| 疾病名称 |
别名 |
|
| Retinal Arteries, Tortuosity Of |
|
Retinal Arterial Tortuosity
|
Retinal Hemorrhage With Vascular Tortuosity
|
|
RATOR
|
Tortuosity Of Retinal Arteries
|
|
Retinal Arteriolar Tortuosity
|
Familial Isolated Retinal Arterial Tortuosity
|
|
Tortuosity, Arteries, Retinal
|
|
|
| Angiopathy, Hereditary, With Nephropathy, Aneurysms, And Muscle Cramps |
|
Autosomal Dominant Familial Hematuria-Retinal Arteriolar Tortuosity-Contractures Syndrome
|
HANAC
|
|
Hereditary Angiopathy With Nephropathy, Aneurysms, And Muscle Cramps Syndrome
|
Hanac Syndrome
|
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Hereditary Angiopathy-Nephropathy-Aneurysms-Muscle Cramps Syndrome
|
Autosomal Dominant Familial Hematuria, Retinal Arteriolar Tortuosity, Contractures
|
|
Hereditary Angiopathy With Nephropathy, Aneurysm, And Muscle Cramps Syndrome
|
Hereditary Angiopathy With Nephropathy Aneurysms And Muscle Cramps
|
|
|
| Microangiopathy And Leukoencephalopathy, Pontine, Autosomal Dominant |
|
PADMAL
|
Dementia, Hereditary Multi-Infarct, Swedish Type
|
|
Pontine Autosomal Dominant Microangiopathy With Leukoencephalopathy
|
|
|
| Brain Small Vessel Disease 1 With Or Without Ocular Anomalies |
|
BSVD1
|
Gould Syndrome 1
|
|
Hemiplegia, Infantile, With Porencephaly
|
Brain Small Vessel Disease With Hemorrhage
|
|
Retinal Arteriolar Tortuosity, Infantile Hemiparesis, And Leukoencephalopathy, Autosomal Dominant
|
Brain Small Vessel Disease With Axenfeld-Rieger Anomaly
|
|
Leukoencephalopathy With Axenfeld-Rieger Anomaly
|
Porencephaly, Type 1, Formerly
|
|
T1p, Formerly
|
Porencephaly, Type 1, Autosomal Dominant, Formerly
|
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Adt1p, Formerly
|
Porencephaly 1, Formerly
|
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Poren1, Formerly
|
Brain Small Vessel Disease With Or Without Ocular Anomalies
|
|
Adt1p
|
Hemiplegia Infantile With Porencephaly Type 1
|
|
Poren1
|
Porencephaly 1
|
|
Porencephaly Type 1
|
Porencephaly Type 1 Autosomal Dominant
|
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T1p
|
Porencephaly, Familial
|
|
|
| Hemorrhage, Intracerebral |
|
Intracerebral Hemorrhage
|
Hemorrhagic Stroke
|
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ICH
|
Hemorrhage, Intracerebral, Susceptibility To
|
|
Stroke, Hemorrhagic
|
Stroke, Hemorrhagic, Susceptibility To
|
|
Brain Hemorrhage
|
|
|
| Cerebral Palsy |
|
Infantile Cerebral Palsy
|
Mixed Cerebral Palsy
|
|
Palsy Cerebral
|
Palsy, Cerebral
|
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Cerebral Palsy, Mixed
|
|
|
| Porencephaly |
|
|
| Col4a1-Related Disorders |
|
|
| Brain Small Vessel Disease 1 |
|
Col4a1-Related Brain Small Vessel Disease With Hemorrhage
|
Col4a1-Related Familial Vascular Leukoencephalopathy
|
|
Col4a1-Related Retinal Arteriolar Tortuosity-Infantile Hemiparesis-Autosomal Dominant Leukoencephalopathy Syndrome
|
Autosomal Dominant Retinal Arteriolar Tortuosity, Infantile Hemiparesis, And Leukencephalopathy
|
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Brain Small Vessel Disease With Axenfeld-Riegar Anomaly
|
Brain Small Vessel Disease With Hemorrhage
|
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Brain Small Vessel Disease With Or Without Ocular Anomalies
