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Disease	Synonyms	Description
developmental and epileptic encephalopathy 49	early infantile epileptic encephalopathy 49; DEE49.. [+] early infantile epileptic encephalopathy 49; DEE49 [-]	A developmental and epileptic encephalopathy chara..[+] A 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 has_material_basis_in homozygous or compound heterozygous mutation in the DENND5A gene on chromosome 11p15. [-]
developmental and epileptic encephalopathy 21	early infantile epileptic encephalopathy 21; DEE21.. [+] early infantile epileptic encephalopathy 21; DEE21 [-]	A developmental and epileptic encephalopathy chara..[+] A developmental and epileptic encephalopathy characterized by onset in the first months of life by intractable seizures and severely impaired psychomotor development that has_material_basis_in homozygous or compound heterozygous mutation in the NECAP1 gene on chromosome 12p13. [-]
developmental and epileptic encephalopathy 48	early infantile epileptic encephalopathy 48; DEE48.. [+] early infantile epileptic encephalopathy 48; DEE48 [-]	A developmental and epileptic encephalopathy chara..[+] A 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 has_material_basis_in homozygous or compound heterozygous mutation in the AP3B2 gene on chromosome 15q25. [-]
developmental and epileptic encephalopathy 17	early infantile epileptic encephalopathy 17; DEE17.. [+] early infantile epileptic encephalopathy 17; DEE17 [-]	A developmental and epileptic encephalopathy chara..[+] A developmental and epileptic encephalopathy characterized by onset in the first weeks or months of life of intractable seizures and very poor psychomotor development that has_material_basis_in heterozygous mutation in the GNAO1 gene on chromosome 16q13. [-]
developmental and epileptic encephalopathy 42	early infantile epileptic encephalopathy 42; DEE42.. [+] early infantile epileptic encephalopathy 42; DEE42 [-]	A developmental and epileptic encephalopathy chara..[+] A 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 has_material_basis_in heterozygous mutation in the CACNA1A gene on chromosome 19p13. [-]
developmental and epileptic encephalopathy 7	early infantile epileptic encephalopathy 7; KCNQ2-.. [+] early infantile epileptic encephalopathy 7; KCNQ2-related epileptic encephalopathy; KCNQ2-related neonatal epileptic encephalopathy [-]	A developmental and epileptic encephalopathy chara..[+] A developmental and epileptic encephalopathy characterized by infantile onset of refractory seizures, delayed neurological development, and persistent neurologic abnormalities that has_material_basis_in heterozygous mutation in the KCNQ2 gene on chromosome 20q13. [-]
Huntington disease-like 1	early-onset prion disease with prominent psychiatr.. [+] early-onset prion disease with prominent psychiatric features; autosomal dominant Huntington-like neurodegenerative disorder; HDL1; HLN1; Huntington-like neurodegenerative disorder 1 [-]	A prion disease characterized by a phenocopy of Hu..[+] A prion disease characterized by a phenocopy of Huntington disease (unwanted choreatic movements, behavioral and psychiatric disturbances and dementia) that has material_basis_in the presence of 8 extra octapeptide repeats in the PRNP gene on chromosome 20p13. [-]
amelogenesis imperfecta type 1G	enamel-renal-gingival syndrome; ERS; enamel-renal .. [+] ERS; enamel-renal-gingival syndrome; enamel-renal syndrome; AI1G; AIGFS; amelogenesis imperfecta and gingival fibromatosis syndrome; amelogenesis imperfecta hypoplastic with nephrocalcinosis; amelogenesis imperfecta type IG [-]	An amelogenesis imperfecta that has material basis..[+] An amelogenesis imperfecta that has material basis in homozygous or compound heterozygous mutation in the FAM20A gene on chromosome 17q24. [-]
cataract 25	early-onset cataract with Y-shaped suture opacitie.. [+] early-onset cataract with Y-shaped suture opacities; CCSSO; central pouch-like cataract with sutural opacities; central saccular cataract with sutural opacities; CTRCT25 [-]	A cataract that has_material_basis_in variation in..[+] A cataract that has_material_basis_in variation in the region 15q21-q22. [-]
rigid spine muscular dystrophy 1	Eichsfeld type congenital muscular dystrophy; earl.. [+] Eichsfeld type congenital muscular dystrophy; early-onset desmin-related myopathy; classic MmD; classic multiminicore disease; classic multiminicore myopathy; congenital merosin-positive muscular dystrophy with early spine rigidity; desmin-related myopathy with Mallory bodies; desmin-related myopathy with Mallory body-like inclusions; MDRS1; rigid spine syndrome; RSMD1; RSS; SEPN1-related myopathy; severe classic form minicore myopathy; severe classic form multicore myopathy; severe classic form multiminicore disease [-]	A congenital muscular dystrophy characterized by i..[+] A congenital muscular dystrophy characterized by intrasarcoplasmic aggregates of desmin resulting in spinal rigidity, abnormal posture (limitation of neck and trunk flexure), progressive scoliosis of the spine, early marked cervico-axial muscle weakness with relatively preserved strength and function of the extremities and progressive respiratory insufficiency that has_material_basis_in homozygous or compound heterozygous mutation in the SEPN1 gene on chromosome 1p36. [-]
