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Disease	Synonyms	Description	Articles	Phenotypes
Diamond-Blackfan anemia 13	DBA13; RPS29-related Diamond-Blackfan anemia	A Diamond-Blackfan anemia that has_material_basis_..[+] A Diamond-Blackfan anemia that has_material_basis_in heterozygous mutation in the RPS29 gene on chromosome 14q21.3. [-]
Diamond-Blackfan anemia 4	DBA4; RPS17-related Diamond-Blackfan anemia	A Diamond-Blackfan anemia that has_material_basis_..[+] A Diamond-Blackfan anemia that has_material_basis_in heterozygous mutation in the RPS17 gene on chromosome 15q25.2. [-]
Diamond-Blackfan anemia 20	DBA20; RPS15A-related Diamond-Blackfan anemia	A Diamond-Blackfan anemia that has_material_basis_..[+] A Diamond-Blackfan anemia that has_material_basis_in heterozygous mutation in the RPS15A gene on chromosome 16p12.3. [-]
Diamond-Blackfan anemia 11	DBA11; RPL26-related Diamond-Blackfan anemia	A Diamond-Blackfan anemia that has_material_basis_..[+] A Diamond-Blackfan anemia that has_material_basis_in heterozygous mutation in the RPL26 gene on chromosome 17p13.1. [-]
Diamond-Blackfan anemia 16	DBA16; RPL27-related Diamond-Blackfan anemia	A Diamond-Blackfan anemia that has_material_basis_..[+] A Diamond-Blackfan anemia that has_material_basis_in heterozygous mutation in the RPL27 gene on chromosome 17q21.31. [-]
Diamond-Blackfan anemia 15 with mandibulofacial dysostosis	DBA15	A Diamond-Blackfan anemia characterized by Diamond..[+] A 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 has_material_basis_in heterozygous mutation in the RPS28 gene on chromosome 19p13.2. [-]
Diamond-Blackfan anemia 1	DBA1; RPS19-related Diamond-Blackfan anemia	A Diamond-Blackfan anemia that has_material_basis_..[+] A Diamond-Blackfan anemia that has_material_basis_in heterozygous mutation in the RPS19 gene on chromosome 19q13.2. [-]
Diamond-Blackfan anemia 18	DBA18; RPL18-related Diamond-Blackfan anemia	A Diamond-Blackfan anemia that has_material_basis_..[+] A Diamond-Blackfan anemia that has_material_basis_in heterozygous mutation in the RPL18 gene on chromosome 19q13.33. [-]
Diamond-Blackfan anemia 14 with mandibulofacial dysostosis	DBA14	A Diamond-Blackfan anemia characterized by Diamond..[+] A Diamond-Blackfan anemia characterized by Diamond-Blackfan anemia, bilateral microtia, and cleft palate that has_material_basis_in hemizygous mutation in the TSR2 gene on chromosome Xp11.22. [-]
deafness, dystonia, and cerebral hypomyelination	severe motor and intellectual disabilities-sensori.. [+] severe motor and intellectual disabilities-sensorineural deafness-dystonia syndrome; severe motor and intellectual disabilities-sensorineural hearing loss-dystonia syndrome [-]	A syndrome characterized by motor and intellectual..[+] A syndrome characterized by motor and intellectual disabilities, dystonia, sensorineural deafness, white-matter changes and disorganization of the Golgi apparatus that has_material_basis_in heterozygous mutation in the BCAP31 gene on chromosome Xq28. [-]
De Sanctis-Cacchione syndrome	xeroderma pigmentosum with neurologic manifestatio.. [+] xeroderma pigmentosum with neurologic manifestation [-]	A xeroderma pigmentosum characterized by xeroderma..[+] A xeroderma pigmentosum characterized by xeroderma pigmentosum, short stature, intellectual disabilities, and progressive neurologic degeneration. [-]
distal arthrogryposis type 1C	DA1C	A distal arthrogryposis type 1 characterized by co..[+] A distal arthrogryposis type 1 characterized by congenital contractures, scoliosis, and short stature that has_material_basis_in heterozygous or homozygous mutation in the MYLPF gene on chromosome 16p11.2. [-]
developmental and epileptic encephalopathy 67	DEE67; early infantile epileptic encephalopathy 67.. [+] DEE67; early infantile epileptic encephalopathy 67 [-]	A developmental and epileptic encephalopathy chara..[+] A 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 disorders, and stereotypic or autistic behavior that has_material_basis_in heterozygous mutation in the CUX2 gene on chromosome 12q24.11-q24.12. [-]
developmental and epileptic encephalopathy 68	DEE68; early infantile epileptic encephalopathy 68.. [+] DEE68; early infantile epileptic encephalopathy 68 [-]	A developmental and epileptic encephalopathy chara..[+] A 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 has_material_basis_in homozygous or compound heterozygous mutation in the TRAK1 gene on chromosome 3p22.1. [-]
developmental and epileptic encephalopathy 69	DEE69; early infantile epileptic encephalopathy 69.. [+] DEE69; early infantile epileptic encephalopathy 69 [-]	A developmental and epileptic encephalopathy chara..[+] A developmental and epileptic encephalopathy characterized by early-onset refractory seizures, hypotonia, and profoundly impaired development that has_material_basis_in heterozygous mutation in the CACNA1E gene on chromosome 1q25.3. [-]