|
Bsvd1
|
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Infantile Hemiparesis
|
Leukoencephalopathy With Axenfeld-Riegar Anomaly
|
|
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| Familial Porencephaly |
|
Familial Porencephalic White Matter Disease
|
Autosomal Dominant Porencephaly Type 1
|
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Infantile Hemiplegia With Porencephaly
|
Porencephaly Type 1
|
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Porencephaly, Familial
|
|
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| Schizencephaly |
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Familial Schizencephaly
|
Acquired Schizencephaly
|
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SCHZC
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Schizencephalia
|
|
|
| Optic Nerve Hypoplasia, Bilateral |
|
Optic Nerve Hypoplasia
|
Bilateral Optic Nerve Hypoplasia
|
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Optic Nerve Hypoplasia, Familial Bilateral
|
Familial Bilateral Optic Nerve Hypoplasia
|
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Isolated Optic Nerve Hypoplasia/Aplasia
|
Optic Nerve Aplasia, Bilateral
|
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Onh
|
BONH
|
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Bilateral Optic Nerve Aplasia
|
Hypoplasia, Optic Nerve, Bilateral
|
|
|
| Walker-Warburg Syndrome |
|
Hard Syndrome
|
Walker-Warburg Congenital Muscular Dystrophy
|
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Cerebroocular Dysplasia-Muscular Dystrophy Syndrome
|
Cod-Md Syndrome
|
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Chemke Syndrome
|
Hydrocephalus, Agyria And Retinal Dysplasia
|
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Cerebroocular Dysgenesis
|
Cerebroocular Dysplasia Muscular Dystrophy Syndrome
|
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Hard +/- E Syndrome
|
Pagon Syndrome
|
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Warburg Syndrome
|
Hydrocephalus, Agyria, And Retinal Dysplasia
|
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Mddga
|
Muscular Dystrophy-Dystroglycanopathy , Type A
|
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Muscular Dystrophy-Dystroglycanopathy [With Brain And Eye Anomalies], Type A
|
Hydrocephalus-Agyria-Retinal Dysplasia Syndrome
|
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Wws
|
Dystrophy, Muscular, Dystroglycanopathy, Type A
|
|
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| Colpocephaly |
|
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| Brain Small Vessel Disease |
|
|
| Anterior Segment Dysgenesis |
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Anterior Segment Developmental Anomaly
|
Anterior Segment Mesenchymal Dysgenesis
|
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Corneal Opacification And Other Ocular Anomalies
|
Sclerocornea With Other Ocular Anomalies
|
|
Asmd
|
Asod
|
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Anterior Segment Ocular Dysgenesis
|
Foxe3-Related Ocular Disorder
|
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Familial Ocular Anterior Segment Mesenchymal Dysgenesis
|
Dysgenesis, Anterior Segment
|
|
