| Diseases |
Alias |
|
| Ceroid Lipofuscinosis, Neuronal, 3 |
|
Batten Disease
|
Juvenile Neuronal Ceroid Lipofuscinosis
|
|
Neuronal Ceroid Lipofuscinosis 3
|
CLN3
|
|
Jncl
|
Spielmeyer-Vogt Disease
|
|
Vogt-Spielmeyer Disease
|
Spielmeyer-Sjogren Disease
|
|
Cln3 Disease
|
Neuronal Ceroid Lipofuscinosis, Juvenile
|
|
Cln3 Disease, Juvenile
|
Spielmeyer Sjogren Disease
|
|
Vogt Spielmeyer Disease
|
Batten-Mayou Disease
|
|
Batten-Spielmeyer-Vogt Disease
|
Cln3-Related Neuronal Ceroid-Lipofuscinosis
|
|
Juvenile Batten Disease
|
Juvenile Cerebroretinal Degeneration
|
|
Classic Juvenile Ncl
|
Classic Juvenile Neuronal Ceroid Lipofuscinosis
|
|
Juvenile Ncl
|
Lipofuscinosis, Ceroid, Neuronal, Type 3
|
|
|
| Neuronal Ceroid Lipofuscinosis |
|
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
|
|
|
| Stargardt Disease 1 |
|
Fundus Flavimaculatus
|
STGD1
|
|
Retinal Dystrophy, Early-Onset Severe
|
Macular Dystrophy With Flecks, Type 1
|
|
Stargardt'S Disease
|
Stgd
|
|
Macular Degeneration, Juvenile
|
Macular Degeneration Juvenile
|
|
FFM
|
Juvenile Macular Degeneration
|
|
Macular Dystrophy With Flecks Type 1
|
Early Onset And Severe Retinal Dystrophy
|
|
|
| Cone-Rod Dystrophy 2 |
|
Cone-Rod Dystrophy
|
CORD2
|
|
Cone-Rod Retinal Dystrophy
|
Rcrd2
|
|
Cone-Rod Retinal Dystrophy 2
|
Crd2
|
|
Cord
|
Crd
|
|
Retinal Cone-Rod Dystrophy
|
Cone-Rod Retinal Dystrophy-2
|
|
Retinal Cone-Rod Dystrophy 2
|
Tapetoretinal Degeneration
|
|
Cone-Rod Degeneration
|
Cone Rod Dystrophy
|
|
Dystrophy, Cone-Rod
|
Dystrophy, Cone-Rod, Type 2
|
|
Retinitis Pigmentosa
|
Retinitis Pigmentosa 2
|
|
Progressive Cone-Rod Dystrophy
|
|
|
| Fundus Dystrophy |
|
Retinal Dystrophy
|
Retinal Dystrophies
|
|
Dystrophy, Retinal
|
|
|
| Retinitis Pigmentosa |
|
RP
|
Rod-Cone Dystrophy
|
|
Autosomal Recessive Retinitis Pigmentosa
|
Non-Syndromic Retinitis Pigmentosa
|
|
Pericentral Pigmentary Retinopathy
|
Pigmentary Retinopathy
|
|
Tapetoretinal Degeneration
|
Rcd
|
|
Retinitis Pigmentosa Autosomal Recessive
|
ARRP
|
|
Retinitis Pigmentosa, Autosomal Recessive
|
Retinitis Pigmentosa 1
|
|
|
| Neuronal Ceroid-Lipofuscinoses |
|
Infantile Neuronal Ceroid Lipofuscinosis
|
Santavuori Disease
|
|
Hagberg-Santavuori Disease
|
Incl
|
|
Infantile Ncl
|
Santavuori-Haltia Disease
|
|
Neuronal Ceroid-Lipofuscinosis, Infantile
|
Lipofuscin Storage Disease
|
|
Neuronal Ceroid Lipofuscinoses
|
Juvenile Neuronal Ceroid Lipofuscinosis
|
|
|
| Peripheral Retinal Degeneration |
|
Peripheral Degeneration Of Retina
|
Degeneration Of Retina Nos
|
|
Reticular Retinal Degeneration
|
Retinal Degeneration
|
|
|
| Ceroid Lipofuscinosis, Neuronal, 2 |
|
Jansky-Bielschowsky Disease
|
Neuronal Ceroid Lipofuscinosis 2
|
|
CLN2
|
Lincl
|
|
Cln2 Disease
|
Late-Infantile Neuronal Ceroid Lipofuscinosis
|
|
Ceroid Lipofuscinosis, Neuronal, 2, Variable Age At Onset
|
Neuronal Ceroid Lipofuscinosis 2 Variable Age At Onset
|
|
Cln2 Disease, Juvenile
|
Cln2 Disease, Late Infantile
|
|
Late-Infantile Batten Disease
|
Neuronal Ceroid Lipofuscinosis, Late-Infantile
|
|
Classic Late Infantile Ncl
|
Classic Late Infantile Neuronal Ceroid Lipofuscinosis
|
|
Neuronal Ceroid Lipofuscinosis 2 With Variable Age At Onset
|
Lipofuscinosis, Ceroid, Neuronal, Type 2
|
|
Late-Infantile Neuronal Ceroid Lipfuscinosis
|
|
|
| Retinal Degeneration |
|
|
| Lysosomal Storage Disease |
|
Lysosomal Storage Diseases
|
Disorder Of Lysosomal Enzyme
|
|
Inborn Lysosomal Enzyme Disorder
|
Lysosomal Storage Metabolism Disorder
|
|
Lysosomal Storage Disorder
|
|
|
| Phelan-Mcdermid Syndrome |
|
Chromosome 22q13.3 Deletion Syndrome
|
22q13.3 Deletion Syndrome
|
|
Telomeric 22q13 Monosomy Syndrome
|
PHMDS
|
|
Deletion 22q13 Syndrome
|
22q13.3 Deletion
|
|
Deletion 22q13.3 Syndrome
|
Monosomy 22q13
|
|
Monosomy 22q13.3
|
22q13 Deletion Syndrome
|
|
Monosomy 22q13 Syndrome
|
22q13 Deletion
|
|
Chromosome Deletion
|
|
|
| Myoclonic Epilepsy Of Lafora |
|
