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Disease	Synonyms	Description	Articles
maturity-onset diabetes of the young type 8	diabetes and pancreatic exocrine; maturity-onset d.. [+] diabetes and pancreatic exocrine; maturity-onset diabetes of the young type 8 with exocrine dysfunction; MODY type 8; MODY8 [-]	A maturity-onset diabetes of the young that has_ma..[+] A maturity-onset diabetes of the young that has_material_basis_in frameshift deletions in the variable number of tandem repeats of the CEL gene om chromosome 9q34.13. [-]
partial trisomy distal 4q	Duplication 4q Syndrome, Partial; Dup(4q) Syndrome.. [+] Duplication 4q Syndrome, Partial; Dup(4q) Syndrome, Partial; Distal 4q Trisomy; Chromosome 4, Partial Trisomy 4q (4q2 and 4q3, included); Chromosome 4, Partial Trisomy 4q (4q21-qter to 4q32-qter, included); Partial Trisomy 4q Syndrome [-]	A chromosomal duplication syndrome characterized b..[+] A chromosomal duplication syndrome characterized by growth deficiency, abnormal muscle tone, intellectual disability, and distinctive craniofacial malformations that has_material_basis_in duplication of the distal portion of chromosome 4q. [-]
sepiapterin reductase deficiency	dopa-responsive dystonia due to sepiapterin reduct.. [+] dopa-responsive dystonia due to sepiapterin reductase deficiency; DRD due to SRD; SPR deficiency; SRD [-]	A dystonia characterized by sustained muscle contr..[+] A dystonia characterized by sustained muscle contractions with diurnal fluctuations, axial hypotonia, oculogyric crises, delays in motor and cognitive development and severe dopamine and serotonin deficiencies that has_material_basis_in mutation in the SPR gene on chromosome 2p resulting in sepiapterin reductase deficiency. [-]
subcortical band heterotopia	double cortex syndrome; band heterotopia; HeCo; he.. [+] double cortex syndrome; band heterotopia; HeCo; heterotopic cortex; subcortical laminar heterotopia [-]	A congenital nervous system abnormality characteri..[+] A congenital nervous system abnormality characterized by migration of neurons to ectopic locations in the brain where the neurons form areas that appear as band-like clusters of white tissue underneath the gray tissue of the cerebral cortex. [-]
X-linked distal spinal muscular atrophy 3	DSMAX; ATP7A-related distal motor neuropathy; SMAX.. [+] DSMAX; ATP7A-related distal motor neuropathy; SMAX3; X-linked distal hereditary motor neuropathy type 3; X-linked dSMA3; X-linked dHMN3; X-linked recessive distal spinal muscular atrophy [-]	A spinal muscular atrophy characterized by slowly ..[+] A spinal muscular atrophy characterized by slowly progressive atrophy and weakness of distal muscles of hands and feet with absence of cognitive, pyramidal, or sensory impairment that has_material_basis_in homozygous or hemizygous mutation in ATP7A on Xq21.1. [-]
autosomal dominant distal hereditary motor neuronopathy 7	distal spinal muscular atrophy with vocal cord par.. [+] distal spinal muscular atrophy with vocal cord paralysis type 7A; distal hereditary motor neuropathy type VIIA; distal hereditary motor neuronopathy type 7; DHMN7A; distal spinal muscular atrophy with vocal cord paralysis; DHMNVPy; dHMN7; Harper-Young myopath; HMN VIIA; HMN7A [-]	An autosomal dominant distal hereditary motor neur..[+] An autosomal dominant distal hereditary motor neuronopathy that is characterized by slowly progressive distal atrophy and weakness affecting first the upper limbs and later the lower limbs and vocal cord paresis and that has_material_basis_in heterozygous mutation in the SLC5A7 gene on 2q12.3. [-]
