疾病名称 |
别名 |
|
Cardiomyopathy, Dilated, 1gg |
Dilated Cardiomyopathy 1gg
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CMD1GG
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Cardiomyopathy, Dilated 1gg
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Cardiomyopathy, Dilated, Type 1gg
|
|
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Mitochondrial Complex Ii Deficiency, Nuclear Type 1 |
MC1DN2
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MC2DN1
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Succinate Coq Reductase Deficiency
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Succinate Dehydrogenase Deficiency
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Mitochondrial Complex I Deficiency, Nuclear Type 2
|
Mitochondrial Complex 1 Deficiency, Nuclear Type 2
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Nuclear Type Mitochondrial Complex I Deficiency 2
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Complex 2 Mitochondrial Respiratory Chain Deficiency
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Complex Ii Mitochondrial Respiratory Chain Deficiency
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Sdh-Defective Infantile Leukoencephalopathy
|
|
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Neurodegeneration With Ataxia And Late-Onset Optic Atrophy |
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Paragangliomas 5 |
PGL5
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Paragangliomas, Type 5
|
|
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Leigh Syndrome |
Leigh Disease
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Infantile Subacute Necrotizing Encephalopathy
|
Leigh Syndrome Due To Mitochondrial Complex Iv Deficiency
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LS
|
Sne
|
Leigh'S Disease
|
Leigh Syndrome Due To Mitochondrial Complex I Deficiency
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Necrotizing Encephalopathy, Infantile Subacute, Of Leigh
|
Subacute Necrotizing Encephalomyelopathy
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Necrotizing Encephalopathy Infantile Subacute Of Leigh
|
Leigh Syndrome Due To Mitochondrial Complex Iii Deficiency
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Infantile Necrotizing Encephalomyelopathy
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Juvenile Subacute Necrotizing Encephalomyelopathy
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Leigh'S Necrotizing Encephalopathy
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Subacute Necrotizing Encephalopathy
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Juvenile Subacute Necrotizing Encephalopathy
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Leigh Syndrome Due To Mitochondrial Complex Ii Deficiency
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Leigh Syndrome Due To Mitochondrial Complex V Deficiency
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Encephalopathy, Subacute Necrotizing, Infantile
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Encephalopathy, Subacute Necrotizing, Juvenile
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Maternally Inherited Leigh Syndrome
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Subacute Necrotising Encephalomyelopathy
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Subacute Necrotising Encephalopathy
|
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Mitochondrial Complex Ii Deficiency |
Isolated Mitochondrial Respiratory Chain Complex Ii Deficiency
|
Isolated Succinate-Coenzyme Q Reductase Deficiency
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Isolated Succinate-Coq Reductase Deficiency
|
Isolated Succinate-Ubiquinone Reductase Deficiency
|
Mitochondrial Respiratory Chain Complex Ii Deficiency
|
Complex 2 Mitochondrial Respiratory Chain Deficiency
|
Succinate Coq Reductase Deficiency
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Succinate Dehydrogenase Deficiency
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Isolated Succinate Dehydrogenase Deficiency
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Succinate-Coenzyme Q Reductase Deficiency
|
|
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Polymyoclonus, Infantile |
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Gastrointestinal Stromal Tumor |
GIST
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Gastrointestinal Stromal Tumors
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Gastrointestinal Stromal Sarcoma
|
Gastrointestinal Stromal Tumor, Familial
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Gant
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Gastrointestinal Stromal Tumour
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Stromal Tumor Of Gastrointestinal Tract
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Stromal Tumour Of Gastrointestinal Tract
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Gastrointestinal Stromal Neoplasm
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Paraganglioma And Gastric Stromal Sarcoma
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Plexosarcoma