Lafora Disease
|
Epilepsy, Progressive Myoclonic 2b
|
|
EPM2
|
Melf
|
|
Epilepsy, Progressive Myoclonic 2a
|
Epm2a
|
|
Lafora'S Disease
|
Lafora Body Disease
|
|
Lbd
|
Epilepsy, Progressive Myoclonic, 2a
|
|
Lafora Progressive Myoclonic Epilepsy
|
Epilepsy Progressive Myoclonic 2
|
|
Lafora Body Disorder
|
Pme Type 2
|
|
Progressive Myoclonic Epilepsy Type 2
|
Progressive Myoclonus Epilepsy Type 2
|
|
Epilepsy, Progressive Myoclonic 2
|
Epm2b
|
|
Ld
|
Progressive Myoclonic Epilepsy 2
|
|
Progressive Myoclonic Epilepsy 2a
|
Progressive Myoclonic Epilepsy 2b
|
|
Progressive Myoclonic Epilepsy Lafora Type
|
Epilepsy, Myoclonic, Of Lafora
|
|
|
| Ceroid Lipofuscinosis, Neuronal, 13 |
|
Neuronal Ceroid Lipofuscinosis 13
|
CLN13
|
|
Neuronal Ceroid Lipofuscinosis 13 Kufs Type
|
Cln13 Disease
|
|
Lipofuscinosis, Ceroid, Neuronal, Type 13
|
|
|
| Ceroid Lipofuscinosis, Neuronal, 8, Northern Epilepsy Variant |
|
Northern Epilepsy
|
Neuronal Ceroid Lipofuscinosis 8 Northern Epilepsy Variant
|
|
Epmr
|
Progressive Epilepsy-Intellectual Disability Syndrome, Finnish Type
|
|
Northern Epilepsy Syndrome
|
Epilepsy, Progressive, With Mental Retardation
|
|
Northern Epilepsy Variant, Neuronal Ceroid Lipofuscinosis, Northern Epilepsy Variant
|
Progressive Epilepsy With Mental Retardation, Northern Epilepsy
|
|
Cln8 Disease, Northern Epilepsy Variant
|
Ncl, Northern Epilepsy Variant
|
|
Neuronal Ceroid Lipofuscinosis, Northern Epilepsy Variant
|
CLN8NE
|
|
Ceroid Lipofuscinosis, Neuronal, 8
|
|
|
| Scheie Syndrome |
|
Mucopolysaccharidosis Type Is
|
Alpha-L-Iduronidase Deficiency
|
|
Mucopolysaccharidosis Type I
|
Mucopolysaccharidosis I
|
|
Hurler-Scheie Syndrome
|
Mucopolysaccharidosis Type 1
|
|
Mucopolysaccharidosis Is
|
Mucopolysaccharidosis Type 1s
|
|
Mucopolysaccharidosis Type V
|
Hurler Syndrome
|
|
Idua Deficiency
|
Mps I
|
|
MPS1S
|
Mps1-S
|
|
Mucopolysaccharidosis Type V, Formerly
|
Mps V, Formerly
|
|
Mps5, Formerly
|
Lipochondrodystrophy
|
|
Mpsis
|
Mucopolysaccharidosis, Type I
|
|
Iduronidase Deficiency Disease
|
Mps I - Hurler Syndrome
|
|
Mucopolysaccharidosis, Mps-I
|
Mucopolysaccharidosis, Type 1
|
|
Attenuated Mps I
|
Mps 1
|
|
Scheie Syndrome Formerly Known As Mucopolysaccharidosis Type V)
|
Severe Mps I
|
|
Mps I H
|
Mps I H-S
|
|
Mps I S
|
Mps1
|
|
Mpsi
|
Mucopolysaccharidosis 1s
|
|
Mps Is
|
Mps-Is
|
|
Mps V
|
Mucopolysaccharidosis V
|
|
Pfaundler-Hurler Syndrome
|
L-Iduronidase Deficiency
|
|
Dysostosis Multiplex
|
Dysostosis Multiplex Syndrome
|
|
Gargoylism
|
Mps1 - [Mucopolysaccharidosis Type 1]
|
|
|
| Ceroid Lipofuscinosis, Neuronal, 11 |
|
Neuronal Ceroid Lipofuscinosis 11
|
CLN11
|
|
Cln11 Disease
|
Grn-Related Neuronal Ceroid-Lipofuscinosis
|
|
Lipofuscinosis, Ceroid, Neuronal, Type 11
|
|
|
| Ceroid Lipofuscinosis, Neuronal, 10 |
|
Neuronal Ceroid Lipofuscinosis Due To Cathepsin D Deficiency
|
Neuronal Ceroid Lipofuscinosis 10
|
|
CLN10
|
Cathepsin D Deficiency
|
|
Congenital Neuronal Ceroid Lipofuscinosis
|
Neuronal Ceroid Lipofuscinosis Cathepsin D-Deficient
|
|
Cln10 Disease
|
Ceroid Lipofuscinosis, Neuronal, Cathepsin D-Deficient
|
|
Cln10 Disease, Adult
|
Cln10 Disease, Congenital
|
|
Cln10 Disease, Juvenile
|
Cln10 Disease, Late Infantile
|
|
Ceroid Lipofuscinosis Neuronal Cathepsin D-Deficient
|
Cathepsin D Deficient Neuronal Ceroid Lipofuscinosis
|
|
Congenital Ncl
|
Lipofuscinosis, Ceroid, Neuronal, Type 10
|
|
Neuronal Ceroid Lipofuscinosis, Congenital
|
|
|
| Unverricht-Lundborg Syndrome |
|
Unverricht-Lundborg Disease
|
Epm1
|
|
Myoclonic Epilepsy Of Unverricht And Lundborg
|
Myoclonus Progressive Epilepsy Of Unverricht And Lundborg
|
|
Unverricht - Lundborg Disease
|
Unverricht'S Disease
|
|
Epilepsy, Progressive Myoclonic Type 1
|
Epilepsy, Progressive Myoclonus 1
|
|
Progressive Myoclonus Epilepsy Baltic Myoclonic Epilepsy
|
Baltic Myoclonic Epilepsy
|
|
Baltic Myoclonus
|
Baltic Myoclonus Epilepsy
|
|
Lundborg-Unverricht Syndrome
