Disease Name Gene Symbol Disease Name Aliases Disease Type UniProt ID Disease IDs ALG1-CDG ALG1 "[""CDG-Ik"",""Congenital disorder of glycosylation, type Ik""]" Congenital Disorders of Glycosylation (CDGs) Q9BT22 "[""C535749"",""MONDO:0012052""]" ALG11-CDG ALG11 "[""CDG-Ip"",""Congenital Disorder of Glycosylation, Type Ip""]" Congenital Disorders of Glycosylation (CDGs) Q2TAA5 ALG12-CDG ALG12 "[""CDG-Ig"",""Congenital disorder of glycosylation, type Ig""]" Congenital Disorders of Glycosylation (CDGs) Q9BV10 "[""C535745"",""MONDO:0011783""]" ALG13-CDG ALG13 "[""CDG-Is"",""Congenital Disorder of Glycosylation, Type Is""]" Congenital Disorders of Glycosylation (CDGs) Q9NP73 ALG2-CDG ALG2 "[""CDG-Ii"",""Congenital disorder of glycosylation, type Ii""]" Congenital Disorders of Glycosylation (CDGs) Q9H553 "[""C535747"",""MONDO:0005501""]" ALG3-CDG ALG3 "[""CDG-Id"",""Congenital disorder of glycosylation, type Id""]" Congenital Disorders of Glycosylation (CDGs) Q92685 "[""C535742"",""MONDO:0010998""]" ALG6-CDG ALG6 "[""CDG-Ic"",""Congenital disorder of glycosylation, type Ic""]" Congenital Disorders of Glycosylation (CDGs) Q9Y672 "[""C535741"",""MONDO:0011291""]" ALG8-CDG ALG8 "[""CDG-Ih"",""Congenital disorder of glycosylation, type Ih""]" Congenital Disorders of Glycosylation (CDGs) Q9BVK2 "[""C535746"",""MONDO:0011969""]" ALG9-CDG ALG9 "[""CDG-IL"",""Congenital disorder of glycosylation, type IL""]" Congenital Disorders of Glycosylation (CDGs) Q9H6U8 "[""C535750"",""MONDO:0012117""]" ATP6VOA2-CDG ATP6V0A2 "[""ATP6VOA2 defect (cutis laxa type II)"",""Cutis laxa, autosomal recessive, type IIA (ARCL2A)"",""Debre-Type cutis laxa"",""V-ATPase a2 subunit defect""]" Congenital Disorders of Glycosylation (CDGs) Q9Y487 "[""C562632""]" Achondrogenesis type IB SLC26A2 "[""ACG1B"",""Achondrogenesis, Fraccaro type""]" Congenital Disorders of Glycosylation (CDGs) P50443 "[""C536016""]" Alpha-mannosidosis MAN2B1 "[""Alpha-mannosidase B deficiency""]" Lysosomal Storage Diseases (LSDs) O00754 "[""D008363"",""DOID:3413"",""MONDO:0009561""]" Alpha-mannosidosis, type I (early-onset) MAN2B1 Lysosomal Storage Diseases (LSDs) O00754 "[""D008363"",""DOID:3413"",""MONDO:0009561""]" Alpha-mannosidosis, type II (later-onset) MAN2B1 Lysosomal Storage Diseases (LSDs) O00754 "[""D008363"",""DOID:3413"",""MONDO:0009561""]" Aspartylglucosaminuria AGA Lysosomal Storage Diseases (LSDs) P20933 Autosomal recessive multiple epiphyseal dysplasia SLC26A2 "[""Epiphyseal dysplasia, multiple, 4 (EDM4)""]" Congenital Disorders of Glycosylation (CDGs) P50443 "[""C535504"",""DOID:0070300"",""MONDO:0009189""]" B3GALTL-CDG B3GALTL "[""Krause-Kivlin syndrome"",""Peters anomaly with short limb dwarfism"",""Peters-plus syndrome""]" Congenital Disorders of Glycosylation (CDGs) Q6Y288 "[""C537617""]" B4GALT1-CDG B4GALT1 "[""CDG-IId"",""Congenital disorder of glycosylation, type IId""]" Congenital Disorders of Glycosylation (CDGs) P15291 "[""C564625""]" B4GALT7-CDG B4GALT7 "[""Ehlers-Danlos syndrome, progeroid form"",""Ehlers-Danlos syndrome, progeroid type, 1"",""Galactosyltransferase 1 deficiency""]" Congenital Disorders of Glycosylation (CDGs) Q9UBV7 "[""C536201"",""DOID:0050802"",""MONDO:0007526""]" Beta-mannosidosis MANBA "[""Beta-mannosidase