| 疾病名称 |
别名 |
|
| Macular Degeneration, Age-Related, 3 |
|
ARMD3
|
Neuropathy, Hereditary, With Or Without Age-Related Macular Degeneration
|
|
|
| Cutis Laxa, Autosomal Recessive, Type Ia |
|
ARCL1A
|
Cutis Laxa, Autosomal Recessive
|
|
Autosomal Recessive Cutis Laxa Type Ia
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Cutis Laxa, Autosomal Recessive, Type 1a
|
|
Arcl1
|
Cutis Laxa, Autosomal Recessive, 1a
|
|
Cl Type I
|
Cutis Laxa Autosomal Recessive Type I
|
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Cutis Laxa Autosomal Recessive Type Ia
|
Cutis Laxa, Autosomal Recessive, Type I
|
|
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| Charcot-Marie-Tooth Disease, Demyelinating, Type 1h |
|
Hereditary Motor And Sensory Neuropathy, Ih
|
Neuropathy, Hereditary, With Or Without Age-Related Macular Degeneration
|
|
CMT1H
|
Charcot-Marie-Tooth Neuropathy, Type 1h
|
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Hnarmd
|
Charcot-Marie-Tooth Disease, Demyelinating, 1h
|
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Macular Degeneration, Age-Related, 3
|
|
|
| Cutis Laxa, Autosomal Dominant 2 |
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ADCL2
|
Autosomal Dominant Cutis Laxa 2
|
|
Cutis Laxa, Autosomal Dominant, 2
|
Cutis Laxa, Autosomal Dominant, Type 2
|
|
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| Cutis Laxa, Autosomal Dominant 1 |
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Cutis Laxa, Autosomal Dominant
|
Autosomal Dominant Cutis Laxa
|
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ADCL1
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Adcl
|
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Autosomal Dominant Cutis Laxa 1
|
Cutis Laxa, Autosomal Dominant, 1
|
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Cutis Laxa, Autosomal Dominant, Type 1
|
|
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| Fbln5-Related Cutis Laxa |
|
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| Autosomal Recessive Cutis Laxa Type I |
|
Autosomal Recessive Cutis Laxa Type 1
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Cutis Laxa, Type 1
|
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Cutis Laxa, Autosomal Recessive, Type I
|
Cutis Laxa, Autosomal Recessive Type 1
|
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Cutis Laxa, Autosomal Recessive
|
Arcl1
|
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Autosomal Recessive Cutis Laxa With Severe Systemic Involvement
|
Autosomal Recessive Cutis Laxa, Pulmonary Emphysema Type
|
|
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| Hereditary Sensorimotor Neuropathy With Hyperelastic Skin |
|
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| Cutis Laxa |
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Generalized Elastolysis
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Loose Skin
|
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Dermatolysis
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Dermatomegaly
|
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Cutis Laxa Syndrome
|
|
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| Pelvic Organ Prolapse |
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Rectal Prolapse
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Pelvic Organ Prolapse, Susceptibility To, 1
|
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Pelvic Organ Prolapse, Susceptibility To
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Prolapse Of Vagina And Rectum
|
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Vaginal Prolapse
|
Pelvic Organ Prolapse 1
|
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Procidentia, Rectum
|
Prolapse Of Rectal Mucosa
|
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Procidentia Of Rectum
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Rectal Mucosa Prolapse
