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Disease	Synonyms	Description	Articles
Meier-Gorlin syndrome	ear-patella-short stature syndrome	A syndrome that is characterized by bilateral unde..[+] A syndrome that is characterized by bilateral underdevelopment of the external ear, short stature, absent or underdeveloped patellae and severe prenatal and postnatal growth retardation. [-]
adenoid hypertrophy	enlarged adenoids; adenoidal hypertrophy	An upper respiratory tract disease characterized b..[+] An upper respiratory tract disease characterized by the unusual growth of the adenoid tonsil; has symptom snoring, has symptom hyponasality, has symptom otitis media with effusion, has symptom mouth breathing. [-]
Rapp-Hodgkin syndrome	ectodermal dysplasia, Rapp-Hodgkin type; ectoderma.. [+] ectodermal dysplasia, Rapp-Hodgkin type; ectodermal dysplasia syndrome, Rapp-Hodgkin type; anhidrotic ectodermal dysplasia with cleft lip/palate; RHS [-]	An ectodermal dysplasia characterized by abnormal ..[+] An ectodermal dysplasia characterized by abnormal development of ectodermal tissues including the skin, hair, nails, teeth and sweat glands and anhidrotic ectodermal dysplasia with cleft lip/palate. [-]
multiple acyl-CoA dehydrogenase deficiency	electron transfer flavoprotein ubiquinone oxidored.. [+] electron transfer flavoprotein ubiquinone oxidoreductase deficiency; electron transfer flavoprotein deficiency; glutaric acidemia type 2; MAD deficiency; MADD; glutaric aciduria type 2 [-]	An inherited metabolic disorder characterized by t..[+] An inherited metabolic disorder characterized by the body's inability to break down proteins and fats to produce energy. It is a disorder of fatty acid, amino acid, and choline metabolism and has an autosomal recessive inheritance pattern. It has_material_basis_in mutations in the ETFA, ETFB and ETFDH genes. It presents three clinical phenotypes: a neonatal-onset form with congenital anomalies (type I), a neonatal-onset form without congenital anomalies (type II), and a late-onset form (type III). The neonatal-onset forms are usually fatal. [-]
Parkinson's disease 6	early-onset Parkinson disease 6; autosomal recessi.. [+] early-onset Parkinson disease 6; autosomal recessive early-onset Parkinson disease 6; autosomal recessive early-onset Parkinson's disease 6; PARK6 [-]	An early-onset Parkinson's disease that has_materi..[+] An early-onset Parkinson's disease that has_material_basis_in mutations in the PINK1 gene on chromosome 1p36.12. [-]
orofaciodigital syndrome VIII	Edwards syndrome; OFD8	An orofaciodigital syndrome that is characterized ..[+] An orofaciodigital syndrome that is characterized by tongue lobulation, hypoplasia of the epiglottis, cleft lip, polydactyly, short stature and intellectual deficit, and has_material_basis_in X-linked recessive inheritance. [-]
corneal endothelial dystrophy	endothelial dystrophy	n_a	3 articles
familial erythrocytosis 2	ECYT2; Chuvash erythromatosis; Chuvash type polycy.. [+] ECYT2; Chuvash erythromatosis; Chuvash type polycythemia; familial erythrocytosis 2; autosomal recessive benign erythrocytosis; Chuvash polycythemia [-]	A primary polycythemia that has_material_basis_in ..[+] A primary polycythemia that has_material_basis_in homozygous or compound heterozygous mutation in the VHL gene (608537) on chromosome 3p25. [-]