|
Mediterranean Myoclonic Epilepsy
|
|
Pme
|
Progressive Myoclonic Epilepsy
|
|
Progressive Myoclonus Epilepsy 1
|
Uld
|
|
Myoclonic Epilepsies, Progressive
|
|
|
| Aspartylglucosaminuria |
|
Aspartylglycosaminuria
|
Glycosylasparaginase Deficiency
|
|
Aspartylglucosaminidase Deficiency
|
Aga Deficiency
|
|
AGU
|
Aspartylglucosamidase Deficiency
|
|
Glycoasparaginase
|
Aspartylglucosamidase Deficiency
|
|
Hyperammonemia, Type Iii
|
|
|
| Progressive Myoclonus Epilepsy 3 |
|
Cln14 Disease
|
Epm3
|
|
Neuronal Ceroid Lipofuscinosis 14
|
Pme Type 3
|
|
Progressive Myoclonic Epilepsy Due To Kctd7 Deficiency
|
Progressive Myoclonus Epilepsy Type 3
|
|
Epilepsy, Progressive Myoclonic 3
|
|
|
| Mucopolysaccharidosis, Type Iiia |
|
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
|
|
|
| Lipid Storage Disease |
|
Lipoidosis
|
Inborn Lipid Storage Disorder
|
|
Lipoid Storage Diseas
|
Lipid Storage Diseases
|
|
Lipidoses
|
|
|
| Glycoproteinosis |
|
Sialidosis
|
Mucolipidosis Type I
|
|
Mucolipidoses
|
Cherry Red Spot Myoclonus Syndrome
|
|
Mucolipidosis I
|
Myoclonus Cherry Red Spot Syndrome
|
|
Type I Mucolipidosis
|
Lipomucopolysaccharidosis
|
|
Disorders Of Glycoprotein Metabolism
|
Glycoprotein Storage Disorder
|
|
|
| Gm1 Gangliosidosis |
|
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
|
|
|
| Hermansky-Pudlak Syndrome 6 |
|
HPS6
|
Albinism With Hemorrhagic Diathesis And Pigmented Reticuloendothelial
|
|
Delta Storage Pool Disease
|
Hermansky-Pudlak Syndrome, Type 6
|
|
Platelet Storage Pool Deficiency
|
Albinism With Hemorrhagic Diathesis And Pigmented Reticuloendothelial Cells
|
|
|
| Mucopolysaccharidosis Iii |
|
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
|
|
|
| Gangliosidosis |
|
|
| Mucolipidosis |
|
|
| Fucosidosis |
|
Alpha-L-Fucosidase Deficiency
|
Fucosidase Deficiency Disease
|
|
A-Fucosidase Deficiency
|
Alpha Fucosidase Deficiency
|
|
Lysosomal Storage Disease Caused By Defective Alpha-L-Fucosidase With Accumulation Of Fucose In The Tissues
|
Alpha-Fucosidase Deficiency
|
|
Fucosidase Deficiency
|
FUCA1D
|
|
|
| Ceroid Lipofuscinosis, Neuronal, 7 |
|
CLN7
|
Neuronal Ceroid Lipofuscinosis 7
|
|
Cln7 Disease
|
Cln7 Disease, Late Infantile
|
|
Mfsd8-Related Neuronal Ceroid Lipofuscinosis
|
Turkish Variant Late Infantile Ncl
|
|
Lipofuscinosis, Ceroid, Neuronal, Type 7
|
|
|
| Schwannoma Of Twelfth Cranial Nerve |
|
Hypoglossal Schwannoma
|
Schwannoma Of The Twelfth Cranial Nerve
|
|
|
| Hypoglossal Nerve Disease |
|
Hypoglossal Nerve Diseases
|
Disorder Of 12th Nerve
|
|
Disorder Of Hypoglossal [12th] Nerve
|
Disorder Of Hypoglossal Nerve
|
|
Disorder Of Xii Nerve
|
Disorders Of The Twelfth Cranial Nerve
|
|
Disorders Of 12th Cranial Nerve
|
|
|
| Mannosidosis, Alpha B, Lysosomal |
|
Alpha-Mannosidosis
|
Lysosomal Alpha-D-Mannosidase Deficiency
|
|
Deficiency Of Alpha-Mannosidase
|
Alpha-Mannosidase B Deficiency
|
|
Mannosidosis
|
MANSA
|
|
Mannosidosis, Alpha-, Types I And Ii
|
Alpha-D-Mannosidosis
|
|
Alpha-Mannosidase Deficiency
|
Α-Mannosidosis
|
|
Alpha Mannosidase B Deficiency
|
Mannosidosis, Alpha B Lysosomal
|
|
Lysosomal Alpha B Mannosidosis
|
Alpha-Mannosidosis, Infantile Form
|
|
Lysosomal Alpha-D-Mannosidase Deficiency, Infantile Form
|
Alpha-Mannosidosis, Adult Form
|
|
Lysosomal Alpha-D-Mannosidase Deficiency, Adult Form
|
Alpha-Mannosidosis Types I And Ii
|
|
Mannosidase Deficiency Diseases
|
|
|
| Gm2 Gangliosidosis |
|
Gangliosidosis Gm2
|
Gangliosidoses, Gm2
|
|
|
| C Syndrome |
|
Opitz Trigonocephaly Syndrome
|
Trigonocephaly
|
|
Trigonocephaly Syndrome
|
Trigonocephaly C Syndrome
|
|
Opitz C Trigonocephaly
|
Opitz Trigonocephaly C Syndrome
|
|
Otcs
|
CSYN
|
|
|
| Progressive Myoclonus Epilepsy |
|
Pme
|
Progressive Myoclonic Epilepsy
|
|
Myoclonic Epilepsies, Progressive
|
Unverricht-Lundborg Syndrome
|
|
|
| Mucopolysaccharidosis-Plus Syndrome |
|
Mucopolysaccharidosis
|
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