|
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Rectum Prolapse
|
Procidentia Rectum
|
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Rp - [Rectal Prolapse]
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Male Proctocele
|
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Male Rectocele
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Proctoptosis
|
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Female Genital Prolapse
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Female Prolapse
|
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Incompetence Of Pelvic Fundus
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Relaxation Of Perineum
|
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Deficiency Of Perineum
|
|
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| Aortic Aneurysm |
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Aortic Rupture
|
Thoracoabdominal Aortic Aneurysm, Ruptured
|
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Ruptured Aortic Aneurysm
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Aortic Aneurysms
|
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Aortic Aneurysm Without Mention Of Rupture Nos
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Ruptured Abdominal Aortic Aneurysm
|
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Aortic Aneurysm, Ruptured
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Ruptured Thoracic Aortic Aneurysm
|
|
|
| Supravalvular Aortic Stenosis |
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SVAS
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Supravalvar Aortic Stenosis
|
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Supravalvar Aortic Stenosis, Eisenberg Type
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Aortic Supravalvular Stenosis
|
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Aortic Stenosis, Supravalvular
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Supra-Valvular Aortic Stenosis
|
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Stenosis, Aortic Supravalvular
|
Stenosis, Supravalvular Aortic
|
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Supravalvular Stenosis, Aortic
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Aortic Stenosis Supravalvular
|
|
|
| Macs Syndrome |
|
Macrocephaly, Alopecia, Cutis Laxa, And Scoliosis
|
Mycobacterium Avium Complex Disease
|
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Rin2 Syndrome
|
Mycobacterium Avium-Intracellulare Infection
|
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Tall Forehead, Sparse Hair, Skin Hyperextensibility, And Scoliosis
|
Mycobacterium Avium Complex
|
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Mycobacterium Avium Infection
|
Infection Due To Mycobacterium Intracellulare
|
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Mac Disease
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Macrocephaly-Alopecia-Cutis Laxa-Scoliosis Syndrome
|
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Rin2 Deficiency
|
Tall Forehead-Sparse Hair-Skin Hyperextensibility-Scoliosis Syndrome
|
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MACS
|
Macrocephaly Alopecia Cutis Laxa And Scoliosis Syndrome
|
|
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| Inguinal Hernia |
|
Hernia Inguinal
|
Hernia, Inguinal
|
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Inguinal Hernias
|
Bubonocele
|
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Indirect Inguinal Hernia
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Direct Inguinal Hernia
|
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Oblique Inguinal Hernia
|
Scrotal Hernia
|
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Ih - [Inguinal Hernia]
|
|
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| Aortic Dissection |