Irido-Corneal Dysgenesis
|
Axenfeld-Rieger Syndrome, Type 3
|
|
|
| Cerebrovascular Disease |
|
Cerebrovascular Disorder
|
Cerebrovascular Accident
|
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Cerebrovascular Disorders
|
Cva
|
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Stroke
|
|
|
| Cakut |
|
Renal Or Urinary Tract Malformation
|
Congenital Anomalies Of Kidney And Urinary Tract
|
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Congenital Anomaly Of Kidney And Urinary Tract
|
Congenital Anomalies Of The Kidney And Urinary Tract
|
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Kidney And Urinary Tract, Anomalies, Congenital
|
Renal Hypodysplasia, Nonsyndromic, 1
|
|
|
| Anterior Segment Dysgenesis 1 |
|
Anterior Segment Mesenchymal Dysgenesis
|
Anterior Segment Dysgenesis 1, Multiple Subtypes
|
|
ASGD1
|
Asmd
|
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Anterior Segment Ocular Dysgenesis
|
Asod
|
|
Familial Ocular Anterior Segment Mesenchymal Dysgenesis
|
Ocular Anterior Segment Dysgenesis
|
|
Dysgenesis, Anterior Segment, Type 1
|
Axenfeld-Rieger Syndrome, Type 3
|
|
Irido-Corneal Dysgenesis
|
|
|
| Hydranencephaly |
|
|
| Hemiplegia |
|
Infantile Hemiplegia
|
Postnatal Infantile Hemiplegia
|
|
Hemiplegia, Infantile
|
|
|
| Alport Syndrome |
|
Hereditary Nephritis
|
Alport Syndrome, X-Linked
|
|
Hemorrhagic Hereditary Nephritis
|
Congenital Hereditary Hematuria
|
|
Hemorrhagic Familial Nephritis
|
Familial Nephritis
|
|
Thin Basement Membrane Disease
|
Thin Basement Membrane Nephropathy
|
|
Hematuria-Nephropathy-Deafness Syndrome
|
Hematuric Hereditary Nephritis
|
|
Hereditary Familial Congenital Hemorrhagic Nephritis
|
Hereditary Hematuria Syndrome
|
|
Hereditary Interstitial Pyelonephritis
|
Alport Deafness-Nephropathy
|
|
Alport Hearing Loss-Nephropathy
|
Alports Syndrome
|
|
Nephritis, Hereditary
|
|
|
| Spastic Hemiplegia |
|
Spastic Hemiplegic Cerebral Palsy
|
Hemiplegic Cerebral Palsy
|
|
Congenital Hemiplegia
|
Hemiplegic Infantile Cerebral Palsy
|
|
Cerebral Palsy Spastic Hemiplegic
|
Spastic Hemiplegia Cerebral Palsy
|
|
Hemiplegia, Spastic
|
|
|
| Vasculopathy, Retinal, With Cerebral Leukoencephalopathy And Systemic Manifestations |
|
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations
|
Crv
|
|
Rvcl
|
Rvcl-S
|
|
Vasculopathy, Retinal, With Cerebral Leukodystrophy
|
Retinopathy, Vascular, With Cerebral And Renal Involvement And Raynaud And Migraine Phenomena
|
|
Retinal Vasculopathy With Cerebral Leukodystrophy
|
Retinal Vasculopathy And Cerebral Leukoencephalopathy
|
|
Hereditary Vascular Retinopathy
|
Hvr
|
|
RVCLS
|
Cerebroretinal Vasculopathy, Hereditary
|
|
Cerebroretinal Vasculopathy
|
Herns
|
|
Vasculopathy, Retinal, With Cerebral Leukodystrophy, Formerly
|
Hereditary Cerebroretinal Vasculopathy
|
|
Hereditary Endotheliopathy, Retinopathy, Nephropathy, Stroke
|
Hereditary Systemic Angiopathy
|
|
Hsa
|
Retinal Vasculopathy With Cerebral Leukodystrophy With Systemic Manifestations
|
|
Adrvcl
|
Autosomal Dominant Retinal Vasculopathy With Cerebral Leukodystrophy
|
|
Hereditary Endotheliopathy With Retinopathy-Nephropathy-Stroke
|
Vascular Retinopathy With Cerebral And Renal Involvement And Raynaud And Migraine Phenomena
|
|