deficiency""]" Lysosomal Storage Diseases (LSDs) O00462 "[""C538599""]" Bruck syndrome 2 PLOD2 "[""BRKS2"",""Osteogenesis imperfecta with congenital joint contractures""]" Congenital Disorders of Glycosylation (CDGs) O00469 "[""C537407""]" COG1-CDG COG1 "[""CDG-IIg"",""CDGII/COG1 Cerebrocostomandibular-like syndrome"",""COG1 deficiency"",""Congenital disorder of glycosylation, type IIg""]" Congenital Disorders of Glycosylation (CDGs) Q8WTW3 "[""C535756"",""MONDO:0012637""]" COG4-CDG COG4 "[""CDG-IIj"",""Congenital disorder of glycosylation, type IIj""]" Congenital Disorders of Glycosylation (CDGs) Q9H9E3 COG5-CDG COG5 "[""CDG-IIi"",""Congenital disorder of glycosylation, type IIi""]" Congenital Disorders of Glycosylation (CDGs) Q9UP83 COG6-CDG COG6 "[""CDG-IIL"",""Congenital Disorder of Glycosylation, Type IIL""]" Congenital Disorders of Glycosylation (CDGs) Q9Y2V7 COG7-CDG COG7 "[""CDG-IIe"",""Congenital disorder of glycosylation, type IIe""]" Congenital Disorders of Glycosylation (CDGs) P83436 "[""C535754"",""MONDO:0012118""]" COG8-CDG COG8 "[""CDG-IIh"",""COG8 deficiency"",""Congenital disorder of glycosylation, type IIh""]" Congenital Disorders of Glycosylation (CDGs) Q96MW5 "[""C566987"",""MONDO:0012635""]" Cardiomyopathy, dilated, 1X FKTN "[""Cardiomyopathy, dilated, 1X (CMD1X)"",""Dilated cardiomyopathy with mild or no proximal muscle weakness"",""FKTN-CDG (cong. muscular dystrophy spectrum)""]" Congenital Disorders of Glycosylation (CDGs) O75072 "[""C566907"",""MONDO:0012704""]" Combined saposin deficiency PSAP "[""prosaposin deficiency"",""saposin deficiency""]" Lysosomal Storage Diseases (LSDs) P07602 "[""C567125""]" DDOST-CDG DDOST "[""CDG-Ir"",""Congenital Disorder of Glycosylation, Type Ir""]" Congenital Disorders of Glycosylation (CDGs) P39656 DOLK-CDG TMEM15 "[""CDG-Im"",""Congenital disorder of glycosylation, type Im"",""DK1 deficiency"",""DK1-CDG"",""Dolichol kinase deficiency""]" Congenital Disorders of Glycosylation (CDGs) Q9UPQ8 "[""C563666"",""MONDO:0012556""]" DPAGT1-CDG DPAGT1 "[""CDG-Ij"",""Congenital disorder of glycosylation, type Ij""]" Congenital Disorders of Glycosylation (CDGs) Q9H3H5 "[""C535748"",""MONDO:0011964""]" DPM1-CDG DPM1 "[""CDG-Ie"",""Congenital disorder of glycosylation, type Ie""]" Congenital Disorders of Glycosylation (CDGs) O60762 "[""C535743"",""MONDO:0012123""]" DPM3-CDG DPM3 "[""CDG-Io"",""Congenital Disorder of Glycosylation, Type Io""]" Congenital Disorders of Glycosylation (CDGs) Q9P2X0 "[""C567857"",""MONDO:0013049""]" Diastrophic dysplasia SLC26A2 "[""Diastrophic dwarfism""]" Congenital Disorders of Glycosylation (CDGs) P50443 "[""C536170"",""DOID:14687"",""MONDO:0009107""]" Duchenne muscular dystrophy DMD "[""DMD"",""Muscular dystrophy, pseudohypertrophic progressive, Duchenne type""]" Congenital Disorders of Glycosylation (CDGs) P11532 "[""D020388"",""DOID:11723"",""MONDO:0010679""]" EXT1/EXT2-CDG EXT1,EXT2 "[""Exostoses, multiple, type 1"",""Exostoses, multiple, type 2"",""Hereditary multiple exostoses (HME)"",""Hereditary multiple osteochondromas (HMO)"",""Multiple cartilaginous exostoses""]" Congenital Disorders of Glycosylation (CDGs) "[""C538356"",""D005097"",""DOID:206"",""MONDO:0005508"",""MONDO:0011022""]" Ehlers-Danlos