疾病名称 |
别名 |
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Neuropathy, Congenital Hypomyelinating, 1, Autosomal Recessive |
Charcot-Marie-Tooth Disease Type 4
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Charcot-Marie-Tooth Disease Type 4e
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Hereditary Motor And Sensory Neuropathy
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Cmt4e
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CHN1
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Hypomyelinating Neuropathy, Congenital, 1
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Charcot-Marie-Tooth Neuropathy Type 4e
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Neuropathy, Congenital Hypomyelinating, 1
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Ar-Cmt1
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Autosomal Recessive Demyelinating Charcot-Marie-Tooth
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Cmt4
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Neuropathy, Congenital Hypomyelinating Or Amyelinating, Autosomal Recessive
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Hypomyelination, Severe Congenital
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Charcot-Marie-Tooth Disease, Type 4e
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Charcot-Marie-Tooth Neuropathy, Type 4e
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Autosomal Recessive Congenital Hypomyelinating Or Amyelinating Neuropathy
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Autosomal Recessive Congenital Hypomyelinating Neuropathy
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Congenital Amyelinating Neuropathy
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Congenital Hypomyelinating Neuropathy Autosomal Recessive
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Neuropathy, Congenital Hypomyelinating Or Amyelinating
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Severe Congenital Hypomyelination
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Hereditary Sensory Motor Neuropathy
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Charcot-Marie-Tooth Disease, Demyelinating, Autosomal Recessive
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Neuropathy, Hypomyelinating, Congenital, Type 1
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Neuropathy, Motor And Sensory, Hereditary
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Congenital Hypomyelinating Neuropathy
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Hereditary Motor And Sensory Neuropathies
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Hereditary Sensorimotor Neuropathy
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Hmsn - [Hereditary Motor And Sensory Neuropathy]
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Hsmn - [Hereditary Sensory And Motor Neuropathy]
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Hereditary Motor And Sensory Neuropathy, Types I-Iv
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Charcot-Marie-Tooth Disease, Demyelinating, Type 1d |
Charcot-Marie-Tooth Disease Type 1d
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CMT1D
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Hmsn Id
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Hmsn1d
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Charcot-Marie-Tooth Disease, Type 1d
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Hereditary Motor And Sensory Neuropathy 1d
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Charcot-Marie-Tooth Neuropathy Type 1d
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Charcot-Marie-Tooth Neuropathy, Type 1d
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Charcot-Marie-Tooth Disease 1d
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Charcot-Marie-Tooth Disease Demyelinating Type 1d
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Hereditary Motor And Sensory Neuropathy Id
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Charcot-Marie-Tooth Disease, Type Id
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Hypertrophic Neuropathy Of Dejerine-Sottas |
Dejerine-Sottas Disease
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Dejerine-Sottas Syndrome
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Charcot-Marie-Tooth Disease Type 3
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DSS
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Hereditary Motor And Sensory Neuropathy Type Iii
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Hmsn3
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Dejerine-Sottas Neuropathy
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Hmsn Iii
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Charcot-Marie-Tooth Disease, Type 3
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Cmt3
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Dsn
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Hmsn 3
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Hereditary Motor And Sensory Neuropathy Type 3
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Hereditary Motor And Sensory Neuropathy 3
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Hypertrophic Neuropathy Of Infancy
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Charcot-Marie-Tooth Disease Demyelinating Type 4f
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Charcot-Marie-Tooth Disease Type 4f
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Charcot-Marie-Tooth Neuropathy Type 4f
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Cmt4f
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Hereditary Motor And Sensory Neuropathy Iii
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Charcot-Marie-Tooth Disease, Demyelinating, Type 4f
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Charcot-Marie-Tooth Disease And Deafness |
Charcot-Marie-Tooth Disease Type 1e
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CMT1E
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Charcot-Marie-Tooth Disease Type 1
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Hereditary Motor And Sensory Neuropathy Type 1
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Charcot-Marie-Tooth Disease, Demyelinating, Type 1e
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Charcot-Marie-Tooth Disease, Type I
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Charcot-Marie-Tooth Neuropathy And Deafness, Autosomal Dominant