developmental and epileptic encephalopathy 70	DEE70; early infantile epileptic encephalopathy 70.. [+] DEE70; early infantile epileptic encephalopathy 70 [-]	A developmental and epileptic encephalopathy chara..[+] A 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 walking and language skills, and moderate to severe intellectual impairment that has_material_basis_in heterozygous mutation in the PHACTR1 gene on chromosome 6p24.1. [-]
developmental and epileptic encephalopathy 71	DEE71; early infantile epileptic encephalopathy 71.. [+] DEE71; early infantile epileptic encephalopathy 71; glutaminase deficiency with neonatal epileptic encephalopathy [-]	A developmental and epileptic encephalopathy chara..[+] A 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 has_material_basis_in homozygous or compound heterozygous mutation in GLS on chromosome 2q32.2. [-]
developmental and epileptic encephalopathy 72	DEE72; early infantile epileptic encephalopathy 72.. [+] DEE72; early infantile epileptic encephalopathy 72 [-]	A developmental and epileptic encephalopathy chara..[+] A 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 language skills that has_material_basis_in heterozygous mutation in the NEUROD2 gene on chromosome 17q12. [-]
developmental and epileptic encephalopathy 73	DEE73; early infantile epileptic encephalopathy 73.. [+] DEE73; early infantile epileptic encephalopathy 73 [-]	A developmental and epileptic encephalopathy chara..[+] A 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 properly that has_material_basis_in heterozygous mutation in the RNF13 gene on chromosome 3q25.1. [-]
developmental and epileptic encephalopathy 74	DEE74; early infantile epileptic encephalopathy 74.. [+] DEE74; early infantile epileptic encephalopathy 74 [-]	A developmental and epileptic encephalopathy chara..[+] A 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, and absent language that has_material_basis_in heterozygous mutation in the GABRG2 gene on chromosome 5q34. [-]
developmental and epileptic encephalopathy 75	DEE75; early infantile epileptic encephalopathy 75.. [+] DEE75; early infantile epileptic encephalopathy 75 [-]	A developmental and epileptic encephalopathy chara..[+] A 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 inability to walk, absent speech, and hypotonia with axial hyperreflexia that has_material_basis_in homozygous or compound heterozygous mutation in the PARS2 gene on chromosome 1p32.3. [-]
developmental and epileptic encephalopathy 76	DECAM; developmental delay, epileptic endephalopat.. [+] DECAM; developmental delay, epileptic endephalopathy, cerebral atrophy, and abnormal myelination; DEE76; early infantile epileptic encephalopathy 76 [-]	A developmental and epileptic encephalopathy chara..[+] A developmental and epileptic encephalopathy characterized by early-onset, usually refractory, seizures, severely delayed global development, hypotonia, peripheral spasticity, and abnormalities on brain imaging that has_material_basis_in homozygous or compound heterozygous mutation in the ACTL6B gene on chromosome 7q22.1. [-]
developmental and epileptic encephalopathy 78	DEE78; early infantile epileptic encephalopathy 78.. [+] DEE78; early infantile epileptic encephalopathy 78 [-]	A developmental and epileptic encephalopathy chara..[+] A 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 has_material_basis_in heterozygous mutation in the GABRA2 gene on chromosome 4p12. [-]
developmental and epileptic encephalopathy 79	DEE79; early infantile epileptic encephalopathy 79.. [+] DEE79; early infantile epileptic encephalopathy 79 [-]	A developmental and epileptic encephalopathy chara..[+] A 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 corpus callosum that has_material_basis_in heterozygous mutation in the GABRA5 gene on chromosome 15q12. [-]
developmental and epileptic encephalopathy 80	DEE80; early infantile epileptic encephalopathy 80.. [+] DEE80; early infantile epileptic encephalopathy 80; glycosylphosphatidylinositol biosynthesis defect 20; GPIBD20 [-]	A developmental and epileptic encephalopathy chara..[+] A 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 has_material_basis_in homozygous or compound heterozygous mutation in the PIGB gene on chromosome 15q21.3. [-]
developmental and epileptic encephalopathy 81	DEE81; early infantile epileptic encephalopathy 81.. [+] DEE81; early infantile epileptic encephalopathy 81 [-]	A developmental and epileptic encephalopathy chara..[+] A 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 callosum, and progressive leukoencephalopathy that has_material_basis_in homozygous or compound heterozygous mutation in the DMXL2 gene on chromosome 15q21.2. [-]