syndrome, musculocontractural type CHST14 "[""Adducted thumb and clubfoot syndrome""]" Congenital Disorders of Glycosylation (CDGs) Q8NCH0 "[""C538226""]" Ehlers-Danlos syndrome, type VI PLOD1 "[""Ehlers-Danlos syndrome, kyphoscoliotic type"",""Nevo syndrome""]" Congenital Disorders of Glycosylation (CDGs) Q02809 "[""C536198"",""DOID:14775""]" Fabry disease GLA "[""Alpha-galactosidase A deficiency""]" Lysosomal Storage Diseases (LSDs) P06280 "[""D000795"",""DOID:14499"",""MONDO:0010526""]" Farber Lipogranulomatosis ASAH1 "[""Acid Ceramidase Deficiency""]" Lysosomal Storage Diseases (LSDs) Q13510 "[""D055577"",""DOID:0050464"",""MONDO:0009218""]" Farber Lipogranulomatosis, type 1 ASAH1 Lysosomal Storage Diseases (LSDs) Q13510 "[""D055577"",""DOID:0050464"",""MONDO:0009218""]" Farber Lipogranulomatosis, type 2 ASAH1 Lysosomal Storage Diseases (LSDs) Q13510 "[""D055577"",""DOID:0050464"",""MONDO:0009218""]" Farber Lipogranulomatosis, type 3 ASAH1 Lysosomal Storage Diseases (LSDs) Q13510 "[""D055577"",""DOID:0050464"",""MONDO:0009218""]" Farber Lipogranulomatosis, type 4 ASAH1 Lysosomal Storage Diseases (LSDs) Q13510 "[""D055577"",""DOID:0050464"",""MONDO:0009218""]" Farber Lipogranulomatosis, type 5 ASAH1 Lysosomal Storage Diseases (LSDs) Q13510 "[""D055577"",""DOID:0050464"",""MONDO:0009218""]" Fucosidosis FUCA1 Lysosomal Storage Diseases (LSDs) P04066 "[""D005645"",""DOID:14500"",""MONDO:0009254""]" Fukuyama congenital muscular dystrophy FKTN "[""FKTN-CDG (cong. muscular dystrophy spectrum)"",""Fukuyama congenital muscular dystrophy (FCMD)"",""Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4 (MDDGA4)""]" Congenital Disorders of Glycosylation (CDGs) O75072 "[""D058494"",""DOID:0050560"",""MONDO:0019523""]" GALNT3-CDG GALNT3 "[""Tumoral calcinosis, hyperphosphatemic, familial""]" Congenital Disorders of Glycosylation (CDGs) Q14435 "[""C566870""]" GCS1-CDG GCS1 "[""CDG-IIb"",""Congenital disorder of glycosylation, type IIb"",""MOGS-CDG""]" Congenital Disorders of Glycosylation (CDGs) Q13724 "[""C565264"",""MONDO:0011629""]" GM1-gangliosidosis, type I GLB1 "[""infantile form""]" Lysosomal Storage Diseases (LSDs) P16278 "[""D016537"",""DOID:3322"",""MONDO:0018149""]" GM1-gangliosidosis, type II GLB1 "[""Derry syndrome"",""juvenile form""]" Lysosomal Storage Diseases (LSDs) P16278 "[""D016537"",""DOID:3322"",""MONDO:0018149""]" GM1-gangliosidosis, type III GLB1 "[""adult form""]" Lysosomal Storage Diseases (LSDs) P16278 "[""D016537"",""DOID:3322"",""MONDO:0018149""]" GM2-gangliosidosis, AB variant GM2A "[""GM2 activator deficiency"",""Tay-Sachs disease, AB variant""]" Lysosomal Storage Diseases (LSDs) P17900 "[""D049290"",""DOID:4795"",""MONDO:0010099""]" Galactosialidosis CTSA "[""Combined deficiency of sialidase AND beta galactosidase""]" Lysosomal Storage Diseases (LSDs) P10619 "[""C536411"",""MONDO:0009737""]" Gaucher disease, atypical, due to saposin C deficiency PSAP Lysosomal Storage Diseases (LSDs) P07602 "[""C566435"",""MONDO:0012517""]" Gaucher disease, type I GBA "[""non-neuronopathic form""]" Lysosomal Storage Diseases (LSDs) P04062 "[""D005776"",""DOID:1926"",""MONDO:0018150""]" Gaucher disease, type II GBA Lysosomal Storage Diseases (LSDs) P04062 "[""C564306"",""D005776"",""DOID:1926"",""MONDO:0011945"",""MONDO:0018150""]" Gaucher disease, type II, neuronopathic form, classic type GBA Lysosomal Storage Diseases (LSDs) P04062 "[""D005776"",""DOID:1926"",""MONDO:0018150""]" Gaucher disease, type II, perinatal lethal form GBA Lysosomal Storage Diseases (LSDs) P04062 "[""C564306"",""MONDO:0011945""]" Gaucher disease, type III GBA "[""neuronopathic form""]" Lysosomal Storage Diseases (LSDs) P04062 "[""D005776"",""DOID:1926"",""MONDO:0018150""]" Gaucher disease, type IIIC GBA "[""neuronopathic form, cardiovascular form""]" Lysosomal Storage Diseases (LSDs) P04062 "[""C565553""]" Hereditary inclusion body myopathy type 2 GNE "[""GNE-CDG (hereditary inclusion body myopathy)"",""Hereditary inclusion body myopathy type 2 (HIBM2)"",""Inclusion body myopathy 2, autosomal recessive (IBM2)""]" Congenital Disorders of Glycosylation (CDGs) Q9Y223 "[""C538329""]" Hurler syndrome IDUA "[""Gargoylism, Hurler syndrome"",""MPS1-H"",""Mucopolysaccharidosis type IH"",""Pfaundler-Hurler syndrome""]" Lysosomal Storage Diseases (LSDs) P35475 "[""D008059"",""DOID:12802""]" Hurler-Scheie syndrome IDUA "[""MPS1-HS"",""Mucopolysaccharidosis type IH/S""]" Lysosomal Storage Diseases (LSDs) P35475 "[""D008059"",""DOID:12802""]" Hyperphosphatasia with mental retardation syndrome 1 PIGV "[""HPMRS1""]" Congenital Disorders of Glycosylation (CDGs) Q9NUD9 Krabbe disease GALC "[""Galactosylceramide beta-galactosidase deficiency"",""Globoid cell leukodystrophy"",""Krabbe leukodystrophy"",""Leukodystrophy, globoid cell""]" Lysosomal Storage Diseases (LSDs) P54803 "[""D007965"",""DOID:10587"",""MONDO:0009499""]" Krabbe disease, infantile form GALC Lysosomal Storage Diseases (LSDs) P54803 "[""D007965"",""DOID:10587"",""MONDO:0009499""]" Krabbe disease, late-onset form GALC Lysosomal Storage Diseases (LSDs) P54803 "[""D007965"",""DOID:10587"",""MONDO:0009499""]" LARGE-CDG (cong. muscular dystrophy spectrum) LARGE "[""Congenital muscular dystrophy type 1D (CMD1D)"",""Muscular dystrophy, congenital, type 1D (MDC1D)"",""Muscular dystrophy-dystroglycanopathy (Congenital with mental retardation), type B, 6 (MDDGB6)""]" Congenital Disorders of Glycosylation (CDGs) O95461 "[""C563844"",""MONDO:0012138""]" LFNG-CDG LFNG "[""SCDO3"",""Spondylocostal dysostosis 3, autosomal recessive""]" Congenital Disorders of Glycosylation (CDGs) Q8NES3 "[""C535781"",""MONDO:0010180""]" Lysyl hydroxylase 3 deficiency PLOD3 "[""Bone fragility with contractures, arterial rupture, and deafness"",""LH3 deficiency""]" Congenital Disorders of Glycosylation (CDGs) O60568 "[""C567320"",""MONDO:0012892""]" MGAT2-CDG MGAT2 "[""CDG-IIa"",""Congenital disorder of glycosylation, type IIa""]" Congenital Disorders of Glycosylation (CDGs) Q10469 "[""C535752"",""MONDO:0008908""]" MPDU1-CDG MPDU1 "[""CDG-If"",""Congenital disorder of glycosylation, type If""]" Congenital Disorders of Glycosylation (CDGs) O75352 "[""C535744"",""MONDO:0012211""]" MPI-CDG MPI "[""CDG-Ib"",""Congenital disorder of glycosylation, type Ib"",""Mannosephosphate isomerase deficiency"",""Protein-losing enteropathy-hepatic fibrosis syndrome"",""Saguenay-Lac Saint-Jean syndrome""]" Congenital Disorders of Glycosylation (CDGs) P34949 "[""C535740"",""MONDO:0011257""]" Macular