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Charcot-Marie-Tooth Disease, Type 1e
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Charcot-Marie-Tooth Disease Demyelinating Type 1e
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Autosomal Dominant Demyelinating Charcot-Marie-Tooth Disease
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Cmt1
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Charcot-Marie-Tooth Neuropathy Type 1
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Autosomal Dominant Charcot-Marie-Tooth Neuropathy And Deafness
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Charcot-Marie-Tooth Disease-Deafness
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Charcot-Marie-Tooth Type 1
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Hmsn1
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Hereditary Motor And Sensory Neuropathy 1
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Cmt 1e
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Charcot Marie Tooth Disease Type 1e
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Charcot-Marie-Tooth Disease-Deafness Syndrome
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Charcot-Marie-Tooth Disease-Hearing Loss Syndrome
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Charcot-Marie-Tooth Disease 1e
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Charcot-Marie-Tooth Disease And Deafness Autosomal Dominant
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Charcot-Marie-Tooth Neuropathy Type 1e
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Charcot-Marie-Tooth Disease, Type Ie
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Hereditary Motor And Sensory Neuropathy Type I
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Tooth Disease |
Tooth Diseases
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Teeth Disease
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Tooth Disorders
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Neuropathy |
Peripheral Neuropathy
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Peripheral Neuropathies
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Charcot-Marie-Tooth Disease |
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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Sensory Peripheral Neuropathy |
Sensory Neuropathy
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Peripheral Sensory Neuropathy
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Hereditary Sensory And Autonomic Neuropathies
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Charcot-Marie-Tooth Disease, Demyelinating, Type 1a |
Charcot-Marie-Tooth Disease Type 1a
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CMT1A
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Charcot-Marie-Tooth Disease, Type Ia
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Hmsn1a
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Hereditary Motor And Sensory Neuropathy Ia
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Hmsn Ia
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Charcot-Marie-Tooth Neuropathy, Type 1a
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Charcot-Marie-Tooth Disease, Type 1a
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Charcot-Marie-Tooth Neuropathy Type 1a
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Hereditary Motor And Sensory Neuropathy 1a
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Microduplication 17p12
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Charcot-Marie-Tooth Disease, Autosomal Dominant, With Focally Folded Myelin Sheaths, Type 1a
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Autosomal Dominant Charcot-Marie-Tooth Disease With Focally Folded Myelin Sheaths Type 1a
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Cmt 1a
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Charcot Marie Tooth Disease Type 1a
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Hmsn 1a
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Charcot-Marie-Tooth Disease 1a
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Charcot-Marie-Tooth Disease Demyelinating Type 1a
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Charcot-Marie-Tooth Disease Slow Nerve Conduction Type Unlinked To Duffy
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Charcot-Marie-Tooth Disease, Demyelinating, Type 1b |
Charcot-Marie-Tooth Disease Type 1b
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CMT1B
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Hereditary Motor And Sensory Neuropathy Ib
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Hmsn Ib
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Hmsn1b
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Peroneal Muscular Atrophy
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Charcot-Marie-Tooth Disease, Type 1b
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Charcot-Marie-Tooth Disease Slow Nerve Conduction Type Linked To Duffy
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Charcot-Marie-Tooth Neuropathy Type 1b
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Charcot-Marie-Tooth Disease, Type Ib
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Hereditary Motor And Sensory Neuropathy I
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Hmsn I
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Hmsn1
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Charcot-Marie-Tooth Neuropathy, Type 1b
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Charcot-Marie-Tooth Disease, Slow Nerve Conduction Type, Linked To Duffy
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Charcot-Marie-Tooth Disease, Autosomal Dominant, With Focally Folded Myelin Sheaths, Type 1b
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Autosomal Dominant Charcot-Marie-Tooth Disease With Focally Folded Myelin Sheaths Type 1b
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Charcot-Marie-Tooth Disease 1b
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Charcot-Marie-Tooth Disease Demyelinating Type 1b
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Hmsn Type I
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Hereditary Motor And Sensory Neuropathy Type I
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Charcot-Marie-Tooth Disease
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Neuropathy, Hereditary, With Liability To Pressure Palsies |