myoclonic-atonic epilepsy	EEOC; childhood onset epileptic encephalopathy	An idiopathic generalized epilepsy characterized b..[+] An idiopathic generalized epilepsy characterized by onset of multiple seizure types in the first few years of life and associated with poor prognosis. Affected individuals have cognitive regression and intellectual disability and that has_material_basis_in heterozygous mutation in the SLC6A1 gene on chromosome 3p25. [-]	4 articles
MEDNIK syndrome	erythrokeratodermia variabilis, Kamouraska type; e.. [+] erythrokeratodermia variabilis, Kamouraska type; erythrokeratodermia variabilis 3; mental retardation, enteropathy, deafness, neuropathy, ichthyosis, keratodermia [-]	A syndrome characterized by mental retardation, en..[+] A syndrome characterized by mental retardation, enteropathy, deafness, peripheral neuropathy, ichthyosis, and keratoderma. It is cause by homozygous mutation in the AP1S1 gene on chromosome 7q22. [-]
familial erythrocytosis 1	ECYT1; autosomal dominant benign erythrocytosis; p.. [+] ECYT1; autosomal dominant benign erythrocytosis; primary familial and congenital polycythemia [-]	A primary polycythemia that has_material_basis_in ..[+] A primary polycythemia that has_material_basis_in mutation in the gene encoding the erythropoietin receptor. It is characterized by increased serum red blood cell mass and hemoglobin concentration, hypersensitivity of erythroid progenitors to EPO, and low serum levels of EPO. [-]
autosomal dominant nocturnal frontal lobe epilepsy	ENFL	A frontal lobe epilepsy that is characterized by a..[+] A frontal lobe epilepsy that is characterized by autosomal dominant inheritance with childhood onset of clusters of brief nocturnal motor seizures with hyperkinetic or tonic manifestations. [-]	7 articles
autosomal dominant nocturnal frontal lobe epilepsy 1	ENFL1; nocturnal frontal lobe epilepsy 1	An autosomal dominant nocturnal frontal lobe epile..[+] An autosomal dominant nocturnal frontal lobe epilepsy that has_material_basis_in heterozygous mutation in the CHRNA4 gene on chromosome 20q13. [-]	1 articles
autosomal dominant nocturnal frontal lobe epilepsy 2	ENFL2; nocturnal frontal lobe epilepsy 2	An autosomal dominant nocturnal frontal lobe epile..[+] An autosomal dominant nocturnal frontal lobe epilepsy that has_material_basis_in variation in the chromosome region 15q24. [-]	2 articles
autosomal dominant nocturnal frontal lobe epilepsy 3	ENFL3; nocturnal frontal lobe epilepsy 3	An autosomal dominant nocturnal frontal lobe epile..[+] An autosomal dominant nocturnal frontal lobe epilepsy that has_material_basis_in heterozygous mutation in the CHRNB2 gene on chromosome 1q21. [-]
autosomal dominant nocturnal frontal lobe epilepsy 4	ENFL4; nocturnal frontal lobe epilepsy 4	An autosomal dominant nocturnal frontal lobe epile..[+] An autosomal dominant nocturnal frontal lobe epilepsy that has_material_basis_in heterozygous mutation in the CHRNA2 gene on chromosome 8p21. [-]
autosomal dominant nocturnal frontal lobe epilepsy 5	ENFL5; nocturnal frontal lobe epilepsy 5	An autosomal dominant nocturnal frontal lobe epile..[+] An autosomal dominant nocturnal frontal lobe epilepsy that has_material_basis_in heterozygous mutation in the KCNT1 gene on chromosome 9q34. [-]	1 articles
junctional epidermolysis bullosa with pyloric atresia	epidermolysis bullosa junctionalis with pyloric at.. [+] epidermolysis bullosa junctionalis with pyloric atresia; Carmi syndrome; JEB-PA; junctional epidermolysis bullosa-pyloric atresia syndrome [-]	A junctional epidermolysis bullosa characterized b..[+] A junctional epidermolysis bullosa characterized by generalized blistering at birth with congenital atresia of the pylorus and rarely of other portions of the gastrointestinal tract and that has_material_basis_in mutations in the ITGB4 or ITGA6 genes. [-]