congenital myasthenic syndrome 5	Engel congenital myasthenic syndrome; end plate ac.. [+] Engel congenital myasthenic syndrome; end plate acetylcholinesterase deficiency; EAD; CMS Ic; CMS5; congenital myasthenic syndrome Engel type; congenital myasthenic syndrome type Ic [-]	A congenital myasthenic syndrome characterized by ..[+] A congenital myasthenic syndrome characterized by autosomal recessive inheritance of a defect within the synapse at the neuromuscular junction resulting in prolonged synaptic currents and action potentials that has_material_basis_in homozygous or compound heterozygous mutation in the COLQ gene on chromosome 3p25. [-]
neuronal ceroid lipofuscinosis 8 northern epilepsy variant	EPMR; northern epilepsy variant, neuronal ceroid l.. [+] EPMR; northern epilepsy variant, neuronal ceroid lipofuscinosis, Northern epilepsy variant; progressive epilepsy with mental retardation, northern epilepsy; progressive epilepsy-intellectual disability syndrome, Finnish type [-]	A neuronal ceroid lipofuscinosis that is character..[+] A neuronal ceroid lipofuscinosis that is characterized by onset at 5 to 10 years of age of epilepsy followed by progressive mental retardation and a mixed combination of 'granular,' 'curvilinear,' and 'fingerprint' profile lipopigment patterns and has_material_basis_in a Finnish founder mutation in the CLN8 gene on chromosome 8p23. [-]
inflammatory bowel disease 28	early onset autosomal recessive inflammatory bowel.. [+] early onset autosomal recessive inflammatory bowel disease 28; IBD28 [-]	An inflammatory bowel disease characterized by aut..[+] An inflammatory bowel disease characterized by autosomal recessive inheritance that has_material_basis_in homozygous or compound heterozygous mutation in the IL10RA gene on chromosome 11q23. [-]
inflammatory bowel disease 25	early onset autosomal recessive inflammatory bowel.. [+] early onset autosomal recessive inflammatory bowel disease 25; IBD25 [-]	An inflammatory bowel disease characterized by aut..[+] An inflammatory bowel disease characterized by autosomal recessive inheritance that has_material_basis_in homozygous mutation in the IL10RB gene on chromosome 21q22. [-]
autosomal recessive isolated ectopia lentis 2	ECTOL2	An isolated ectopia lentis that has_material_basis..[+] An isolated ectopia lentis that has_material_basis_in homozygous or compound heterozygous mutation in the ADAMTSL4 gene on chromosome 1q21. [-]
autosomal dominant isolated ectopia lentis 1	ECTOL1	An isolated ectopia lentis that has_material_basis..[+] An isolated ectopia lentis that has_material_basis_in heterozygous mutation in the FBN1 gene on chromosome 15q21. [-]
pentosuria	essential pentosuria; L-xylulose reductase deficie.. [+] essential pentosuria; L-xylulose reductase deficiency; L-xylulosuria; PNTSU; xylitol dehydrogenase deficiency [-]	An amino acid metabolic disorder characterized by ..[+] An amino acid metabolic disorder characterized by excretion of excess pentose L-xylulose (1-4 g/day) in the urine that has_material_basis_in homozygous or compound heterozygous mutation in DCXR on 17q25.3. [-]
occipital horn syndrome	Ehlers-Danlos syndrome type IX; Ehlers-Danlos synd.. [+] Ehlers-Danlos syndrome type IX; Ehlers-Danlos syndrome type 9; EDS IX; X-linked cutis laxa [-]	A metal metabolism disorder characterized by hyper..[+] A metal metabolism disorder characterized by hyperelastic and bruisable skin, hernias, bladder diverticula, hyperextensible joints, varicosities, abnormal copper transport, and multiple skeletal abnormalities that has_material_basis_in X-linked recessive inheritance of mutations in ATP7A on Xq21.1. This disorder is allelic to Menkes disease. [-]
idiopathic generalized epilepsy 10	EIG10	An idiopathic generalized epilepsy that has_materi..[+] An idiopathic generalized epilepsy that has_material_basis_in variation in the GABRD on chromosome 1p36.33. [-]
idiopathic generalized epilepsy 14	EIG14	An idiopathic generalized epilepsy that has_materi..[+] An idiopathic generalized epilepsy that has_material_basis_in heterozygous mutation in the SLC12A5 on chromosome 20q13.12. [-]
idiopathic generalized epilepsy 2	EIG2	An idiopathic generalized epilepsy that has_materi..[+] An idiopathic generalized epilepsy that has_material_basis_in variation in a region on chromosome 14q23. [-]
