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Disease	Synonyms	Description	Articles
developmental and epileptic encephalopathy 35	early infantile epileptic encephalopathy 35; DEE35.. [+] early infantile epileptic encephalopathy 35; DEE35; ITPA-related encephalopathy [-]	A developmental and epileptic encephalopathy chara..[+] A 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 has_material_basis_in homozygous or compound heterozygous mutation in the ITPA gene on chromosome 20p13. [-]
developmental and epileptic encephalopathy 12	early infantile epileptic encephalopathy 12; DEE12.. [+] early infantile epileptic encephalopathy 12; DEE12 [-]	A developmental and epileptic encephalopathy chara..[+] A 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 stagnation after seizure onset that has_material_basis_in homozygous or compound heterozygous mutation in the PLCB1 gene on chromosome 20p12.3. [-]
developmental and epileptic encephalopathy 34	early infantile epileptic encephalopathy 34; DEE34.. [+] early infantile epileptic encephalopathy 34; DEE34 [-]	A developmental and epileptic encephalopathy chara..[+] A developmental and epileptic encephalopathy characterized by infantile onset of refractory migrating focal seizures, developmental regression and severe global impairment that has_material_basis_in homozygous or compound heterozygous mutation in the SLC12A5 gene on chromosome 20q12. [-]
developmental and epileptic encephalopathy 26	early infantile epileptic encephalopathy 26; DEE26.. [+] early infantile epileptic encephalopathy 26; DEE26 [-]	A developmental and epileptic encephalopathy chara..[+] A 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 has_material_basis_in heterozygous mutation in the KCNB1 gene on chromosome 20q13. [-]
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. [-]
developmental and epileptic encephalopathy 53	early infantile epileptic encephalopathy 53; DEE53.. [+] early infantile epileptic encephalopathy 53; DEE53 [-]	A developmental and epileptic encephalopathy chara..[+] A developmental and epileptic encephalopathy characterized by infantile onset of intractable seizures, hypotonia, poor or absent global development, severe intellectual disability and spastic quadriplegia that has_material_basis_in homozygous or compound heterozygous mutation in the SYNJ1 gene on chromosome 21q22. [-]
developmental and epileptic encephalopathy 2	EIEE2; early infantile epileptic encephalopathy 2; .. [+] early infantile epileptic encephalopathy 2; EIEE2; DEE2; X-linked infantile spasm syndrome 2 [-]	A developmental and epileptic encephalopathy chara..[+] A 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 has_material_basis_in mutation in the CDKL5 gene on chromosome Xp22. [-]
developmental and epileptic encephalopathy 36	early infantile epileptic encephalopathy 36; conge.. [+] early infantile epileptic encephalopathy 36; congenital disorder of glycosylation, type Is [-]	A developmental and epileptic encephalopathy chara..[+] A 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 has_material_basis_in heterozygous mutation in the ALG13 gene on chromosome Xq23. [-]
developmental and epileptic encephalopathy 82	early infantile epileptic encephalopathy 82; DEE82.. [+] early infantile epileptic encephalopathy 82; DEE82 [-]	A developmental and epileptic encephalopathy chara..[+] A 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 has_material_basis_in homozygous or compound heterozygous mutation in the GOT2 gene on chromosome 16q21. [-]
round cell sarcoma with EWSR1-non-ETS fusion	Ewing-Like Sarcoma or Round Cell Sarcoma; Round Ce.. [+] Ewing-Like Sarcoma or Round Cell Sarcoma; Round Cell Sarcoma with EWSR1::non-ETS Fusion [-]	A small cell sarcoma that is characterized by the ..[+] A small cell sarcoma that is characterized by the presence of EWSR1 or FUS fusions involving partners unrelated to the ETS gene family. [-]
Huntington's 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; Huntington disease-like 1 [-]	A prion disease that is characterized by a phenoco..[+] A prion disease that is characterized by a phenocopy of Huntington disease (unwanted choreatic movements, behavioral and psychiatric disturbances and dementia) that has_material_basis_in autosomal dominant inheritance of 8 extra octapeptide repeats in the prion protein (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 type IG; amelogenesis imperfecta hypoplastic with nephrocalcinosis [-]	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; congenital merosin-positive muscular dystrophy with early spine rigidity; desmin-related myopathy with Mallory bodies; MDRS1; RSS; severe classic form minicore myopathy; severe classic form multicore myopathy; severe classic form multiminicore disease; classic multiminicore myopathy; desmin-related myopathy with Mallory body-like inclusions; RSMD1; classic multiminicore disease; rigid spine syndrome; SEPN1-related myopathy [-]	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 type Ic; congenital myasthenic syndrome Engel type [-]	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. [-]