|
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Otitis Media |
Opsoclonus-Myoclonus Syndrome
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OMS
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Otitis Media, Susceptibility To
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Kinsbourne Syndrome
|
Otitis Media, Chronic/Recurrent
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Come/Rom
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Ataxo-Opso-Myoclonus Syndrome
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Dancing Eye Syndrome
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Dancing Eye-Dancing Feet Syndrome
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Oma Syndrome
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Opsoclonus Myoclonus Syndrome
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Opsoclonus-Myoclonus-Ataxia Syndrome
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Poma Syndrome
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Paraneoplastic Opsoclonus-Myoclonus
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Paraneoplastic Opsoclonus-Myoclonus-Ataxia Syndrome
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Opsoclonus Myoclonus
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OM
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{Otitis Media, Susceptibility To}
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Infectious Otitis Media
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Paraganglioma |
Chemodectoma
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Glomus Body Tumor
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Paragangliomas
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Carotid Body Paraganglioma
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Extra-Adrenal Paraganglioma
|
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Pilocytic Astrocytoma |
Juvenile Pilocytic Astrocytoma
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Grade I Astrocytic Tumor
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Piloid Astrocytoma
|
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Paragangliomas 1 |
Carotid Body Tumor
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Paragangliomata
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Pgl
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Chemodectomas
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Carotid Body Tumors
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Glomus Jugulare Tumors
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Carotid Body Paraganglioma
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PGL1
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Cbt1
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Glomus Tumor
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Glomus Tumors Familial 1
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Paragangliomas Familial 1
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Glomus Jugulare Tumor
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Paragangliomas, Familial, 1
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Glomus Tumors, Familial, 1
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Paraganglioma, Carotid Body
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Paragangliomas, Familial Nonchromaffin, 1
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Paragangliomas 1, With Or Without Deafness
|
Cbt
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Paraganglioma - Glomus Jugulare
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Pgl 1
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Sdhd-Related Hereditary Paraganglioma-Pheochromocytoma Syndrome
|
Chemodectoma
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Familial Non-Chromaffin Paragangliomas 1
|
Familial Paragangliomas Non-Chromaffin 1 With Or Without Deafness
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Paraganglioma Carotid Body
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Paragangliomas, Type 1
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Paraganglioma
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Extra-Adrenal Paraganglioma
|
Glomus Tympanicum Tumor
|
|
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Pheochromocytoma |
Pheochromocytoma, Susceptibility To
|
Phaeochromocytoma
|
Adrenal Gland Chromaffin Paraganglioma
|
Adrenal Gland Chromaffinoma
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Adrenal Gland Paraganglioma
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Adrenal Gland Pheochromocytoma
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Chromaffin Paraganglioma Of The Adrenal Gland
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Intraadrenal Paraganglioma
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PCC
|
Chromaffin Cell Tumor
|
Medullary Chromaffinoma
|
Medullary Paraganglioma
|
Pheochromoblastoma
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Pheochromocytomas
|
Chromaffin Cell Neoplasm
|
Pheochromocytoma, Malignant
|
|
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Rhabdomyosarcoma |