Tomaculous Neuropathy
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Hereditary Neuropathy With Liability To Pressure Palsies
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HNPP
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Polyneuropathy, Familial Recurrent
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Neuropathy, Recurrent, With Pressure Palsies
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Current Pressure-Sensitive Neuropathy
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Familial Recurrent Polyneuropathy
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Heterozygous Microdeletion 17p11.2p12
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Potato-Grubbing Palsy
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Tulip-Bulb Digger'S Palsy
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Compression Neuropathy
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Entrapment Neuropathy
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Familial Pressure Sensitive Neuropathy
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Hereditary Motor And Sensory Neuropathy
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Hereditary Pressure Sensitive Neuropathy
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Inherited Tendency To Pressure Palsies
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Hereditary Liability To Pressure Palsies
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Nerve Compression Syndrome
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Entrapment Neuropathies
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Hereditary Motor And Sensory Neuropathies
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Charcot-Marie-Tooth Disease, Demyelinating, Type 1c |
Charcot-Marie-Tooth Disease Type 1c
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CMT1C
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Hmsn1c
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Hmsn Ic
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Charcot-Marie-Tooth Disease, Type 1c
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Charcot-Marie-Tooth Neuropathy Type 1c
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Cmt, Slow Nerve Conduction Type C
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Charcot-Marie-Tooth Neuropathy, Type 1c
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Neuropathy, Hereditary Motor And Sensory, Type Ic
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Cmt Slow Nerve Conduction Type C
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Neuropathy Hereditary Motor And Sensory Type 1c
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Charcot-Marie-Tooth Disease 1c
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Charcot-Marie-Tooth Disease Demyelinating Type 1c
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Hereditary Motor And Sensory Neuropathy Ic
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Charcot-Marie-Tooth Disease, Type Ic
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Charcot-Marie-Tooth Disease, Type 4a |
Charcot-Marie-Tooth Disease Type 4a
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CMT4A
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Charcot-Marie-Tooth Disease, Demyelinating, Autosomal Recessive, Type 4a
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Charcot-Marie-Tooth Neuropathy, Type 4a
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Autosomal Recessive Demyelinating Charcot-Marie-Tooth Disease Type 4a
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Charcot-Marie-Tooth Neuropathy Type 4a
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Charcot-Marie-Tooth Disease 4a
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Charcot-Marie-Tooth Disease Demyelinating Autosomal Recessive, Type 4a
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Charcot-Marie-Tooth Disease Neuropathy Type 4a
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Charcot-Marie-Tooth Disease, Axonal, Type 2e |
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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Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease |
Pcwh Syndrome
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PCWH
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Neurologic Waardenburg-Shah Syndrome
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Waardenburg-Shah Syndrome, Neurologic Variant
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Peripheral Demyelinating Neuropathy-Central Dysmyelinating Leukodystrophy-Hirschsprung Disease-Waardenburg Syndrome
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Peripheral Demyelinating Neuropathy-Central Dysmyelinating Leukodystrophy-Waardenburg Syndrome-Hirschsprung Disease
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Ws4 Plus
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Peripheral Demyelinating Neuropathy, Central Dysmyelinating Leukodystrophy, Waardenburg Syndrome And Hirschsprung Disease
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Waardenburg-Shah Syndrome Neurologic Variant
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Charcot-Marie-Tooth Disease, Axonal, Type 2j |
CMT2J
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Charcot-Marie-Tooth Disease, Type 2j
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Charcot-Marie-Tooth Disease Type 2j
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Charcot-Marie-Tooth Disease Type 2 With Hearing Loss And Pupillary Abnormalities
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Charcot-Marie-Tooth Neuropathy Type 2j
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Charcot-Marie-Tooth Neuropathy, Type 2j
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Charcot-Marie-Tooth Disease, Type 2, With Hearing Loss And Pupillary Abnormalities
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Autosomal Dominant Charcot-Marie-Tooth Disease Type 2j
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Charcot-Marie-Tooth Disease 2j
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Charcot-Marie-Tooth Disease Axonal Type 2j
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Charcot-Marie-Tooth Disease Neuronal Type 2j
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Charcot-Marie-Tooth Disease, Demyelinating, Type 4f |
Charcot-Marie-Tooth Disease Type 4f
