SMPD1 - sphingomyelin phosphodiesterase 1 Gene

Niemann-Pick Disease Type B

Acid Sphingomyelinase Deficiency, Visceral Type

Asmd, Visceral Type

Niemann Pick Disease Type B

Chronic Visceral Acid Sphingomyelinase Deficiency

Chronic Visceral Asmd

Npd-B

Niemann-Pick Disease B

NPDB

Niemann-Pick Disease Adult Non-Neuronopathic Form

Niemann-Pick Disease Intermediate With Visceral Involvement And Rapid Progression

Niemann-Pick Disease Type E

Niemann-Pick Disease Type F

Niemann-Pick Disease Type I

Niemann-Pick Disease Visceral Form

Npb

Sphingomyelinase Deficiency

Sphingomyelin Lipidosis

Niemann-Picks Disease Type B

Niemann-Pick Disease, Type E

Niemann-Pick Diseases

Niemann-Pick Disease, Type A

Niemann-Pick Disease Type A

Sphingomyelin Lipidosis

Sphingomyelinase Deficiency

Niemann-Pick Disease, Intermediate, Protracted Neurovisceral

Acid Sphingomyelinase Deficiency, Neurovisceral Type

Asmd, Neurovisceral Type

Infantile Neurovisceral Acid Sphingomyelinase Deficiency

Infantile Neurovisceral Asmd

Npd-A

Niemann-Pick Disease A

NPDA

Classical Niemann-Pick Disease

Niemann-Pick Disease Acute Neuronopathic Form

Niemann-Pick Disease Acute Neurovisceral Form

Niemann-Pick Disease Classical Infantile Form

Niemann-Pick Disease Intermediate Protracted Neurovisceral

Niemann-Pick Disease Neuronopathic Type

Niemann-Pick Disease Type I

Npa

Niemann-Pick Diseases

Sphingomyelin/Cholesterol Lipidosis

Niemann-Pick Diseases

Lipoid Histiocytosis

Sphingomyelin Lipidosis

Sphingomyelinase Deficiency Disease

Lipid Histiocytosis

Neuronal Cholesterol Lipidosis

Neuronal Lipidosis

Npd

Sphingomyelinase Deficiency

Niemann-Pick Disease, Type A

Asmd

Niemann-Pick Diseases

Niemann-Pick Disease, Type A

Niemann-Pick Disease, Type C

NPC1

Niemann-Pick Disease, Type D

Niemann-Pick Disease Type C1

Niemann-Pick Disease With Cholesterol Esterification Block

Niemann-Pick Disease, Subacute Juvenile Form

Neurovisceral Storage Disease With Vertical Supranuclear Ophthalmoplegia

Npc

Niemann-Pick Disease, Chronic Neuronopathic Form

Niemann-Pick Disease Without Sphingomyelinase Deficiency

Niemann-Pick Disease Type C

Niemann-Pick Disease Type D

Niemann-Pick C1 Disease

Niemann-Pick Disease C1

Niemann-Pick Disease Chronic Neuronopathic Form

Niemann-Pick Disease Nova Scotian Type

Niemann-Pick Disease Subacute Juvenile Form

Niemann-Pick Disease Type Ii

Niemann-Picks Disease Type C

Neuronal Ceroid Lipofuscinosis 6

CLN6

Vlincl

Cln6 Disease

Ceroid Lipofuscinosis, Neuronal, 6

Late-Infantile Neuronal Ceroid Lipofuscinosis

CLN6A

Neuronal Ceroid Lipofuscinosis, Late Infantile, Variant

Neuronal Ceroid Lipofuscinosis 6a

Neuronal Ceroid Lipofuscinosis 6 Variable Age Of Onset

Cln6 Disease, Adult Kufs Type A

Cln6 Disease, Late Infantile

Neuronal Ceroid Lipofuscinosis, Gypsy/Indian Early Juvenile Variant

Ceroid Lipofuscinosis Neuronal 6

Cln6-Related Neuronal Ceroid Lipofuscinosis

Late Infantile Neuronal Ceroid Lipofuscinosis

Jansky-Bielschowsky Disease

Lincl

Late Infantile Ncl

Neuronal Ceroid Lipofuscinosis 6 With Variable Age At Onset

