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Disease	Synonyms	Description	Articles	Phenotypes
dysgerminoma of ovary	Dysgerminoma of ovary (disorder); Ovarian Dysgermi.. [+] Dysgerminoma of ovary (disorder); Ovarian Dysgerminoma; Dysgerminoma of ovary; [-]	A dysgerminoma that is located_in the ovary.
dysgraphia		A writing disorder that involves a deficiency in t..[+] A 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. [-]
dyshormonogenic goiter	Dyshormonogenic goiter (disorder); Dyshormonogenic.. [+] Dyshormonogenic goiter (disorder); Dyshormonogenic goiter; Dyshormonogenic goitre; dyshormonogenic goitre; [-]	n_a
dyskeratosis congenita	DKCD;	A skin disease characterized by cutaneous pigmenta..[+] A 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, anemia, testicular atrophy in the male carriers and predisposition to cancer. [-]	1 articles
dyskinesia of esophagus	Dyskinesia of oesophagus; Oesophageal dysmotility;.. [+] Dyskinesia of oesophagus; Oesophageal dysmotility; esophageal dysmotility; esophageal motility disorder; Oesophageal motor disorder; [-]	n_a
dyskinetic cerebral palsy	Athetoid Dyskinetic Cerebral Palsy;	A cerebral palsy that is caused by damage to the e..[+] A 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 holding themselves in an upright, steady position for sitting or walking, and often show involuntary motions. [-]
dyslexia		A reading disorder resulting from a developmental ..[+] A reading disorder resulting from a developmental reading disability involving the inability to process graphic symbols resulting in impairment of reading ability. [-]
dysostosis		A bone development disease that results in defecti..[+] A bone development disease that results in defective ossification of bone. [-]
dysplastic nevus syndrome	familial atypical multiple mole-melanoma; FAMM syn.. [+] familial atypical multiple mole-melanoma; FAMM syndrome; [-]	A syndrome that is characterized by the presence o..[+] A syndrome that is characterized by the presence of multiple dysplastic nevi (atypical moles) and a history of melanoma in two family members. [-]
dysthymic disorder	dysthymia;	A mood disorder that involves the presence of a lo..[+] A mood disorder that involves the presence of a low mood almost daily over a span of at least two years. [-]
dystonia	dystonic disease;	A movement disease that is characterized by involu..[+] A movement disease that is characterized by involuntary muscle contractions causing repetitive or twisting movements. [-]	2 articles
dystonia 12		A dystonia that is characterized by asymmetric dys..[+] A dystonia that is characterized by asymmetric dystonia and parkinsonism with abrupt onset in young adulthood that has_material_basis_in autosomal dominant inheritance of heterozygous mutation in the gene encoding the alpha-3 subunit of the N,K-ATPase (ATP1A3) on chromosome 19q13. [-]	2 articles
dystonia 16		A multifocal dystonia that is characterized by ear..[+] A multifocal dystonia that is characterized by early-onset progressive limb dystonia, laryngeal and oromandibular dystonia, and parkinsonism, and that has_material_basis_in autosomal recessive inheritance of homozygous mutation in the protein activator of interferon induced protein kinase EIF2AK2 (PRKRA) gene on chromosome 2q31. [-]	1 articles
dystonia 21		A dystonia characterized by late onset pure torsio..[+] A dystonia characterized by late onset pure torsion dystonia that has_material_basis_in autosomal dominant inheritance of variation in the chromosome region 2q14.3-q21.3. [-]
dystonia 22, adult-onset		A dystonia characterized by focal dystonia or trem..[+] A dystonia characterized by focal dystonia or tremor and mild cognitive impairment that has_material_basis_in homozygous missense mutation in the TSPOAP1 gene. [-]
dystonia 22, juvenile-onset		A dystonia characterized by progressive, generaliz..[+] A dystonia characterized by progressive, generalized dystonia associated with cognitive decline and cerebellar atrophy on brain imaging that has_material_basis_in homozygous loss-of-function mutation in the TSPOAP1 gene (610764) on chromosome 17q22. [-]
dystonia 23		A focal dystonia characterized by adult-onset cerv..[+] A focal dystonia characterized by adult-onset cervical dystonia typically in the fourth or fifth decade of life that has_material_basis_in autosomal dominant inheritance of heterozygous mutation in the CACNA1B gene on chromosome 9q34. [-]
