| 疾病名称 |
别名 |
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| Autosomal Dominant Non-Syndromic Intellectual Disability |
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| Arthrogryposis, Renal Dysfunction, And Cholestasis 1 |
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Arc Syndrome
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ARCS1
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Arthrogryposis Renal Dysfunction Cholestasis Syndrome
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Arthrogryposis-Renal Dysfunction-Cholestasis Syndrome
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Arcs
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Arthrogryposis, Renal Dysfunction And Cholestasis Syndrome
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Arthrogryposis, Renal Dysfunction, And Cholestasis
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Arthrogryposis-Renal Dysfunction-Cholestasis
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Arthrogryposis - Renal Dysfunction - Cholestasis
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Arthrogryposis Multiplex Congenita, Renal Dysfunction, And Cholestasis
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Arthrogryposis, Renal Dysfunction And Cholestasis Syndrome 1
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Arthrogryposis Renal Dysfunction And Cholestasis 1
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Arthrogryposis With Renal Dysfunction And Cholestasis Syndrome
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Arthrogryposis, Renal Dysfunction, Cholestasis, Type 1
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Kidney Failure
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Renal Insufficiency
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| Microvillus Inclusion Disease |
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Congenital Microvillous Atrophy
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Intractable Diarrhea Of Infancy
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Congenital Familial Protracted Diarrhea With Enterocyte Brush-Border Abnormalities
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Davidson Disease
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Microvillous Inclusion Disease
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Congenital Microvillus Atrophy
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Mvid
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Diarrhea 2 With Microvillus Atrophy
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Mvd
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Congenital Familial Protracted Diarrhea
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Davidson'S Disease
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Familial Enteropathy, Microvillus
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Microvillus Atrophy, Congenital
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Congenital Enteropathy
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Familial Protracted Enteropathy
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Microvillous Atrophy
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Microvillus Atrophy With Diarrhea 2
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Idi
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| Charcot-Marie-Tooth Disease, Type 4c |
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Charcot-Marie-Tooth Disease Type 4c
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CMT4C
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Charcot-Marie-Tooth Neuropathy Type 4c
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Charcot-Marie-Tooth Disease, Demyelinating, Autosomal Recessive, Type 4c
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Charcot-Marie-Tooth Neuropathy, Type 4c
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Autosomal Recessive Demyelinating Charcot-Marie-Tooth Disease Type 4c
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Charcot-Marie-Tooth Disease 4c
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Charcot-Marie-Tooth Disease Demyelinating Autosomal Recessive 4c
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| Congenital Diarrhea |
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| Carpenter Syndrome 1 |
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Carpenter Syndrome
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Acrocephalopolysyndactyly Type Ii
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Acps Ii
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CRPT1
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Acrocephalopolysyndactyly Type 2
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Acrocephalosyndactyly, Type Ii
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Acrocephalopolysyndactyly 2
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Acps2
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Acps 2
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Type Ii Acrocephalosyndactyly
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Carpenter Syndrome, Type 1
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Apert-Crouzon Disease
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| Charcot-Marie-Tooth Disease |
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Cmt
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Hmsn
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Hereditary Motor And Sensory Neuropathy
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Pma
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Cmt - Charcot-Marie-Tooth Disease
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Charcot Marie Tooth Disease
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Charcot-Marie-Tooth Hereditary Neuropathy
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Charcot-Marie-Tooth Syndrome
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Peroneal Muscular Atrophy
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Hereditary Motor And Sensory Neuropathies
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| Charcot-Marie-Tooth Disease, Axonal, Type 2b |
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Charcot-Marie-Tooth Disease Type 2b
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CMT2B
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Hmsn Iib
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Hmsn2b
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Charcot-Marie-Tooth Disease, Type 2b
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Hereditary Motor And Sensory Neuropathy Iib
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Autosomal Dominant Charcot-Marie-Tooth Disease Type 2b
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Charcot-Marie-Tooth Neuropathy Type 2b
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Charcot-Marie-Tooth Disease, Autosomal Dominant, Type 2b
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Charcot-Marie-Tooth Neuropathy, Type 2b
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Hereditary Motor And Sensory Nueropathy Iib
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Cmt 2b
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Charcot Marie Tooth Disease Type 2b
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Charcot-Marie-Tooth Disease, Neuronal, Type 2b
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Hereditary Motor And Sensory Neuropathy 2 B
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Peripheral Sensory Neuropathy, Autosomal Dominant
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Charcot-Marie-Tooth Disease 2b
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Charcot-Marie-Tooth Disease Axonal Type 2b
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Charcot-Marie-Tooth Disease Neuronal Type 2b
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Peripheral Sensory Neuropathy Autosomal Dominant
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Psn
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| Pontocerebellar Hypoplasia, Type 2e |
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Pontocerebellar Hypoplasia Type 2
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Pontocerebellar Hypoplasia Type 2e
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Pch2
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PCH2E
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Progressive Microcephaly From Birth Extrapyramidal Dyskinesia Chorea Epilepsy
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Pontocerebellar Hypoplasia 2e
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Pcca2
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Progressive Cerebello-Cerebral Atrophy Type 2
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Doid:0112328
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Hypoplasia, Pontocerebellar, Type 2e