|
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| Cutis Laxa, Autosomal Recessive, Type Ic |
|
Cutis Laxa With Severe Pulmonary, Gastrointestinal, And Urinary Abnormalities
|
ARCL1C
|
|
Urban-Rifkin-Davis Syndrome
|
Cutis Laxa With Severe Pulmonary, Gastrointestinal And Urinary Anomalies
|
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URDS
|
Autosomal Recessive Cutis Laxa Type Ic
|
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Autosomal Recessive Cutis Laxa Type 1c
|
Cutis Laxa With Severe Pulmonary Gastrointestinal And Urinary Abnormalities
|
|
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| Basal Laminar Drusen |
|
Drusen Of Bruch Membrane
|
Drusen, Cuticular
|
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Drusen, Early Adult-Onset, Grouped
|
Cuticular Drusen
|
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Early Adult-Onset Grouped Drusen
|
BLD
|
|
Drusen Cuticular
|
Drusen Early Adult-Onset Grouped
|
|
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| Cutis Laxa, Autosomal Recessive, Type Ib |
|
ARCL1B
|
Cutis Laxa, Autosomal Recessive, Type 1b
|
|
Autosomal Recessive Cutis Laxa Type Ib
|
Lethal Arteriopathy Syndrome Due To Fibulin-4 Deficiency
|
|
Cutis Laxa, Autosomal Recessive, 1b
|
Cutis Laxa Autosomal Recessive Type Ib
|
|
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| Macular Degeneration, Age-Related, 1 |
|
Macular Degeneration
|
Age-Related Macular Degeneration
|
|
Macular Degeneration, Age-Related
|
Age Related Macular Degeneration
|
|
Age Related Macular Degeneration 1
|
ARMD1
|
|
Senile Macular Degeneration
|
Maculopathy, Age-Related, 1
|
|
Macular Degeneration, Age-Related, Reduced Risk Of
|
Age Related Maculopathy 1
|
|
Age Related Maculopathies
|
Age Related Maculopathy
|
|
Senile Macular Retinal Degeneration
|
Macular Degeneration Of Retina
|
|
Age-Related Maculopathy
|
Amd
|
|
Armd
|
Age-Related Maculopathy, Susceptibility To
|
|
Maculopathy Age-Related
|
Macular Degeneration, Age-Related, 1, Susceptibility To
|
|
Maculopathy, Age-Related
|
Macular Degeneration, Age-Related, Type 1
|
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Macular Degeneration, Age-Related, 2
|
|
|
| Charcot-Marie-Tooth Disease Type 1g |
|
Pmp2-Related Charcot-Marie-Tooth Disease Type 1
|
Pmp2-Related Charcot-Marie-Tooth Neuropathy Type 1
|
|
Pmp2-Related Cmt1
|
Pmp2-Related Hereditary Motor And Sensory Neuropathy Type 1
|
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Cmt1g
|
|
|
| Doyne Honeycomb Retinal Dystrophy |
|
DHRD
|
Doyne Honeycomb Degeneration Of Retina
|
|
Dhd
|
Malattia Leventinese
|
|
Ml
|
Mlvt
|
|
Dystrophy, Retinal, Doyne Honeycomb
|
|
|
| Cutis Laxa, Autosomal Recessive, Type Iib |
|
ARCL2B
|
Cutis Laxa With Progeroid Features
|
|
Autosomal Recessive Cutis Laxa Type 2b
|
Autosomal Recessive Cutis Laxa Type Iib
|
|
Arcl2, Progeroid Type
|
Cutis Laxa, Autosomal Recessive Type 2b
|
|
Autosomal Recessive Cutis Laxa Type 2, Progeroid Type
|
Cutis Laxa, Autosomal Recessive, 2b
|
|
Cl Type Iib
|
Cutis Laxa Autosomal Recessive Type Iib
|
|
Cutis Laxa, Autosomal Recessive, Type 2b
|
|
|
| Autosomal Recessive Cutis Laxa Type Iii |
|
De Barsy Syndrome
|
Cutis Laxa-Corneal Clouding-Intellectual Disability Syndrome
|
|
Progeroid Syndrome, De Barsy Type
|
Corneal Clouding, Cutis Laxa And Intellectual Disability
|
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Cutis Laxa Growth Deficiency Syndrome
|
Progeroid Syndrome Of De Barsy
|
|
|
| Pneumothorax |
|
Pneumothorax Nos
|
Air Leak Nos
|
|
Pleural Air Leak Nos
|
|
|
| Cutis Laxa, Autosomal Recessive, Type Iia |
|
ARCL2A
|
Cutis Laxa With Joint Laxity And Retarded Development
|
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Cutis Laxa With Growth And Developmental Delay
|
Cutis Laxa, Debre Type
|
|
Cutis Laxa With Bone Dystrophy
|
Arcl2
|
|