autosomal dominant distal hereditary motor neuronopathy 1	distal hereditary motor neuronopathy type 1; dista.. [+] distal hereditary motor neuronopathy type 1; distal hereditary motor neuropathy type I; dHMN1; autosomal dominant distal juvenile spinal muscular atrophy type 1; HMN I; spinal Charcot-Marie-Tooth disease 1 [-]	An autosomal dominant distal hereditary motor neur..[+] An autosomal dominant distal hereditary motor neuronopathy that is characterized by progressive distal motor weakness and muscular atrophy of the peripheral nervous system without sensory impairment, that is caused by anterior horn cell degeneration and that has_material_basis_in heterozygous 1.35-Mb DNA insertion on chromosome 7q34-q36.2. This structural variant (SV) results in the production of a novel gene-intergenic fusion transcript, UBE3C-IF. [-]
autosomal dominant distal hereditary motor neuronopathy 14	distal spinal muscular atrophy with vocal cord par.. [+] distal spinal muscular atrophy with vocal cord paralysis type 7B; distal hereditary motor neuropathy type VIIB; distal hereditary motor neuronopathy type 7B; DHMN7B; Harper-Young myopathy; HMN VIIB; HMN7B [-]	An autosomal dominant distal hereditary motor neur..[+] An autosomal dominant distal hereditary motor neuronopathy that has_material_basis_in heterozygous mutation in the DCTN1 gene on 2p13.1. [-]
autosomal dominant distal hereditary motor neuronopathy 5	distal spinal muscular atrophy type VA; distal HMN.. [+] distal spinal muscular atrophy type VA; distal HMN VA; distal hereditary motor neuronopathy type 5A; distal hereditary motor neuronopathy type 5; DSMAV; distal spinal muscular atrophy with upper limb predominance; distal spinal muscular atrophy type V; distal HMN V; distal hereditary motor neuropathy type V; DHMN5; HMN5 [-]	An autosomal dominant distal hereditary motor neur..[+] An autosomal dominant distal hereditary motor neuronopathy that is characterized by onset of distal muscle weakness and atrophy predominantly affecting the upper limbs in the first few decades of life and that has_material_basis_in heterozygous mutation in the GARS gene on chromosome 7p14. [-]
autosomal dominant distal hereditary motor neuronopathy 12	distal spinal muscular atrophy type VB; distal HMN.. [+] distal spinal muscular atrophy type VB; distal HMN VB; distal hereditary motor neuronopathy type 5B [-]	An autosomal dominant distal hereditary motor neur..[+] An autosomal dominant distal hereditary motor neuronopathy that has_material_basis_in heterozygous mutation in the REEP1 gene on 2p11.2. [-]
autosomal dominant distal hereditary motor neuronopathy 2	distal hereditary motor neuropathy type IIA; dista.. [+] distal hereditary motor neuropathy type IIA; distal hereditary motor neuronopathy type 2A; distal hereditary motor neuronopathy type 2; distal hereditary motor neuropathy type II; HMN II; HMN2; autosomal dominant adult spinal muscular atrophy IIA; HMN IIA; HMN2A; spinal Charcot-Marie-Tooth disease IIA [-]	An autosomal dominant distal hereditary motor neur..[+] An autosomal dominant distal hereditary motor neuronopathy that is characterized by onset of slowly progressive distal limb weakness and atrophy between the second and fifth decades of life. [-]
autosomal dominant distal hereditary motor neuronopathy 3	distal hereditary motor neuronopathy type 2B; dist.. [+] distal hereditary motor neuronopathy type 2B; distal hereditary motor neuropathy type IIB; HMN IIB; HMN2B [-]	An autosomal dominant distal hereditary motor neur..[+] An autosomal dominant distal hereditary motor neuronopathy that has_material_basis_in heterozygous mutation in the gene encoding heat-shock 27-kD protein-1 (HSPB1) on chromosome 7q11.23. [-]
autosomal dominant distal hereditary motor neuronopathy 4	distal hereditary motor neuropathy type IIC; dista.. [+] distal hereditary motor neuropathy type IIC; distal hereditary motor neuronopathy type 2C; DHMN2C; HMN IIC; HMN2C [-]	A distal hereditary motor neuropathy that has_mate..[+] A distal hereditary motor neuropathy that has_material_basis_in heterozygous mutation in the HSPB3 gene on 5q11.2. [-]
