a structural anomaly that impairs vision like a droopy eyelid or an opacity in the eye, such as a cataract or corneal scar.DermatitisSkin inflammation with itching and redness.Dermatofibrosarcoma ProtuberansA fibrosarcoma that is in the dermis laryer of the skin and that begins as a hard nodule and grows slowly.DermatographiaA physical urticaria induced by stroking of the skin.DermatomycosisA cutaneous mycosis that results in fungal infection located in skin or of its appendages, is caused by Ascomycota fungi other than the dermatophytes.DermatomyositisA rare inflammatory disease causing skin rash and muscle weakness.Dermatopathia Pigmentosa ReticularisAn ectodermal dysplasia characterized by reticulate hyperpigmentation, noncicatricial alopecia, and onychodystrophy that is caused by heterozygous mutation in the KRT14 gene on chromosome 17q21.2.DermatophytosisA cutaneous mycosis that causes fungal infection in scalp, in glabrous skin, or in nail, is caused by Ascomycota fungi that belong to a group called dermatophytes, which have the ability to utilize keratin as a nutrient Dermoid CystA cystic teratoma that is composed exclusively of mature tissues derived from two or three germ layers (ectoderm, mesoderm and endoderm).Dermoid Cyst of OvaryA dermoid cyst that is in the ovary.Dermoid Cyst of SkinA dermoid cyst that is in the skin.De Sanctis-Cacchione SyndromeA xeroderma pigmentosum characterized by xeroderma pigmentosum, short stature, intellectual disabilities, and progressive neurologic degeneration.DeSanto-Shinawi SyndromeA syndrome that is characterized by global developmental delay apparent in infancy or early childhood and associated with characteristic dysmorphic facial features, such as broad forehead, depressed nasal bridge with bul Desbuquois DysplasiaAn osteochondrodysplasia characterized by short stature, joint laxity, scoliosis, and advanced carpal ossification with a delta phalanx.Desmoid TumorA connective tissue benign neoplasm that occur most often in the abdomen, arms and legs.Desmoplastic Infantile Ganglioglioma / Desmoplastic Infantile AstrocytomaA ganglioglioma occurring predominantly in the cerebral hemispheres of infants, that are driven by MAPK pathway activation and composed of a mixed astrocytic and neuronal component (DIG) or an astrocytic component only (Desmoplastic/Nodular MedulloblastomaA medulloblastoma that is characterized by the presence of nodular, collagenous areas which do not contain reticulin, surrounded by hypercellular areas which contain an intercellular reticulin fiber network.Desmoplastic Small Round Cell TumorA small cell sarcoma that is characterized by a recurrent chromosomal translocation t(11;22)(p13;q12) and the presence of small round cells in a desmoplastic stroma. It usually affects children and young adults. The most DesmosterolosisA lipid metabolism disorder characterized by multiple congenital anomalies, developmental delay, intellectual disability, and elevated levels of the cholesterol precursor desmosterol that is caused by homozygous or compo Desquamative Interstitial PneumoniaAn idiopathic interstitial pneumonia that is characterized by the accumulation of bronchiolocentric alveolar macrophages in alveolar spaces and interstitial inflammation and involves mild bronchiolar fibrosis and chronic Developmental and Epileptic EncephalopathyAn electroclinical syndrome characterized by epileptiform activity and at least one other pathology that together contribute to cognitive and behavioral impairments including developmental delay or regression with onset Developmental and Epileptic Encephalopathy 1A developmental and epileptic encephalopathy characterized by X-linked recessive inheritance of frequent tonic seizures or spasms beginning in infancy that is caused by mutation in the ARX gene on chromosome Xp21.Developmental and Epileptic Encephalopathy 100A developmental and epileptic encephalopathy characterized by onset of variable types of seizures in the first months or years of life preceded by global developmental delay that is caused by heterozygous mutation in the Developmental and Epileptic Encephalopathy 101A developmental and epileptic encephalopathy characterized by early infantile epileptic encephalopathy and severe global developmental delay that is caused by homozygous mutation in the GRIN1 gene on chromosome 9q34.Developmental and Epileptic Encephalopathy 102A developmental and epileptic encephalopathy characterized by global developmental delay and severe to profoundly impaired intellectual development with inability to walk or speak that is caused by homozygous or compound Developmental and Epileptic Encephalopathy 103A developmental and epileptic encephalopathy characterized by onset of various types of seizures in the first year of life that is caused by heterozygous mutation in the KCNC2 gene on chromosome 12q21.Developmental and Epileptic Encephalopathy 104A developmental and epileptic encephalopathy characterized by developmental delay in the first few months of life and drug-resistant focal and generalized tonic-clonic seizures that is caused by heterozygous mutation in Developmental and Epileptic Encephalopathy 105A developmental and epileptic encephalopathy characterized by onset of seizures and pituitary insufficiency in the first weeks or months of life with profoundly impaired development that is caused by homozygous or compou Developmental and Epileptic Encephalopathy 106A developmental and epileptic encephalopathy characterized by onset of various types of frequent seizures within the first year of life and profound global developmental delay with limited ability to move and absent spee Developmental and Epileptic Encephalopathy 107A developmental and epileptic encephalopathy characterized by onset of seizures in the first months of life, severe global developmental delay, profound intellectual disability, progressive microcephaly, and hypotonia th Developmental and Epileptic Encephalopathy 108A developmental and epileptic encephalopathy characterized by onset of multiple types of seizures in the first 2 years of life that is caused by heterozygous mutation in the MAST3 gene on chromosome 19p13.Developmental and Epileptic Encephalopathy 109A developmental and epileptic encephalopathy characterized by onset of various types of seizures in the first months or years of life that is caused by heterozygous mutation in the FZR1 gene on chromosome 19p13.Developmental and Epileptic Encephalopathy 11A developmental and epileptic encephalopathy characterized by infantile onset of refractory seizures, delayed neurologic development, and persistent neurologic abnormalities that is caused by heterozygous mutation in the Developmental and Epileptic Encephalopathy 110A developmental and epileptic encephalopathy characterized by profound global developmental delay and hypotonia apparent in infancy followed by onset of seizures in the first months or years of life that is caused by hom Developmental and Epileptic Encephalopathy 111A developmental and epileptic encephalopathy that is characterized by early-onset refractory seizures, global developmental delay, hypotonia, impaired gross motor development, impaired intellectual development, and absen Developmental and Epileptic Encephalopathy 112A developmental and epileptic encephalopathy that is characterized by a wide range of seizure types, including focal and generalized seizures and that is caused by heterozygous mutation in the KCNH5 gene on chromosome 14 Developmental and Epileptic Encephalopathy 113A developmental and epileptic encephalopathy that is characterized by severe early-onset recurrent epilepsy, which is worsened by treatment with levetiracetam and that is caused by homozygous mutation in the SV2A gene on Developmental and Epileptic Encephalopathy 114A developmental and epileptic encephalopathy that is characterized by moderately to severely impaired intellectual development, onset of epilepsy within the first 18 months of life, and a choreiform, dystonic, or dyskine Developmental and Epileptic Encephalopathy 115A developmental and epileptic encephalopathy that is characterized by severe developmental delay and epileptic encephalopathy, massive reduction of white matter, hypo-/aplasia of the corpus callosum, neurodevelopmental a Developmental and Epileptic Encephalopathy 116A developmental and epileptic encephalopathy characterized by severe developmental delay, seizures, and white matter abnormalities but normal plasma and cerebrospinal fluid biochemistry that is caused by heterozygous mut Developmental and Epileptic Encephalopathy 117A developmental and epileptic encephalopathy that is characterized by global developmental delay, hypotonia, delayed walking or inability to walk, and variably impaired intellectual development with poor or absent speech Developmental and Epileptic Encephalopathy 118A developmental and epileptic encephalopathy that is characterized by early-onset refractory epilepsy, severe global developmental delay usually with absent speech, hypotonia evolving to spastic quadriparesis, nystagmus,Developmental and Epileptic Encephalopathy 119A developmental and epileptic encephalopathy that is characterized by global developmental delay, impaired intellectual development, microcephaly, autistic behavior, and seizures and that is caused by heterozygous mutati Developmental and Epileptic Encephalopathy 12A developmental and epileptic encephalopathy characterized by onset of refractory seizures in the first year of life with normal to mild developmental delay before onset of seizures but developmental regression and stagn Developmental and Epileptic Encephalopathy 120A developmental and epileptic encephalopathy that is characterized by severe infantile epilepsy, developmental delay, and intellectual