developmental and epileptic encephalopathy 83	DEE83; early infantile epileptic encephalopathy 83.. [+] DEE83; early infantile epileptic encephalopathy 83 [-]	A developmental and epileptic encephalopathy chara..[+] A 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 has_material_basis_in homozygous or compound heterozygous mutation in the UGP2 gene on chromosome 2p15. [-]
developmental and epileptic encephalopathy 84	DEE84; early infantile epileptic encephalopathy 84.. [+] DEE84; early infantile epileptic encephalopathy 84; Jamuar syndrome [-]	A developmental and epileptic encephalopathy chara..[+] A 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 inability to walk that has_material_basis_in homozygous or compound heterozygous mutation in the UGDH gene on chromosome 4p14. [-]
developmental and epileptic encephalopathy 86	DEE86; early infantile epileptic encephalopathy 86.. [+] DEE86; early infantile epileptic encephalopathy 86 [-]	A developmental and epileptic encephalopathy that ..[+] A developmental and epileptic encephalopathy that has_material_basis_in homozygous or compound heterozygous mutation in the DALRD2 gene on chromosome 3p21.31. [-]
developmental and epileptic encephalopathy 87	DEE87; early infantile epileptic encephalopathy 87.. [+] DEE87; early infantile epileptic encephalopathy 87 [-]	A developmental and epileptic encephalopathy chara..[+] A 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 between 6 and 15 months of age that has_material_basis_in heterozygous mutation in the CDK19 gene on chromosome 6q21. [-]
developmental and epileptic encephalopathy 88	DEE88; early infantile epileptic encephalopathy 88.. [+] DEE88; early infantile epileptic encephalopathy 88 [-]	A developmental and epileptic encephalopathy that ..[+] A developmental and epileptic encephalopathy that has_material_basis_in homozygous or compound heterozygous mutation in the MDH1 gene on chromosome 2p15. [-]
developmental and epileptic encephalopathy 89	DEE89; early infantile epileptic encephalopathy 89.. [+] DEE89; early infantile epileptic encephalopathy 89 [-]	A developmental and epileptic encephalopathy chara..[+] A 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 hypotonia, and spastic quadriparesis that has_material_basis_in homozygous or compound heterozygous mutation in the GAD1 gene on chromosome 2q31.1. [-]
developmental and epileptic encephalopathy 93	DEE93; IECEE3; infantile or early childhood epilep.. [+] DEE93; IECEE3; infantile or early childhood epileptic encephalopathy 3 [-]	A developmental and epileptic encephalopathy chara..[+] A developmental and epileptic encephalopathy characterized by delayed psychomotor development, early-onset refractory seizures, and impaired intellectual development that has_material_basis_in heterozygous mutation in the ATP6V1A gene on chromosome 3q13.31. [-]
mitral valve disease	disease of mitral valve; Rheumatic disease of mitr.. [+] disease of mitral valve; Rheumatic disease of mitral valve (disorder); Rheumatic mitral insufficiency; rheumatic mitral valve incompetence; Rheumatic mitral valve regurgitation; chronic rheumatic mitral valve (disorder); rheumatic disease of mitral valve; Rheumatic mitral valve changes; chronic rheumatic mitral valve; Mitral RH valve dis.; Rheumatic disease of mitral valve [-]	n_a	1 articles
connective tissue disease	disorder of connective tissue; connective tissue d.. [+] disorder of connective tissue; connective tissue disorder [-]	A musculoskeletal system disease that affects tiss..[+] A musculoskeletal system disease that affects tissues such as skin, tendons, and cartilage. [-]	64 articles	69 matches
hematopoietic system disease	disease of hematopoietic system; disease of haemat.. [+] disease of hematopoietic system; disease of haematopoietic system; DISEASE OF THE BLOOD AND BLOOD-FORMING ORGANS; blood disorder; Blood dyscrasia NOS; Hematological disease; Blood dyscrasia; haematopoietic system disease; Blood disease [-]	A disease of anatomical entity that has_material_b..[+] A disease of anatomical entity that has_material_basis_in hematopoietic cells. [-]	34 articles	5 matches
lymphatic system disease	disorder of lymph node and lymphatics; disorder of.. [+] disorder of lymph node and lymphatics; disorder of lymphoid system; disorder of lymph node and lymphatics (disorder); disorder of lymphatic system; disease of lympoid system; Lymphangiopathy, NOS; Lymphatic disease; Lymphatic disorder; lympoid system disease; Adenopathy; Lymphangiopathy; lymphatic disorder [-]	An immune system disease that is located_in the ly..[+] An immune system disease that is located_in the lymphatic system. [-]	6 articles