|
|
MPSPS
|
Mucopolysaccharidoses
|
|
Mps
|
Mucopolysaccharidosis-Like Plus Disease
|
|
Disorders Of Glycosaminoglycan Metabolism
|
|
|
| Mucolipidosis Iv |
|
Mucolipidosis Type Iv
|
ML4
|
|
Sialolipidosis
|
Mucolipidosis Type 4
|
|
Ganglioside Sialidase Deficiency
|
Mliv
|
|
Ml Iv
|
Berman Syndrome
|
|
Ganglioside Neuraminidase Deficiency
|
Ml 4
|
|
Mucolipidosis 4
|
Type Iv Mucolipidosis
|
|
Gangliosidoses
|
|
|
| Spinocerebellar Ataxia, Autosomal Recessive 7 |
|
SCAR7
|
Autosomal Recessive Spinocerebellar Ataxia 7
|
|
Spinocerebellar Ataxia Autosomal Recessive 7
|
Childhood Onset Autosomal Recessive Slowly Progressive Spinocerebellar Ataxia
|
|
Childhood-Onset Autosomal Recessive Slowly Progressive Spinocerebellar Ataxia
|
Autosomal Recessive Spinocerebellar Ataxia Type 7
|
|
Spinocerebellar Ataxia, Autosomal Recessive, 7
|
Ataxia, Spinocerebellar, Autosomal Recessive, Type 7
|
|
|
| Glycogen Storage Disease Ii |
|
Pompe Disease
|
Glycogen Storage Disease Type Ii
|
|
Acid Maltase Deficiency
|
Gsd Ii
|
|
Gaa Deficiency
|
Alpha-1,4-Glucosidase Deficiency
|
|
Glycogenosis Type Ii
|
GSD2
|
|
Acid Alpha-Glucosidase Deficiency
|
Amd
|
|
Glycogen Storage Disease, Type Ii
|
Pompe'S Disease
|
|
Glycogen Storage Disease Type 2
|
Cardiomegalia Glycogenica Diffusa
|
|
Acid Maltase Deficiency Disease
|
Deficiency Of Alpha-Glucosidase
|
|
Glycogenosis, Generalized, Cardiac Form
|
Deficiency Of Glucoamylase
|
|
Deficiency Of Maltase
|
Generalized Glycogenosis
|
|
Glycogenosis, Type 2
|
Lysosomal Alpha-1,4-Glucosidase Deficiency
|
|
Glucosidase Acid-1,4-Alpha Deficiency
|
Aglucosidase Alfa
|
|
Deficiency Of Lysosomal Alpha-Glucosidase
|
Glycogen Storage Disease Due To Acid Maltase Deficiency
|
|
Alpha-1,4-Glucosidase Acid Deficiency
|
Gsd Due To Acid Maltase Deficiency
|
|
Gsd Type 2
|
Gsd Type Ii
|
|
Glycogenosis Due To Acid Maltase Deficiency
|
Glycogenosis Type 2
|
|
Glycogen Storage Disease 2
|
Cardiomegalia Glycogenica
|
|
Glycogenosis Generalized Cardiac Form
|
Glycogenosis Ii
|
|
Gsd-Ii
|
Storage Disease, Glycogen, Type Ii
|
|
Generalized Glycogen Storage Disease Of Infants
|
Cardiac Form Of Generalized Glycogenosis
|
|
|
| Sphingolipidosis |
|
|
| Tay-Sachs Disease |
|
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
|
|
|
| Cystinosis |
|
Cystine Storage Disease
|
Cystine Diathesis
|
|
Cystine Disease
|
Cystinoses
|
|
Protein Defect Of Cystin Transport
|
Cystin Transport, Protein Defect Of
|
|
Nephropathic Cystinosis
|
Protein Defect Of Cystine Transport
|
|
|
| Cenani-Lenz Syndactyly Syndrome |
|
Syndactyly Type 7
|
Cenani Syndactylism
|
|
Cenani-Lenz Syndactyly
|
CLSS
|
|
Syndactyly Cenani Lenz Type
|
Cenani-Lenz Syndrome
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Syndactyly, Type Vii
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Cenani-Lenz Type Syndactyly
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Cenani Syndactyly
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Syndactyly Type Vii
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| Niemann-Pick Disease, Type C1 |
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Niemann-Pick Disease, Type C
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NPC1
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Niemann-Pick Disease, Type D
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Niemann-Pick Disease Type C1
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Niemann-Pick Disease With Cholesterol Esterification Block
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Niemann-Pick Disease, Subacute Juvenile Form
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Neurovisceral Storage Disease With Vertical Supranuclear Ophthalmoplegia
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Npc
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Niemann-Pick Disease, Chronic Neuronopathic Form