disability and that is caused by heterozygous mutation in the BAIAP2 gene on chromoso Developmental and Epileptic Encephalopathy 121A developmental and epileptic encephalopathy that is characterized by neonatal- or infantile-onset epilepsy, global developmental delay or intellectual disability, and death in infancy, childhood, or early adulthood and Developmental and Epileptic Encephalopathy 122A developmental and epileptic encephalopathy that is characterized by infantile hypotonia, severe neurodevelopmental delay, intractable seizures, and distinct dysmorphic features and that is caused by homozygous mutation Developmental and Epileptic Encephalopathy 13A developmental and epileptic encephalopathy characterized by onset of intractable seizures in the first year of life with impaired development or developmental regression after seizure onset that is caused by heterozygo Developmental and Epileptic Encephalopathy 14A developmental and epileptic encephalopathy characterized by refractory focal seizures developing by 6 months of age and arrest of psychomotor development that is caused by heterozygous mutation in the KCNT1 gene on chr Developmental and Epileptic Encephalopathy 15A developmental and epileptic encephalopathy that is caused by homozygous or compound heterozygous mutation in the ST3GAL3 gene on chromosome 1p34.Developmental and Epileptic Encephalopathy 16A developmental and epileptic encephalopathy characterized by seizure onset in the first weeks or months of life, delayed or regression of psychomotor development, and hypotonia that is caused by homozygous or compound h Developmental and Epileptic Encephalopathy 17A developmental and epileptic encephalopathy characterized by onset in the first weeks or months of life of intractable seizures and very poor psychomotor development that is caused by heterozygous mutation in the GNAO1 Developmental and Epileptic Encephalopathy 18A developmental and epileptic encephalopathy characterized by absence of developmental milestones, dysmorphic facial features, refractory seizures, and thick corpus callosum and persistent cavum septum pellucidum on brai Developmental and Epileptic Encephalopathy 19A developmental and epileptic encephalopathy characterized by onset of seizures in the first year of life and mild to moderate impaired intellectual development that is caused by heterozygous mutation in the GABRA1 gene Developmental and Epileptic Encephalopathy 2A developmental and epileptic encephalopathy characterized by X-linked dominant inheritance of seizure onset in the first months of life, intellectual disability, and poor motor control that is caused by mutation in the Developmental and Epileptic Encephalopathy 21A developmental and epileptic encephalopathy characterized by onset in the first months of life by intractable seizures and severely impaired psychomotor development that is caused by homozygous or compound heterozygous Developmental and Epileptic Encephalopathy 23A developmental and epileptic encephalopathy characterized by onset in the first months of life of intractable seizures, severely impaired psychomotor development with poor or absent speech, cortical blindness, and dysmo Developmental and Epileptic Encephalopathy 24A developmental and epileptic encephalopathy characterized by onset in infancy of refactory seizures, severely impaired global development, intellectual disability, and behavioral abnormalities that is caused by heterozy Developmental and Epileptic Encephalopathy 25A developmental and epileptic encephalopathy characterized by onset in early infancy of refractory seizures, global developmental delay with intellectual disability, persistent neurologic symptoms, and dental anomalies t Developmental and Epileptic Encephalopathy 26A developmental and epileptic encephalopathy characterized by onset in the first years of life of seizures, developmental delay, intellectual disability, poor speech, and behavioral abnormalities that is caused by hetero Developmental and Epileptic Encephalopathy 27A developmental and epileptic encephalopathy characterized by early onset seizures, delayed psychomotor development and intellectual disability with variable severity that is caused by heterozygous mutation in the GRIN2B Developmental and Epileptic Encephalopathy 28A developmental and epileptic encephalopathy characterized by onset in the first months of life of refractory seizures, severe axial hypotonia, and profoundly impaired psychomotor development that is caused by homozygous Developmental and Epileptic Encephalopathy 29A developmental and epileptic encephalopathy characterized by onset in the first months of life of refractory myoclonic seizures, poor overall growth, congenital microcephaly with cerebral atrophy and impaired myelinatio Developmental and Epileptic Encephalopathy 3A developmental and epileptic encephalopathy characterized by onset in the first months of life of erratic, typically myoclonic, refractory seizures that is caused by homozygous or compound heterozygous mutation in the S Developmental and Epileptic Encephalopathy 30A developmental and epileptic encephalopathy characterized by onset in the first few months of life of refractory seizures andseverely impaired or absent developmental progress that is caused by heterozygous mutation in Developmental and Epileptic Encephalopathy 31AA developmental and epileptic encephalopathy characterized by onset in the first months or years of life of refractory seizures and global developmental delay from early infancy that is caused by heterozygous mutation in Developmental and Epileptic Encephalopathy 31BA developmental and epileptic encephalopathy characterized by early-onset epilepsy, generalized muscular hypotonia, visual impairment, and severe neurodevelopmental delay that is caused by homozygous mutation in the DNM1 Developmental and Epileptic Encephalopathy 32A developmental and epileptic encephalopathy characterized by seizure onset between 5 and 17 months of age resulting in residual neurologic deficits; in some patients seizures may remit or respond to drug treatment, and Developmental and Epileptic Encephalopathy 33A developmental and epileptic encephalopathy characterized by onset in the first months of life of seizures and severe global developmental delay with impaired intellectual development and poor or absent speech that is c Developmental and Epileptic Encephalopathy 34A developmental and epileptic encephalopathy characterized by infantile onset of refractory migrating focal seizures, developmental regression and severe global impairment that is caused by homozygous or compound heteroz Developmental and Epileptic Encephalopathy 35A developmental and epileptic encephalopathy characterized by seizure onset in the first months of life, absence of normal development and absence of myelination of early neurological structures that is caused by homozyg Developmental and Epileptic Encephalopathy 36A developmental and epileptic encephalopathy characterized by X-linked dominant inheritance of infantile onset of seizures, delayed psychomotor development and in some patients dysmorphic features that is caused by heter Developmental and Epileptic Encephalopathy 37A developmental and epileptic encephalopathy characterized by onset of intractable seizures or abnormal movement in the first years of life and developmental delay or regression after seizure onset that is caused by homo Developmental and Epileptic Encephalopathy 38A developmental and epileptic encephalopathy characterized by onset of seizures between 4 and 7 months of age, severely impaired global development, hypotonia with poor head control, and visual inattention that is caused Developmental and Epileptic Encephalopathy 39A developmental and epileptic encephalopathy characterized by global developmental delay apparent in early infancy, early-onset seizures, hypotonia, poor motor function, and hypomyelination in the brain that is caused by Developmental and Epileptic Encephalopathy 4A developmental and epileptic encephalopathy characterized by onset of tonic seizures in early infancy and severely impaired psychomotor development that is caused by heterozygous mutation in the STXBP1 gene on chromosom Developmental and Epileptic Encephalopathy 40A developmental and epileptic encephalopathy that is caused by homozygous or compound heterozygous mutation in the GUF1 gene on chromosome 4p12.Developmental and Epileptic Encephalopathy 41A developmental and epileptic encephalopathy characterized by onset in the first days or weeks of life of seizures, severely impaired psychomotor development, and brain anomalies including delayed myelination, thin corpu Developmental and Epileptic Encephalopathy 42A developmental and epileptic encephalopathy characterized by onset of seizures in the first hours or days of life and global developmental delay with severely impaired intellectual development that is caused by heterozy Developmental and Epileptic Encephalopathy 43A developmental and epileptic encephalopathy characterized by onset in the first year of life of seizures, global developmental delay, and mild to moderate intellectual disability that is caused by heterozygous mutation Developmental and Epileptic Encephalopathy 44A developmental and epileptic encephalopathy characterized by onset in the first year of life of refractory infantile spasms or myoclonus with developmental stagnation and severe neurologic impairment after seizure onset Developmental and Epileptic Encephalopathy 45A developmental and epileptic encephalopathy characterized by onset in the first year of life of seizures, global developmental delay, severely impaired intellectual development, hypotonia, and other persistent neurologi Developmental and Epileptic Encephalopathy 46A developmental