junctional epidermolysis bullosa Herlitz type	epidermolysis bullosa letalis; Herlitz type epider.. [+] epidermolysis bullosa letalis; Herlitz type epidermolysis bullosa junctionalis; Herlitz-Pearson-type epidermolysis bullosa; JEB-H; junctional epidermolysis bullosa generalisata gravis; junctional epidermolysis bullosa, Herlitz-Pearson type; JEB-Herlitz type [-]	A junctional epidermolysis bullosa characterized b..[+] A junctional epidermolysis bullosa characterized by autosomal recessive inheritance of severe blisters and extensive erosions, localized to the skin and mucous membranes, resulting in a failure to thrive and that has_material_basis_in mutations in any 1 of the 3 genes encoding the subunits of laminin-5: LAMA3, LAMB3, and LAMC2. The Herlitz type is more severe than the related non-Herlitz type of junctional epidermolysis bullosa. [-]
basal laminar drusen	early adult-onset grouped drusen; cuticular drusen.. [+] early adult-onset grouped drusen; cuticular drusen; drusen of bruch membrane [-]	A retinal drusen characterized by yellow-white dep..[+] A retinal drusen characterized by yellow-white deposits (drusen) that accumulate beneath the retinal pigment epithelium on Bruch membrane and that has_material_basis_in mutations in the CFH gene on chromosome 1q31.3. [-]
familial temporal lobe epilepsy 1	ETL1; partial epilepsy with auditory features	A temporal lobe epilepsy characterized by autosoma..[+] A temporal lobe epilepsy characterized by autosomal dominant inheritance of partial seizures originating from the temporal lobe that are often accompanied by auditory symptoms and that has_material_basis_in heterozygous mutation in the LGI1 gene on chromosome 10q24. [-]
familial temporal lobe epilepsy 6	ETL6	A temporal lobe epilepsy that has_material_basis_i..[+] A temporal lobe epilepsy that has_material_basis_in variation in the chromosome region 3q25-q26. [-]
familial temporal lobe epilepsy 7	ETL7	A temporal lobe epilepsy characterized by autosoma..[+] A temporal lobe epilepsy characterized by autosomal dominant inheritance of focal seizures with prominent auditory symptoms and that has_material_basis_in heterozygous mutation in the RELN gene on chromosome 7q22. [-]
familial temporal lobe epilepsy 5	ETL5	A temporal lobe epilepsy that has_material_basis_i..[+] A temporal lobe epilepsy that has_material_basis_in heterozygous mutation in the CPA6 gene on chromosome 8q13. [-]
familial temporal lobe epilepsy 4	EPOLM; ETL4; occipitotemporal lobe epilepsy and mi.. [+] ETL4; EPOLM; occipitotemporal lobe epilepsy and migraine with aura [-]	A temporal lobe epilepsy characterized by autosoma..[+] A temporal lobe epilepsy characterized by autosomal dominant inheritance of occipitotemporal lobe epilepsy and migraine with visual aura and that has_material_basis_in variation in the chromosome region 9q21-q22. [-]
familial temporal lobe epilepsy 8	ETL8	A temporal lobe epilepsy characterized by autosoma..[+] A temporal lobe epilepsy characterized by autosomal dominant inheritance of complex partial seizures with occasional secondary generalization and that has_material_basis_in heterozygous mutation in the GAL gene on chromosome 11q13. [-]
familial temporal lobe epilepsy 2	ETL2	A temporal lobe epilepsy characterized by autosoma..[+] A temporal lobe epilepsy characterized by autosomal dominant inheritance of complex or partial seizures and childhood febrile seizures that has_material_basis_in variation in the chromosome region 12q22-q23.3. [-]
