| 疾病名称 |
别名 |
|
| 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
|
|
|
| Mucolipidosis |
|
|
| Mucolipidoses |
|
|
| Periventricular Leukomalacia |
|
Leukomalacia, Periventricular
|
Pvl
|
|
Leukomalacia Periventricular
|
|
|
| Nervous System Disease |
|
Abnormality Of The Nervous System
|
Nervous System Diseases
|
|
Nervous System Disorder
|
|
|
| Lysosomal Storage Disease |
|
Lysosomal Storage Diseases
|
Disorder Of Lysosomal Enzyme
|
|
Inborn Lysosomal Enzyme Disorder
|
Lysosomal Storage Metabolism Disorder
|
|
Lysosomal Storage Disorder
|
|
|
| Retinal Degeneration |
|
|
| Strabismus |
|
Strabismus, Susceptibility To
|
Strabismus, Susceptibility To, 1
|
|
Strabismus 1
|
|
|
| Congenital Nervous System Abnormality |
|
Congenital Neurologic Anomaly
|
Congenital Nervous System Disorder
|
|
|
| Yunis-Varon Syndrome |
|
Cleidocranial Dysplasia With Micrognathia, Absent Thumbs, And Distal Aphalangia
|
Yunis Varon Syndrome
|
|
YVS
|
Cleidocranial Dysplasia-Micrognathia-Absent Thumbs Syndrome
|
|
Cleidocranial Dysplasia, Micrognathia, Absent Thumbs, & Distal Aphalangia
|
Yunis-Varón Syndrome
|
|
|
| Spondylometaphyseal Dysplasia, Kozlowski Type |
|
Spondylometaphyseal Dysplasia Kozlowski Type
|
Jequier Kozlowski Skeletal Dysplasia
|
|
Smd Kozlowski Type
|
SMDK
|
|
Dysmorphism Arthrogryposis Skeletal Maturation Advanced
|
Jequier-Kozlowski Syndrome
|
|
Skeletal Dysplasia Jequier-Kozlowski Type
|
Smd, Kozlowski Type
|
|
|
| Spondyloepiphyseal Dysplasia, Maroteaux Type |
|
Spondyloepiphyseal Dysplasia Maroteaux Type
|
Pseudo-Morquio Syndrome Type 2
|
|
Sed, Maroteaux Type
|
Brachyolmia Type 2
|
|
Pseudo-Morquio Syndrome, Type 2
|
Spondyloepiphyseal Dysplasia Of Maroteaux
|
|
Brachyolmia Maroteaux Type
|
SEDM
|
|
Sed Maroteaux Type
|
Dysplasia, Spondyloepiphyseal, Maroteaux Type
|
|
|
| Charcot-Marie-Tooth Disease, Type 4j |
|
Charcot-Marie-Tooth Disease Type 4j
|
CMT4J
|
|
Charcot-Marie-Tooth Disease, Autosomal Recessive, Type 4j
|
Autosomal Recessive Charcot-Marie-Tooth Disease Type 4j
|
|
Charcot-Marie-Tooth Disease 4j
|
|
|
| Psoriasis 13 |
|
PSORS13
|
Psoriasis 13, Susceptibility To
|
|
Psoriasis
|
Psoriasis Vulgaris
|
|
Psoriasis Susceptibility 13
|
Pv
|
|
Psoriasis, Susceptibility To, Type 13
|
|
|
| Parastremmatic Dwarfism |
|
Parastremmatic Dysplasia
|
PSTD
|
|
Dwarfism, Parastremmatic
|
|
|
| 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
|
|
|
| Mucolipidosis Iii Alpha/Beta |
|
Pseudo-Hurler Polydystrophy
|
Mucolipidosis Iii
|
|
Ml Iii Alpha/Beta
|
Mucolipidosis Iiia
|
|
Ml Iiia
|
Ml Iii
|
|
Ml 3 A
|
Ml3
|
|
Mucolipidosis Type 3a
|
Mucolipidosis Iii, Variant
|
|
Mucolipidosis Type Iii Alpha/Beta
|
Ml 3 Alpha/Beta
|
|
Mucolipidosis Type 3 Alpha/Beta
|
Mucolipidosis Type 3
|
|
Mucolipidosis Type Iii Complementation Group A
|
MLIIIA
|
|
Cariant Pseudo-Hurler Polydystrophy
|
Mucolipidosis, Type Iii Alpha/Beta
|
|
Mucolipidosis, Type Iii, Alpha/Beta
|
|
|
| Familial Episodic Pain Syndrome |
|
|
| 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
|
|
|
| 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
|
|
|
| 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
|
|
|
| Brachyolmia |
|
|
| Lipid Storage Disease |
|
Lipoidosis
|
Inborn Lipid Storage Disorder
|
|
Lipoid Storage Diseas
|
Lipid Storage Diseases
|
|
Lipidoses
|
|
|
| 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
|
|
|
| Sphingolipidosis |
|
|
| Niemann-Pick Disease |
|
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
|
|
|
| Gm2 Gangliosidosis |
|
Gangliosidosis Gm2
|
Gangliosidoses, Gm2
|
|
|
| Severe Combined Immunodeficiency |
|
Scid
|
Severe Combined Immunodeficiency Disease
|
|
Combined T And B Cell Inborn Immunodeficiency
|
Immunodeficiency, Severe Combined
|
|
Scid - [Severe Combined Immunodeficiencies]
|
|
|
| C Syndrome |
|
Opitz Trigonocephaly Syndrome
|
Trigonocephaly
|
|
Trigonocephaly Syndrome
|
Trigonocephaly C Syndrome
|
|
Opitz C Trigonocephaly
|
Opitz Trigonocephaly C Syndrome
|
|
Otcs
|
CSYN
|
|
|
| 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
|
|
|
| Gaucher'S Disease |
|
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
|
|
|
| Niemann-Pick Disease, Type C1 |
|
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
|
|
|
| Autosomal Dominant Polycystic Kidney Disease |
|
Polycystic Kidney Disease, Adult Type
|
Adpkd
|
|
Polycystic Kidney Diseases
|
Polycystic Kidney, Autosomal Dominant
|
|
Congenital Biliary Ectasias
|
Polycystic Kidney And Hepatic Disease 1
|
|
Polycystic Kidney Disease, Autosomal Dominant
|
Kidney, Polycystic, Disease, Autosomal Dominant
|
|
Adult Polycystic Kidney Disease
|
Polycystic Kidney, Adult Type
|
|
Apckd - [Autosomal Polycystic Kidney Disease]
|
|
|
| Charcot-Marie-Tooth Disease |
|
Cmt
|
Hmsn
|
|
Hereditary Motor And Sensory Neuropathy
|
Pma
|
|
Cmt - Charcot-Marie-Tooth Disease
|
Charcot Marie Tooth Disease
|
|
Charcot-Marie-Tooth Hereditary Neuropathy
|
Charcot-Marie-Tooth Syndrome
|
|
Peroneal Muscular Atrophy
|
Hereditary Motor And Sensory Neuropathies
|
|
|
| Fundus Dystrophy |
|
Retinal Dystrophy
|
Retinal Dystrophies
|
|
Dystrophy, Retinal
|
|
|