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CMT4F
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Charcot-Marie-Tooth Disease, Type 4f
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Charcot-Marie-Tooth Disease 4f
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Charcot-Marie-Tooth Disease Demyelinating Autosomal Recessive 4f
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Charcot-Marie-Tooth Neuropathy Type 4f
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Dejerine-Sottas Disease
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Charcot-Marie-Tooth Disease, X-Linked Dominant, 1 |
CMTX1
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Cmtx
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Charcot-Marie-Tooth Disease X-Linked Dominant 1
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Charcot-Marie-Tooth Neuropathy, X-Linked Dominant, 1
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X-Linked Charcot-Marie-Tooth Disease
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Charcot-Marie-Tooth Peroneal Muscular Atrophy, X-Linked
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Cmt1x
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X-Linked Charcot-Marie-Tooth Disease Type 1
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X-Linked Hereditary Motor And Sensory Neuropathy
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Hereditary Motor And Sensory Neuropathy, X-Linked
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Hmsn, X-Linked
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Charcot-Marie-Tooth Neuropathy, X-Linked, 1
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Cmt2, Formerly
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Charcot-Marie-Tooth Neuropathy X-Linked Dominant 1
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Charcot-Marie-Tooth Neuropathy X-Linked 1
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Charcot-Marie-Tooth Peroneal Muscular Atrophy X-Linked
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Hereditary Motor And Sensory Neuropathy X-Linked
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Hmsn X-Linked
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Charcot-Marie-Tooth, X-Linked
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Charcot-Marie-Tooth Disease, X-Linked Dominant, Type 1
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Charcot-Marie-Tooth Disease, X-Linked, 1
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Polyneuropathy |
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Argyll Robertson Pupil |
Atypical Argyll-Robertson Pupil
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Argyll Robertson Phenomenon Or Pupil, Nonsyphilitic
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Argyll Robertson Pupil, Atypical
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Abnormal Pupillary Function |
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Charcot-Marie-Tooth Disease, Type 4c |
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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Demyelinating Polyneuropathy |
Peripheral Demyelinating Neuropathy
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Demyelinating Peripheral Neuropathy
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Charcot-Marie-Tooth Disease Type X |
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Charcot-Marie-Tooth Disease, Type 4d |
Charcot-Marie-Tooth Disease Type 4d
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CMT4D
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Hmsnl
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Hmsn4d
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Charcot-Marie-Tooth Neuropathy Type 4d
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Hereditary Motor And Sensory Neuropathy Lom Type
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Hmsn-Lom
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Neuropathy, Hereditary Motor And Sensory, Lom Type
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Charcot-Marie-Tooth Disease, Demyelinating, Autosomal Recessive, Type 4d
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Charcot-Marie-Tooth Neuropathy, Type 4d
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Autosomal Recessive Demyelinating Charcot-Marie-Tooth Disease Type 4d
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Hmsn Lom Type
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Hmsn, Lom Type
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Hereditary Motor And Sensory Neuropathy, Lom Type
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Charcot-Marie-Tooth Disease 4d
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Charcot-Marie-Tooth Disease Demyelinating Autosomal Recessive 4d
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Hereditary Motor And Sensory Neuropathy Ivd
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Hmsn Ivd
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Charcot-Marie-Tooth Disease, Type 4h |
Charcot-Marie-Tooth Disease Type 4h
|
CMT4H
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Charcot-Marie-Tooth Neuropathy Type 4h
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Charcot-Marie-Tooth Disease, Autosomal Recessive, Type 4h
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Charcot-Marie-Tooth Disease, Demyelinating, Autosomal Recessive, Type 4h
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Charcot-Marie-Tooth Neuropathy, Type 4h
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Autosomal Recessive Charcot-Marie-Tooth Disease Type 4h
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Autosomal Recessive Demyelinating Charcot-Marie-Tooth Disease Type 4h
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Charcot-Marie-Tooth Disease 4h
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Charcot-Marie-Tooth Disease Demyelinating Autosomal Recessive 4h
|
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Rett Syndrome |
Atypical Rett Syndrome
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RTT
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Rett Disorder
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Rts
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Autism, Dementia, Ataxia, And Loss Of Purposeful Hand Use
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Rett Syndrome, Preserved Speech Variant