corneal dystrophy CHST6 "[""Macular corneal dystrophy Type I"",""Macular corneal dystrophy Type II""]" Congenital Disorders of Glycosylation (CDGs) Q9GZX3 "[""C537834"",""C563270""]" Maroteaux-Lamy syndrome, intermediate form ARSB Lysosomal Storage Diseases (LSDs) P15848 Maroteaux-Lamy syndrome, mild form ARSB Lysosomal Storage Diseases (LSDs) P15848 Maroteaux-Lamy syndrome, severe form ARSB Lysosomal Storage Diseases (LSDs) P15848 Mental retardation, autosomal recessive 12 ST3GAL3 "[""MRT12""]" Congenital Disorders of Glycosylation (CDGs) Q11203 "[""C567019"",""MONDO:0012612""]" Mental retardation, autosomal recessive 15 MAN1B1 "[""MRT15""]" Congenital Disorders of Glycosylation (CDGs) Q9UKM7 Metachromatic leukodystrophy ARSA Lysosomal Storage Diseases (LSDs) P15289 "[""D007966"",""DOID:10581"",""MONDO:0018868""]" Metachromatic leukodystrophy, adult form ARSA Lysosomal Storage Diseases (LSDs) P15289 "[""D007966"",""DOID:10581"",""MONDO:0018868""]" Metachromatic leukodystrophy, due to saposin B deficiency PSAP "[""Sphingolipid activator protein 1 deficiency""]" Lysosomal Storage Diseases (LSDs) P07602 "[""C562609"",""MONDO:0009590""]" Metachromatic leukodystrophy, infantile form ARSA Lysosomal Storage Diseases (LSDs) P15289 "[""D007966"",""DOID:10581"",""MONDO:0018868""]" Metachromatic leukodystrophy, juvenile form ARSA Lysosomal Storage Diseases (LSDs) P15289 "[""D007966"",""DOID:10581"",""MONDO:0018868""]" Morquio syndrome A GALNS "[""Galactosamine-6-sulphatase deficiency"",""MPS IVA"",""Morquio's syndrome, classic form"",""Mucopolysaccharidosis type IVA""]" Lysosomal Storage Diseases (LSDs) P34059 "[""D009085"",""DOID:12804""]" Morquio syndrome B GLB1 "[""MPS IVB"",""Morquio-like syndrome"",""Mucopolysaccharidosis type IVB""]" Lysosomal Storage Diseases (LSDs) P16278 "[""D009085"",""DOID:12804""]" Mucolipidosis II (alpha/beta) GNPTAB "[""I-cell disease"",""ML-II"",""N-Acetylglucosamine-1-phosphotransferase deficiency""]" Lysosomal Storage Diseases (LSDs) Q3T906 "[""D009081"",""DOID:3343"",""MONDO:0019248""]" Mucolipidosis III (alpha/beta) GNPTAB "[""ML-III"",""Pseudo-Hurler Polydystrophy""]" Lysosomal Storage Diseases (LSDs) Q3T906 "[""D009081"",""DOID:3343"",""MONDO:0019248""]" Mucopolysaccharidosis II IDS "[""Hunter syndrome"",""MPS II""]" Lysosomal Storage Diseases (LSDs) P22304 "[""D016532"",""DOID:12799"",""MONDO:0010674""]" Mucopolysaccharidosis VI ARSB "[""MPS VI, Maroteaux-Lamy syndrome""]" Lysosomal Storage Diseases (LSDs) P15848 "[""D009087"",""DOID:12800"",""MONDO:0009661""]" Mucopolysaccharidosis VII GUSB "[""MPS VII"",""Sly syndrome""]" Lysosomal Storage Diseases (LSDs) P08236 "[""D016538"",""DOID:12803"",""MONDO:0009662""]" Multiple congenital anomalies-hypotonia-seizures syndrome 1 PIGN "[""MCAHS1""]" Congenital Disorders of Glycosylation (CDGs) O95427 Multiple joint dislocations, short stature, craniofacial dysmorphism, and congenital heart defects B3GAT3 Congenital Disorders of Glycosylation (CDGs) O94766 Multiple sulfatase deficiency SUMF1 "[""MSD"",""Multiple sulfatase deficiency disease""]" Lysosomal Storage Diseases (LSDs) Q8NBK3 "[""D052517"",""MONDO:0010088""]" Muscular dystrophy, congenital, type 1C FKRP "[""Congenital muscular dystrophy type 1C (CMD1C)"",""FKRP-CDG (cong. muscular dystrophy spectrum)"",""Muscular dystrophy, congenital, type 1C (MDC1C)"",""Muscular dystrophy-dystroglycanopathy (Congenital with or without mental retardation), type B, 5 (MDDGB5)""]" Congenital Disorders of Glycosylation (CDGs) Q9H9S5 "[""C564691"",""MONDO:0011688""]" Muscular dystrophy, limb-girdle, type 2I FKRP "[""FKRP-CDG (cong. muscular dystrophy spectrum)"",""Limb-girdle muscular dystrophy type 2I (LGMD2I)"",""Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 5 (MDDGC5)""]" Congenital Disorders of Glycosylation (CDGs) Q9H9S5 "[""C564612"",""MONDO:0011787""]" Muscular dystrophy, limb-girdle, type 2M FKTN "[""FKTN-CDG (cong. muscular dystrophy spectrum)"",""Limb-girdle muscular dystrophy type 2M (LGMD2M)"",""Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 4 (MDDGC4)""]" Congenital Disorders of Glycosylation (CDGs) O75072 "[""C566912"",""MONDO:0012699""]" Myasthenia, congenital, with tubular aggregates 1 GFPT1 "[""CMSTA1""]" Congenital Disorders of Glycosylation (CDGs) Q06210 Neonatal osseous dysplasia I SLC26A2 "[""Atelosteogenesis, type II (AOII)""]" Congenital Disorders of Glycosylation (CDGs) P50443 "[""C535395""]" Niemann-Pick disease, type A SMPD1 "[""neurological type""]" Lysosomal Storage Diseases (LSDs) P17405 "[""D052536"",""MONDO:0009756""]" Niemann-Pick disease, type B SMPD1 "[""non-neurological type""]" Lysosomal Storage Diseases (LSDs) P17405 "[""D052537"",""MONDO:0011871""]" Niemann-Pick disease, type C1 NPC1 "[""Niemann-Pick disease, type D, included""]" Lysosomal Storage Diseases (LSDs) O15118 "[""D052556"",""MONDO:0018982""]" Niemann-Pick disease, type C2 NPC2 Lysosomal Storage Diseases (LSDs) P61916 "[""C536119"",""MONDO:0011873""]" Nonaka myopathy GNE "[""Distal myopathy with rimmed vacuoles (DMRV)"",""Distal myopathy, Nonaka type"",""Nonaka myopathy (NM)""]" Congenital Disorders of Glycosylation (CDGs) Q9Y223 "[""C536816""]" PGM1-CDG PGM1 "[""CDG-It"",""Congenital Disorder of Glycosylation, Type It""]" Congenital Disorders of Glycosylation (CDGs) P36871 "[""C567859"",""MONDO:0013968""]" PIGM-CDG PIGM "[""Autosomal recessive GPI anchor deficiency"",""Glycosylphosphatidylinositol deficiency""]" Congenital Disorders of Glycosylation (CDGs) Q9H3S5 "[""C537277""]" PMM2-CDG PMM2 "[""CDG-Ia"",""Congenital disorder of glycosylation, type Ia"",""Jaeken syndrome"",""Phosphomannomutase 2 deficiency""]" Congenital Disorders of Glycosylation (CDGs) O15305 "[""C535739"",""MONDO:0008907""]" PMM2-CDG, adult stable disability stage PMM2 Congenital Disorders of Glycosylation (CDGs) O15305 "[""C535739"",""MONDO:0008907""]" PMM2-CDG, infantile multisystem stage PMM2 Congenital Disorders of Glycosylation (CDGs) O15305 "[""C535739"",""MONDO:0008907""]" PMM2-CDG, late-infantile and childhood ataxia-intellectual disability stage PMM2 Congenital Disorders of Glycosylation (CDGs) O15305 "[""C535739"",""MONDO:0008907""]" POMGNT1-CDG (cong. muscular dystrophy spectrum) POMGNT1 "[""Muscle-eye-brain disease (MEB)"",""Muscular dystrophy-dystroglycanopathy (Congenital with brain and eye anomalies), type A, 3 (MDDGA3)""]" Congenital Disorders of Glycosylation (CDGs) Q8WZA1 "[""D058494"",""DOID:0050560"",""MONDO:0019523""]" POMT1/POMT2-CDG (cong. muscular