autosomal dominant distal hereditary motor neuronopathy 6	distal spinal muscular atrophy with calf predomina.. [+] distal spinal muscular atrophy with calf predominance; distal hereditary motor neuropathy type IID; distal hereditary motor neuronopathy type 2D; HMN IID; HMN2D [-]	A distal hereditary motor neuropathy that has_mate..[+] A distal hereditary motor neuropathy that has_material_basis_in heterozygous mutation in the FBXO38 gene on 5q32. [-]
autosomal recessive distal hereditary motor neuronopathy 3	dSMA3; distal spinal muscular atrophy type 3; dist.. [+] distal spinal muscular atrophy type 3; dSMA3; distal hereditary motor neuropathy type 3 and type 4; dHMN3 and dHMN4; autosomal recessive distal spinal muscular atrophy type 3 [-]	An autosomal recessive distal hereditary motor neu..[+] An autosomal recessive distal hereditary motor neuronopathy characterized by juvenile onset of distal muscle weakness and wasting with variable severity that has_material_basis_in homozygous mutation in a 2.6-cM region of chromosome 11q13.3. [-]
autosomal dominant distal hereditary motor neuronopathy 9	distal hereditary motor neuropathy type IX; distal.. [+] distal hereditary motor neuropathy type IX; distal hereditary motor neuronopathy type 9; DHMN9; HMN9 [-]	An autosomal domiant distal hereditary motor neuro..[+] An autosomal domiant distal hereditary motor neuronopathy that is characterized by juvenile onset of slowly progressive distal muscle weakness and atrophy affecting both the lower and upper limbs that has_material_basis_in heterozygous mutation in the WARS gene on 14q32.2. [-]
autosomal recessive distal hereditary motor neuronopathy 4	DSMA4; distal spinal muscular atrophy type 4; auto.. [+] distal spinal muscular atrophy type 4; DSMA4; autosomal recessive distal spinal muscular atrophy type 4; autosomal recessive lower motor neuron disease with childhood onset [-]	An autosomal recessive distal hereditary motor neu..[+] An autosomal recessive distal hereditary motor neuronopathy characterized by onset in early childhood of rapidly progressing proximal muscle weakness with an early involvement of foot and hand muscles that has_material_basis_in homozygous or compound heterozygous mutation in PLEKHG5 on 1p36.31. [-]
autosomal recessive distal hereditary motor neuronopathy 5	DSMA5; distal spinal muscular atrophy type 5; auto.. [+] distal spinal muscular atrophy type 5; DSMA5; autosomal recessive distal spinal muscular atrophy type 5; young adult-onset dHMN; young adult-onset distal hereditary motor neuropathy [-]	An autosomal recessive distal hereditary motor neu..[+] An autosomal recessive distal hereditary motor neuronopathy characterized by young adult onset of slowly progressive distal muscle weakness and atrophy resulting in gait impairment and loss of reflexes that has_material_basis_in homozygous or compound heterozygous mutation in DNAJB2 on 2q35. [-]
autosomal dominant distal hereditary motor neuronopathy 8	distal hereditary motor neuropathy type VIII; dist.. [+] distal hereditary motor neuropathy type VIII; distal hereditary motor neuronopathy type 8; DHMN8; autosomal dominant benign distal spinal muscular atrophy; autosomal dominant congenital benign spinal muscular atrophy; congenital benign spinal muscular atrophy with contractures; congenital nonprogressive spinal muscular atrophy; HMN8 [-]	An autosomal dominant distal hereditary motor neur..[+] An autosomal dominant distal hereditary motor neuronopathy that is characterized by congenital, non-progressive, predominantly distal, lower limb muscle weakness and atrophy with variable serverity that has_material_basis_in heterozygous mutation in the TRPV4 gene on 12q24.11. [-]