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Niemann-Pick Disease Without Sphingomyelinase Deficiency
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Niemann-Pick Disease Type C
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Niemann-Pick Disease Type D
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Niemann-Pick C1 Disease
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Niemann-Pick Disease C1
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Niemann-Pick Disease Chronic Neuronopathic Form
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Niemann-Pick Disease Nova Scotian Type
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Niemann-Pick Disease Subacute Juvenile Form
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Niemann-Pick Disease Type Ii
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Niemann-Picks Disease Type C
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| Gaucher'S Disease |
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Gaucher Disease
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Kerasin Thesaurismosis
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Glucocerebrosidase Deficiency
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Glucosylceramidase Deficiency
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Cerebroside Lipidosis Syndrome
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Acid Beta-Glucosidase Deficiency
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Glucosylceramide Beta-Glucosidase Deficiency
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Acute Cerebral Gaucher Disease
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Gaucher Splenomegaly
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Glucocerebrosidosis
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Glucosyl Cerebroside Lipidosis
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Kerasin Lipoidosis
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Lipoid Histiocytosis
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Glocucerebrosidase Deficiency
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Sphingolipidosis 1
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Gaucher Syndrome
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Gauchers Disease
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Gd
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Glucosylceramide Lipidosis
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Kerasin Histiocytosis
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Gaucher Disease, Type 1
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Gaucher Disease, Type 2
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| Metachromatic Leukodystrophy |
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Arylsulfatase A Deficiency
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MLD
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Arsa Deficiency
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Sulfatide Lipidosis
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Metachromatic Leukoencephalopathy
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Cerebral Sclerosis, Diffuse, Metachromatic Form
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Cerebroside Sulfatase Deficiency
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Leukodystrophy, Metachromatic
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Pseudoarylsulfatase A Deficiency
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Leukodystrophy Metachromatic
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Sulfatidosis
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Metachromatic Leukodystrophy, Late Infantile
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Metachromatic Leukodystrophy Variant
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Deficiency Of Cerebroside-Sulfatase
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Scholz Cerebral Sclerosis