dystrophy spectrum) POMT1,POMT2 "[""Muscular dystrophy-dystroglycanopathy (Congenital with brain and eye anomalies), type A, 1 (MDDGA1)"",""Muscular dystrophy-dystroglycanopathy (Congenital with brain and eye anomalies), type A, 2 (MDDGA2)"",""Walker-Warburg syndrome (WWS)""]" Congenital Disorders of Glycosylation (CDGs) "[""D058494"",""DOID:0050560"",""MONDO:0019523""]" Paroxysmal nocturnal hemoglobinuria, somatic (SOMATIC MUTATION) PIGA "[""PNH1"",""Paroxysmal nocturnal hemoglobinuria 1""]" Congenital Disorders of Glycosylation (CDGs) P37287 "[""D006457""]" Pompe disease GAA "[""GSD type II"",""Lysosomal alpha 1,4 Glucosidase Deficiency Disease""]" Lysosomal Storage Diseases (LSDs) P10253 "[""D006009"",""DOID:2752""]" Pompe disease, infantile-onset form GAA Lysosomal Storage Diseases (LSDs) P10253 "[""D006009"",""DOID:2752""]" Pompe disease, late-onset form GAA Lysosomal Storage Diseases (LSDs) P10253 "[""D006009"",""DOID:2752""]" RFT1-CDG RFT1 "[""CDG-In"",""Congenital disorder of glycosylation, type In"",""RFT1 (flippase) deficiency""]" Congenital Disorders of Glycosylation (CDGs) Q96AA3 "[""C567437"",""MONDO:0012783""]" SEC23B-CDG SEC23B "[""CDA II"",""Congenital dyserythropoietic anaemia, type II"",""Hereditary Erythroblastic Multinuclearity with Positive Acidified-Serum Test (HEMPAS)""]" Congenital Disorders of Glycosylation (CDGs) Q15437 "[""D000742"",""DOID:1338"",""MONDO:0019403""]" SLC35A1-CDG SLC35A1 "[""CDG-IIf"",""Congenital disorder of glycosylation, type IIf""]" Congenital Disorders of Glycosylation (CDGs) P78382 "[""C567040"",""MONDO:0011342""]" SLC35C1-CDG SLC35C1 "[""CDG-IIc"",""Congenital disorder of glycosylation, type IIc"",""Leukocyte adhesion deficiency, type 2"",""Rambam Hasharon syndrome""]" Congenital Disorders of Glycosylation (CDGs) Q96A29 "[""C535755"",""MONDO:0009953""]" SLC35D1-CDG SLC35D1 "[""Chondrodysplasia, lethal neonatal, with snail-like pelvis"",""Schneckenbecken dysplasia""]" Congenital Disorders of Glycosylation (CDGs) Q9NTN3 "[""C536637"",""DOID:0050775"",""MONDO:0010013""]" SRD5A3-CDG SRD5A3 "[""CDG-Iq"",""Congenital Disorder of Glycosylation, Type Iq"",""Ocular colobomas, ichthyosis, brain malformations and endocrine abnormalities""]" Congenital Disorders of Glycosylation (CDGs) Q9H8P0 "[""C567328""]" ST3GAL5-CDG SIAT9 "[""Amish infantile epilepsy syndrome"",""Epilepsy syndrome, infantile-onset symptomatic"",""GM3 Synthase deficiency""]" Congenital Disorders of Glycosylation (CDGs) Q9UNP4 "[""C563799""]" Sandhoff disease HEXB "[""GM2-gangliosidosis, type II""]" Lysosomal Storage Diseases (LSDs) P07686 "[""D012497"",""DOID:3323"",""MONDO:0010006""]" Sandhoff disease, adult form HEXB Lysosomal Storage Diseases (LSDs) P07686 "[""D012497"",""DOID:3323"",""MONDO:0010006""]" Sandhoff disease, infantile form HEXB Lysosomal Storage Diseases (LSDs) P07686 "[""D012497"",""DOID:3323"",""MONDO:0010006""]" Sandhoff disease, juvenile form HEXB Lysosomal Storage Diseases (LSDs) P07686 "[""D012497"",""DOID:3323"",""MONDO:0010006""]" Sanfilippo syndrome A SGSH "[""MPS IIIA"",""Mucopolysaccharidosis type IIIA""]" Lysosomal Storage Diseases (LSDs) P51688 "[""D009084"",""DOID:12801""]" Sanfilippo syndrome B NAGLU "[""MPS IIIB"",""Mucopolysaccharidosis type IIIB""]" Lysosomal