|
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Hereditary Paraganglioma-Pheochromocytoma Syndromes |
Hereditary Pheochromocytoma-Paraganglioma
|
Hereditary Paraganglioma-Pheochromocytoma
|
Familial Pheochromocytoma-Paraganglioma
|
Paragangliomas 2
|
Paragangliomas 3
|
Paragangliomas 4
|
Sdhx-Related Paraganglioma-Pheochromocytoma
|
Familial Paraganglioma Syndrome
|
Familial Paraganglioma-Pheochromocytoma Syndromes
|
Fpgl
|
Fpgl/Pheo
|
Paragangliomas 1
|
Paraganglioma
|
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Leigh Syndrome With Leukodystrophy |
Infantile Subacute Necrotizing Encephalopathy With Leukodystrophy
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Leigh Disease With Leukodystrophy
|
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Bap1 Tumor Predisposition Syndrome |
Bap1-Related Tumor Predisposition Syndrome
|
Common Syndrome
|
Bap1 Cancer Syndrome
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Bap1-Tpds
|
Cutaneous/Ocular Melanoma, Atypical Melanocytic Proliferations, And Other Internal Neoplasms
|
Tumor Predisposition Syndrome
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Tumor Susceptibility Linked To Germline Bap1 Mutations
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Cutaneous/Ocular Melanoma, Atypical Melanocytic Proliferations, Other Internal Neoplasms
|
Tumor Predisposition
|
|
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Inherited Cancer-Predisposing Syndrome |
Hereditary Cancer-Predisposing Syndrome
|
|
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Familial Isolated Dilated Cardiomyopathy |
Familial Or Idiopathic Dilated Cardiomyopathy
|
|
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Carney Triad |
Gastric Leiomyosarcoma, Pulmonary Chondroma, And Extraadrenal Paraganglioma
|
|
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Graves Ophthalmopathy |
Graves Orbitopathy
|
Thyroid Associated Ophthalmopathy
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Thyroid Eye Disease
|
Thyroid-Associated Ophthalmopathy
|
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Neural Crest Tumor |
Neural Crest-Derived Tumors
|
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Hyperthyroidism |
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Barth Syndrome |
3-Methylglutaconic Aciduria Type 2
|
BTHS
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Cardioskeletal Myopathy With Neutropenia And Abnormal Mitochondria
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Mga Type Ii
|
Mga2
|
Mgca2
|
Mga Type 2
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3-Methylglutaconic Aciduria Type Ii
|
3-Methylglutaconic Aciduria, Type Ii
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Mga, Type Ii
|
3-Methylglutaconicaciduria Type 2
|
3-Methylglutaconicaciduria Type Ii
|
Taz Defect
|
3 Methylglutaconic Aciduria, Type Ii
|
Dnajc19 Defect
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Cardioskeletal Myopathy-Neutropenia Syndrome
|
X-Linked Cardioskeletal Myopathy And Neutropenia
|
3-Alpha-Methylglutaconic Aciduria Type 2
|
Agm2
|
Cardioskeletal Myopathy-Neutropenia
|
Invm
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Left Ventricular Non-Compaction Isolated X-Linked
|
Non-Compaction Of Left Ventricular Myocardium Isolated X-Linked
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Agammaglobulinemia 2, Autosomal Recessive
|
|
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Kearns-Sayre Syndrome |
Ophthalmoplegia
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Mitochondrial Cytopathy
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KSS
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Ophthalmoplegia, Pigmentary Degeneration Of Retina, And Cardiomyopathy
|
Oculocraniosomatic Syndrome
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Chronic Progressive External Ophthalmoplegia With Myopathy
|
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
|
Cpeo With Ragged-Red Fibers
|
Oculomotor Paralysis
|
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
|
Proximal Tubulopathy, Diabetes Mellitus And Cerebellar Ataxia
|
Cpeo With Ragged Red Fibers
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Ophthalmoplegia Plus Syndrome
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Ophthalmoplegia, Progressive External, With Ragged Red Fibers
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Kearns-Sayre Mitochondrial Cytopathy
|
Mitochondrial Myopathies
|
|
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Persistent Generalized Lymphadenopathy |
Pgl
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Persistant Generalized Lymphadenopathy
|
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Paraganglioma And Gastric Stromal Sarcoma |
Carney-Stratakis Syndrome
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Paraganglioma And Gastrointestinal Stromal Tumor
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Carney Dyad
|
Carney-Stratakis Dyad Of Paraganglioma And Gastric Stromal Sarcoma
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Paraganglioma And Gist
|