speech-language disorder-1	developmental verbal dyspraxia; developmental apra.. [+] developmental verbal dyspraxia; developmental apraxia of speech; childhood apraxia of speech; speech and language disorder with orofacial dyspraxia; speech-language disorder type 1; articulatory apraxia; CAS [-]	A speech disorder characterized by severe orofacia..[+] A speech disorder characterized by severe orofacial dyspraxia resulting in largely incomprehensible speech that has_material_basis_in heterozygous mutation in FOXP2 on 7q31.1. [-]
primary failure of tooth eruption	dental noneruption; familial posterior openbite ma.. [+] dental noneruption; familial posterior openbite malocclusion; nonsyndromic primary failure of eruption; PFE; primary retention of teeth; unerupted second primary molar [-]	A tooth disease characterized by incomplete tooth ..[+] A tooth disease characterized by incomplete tooth eruption despite the presence of a clear eruption pathway that has_material_basis_in heterozygous mutation in the PTHR1 gene on chromosome 3p21.31. [-]
transient bullous dermolysis of the newborn	DEB-BDN; DEB, bullous dermolysis of the newborn	An epidermolysis bullosa dystrophica characterized..[+] An epidermolysis bullosa dystrophica characterized by generalized blistering at birth that usually regresses by 6 to 24 months of age that has_material_basis_in heterozygous, compound heterozygous or homozygous mutation in COL7A1 on chromosome 3p21.31. [-]
mucopolysaccharidosis Ih	Dysostosis multiplex syndrome; dysostosis multiple.. [+] Dysostosis multiplex syndrome; dysostosis multiplex; gargoylism; Hurler disease MPS type 1H; Hurler-Pfaundler syndrome; MPS1-H; Mucopolysaccharidosis type I severe form; L-iduronidase deficiency, Hurler type [-]	A mucopolysaccharidosis I characterized by a sever..[+] A mucopolysaccharidosis I characterized by a severe phenotype that includes dysostosis multiplex, cognitive impairment, heart disease, respiratory problems, corneal clouding, hepatosplenomegaly, coarse facies and reduced life expectancy that has_material_basis_in homozygous or compound heterozygous mutation in the IDUA gene on chromosome 4p16.3. [-]
Marshall syndrome	deafness, myopia, cataract, saddle nose-Marshall t.. [+] deafness, myopia, cataract, saddle nose-Marshall type; MRSHS [-]	An ectodermal dysplasia characterized by hypoplasi..[+] An ectodermal dysplasia characterized by hypoplasia of the maxilla, nasal bones, and frontal sinuses, as well as calvarial thickening, myopia, early-onset cataracts, and sensorineural hearing loss that has_material_basis_in heterozygous or homozygous mutation (most frequently affecting splice sites) in the COL11A1 gene on chromosome 1p21.1. Mutations, typically null, in the COL11A1 gene may also cause Stickler syndrome. [-]
autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 6	DNA2-related mitochondrial DNA deletion syndrome; .. [+] DNA2-related mitochondrial DNA deletion syndrome; autosomal dominant progressive external ophthalmoplegia 6; mitochondrial DNA deletion syndrome with limb-girdle weakness; mitochondrial DNA deletion syndrome with progressive myopathy; mtDNA deletion syndrome with limb-girdle weakness; mtDNA deletion syndrome with progressive myopathy; PEOA6 [-]	A chronic progressive external ophthalmoplegia cha..[+] A chronic progressive external ophthalmoplegia characterized by muscle weakness, mainly affecting the lower limbs, external ophthalmoplegia, exercise intolerance and mtDNA deletions that has_material_basis_in heterozygous mutation in the DNA2 gene on chromosome 10q21.3. [-]
Buschke-Ollendorff syndrome	dermatoosteopoikilosis; disseminated dermatofibros.. [+] dermatoosteopoikilosis; disseminated dermatofibrosis with osteopoikilosis; dermatofibrosis lenticularis disseminata with osteopoikilosis; BOS; osteopathia condensans disseminata [-]	A syndrome characterized by multiple subcutaneous ..[+] A syndrome characterized by multiple subcutaneous nevi or nodules and osteopoikilosis that has_material_basis_in heterozygous mutation in the LEMD3 gene on chromosome 12q14.3. [-]