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Pontocerebellar Hypoplasia, Type 2d
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Pontocerebellar Hypoplasia Type 2a
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| Griscelli Syndrome |
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Chediak-Higashi-Like Syndrome
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Griscelli-Prunieras Syndrome
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Partial Albinism-Immunodeficiency Syndrome
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Griscelli Disease
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Gs
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Hypopigmentation Immunodeficiency Disease
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Partial Albinism With Immunodeficiency
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Immunodeficiency Syndrome With Hypopigmentation
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Hypopigmentation-Immunodeficiency Disease
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| Charcot-Marie-Tooth Disease, Axonal, Type 2e |
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Charcot-Marie-Tooth Disease Type 2
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CMT2E
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CMT2S
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CMT2Y
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Charcot-Marie-Tooth Disease Type 2e
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Charcot-Marie-Tooth Disease Type 2y
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Charcot-Marie-Tooth Disease Axonal Type 2s
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Charcot-Marie-Tooth Disease, Axonal, Type 2s
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Charcot-Marie-Tooth Disease, Type 2e
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Hereditary Motor And Sensory Neuropathy Type 2
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Charcot-Marie-Tooth Neuropathy, Type 2s
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Charcot-Marie-Tooth Disease, Axonal, Autosomal Recessive, Type 2s
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Charcot-Marie-Tooth Disease, Axonal, Type 2y
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Charcot-Marie-Tooth Disease, Axonal, Autosomal Dominant, Type 2y
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Charcot-Marie-Tooth Neuropathy, Type 2y
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Charcot-Marie-Tooth Disease, Type 2y
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Autosomal Dominant Charcot-Marie-Tooth Disease Type 2e
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Charcot-Marie-Tooth Neuropathy Type 2e
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Autosomal Dominant Charcot-Marie-Tooth Disease Type 2 Due To Vcp Mutation
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Cmt2 Due To Vcp Mutation
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Charcot-Marie-Tooth Disease Type 2s
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Autosomal Dominant Charcot-Marie-Tooth Disease Type 2
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Autosomal Dominant Axonal Charcot-Marie-Tooth Disease
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Cmt2
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Charcot-Marie-Tooth Neuropathy, Type 2e
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Hereditary Motor And Sensory Neuropathy Guadalajara Neuronal Type
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Hereditary Motor And Sensory Neuropathy Okinawa Type
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Autosomal Dominant Axonal Charcot-Marie-Tooth Type 2y
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Charcot-Marie-Tooth Neuropathy Type 2y
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Autosomal Recessive Axonal Charcot-Marie-Tooth Type 2s
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Charcot-Marie-Tooth Neuropathy Type 2s
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Charcot-Marie-Tooth Type 2
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Autosomal Dominant Charcot-Marie-Tooth Disease Type 2y
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Charcot-Marie-Tooth Disease 2e
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Charcot-Marie-Tooth Disease Axonal Type 2e
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Charcot-Marie-Tooth Disease Neuronal Type 2e
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Charcot-Marie-Tooth Disease 2s
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Charcot-Marie-Tooth Neuropathy Axonal Type 2s
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Charcot-Marie-Tooth Disease 2y
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Charcot-Marie-Tooth Disease, Type 2
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Hereditary Motor And Sensory-Neuropathy Type Ii
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| Warburg Micro Syndrome 1 |
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Warburg Micro Syndrome
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Micro Syndrome
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Warbm
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WARBM1
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Warburg Sjo Fledelius Syndrome
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Warburg-Sjo-Fledelius Syndrome
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Micro Syndrome 1
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Microcephaly, Microcornea, Congenital Cataract, Intellectual Disability, Optic Atrophy And Hypogenitalism
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| Cystic Fibrosis |
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Mucoviscidosis
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CF
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Pseudomonas Aeruginosa, Susceptibility To Chronic Infection By, In Cystic Fibrosis
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Pseudomonas Aeruginosa Chronic Infection By, In Cystic Fibrosis
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Cystic Fibrosis Lung Disease, Modifier Of
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Cystic Fibrosis Of Pancreas
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Fibrocystic Disease Of Pancreas
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Cf - [Cystic Fibrosis]
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Cystic Fibrosis Nos
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Fibrocystic Disease
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Fibrocystic Disease Of The Pancreas
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Mucoviscidosis Of Pancreas
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Nonproliferative Fibrocystic Disease
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Pancreatic Cystic Fibrosis
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| Parkinson Disease, Late-Onset |
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Parkinson Disease
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Parkinson'S Disease
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PD
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PARK
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Parkinson Disease, Susceptibility To
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Late Onset Parkinson'S Disease
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Late Onset Parkinson Disease
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Paralysis Agitans
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Primary Parkinsonism
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Idiopathic Parkinson Disease
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Parkinson'S
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Parkinson Disease, Late-Onset, Susceptibility To
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Parkinson Disease, Age Of Onset, Modifier
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Lewy Body Parkinson Disease
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Idiopathic Parkinson'S Disease
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Pd - [Parkinson Disease]
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Parkinson Disease Nos
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Parkinson, Nos
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Primary Parkinson Disease
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| Hermansky-Pudlak Syndrome |
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Hps
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Albinism With Hemorrhagic Diathesis And Pigmented Reticuloendothelial Cells
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Hermanski-Pudlak Syndrome