myofibrillar myopathy 9	Edstrom myopathy; autosomal dominant distal myopat.. [+] Edstrom myopathy; autosomal dominant distal myopathy with early respiratory failure; Hereditary inclusion body myopathy with early respiratory failure; hereditary myopathy with early respiratory failure; HIBM-ERF; HMERF; MFM-titinopathy; MFM9; MPRM; myofibrillar myopathy 9 with early respiratory failure; Myofibrillar myopathy-titinopathy; proximal myopathy with early respiratory muscle involvement [-]	A myofibrillar myopathy characterized by adult ons..[+] A myofibrillar myopathy characterized by adult onset of slowly progressive muscle weakness involving the diaphragm and resulting in respiratory insufficiency that has_material_basis_in heterozygous mutation in the TTN gene on chromosome 2q31. [-]
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. [-]
Oliver-McFarlane syndrome	eyelashes long mental retardation; long eyelashes-.. [+] eyelashes long mental retardation; long eyelashes-intellectual disability syndrome; OMCS; trichomegaly-retina pigmentary degeneration-dwarfism syndrome [-]	A syndrome characterized by trichomegaly, severe c..[+] A syndrome characterized by trichomegaly, severe chorioretinal atrophy and multiple pituitary hormone deficiencies that has_material_basis_in homozygous or compound heterozygous mutation in PNPLA6 on 19p13.2. [-]
occipital horn syndrome	Ehlers-Danlos syndrome type 9; Ehlers-Danlos syndr.. [+] Ehlers-Danlos syndrome type 9; Ehlers-Danlos syndrome type IX; 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. [-]
combined saposin deficiency	encephalopathy due to prosaposin deficiency; combi.. [+] encephalopathy due to prosaposin deficiency; combined SAP deficiency; PSAPD [-]	A sphingolipidosis characterized by absence of exp..[+] A sphingolipidosis characterized by absence of expression of both isoforms of PSAP (SAP1 and SAP2) resulting in hepatosplenomegaly and severe neurological disease that has_material_basis_in homozygous or coumpound heterozygous mutation in PSAP on 10q22.1. [-]
isolated elevated serum creatine phosphokinase levels	elevated serum CPK; idiopathic hyperCKemia; isolat.. [+] elevated serum CPK; idiopathic hyperCKemia; isolated hyperCKemia [-]	An inherited metabolic disorder characterized by e..[+] An inherited metabolic disorder characterized by elevated serum creatine kinase levels in the absence of muscle weakness or other symptoms that has_material_basis_in in some cases in heterozygous mutation in the CAV3 gene on chromosome 3p25.3. [-]
multiple epiphyseal dysplasia with myopia and deafness	EDMMD; multiple epiphyseal dysplasia, Beighton typ.. [+] EDMMD; multiple epiphyseal dysplasia, Beighton type; multiple epiphyseal dysplasia-myopia-deafness syndrome [-]	A syndrome characterized by typically mild epiphys..[+] A syndrome characterized by typically mild epiphyseal dysplasia, progessive myopia, retinal thinning, crenated cataracts, conductive deafness and brachydactyly that has_material_basis_in heterozygous mutation in the COL2A1 gene on chromosome 12q13.11. [-]
progressive myoclonus epilepsy 4	EPM4; action myoclonus-renal failure syndrome; AMR.. [+] EPM4; action myoclonus-renal failure syndrome; AMRF; Myoclonus-nephropathy syndrome [-]	A progressive myoclonus epilepsy characterized by ..[+] A progressive myoclonus epilepsy characterized by progressive myoclonic epilepsy often associated with renal failure that has_material_basis_in homozygous or compound heterozygous of mutation in the SCARB2 gene on chromosome 4q21.1. [-]
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 3	EPM3; CLN14 disease; neuronal ceroid lipofuscinosi.. [+] EPM3; CLN14 disease; neuronal ceroid lipofuscinosis 14; PME type 3; Progressive myoclonic epilepsy due to KCTD7 deficiency; Progressive myoclonus epilepsy type 3 [-]	A progressive myoclonus epilepsy characterized by ..[+] A progressive myoclonus epilepsy characterized by onset of intractable myoclonic seizures before age 2 years and developmental regression that has_material_basis_in homozygous or compound heterozygous mutation in the KCTD7 gene on chromosome 7q11.21. [-]