Carney-Stratakis Dyad
|
Gist-Paraganglioma Dyad
|
PGGSS
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Paraganglioma, Gastric Stromal Sarcoma
|
Gastrointestinal Stromal Tumors
|
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Leukodystrophy |
|
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Extra-Adrenal Pheochromocytoma |
Pheochromocytoma, Extra-Adrenal
|
|
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Chondroma |
Central Chondroma
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Enchondroma
|
|
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Gastric Leiomyosarcoma |
Leiomyosarcoma Of Stomach
|
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Lymph Node Disease |
Abnormality Of The Lymph Nodes
|
Disorder Of Lymph Node
|
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Fumarase Deficiency |
Fumaric Aciduria
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FMRD
|
Fumarate Hydratase Deficiency
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Deficiency, Fumarase
|
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Hashimoto Thyroiditis |
Autoimmune Thyroiditis
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Hashimoto Struma
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Hashimoto'S Thyroiditis
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Chronic Lymphocytic Thyroiditis
|
Lymphocytic Thyroiditis
|
Hashimoto Disease
|
Ht
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Hashimoto'S Disease
|
Hashimoto'S Syndrome
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Hypothyroidism, Autoimmune
|
Autoimmune Chronic Lymphocytic Thyroiditis
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Chronic Lymphocytic Thyroiditides
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Hashimoto Syndrome
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Hashimotos Thyroiditis
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Hashimoto Thyroiditis, Susceptibility To
|
Thyroiditis, Autoimmune
|
Lymphomatous Thyroiditis
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Lymphoid Thyroiditis
|
Chronic Lymphadenoid Thyroiditis
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Autoimmune Lymphocytic Chronic Thyroiditis
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Goitre Lymphomatosa
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Hashitoxicosis
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Hashimoto Hypothyroidism
|
Lymphadenoid Goitre
|
Struma Lymphomatosa
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Hyperthyroidism With Hashimoto Disease
|
Hashimoto Thyrotoxicosis
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Thyrotoxicosis Due To Hashimoto Thyroiditis
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Struma Lymphomatosis
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Lymphadenoid Struma
|
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Leiomyoma Cutis |
Cutaneous Leiomyoma
|
Leiomyoma Of The Skin
|
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Dermis Tumor |
Dermis Tumour
|
Neoplasm Of Dermis
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Tumor Of Dermis
|
Tumour Of Dermis
|
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Foster-Kennedy Syndrome |
Disorder Of The Optic Nerve
|
Optic Nerve Diseases
|
Disease Of Optic Cranial Nerve
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Disease Of Optic Nerve
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Disease Of Second Cranial Nerve
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Disorder Of Optic Cranial Nerve
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Disorder Of Second Cranial Nerve
|
Disorders Of 2nd Nerve
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Spastic Quadriplegia |
Spastic Quadriplegic Cerebral Palsy
|
Quadriplegic Infantile Cerebral Palsy
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Tetraplegic Infantile Cerebral Palsy
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Cerebral Palsy Spastic Quadriplegic
|
Quadriplegic Cerebral Palsy
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Spastic Quadriplegia Cerebral Palsy
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Spastic Tetraplegia Cerebral Palsy
|
Cerebral Palsy, Quadriplegic, Infantile
|
Cerebral Palsy With Spastic Tetraplegia
|
Congenital Spastic Quadriplegia
|
Spastic Tetraplegic Cerebral Palsy
|
Congenital Quadriplegia Nos
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Tetraplegic Cerebral Palsy
|
|
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Scrotum Melanoma |
|
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Malignant Pheochromocytoma |
Pheochromocytoma, Malignant
|
|
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Adrenal Medulla Cancer |
Adrenal Medulla Neoplasm
|
Adrenal Medulla Tumor
|
Malignant Neoplasm Of Adrenal Medulla
|
Malignant Tumor Of The Adrenal Medulla
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Adrenal Medulla Carcinoma
|
Neoplasm Of Adrenal Medulla
|
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Endocrine Organ Benign Neoplasm |
|