spondylometaphyseal dysplasia Kozlowski type	dysmorphism arthrogryposis skeletal maturation adv.. [+] dysmorphism arthrogryposis skeletal maturation advanced; Jequier Kozlowski skeletal dysplasia; Jequier-Kozlowski syndrome; skeletal dysplasia Jequier-Kozlowski type; SMD Kozlowski type [-]	A spondylometaphyseal dysplasia characterized by v..[+] A spondylometaphyseal dysplasia characterized by vetebral platyspondyly and overfaced pedicles, scoliosis, and mild metaphyseal abnormalities in the pelvis that has_material_basis_in heterozygous mutation in the TRPV4 gene on chromosome 12q24.11. [-]
carboxypeptidase N deficiency	deficiency of carboxypeptidase B; anaphylotoxin in.. [+] deficiency of carboxypeptidase B; anaphylotoxin inactivator deficiency [-]	A plasma protein metabolism disease characterized ..[+] A plasma protein metabolism disease characterized by low levels of carboxypeptidase N in the serum that may result in episodic angioedema, chronic urticaria, asthma and/or allergic hypersensitivity that has_material_basis_in homozygous or compound heterozygous mutation in the CPN1 gene on chromosome 10q24.2. [-]
congenital contractural arachnodactyly	distal arthrogryposis type 9; arachnodactyly, cont.. [+] distal arthrogryposis type 9; arachnodactyly, contractural Beals type; CCA; contractures, multiple with arachnodactyly; Beals-Hecht syndrome; Beals syndrome; ear anomalies-contractures-dysplasia of bone with kyphoscoliosis [-]	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
combined D-2- and L-2-hydroxyglutaric aciduria	D,L-2-hydroxyglutaric aciduria; D,L-2-HGA; D,L-2-h.. [+] D,L-2-HGA; D,L-2-hydroxyglutaric aciduria; D,L-2-hydroxyglutaric acidemia; combined D,L-2-hydroxyglutaric aciduria; combined D-2-hydroxyglutaric aciduria and L-2-hydroxyglutaric aciduria; combined D-2-hydroxyglutaric acidemia and L-2-hydroxyglutaric acidemia [-]	A 2-hydroxyglutaric aciduria characterized by neon..[+] A 2-hydroxyglutaric aciduria characterized by neonatal-onset encephalopathy with severe hypotonia, intractable seizures, respiratory distress, and lack of psychomotor development resulting in early death that has_material_basis_in homozygous or compound heterozygous mutation in the SLC25A1 gene on chromosome 22q11.21. [-]
Temtamy syndrome	dysmorphism, corpus callosum agenesis and coloboma.. [+] dysmorphism, corpus callosum agenesis and colobomas; craniofacial dysmorphism with ocular coloboma absent corpus callosum and aortic dilatation; Temtamy-Shalash syndrome; craniofacial dysmorphism-coloboma-corpus callosum agenesis syndrome [-]	A syndrome characterized by variable craniofacial ..[+] A syndrome characterized by variable craniofacial dysmorphism, ocular coloboma, seizures, and brain abnormalities including partial or complete absence of the corpus callosum that has_material_basis_in [zygosity of] mutation in the C12ORF57 gene on chromosome 12p13.31. [-]
high myopia-sensorineural deafness syndrome	deafness and myopia syndrome; DFNMYP; deafness and.. [+] DFNMYP; deafness and myopia syndrome; deafness and myopia [-]	A syndrome characterized by severe myopia and mode..[+] A syndrome characterized by severe myopia and moderate to profound, bilateral, progressive sensorineural hearing loss that has_material_basis_in homozygous or compound heterozygous mutation in the SLITRK6 gene on chromosome 13q31.1. [-]
familial erythrocytosis 8	DPGM deficiency; diphosphoglycerate mutase deficie.. [+] DPGM deficiency; diphosphoglycerate mutase deficiency of erythrocyte; bisphosphoglycerate mutase deficiency; bisphosphoglyceromutase deficiency; BPGM deficiency; ECYT8; 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. [-]