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| Brain Small Vessel Disease 3 |
|
|
| Brain Small Vessel Disease 2 |
|
Porencephaly 2
|
BSVD2
|
|
Gould Syndrome 2
|
Porencephaly 2, Formerly
|
|
Poren2, Formerly
|
Poren2
|
|
|
| Microcephaly |
|
Microencephaly
|
Microcephalus
|
|
Microcephalic
|
Nanocephaly
|
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Congenital Microcephaly
|
Brain Hypoplasia
|
|
Brain Nondevelopment
|
Cephalic Hypoplasia
|
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Undeveloped Cerebrum
|
Undeveloped Brain
|
|
Micrencephalon
|
Micrencephaly
|
|
|
| Phacolytic Glaucoma |
|
|
| X-Linked Alport Syndrome |
|
Nephropathy And Deafness, X-Linked
|
|
|
| Pseudo-Torch Syndrome 1 |
|
Pseudo-Torch Syndrome
|
Band-Like Calcification With Simplified Gyration And Polymicrogyria
|
|
Blcpmg
|
PTORCH1
|
|
Baraitser-Brett-Piesowicz Syndrome
|
Baraitser-Reardon Syndrome
|
|
Bilateral Band-Like Calcification With Polymicrogyria
|
Blc-Pmg
|
|
Microcephaly-Intracranial Calcification-Intellectual Disability Syndrome
|
Congenital Intrauterine Infection-Like Syndrome
|
|
Baraitser Brett Piesowicz Syndrome
|
Microcephaly - Intracranial Calcification - Intellectual Disability
|
|
|
| Peters-Plus Syndrome |
|
Krause-Kivlin Syndrome
|
Peters Plus Syndrome
|
|
Peters Anomaly
|
Irido-Corneo-Trabecular Dysgenesis
|
|
PTRPLS
|
Peters Anomaly With Short-Limb Dwarfism
|
|
Peters Anomaly-Short Limb Dwarfism Syndrome
|
Peters Anomaly With Short Limb Dwarfism
|
|
Peters Congenital Glaucoma
|
Krause-Van Schooneveld-Kivlin Syndrome
|
|
Peters' Plus Syndrome
|
Peters'-Plus Syndrome
|
|
Anomaly Peters
|
|
|
| Spastic Cerebral Palsy |
|
Palsy, Cerebral, Spastic
|
Infantile Hemiplegia Nos
|
|
Postnatal Infantile Hemiplegia Nos
|
Congenital Spastic Hemiplegia
|
|
Spastic Hemiplegic Cerebral Palsy
|
Congenital Hemiplegia Nos
|
|
Hemiplegic Cerebral Palsy
|
Hemiplegic Infantile Cerebral Palsy
|
|
|
| Combined Oxidative Phosphorylation Deficiency 13 |
|
COXPD13
|
Combined Oxidative Phosphorylation Defect Type 13
|
|
Combined Oxidative Phosphorylation Deficiency, Type 13
|
|
|
| Autosomal Recessive Alport Syndrome |
|
Alport Syndrome, Recessive Type
|
Alport Syndrome, Autosomal Recessive
|
|
Alport Syndrome Autosomal Recessive
|
Alport Syndrome Recessive Type
|
|
Nephropathy And Deafness
|
|
|
| Hematuria, Benign Familial |
|
Benign Familial Hematuria
|
BFH
|
|
Thin Membrane Nephropathy
|
Tmn
|
|
Thin Basement Membrane Nephropathy
|
Thin-Basement-Membrane Nephropathy
|
|
Hematuria, Familial Benign
|
Hematuria Benign Familial
|
|
Hematuria, Benign, Familial
|
Thin Basement Membrane Disease
|
|
|
| Keratoconus |
|
Kc
|
Conical Cornea
|
|
Noninflammatory Corneal Thining
|
Bulging Cornea
|
|
Cornea Conical
|
Acquired Conus Of Cornea
|
|
|
| Autosomal Dominant Alport Syndrome |
|
Alport Syndrome, Autosomal Dominant
|
Alport Syndrome Dominant Type
|
|
Renal Failure And Sensorineural Hearing Loss
|
Alport Syndrome, Dominant Type
|
|
|
| Aortic Valve Prolapse |
|
|
| Kidney Disease |
|
Renal Failure
|
Kidney Failure
|
|
Kidney Diseases
|
Nephropathy
|
|
Abnormality Of The Kidney
|
Impaired Renal Function Disease
|
|
Renal Anomaly
|
Kidney Dysfunction
|
|
Renal Disease
|
Nephropathies
|
|