Cutis Laxa With Congenital Disorder Of Glycosylation
|
Autosomal Recessive Cutis Laxa Type Iia
|
|
Cutis Laxa, Autosomal Recessive Type 2a
|
Cutis Laxa, Autosomal Recessive, 2a
|
|
Cl Type Iia
|
Cutis Laxa Autosomal Recessive Type Iia
|
|
|
| Retinal Drusen |
|
|
| Arterial Tortuosity Syndrome |
|
Arterial Tortuosity
|
Ats
|
|
ATORS
|
Tortuosity, Arterial, Syndrome
|
|
|
| Ureteric Orifice Cancer |
|
Malignant Neoplasm Of Ureteric Orifice Of Urinary Bladder
|
Malignant Tumor Of Ureteric Orifice
|
|
Orifice Of The Ureter
|
|
|
| Cardiomyopathy, Dilated, 1l |
|
Dilated Cardiomyopathy 1l
|
CMD1L
|
|
Cardiomyopathy, Dilated 1l
|
Cardiomyopathy, Dilated, Type 1l
|
|
|
| Autosomal Recessive Cutis Laxa Type Ii Classic Type |
|
Arcl2, Classic Type
|
Arcl2, Debre Type
|
|
Autosomal Recessive Cutis Laxa Type 2, Classic Type
|
Autosomal Recessive Cutis Laxa Type 2, Debre Type
|
|
|
| Occipital Horn Syndrome |
|
OHS
|
Eds Ix
|
|
Cutis Laxa X-Linked
|
Cutis Laxa, X-Linked
|
|
Cutis Laxa, X-Linked, Formerly
|
Ehlers-Danlos Syndrome, Occipital Horn Type, Formerly
|
|
Eds Ix, Formerly
|
Eds9, Formerly
|
|
Ehlers-Danlos Syndrome Type 9
|
Ehlers-Danlos Syndrome Type Ix
|
|
X-Linked Cutis Laxa
|
Ehlers-Danlos Syndrome, Occipital Horn Type
|
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Eds9
|
Ehlers-Danlos Syndrome Occipital Horn Type
|
|
|
| Geroderma Osteodysplasticum |
|
Gerodermia Osteodysplastica
|
Geroderma Osteodysplastica
|
|
GO
|
Walt Disney Dwarfism
|
|
Type Of Gerodermia Osteodysplastica
|
|
|
| Phacogenic Glaucoma |
|
|
| Ehlers-Danlos Syndrome, Vascular Type |
|
Eds Iv
|
Eds4
|
|
Vascular Ehlers-Danlos Syndrome
|
Veds
|
|
Sack-Barabas Syndrome
|
EDSVASC
|
|
Ehlers-Danlos Syndrome, Type Iv, Autosomal Dominant
|
Vascular Type Ehlers-Danlos Syndrome
|
|
Arterial-Ecchymotic Eds
|
Ehlers-Danlos Syndrome Type 4
|
|
Vascular Eds
|
Ehlers-Danlos Syndrome, Type 4
|
|
Ehlers-Danlos Syndrome, Type Iv
|
Ehlers-Danlos Syndrome, Arterial Type
|
|
Ehlers-Danlos Syndrome, Ecchymotic Type
|
Ehlers-Danlos Syndrome, Sack-Barabas Type
|
|
Autosomal Dominant Type Iv Ehlers-Danlos Syndrome
|
Eds Type Iv
|
|
Eds Type 4
|
Ehlers Danlos Syndrome, Sack-Barabas Type
|
|
Ehlers Danlos Syndrome, Arterial Type
|
Ehlers Danlos Syndrome, Ecchymotic Type
|
|
Ehlers-Danlos Syndrome Type Iv
|
Ehlers-Danlos Syndrome 4
|
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Ehlers-Danlos Syndrome Arterial Type
|
Ehlers-Danlos Syndrome Ecchymotic Type
|
|
Ehlers-Danlos Syndrome, Type 4 Variant
|
Ehlers-Danlos, Vascular Type Syndrome
|
|
|
| Bladder Diverticulum |
|
Diverticulum Of Bladder
|
Diverticulum - Bladder
|
|
Bladder Diverticula
|
Vesical Diverticulum
|
|
Bladder Sacculation
|
|
|
| Connective Tissue Disease |
|
Connective Tissue Diseases
|
Connective Tissue Disorder
|
|
Abnormality Of Connective Tissue
|
Disorder Of Connective Tissue
|
|
Connective Tissue Disorders
|
|
|
| Tibialis Tendinitis |
|
|
| Charcot-Marie-Tooth Disease And Deafness |
|
Charcot-Marie-Tooth Disease Type 1e
|
CMT1E
|
|
Charcot-Marie-Tooth Disease Type 1
|
Hereditary Motor And Sensory Neuropathy Type 1
|
|
Charcot-Marie-Tooth Disease, Demyelinating, Type 1e
|
Charcot-Marie-Tooth Disease, Type I
|
|
Charcot-Marie-Tooth Neuropathy And Deafness, Autosomal Dominant
|
Charcot-Marie-Tooth Disease, Type 1e
|
|
Charcot-Marie-Tooth Disease Demyelinating Type 1e
|
Autosomal Dominant Demyelinating Charcot-Marie-Tooth Disease
|
|
Cmt1
|
Charcot-Marie-Tooth Neuropathy Type 1
|
|
Autosomal Dominant Charcot-Marie-Tooth Neuropathy And Deafness
|
Charcot-Marie-Tooth Disease-Deafness
|
|
Charcot-Marie-Tooth Type 1
|
Hmsn1
|
|
Hereditary Motor And Sensory Neuropathy 1
|
Cmt 1e
|
|
Charcot Marie Tooth Disease Type 1e
|
Charcot-Marie-Tooth Disease-Deafness Syndrome
|
|
Charcot-Marie-Tooth Disease-Hearing Loss Syndrome
|
Charcot-Marie-Tooth Disease 1e
|
|