congenital sucrase-isomaltase deficiency	disaccharide intolerance; congenital sucrase-isoma.. [+] disaccharide intolerance; congenital sucrase-isomaltose malabsorption; congenital sucrose intolerance; SI deficiency; CSID [-]	A carbohydrate metabolic disorder characterized by..[+] A carbohydrate metabolic disorder characterized by malabsorption of oligosaccharides and disaccharides that has_material_basis_in homozygous or compound heterozygous mutation in SI on chromosome 3q26.1. [-]
autosomal recessive nonsyndromic deafness 99	DFNB99; autosomal recessive deafness 99	An autosomal recessive nonsyndromic deafness chara..[+] An autosomal recessive nonsyndromic deafness characterized by prelingual, severe to profound sensorineural hearing loss without vestibular dysfunction that has_material_basis_in homozygous or compound heterozygous mutation in the TMEM132E gene on chromosome 17q12. [-]
autosomal recessive nonsyndromic deafness 57	DFNB57; autosomal recessive deafness 57	An autosomal recessive nonsyndromic deafness chara..[+] An autosomal recessive nonsyndromic deafness characterized by symmetric bilateral moderate to severe hearing loss that has_material_basis_in homozygous or compound heterozygous mutation in the PDZD7 gene on chromosome 10q24.31. [-]
autosomal recessive nonsyndromic deafness 113	DFNB113; autosomal recessive deafness 113	An autosomal recessive nonsyndromic deafness chara..[+] An autosomal recessive nonsyndromic deafness characterized by postlingual progressive hearing impairment that has_material_basis_in homozygous or compound heterozygous mutation in the CEACAM16 gene on chromosome 19q13. [-]
autosomal recessive nonsyndromic deafness 112	DFNB112; autosomal recessive deafness 112	An autosomal recessive nonsyndromic deafness chara..[+] An autosomal recessive nonsyndromic deafness characterized by postlingual progressive sensorineural hearing impairment that has_material_basis_in homozygous or compound heterozygous mutation in the BDP1 gene on chromosome 5q13.2. [-]
autosomal recessive nonsyndromic deafness 100	DFNB100; autosomal recessive deafness 100	An autosomal recessive nonsyndromic deafness chara..[+] An autosomal recessive nonsyndromic deafness characterized by prelingual onset of profound sensorineural deafness without vestibular involvement that has_material_basis_in homozygous or compound heterozygous mutation in the PPIP5K2 gene on chromosome 5q21.1. [-]
autosomal recessive nonsyndromic deafness 109	DFNB109; autosomal recessive deafness 109	An autosomal recessive nonsyndromic deafness chara..[+] An autosomal recessive nonsyndromic deafness characterized by bilateral congenital severe to profound sensorineural hearing loss and vestibular dysplasia without balance or movement issues that has_material_basis_in homozygous or compound heterozygous mutation in the ESRP1 gene on chromosome 8q22.1. [-]
autosomal recessive nonsyndromic deafness 111	DFNB111; autosomal recessive deafness 111	An autosomal recessive nonsyndromic deafness chara..[+] An autosomal recessive nonsyndromic deafness characterized by early-onset, moderate to severe sensorineural hearing loss with no vestibular involvement that has_material_basis_in homozygous or compound heterozygous mutation in the MPZL2 gene on chromosome 11q23.33. [-]
autosomal recessive nonsyndromic deafness 94	DFNB94; autosomal recessive deafness 94	An autosomal recessive nonsyndromic deafness chara..[+] An autosomal recessive nonsyndromic deafness characterized by prelingual profound sensorineural hearing loss that has_material_basis_in homozygous or compound heterozygous mutation in the NARS2 gene on chromosome 11q14.1. [-]
autosomal recessive nonsyndromic deafness 114	DFNB114; autosomal recessive deafness 114	An autosomal recessive nonsyndromic deafness chara..[+] An autosomal recessive nonsyndromic deafness characterized by congenital profound sensorineural hearing loss that has_material_basis_in homozygous or compound heterozygous mutation in the GRAP gene on chromosome 17p11.2. [-]
