| 疾病名称 |
别名 |
|
| Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 6 |
|
Mitochondrial Dna Deletion Syndrome With Progressive Myopathy
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PEOA6
|
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Autosomal Dominant Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions 6
|
Dna2-Related Mitochondrial Dna Deletion Syndrome
|
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Mitochondrial Dna Deletion Syndrome With Limb-Girdle Weakness
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Mtdna Deletion Syndrome With Limb-Girdle Weakness
|
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Mtdna Deletion Syndrome With Progressive Myopathy
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Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant, 6
|
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Progressive External Ophthalmoplegia, Autosomal Dominant 6
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Autosomal Dominant Progressive External Ophthalmoplegia 6
|
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Progressive External Ophthalmoplegia Autosomal Dominant 6
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Ophthalmoplegia, External, Progressive, With Mitochondrial Dna Deletions, Autosomal Dominant, Type 6
|
|
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| Seckel Syndrome 8 |
|
SCKL8
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Seckel Syndrome, Type 8
|
|
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| Isolated Growth Hormone Deficiency, Type Ia |
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Ighd Ia
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Primordial Dwarfism
|
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Isolated Growth Hormone Deficiency Type Ia
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Sexual Ateleiotic Dwarfism
|
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Pituitary Dwarfism I
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IGHD1A
|
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Illig-Type Growth Hormone Deficiency
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Growth Hormone Deficiency, Isolated, Type Ia
|
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Congenital Ighd Type Ia
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Congenital Isolated Gh Deficiency Type Ia
|
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Congenital Isolated Growth Hormone Deficiency Type Ia
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Pituitary Dwarfism 1
|
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Growth Hormone Deficiency, Isolated, Autosomal Recessive
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Autosomal Recessive Isolated Growth Hormone Deficiency
|
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Isolated Growth Hormone Deficiency Type 1a
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Congenital Ighd
|
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Congenital Isolated Gh Deficiency
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Congenital Isolated Growth Hormone Deficiency
|
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Growth Hormone Deficiency, Isolated Autosomal Recessive
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Illig Type Growth Hormone Deficiency
|
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Non-Acquired Isolated Growth Hormone Deficiency
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Growth Hormone Deficiency, Isolated, 1a
|
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Growth Hormone Deficiency Isolated Autosomal Recessive
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Dwarfism, Primordial
|
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Dwarfism
|
|
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| Seckel Syndrome |
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Microcephalic Primordial Dwarfism
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Bird-Headed Dwarfism
|
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Harper'S Syndrome
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Virchow-Seckel Dwarfism
|
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Nanocephalic Dwarfism
|
Sckl
|
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Seckel-Type Dwarfism
|
|
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| Autosomal Dominant Progressive External Ophthalmoplegia |
|
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| Seckel Syndrome 2 |
|
SCKL2
|
Seckel-Type Dwarfism 2
|
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Microcephalic Primordial Dwarfism 2
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Bird-Headed Dwarfism 2
|
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Seckel Syndrome, Type 2
|
|
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| Baller-Gerold Syndrome |
|
BGS
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Craniosynostosis With Radial Defects
|
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Craniosynostosis-Radial Aplasia Syndrome
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Craniosynostosis Radial Aplasia Syndrome
|
|
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| Mitochondrial Dna Depletion Syndrome 7 |
|
Ohaha Syndrome
|
Infantile Onset Spinocerebellar Ataxia
|
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Iosca
|
Infantile-Onset Spinocerebellar Ataxia
|
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Spinocerebellar Ataxia 8
|
MTDPS7
|
|
Ophthalmoplegia, Hypotonia, Ataxia, Hypacusis, And Athetosis
|
Ophthalmoplegia-Hypotonia-Ataxia-Hypoacusis-Athetosis Syndrome
|
|
Sca8
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Spinocerebellar Ataxia Infantile With Sensory Neuropathy
|
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Spinocerebellar Ataxia, Infantile-Onset
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Ophthalmoplegia, Hypotonia, Ataxia, Hypoacusis, And Athetosis
|
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Spinocerebellar Ataxia, Infantile, With Sensory Neuropathy
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Spinocerebellar Ataxia 8, Formerly
|
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Sca8, Formerly