dystonia 24		A focal dystonia that is characterized by focal dy..[+] A focal dystonia that is characterized by focal dystonia affecting the neck, laryngeal muscles, and muscles of the upper limbs, and has_material_basis_in autosomal dominant inheritance of heterozygous mutation in the anoctamin 3 (ANO3) gene on chromosome 11p14. [-]
dystonia 25		A multifocal dystonia that is characterized by cer..[+] A multifocal dystonia that is characterized by cervical, laryngeal and hand-forearm dystonia, and has_material_basis_in autosomal dominant inheritance of heterozygous mutation in the GNAL gene on chromosome 18p11. [-]
dystonia 27		A segmental dystonia characterized by autosomal re..[+] A 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 has_material_basis_in autosomal recessive inheritance of compound heterozygous mutation in the collagen type VI alpha-3 gene on chromosome 2q37. [-]
dystonia 28, childhood-onset	DYSTONIA 28, CHILDHOOD-ONSET; DYT28;	A dystonia characterized by onset of progressive d..[+] A 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 movements and potential delayed motor and/or cognitive development with mild intellectual disabilityÂ that has_material_basis_in heterozygous mutation in the KMT2B gene on chromosome 19p13. [-]
dystonia 30	DYT30;	A dystonia characterized by the onset of symptoms ..[+] A 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 lose ambulation and have neurocognitive impairment, including mild intellectual disability or psychiatric manifestations with has_material_basis_in heterozygous mutation in the VPS16 gene on chromosome 20p13. [-]
dystonia 31	DYT31; ZECH-BOESCH SYNDROME;	A dystonia characterized by age at onset ranges fr..[+] A 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 patients may have orofacial dyskinesia resulting in articulation and swallowing difficulties that has_material_basis_in homozygous or compound heterozygous mutation in the AOPEP gene on chromosome 9q22. [-]
dystonia 32	DYT32;	A dystonia characterized by onset of symptoms in a..[+] A 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 of the limbs, trunk, neck, and larynx, resulting in dysarthria and dysphagia. Brain imaging may show abnormalities in the basal ganglia that has_material_basis_in homozygous mutation in the VPS11 gene on chromosome 11q23. [-]
dystonia 33		A dystonia characterized by a neurologic disorder ..[+] A 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 has_material_basis_in heterozygous mutation in the EIF2AK2 gene on chromosome 2p22. [-]
dystonia 35, childhood-onset		A dystonia characterized by the onset of a dystoni..[+] A dystonia characterized by the onset of a dystonic movement disorder in the first year of life that has_material_basis_in compound heterozygous mutation in the SHQ1 gene on chromosome 3p13. [-]
dystonia 37, early-onset with striatal lesions		A dystonia characterized by the onset of progressi..[+] A dystonia characterized by the onset of progressive dystonia, dysphagia, and choreoathetosis in the first months or years of life that has_material_basis_in homozygous or compound heterozygous mutations in the NUP54 gene on chromosome 4q21. [-]
dystonia 9	paroxysmal choreoathetosis with spasticity;	A dystonia that is characterized by paroxysmal cho..[+] A dystonia that is characterized by paroxysmal choreoathetosis and progressive spastic paraplegia, with episodes often precipitated by alcohol, fatigue, or emotional stress, and that has_material_basis_in autosomal dominant inheritance of heterozygous mutation in the solute carrier family 2 member 1 (SLC2A1) gene on chromosome 1p34. [-]	1 articles
dystransthyretinemic hyperthyroxinemia		A hyperthyroxinemia that is characterized by an in..[+] A hyperthyroxinemia that is characterized by an increased affinity for thyroxine (T4) by transthyretin in clinically euthyroid individuals and that has_material_basis_in heterozygous mutation in the TTR gene on chromosome 18q12. [-]
dystrophies primarily involving the retinal pigment epithelium		n_a
ear cancer	malignant tumor of ear; auricular cancer; malignan.. [+] malignant tumor of ear; auricular cancer; malignant ear neoplasm; [-]	n_a