Charcot-Marie-Tooth Disease And Deafness Autosomal Dominant
|
Charcot-Marie-Tooth Neuropathy Type 1e
|
|
Charcot-Marie-Tooth Disease, Type Ie
|
Hereditary Motor And Sensory Neuropathy Type I
|
|
|
| Eye Disease |
|
Eye Diseases
|
Abnormality Of The Eye
|
|
Toxoplasma Oculopathy
|
|
|
| Plethora Of Newborn |
|
|
| 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
|
|
|
| Macular Degeneration, Age-Related, 4 |
|
Age Related Macular Degeneration 4
|
ARMD4
|
|
Macular Degeneration, Age-Related, Type 4
|
|
|
| Loeys-Dietz Syndrome |
|
Loeys-Dietz Aortic Aneurysm Syndrome
|
Lds
|
|
Aortic Aneurysm Syndrome Due To Tgf-Beta Receptors Anomalies
|
Furlong Syndrome
|
|
|
| Scoliosis |
|
|
| Wrinkly Skin Syndrome |
|
WSS
|
Wrinkled Skin Syndrome
|
|
|
| Aortic Aneurysm, Familial Thoracic 1 |
|
Thoracic Aortic Aneurysm
|
Annuloaortic Ectasia
|
|
Familial Thoracic Aortic Aneurysm And Aortic Dissection
|
Familial Aortic Dissection
|
|
Familial Taad
|
Familial Thoracic Aortic Aneurysm
|
|
Congenital Aneurysm Of Ascending Aorta
|
Familial Aortic Aneurysm
|
|
Familial Thoracic Aortic Aneurysm And Dissection
|
Aortic Aneurysm, Thoracic
|
|
AAT1
|
Faa1
|
|
Aortic Dissection, Familial
|
Aortic Aneurysm, Familial Thoracic
|
|
Aneurysm, Thoracic Aortic
|
Faa
|
|
Ftaad
|
Taa
|
|
Taad
|
Cystic Medial Necrosis Of Aorta
|
|
Familial Non-Syndromic Thoracic Aortic Aneurysm And Aortic Dissection
|
Aortic Aneurysm Thoracic
|
|
Familial Aortic Aneurysms
|
Aneurysm, Aortic, Thoracic, Familial, Type 1
|
|
Aneurysm Of Thoracic Aorta
|
Intrathoracic Aneurysm
|
|
Thoracic Aorta Aneurysm
|
Thoracic Aortic Aneurysm Without Rupture
|
|
Thoracic Aneurysm
|
Thorax Arterial Aneurysm
|
|
Thoracic Artery Aneurysm
|
Thoracic Arterial Aneurysm
|
|
Thorax Aneurysm
|
Thorax Aortic Aneurysm
|
|
Dissection Of Thoracic Aorta
|
|
|
| Neuropathy, Congenital Hypomyelinating, 1, Autosomal Recessive |
|
Charcot-Marie-Tooth Disease Type 4
|
Charcot-Marie-Tooth Disease Type 4e
|
|
Hereditary Motor And Sensory Neuropathy
|
Cmt4e
|
|
CHN1
|
Hypomyelinating Neuropathy, Congenital, 1
|
|
Charcot-Marie-Tooth Neuropathy Type 4e
|
Neuropathy, Congenital Hypomyelinating, 1
|
|
Ar-Cmt1
|
Autosomal Recessive Demyelinating Charcot-Marie-Tooth
|
|
Cmt4
|
Neuropathy, Congenital Hypomyelinating Or Amyelinating, Autosomal Recessive
|
|
Hypomyelination, Severe Congenital
|
Charcot-Marie-Tooth Disease, Type 4e
|
|
Charcot-Marie-Tooth Neuropathy, Type 4e
|
Autosomal Recessive Congenital Hypomyelinating Or Amyelinating Neuropathy
|
|
Autosomal Recessive Congenital Hypomyelinating Neuropathy
|
Congenital Amyelinating Neuropathy
|
|
Congenital Hypomyelinating Neuropathy Autosomal Recessive
|
Neuropathy, Congenital Hypomyelinating Or Amyelinating
|
|
Severe Congenital Hypomyelination
|
Hereditary Sensory Motor Neuropathy
|
|
Charcot-Marie-Tooth Disease, Demyelinating, Autosomal Recessive
|
Neuropathy, Hypomyelinating, Congenital, Type 1
|
|
Neuropathy, Motor And Sensory, Hereditary
|
Congenital Hypomyelinating Neuropathy
|
|
Hereditary Motor And Sensory Neuropathies
|
Hereditary Sensorimotor Neuropathy
|
|
Hmsn - [Hereditary Motor And Sensory Neuropathy]
|
Hsmn - [Hereditary Sensory And Motor Neuropathy]
|
|
Hereditary Motor And Sensory Neuropathy, Types I-Iv
|
|
|
| Ehlers-Danlos Syndrome |
|
Eds
|
Cutis Hyperelastica
|
|
Elastic Skin
|
Ehlers-Danlos Syndromes
|
|
Ed Syndrome
|
Ehlers Danlos Syndrome
|
|
Ehlers Danlos Disease
|
Eds - [Ehlers-Danlos Syndrome]
|
|
|
| Williams-Beuren Syndrome |
|
Williams Syndrome
|
WBS
|
|
Wms
|
Deletion 7q11.23
|
|
Monosomy 7q11.23
|
Chromosome 7q11.23 Deletion Syndrome, 1.5- To 1.8-Mb
|
|
Fanconi Schlesinger Syndrome
|
Beuren Syndrome
|
|
Elfin Facies Syndrome
|
Elfin Facies With Hypercalcemia
|
|
Hypercalcemia-Supravalvar Aortic Stenosis
|
Ws
|
|
|
| Fundus Dystrophy |
|
Retinal Dystrophy
|
Retinal Dystrophies
|
|
Dystrophy, Retinal
|
|
|