and epileptic encephalopathy characterized by onset in the first months or years of life of intractable seizures, global developmental delay, failure to thrive, hypotonia, hyperreflexia, and variably impa Developmental and Epileptic Encephalopathy 47A developmental and epileptic encephalopathy characterized by onset in the first days or weeks of life of intractable seizures, developmental regression after seizure onset, intellectual disability, and neurologic impair Developmental and Epileptic Encephalopathy 48A developmental and epileptic encephalopathy characterized by seizure onset before 1 year of age, global developmental delay, intellectual disability, absent speech, and minimal or absent motor development that is caused Developmental and Epileptic Encephalopathy 49A developmental and epileptic encephalopathy characterized by neonatal onset of seizures, global developmental delay with intellectual disability and lack of speech, hypotonia, spasticity, and coarse facial features that Developmental and Epileptic Encephalopathy 5A developmental and epileptic encephalopathy characterized by global developmental delay and onset in the first months of life of tonic seizures or infantile spasms that is caused by heterozygous mutation in the SPTAN1 g Developmental and Epileptic Encephalopathy 50A developmental and epileptic encephalopathy characterized by delayed psychomotor development, early-onset seizures, severe developmental regression, and normocytic anemia that is caused by homozygous or compound heteroz Developmental and Epileptic Encephalopathy 51A developmental and epileptic encephalopathy characterized by onset of intractable seizures and hypotonia in the first days or weeks of life and severely delayed psychomotor development that is caused by homozygous or co Developmental and Epileptic Encephalopathy 52A developmental and epileptic encephalopathy characterized by infantile onset of refractory seizures and global neurological development delay, and intellectual disability that is caused by homozygous or compound heteroz Developmental and Epileptic Encephalopathy 53A developmental and epileptic encephalopathy characterized by infantile onset of intractable seizures, hypotonia, poor or absent global development, severe intellectual disability and spastic quadriplegia that is caused Developmental and Epileptic Encephalopathy 54A developmental and epileptic encephalopathy characterized by delayed psychomotor development, early-onset refractory seizures, and severe intellectual disability that is caused by heterozygous mutation in the HNRNPU gen Developmental and Epileptic Encephalopathy 55A developmental and epileptic encephalopathy characterized by onset in the first weeks or months of life of refractory seizures, profoundly impaired intellectual development, absent speech, spastic quadriplegia, and dysk Developmental and Epileptic Encephalopathy 56A developmental and epileptic encephalopathy characterized by early-onset seizures in most patients, intellectual disability, and variable behavioral abnormalities that is caused by heterozygous mutation in the YWHAG gen Developmental and Epileptic Encephalopathy 57A developmental and epileptic encephalopathy characterized by onset in the first days or months of life of refractory multifocal seizures, global developmental delay with hypotonia, variably impaired intellectual develop Developmental and Epileptic Encephalopathy 58A developmental and epileptic encephalopathy characterized by onset in the first days or months of life of infantile spasms and refractory seizures, global developmental delay, and impaired intellectual development that Developmental and Epileptic Encephalopathy 59A developmental and epileptic encephalopathy characterized by severe global developmental delay and onset of seizures in the first months of life that is caused by heterozygous mutation in the GABBR2 gene on chromosome 9 Developmental and Epileptic Encephalopathy 60A developmental and epileptic encephalopathy characterized by onset of infantile spasms, seizures, or myoclonus in the first months of life, hypsarrhythmia on EEG, and severe global developmental delay that is caused by Developmental and Epileptic Encephalopathy 61A developmental and epileptic encephalopathy that is caused by homozygous or compound heterozygous mutation in the ADAM22 gene on chromosome 7q21.Developmental and Epileptic Encephalopathy 62A developmental and epileptic encephalopathy characterized by onset of refractory seizures in the first weeks or months of life, severe to profound developmental delay, hypotonia, and impaired motor and cognitive develop Developmental and Epileptic Encephalopathy 63A developmental and epileptic encephalopathy characterized by onset in the first months to years of life of refractory infantile spasms and myoclonic seizures and evere to profound developmental delay that is caused by h Developmental and Epileptic Encephalopathy 64A developmental and epileptic encephalopathy characterized by infantile onset of seizures, severe intellectual disabilities, impaired motor functions, movement disorders, and postnatal microcephaly that is caused by hete Developmental and Epileptic Encephalopathy 65A developmental and epileptic encephalopathy characterized by onset in the first months to years of life of various types of intractable seizures, severe to profound psychomotor developmental delay, and mild facial dysmo Developmental and Epileptic Encephalopathy 66A developmental and epileptic encephalopathy characterized by onset in the first days or weeks of life of seizures, global developmental delay with hypotonia, behavioral abnormalities, and dysmorphic features or ophthalm Developmental and Epileptic Encephalopathy 67A developmental and epileptic encephalopathy characterized by onset in the first months of lifes of seizures, global developmental delay with impaired motor and intellectual development, poor or absent speech, movement d Developmental and Epileptic Encephalopathy 68A developmental and epileptic encephalopathy characterized by progressive development of seizures starting in infancy, developmental delay, axial hypotonia, spasticity of the limbs, clonus, and cortical atrophy that is c Developmental and Epileptic Encephalopathy 69A developmental and epileptic encephalopathy characterized by early-onset refractory seizures, hypotonia, and profoundly impaired development that is caused by heterozygous mutation in the CACNA1E gene on chromosome 1q25 Developmental and Epileptic Encephalopathy 6BA developmental and epileptic encephalopathy characterized by early-infantile seizure onset, profoundly impaired intellectual development, and a hyperkinetic movement disorder that is caused by heterozygous mutation in t Developmental and Epileptic Encephalopathy 7A developmental and epileptic encephalopathy characterized by infantile onset of refractory seizures, delayed neurological development, and persistent neurologic abnormalities that is caused by heterozygous mutation in t Developmental and Epileptic Encephalopathy 70A developmental and epileptic encephalopathy characterized by onset in the first months of life of of epileptic spasms or seizures, hypsarrhythmia on EEG, severely delayed psychomotor development with impaired or absent Developmental and Epileptic Encephalopathy 71A developmental and epileptic encephalopathy characterized by early neonatal refractory seizures, respiratory failure, structural brain abnormalities and cerebral edema, with death within weeks after birth that is caused Developmental and Epileptic Encephalopathy 72A developmental and epileptic encephalopathy characterized by onset around 5 months of age of infantile spasms, hypsarrhythmia on EEG, and severely delayed psychomotor development with impaired or absent walking and lang Developmental and Epileptic Encephalopathy 73A developmental and epileptic encephalopathy characterized by onset in the months of life of refractory seizures, profound developmental delay, failure to thrive, hypotonia, and are unable to walk, speak, or feed properl Developmental and Epileptic Encephalopathy 74A developmental and epileptic encephalopathy characterized by onset in the first months of life of refractory seizures and severe global developmental delay with hypotonia, severe motor impairment, roving eye movements,Developmental and Epileptic Encephalopathy 75A developmental and epileptic encephalopathy characterized by onset in the first months of life of severe refractory seizures, multifocal spikes and hypsarrhythmia on EEG, severely impaired intellectual development with Developmental and Epileptic Encephalopathy 76A developmental and epileptic encephalopathy characterized by early-onset, usually refractory, seizures, severely delayed global development, hypotonia, peripheral spasticity, and abnormalities on brain imaging that is c Developmental and Epileptic Encephalopathy 78A developmental and epileptic encephalopathy characterized by onset in the first days or weeks of life of refractory seizures followed by severely impaired intellectual development that is caused by heterozygous mutation Developmental and Epileptic Encephalopathy 79A developmental and epileptic encephalopathy characterized by onset in the first months of life of refractory seizures, severely impaired psychomotor development, hypomyelination, cerebral atrophy, and thinning of the co Developmental and Epileptic Encephalopathy 8A developmental and epileptic encephalopathy characterized by seizures with onset before 2 years of age, severe developmental delay, and in some patients hyperekplexia that is caused by X-linked recessive inheritance of Developmental and Epileptic Encephalopathy 80A developmental and epileptic encephalopathy characterized by onset in the first