gastrointestinal system disease	digestive system disorder; alimentary system disea.. [+] digestive system disorder; alimentary system disease; gastrointestinal disorder; GIT disease; Gastroenteropathy; gastrointestinal disease [-]	A disease of anatomical entity that is located_in ..[+] A disease of anatomical entity that is located_in the gastrointestinal tract. [-]	57 articles	14 matches
enamel caries	Dental caries limited to enamel; primary dental ca.. [+] Dental caries limited to enamel; primary dental caries; simple dental cavity [-]	n_a
accessory nerve disease	disorder of accessory nerve; disorder of accessory.. [+] disorder of accessory nerve; disorder of accessory nerve (disorder); disorder of accessory [11th] nerve; disorder of 11th nerve; Eleventh nerve disorder [-]	A glossopharyngeal nerve disease that is character..[+] A glossopharyngeal nerve disease that is characterized by involvement of the accessory nerve (eleventh cranial nerve). [-]
olfactory nerve disease	disorder of olfactory nerve; disorder of 1st nerve.. [+] disorder of olfactory nerve; disorder of 1st nerve; disorder of olfactory nerve (disorder); disorder of olfactory [1st] nerve [-]	A brain disease that is characterized by nerve inj..[+] A brain disease that is characterized by nerve injury located_in olfactory nerve, occurring as a result of normal aging, trauma, mass lesion or other insult, and has_symptom impaired sense of smell, has_symptom anosmia or loss of smell. [-]	1 articles
liver disease	disorder of liver (disorder); disorder of liver; h.. [+] disorder of liver; disorder of liver (disorder); hepatic disorder [-]	n_a	9 articles	3 matches
scleroderma	dermatosclerosis	A rheumatic disease that involves the abnormal gro..[+] A rheumatic disease that involves the abnormal growth of connective tissue, which supports the skin and internal organs. [-]	1 articles
aortic disease	disorder of the aorta; disorder of the aorta (diso.. [+] disorder of the aorta; disorder of the aorta (disorder); aortic disorder [-]	An artery disease that is characterized by degener..[+] An artery disease that is characterized by degeneration of the cells composing the aortic wall. [-]	5 articles
thymus gland disease	disease of thymus gland	n_a
third cranial nerve disease	disorder of oculomotor nerve; Oculomotor nerve dis.. [+] disorder of oculomotor nerve; Oculomotor nerve disorder; Third cranial nerve disease (disorder); Third cranial nerve disease [-]	n_a
biotinidase deficiency	deficiency of biotinidase; deficiency of biotinida.. [+] deficiency of biotinidase; deficiency of biotinidase (disorder); BTD deficiency; Late-onset multiple carboxylase deficiency; Juvenile-onset multiple carboxylase deficiency [-]	A multiple carboxylase deficiency that involves a ..[+] A multiple carboxylase deficiency that involves a deficiency in biotinidase as the body is not able to use biotin and results in biotin deficiency, and has_material_basis_in homozygous or compound heterozygous mutation in the BTD gene on chromosome 3p25. [-]
Hartnup disease	deficiency of tryptophan oxygenase; neutral amino .. [+] deficiency of tryptophan oxygenase; neutral amino acid transport defect; Neutral 1 amino acid transport defect (disorder); Neutral 1 amino acid transport defect [-]	An amino acid metabolic disorder that is caused by..[+] An amino acid metabolic disorder that is caused by abnormalities of the renal tubules and is characterized especially by aminoaciduria involving only monocarboxylic monoamines, a dry red scaly rash, and episodic muscular incoordination due to the effects of the disease on the cerebellum. [-]
Fanconi syndrome	De Toni-Fanconi syndrome; deToni Fanconi syndrome; .. [+] deToni Fanconi syndrome; De Toni-Fanconi syndrome; adult Fanconi syndrome; Fanconi-de Toni syndrome; Fanconi-de-Toni syndrome; Infantile nephropathic cystinosis; Lignac-Fanconi syndrome; Congenital Fanconi syndrome (disorder); Congenital Fanconi syndrome; adult Fanconi Anemia [-]	A renal tubular transport disease of the proximal ..[+] A renal tubular transport disease of the proximal renal tubes characterized by glucosuria, phosphaturia, generalized aminoaciduria and HCO3 wasting. [-]	2 articles
filariasis	disease due to superfamily Filarioidea; disease du.. [+] disease due to superfamily Filarioidea; disease due to superfamily Filarioidea (disorder) [-]	A parasitic helminthiasis infectious disease that ..[+] A parasitic helminthiasis infectious disease that involves parasitic infection of the lymphatics and subcutaneous tissue by nematodes of the superfamily Filarioidea. [-]

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