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Hermansky Pudlak Syndrome
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Platelet Storage Pool Deficiency
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| Joubert Syndrome 1 |
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Joubert Syndrome
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Jbts
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Cerebellooculorenal Syndrome 1
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JBTS1
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Joubert-Boltshauser Syndrome
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Cerebelloparenchymal Disorder Iv
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Cpd4
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Cors1
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Joubert Syndrome And Related Disorders
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Jsrd
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Familial Aplasia Of The Vermis
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Joubert Syndrome Related Disorders
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Js
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Cerebellar Vermis Agenesis
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Cerebelloparenchymal Disorder 4
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Agenesis Of Cerebellar Vermis
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Cerebello-Oculo-Renal Syndrome
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Cors
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Joubert-Bolthauser Syndrome
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Cpd Iv
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Classic Joubert Syndrome
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Joubert Syndrome Type A
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Pure Joubert Syndrome
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Cerebello-Oculo-Renal Syndrome 1
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Joubert Syndrome-1
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Joubert Syndrome, Type 1
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Joubert'S Syndrome
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| Hereditary Spastic Paraplegia |
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Familial Spastic Paraplegia
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Hereditary Spastic Paraparesis
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Strumpell-Lorrain Disease
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Familial Spastic Paraparesis
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Hsp
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Spg
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Strümpell-Lorrain Disease
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Spastic Paraplegia, Hereditary
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French Settlement Disease
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Strumpell-Lorrain Syndrome
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Fsp
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Spastic Paraplegia, Familial
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Spastic Paraplegia Hereditary
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Spastic Paraplegia 3, Autosomal Dominant
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Spastic Paraparesis
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Hereditary Spastic Paralysis
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Familial Spastic Paralysis
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Hereditary Spastic Ataxia
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| Amyotrophic Lateral Sclerosis 1 |
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Amyotrophic Lateral Sclerosis
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ALS
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Lou Gehrig Disease
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Amyotrophic Lateral Sclerosis Type 1
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Charcot Disease
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ALS1
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Amyotrophic Lateral Sclerosis, Susceptibility To
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Fals
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Lou Gehrig'S Disease
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Mnd
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Motor Neuron Disease
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Familial Amyotrophic Lateral Sclerosis
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Amyotrophic Lateral Sclerosis 1, Familial
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Amyotrophic Lateral Sclerosis 1, Autosomal Dominant
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Motor Neuron Disease, Bulbar
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Motor Neurone Disease
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Amyotrophic Lateral Sclerosis With Dementia
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Dementia With Amyotrophic Lateral Sclerosis
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Motor Neuron Disease, Amyotrophic Lateral Sclerosis
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Sclerosis, Lateral, Amyotrophic
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Sclerosis, Lateral, Amyotrophic, Type 1
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Amyotrophic Sclerosis
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Als - [Amyotrophic Lateral Sclerosis]
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Wasting Palsy
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Amyotrophic Paralysis
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Amyotrophy Lateral Sclerosis
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Wasting Paralysis
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Spinal Progressive Amyotrophy
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Progressive Atrophic Paralysis
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| Cone-Rod Dystrophy 2 |
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Cone-Rod Dystrophy
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CORD2
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Cone-Rod Retinal Dystrophy
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Rcrd2
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Cone-Rod Retinal Dystrophy 2
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Crd2
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Cord
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Crd
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Retinal Cone-Rod Dystrophy
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Cone-Rod Retinal Dystrophy-2
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Retinal Cone-Rod Dystrophy 2
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Tapetoretinal Degeneration
|
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Cone-Rod Degeneration
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Cone Rod Dystrophy
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Dystrophy, Cone-Rod
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Dystrophy, Cone-Rod, Type 2
|
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Retinitis Pigmentosa
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Retinitis Pigmentosa 2
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Progressive Cone-Rod Dystrophy
|
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| Retinitis Pigmentosa |
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RP
|
Rod-Cone Dystrophy
|
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Autosomal Recessive Retinitis Pigmentosa
|
Non-Syndromic Retinitis Pigmentosa
|
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Pericentral Pigmentary Retinopathy
|
Pigmentary Retinopathy
|
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Tapetoretinal Degeneration
|
Rcd
|
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Retinitis Pigmentosa Autosomal Recessive
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ARRP
|
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Retinitis Pigmentosa, Autosomal Recessive
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Retinitis Pigmentosa 1
|
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| Congenital Nervous System Abnormality |
|
Congenital Neurologic Anomaly
|
Congenital Nervous System Disorder
|
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| Fundus Dystrophy |
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Retinal Dystrophy
|
Retinal Dystrophies
|
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Dystrophy, Retinal
|
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