year of life of refractory seizures, severe global developmental delay, and defective synthesis of glycosylphosphatidylinositol that is cau Developmental and Epileptic Encephalopathy 81A developmental and epileptic encephalopathy characterized by onset in the first days or months of life of severe refractory seizures, little developmental progress, cerebral atrophy, impaired myelination, thin corpus ca Developmental and Epileptic Encephalopathy 82A developmental and epileptic encephalopathy characterized by onset of seizures in the first year of life, hypotonia, feeding difficulties, severely impaired intellectual development, and global developmental delay that Developmental and Epileptic Encephalopathy 83A developmental and epileptic encephalopathy characterized by onset in the first days or months of life of frequent, usually refractory, seizures and profoundly impaired development that is caused by homozygous or compou Developmental and Epileptic Encephalopathy 84A developmental and epileptic encephalopathy characterized by onset in the first months or years of life of refractory seizures, severely impaired global development, impaired intellectual development, absent speech, and Developmental and Epileptic Encephalopathy 85A developmental and epileptic encephalopathy characterized by onset of severe refractory seizures in the first year of life, global developmental delay with impaired intellectual development and poor or absent speech, an Developmental and Epileptic Encephalopathy 86A developmental and epileptic encephalopathy characterized by severe and persistent seizures associated with EEG abnormalities beginning in the first few months of life, global developmental delay, severe motor deficits,Developmental and Epileptic Encephalopathy 87A developmental and epileptic encephalopathy characterized by global developmental delay, severely impaired motor and cognitive development, hypotonia, and onset of frequent refractory seizures or infantile spasms betwee Developmental and Epileptic Encephalopathy 88A developmental and epileptic encephalopathy that is caused by homozygous or compound heterozygous mutation in the MDH1 gene on chromosome 2p15.Developmental and Epileptic Encephalopathy 89A developmental and epileptic encephalopathy characterized by onset in the first days or months of life of seizures, profound global developmental delay with impaired intellectual development, absent speech, axial hypoto Developmental and Epileptic Encephalopathy 9A developmental and epileptic encephalopathy characterized by seizure onset in infancy and mild to severe intellectual impairment in females that is caused by heterozygous mutation in the gene encoding protocadherin-19 (Developmental and Epileptic Encephalopathy 90A developmental and epileptic encephalopathy characterized by onset of refractory seizures in the first days or months of life that is caused by hemizygous or heterozygous mutation in the FGF13 gene on chromosome Xq26.Developmental and Epileptic Encephalopathy 91A developmental and epileptic encephalopathy characterized by onset of refractory multifocal seizures in the first weeks or years of life, delayed psychomotor development, poor or absent speech, and severe to profound in Developmental and Epileptic Encephalopathy 92A developmental and epileptic encephalopathy characterized by onset of seizures in infancy or early childhood, global developmental delay and variable intellectual disability that is caused by heterozygous mutation in th Developmental and Epileptic Encephalopathy 93A developmental and epileptic encephalopathy characterized by delayed psychomotor development, early-onset refractory seizures, and impaired intellectual development that is caused by heterozygous mutation in the ATP6V1A Developmental and Epileptic Encephalopathy 94A developmental and epileptic encephalopathy characterized by onset of multiple seizure types in the first few years of life and associated with poor prognosis and that is caused by heterozygous mutation in the CHD2 gene Developmental and Epileptic Encephalopathy 95A developmental and epileptic encephalopathy characterized by severely impaired global development, hypotonia, weakness, ataxia, coarse facial features, and intractable seizures that is caused by homozygous or compound h Developmental and Epileptic Encephalopathy 96A developmental and epileptic encephalopathy characterized by onset of seizures in the first days or weeks of life that is caused by heterozygous mutation in the NSF gene on chromosome 17q21.Developmental and Epileptic Encephalopathy 97A developmental and epileptic encephalopathy characterized by onset of seizures in the first months of life that is caused by heterozygous mutation in the CELF2 gene on chromosome 10p14.Developmental and Epileptic Encephalopathy 98A developmental and epileptic encephalopathy characterized by onset of seizures in the first decade associated with variable global developmental delay that is caused by heterozygous mutation in the ATP1A2 gene on chromo Developmental and Epileptic Encephalopathy 99A developmental and epileptic encephalopathy characterized by onset of seizures in early childhood that is caused by heterozygous mutation in the ATP1A3 gene on chromosome 19q13.Developmental Cardiac Valvular DefectA physical disorder that is caused by homozygous or compound heterozygous mutation in the PLD1 gene on chromosome 3q26.Developmental Coordination DisorderA specific developmental disorder that involves disordered motor skills where coordinated muscle movement is impaired.Developmental Delay and Seizures with or Without Movement AbnormalitiesA syndromic intellectual disability characterized by global developmental delay, variable intellectual disability, and early-onset seizures with a myoclonic component that is caused by heterozygous mutation in the DHDDS Developmental Delay, Dysmorphic Facies, and Brain AnomaliesAn autosomal dominant intellectual developmental disorder characterized by global developmental delay with impaired intellectual development, speech delay, nonspecific dysmorphic facial features, hypotonia, and impaired Developmental Delay, Hypotonia, and Impaired LanguageAn autosomal dominant intellectual developmental disorder characterized by variably impaired intellectual development usually with hypotonia, mild motor delay, and language difficulties that is caused by heterozygous mut Developmental Delay, Hypotrophy, and Dysmorphic Features Without Moebius SyndromeA syndrome that is characterized by developmental delay, hypotrophy, and dysmorphic features and that is caused by homozygous ultra-rare REV3L variant (T2753R).Developmental Delay with Sleep ApneaAn autosomal dominant intellectual developmental disorder characterized by hypotonia, global developmental delay, central and/or obstructive sleep apnea, and feeding difficulties that is caused by heterozygous mutation i Developmental Delay with Variable Cardiac and Renal Congenital Anomalies and Dysmorphic FaciesAn autosomal recessive intellectual developmental disorder characterized by congenital anomalies that mainly affect the cardiac and/or renal systems, dysmorphic craniofacial features apparent from birth, and mild to mode Developmental Disorder of Mental HealthA disease of mental health that occur during a child's developmental period between birth and age 18 resulting in retarding of the child's psychological or physical development.Developmental Dysplasia of the HipA bone development disease characterized by abnormality of the seating of the femoral head in the acetabulum.Developmental Dysplasia of the Hip 1A developmental dysplasia of the hip that is characterized by a shallow hip socket and that is caused by variation in the chromosomal region 13q22.Developmental Dysplasia of the Hip 2A developmental dysplasia of the hip that is characterized by incomplete formation of the acetabulum leading to dislocation of the femur, suboptimal joint function, and accelerated wear of the articular cartilage, result Deviated SeptumA shifted nasal septum that can block airflow.Dextro-Looped Transposition of the Great ArteriesA congenital heart disease characterized by complete inversion of the great vessels where the aorta incorrectly arises from the right ventricle and the pulmonary artery incorrectly arises from the left ventricle.D-Glyceric AciduriaAn inherited metabolic disorder characterized by impaired serine and fructose metabolism resulting in elevated excretion of D-glyceric acid that is caused by homozygous or compound heterozygous mutation in the GLYCTK gen Diabetes CommunityBlood glucose logging, insulin and medication tracking, and support for people living with type 1 and type 2 diabetes Diabetes InsipidusA rare condition that causes extreme thirst and frequent urination. Tracking your symptoms and connecting with others who understand can help you manage day to day.Diabetes MellitusA glucose metabolism disease that is characterized by chronic hyperglycaemia with disturbances of carbohydrate, fat and protein metabolism resulting from defects in insulin secretion, insulin action, or both.Diabetic AngiopathyA peripheral vascular disease that is characterized by narrowing of the arteries as a complication arising from chronic diabetes.Diabetic CataractA cataract that is characterized by loss of lens transparency secondary to hyperglycemia related to diabetes mellitus.Diabetic EncephalopathyA brain disease that is characterized by functional impairment of cognition, cerebral signal conduction, neurotransmission and synaptic plasticity, and underlying structural pathology associated with diabetes.Diabetic KetoacidosisA metabolic acidosis that is characterized by the shift of acid-base status of the body toward the acid side accompanied by the accumulation of ketone bodies