early congenital syphilis		A congenital syphilis that is manifested during th..[+] A congenital syphilis that is manifested during the first 3 months of life. The infection has_symptom skin lesions, has_symptom lymphadenopathy, has_symptom hepatosplenomegaly, has_symptom failure to thrive, has_symptom blood-stained nasal discharge, has_symptom perioral fissures, has_symptom meningitis, has_symptom choroiditis, has_symptom hydrocephalus, has_symptom seizures, has_symptom intellectual disability, has_symptom osteochondritis, and has_symptom pseudoparalysis. [-]
early infantile epileptic encephalopathy	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 15; Ear.. [+] EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 15; Early Infantile Epileptic Encephalopathy ; Early Infantile Epileptic Encephalopathy with Burst-Suppression; [-]	A neonatal period electroclinical syndrome that is..[+] A neonatal period electroclinical syndrome that is characterized by tonic spasms and partial seizures. [-]	6 articles	6 matches
early invasive cervical adenocarcinoma		A cervical adenocarcinoma that is characterized by..[+] A cervical adenocarcinoma that is characterized by tumor cells that are identical to those in adenocarcinoma in situ (ACIS) and microscopic findings that suggest invasion. [-]
early myoclonic encephalopathy	Epileptic seizures - myoclonic (disorder); Epilept.. [+] Epileptic seizures - myoclonic (disorder); Epileptic seizures, myoclonic; Myoclonic seizure; Myoclonic seizure disorder; myoclonic epilepsy; Epileptic seizures - myoclonic; myoclonia epileptica; [-]	n_a
early onset absence epilepsy		A childhood electroclinical syndrome characterized..[+] A childhood electroclinical syndrome characterized by the occurrence of typical absence seizures starting between the age of four and ten years. [-]
early-onset dystonia and/or spastic paraplegia		A dystonia characterized by variable onset of dyst..[+] A dystonia characterized by variable onset of dystonia, spasticity, or both that has_material_basis_in heterozygous mutation in the ATP5MC3 gene on chromosome 2q31.1. [-]
early-onset epilepsy 2	EPEO2;	An epilepsy characterized by neonatal to childhood..[+] An epilepsy characterized by neonatal to childhood onset of generalized tonic-clonic seizures that has_material_basis_in heterozygous mutation in the SETD1A gene on chromosome 16p11.2. [-]
early-onset epilepsy 3	EPEO3;	An epilepsy characterized by infantile or childhoo..[+] An epilepsy characterized by infantile or childhood onset of various types of seizures with variable global developmental delay and intellectual disability that has_material_basis_in heterozygous mutation in the ATP6V0C gene on chromosome 16p13.3. [-]	1 articles
early-onset myopathy-areflexia-respiratory distress-dysphagia syndrome	EMARDD; Myopathy, areflexia, respiratory distress,.. [+] EMARDD; Myopathy, areflexia, respiratory distress, and dysphagia, early-onset; congenital myopathy 10A; [-]	A congenital myopathy characterized by proximal an..[+] A congenital myopathy characterized by proximal and generalized muscle weakness, respiratory difficulties, joint contractures, and scoliosis that has_material_basis_in homozygous or compound heterozygous mutation in MEGF10 on chromosome 5q23.2. [-]
early-onset Parkinson's disease	early-onset Parkinson disease; Young-onset Parkins.. [+] early-onset Parkinson disease; Young-onset Parkinson disease; [-]	A Parkinson's disease characterized by onset of mo..[+] A Parkinson's disease characterized by onset of motor symptoms earlier than typically seen, usually prior to 50 years of age. [-]
early onset progressive encephalopathy with brain atrophy and thin corpus callosum	early-onset progressive encephalopathy with brain .. [+] early-onset progressive encephalopathy with brain atrophy and thin corpus callosum; PEBAT; [-]	An autosomal recessive intellectual developmental ..[+] An autosomal recessive intellectual developmental disorder characterized by onset at birth or in infancy of developmental delay, intellectual disability, seizures, secondary hypomyelination, cerebral atrophy, and thin corpus callosum that has_material_basis_in homozygous or compound heterozygous mutation in the TBCD gene on chromosome 17q25. [-]