Storage Diseases (LSDs) P54802 Sanfilippo syndrome C HGSNAT "[""MPS IIIC"",""Mucopolysaccharidosis type IIIC""]" Lysosomal Storage Diseases (LSDs) Q68CP4 Sanfilippo syndrome D GNS "[""MPS IIID"",""Mucopolysaccharidosis type IIID""]" Lysosomal Storage Diseases (LSDs) P15586 "[""D009084"",""DOID:12801""]" Scheie syndrome IDUA "[""MPS1-S"",""Mucopolysaccharidosis type IS"",""Mucopolysaccharidosis type V"",""Scheie's syndrome""]" Lysosomal Storage Diseases (LSDs) P35475 "[""D008059"",""DOID:12802""]" Schindler disease, type I NAGA "[""infantile type""]" Lysosomal Storage Diseases (LSDs) P17050 "[""C536631""]" Schindler disease, type II NAGA "[""Kanzaki disease""]" Lysosomal Storage Diseases (LSDs) P17050 "[""C536631""]" Sialidosis NEU1 "[""Mucolipidosis I"",""Neuraminidase deficiency""]" Lysosomal Storage Diseases (LSDs) Q99519 "[""D009081"",""DOID:3343"",""MONDO:0019248""]" Sialidosis type I NEU1 "[""Cherry-red spot myoclonus syndrome"",""Normosomatic sialidosis""]" Lysosomal Storage Diseases (LSDs) Q99519 Sialidosis type II NEU1 "[""Dysmorphic sialidosis"",""Neuraminidase 1 deficiency""]" Lysosomal Storage Diseases (LSDs) Q99519 Sialidosis type II, congenital form NEU1 Lysosomal Storage Diseases (LSDs) Q99519 Sialidosis type II, infantile form NEU1 Lysosomal Storage Diseases (LSDs) Q99519 Sialidosis type II, juvenile form NEU1 Lysosomal Storage Diseases (LSDs) Q99519 Spondyloepimetaphyseal dysplasia, pakistani type PAPSS2 "[""Brachyolmia 4 with mild epiphyseal and metaphyseal changes"",""SEMD, pakistani type""]" Congenital Disorders of Glycosylation (CDGs) O95340 "[""C567551""]" Spondyloepiphyseal dysplasia with congenital joint dislocations CHST3 "[""Spondyloepiphyseal dysplasia, Omani type""]" Congenital Disorders of Glycosylation (CDGs) Q7LGC8 "[""C535789""]" TMEM165-CDG TMEM165 "[""CDG-IIk"",""Congenital Disorder of Glycosylation, Type IIk""]" Congenital Disorders of Glycosylation (CDGs) Q9HC07 TUSC3-CDG TUSC3 "[""Mental retardation, autosomal recessive 22"",""Mental retardation, autosomal recessive 7 (MRT7)"",""Oligosaccharyltransferase TUSC3 subunit defect""]" Congenital Disorders of Glycosylation (CDGs) Q13454 Tay-Sachs disease HEXA "[""GM2-Gangliosidosis, B variant"",""GM2-gangliosidosis, type I"",""Hexosaminidase A deficiency""]" Lysosomal Storage Diseases (LSDs) P06865 "[""D013661"",""DOID:3320"",""MONDO:0010100""]" Tay-Sachs disease, infantile form HEXA "[""Acute infantile""]" Lysosomal Storage Diseases (LSDs) P06865 "[""D013661"",""DOID:3320"",""MONDO:0010100""]" Tay-Sachs disease, late-onset forms HEXA "[""Juvenile/Chronic/Adult-onset""]" Lysosomal Storage Diseases (LSDs) P06865 "[""D013661"",""DOID:3320"",""MONDO:0010100""]" Temtamy preaxial brachydactyly syndrome CHSY1 "[""TPBS""]" Congenital Disorders of Glycosylation (CDGs) Q86X52 "[""C536958"",""MONDO:0011533""]" Tn polyagglutination syndrome, somatic (SOMATIC MUTATION) C1GALT1C1 "[""Galactosyltransferase Deficiency"",""Tn syndrome (SOMATIC MUTATION)""]" Congenital Disorders of Glycosylation (CDGs) Q96EU7 "[""C562719"",""MONDO:0010381""]" Wolman disease LIPA "[""Acid lipase deficiency"",""Lysosomal acid lipase deficiency""]" Lysosomal Storage Diseases (LSDs) P38571 "[""D015223"",""DOID:14497"",""MONDO:0019148""]"