congenital malabsorptive diarrhea 4	enteric anendocrinosis; congenital malabsorptive d.. [+] enteric anendocrinosis; congenital malabsorptive diarrhea due to paucity of enteroendocrine cells; congenital malabsorptive diarrhoea due to paucity of enteroendocrine cells; congenital malabsorptive diarrhoea 4 [-]	A congenital diarrhea characterized by chronic unr..[+] A congenital diarrhea characterized by chronic unremitting malabsorptive diarrhea and a profound dysgenesis of the enteroendocrine cells that has_material_basis_in mutation in the gene encoding neurogenin-3 (NEUROG3) on chromosome 10q21.3. [-]
Norrie disease	Episkopi blindness; Norrie-Warburg disease; atroph.. [+] Episkopi blindness; Norrie-Warburg disease; atrophia bulborum hereditaria [-]	A syndrome characterized by degenerative and proli..[+] A syndrome characterized by degenerative and proliferative changes of the neuroretina resulting in congenital blindness along with progressive mental disorders in about 50% of patients and sensorineural deafness in about 33% of patients, and that has_material_basis_in mutation in the NDP gene on chromosome Xp11. [-]	1 articles
developmental and epileptic encephalopathy 9	EIEE9; early infantile epileptic encephalopathy 9; .. [+] early infantile epileptic encephalopathy 9; EIEE9; EFMR; early infantile female-limited epilecptic encephalopathy; female restricted epilepsy with mental retardation; DEE9; Juberg Hellman syndrome [-]	A developmental and epileptic encephalopathy chara..[+] A developmental and epileptic encephalopathy characterized by seizure onset in infancy and mild to severe intellectual impairment in females that has_material_basis_in heterozygous mutation in the gene encoding protocadherin-19 (PCDH19) on chromosome Xq22. [-]
prune belly syndrome	Eagle-Barret syndrome; abdominal muscle deficiency.. [+] Eagle-Barret syndrome; abdominal muscle deficiency syndrome; Obrisnksy syndrome [-]	A syndrome that is characterized by megacystis wit..[+] A syndrome that is characterized by megacystis with disorganized detrusor muscle, cryptorchidism, and thin abdominal musculature with overlying lax skin and that has_material_basis_in homozygous mutation in the CHRM3 gene on chromosome 1q43. [-]
Revesz syndrome	exudative retinopathy with bone marrow failure; DK.. [+] exudative retinopathy with bone marrow failure; DKCA5; Dyskeratosis Congenita, Autosomal Dominant 5 [-]	A dyskeratosis congenita that has_material_basis_i..[+] A dyskeratosis congenita that has_material_basis_in a mutation of the TINF2 gene on chromosome 14q12. [-]
familial hyperinsulinemic hypoglycemia 7	exercise-induced hyperinsulinemic hypoglycemia; ex.. [+] exercise-induced hyperinsulinemic hypoglycemia; exercise-induced hyperinsulinism; EIHI; hyperinsulinism due to monocarboxylate transporter 1 deficiency; HHF7; hyperinsulinism due to SLC16A1 deficiency [-]	A hyperinsulinemic hypoglycemia characterized by a..[+] A hyperinsulinemic hypoglycemia characterized by autosomal dominant inheritance of postexercise hypoglycemia with marked hyperinsulinism that has_material_basis_in mutation in the SLC16A1 gene on chromosome 1p13.2. [-]
primary coenzyme Q10 deficiency 5	encephalopathy-hypertrophic cardiomyopathy-renal t.. [+] encephalopathy-hypertrophic cardiomyopathy-renal tubular disease syndrome; coenzyme Q10 deficiency, primary, 5; COQ10D5 [-]	A primary coenzyme Q10 deficiency that has_materia..[+] A primary coenzyme Q10 deficiency that has_material_basis_in an autosomal recessive mutation of the COQ9 gene on chromosome 16q21. [-]