in body tissues and fluids, resulting from uncontrolled diabet Diabetic NephropathyKidney damage from diabetes.Diabetic RetinopathyDiabetes-related damage to the retina. Tracking your symptoms and connecting with others who understand can help you manage day to day.Dialysis Disequilibrium SyndromeA syndrome that occurs during or after hemodialysis, or rarely continuous renal replacement therapy, characterized by variable, primarily neurological symptoms including headache, nausea, blurred vision, restlessness, co Dialysis-Related AmyloidosisAn amyloidosis that is characterized by the deposition of amyloid fibrils, principally composed of β2 microglobulins (β2M), in the osteoarticular structures and viscera and that is a serious complication of long-term dia Diamond-Blackfan AnemiaA rare disorder where bone marrow makes few red cells.Diamond-Blackfan Anemia 1A Diamond-Blackfan anemia that is caused by heterozygous mutation in the RPS19 gene on chromosome 19q13.2.Diamond-Blackfan Anemia 10A Diamond-Blackfan anemia that is caused by heterozygous mutation in the RPS26 gene on chromosome 12q13.2.Diamond-Blackfan Anemia 11A Diamond-Blackfan anemia that is caused by heterozygous mutation in the RPL26 gene on chromosome 17p13.1.Diamond-Blackfan Anemia 12A Diamond-Blackfan anemia that is caused by heterozygous mutation in the RPL15 gene on chromosome 3p24.2.Diamond-Blackfan Anemia 13A Diamond-Blackfan anemia that is caused by heterozygous mutation in the RPS29 gene on chromosome 14q21.3.Diamond-Blackfan Anemia 14 with Mandibulofacial DysostosisA Diamond-Blackfan anemia characterized by Diamond-Blackfan anemia, bilateral microtia, and cleft palate that is caused by hemizygous mutation in the TSR2 gene on chromosome Xp11.22.Diamond-Blackfan Anemia 15 with Mandibulofacial DysostosisA Diamond-Blackfan anemia characterized by Diamond-Blackfan anemia and mandibulofacial dysostosis (micrognathia, downslanting palpebral fissures, submucosal cleft palate or bifid uvula, and malar hypoplasia) that is caus Diamond-Blackfan Anemia 16A Diamond-Blackfan anemia that is caused by heterozygous mutation in the RPL27 gene on chromosome 17q21.31.Diamond-Blackfan Anemia 17A Diamond-Blackfan anemia that is caused by heterozygous mutation in the RPS27 gene on chromosome 1q21.3.Diamond-Blackfan Anemia 18A Diamond-Blackfan anemia that is caused by heterozygous mutation in the RPL18 gene on chromosome 19q13.33.Diamond-Blackfan Anemia 19A Diamond-Blackfan anemia that is caused by heterozygous mutation in the RPL35 gene on chromosome 9q33.3.Diamond-Blackfan Anemia 2A Diamond-Blackfan anemia that is caused by mutation in a region of chromosome 8p23.3-p22.Diamond-Blackfan Anemia 20A Diamond-Blackfan anemia that is caused by heterozygous mutation in the RPS15A gene on chromosome 16p12.3.Diamond-Blackfan Anemia 3A Diamond-Blackfan anemia that is caused by heterozygous mutation in the RPS24 gene on chromosome 10q22.3.Diamond-Blackfan Anemia 4A Diamond-Blackfan anemia that is caused by heterozygous mutation in the RPS17 gene on chromosome 15q25.2.Diamond-Blackfan Anemia 5A Diamond-Blackfan anemia that is caused by heterozygous mutation in the RPL35A gene on chromosome 3q29.Diamond-Blackfan Anemia 6A Diamond-Blackfan anemia that is caused by heterozygous mutation in the RPL5 gene on chromosome 1p22.1.Diamond-Blackfan Anemia 7A Diamond-Blackfan anemia that is caused by heterozygous mutation in the RPL11 gene on chromosome 1p36.11.Diamond-Blackfan Anemia 8A Diamond-Blackfan anemia that is caused by heterozygous mutation in the RPS7 gene on chromosome 2p25.3.Diamond-Blackfan Anemia 9A Diamond-Blackfan anemia that is caused by heterozygous mutation in the RPS10 gene on chromosome 6p21.31.Diaphragm DiseaseA muscular disease that is in the diaphragm.Diaphyseal Medullary Stenosis with Malignant Fibrous HistiocytomaAn osteochondrodysplasia that is characterized by pathologic fractures due to abnormal cortical growth and diaphyseal medullary stenosis and that is caused by heterozygous mutation in the MTAP gene on chromosome 9p21.DiarrheaLoose, watery stools that may be acute or chronic.Diastrophic DysplasiaAn osteochondrodysplasia that is caused by abnormal cartilage development due to mutations in the SLC26A2 gene which causes short limb dwarfism.Dicarboxylic AminoaciduriaAn amino acid metabolic disorder that is characterized by an excess urinary excretion of aspartate and glutamate acidic amino acids.DICER1 SyndromeA syndrome that is characterized by an increased risk of developing pleuropulmonary blastoma, multinodular goiter, ovarian Sertoli-Leydig cell tumors, and/or other types of tumors, and that is caused by heterozygous muta Diclofenac AllergyA drug allergy that triggered by diclofenac.DicrocoeliasisA parasitic helminthiasis infectious disease that involves parasitic infection of the bile ducts of the liver by Dicrocoelium dendriticum. The symptoms include cholecystitis, liver abscesses and upper abdominal pain.DientamoebiasisA parasitic protozoa infectious disease that involves infection of the large intestine by a protozoan parasite Dientamoeba fragilis. The symptoms include diarrhea, stomach pain and cramping, loss of appetite and weight,Diethylstilbestrol SyndromeA reproductive system disease that is characterized by reproductive tract malformations, decreased fertility and increased risk of developing clear cell carcinoma of the vagina and cervix in young women, in offspring or Differentiated High-Grade Thyroid CarcinomaA thyroid gland adenocarcinoma characterized by extensive evidence of follicular cell differentiation.Diffuse Alopecia AreataAn alopecia areata that involves diffuse loss of hair over the whole scalp.Diffuse AstrocytomaA low grade glioma that is characterized by diffuse infiltration of neighboring central nervous system structures.Diffuse Astrocytoma, MYB- or MYBL1-AlteredA diffuse astrocytoma that is a diffusely infiltrative astroglial neoplasm composed of monomorphic cells with genetic alterations in MYB or MYBL1.Diffuse Gastric CancerA stomach cancer that is characterized by development of diffuse (signet ring cell) gastric cancer underneath the stomach lining.Diffuse Glioma, H3 G34 MutantA histone mutated tumor that is caused by mutations in codon 34 of the H3 histone family 3A protein.Diffuse Idiopathic Skeletal HyperostosisA calcinosis that is the calcification or a bony hardening of ligaments in areas where they attach to your spine.Diffuse Infiltrative Lymphocytosis SyndromeA syndrome that occurs in human immunodeficiency virus (HIV) positive patients, which is accompanied by decreased kidney function. The spectrum of kidney involvement includes acute or chronic kidney disease, primarily tu Diffuse Large B-Cell LymphomaA large B-cell lymphoma that is consisting of medium-sized to large B cells with a diffuse growth pattern.Diffuse Large B-Cell Lymphoma Activated B-Cell TypeA diffuse large B-cell lymphoma that is characterized by the expression of CD44, PKCbeta1, Cyclin D2, BCL-2, and IRF4/MUM1 genes.Diffuse Large B-Cell Lymphoma Germinal Center B-Cell TypeA diffuse large B-cell lymphoma that is characterized by the expression of CD10, BCL-6, A-myb, and LMO2 genes, BCL-2 translocation, and c-REL amplification.Diffuse Leptomeningeal Glioneuronal TumorA central nervous system benign neoplasm that is characterized by the presence of clear glial neoplastic cells reminiscent of oligodendroglioma.Diffuse Low-Grade Glioma, MAPK Pathway–alteredA low grade glioma that is characterized by a gene alteration that results in a MAPK pathway abnormality, with morphological features of astrocytoma or oligodendroglioma.Diffuse Meningeal MelanocytosisA central nervous system melanocytic neoplasm that is characterized as diffuse or multifocal proliferation of uniform nevoid polygonal cells in the leptomeninges.Diffuse Midline Glioma, H3 K27-AlteredA histone mutated tumor that is characterized by loss of histone H3 p.K28me3 (K27me3) methylation and located throughout the midline structures of the central nervous system. Methylation loss may be due to p.K28M (K27M)Diffuse Pediatric-Type High-Grade Glioma, H3-Wildtype and IDH-WildtypeA high grade glioma that is characterized by the absence of histone H3, IDH1, and IDH2 mutations.Diffuse Peritoneal LeiomyomatosisA peritoneal benign neoplasm that is located throughout the peritoneum and arises from smooth muscle.Diffuse Pulmonary FibrosisA pulmonary fibrosis that is characterized by diffuse destruction, scarring, and thickening of the lung parenchyma in a usual interstitial pneumonia pattern, eventually causing architectural distortion and honeycombing,Diffuse Sclerosing Papillary Thyroid CarcinomaA papillary thyroid carcinoma that is characterized by diffuse infiltration of the thyroid gland by malignant follicular cells, squamous metaplasia, stromal fibrosis, and lymphocytic infiltration.Digenic DiseaseA polygenic disease that is characterized by expression of a phenotype that requires the presence of pathogenic variants in two different genes.Digenic Dyskeratosis CongenitaA dyskeratosis congenita characterized by combination of mucocutaneous features including abnormal skin pigmentation, nail dystrophy, thin hair, and oral leukoplakia that is caused by heterozygous mutation in the TYMS ge DiGeorge SyndromeA condition from a missing chromosome segment affecting immunity.Dihydrolipoamide Dehydrogenase DeficiencyA maple syrup urine disease characterized biochemically by a combined deficiency of the branched-chain alpha-keto acid dehydrogenase complex (BCKDC), pyruvate dehydrogenase complex (PDC), and alpha-ketoglutarate dehydrog Dihydropyrimidinase DeficiencyA pyrimidine metabolic disorder characterized by a defect in the degradation of uracil and thymine resulting in elevated levels of 5,6-dihydrouracil and 5,6-dihydrothymine in