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Sulfatide Lipoidosis
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Cerebral Sclerosis Diffuse Metachromatic Form
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Arylsulfatase A Deficiency Disease
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Cerebroside Sulphatase Deficiency Disease
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Greenfield Disease
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Metachromatic Leukodystrophy, Adult
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Metachromatic Leukodystrophy, Juvenile
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Leukodystrophy Metachromatic Adult
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Leukodystrophy Metachromatic Juvenile
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Leukodystrophy Metachromatic Late Infantile
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Metachromatic Leukodystrophy, Adult Type
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Metachromatic Leukodystrophy, Juvenile Type
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Metachromatic Leukodystrophy, Infant
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Greenfield'S Disease
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| Niemann-Pick Disease |
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Sphingomyelin/Cholesterol Lipidosis
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Niemann-Pick Diseases
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Lipoid Histiocytosis
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Sphingomyelin Lipidosis
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Sphingomyelinase Deficiency Disease
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Lipid Histiocytosis
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Neuronal Cholesterol Lipidosis
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Neuronal Lipidosis
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Npd
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Sphingomyelinase Deficiency
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Niemann-Pick Disease, Type A
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| Stargardt Disease |
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Stargardt Disease 1
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Stargardt Macular Dystrophy
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Stargardt Disease-1
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Juvenile Onset Macular Degeneration
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Stargardt Macular Degeneration
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Juvenile Macular Degeneration
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Macular Dystrophy With Flecks, Type 1
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Stgd
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Fundus Flavimaculatus
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Stargardt 1
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Stargardts Disease
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| Early Myoclonic Encephalopathy |
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Myoclonic Epilepsy
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Myoclonic Seizure
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Epilepsies, Myoclonic
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Epileptic Seizures - Myoclonic
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Epileptic Seizures, Myoclonic
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Myoclonia Epileptica
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Myoclonic Seizure Disorder
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Early Myoclonic Encephalopathy With Suppression-Bursts
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| Peroxisome Biogenesis Disorder 1b |