autosomal recessive nonsyndromic deafness 115	DFNB115; autosomal recessive deafness 115	An autosomal recessive nonsyndromic deafness chara..[+] An autosomal recessive nonsyndromic deafness characterized by onset in early childhood of severe sensorineural hearing impairment that has_material_basis_in homozygous or compound heterozygous mutation in the SPNS2 gene on chromosome 17p13.2. [-]
autosomal recessive nonsyndromic deafness 110	DFNB110; autosomal recessive deafness 110	An autosomal recessive nonsyndromic deafness chara..[+] An autosomal recessive nonsyndromic deafness characterized by prelingual, bilateral hearing loss that has_material_basis_in homozygous or compound heterozygous mutation in the COCH gene on chromosome 14q12. [-]
congenital lactase deficiency	disaccharide intolerance II; CLD; congenital alact.. [+] disaccharide intolerance II; CLD; congenital alactasia; congenital lactose intolerance; congenital lactose malabsorption; congenital alactasia syndrome [-]	A carbohydrate metabolic disorder characterized by..[+] A carbohydrate metabolic disorder characterized by watery diarrhea in infants fed with breast milk or other lactose-containing formulas that has_material_basis_in homozygous or compound heterozygous mutation in LCT on chromosome 2q21.3. [-]
enterokinase deficiency	deficiency of enteropeptidase; congenital enteroki.. [+] deficiency of enteropeptidase; congenital enterokinase deficiency; congenital enteropathy due to enteropeptidase deficiency [-]	An intestinal disease characterized by early-onset..[+] An intestinal disease characterized by early-onset failure to thrive, edema, hypoproteinemia, diarrhea and fat malabsorption that has_material_basis_in homozygous or compound heterozygous mutation in the TMPRSS15 gene on chromosome 21q21.1. [-]
primary hyperoxaluria type 2	D-glycerate dehydrogenase deficiency; oxalosis IIg.. [+] D-glycerate dehydrogenase deficiency; oxalosis IIglyoxylate reductase/hydroxypyruvate reductase deficiency; HP2; L-glyceric aciduria; glyoxylate reductase/hydroxypyruvate reductase deficiency; oxalosis II [-]	A primary hyperoxaluria characterized by elevated ..[+] A primary hyperoxaluria characterized by elevated urinary excretion of oxalate and L-glycerate, recurrent nephrolithiasis and nephrocalcinosis, and end-stage renal disease that has_material_basis_in homozygous or compound heterozygous mutation in the GRHPR gene on chromosome 9p13.2. [-]
chromosome 2q37 deletion syndrome	Del(2)(q37); deletion 2q37; 2q37 microdeletion syn.. [+] deletion 2q37; Del(2)(q37); 2q37 microdeletion syndrome; Albright hereditary osteodystrophy type 3; Albright hereditary osteodystrophy-like syndrome; BDMR; Brachydactyly-intellectual disability syndrome; monosomy 2q37qter; Albright's hereditary osteodystrophy-like syndrome [-]	A chromosomal deletion syndrome characterized by v..[+] A chromosomal deletion syndrome characterized by variable features, likely resulting from different sized deletions, including; brachydactyly type E, short stature, mild to moderate intellectual disability, behavioral abnormalities, and dysmorphic facial features that has_material_basis_in heterozygosity for a contiguous deletion of several genes on chromosome 2q37.2. [-]
Bothnian type palmoplantar keratoderma	diffuse palmoplantar keratoderma, Bothnian type; P.. [+] diffuse palmoplantar keratoderma, Bothnian type; PPKB [-]	A nonepidermolytic palmoplantar keratoderma charac..[+] A nonepidermolytic palmoplantar keratoderma characterized by a diffuse nonepidermolytic form of palmoplantar keratoderma where the affected areas take on a white, spongy appearance upon exposure to water that has_material_basis_in heterozygous mutation in the AQP5 gene on chromosome 12q13.12. [-]

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