idiopathic generalized epilepsy 8	EIG8	An idiopathic generalized epilepsy that has_materi..[+] An idiopathic generalized epilepsy that has_material_basis_in heterozygous mutation in the CASR on chromosome 3q13.3-q21.1. [-]
juvenile myoclonic epilepsy 3	EJM3	A juvenile myoclonic epilepsy that has_material_ba..[+] A juvenile myoclonic epilepsy that has_material_basis_in variation in a region on chromosome 6p21. [-]
progressive myoclonus epilepsy 10	EPM10; early-onset Lafora body disease	A progressive myoclonus epilepsy characterized by ..[+] A progressive myoclonus epilepsy characterized by onset of progressive myoclonus, ataxia, spasticity, dysarthria, and cognitive decline in the first decade of life that has_material_basis_in homozygous or compoud heterozygous mutation in the PRDM8 gene on chromosome 4q21.21. [-]
progressive myoclonus epilepsy 7	EPM7; MEAK; Myoclonus epilepsy and ataxia due to p.. [+] EPM7; MEAK; Myoclonus epilepsy and ataxia due to potassium channel mutation; PME type 7; Progressive myoclonic epilepsy due to KV3.1 deficiency; Progressive myoclonus epilepsy type 7 [-]	A progressive myoclonus epilepsy characterized by ..[+] A progressive myoclonus epilepsy characterized by onset of severe progressive myoclonus and infrequent tonic-clonic seizures in the first or second decades of life that has_material_basis_in heterozygous mutation in the KCNC1 gene on chromosome 11p15.1. [-]
progressive myoclonus epilepsy 1A	EPM1A	An Unverricht-Lundborg syndrome that has_material_..[+] An Unverricht-Lundborg syndrome that has_material_basis_in homozygous or compound heterozygous in the CSTB gene on chromosome 21q22.3. [-]
familial erythrocytosis 6	ECYT6; beta-globin type erythrocytosis; beta-globi.. [+] ECYT6; beta-globin type erythrocytosis; beta-globin type polycythemia [-]	A primary polycythemia characterized by high oxyge..[+] A primary polycythemia characterized by high oxygen affinity hemoglobin and compensatory polycythemia that has_material_basis_in heterozygous mutation in HBB on chromosome 11p15.4. [-]
Kohlschutter-Tonz syndrome	epilepsy-dementia-amelogenesis imperfecta syndrome.. [+] epilepsy-dementia-amelogenesis imperfecta syndrome; epilepsy dementia amelogenesis imperfecta; epilepsy and yellow teeth; amelocerebrohypohidrotic syndrome; Kohlschutter's syndrome; KTZS [-]	A syndrome characterized by severe global developm..[+] A syndrome characterized by severe global developmental delay, early-onset intractable seizures, spasticity, and amelogenesis imperfecta that has_material_basis_in homozygous or compound heterozygous mutation in ROGDI on chromosome 16p13.3. [-]
X-linked cardiac valvular dysplasia	EDS 5; Ehlers-Danlos syndrome, type 5; CVD1; Dystr.. [+] Ehlers-Danlos syndrome, type 5; EDS 5; CVD1; Dystrophie valvulaire associee a FLNA; Filamin A-related X-linked myxomatous valvular dysplasia; FLNA-related valvular dystrophy; FLNA-related X-linked myxomatous valvular dysplasia; XMVD [-]	A heart valve disease characterized by multivalvul..[+] A heart valve disease characterized by multivalvular dysplasia and regurgitation with more severe phenotypes in hemizygous males compared to heterozygous females that has_material_basis_in mutation in the FLNA gene on chromosome Xq28. [-]
developmental and epileptic encephalopathy 70	early infantile epileptic encephalopathy 70; DEE70.. [+] early infantile epileptic encephalopathy 70; DEE70 [-]	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 73	early infantile epileptic encephalopathy 73; DEE73.. [+] early infantile epileptic encephalopathy 73; DEE73 [-]	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 79	early infantile epileptic encephalopathy 79; DEE79.. [+] early infantile epileptic encephalopathy 79; DEE79 [-]	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 81	early infantile epileptic encephalopathy 81; DEE81.. [+] early infantile epileptic encephalopathy 81; DEE81 [-]	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 88	early infantile epileptic encephalopathy 88; DEE88.. [+] early infantile epileptic encephalopathy 88; DEE88 [-]	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. [-]
hereditary spastic paraplegia 79B	early-onset progressive neurodegeneration-blindnes.. [+] early-onset progressive neurodegeneration-blindness-ataxia-spasticity syndrome; autosomal recessive spastic paraplegia 79B; spastic paraplegia 79 autosomal recessive; SPG79B [-]	A hereditary spastic paraplegia characterized by o..[+] A hereditary spastic paraplegia characterized by onset of spastic paraplegia and optic atrophy in the first decade of life that has_material_basis_in homozygous or compound heterozygous mutation in the UCHL1 gene on chromosome 4p13. [-]

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