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Peroxisome Biogenesis Disorder
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Infantile Refsum Disease
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Infantile Phytanic Acid Storage Disease
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PBD1B
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Refsum Disease, Infantile
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Adrenoleukodystrophy, Autosomal Neonatal
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Ird
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Mild Pbd-Zsd
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Mild Peroxisome Biogenesis Disorder-Zellweger Spectrum Disorder
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Pbd-Zsd
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Peroxisome Biogenesis Disorder Spectrum
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Peroxisome Biogenesis Disorder-Zellweger Spectrum Disorder
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Autosomal Neonatal Adrenoleukodystrophy
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Refsum Disease Infantile
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Peroxisome Biogenesis Disorders
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Peroxisome Biogenesis Disorder, Type 1b
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| Eye Disease |
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Eye Diseases
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Abnormality Of The Eye
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Toxoplasma Oculopathy
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| Leber Plus Disease |
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Leber Congenital Amaurosis
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Lca
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Leber'S Amaurosis
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Leber'S Disease
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Amaurosis Congenita Of Leber
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Amaurosis Congenita Of Leber, Type 1
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Lhon Plus Disease
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Congenital Absence Of The Rods And Cones
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Congenital Retinal Blindness
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Crb
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Congenital Amaurosis Of Retinal Origin
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Leber'S Congenital Amaurosis
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Leber Congenital Amaurosis 1
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Leber'S Congenital Tapetoretinal Degeneration
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Leber'S Congenital Tapetoretinal Dysplasia
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Lca1
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Leber Congenital Amaurosis Type 1
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Retinal Blindness, Congenital
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Amaurosis, Leber Congenital
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Dysgenesis Neuroepithelialis Retinae
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Hereditary Epithelial Dysplasia Of Retina
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Hereditary Retinal Aplasia
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Heredoretinopathia Congenitalis
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Leber Abiotrophy
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Leber Congenital Tapetoretinal Degeneration
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Lebers Congenital Amaurosis
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Optic Atrophy, Hereditary, Leber
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