early-onset vitamin B6-dependent epilepsy 1	early-onset vitamin B6-dependent epilepsy; EPEO1; .. [+] early-onset vitamin B6-dependent epilepsy; EPEO1; PDE-PLPBP; [-]	A pyridoxine-dependent epilepsy that has_material_..[+] A pyridoxine-dependent epilepsy that has_material_basis_in homozygous or compound heterozygous mutation in the PLPBP gene on chromosome 8p11.23. [-]
early-onset vitamin B6-dependent epilepsy 4	AASA dehydrogenase deficiency; antiquitin deficien.. [+] AASA dehydrogenase deficiency; antiquitin deficiency; EPEO4; PDE-ALDH7A1; [-]	A pyridoxine-dependent epilepsy that has_material_..[+] A pyridoxine-dependent epilepsy that has_material_basis_in homozygous or compound heterozygous mutation in the ALDH7A1 gene on chromosome 5q23.2. [-]
early yaws	chancre of yaws; Initial frambesial ulcer; Frambes.. [+] chancre of yaws; Initial frambesial ulcer; Frambesia, initial or primary; primary frambesia; bone and joint lesions due to yaws; bone and joint yaws lesion; Initial lesions of yaws; [-]	A yaws that results in initial papule at the site ..[+] A yaws that results in initial papule at the site of entry of bacteria. Without treatment, this is followed by disseminated skin lesions over the body. Bone pain and bone lesions may also occur. [-]
Eastern equine encephalitis	Neuroinvasive Eastern equine encephalitis virus in.. [+] Neuroinvasive Eastern equine encephalitis virus infection; EEE; [-]	A viral infectious disease that results in inflamm..[+] A viral infectious disease that results in inflammation located in brain of horses and humans, has_material_basis_in Eastern equine encephalitis virus, which is transmitted by Aedes, transmitted by Coquillettidia, and transmitted by Culex species of mosquitoes. The infection has symptom sudden onset of headache, has symptom high fever, has symptom chills, has symptom vomiting, has symptom disorientation, has symptom seizures, and has symptom coma. [-]	1 articles
EAST syndrome	epilepsy, ataxia, sensorineural deafness and tubul.. [+] epilepsy, ataxia, sensorineural deafness and tubulopathy; SeSAME syndrome; seizures, sensorineural deafness, ataxia, mental retardation and electrolyte imbalance; [-]	A syndrome characterized by seizures, sensorineura..[+] A syndrome characterized by seizures, sensorineural deafness, ataxia, mental retardation, and electrolyte imbalance and has_material_basis_in homozygous or compound heterozygous mutation in the KCNJ10 gene on chromosome 1q23. [-]	4 articles
eating disorder		A specific developmental disorder that is characte..[+] A specific developmental disorder that is characterized by abnormal eating habits that may involve either insufficient or excessive food intake to the detriment of an individual's physical and emotional health. [-]
Ebola virus disease	Ebola virus disease; Ebola; Ebola disease; Ebola h.. [+] Ebola virus disease; Ebola; Ebola disease; Ebola hemorrhagic fever; [-]	A viral infectious disease that is a hemorrhagic f..[+] A viral infectious disease that is a hemorrhagic fever, has_material_basis_in Bundibugyo virus (Orthoebolavirus bundibugyoense), Sudan ebolavirus (Orthoebolavirus sudanense), Tai Forest ebolavirus (Orthoebolavirus taiense), or Zaire ebolavirus (Orthoebolavirus zairense), which are transmitted_by contact with the body fluids of an infected animal or person, transmitted by contaminated fomites, or transmitted by infected medical equipment. The infection has_symptom fever, has_symptom headache, has_symptom joint pain, has_symptom muscle aches, has_symptom sore throat, has_symptom weakness, has_symptom diarrhea, has_symptom vomiting, has_symptom stomach pain, has_symptom rash, has_symptom red eyes, has_symptom hiccups, and has_symptom internal and external bleeding. [-]
Ebstein anomaly	Ebstein's anomaly (disorder) [Ambiguous]; Ebstein'.. [+] Ebstein's anomaly (disorder) [Ambiguous]; Ebstein's anomaly of common atrioventricular valve (disorder); Ebstein's anomaly of right atrioventricular valve (disorder); Ebstein's anomaly of tricuspid valve (disorder); Ebstein's anomaly of common atrioventricular valve; Ebstein's anomaly of right atrioventricular valve; Ebstein's anomaly of tricuspid valve; Ebstein's anomaly; [-]	A tricuspid valve disease that is a congenital hea..[+] A tricuspid valve disease that is a congenital heart defect in which the septal leaflet of the tricuspid valve is displaced towards the apex of the right ventricle of the heart. [-]

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