Renal Failure Adverse Event
|
Abnormal Renal Function
|
|
|
| Cerebral Arteriopathy, Autosomal Dominant, With Subcortical Infarcts And Leukoencephalopathy, Type 1 |
|
Cadasil
|
Cerebral Autosomal Dominant Arteriopathy With Subcortical Infarcts And Leukoencephalopathy
|
|
Casil
|
Cerebral Arteriopathy With Subcortical Infarcts And Leukoencephalopathy
|
|
Familial Vascular Leukoencephalopathy
|
CADASIL1
|
|
Cadasil 1
|
Hereditary Multi-Infarct Dementia
|
|
Cadasil Syndrome
|
Dementia, Hereditary Multiinfarct Type
|
|
Cerebral Arteriopathy With Subcortical Infarcts And Leukoencephalopathy 1
|
Autosomal Dominant Cerebral Arteriopathy With Subcortical Infarcts And Leukoencephalopathy Type 1
|
|
Cerebral Autosomal Dominant Arteriopathy With Subcortical Infarcts Leukoencephalopathy
|
Dementia, Hereditary Multi-Infarct Type
|
|
Hereditary Dementia, Multi-Infarct Type
|
Cerebral Autosomal Dominant Arteriopathy-Subcortical Infarcts-Leukoencephalopathy
|
|
Cerebral Arteriopathy, Autosomal Dominant, With Subcortical Infarcts And Leukoencephalopathy, 1
|
Cerebral Arteriopathy With Subcortical Infarcts And Leukoencephalopathy, Autosomal Dominant
|
|
Dementia Hereditary Multiinfarct Type
|
Dementia Hereditary Multi-Infarct Type
|
|
Arteriopathy, Cerebral, Autosomal Dominant, With Subcortical Infarcts And Leukoencephalopathy
|
|
|
| Corneal Dystrophy, Posterior Polymorphous, 1 |
|
Posterior Polymorphous Corneal Dystrophy
|
Ppcd
|
|
Maumenee Corneal Dystrophy
|
Posterior Polymorphous Corneal Dystrophy 1
|
|
PPCD1
|
Corneal Dystrophy, Hereditary Polymorphous Posterior
|
|
Corneal Endothelial Dystrophy 1, Autosomal Dominant
|
Schlichting Dystrophy
|
|
Ched1
|
Corneal Endothelial Dystrophy 1, Autosomal Dominant, Formerly
|
|
Ched1, Formerly
|
Hereditary Polymorphus Posterior Corneal Dystrophy
|
|
Posterior Polymorphous Dystrophy
|
Hereditary Polymorphous Posterior Corneal Dystrophy
|
|
Dystrophy, Corneal, Posterior Polymorphous
|
Dystrophy, Corneal, Posterior Polymorphous, Type 1
|
|
Polymorphous Corneal Dystrophy
|
Corneal Endothelial Dystrophy 2
|
|
|
| Cataract |
|
Cataracts
|
Cat - [Cataract]
|
|
Cataract Form
|
Lens Opacity
|
|
Lens Opacities
|
|
|
| Axenfeld-Rieger Syndrome |
|
Axenfeld Syndrome
|
Rieger Syndrome
|
|
Rieger Anomaly
|
Axenfeld Anomaly
|
|
Anomaly, Rieger'S
|
Hagedoom Syndrome
|
|
Rgs - Rieger Syndrome
|
Rieger'S Anomaly
|
|
Goniodysgenesis Hypodontia
|
Iridogoniodysgenesis With Somatic Anomalies
|
|
Ars
|
Axenfeld And Rieger Anomaly
|
|
Axra
|
Axrs
|
|
Rieger Eye Malformation Sequence
|
|
|
| Colorectal Cancer |
|
Colon Cancer
|
Colorectal Carcinoma
|
|
Colon Carcinoma
|
Colorectal Cancer, Susceptibility To
|
|
Carcinoma Of Colon
|
CRC
|
|
Colorectal Cancer With Chromosomal Instability, Somatic
|
Colon Cancer, Somatic
|
|
Colon Cancer, Susceptibility To
|
Colonic Neoplasms
|
|
Colorectal Neoplasms
|
Colorectal Cancer, Somatic
|
|
Colon Cancer, Advanced, Somatic
|
Colonic Carcinoma
|
|
Colorectal Carcinomas
|
Colon Cancers
|
|
Colorectal Cancers
|
Cancer, Colorectal, Somatic
|
|
Cancer, Colon
|
Cancer, Colorectal, Susceptibility To
|
|
Colorectal Neoplasm
|
Colonic Neoplasm
|
|
Malignant Tumor Of Colon
|
|
|
| Cerebral Arteriopathy, Autosomal Dominant, With Subcortical Infarcts And Leukoencephalopathy, Type 2 |