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Rett Syndrome, Atypical
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Rett'S Disorder
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Rett Syndrome Variant
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Autism-Dementia-Ataxia-Loss Of Purposeful Hand Use Syndrome
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Cerebroatrophic Hyperammonemia
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Rett Like Syndrome
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Rett'S Syndrome
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Atypical Rtt
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Autism-Dementia-Ataxia-Loss Of Purposeful Hand Use
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Rett Syndrome Preserved Speech Variant
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Rett Syndrome Zappella Variant
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Rett Syndrome, Zappella Variant
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Plexiform Neurofibroma |
Neurofibroma Plexiform
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Neurofibroma, Plexiform
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Scoliosis |
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Charcot-Marie-Tooth Disease, X-Linked Recessive, 2 |
CMTX2
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Charcot-Marie-Tooth Disease X-Linked Recessive 2
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X-Linked Charcot-Marie-Tooth Disease Type 2
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Charcot-Marie-Tooth Neuropathy, X-Linked Recessive, 2
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Charcot-Marie-Tooth Neuropathy X-Linked Recessive 2
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Charcot-Marie-Tooth Disease, X-Linked Type 2, Recessive
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Charcot-Marie-Tooth Disease, Type 4b2 |
Charcot-Marie-Tooth Disease Type 4b2
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CMT4B2
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Charcot-Marie-Tooth Disease, With Focally Folded Myelin Sheaths, Autosomal Recessive, Type 4b2
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Charcot-Marie-Tooth Neuropathy, Type 4b2
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Charcot-Marie-Tooth Neuropathy Type 4b2
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Autosomal Recessive Charcot-Marie-Tooth Disease With Focally Folded Myelin Sheaths Type 4b2
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Cmt 4b2
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Charcot Marie Tooth Disease Type 4b2
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Charcot-Marie-Tooth Disease 4b2
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Charcot-Marie-Tooth Disease Autosomal Recessive With Focally Folded Myelin Sheaths 4b2
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Charcot-Marie-Tooth Disease Demyelinating Autosomal Recessive 4b2
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Congenital Central Hypoventilation Syndrome |
Cchs
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Haddad Syndrome
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Ondine Curse
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Ondine Syndrome
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Congenital Central Hypoventilation
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Congenital Central Alveolar Hypoventilation Syndrome
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Congenital Failure Of Autonomic Control
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Ondine'S Curse
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Primary Alveolar Hypoventilation
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Ondine-Hirschsprung Disease
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Central Congenital Hypoventilation Syndrome
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Congenital Ondine Curse
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Idiopathic Congenital Central Alveolar Hypoventilation
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Congenital Central Alveolar Hypoventilation-Hirschsprung Disease Syndrome
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Ondine-Hirschsprung Syndrome
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Neuromuscular Disease |
Neuromuscular Diseases
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Neuromuscular Disorders
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Neuromuscular Disorder
|
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Peripheral Nervous System Disease |
Peripheral Neuropathy
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Peripheral Nerve Disease
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Peripheral Nerve Disorders
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Neuropathy, Peripheral
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Peripheral Neuropathy Due To Vitamin Pyridoxine Hyperalimentation
|
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Hirschsprung Disease 1 |
Hirschsprung Disease
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Aganglionic Megacolon
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Hscr
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Hirschsprung'S Disease
|
Congenital Megacolon
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Congenital Intestinal Aganglionosis
|
Colonic Aganglionosis
|
Hirschsprung Disease, Susceptibility To, 1
|
Hirschsprung Disease, Protection Against
|
HSCR1
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Mgc
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Pelvirectal Achalasia
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Total Intestinal Aganglionosis
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Megacolon, Aganglionic
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Macrocolon
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Hscr 1
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Hirschsprung Disease Type 1
|
Hirschsprung Disease, Type 1
|
Congenital Dilatation Of Colon
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Aganglionosis
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Congenital Aganglionic Megacolon
|
Aganglionosis Of Colon
|
Bowel Aganglionosis
|
Colon Aganglionosis
|
Hirschsprung Megacolon
|
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