urine that is caused by homozygous or compoun Dihydropyrimidine Dehydrogenase DeficiencyA purine-pyrimidine metabolic disorder that is an autosomal recessive metabolic disorder in which there is absent or significantly decreased activity of dihydropyrimidine dehydrogenase, an enzyme involved in the metaboli Dilated CardiomyopathyAn intrinsic cardiomyopathy that is characterized by an an enlarged heart and damage to the myocardium causing the heart to pump blood inefficiently.Dilated Cardiomyopathy 1AA dilated cardiomyopathy that is caused by mutation in the LMNA gene on chromosome 1q21.Dilated Cardiomyopathy 1AAA dilated cardiomyopathy that is caused by mutation in the ACTN2 gene on chromosome 1q43.Dilated Cardiomyopathy 1BA dilated cardiomyopathy that is caused by variation in the chromosome region 9q13.Dilated Cardiomyopathy 1BBA dilated cardiomyopathy that is caused by mutation the DSG2 gene on chromosome 18q12.1.Dilated Cardiomyopathy 1CA dilated cardiomyopathy that is caused by mutation in the LDB3 gene on chromosome 10q23.2.Dilated Cardiomyopathy 1CCA dilated cardiomyopathy that is caused by mutation in the NEXN gene on chromosome 1p31.1.Dilated Cardiomyopathy 1DA dilated cardiomyopathy that is caused by mutation in the TNNT2 gene on chromosome 1q32.Dilated Cardiomyopathy 1DDA dilated cardiomyopathy that is caused by mutation in the RBM20 gene on chromosome 10q25.Dilated Cardiomyopathy 1EA dilated cardiomyopathy that is caused by mutation in the SCN5A gene on chromosome 3p22.2.Dilated Cardiomyopathy 1EEA dilated cardiomyopathy that is caused by mutation in the MYH6 gene on chromosome 14q11.2.Dilated Cardiomyopathy 1FFA dilated cardiomyopathy that is caused by mutation in the TNNI3 gene on chromosome 19q13.42.Dilated Cardiomyopathy 1GA dilated cardiomyopathy that is caused by mutation in the TTN gene on chromosome 2q31.Dilated Cardiomyopathy 1GGA dilated cardiomyopathy that is caused by mutation in the SDHA gene on chromosome 5p15.33.Dilated Cardiomyopathy 1HA dilated cardiomyopathy that is caused by variation in the chromosome region 2q14-q22.Dilated Cardiomyopathy 1HHA dilated cardiomyopathy that is caused by mutation in the BAG3 gene on chromosome 10q26.11.Dilated Cardiomyopathy 1IA dilated cardiomyopathy that is caused by mutation in the DES gene on chromosome 2q35.Dilated Cardiomyopathy 1IIA dilated cardiomyopathy that is caused by mutation in the CRYAB gene on chromosome 11q23.Dilated Cardiomyopathy 1JA dilated cardiomyopathy that is caused by mutation in the EYA4 gene on chromosome 6q23.2.Dilated Cardiomyopathy 1JJA dilated cardiomyopathy that is caused by mutation in the LAMA4 gene on chromosome 6q21.Dilated Cardiomyopathy 1KA dilated cardiomyopathy that is caused by variation in the chromosome region 6q12-q16.Dilated Cardiomyopathy 1KKA dilated cardiomyopathy that is caused by mutation in the MYPN gene on chromosome 10q21.Dilated Cardiomyopathy 1LA dilated cardiomyopathy that is caused by mutations in the SGCD gene on chromosome 5q33.2-q33.3.Dilated Cardiomyopathy 1LLA dilated cardiomyopathy that is caused by heterozygous mutation in the PRDM16 gene on chromosome 1p36.Dilated Cardiomyopathy 1MA dilated cardiomyopathy that is caused by mutation in the CSRP3 gene on chromosome 11p15.Dilated Cardiomyopathy 1MMA dilated cardiomyopathy that is caused by heterozygous mutation in the MYBPC3 gene on chromosome 11p11.Dilated Cardiomyopathy 1NNA dilated cardiomyopathy that is caused by mutation in the RAF1 gene on chromosome 3p25.Dilated Cardiomyopathy 1OA dilated cardiomyopathy that is caused by mutation in the ABCC9 gene on chromosome 12p12.1.Dilated Cardiomyopathy 1PA dilated cardiomyopathy that is caused by mutation in the PLN gene on chromosome 6q22.Dilated Cardiomyopathy 1QA dilated cardiomyopathy that is caused by variation in the chromosome region 7q22.3-q31.1.Dilated Cardiomyopathy 1RA dilated cardiomyopathy that is caused by mutation in the ACTC1 gene on chromosome 15q14.Dilated Cardiomyopathy 1SA dilated cardiomyopathy that is caused by mutation in the MYH7 gene on chromosome 14q12.Dilated Cardiomyopathy 1TA dilated cardiomyopathy that is caused by mutation in the TMPO gene on chromosome 12q22.Dilated Cardiomyopathy 1UA dilated cardiomyopathy that is caused by mutation in the PSEN1 gene on chromosome 14q24.3.Dilated Cardiomyopathy 1VA dilated cardiomyopathy that is caused by mutation in the PSEN2 gene on chromosome 1q31-q42.Dilated Cardiomyopathy 1WA dilated cardiomyopathy that is caused by mutation in the VCL gene on chromosome 10q22.2.Dilated Cardiomyopathy 1XA dilated cardiomyopathy that is caused by mutation in the FKTN gene on chromosome 9q31.Dilated Cardiomyopathy 1YA dilated cardiomyopathy that is caused by mutation in the TPM1 gene on chromosome 15q22.1.Dilated Cardiomyopathy 1ZA dilated cardiomyopathy that is caused by mutation in the TNNC1 gene on chromosome 3p.Dilated Cardiomyopathy 2AA dilated cardiomyopathy that is caused by mutation in the TNNI3 gene on chromosome 19q13.Dilated Cardiomyopathy 2BA dilated cardiomyopathy that is caused by mutation in the GATAD1 gene on chromosome 7q21.Dilated Cardiomyopathy 2CA dilated cardiomyopathy that is characterized by dilated cardiomyopathy of variable severity, with age of onset ranging from 2 to 20 years and that is caused by homozygous or compound heterozygous mutation in the PPCS g Dilated Cardiomyopathy 2DA dilated cardiomyopathy that is characterized by neonatal onset of severe cardiomyopathy, with rapid progression to cardiac decompensation and death unless the patient undergoes heart transplantation and that is caused Dilated Cardiomyopathy 2EA dilated cardiomyopathy that is characterized by neonatal or early childhood onset of dilated cardiomyopathy, with rapid progression to cardiac failure and death unless patients undergo cardiac transplantation and that Dilated Cardiomyopathy 2FA dilated cardiomyopathy that is characterized by refractory ventricular arrhythmias and severe heart failure and that is caused by homozygous mutation in the BAG5 gene on chromosome 14q32.Dilated Cardiomyopathy 2GA dilated cardiomyopathy that is characterized by early-onset severe dilated cardiomyopathy that progresses rapidly to heart failure in the neonatal period without evidence of intervening hypertrophy and that is caused b Dilated Cardiomyopathy 3BA dilated cardiomyopathy that is caused by mutation in the dystrophin (DMD) gene encoding dystrophin on chromosome Xp21.Dilated Cardiomyopathy 3CA dilated cardiomyopathy that is characterized by severe arrhythmogenic dilated cardiomyopathy (DCM) with onset as young as the teen years but usually in the third to fifth decades of life and that is caused by mutation Dilated Cardiomyopathy-Hypergonadotropic Hypogonadism SyndromeA syndrome characterized by dilated cardiomyopathy and hypergonadotropic hypogonadism that is caused by heterozygous mutation in the LMNA gene on chromosome 1q22.Dill AllergyA food allergy triggered by dill (Anethum graveolens).Dimethylglycine Dehydrogenase DeficiencyAn amino acid metabolic disorder that is characterized by a fish-like odor, chronic fatigue, and increased level of the muscle form of creatine kinase in serum and that is caused by homozygous mutation in the DMGDH gene DioctophymiasisA parasitic helminthiasis infectious disease that involves parasitic infection by the nematode Dioctophyme renale in humans after eating undercooked food. The larvae are found in the subcutaneous nodules and kidneys.DipetalonemiasisA filariasis that is a zoonotic infection caused by the nematode of the genus Dipetalonema, which is transmitted accidentally to humans from porcupines, beavers and other mammals by mosquitoes. The adult worms live subcu Diphenylmethane-4,4'-Diisocyanate Allergic AsthmaAn isocyanates allergic asthma that triggered by diphenylmethane-4,4-diisocyanate.Diphenylmethane-4,4'-Diisocyanate Allergic Contact DermatitisAn allergic contact dermatitis that triggered by diphenylmethane-4,4-diisocyanate.Diphthamide Deficiency SyndromeAn inherited metabolic disorder characterized by global developmental delay, short stature, dysmorphic craniofacial features, and sparse hair that is caused by deficient diphthamidylation of the eukaryotic translation El Diphthamide Deficiency Syndrome 1A diphthamide deficiency syndrome that is caused by homozygous or compound heterozygous mutation in the DPH1 gene on chromosome 17p13.3.Diphthamide Deficiency Syndrome 2A diphthamide deficiency syndrome that is caused by homozygous or compound heterozygous mutations in the DPH2 gene on chromosome 1p34.1.DiphtheriaA bacterial infection affecting the throat and airways.Diphtheritic CystitisA cystits which involves inflammation and formation of a dense fibrous false membrane on the mucous membrane of the bladder.Diphtheritic PeritonitisA peritonitis which involves inflammation of peritoneal cavity by Corynebacterium diphtheriae.DiphyllobothriasisA parasitic helminthiasis infectious disease that involves parasitic infection caused by Diphyllobothrium latum through the consumption of raw or undercooked fish. The symptoms include abdominal discomfort, diarrhea, vom Dipsogenic Diabetes InsipidusA diabetes insipidus that is characterized by excessive thirst, polyuria with low urine osmolality, and intact urine concentrating ability.DirofilariasisA filariasis that is a zoonotic infection caused by nematodes Dirofilaria immitis or Dirofilaria repens, which are transmitted to humans from dogs, cats, wolves and coyotes by infected mosquitoes. The disease manifests a Disabling Pansclerotic MorpheaA localized scleroderma that is characterized by the rapid progression of deep cutaneous fibrosis or pansclerosis that involves the subcutaneous adipose tissue and, occasionally, the fascia, muscles, and bone.DiscitisA cartilage disease that is characterized