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Iosca, Mitochondrial Dna Depletion Syndrome 7
|
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Ophthalmoplegia - Hypotonia - Ataxia - Hypoacusis - Athetosis
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Mitochondrial Dna Depletion Syndrome, Hepatocerebrorenal Form
|
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Mtdna Depletion Syndrome, Hepatocerebrorenal Form
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Mitochondrial Dna Depletion Syndrome 7 Hepatocerebral Type
|
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Ophthalmoplegia Hypotonia Ataxia Hypoacusis And Athetosis
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Pure Spinocerebellar Ataxia Japanese Type
|
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Sca4 Pure Japanese Type
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Spinocerebellar Ataxia Infantile-Onset
|
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Mitochondrial Dna Depletion Syndrome , Type 7
|
|
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| Rothmund-Thomson Syndrome, Type 2 |
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Rothmund-Thomson Syndrome
|
Rts
|
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RTS2
|
Poikiloderma Of Rothmund-Thomson
|
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Rothmund-Thomson Syndrome Type 2
|
Congenital Poikiloderma
|
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Poikiloderma Congenitale
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Poikiloderma Atrophicans And Cataract
|
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Poikiloderma Congenitale Of Rothmund-Thomson
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Poikiloderma Of Rothmund-Thomson Type 2
|
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Rothmund-Thomson Syndrome 2
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Erythrokeratodermia Variabilis
|
|
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| Fanconi Anemia, Complementation Group J |
|
Fanconi Anemia Complementation Group J
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FANCJ
|
|
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| Rapadilino Syndrome |
|
Absent Thumbs, Dislocated Joints, Long Face With Narrow Palpebral Fissures, Long Slender Nose, Arched Palate
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Radial And Patellar Aplasia
|
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Radial And Patellar Hypoplasia
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RAPADILINOS
|
|
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| Sensory Ataxic Neuropathy, Dysarthria, And Ophthalmoparesis |
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SANDO
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Mitochondrial Recessive Ataxia Syndrome
|
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Spinocerebellar Ataxia With Epilepsy
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Epilepsy, Progressive Myoclonic 5
|
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Epm5
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Miras
|
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SCAE
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Sensory Ataxic Neuropathy With Mitochondrial Dna Deletions, Autosomal Recessive
|
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Autosomal Recessive Sensory Ataxic Neuropathy With Mitochondrial Dna Deletions
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Progressive Myoclonic Epilepsy Type 5
|
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Pme Type 5
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Progressive Myoclonus Epilepsy Type 5
|
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Sensory Ataxic Neuropathy-Dysarthria-Ophthalmoparesis Syndrome
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Recessive Mitochondrial Ataxia Syndrome
|
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Sensory Ataxic Neuropathy Dysarthria And Ophthalmoparesis
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Mitochondrial Spinocerebellar Ataxia-Epilepsy Syndrome
|
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Mscae
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Sensory Ataxic Neuropathy With Mitochondrial Dna Deletions Autosomal Recessive
|
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Progressive Myoclonic Epilepsy With Sensory Ataxic Neuropathy
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Epilepsy, Progressive Myoclonic, 5
|
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Ataxia Neuropathy Spectrum
|
|
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| Kearns-Sayre Syndrome |
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Ophthalmoplegia
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Mitochondrial Cytopathy
|
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KSS
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Ophthalmoplegia, Pigmentary Degeneration Of Retina, And Cardiomyopathy
|
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Oculocraniosomatic Syndrome
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Chronic Progressive External Ophthalmoplegia With Myopathy
|
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Cpeo With Myopathy
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Total Ophthalmoplegia
|
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Ophthalmoplegia-Plus Syndrome
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Ophthalmoplegia, Progressive External, With Ragged-Red Fibers
|
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Cpeo With Ragged-Red Fibers
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Oculomotor Paralysis
|
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Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia Due To Duplication O
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Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia Due To Duplication Of Mitochondrial Dna
|
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Proximal Tubulopathy, Diabetes Mellitus And Cerebellar Ataxia
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Cpeo With Ragged Red Fibers
|
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Ophthalmoplegia Plus Syndrome
|