Variant Late-Onset Infantile Neuronal Ceroid Lipofuscinosis

Ceroid Lipofuscinosis, Neuronal, Late Infantile, Variant

Lipofuscinosis, Ceroid, Neuronal, Type 6

Ceroid Lipofuscinosis, Neuronal, 5

I-Cell Disease

Mucolipidosis Type Ii

Mucolipidosis Ii

Icd

Inclusion Cell Disease

Inclusion-Cell Disease

I Cell Disease

Mucolipidosis 2

MLII

Ml Ii

Ml Ii Alpha/Beta

Gnpta

Leroy Disease

Ml 2

Ml Disorder Type 2

N-Acetylglucosamine 1phosphotransferase Deficiency

Mucolipidosis Type Ii Alpha/Beta

N-Acetylglucosamine 1-Phosphotransferase Deficiency

Deficiency Of N-Acetylglucosamine-1-Phosphotransferase

Mucolipidosis, Type Ii, Alpha/Beta

Ml2

Type Ii Mucolipidosis

Lysosomal Storage Diseases

Disorder Of Lysosomal Enzyme

Inborn Lysosomal Enzyme Disorder

Lysosomal Storage Metabolism Disorder

Lysosomal Storage Disorder

Wiedemann-Beckwith Syndrome

BWS

Exomphalos-Macroglossia-Gigantism Syndrome

Emg Syndrome

Beckwith-Wiedemann Syndrome Due To Cdkn1c Mutation

Emg Abnormality

Wbs

Exomphalos Macroglossia Gigantism Syndrome

Beckwith-Wiedemann Syndrome Due To Nsd1 Mutation

Macroglossia Exomphalos Gigantism

Farber Disease

Acid Ceramidase Deficiency

Ceramidase Deficiency

Ac Deficiency

N-Laurylsphingosine Deacylase Deficiency

Farber'S Disease

FRBRL

Farber'S Lipogranulomatosis

Acylsphingosine Deacylase Deficiency

Farber-Uzman Syndrome

Acy

Gaucher Disease

Kerasin Thesaurismosis

Glucocerebrosidase Deficiency

Glucosylceramidase Deficiency

Cerebroside Lipidosis Syndrome

Acid Beta-Glucosidase Deficiency

Glucosylceramide Beta-Glucosidase Deficiency

Acute Cerebral Gaucher Disease

Gaucher Splenomegaly

Glucocerebrosidosis

Glucosyl Cerebroside Lipidosis

Kerasin Lipoidosis

Lipoid Histiocytosis

Glocucerebrosidase Deficiency

Sphingolipidosis 1

Gaucher Syndrome

Gauchers Disease

Gd

Glucosylceramide Lipidosis

Kerasin Histiocytosis

Gaucher Disease, Type 1

Gaucher Disease, Type 2

Sphingolipidoses

Hemihypertrophy

Hemihyperplasia

Isolated Hemihyperplasia

IH

Hhp

Hemihypertrophy, Isolated

Hemi 3 Syndrome

Hemicorporal Hypertrophy

Isolated Hemihypertrophy

Hemi-3 Syndrome

Opitz Trigonocephaly Syndrome

Trigonocephaly

Trigonocephaly Syndrome

Trigonocephaly C Syndrome

Opitz C Trigonocephaly

Opitz Trigonocephaly C Syndrome

Otcs

CSYN

Globoid Cell Leukodystrophy

Galactosylceramide Beta-Galactosidase Deficiency

Galc Deficiency

Galactocerebrosidase Deficiency

GLD

Globoid Cell Leukoencephalopathy

Diffuse Globoid Body Sclerosis

Gcl

Leukodystrophy, Globoid Cell

Krabbe'S Leukodystrophy

Krabbe Leukodystrophy

KRB

Beta Galactocerebrosidase Deficiency

Krabbe'S Disease

Galactosylceramidase Deficiency Disease

Galactosylceramide Lipidosis

Galactosylcerebrosidase Deficiency

Galactosylsphingosine Lipidosis

Psychosine Lipidosis

Galactosylceramidase Deficiency

Infantile Globoid Cell Leukodystrophy

Krabbe Brain Sclerosis

Jankovic-Rivera Syndrome

SMAPME

Sma-Pme

Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome

Hereditary Myoclonus-Progressive Distal Muscular Atrophy Syndrome

Hereditary Myoclonus With Progressive Distal Muscular Atrophy

Jankovic Rivera Syndrome