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. [-]	1 articles
progressive myoclonus epilepsy 1B	EPM1B	An Unverricht-Lundborg syndrome that has_material_..[+] An Unverricht-Lundborg syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the PRICKLE1 gene on chromosome 12q12. [-]
progressive myoclonus epilepsy 6	EPM6; GOSR2-related progressive myoclonus ataxia; .. [+] EPM6; GOSR2-related progressive myoclonus ataxia; North Sea progressive myoclonus epilepsy; PME type 6; Progressive myoclonus epilepsy type 6 [-]	A progressive myoclonus epilepsy characterized by ..[+] A progressive myoclonus epilepsy characterized by onset of ataxia in the first years of life, followed by action myoclonus and seizures later in childhood, and loss of independent ambulation in the second decade that has_material_basis_in homozygous or compound heterozygous mutation in the GOSR2 gene on chromosome 17q21.32. [-]
progressive myoclonus epilepsy 9	EMP9; PME type 9; progressive myoclonic epilepsy d.. [+] EMP9; PME type 9; progressive myoclonic epilepsy due to LMNB2 deficiency; progressive myoclonus epilepsy type 9 [-]	A progressive myoclonus epilepsy characterized by ..[+] A progressive myoclonus epilepsy characterized by childhood-onset severe myoclonic and tonic-clonic seizures and early-onset ataxia that has_material_basis_in homozygous or compound heterozygous mutation in the LMNB2 gene on chromosome 19p13.3. [-]
progressive myoclonus epilepsy 8	EMP8; PME type 8; progressive myoclonic epilepsy d.. [+] EMP8; PME type 8; progressive myoclonic epilepsy due to CERS1 deficiency; progressive myoclonus epilepsy type 8 [-]	A progressive myoclonus epilepsy characterized by ..[+] A progressive myoclonus epilepsy characterized by childhood to adolescent-onset of action myoclonus, generalized tonic-clonic seizures, and slowly progressive, moderate to severe cognitive impairment that has_material_basis_in homozygous or compound heterozygous mutation in CERS1 on chromosome 19p13.11. [-]
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. [-]
galactose epimerase deficiency	epimerase deficiency galactosemia; galactosemia II.. [+] epimerase deficiency galactosemia; galactosemia III; GALE deficiency; GALE-D; UDP-galactose-4-epimerase deficiency; uridine diphosphate galactose-4-epimerase deficiency; galactosemia type 3 [-]	A galactosemia that has_material_basis_in homozygo..[+] A galactosemia that has_material_basis_in homozygous or compund heterozygous mutation in the GALE gene on chromosome 1p36.11. [-]
combined oxidative phosphorylation deficiency 1	early fatal progressive hepatoencephalopathy; COXP.. [+] early fatal progressive hepatoencephalopathy; COXPD1; hepatoencephalopathy due to combined oxidative phosphorylation defect type 1; hepatoencephalopathy due to COXPD1 [-]	A combined oxidative phosphorylation deficiency th..[+] A combined oxidative phosphorylation deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the GFM1 gene on chromosome 3q25.32. [-]
combined oxidative phosphorylation deficiency 3	encephalomyopathy, respiratory failure, and lactic.. [+] encephalomyopathy, respiratory failure, and lactic acidosis; concentric cardiomyopathy, hypotonia, and lactic acidosis; COXPD3; fatal mitochondrial disease due to combined oxidative phosphorylation defect type 3; Fatal mitochondrial disease due to COXPD3 [-]	A combined oxidative phosphorylation deficiency th..[+] A combined oxidative phosphorylation deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the TSFM gene on chromosome 12q14.1. [-]
progressive osseous heteroplasia	ectopic ossification familial type; familial ectop.. [+] ectopic ossification familial type; familial ectopic ossification; POH; osteoma cutis [-]	A syndrome characterized by infantile onset of der..[+] A syndrome characterized by infantile onset of dermal ossification followed by progressive bone formation in skeletal muscle and deep fascia that has_material_basis_in heterozygous loss of function mutation in the Gs-alpha isoform of the GNAS gene on chromosome 20q13.32. [-]
paramyotonia congenita of Von Eulenburg	Eulenburg disease; paralysis periodica paramyotoni.. [+] Eulenburg disease; paralysis periodica paramyotonica; paramyotonia congenita; PMC; Von Eulenburg paramyotonia congenita; myotonia congenita intermittens [-]	A neuromuscular disease characterized by onset in ..[+] A neuromuscular disease characterized by onset in infancy or early childhood of bouts of myotonia and muscle weakness that are increased by cold exposure that has_material_basis_in heterozygous mutation in the SCN4A gene on chromosome 17q23.3. [-]