Ophthalmoplegia, Progressive External, With Ragged Red Fibers
|
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Kearns-Sayre Mitochondrial Cytopathy
|
Mitochondrial Myopathies
|
|
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| Chronic Progressive External Ophthalmoplegia |
|
Progressive External Ophthalmoplegia
|
Cpeo
|
|
Peo
|
Ophthalmoplegia, Chronic Progressive External
|
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Ophthalmoplegia, External, Progressive, Chronic
|
Graefe Disease
|
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Peo - [Progressive External Ophthalmoplegia]
|
Ophthalmoplegia Plus Syndrome
|
|
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| Mitochondrial Dna Depletion Syndrome |
|
|
| Mitochondrial Dna Depletion Syndrome 4a |
|
Alpers Syndrome
|
Alpers-Huttenlocher Syndrome
|
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Alpers Progressive Infantile Poliodystrophy
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Alpers Diffuse Degeneration Of Cerebral Gray Matter With Hepatic Cirrhosis
|
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Alpers Disease
|
Progressive Sclerosing Poliodystrophy
|
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Pndc
|
Diffuse Cerebral Sclerosis Of Schilder
|
|
MTDPS4A
|
Neuronal Degeneration Of Childhood With Liver Disease, Progressive
|
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Alper'S Syndrome
|
Alpers' Disease Or Gray-Matter Degeneration
|
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Diffuse Cerebral Degeneration In Infancy
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Infantile Poliodystrophy
|
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Poliodystrophia Cerebri Progressiva
|
Progressive Cerebral Poliodystrophy
|
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Alpers' Disease
|
Alpers Progressive Sclerosing Poliodystrophy
|
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Progressive Neuronal Degeneration Of Childhood With Liver Disease
|
Ahs
|
|
Mitochondrial Dna Depletion Syndrome 4a Alpers Type
|
Neuronal Degeneration Of Childhood With Liver Disease Progressive
|
|
|
| Xeroderma Pigmentosum, Variant Type |
|
Xeroderma Pigmentosum
|
XPV
|
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Xeroderma Pigmentosum Variant Type
|
Xeroderma Pigmentosum With Normal Dna Repair Rates
|
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Photosensitivity With Defective Dna Synthesis
|
Xp
|
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De Sanctis-Cacchione Syndrome
|
Desanctis-Cacchione Syndrome
|
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Xeroderma Pigmentosa
|
Xerodermic Idiocy
|
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Xeroderma Pigmentosum Variant
|
Xp - [Xeroderma Pigmentosum]
|
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Atrophoderma Pigmentosum
|
|
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| Mitochondrial Myopathy |
|
Mitochondrial Myopathies
|
Mitochondrial Cytopathy
|
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Myopathies In Mitochondrial Disorders
|
|
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| Microcephaly |
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Microencephaly
|
Microcephalus
|
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Microcephalic
|
Nanocephaly
|
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Congenital Microcephaly
|
Brain Hypoplasia
|
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Brain Nondevelopment
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Cephalic Hypoplasia
|
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Undeveloped Cerebrum
|
Undeveloped Brain
|
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Micrencephalon
|
Micrencephaly
|
|
|
| Trichothiodystrophy |
|
Ttd
|
Amish Brittle Hair Syndrome
|
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Bids Syndrome
|
Brittle Hair-Intellectual Impairment-Decreased Fertility-Short Stature Syndrome
|
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Ibids
|
Pibids
|
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Trichothiodystrophy Syndromes
|
|
|
| Aplastic Anemia |
|
Aplastic Anemia, Susceptibility To
|
Anemia Aplastic
|
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Idiopathic Aplastic Anemia
|
Secondary Aplastic Anemia
|
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Idiopathic Bone Marrow Failure
|
Aplastic Anemia Idiopathic
|
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AA
|
Anemia, Aplastic
|
|
Aplastic Anemia, Idiopathic
|
Erythroid Aplasia
|
|
Aa - [Aplastic Anaemia]
|
Haematopoietic Aplasia
|
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Aleukia Haemorrhagica
|
Anaemia Due To Decreased Red Cell Production
|
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Aplasia Bone Marrow
|
Aplastic Bone Marrow
|
|
Hypoplastic Anaemia Nos
|
Myeloid Bone Marrow Aplasia
|
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Pancytopenia
|
Panhaematopenia
|
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Hypoproliferative Anaemia
|
Medullary Hypoplasia
|
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Red Blood Cells Hypoplastic Anaemia
|
Panmyelophthisis
|
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Panhemocytopenia
|
Refractive Hypoproliferative Anaemia
|
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Toxic Anaemia
|
Toxic Aplastic Anaemia
|
|
Aplastic Anaemia Due To Toxic Cause
|
Idiopathic Aplastic Anaemia Nos
|
|
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| Fanconi Anemia, Complementation Group A |
|
Fanconi Anemia
|
Fanconi Pancytopenia
|
|
Fanconi Anemia Complementation Group A
|
FANCA
|
|
Fa
|
Fanconi Panmyelopathy
|
|
Fanconi'S Anemia
|
Fanconi Anaemia
|
|
Fanconi'S Anaemia
|
Fanconi Hypoplastic Anemia
|
|
Estren-Dameshek Variant Of Fanconi Anemia
|
Estren-Dameshek Variant Of Fanconi Pancytopenia
|
|
Fanconi Anemia Estren-Dameshek Variant
|
Fanconis Anemia
|
|
|
| Hereditary Breast Ovarian Cancer Syndrome |
|
Hereditary Breast And Ovarian Cancer Syndrome
|
Brca1- And Brca2-Associated Hereditary Breast And Ovarian Cancer
|
|
Breast And/Or Ovarian Cancer
|
Breast And Ovarian Cancer Syndrome
|
|
Hboc Syndrome
|
Hereditary Breast And Ovarian Cancer
|
|
Brca1- Brca2-Associated Hboc
|
|
|