by an infection of the intervertebral disc space.Disinhibited Social Engagement DisorderOverly familiar behavior with strangers after neglect.DislocationA joint is forced out of its normal position.Disodium Cromoglycate AllergyA drug allergy that triggered by disodium cromoglycate.Disorder of Sexual DevelopmentA gonadal disease that is characterized by atypical development of chromosomal, gonadal, or anatomic sex.Dissociative AmnesiaA dissociative disorder where he continuity of the patient's memory is disrupted. Patients with dissociative amnesia have recurrent episodes in which they forget important personal information or events, usually connecte Dissociative DisorderA disease of mental health in which the normally well-integrated functions of memory, identity, perception, or consciousness are separated (dissociated).Dissociative Identity DisorderA condition involving multiple distinct identities.Distal 10q Deletion SyndromeA chromosomal deletion syndrome that is characterized by developmental delay, intellectual disability, behavioral problems and facial facies caused by a missing copy of the long arm of chromosome 10.Distal ArthrogryposisA muscle tissue disease characterized by congenital joint contractures of hand and feet.Distal Arthrogryposis Type 1A distal arthrogryposis characterized by autosomal domiant inheritance of contractures of the distal regions of the hands and feet with no facial involvement or other anomalies.Distal Arthrogryposis Type 10A distal arthrogryposis that is caused by heterozygous mutation in the chromosome region 2q31.3-q32.1.Distal Arthrogryposis Type 1AA distal arthrogryposis type 1 that is caused by heterozygous mutation in the TPM2 gene on chromosome 9p13.3.Distal Arthrogryposis Type 1BA distal arthrogryposis type 1 that is caused by heterozygous mutation in the MYBPC1 gene on chromosome 12q23.2.Distal Arthrogryposis Type 1CA distal arthrogryposis type 1 characterized by congenital contractures, scoliosis, and short stature that is caused by heterozygous or homozygous mutation in the MYLPF gene on chromosome 16p11.2.Distal Arthrogryposis Type 2AA Freeman-Sheldon syndrome that is caused by heterozygous mutation in the MYH3 gene on chromosome 17p13.1.Distal Arthrogryposis Type 2BA distal arthrogryposis characterized by contractures of the distal joints of the limbs, triangular face, downslanting palpebral fissures, small mouth, and high arched palate.Distal Arthrogryposis Type 2B1A distal arthrogryposis type 2B that is caused by heterozygous mutation in the TNNI2 gene on chromosome 11p15.5.Distal Arthrogryposis Type 2B2A distal arthrogryposis type 2B that is caused by heterozygous mutation in the TNNT3 gene on chromosome 11p15.5.Distal Arthrogryposis Type 2B3A distal arthrogryposis type 2B that is caused by heterozygous mutation in the MYH3 gene on chromosome 17p13.1.Distal Arthrogryposis Type 3A distal arthrogryposis characterized by distal arthrogryposis with short stature and cleft palate that is caused by heterozygous mutation in the PIEZO2 gene on chromosome 18p11.22-p11.21.Distal Arthrogryposis Type 4A distal arthrogryposis characterized by distal arthrogryposis with severe scoliosis.Distal Arthrogryposis Type 5A distal arthrogryposis characterized by distal arthrogryposis with ocular abnormalities that is caused by heterozygous gain of function mutation in the PIEZO2 gene on chromosome 18p11.22-p11.21.Distal Arthrogryposis Type 5DA distal arthrogryposis characterized by severe camptodactyly of the hands, mild camptodactyly of the toes, extension contractures of the knee, and distinctive facial features that is caused by homozygous or compound het Distal Arthrogryposis Type 6A distal arthrogryposis characterized by distal arthrogryposis with sensorineural deafness.Distal Arthrogryposis Type 7A distal arthrogryposis characterized by inability to open the mouth fully and pseudocamptodactyly that is caused by heterozygous mutation in the MYH8 gene on chromosome 17p13.1.Distal MyopathyA muscular dystrophy that is characterized by predominant weakness and atrophy beginning in the feet and/or hands.Distal Myopathy 1A distal myopathy that is characterized by autosomal dominant inheritance that is caused by mutation in the MYH7 gene on chromosome 14q11.2.Distal Myopathy 3A distal myopathy that is characterized by adult onset of slowly progressive distal muscular weakness and atrophy affecting the upper and lower limbs, leading to difficulties using the hands and walking difficulties and Distal Myopathy 4A distal myopathy that is caused by heterozygous mutation in FLNC on 7q32.Distal Myopathy Tateyama TypeA distal myopathy that is caused by heterozygous mutation in the caveolin-3 gene (CAV3) on chromosome 3p25.Distal Myopathy with Anterior Tibial OnsetA distal myopathy that is characterized by onset at 14-28 years of age starting first in the anterior tibial muscles and involving both upper and lower proximal muscles that is caused by homozygous mutation in the gene e Distal Myopathy with Rimmed VacuolesA distal myopathy that is characterized by adult onset of muscle weakness affecting the distal upper and lower limbs, which may result in walking difficulties, as well as proximal weakness of the shoulder girdle muscles Diversion ColitisA colitis caused by diversion of the fecal stream due to complication of ileostomy or colostomy.DiverticulitisInflammation or infection of small pouches in the colon. Tracking your symptoms and connecting with others who understand can help you manage day to day.Diverticulitis of ColonA colonic disease characterized by the formation and inflammation of diverticula within the colon wall.D-Mannitol AllergyA drug allergy that triggered by D-mannitol.DNA Ligase IV DeficiencyA combined T cell and B cell immunodeficiency that is caused by a mutation in the LIG4 gene, a DNA ligase, encoding a protein essential for V(D)J recombination and DNA double-strand break (DSB) repair through nonhomologo Dominant Optic Atrophy Plus SyndromeA syndrome characterized by visual loss and sensorineural hearing loss with onset in childhood and associated with other symptoms including; progressive external ophthalmoplegia, muscle cramps, hyperreflexia, and ataxia Dominant Pericentral Pigmentary RetinopathyA retinitis pigmentosa that is characterized pigmentary retinal degeneration with onset in the teens leading to blindness in the sixth ans seventh decades of life.Donnai-Barrow SyndromeA syndrome that is characterized by facial and ocular abnormalities, sensorineural hearing loss, agenesis of the corpus callosum, variable intellectual disability, and proteinuria that is caused by homozygous or compound Donohue SyndromeA syndrome that is characterized by protuberant and low-set ears, flaring nostrils, thick lips, enlarged secondary sex organs and overwhelming insulin resistance and is caused by mutation within the INSR gene causing abn DOORS SyndromeA syndrome characterized by sensorineural deafness, onychodystrophy, osteodystrophy, seizures, and intellectual disability that is caused by homozygous or compound heterozygous mutation in the TBC1D24 gene on chromosome Dopamine Beta-Hydroxylase DeficiencyAn inherited metabolic disorder characterized by decreased beta-hydroxylation of dopamine in nerves resulting in impaired autonomic noradrenergic neurotransmission and clinical features including severely decreased norep Dopamine Transporter Deficiency SyndromeA movement disease characterized by parkinsonism-dystonia including tremor, progressive bradykinesia, and dystonic posturing that is caused by mutation in the SLC6A3 gene on chromosome 5p15.33.Dopa-Responsive DystoniaA dystonia characterized by generalized dystonia, diurnal fluctuation of symptoms, and a dramatic therapeutic response to L-dopa that is caused by heterozygous mutation in the GCH1 gene on chromosome 14q13.Double PterygiumA pterygium that is characterized by a fleshy outpouching of conjunctival growth that appears to have multiple heads or areas of bulk or origin and causes multiple fleshy bumps on the surface of the eye, foreign body sen Dowling-Degos DiseaseA pigmentation disease characterized by a reticulate pattern of abnormally dark skin coloring, particularly in the body's folds and creases.Down SyndromeA genetic condition from an extra chromosome 21.Doyne Honeycomb Retinal DystrophyA retinal drusen characterized by yellow-white deposits (drusen) that accumulate beneath the retinal pigment epithelium in the posterior pole of the eye in a honeycomb pattern and that is caused by mutations in the EFEMP DracunculiasisA parasitic helminthiasis infectious disease that involves parasitic infection by the larvae of the nematode Dracunculus medinensis, which are transmitted to humans by drinking water containing copepods infected with the Dravet SyndromeA severe form of epilepsy beginning in infancy.Dressler'S SyndromeA pericarditis characterized by inflammation, occurring after injury, in pericardium.Dropped Head SyndromeA spinal disease that is characterized by severe kyphotic deformity of the cervicothoracic spine and by severe weakness of the cervical paraspinal muscles that results in the passively correctable chin-on-chest deformity Drug AllergyAn allergic disease that is triggered by a drug.Drug DependenceA substance dependence that involves the continued use of drugs despite problems related to use of the substance.Drug-Induced Hearing LossA nonsyndromic deafness that is characterized by cochlear or vestibular dysfunction resulting in loss of hearing caused by drug ototoxicity.Drug-Induced Lupus ErythematosusA lupus erythematosus caused by chronic use of certain drugs.Dry BeriberiA beriberi that is in the nervous system and causes difficulty walking, numbness in extremities, tingling in extremities, paralysis of lower legs, difficulty