autosomal dominant Emery-Dreifuss muscular dystrophy 2	Emery-Dreifuss muscular dystrophy, autosomal domin.. [+] Emery-Dreifuss muscular dystrophy, autosomal dominant; Emery-Dreifuss muscular dystrophy 2, autosomal dominant; EMD2; EDMD2; autosomal dominant limb-girdle muscular dystrophy type 1B; Hauptmann-Thannhauser muscular dystrophy; muscular dystrophy with early contractures and cardiomyopathy, autosomal dominant; scapuloilioperoneal atrophy with cardiopathy [-]	An Emery-Dreifuss muscular dystrophy that has_mate..[+] An Emery-Dreifuss muscular dystrophy that has_material_basis_in an autosomal dominant mutation of the LMNA gene on chromosome 1q22. [-]
autosomal recessive Emery-Dreifuss muscular dystrophy 3	Emery-Dreifuss muscular dystrophy 3, autosomal rec.. [+] Emery-Dreifuss muscular dystrophy 3, autosomal recessive; EDMD3 [-]	An Emery-Dreifuss muscular dystrophy that has_mate..[+] An Emery-Dreifuss muscular dystrophy that has_material_basis_in an autosomal recessive mutation of the LMNA gene on chromosome 1q22. [-]
autosomal dominant Emery-Dreifuss muscular dystrophy 4	Emery-Dreifuss muscular dystrophy 4, autosomal dom.. [+] Emery-Dreifuss muscular dystrophy 4, autosomal dominant; Emery-Dreifuss muscular dystrophy 4 with variable features; EDMD4 [-]	An Emery-Dreifuss muscular dystrophy that has_mate..[+] An Emery-Dreifuss muscular dystrophy that has_material_basis_in an autosomal dominant mutation of the SYNE1 gene on chromosome 6q25.2. [-]
autosomal dominant Emery-Dreifuss muscular dystrophy 5	Emery-Dreifuss muscular dystrophy 5, autosomal dom.. [+] Emery-Dreifuss muscular dystrophy 5, autosomal dominant; EDMD5 [-]	An Emery-Dreifuss muscular dystrophy that has_mate..[+] An Emery-Dreifuss muscular dystrophy that has_material_basis_in an autosomal dominant mutation of the SYNE2 gene on chromosome 14q23.2. [-]
X-linked Emery-Dreifuss muscular dystrophy 6	Emery-Dreifuss muscular dystrophy 6, X-linked; EDM.. [+] Emery-Dreifuss muscular dystrophy 6, X-linked; EDMD6; myopathy, X-linked, with postural muscle atrophy; XMPMA [-]	An Emery-Dreifuss muscular dystrophy that has_mate..[+] An Emery-Dreifuss muscular dystrophy that has_material_basis_in an X-linked recessive mutation of the FHL1 gene on chromosome Xq26.3. [-]
autosomal dominant Emery-Dreifuss muscular dystrophy 7	Emery-Dreifuss muscular dystrophy 7, autosomal dom.. [+] Emery-Dreifuss muscular dystrophy 7, autosomal dominant; EDMD7 [-]	An Emery-Dreifuss muscular dystrophy that has_mate..[+] An Emery-Dreifuss muscular dystrophy that has_material_basis_in an autosomal dominant mutation of the TMEM43 gene on chromosome 3p25.1. [-]
congenital disorder of glycosylation type IIm	epileptic encephalopathy, early infantile, 22; con.. [+] epileptic encephalopathy, early infantile, 22; congenital disorder of glycosylation type 2m; developmental and epileptic encephalopathy 22; SLC35A2-CDG [-]	A congenital disorder of glycosylation type II tha..[+] A congenital disorder of glycosylation type II that is characterized by infantile onset seizures, hypsarrhythmia, hypotonia, and severe intellectual disability with lack of speech and that has_material_basis_in X-linked dominant inheritance of hemizygous or heterozygous mutation in the SLC35A2 gene on chromosome Xp11.23. [-]
multiple epiphyseal dysplasia 5	EDM5; BHMED; bilateral hereditary microepiphyseal .. [+] EDM5; BHMED; bilateral hereditary microepiphyseal dysplasia; multiple epiphyseal dysplasia MATN3-related [-]	A multiple epiphyseal dysplasia that has_material_..[+] A multiple epiphyseal dysplasia that has_material_basis_in heterozygous mutation in the MATN3 gene on chromosome 2p24. [-]