|
CADASIL2
|
Cadasil 2
|
|
Autosomal Dominant Cerebral Arteriopathy With Subcortical Infarcts And Leukoencephalopathy Type 2
|
Htra1-Related Autosomal Dominant Cerebral Small Vessel Disease
|
|
Htra1-Related Autosomal Dominant Cerebral Angiopathy
|
Cerebral Arteriopathy, Autosomal Dominant, With Subcortical Infarcts And Leukoencephalopathy, 2
|
|
Cerebral Arteriopathy With Subcortical Infarcts And Leukoencephalopathy, Autosomal Dominant, 2
|
|
|
| Cerebral Degeneration |
|
Brain Degeneration
|
Degenerative Brain Disorder
|
|
|
| Amebiasis |
|
Amoebiasis
|
Entamoebiasis
|
|
Chronic Intestinal Amebiasis
|
Amoebiasis, Unspecified
|
|
Amebic Colitis
|
Amoebic Enteritis
|
|
Infection Due To Entamoeba Histolytica
|
Amoebic Infection
|
|
Disease Due To Endamoebidae
|
Amoebiasis Nos
|
|
|
| Ullrich Congenital Muscular Dystrophy 1 |
|
Ullrich Congenital Muscular Dystrophy
|
Ullrich Disease
|
|
Ucmd
|
Ullrich Scleroatonic Muscular Dystrophy
|
|
Scleroatonic Muscular Dystrophy
|
UCMD1
|
|
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 22
|
Lgmdr22
|
|
Muscular Dystrophy, Scleroatonic
|
Late Onset Scleroatonic Familial Myopathy
|
|
Congenital Muscular Dystrophy, Ullrich Type
|
|
|
| Meningioma, Familial |
|
Meningioma
|
Familial Meningioma
|
|
Meningioma, Familial, Susceptibility To
|
Meningeal Neoplasm
|
|
Meningeal Neoplasms
|
Meningiomas
|
|
Meningioma, Nf2-Related, Somatic
|
Meningioma, Sis-Related
|
|
Meningothelial Cell Tumor
|
Neoplasm Of The Meninges
|
|
Primary Meningeal Tumor
|
Familial Multiple Meningioma
|
|
MNGMA
|
Meningioma, Benign, No Icd-O Subtype
|
|
Intracranial Meningioma
|
Meningothelial Cell Neoplasm
|
|
Supratentorial Meningioma
|
Primary Neoplasm Of Spinal Meninges
|
|
Benign Intracranial Meningioma
|
Benign Meningioma
|
|
Meningeal Tumours
|
Meningeal Sarcoma Of Unspecified Site
|
|
Meningothelial Sarcoma Of Unspecified Site
|
|
|
| Ehlers-Danlos Syndrome |
|
Eds
|
Cutis Hyperelastica
|
|
Elastic Skin
|
Ehlers-Danlos Syndromes
|
|
Ed Syndrome
|
Ehlers Danlos Syndrome
|
|
Ehlers Danlos Disease
|
Eds - [Ehlers-Danlos Syndrome]
|
|
|
| Leukodystrophy |
|
|
| Patent Foramen Ovale |
|
Atrial Septal Defect Within Oval Fossa
|
Foramen Ovale Patent
|
|
Ostium Secundum Atrial Septal Defect
|
Atrial Septal Defect, Ostium Secundum Type
|
|
Foramen Ovale, Patent
|
Defect, Patent Or Persistent, Ostium Secundum
|
|
Ostium Secundum Type Atrial Septal Defect
|
Persistent Ostium Secundum
|
|
Asd Ostium Secundum Type
|
Ostium Secundum Asd
|
|
Osasd
|
Asd, Ostium Secundum Type
|
|
Pfo - [Patent Foramen Ovale]
|
Open Foramen Ovale
|
|
Open Oval Foramen
|
Persistent Foramen Ovale
|
|
Secundum Atrial Septal Defect
|
|
|
| Migraine With Or Without Aura 1 |
|
Migraine
|
Migraine With Or Without Aura, Susceptibility To, 1
|
|
Migraine Disorder
|
Migraine Variant
|
|
Migraines
|
Migraine Disorders
|
|
Mgr1
|
Mgau
|
|
Ma
|
Migraine With Or Without Aura
|
|
Classic Migraine
|
Common Migraine
|
|
Disorder, Migraine
|
Headache Migraine
|
|
Headache Migrainous
|
Migraine Headache
|
|
Migraine Syndrome
|
Headache Including Migraine
|
|
Migraine, Susceptibility To
|
|
|
| Congenital Nervous System Abnormality |
|
Congenital Neurologic Anomaly
|
Congenital Nervous System Disorder
|
|
|