Myoclonus, Hereditary, With Progressive Distal Muscular Atrophy

Myoclonus Hereditary Progressive Distal Muscular Atrophy

Atrophy, Muscular, Spinal, With Progressive Myoclonic Epilepsy

Wolman Disease

Cholesteryl Ester Storage Disease

Lal Deficiency

Lipa Deficiency

Cholesterol Ester Storage Disease

CESD

Cholesterol Ester Hydrolase Deficiency

Acid Lipase Deficiency

Acid Esterase Deficiency

Familial Xanthomatosis

Wolman Xanthomatosis

Wolman'S Disease

Wolman'S Or Triglyceride Storage Type Iii Disease

Xanthomatosis, Familial

Liposomal Acid Lipase Deficiency, Wolman Type

Familial Visceral Xanthomatosis

Primary Familial Xanthomatosis

Primary Familial Xanthomatosis With Adrenal Calcification

Acid Lipase Disease

WOD

Acid Cholesteryl Ester Hydrolase Deficiency, Type 2

Sea-Blue Histiocytosis

Sea-Blue Histiocyte Syndrome

Histiocytosis, Sea-Blue

Inherited Lipemic Splenomegaly

SBHD

Gangliosidosis Gm2

Gangliosidoses, Gm2

Total Hexosaminidase Deficiency

Hexosaminidases A And B Deficiency

Sandhoff Disease, Infantile, Juvenile, And Adult Forms

Beta-Hexosaminidase-Beta-Subunit Deficiency

Gm2 Gangliosidosis, Type 2

Hexosaminidase A And B Deficiency Disease

Sandhoff-Jatzkewitz-Pilz Disease

Gm2 Gangliosidosis, Type Ii

Sandhoff Disease, Infantile Form

Sandhoff Disease, Adult Form

Sandhoff Disease, Juvenile Form

Gm2-Gangliosidosis, Type Ii

Sandhoff Jatzkewitz Disease

Type Ii Gm2 Gangliosidosis

Gm2 Gangliosidosis, 0 Variant

Gm2 Gangliosidosis 0 Variant

Hexosaminidases A And B Deficiency, Infantile Form

Infantile Gm2 Gangliosidosis 0 Variant

Adult Gm2 Gangliosidosis 0 Variant

Hexosaminidases A And B Deficiency, Adult Form

Hexosaminidases A And B Deficiency, Juvenile Form

Juvenile Gm2 Gangliosidosis 0 Variant

Gm2-Gangliosidosis 2

GM2G2

Hexosaminidase A And B Deficiency

Sd

NPC2

Niemann-Pick Disease Type C2

Niemann-Pick C2 Disease

Niemann-Pick Disease C2

Gangliosidoses

Hexosaminidase A Deficiency

TSD

Hexa Deficiency

Gm2 Gangliosidosis, Type 1

Hexosaminidase Alpha-Subunit Deficiency

Gm2-Gangliosidosis, Several Forms

Gm2-Gangliosidosis, B, B1, Ab Variant

B Variant Gm2 Gangliosidosis

Sphingolipidosis, Tay-Sachs

Gm2-Gangliosidosis, Type I

B Variant Gm2-Gangliosidosis

Hex A Pseudodeficiency

Hexa Disorders

Beta-Hexosaminidase A Deficiency

Gm2 Gangliosidosis, Type I

Gangliosidosis Gm2 , Type 1

Gm2 Gangliosidosis, B, B1 Variant

Gm2-Gangliosidosis 1

GM2G1

Gm2-Gangliosidosis B Variant

Tay-Sachs Disease Pseudo-Ab Variant

Tay-Sachs Disease Variant B1

Gangliosidoses, Gm2

Acquired Keratoderma

Keratoderma - Acquired

Keratoderma, Acquired

Keratosis Blennorrhagica

Beta-Galactosidase Deficiency

Gangliosidosis Gm1

Deficiency Of Beta-Galactosidase

Beta Galactosidase 1 Deficiency

Beta-Galactosidosis

Glb 1 Deficiency

Beta-Galactosidase-1 Deficiency

Beta-Galactosidase-1 Deficiency

Glb1 Deficiency

Landing Disease

Gangliosidosis, Gm1

Lipoidosis

Inborn Lipid Storage Disorder

Lipoid Storage Diseas

Lipid Storage Diseases

Lipidoses

Mucoviscidosis

CF

Pseudomonas Aeruginosa, Susceptibility To Chronic Infection By, In Cystic Fibrosis