multiple epiphyseal dysplasia 4	EDM4; MED4; multiple epiphyseal dysplasia with clu.. [+] EDM4; MED4; multiple epiphyseal dysplasia with clubfoot; Polyepiphyseal dysplasia type 4; rMED; multiple epiphyseal dysplasia with bilateral patellae [-]	A multiple epiphyseal dysplasia that has_material_..[+] A multiple epiphyseal dysplasia that has_material_basis_in homozygous mutation in the SLC26A2 gene on chromosome 5q32. [-]
multiple epiphyseal dysplasia 1	EDM1; MED1; multiple epiphyseal dysplasia COMP-rel.. [+] EDM1; MED1; multiple epiphyseal dysplasia COMP-related; polyepiphyseal dysplasia type 1 [-]	A multiple epiphyseal dysplasia that has_material_..[+] A multiple epiphyseal dysplasia that has_material_basis_in heterozygous mutation in the COMP gene on chromosome 19p13. [-]
Miura type epiphyseal chondrodysplasia	ECDM; tall stature-scoliosis-macrodactyly of the g.. [+] ECDM; tall stature-scoliosis-macrodactyly of the great toes syndrome; tall stature-scoliosis-macrodactyly of the halluces syndrome [-]	A bone developmental disease characterized by tall..[+] A bone developmental disease characterized by tall stature, scoliosis and macrodactyly of the great toes that has_material_basis_in heterozygous mutation in the NPR2 gene on chromosome 9p13. [-]
systemic Epstein-Barr virus positive T-cell lymphoma of childhood	EBV-positive T-cell lymphoproliferative disorder o.. [+] EBV-positive T-cell lymphoproliferative disorder of childhood; systemic EBV-positive T-cell lymphoma of childhood [-]	A childhood lymphoma that is characterized by mono..[+] A childhood lymphoma that is characterized by monoclonal expansion of Epstein-Barr virus-positive T cells with an activated cytotoxic phenotype in tissues or peripheral blood. [-]
developmental and epileptic encephalopathy 64	early infantile epileptic encephalopathy 64; DEE64.. [+] early infantile epileptic encephalopathy 64; DEE64 [-]	A developmental and epileptic encephalopathy chara..[+] A developmental and epileptic encephalopathy characterized by infantile onset of seizures, severe intellectual disabilities, impaired motor functions, movement disorders, and postnatal microcephaly that has_material_basis_in heterozygous mutation in the RHOBTB2 gene on chromosome 8p21. [-]
developmental and epileptic encephalopathy 85	early infantile epileptic encephalopathy 85; DEE85.. [+] early infantile epileptic encephalopathy 85; DEE85 [-]	A developmental and epileptic encephalopathy chara..[+] A 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, and dysmorphic facial features that has_material_basis_in heterozygous mutation in the SMC1A gene on chromosome Xp11. [-]
developmental and epileptic encephalopathy 95	early infantile epileptic encephalopathy 95; DEE95.. [+] early infantile epileptic encephalopathy 95; DEE95 [-]	A developmental and epileptic encephalopathy chara..[+] A developmental and epileptic encephalopathy characterized by severely impaired global development, hypotonia, weakness, ataxia, coarse facial features, and intractable seizures that has_material_basis_in homozygous or compound heterozygous mutation in the PIGS gene on chromosome 17q11. [-]
developmental and epileptic encephalopathy 97	early infantile epileptic encephalopathy 97; DEE97.. [+] early infantile epileptic encephalopathy 97; DEE97 [-]	A developmental and epileptic encephalopathy chara..[+] A developmental and epileptic encephalopathy characterized by onset of seizures in the first months of life that has_material_basis_in heterozygous mutation in the CELF2 gene on chromosome 10p14. [-]

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