speaking, confusion, and vomiting.Dry Eye SyndromeEyes don't make enough quality tears. Tracking your symptoms and connecting with others who understand can help you manage day to day.Duane-Radial Ray SyndromeA syndrome characterized by upper limb anomalies, ocular anomalies, and, in some cases, renal anomalies and that is caused by heterozygous mutation in the SALL4 gene on chromosome 20q13.Duane Retraction SyndromeA strabismus characterized by a failure of cranial nerve VI (the abducens nerve) to develop normally, resulting in restriction or absence of abduction, adduction, or both, and narrowing of the palpebral fissure and retra Duane Retraction Syndrome 1A Duane retraction syndrome that is caused by loci that maps to chromosome 8q13.Duane Retraction Syndrome 2A Duane retraction syndrome that is caused by heterozygous mutation in the CHN1 gene on chromosome 2q31.Duane Retraction Syndrome 3A Duane retraction syndrome that is caused by heterozygous mutation in the MAFB gene on chromosome 20q12.Dubin-Johnson SyndromeA bilirubin metabolic disorder that involves elevated levels of unconjugated bilirubin without elevation of liver alanine transaminase and aspartate transaminase enzymes as a result of the deficient ability of hepatocyte Dubowitz SyndromeA syndrome that is characterized by microcephaly, growth retardation and a characteristic facial appearance including but not limited to narrow or triangular shaped head, micrognathia, ptosis, a broad, wide-tipped nose,Duchenne Muscular DystrophyA genetic disorder causing progressive muscle weakness.Ductal Carcinoma in SituA breast carcinoma in situ that is characterized by being non-invasive, not having spread outside of the duct into the surrounding breast tissue, is caused by abnormally proliferating cells, arises from epithelial cells.Duodenal AtresiaAn intestinal atresia that is characterized by congenital absence or complete closure of a portion of the lumen of the duodenum.Duodenum AdenocarcinomaA duodenum cancer that arises from epithelial cells of glandular origin.Duodenum AdenomaA duodenal benign neoplasm that is caused by epithelial tissue with glandular origin.Duodenum CancerA small intestine cancer that is in the beginning section of the small intestine.Duodenum DiseaseAn intestinal disease that is in the duodenum.Dupuytren's ContractureThickened tissue in the palm that pulls fingers inward.Dursun-Ozgul Neurodevelopmental SyndromeAn autosomal recessive intellectual developmental disorder characterized by varying degrees of developmental disability, epilepsy, and movement disorders that is caused by homozygous mutation in the ELFN1 gene on chromos Dyggve-Melchior-Clausen DiseaseA spondyloepimetaphyseal dysplasia characterized by clawed fingers, platyspondyly of the spine, abnormalities of the iliac crest, intellectual disability and mucopolysaccharide in the urine that is caused by homozygous o Dysbaric OsteonecrosisAn ischemic bone disease the is caused by nitrogen embolization in bone.DyscalculiaA learning disability involving a math disability can cause such difficulties as learning math concepts (such as quantity, place value, and time), difficulty memorizing math facts, difficulty organizing numbers, and unde Dyschromatosis, Ichthyosis, Deafness, and Atopic DiseaseA syndrome characterized by generalized hyperpigmentation with hypopigmented spots, ichthyosis, sensorineural hearing loss, atopic dermatitis, asthma, and allergic rhinitis that is caused by compound heterozygous mutatio Dyschromatosis Symmetrica HereditariaA pigmentation disease characterized by progressively pigmented and depigmented macules, often mixed in a reticulate pattern, concentrated on the dorsal extremities.Dyschromatosis Universalis HereditariaA pigmentation disease characterized by reticulate hyper- and hypo-pigmentated macules in a generalized distribution.DysenteryAn intestinal infectious disease that involves inflammation of the intestines, especially colon, due to chemical irritants, bacteria, protozoa, or parasitic worms, which results in severe diarrhea with passage of mucus a DysgammaglobulinemiaA selective immunoglobulin deficiency disease that is caused by a reduction in some types of gamma globulins.DysgerminomaA germ cell cancer that arises from cells that give rise to egg cells.Dysgerminoma of OvaryA dysgerminoma that is in the ovary.DysgraphiaA writing disorder that involves a deficiency in the ability to write where the writing is distorted or incorrect, spelling difficulty, poor handwriting or trouble putting thoughts on paper.Dyskeratosis CongenitaA skin disease characterized by cutaneous pigmentation, premature graying, dystrophy of the nails, leukoplakia of the oral mucosa, continuous lacrimation due to atresia of the lacrimal ducts, often thrombocytopenia, anem Dyskinetic Cerebral PalsyA cerebral palsy that is caused by damage to the extrapyramidal motor system and/or pyramidal tract and to the basal ganglia, which results in mixed muscle tone (hypertonia and hypotonia). The individuals have trouble ho DyslexiaA reading disorder resulting from a developmental reading disability involving the inability to process graphic symbols resulting in impairment of reading ability.DysostosisA bone development disease that results in defective ossification of bone.Dysplastic Nevus SyndromeA syndrome that is characterized by the presence of multiple dysplastic nevi (atypical moles) and a history of melanoma in two family members.Dysthymic DisorderA mood disorder that involves the presence of a low mood almost daily over a span of at least two years.DystoniaInvoluntary muscle contractions causing twisting movements.Dystonia 12A dystonia that is characterized by asymmetric dystonia and parkinsonism with abrupt onset in young adulthood that is caused by autosomal dominant inheritance of heterozygous mutation in the gene encoding the alpha-3 sub Dystonia 16A multifocal dystonia that is characterized by early-onset progressive limb dystonia, laryngeal and oromandibular dystonia, and parkinsonism, and that is caused by autosomal recessive inheritance of homozygous mutation i Dystonia 21A dystonia characterized by late onset pure torsion dystonia that is caused by autosomal dominant inheritance of variation in the chromosome region 2q14.3-q21.3.Dystonia 22, Adult-OnsetA dystonia characterized by focal dystonia or tremor and mild cognitive impairment that is caused by homozygous missense mutation in the TSPOAP1 gene.Dystonia 22, Juvenile-OnsetA dystonia characterized by progressive, generalized dystonia associated with cognitive decline and cerebellar atrophy on brain imaging that is caused by homozygous loss-of-function mutation in the TSPOAP1 gene (610764)Dystonia 23A focal dystonia characterized by adult-onset cervical dystonia typically in the fourth or fifth decade of life that is caused by autosomal dominant inheritance of heterozygous mutation in the CACNA1B gene on chromosome Dystonia 24A focal dystonia that is characterized by focal dystonia affecting the neck, laryngeal muscles, and muscles of the upper limbs, and is caused by autosomal dominant inheritance of heterozygous mutation in the anoctamin 3 Dystonia 25A multifocal dystonia that is characterized by cervical, laryngeal and hand-forearm dystonia, and is caused by autosomal dominant inheritance of heterozygous mutation in the GNAL gene on chromosome 18p11.Dystonia 27A segmental dystonia characterized by autosomal recessive inheritance of segmental isolated dystonia mainly affecting the craniocervical region and upper limbs with onset in the first 2 decades of life that is caused by Dystonia 28, Childhood-OnsetA dystonia characterized by onset of progressive dystonia in the first decade of life resulting in gait upper limbs, neck, and orofacial region difficulties, elongated face with bulbous nose, some have abnormal eye movem Dystonia 30A dystonia characterized by the onset of symptoms in the first decades of life, with oromandibular, cervical, bulbar, or upper limb dystonia, and usually show slow progression to generalized dystonia. Some patients may l Dystonia 31A dystonia characterized by age at onset ranges from childhood to young adulthood with involuntary muscle twisting movements and postural abnormalities affecting the upper and lower limbs, neck, face, and trunk. Some pat Dystonia 32A dystonia characterized by onset of symptoms in adulthood, sustained or intermittent muscle contractions causing abnormal movements or posturing. The disorder is slowly progressive with eventual generalized involvement Dystonia 33A dystonia characterized by a neurologic disorder with onset of focal or generalized dystonia in the first decades of life (from early childhood to adolescence) that is caused by heterozygous mutation in the EIF2AK2 gene Dystonia 35, Childhood-OnsetA dystonia characterized by the onset of a dystonic movement disorder in the first year of life that is caused by compound heterozygous mutation in the SHQ1 gene on chromosome 3p13.Dystonia 37, Early-Onset with Striatal LesionsA dystonia characterized by the onset of progressive dystonia, dysphagia, and choreoathetosis in the first months or years of life that is caused by homozygous or compound heterozygous mutations in the NUP54 gene on chro Dystonia 9A dystonia that is characterized by paroxysmal choreoathetosis and progressive spastic paraplegia, with episodes often precipitated by alcohol, fatigue, or emotional stress, and that is caused by autosomal dominant inher Dystransthyretinemic HyperthyroxinemiaA hyperthyroxinemia that is characterized by an increased affinity for thyroxine (T4) by transthyretin in clinically euthyroid individuals and that is caused by heterozygous mutation in the TTR gene on chromosome 18q12.

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