Pseudomonas Aeruginosa Chronic Infection By, In Cystic Fibrosis

Cystic Fibrosis Lung Disease, Modifier Of

Cystic Fibrosis Of Pancreas

Fibrocystic Disease Of Pancreas

Cf - [Cystic Fibrosis]

Cystic Fibrosis Nos

Fibrocystic Disease

Fibrocystic Disease Of The Pancreas

Mucoviscidosis Of Pancreas

Nonproliferative Fibrocystic Disease

Pancreatic Cystic Fibrosis

Arylsulfatase A Deficiency

MLD

Arsa Deficiency

Sulfatide Lipidosis

Metachromatic Leukoencephalopathy

Cerebral Sclerosis, Diffuse, Metachromatic Form

Cerebroside Sulfatase Deficiency

Leukodystrophy, Metachromatic

Pseudoarylsulfatase A Deficiency

Leukodystrophy Metachromatic

Sulfatidosis

Metachromatic Leukodystrophy, Late Infantile

Metachromatic Leukodystrophy Variant

Deficiency Of Cerebroside-Sulfatase

Scholz Cerebral Sclerosis

Sulfatide Lipoidosis

Cerebral Sclerosis Diffuse Metachromatic Form

Arylsulfatase A Deficiency Disease

Cerebroside Sulphatase Deficiency Disease

Greenfield Disease

Metachromatic Leukodystrophy, Adult

Metachromatic Leukodystrophy, Juvenile

Leukodystrophy Metachromatic Adult

Leukodystrophy Metachromatic Juvenile

Leukodystrophy Metachromatic Late Infantile

Metachromatic Leukodystrophy, Adult Type

Metachromatic Leukodystrophy, Juvenile Type

Metachromatic Leukodystrophy, Infant

Greenfield'S Disease

Mps Iva

Galns Deficiency

MPS4A

Morquio A Disease

Galactosamine-6-Sulfatase Deficiency

Morquio Syndrome A

Mucopolysaccharidosis Iva

Mucopolysaccharidosis Type Iva

Mpsiva

Morquio Disease Type A

Mucopolysaccharidosis Type 4a

N-Acetylgalactosamine-6-Sulfate Sulfatase Deficiency

Morquio Syndrome Type A

Mps 4a

Morquio Disease, Type A

Mucopolysaccharidosis 4a

Morquio'S Syndrome A

Mps Iv A

Mucopolysaccharidosis Iv

Mucopolysaccharidosis, Mps-Iv-A

Glucocerebrosidase Deficiency

Acid Beta-Glucosidase Deficiency

Gba Deficiency

GD1

Gd I

Gaucher Disease, Noncerebral Juvenile

Gaucher Disease Type 1

Gaucher Disease Type I

Gaucher'S Disease Type I

Gaucher Disease

Gd 1

Non-Cerebral Juvenile Gaucher Disease

GD

Gaucher Disease 1

Adult Non-Neuronopathic Gaucher Disease

Noncerebral Juvenile Gaucher Disease

Type 1 Gaucher Disease

Gaucher Disease, Type 1

Sanfilippo Syndrome

Mucopolysaccharidosis Type Iii

Mucopolysaccharidosis Type 3

Mps Iii

Mpsiii

Sanfilippo Disease

Heparan Sulfate Sulfatase Deficiency

Mucopolysaccharidosis, Mps-Iii

N-Sulphoglucosamine Sulphohydrolase Deficiency

Naglu Deficiency

Sanfilippo'S Syndrome

Mucopoly-Saccharidosis Type 3

Mps3

Sanfilippos Syndrome

Mucopolysaccharidosis Type Iiia

Mps Iii B

Mucopolysaccharidosis Type Iiia

MPS3A

Mps Iiia

Sanfilippo Syndrome A

Heparan Sulfate Sulfatase Deficiency

Sulfamidase Deficiency

Heparan Sulfamidase Deficiency

Mpsiiia

Mucopolysaccharidosis Type 3a

Sanfilippo Syndrome Type A

Mucopolysaccharidosis Iii-A

Heparane Sulfamidase Deficiency

Mps 3a

Mucopoly-Saccharidosis Type 3a

Mps Iii-A

Mucopolysaccharidosis 3a

Mucopolysaccharidosis Iii

Hereditary Ceroid Lipofuscinosis

Batten Disease

Ncl

Neuronal Ceroid-Lipofuscinoses

Lipofuscinosis, Ceroid, Neuronal

Juvenile Neuronal Ceroid Lipofuscinosis

Cerebromacular Dystrophy

Cerebromacular Degeneration

Ceroid-Lipofuscinosis

Ncl - [Neuronal Ceroid Lipofuscinosis]