Sturge-Weber syndrome	encephalotrigeminal angiomatosis; encephalofacial .. [+] encephalotrigeminal angiomatosis; encephalofacial angiomatosis; meningeal capillary angiomatosis; Sturge-Weber-Dimitri syndrome; Sturge-Weber-Krabbe syndrome; SWS; fourth phacomatosis; leptomeningeal angiomatosis; Sturge-Weber-Krabbe angiomatosis [-]	A vascular disease characterized by intracranial v..[+] A vascular disease characterized by intracranial vascular anomaly, leptomeningeal angiomatosis, facial cutaneous vascular malformations, and glaucoma that has_material_basis_in somatic mutation in the GNAQ gene on chromosome 9q21.2. [-]
congenital contractural arachnodactyly	ear anomalies-contractures-dysplasia of bone with .. [+] ear anomalies-contractures-dysplasia of bone with kyphoscoliosis; arachnodactyly, contractural Beals type; CCA; contractures, multiple with arachnodactyly; distal arthrogryposis type 9; Beals-Hecht syndrome; Beals syndrome [-]	A distal arthrogryposis characterized by contractu..[+] A distal arthrogryposis characterized by contractures, arachnodactyly, scoliosis, and crumpled ears that has_material_basis_in heterozygous mutation in the FBN2 gene on chromosome 5q23.3. [-]	1 articles
familial erythrocytosis 8	ECYT8; bisphosphoglycerate mutase deficiency; bisp.. [+] ECYT8; bisphosphoglycerate mutase deficiency; bisphosphoglyceromutase deficiency; BPGM deficiency; diphosphoglycerate mutase deficiency of erythrocyte; DPGM deficiency; hemolytic anemia due to diphosphoglycerate mutase deficiency [-]	A primary polycythemia characterized by erythrocyt..[+] A primary polycythemia characterized by erythrocytosis and in some cases hemolytic anemia that has_material_basis_in homozygous or compound heterozygous mutation in the BPGM gene on chromosome 7q33. [-]
familial erythrocytosis 7	ECYT7; alpha-globin type polycythemia; alpha-globi.. [+] ECYT7; alpha-globin type polycythemia; alpha-globin type erythrocytosis [-]	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 either the HBA2 or HBA1 gene on chromosome 16p13.3. [-]
familial erythrocytosis 6	ECYT6; beta-globin type polycythemia; beta-globin .. [+] ECYT6; beta-globin type polycythemia; beta-globin type erythrocytosis [-]	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. [-]
Rolandic epilepsy-paroxysmal exercise-induced dystonia-writer's cramp syndrome	EPRPDC; RE-PED-WC; Rolandic-type focal motor epile.. [+] EPRPDC; RE-PED-WC; Rolandic-type focal motor epilepsy and exercise-induced dystonia; Rolandic epilepsy with paroxysmal exercise-induced dystonia and writer's cramp [-]	An infancy electroclinical syndrome characterized ..[+] An infancy electroclinical syndrome characterized by onset of focal seizures in infancy and exercise-induced dystonia in childhood that has_material_basis_in homozygous or compound heterozygous mutation in the TBC1D24 gene on chromosome 16p13.3. [-]
Schopf-Schulz-Passarge syndrome	eccrine tumors-ectodermal dysplasia; keratosis pal.. [+] eccrine tumors-ectodermal dysplasia; keratosis palmoplantaris-cystic eyelids-hypodontia-hypotrichosis syndrome; palmoplantar hyperkeratosis-cystic eyelids-hypodontia-hypotrichosis syndrome; SSPS; palmoplantar keratoderma-cystic eyelids-hypodontia-hypotrichosis syndrome [-]	An ectodermal dysplasia characterized by multiple ..[+] An ectodermal dysplasia characterized by multiple eyelid apocrine hidrocystomas, palmoplantar keratoderma, hypotrichosis, hypodontia and nail dystrophy that has_material_basis_in homozygous or compound heterozygous mutation in the WNT10A gene on chromosome 2q35. [-]
proliferative vasculopathy and hydranencephaly-hydrocephaly syndrome	encephaloclastic proliferative vasculopathy; EPV; .. [+] EPV; encephaloclastic proliferative vasculopathy; cerebral proliferative glomeruloid vasculopathy; Fowler syndrome; Fowler vasculopathy; hydrocephaly/hydranencephaly due to cerebral vasculopathy; proliferative vasculopathy and hydranencephaly/hydrocephaly; PVHH; hydranencephaly, Fowler type [-]	A syndrome characterized by hydranencephaly, glome..[+] A syndrome characterized by hydranencephaly, glomeruloid vasculopathy of the central nervous system and retinal vessels, diffuse clastic ischemic lesions of the brain stem, basal ganglia, and spinal cord with calcifications, and fetal akinesia with arthrogryposis that has_material_basis_in homozygous or compound heterozygous mutation in the FLVCR2 gene on chromosome 14q24.3. [-]
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. [-]

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