Amaurotic Familial Idiocy

Amaurotic Idiocy

Amaurotic Idiot

Neuronal Lipofuscinosis

Pigmentary Retinal Lipoid Neuronal Heredodegeneration

Sphingosine Phosphate Lyase Insufficiency Syndrome

Nephrotic Syndrome 14

NPHS14

Splis

Nephrotic Syndrome Type 14

Sgpl1 Deficiency

Steroid-Resistant Nephrotic Syndrome Type 14

Familial Steroid-Resistant Nephrotic Syndrome With Adrenal Insufficiency

Primary Adrenal Insufficiency-Steroid-Resistant Nephrotic Syndrome Due To Sgpl1 Deficiency

Hereditary Sensory And Autonomic Neuropathy Type I

Hereditary Sensory Neuropathy-Deafness-Dementia Syndrome

Hsan1e

Hsan1

Dnmt1-Related Dementia, Deafness, And Sensory Neuropathy

Hsn1e

Hsnie

Hereditary Sensory Neuropathy Type Ie

Hereditary Sensory Neuropathy-Sensorineural Hearing Loss-Dementia Syndrome

Hereditary Sensory And Autonomic Neuropathy Type Ie

Hereditary Sensory And Autonomic Neuropathy Type 1e

Hereditary Sensory Neuropathy With Hearing Loss And Dementia

Dnmt1-Complex Disorder

Hereditary Sensory And Autonomic Neuropathy Type 1 With Dementia And Hearing Loss

Hsn Ie

Hereditary Sensory Autonomic Neuropathy, Type 1

Hsan1- [Hereditary Sensory And Autonomic Neuropathy Type I]

Pick Disease

Pick'S Disease

Pick Disease Of The Brain

Lobar Atrophy Of Brain

Dementia With Lobar Atrophy And Neuronal Cytoplasmic Inclusions

Behavioral Variant Of Frontotemporal Dementia

Dementia In Pick'S Disease

Lobar Atrophy Of The Brain

Bvftd

Bv-Ftd

PIDB

Picks Disease

Parkinson Disease

Parkinson'S Disease

PD

PARK

Parkinson Disease, Susceptibility To

Late Onset Parkinson'S Disease

Late Onset Parkinson Disease

Paralysis Agitans

Primary Parkinsonism

Idiopathic Parkinson Disease

Parkinson'S

Parkinson Disease, Late-Onset, Susceptibility To

Parkinson Disease, Age Of Onset, Modifier

Lewy Body Parkinson Disease

Idiopathic Parkinson'S Disease

Pd - [Parkinson Disease]

Parkinson Disease Nos

Parkinson, Nos

Primary Parkinson Disease

Alzheimer Disease

Alzheimer'S Disease

Presenile And Senile Dementia

AD1

Alzheimer Disease, Susceptibility To

Alzheimer Disease, Late-Onset, Susceptibility To

Alzheimer Disease 1, Familial

AD

Familial Alzheimer Disease

Alzheimer Disease, Late-Onset

Alzheimers Dementia

Alzheimer Dementia

Alzheimer Sclerosis

Alzheimer Syndrome

Alzheimer-Type Dementia

Dat

Primary Senile Degenerative Dementia

Sdat

Alzheimer Disease 1

Autosomal Dominant Alzheimer Disease

Early-Onset Alzheimer Disease With Cerebral Amyloid Angiopathy

Late Onset Alzheimer Disease

Alzheimers Disease

Alzheimer Disease, Early-Onset, With Cerebral Amyloid Angiopathy

Late-Onset Alzheimers Disease

Alzheimer'S Disease Pathway Kegg

Dementia Due To Alzheimer'S Disease

Alzheimer Disease Type 1

Alzheimers