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Multiple Endocrine Neoplasia, Type Iia |
Multiple Endocrine Neoplasia Type 2a
|
Sipple Syndrome
|
Multiple Endocrine Neoplasia Type 2
|
MEN2A
|
Men2
|
Ptc Syndrome
|
Multiple Endocrine Neoplasia, Type 2
|
Multiple Endocrine Neoplasia Iia
|
Men 2a
|
Pheochromocytoma And Amyloid Producing Medullary Thyroid Carcinoma
|
Multiple Endocrine Neoplasia, Type 2a
|
Pheochromocytoma And Amyloid-Producing Medullary Thyroid Carcinoma
|
Multiple Endocrine Neoplasia Ii
|
Men2 Syndrome
|
Men-2a Syndrome
|
Multiple Neoplasia 2a
|
Multiple Neoplasia Type 2
|
|
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Myopathy |
Muscular Diseases
|
Myopathies
|
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Quadriplegia |
|
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Eye Disease |
Eye Diseases
|
Abnormality Of The Eye
|
Toxoplasma Oculopathy
|
|
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Cataract 38 |
CTRCT38
|
Catc5
|
Autosomal Recessive Congenital Cataract 5
|
Cataract, Autosomal Recessive Congenital 5
|
Cataract 38, Autosomal Recessive
|
Cataract, Type 38
|
|
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Mitochondrial Metabolism Disease |
Abnormality Of Mitochondrial Metabolism
|
Mitochondrial Diseases
|
|
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Infantile Cerebellar-Retinal Degeneration |
ICRD
|
Infantile Cerebellar Retinal Degeneration
|
Degeneration, Cerebellar-Retinal, Infantile
|
|
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Cardiomyopathy, Dilated, 1c, With Or Without Left Ventricular Noncompaction |
Left Ventricular Noncompaction 3
|
Dilated Cardiomyopathy 1c
|
CMD1C
|
Cardiomyopathy, Hypertrophic, 24
|
Dilated Cardiomyopathy With Left Ventricular Noncompaction
|
Cardiomyopathy, Dilated, 1c, With Or Without Lvnc
|
Cmdc1
|
Dilated Cardiomyopathy 1c With Or Without Left Ventricular Noncompaction
|
Cardiomyopathy, Dilated 1c, With Or Without Left Ventricular Non-Compaction
|
Cardiomyopathy Dilated With Left Ventricular Noncompaction
|
Cardiomyopathy, Familial Hypertrophic 24
|
CMH24
|
Left Ventricular Non-Compaction 3
|
LVNC3
|
Cardiomyopathy, Dilated 1c
|
Familial Hypertrophic Cardiomyopathy 24
|
Cardiomyopathy, Dilated, 1c
|
|
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3-Methylglutaconic Aciduria, Type Iii |
Optic Atrophy
|
3-Methylglutaconic Aciduria Type 3
|
Costeff Syndrome
|
Mga3
|
Costeff Optic Atrophy Syndrome
|
Optic Atrophy Plus Syndrome
|
Infantile Optic Atrophy With Chorea And Spastic Paraplegia
|
3-Methylglutaconic Aciduria Type Iii
|
Autosomal Recessive Optic Atrophy Plus Syndrome
|
Autosomal Recessive Optic Atrophy Type 3
|
Opa3 Defect
|
MGCA3
|
Mga, Type Iii
|
Iraqi Jewish Optic Atrophy Plus
|
Mga Type Iii
|
Optic Atrophy, Infantile, With Chorea And Spastic Paraplegia
|
Iraqi-Jewish 'Optic Atrophy Plus'
|
Optic Atrophy 3, Autosomal Recessive
|
Opa3, Autosomal Recessive
|
Opa3-Related 3-Methylglutaconic Aciduria
|
Iraqi-Jewish Optic Atrophy Plus
|
Atrophy Of Optic Disc
|
3-Alpha Methylglutaconic Aciduria Type Iii
|
Optic Atrophy 3
|
Optic Atrophy Infantile With Chorea And Spastic Paraplegia
|
Autosomal Recessive Opa3
|
Autosomal Recessive Optic Atrophy 3
|
3-Methylglutaconic Aciduria 3
|
3-Alpha-Methylglutaconic Aciduria Type 3
|
Optic Atrophy 3 Autosomal Recessive
|
Atrophy, Optic
|
Atrophy, Optic, Plus Syndrome
|
Optic Nerve Atrophy
|
Primary Optic Atrophy
|
Oa - [Optic Atrophy]
|
Second Cranial Nerve Atrophy
|
Second Cranium Nerve Atrophy
|
|
|
Complex Partial Epilepsy |
Epilepsy, Complex Partial
|
Complex Partial Epileptic Seizure
|
Epilepsy, Psychomotor
|
Psychomotor Epilepsy
|
|
|
Von Hippel-Lindau Syndrome |
Von Hippel-Lindau Disease
|
Vhl
|
Vhl Syndrome
|
VHLS
|
Von Hippel-Lindau Syndrome, Modifier Of
|
Hippel Lindau Syndrome
|
Angiomatosis Retinae
|
Cerebelloretinal Angiomatosis, Familial
|
Hippel-Lindau Disease
|
Familial Cerebelloretinal Angiomatosis
|
Lindau Disease
|
VHLD
|
|
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Spastic Paraplegia 38, Autosomal Dominant |
SPG38
|
Hereditary Spastic Paraplegia 38
|
Autosomal Dominant Spastic Paraplegia Type 38
|
Autosomal Dominant Spastic Paraplegia 38
|
|
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Myopathy, Lactic Acidosis, And Sideroblastic Anemia 3 |
|
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Gastric Liposarcoma |
Liposarcoma Of The Stomach
|
|
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Cerebral Angioma |
Hemangioma Of Cerebrum
|
Cerebral Hemangioma
|
|
|
Dystonia |
Dystonic Disease
|
Dystonic Disorder
|
Dystonia Disorders
|
Neuroleptic Dyskinesia
|
|
|
Neurofibromatosis, Type I |
Von Recklinghausen Disease
|
Neurofibromatosis 1
|
Neurofibromatosis, Type 1
|
NF1
|
Neurofibromatosis, Peripheral Type
|
Neurofibromatosis Type I
|
Neurofibromatosis Type 1 Due To Nf1 Mutation Or Intragenic Deletion
|
Familial Spinal Neurofibromatosis
|
Fsnf
|
Peripheral Neurofibromatosis
|
Von Recklinghausen'S Neurofibromatosis
|
Von Recklinghausen Disease Due To Nf1 Mutation Or Intragenic Deletion
|
Neurofibromatosis Peripheral Type
|
Von Recklinghausen Syndrome
|
Neurofibromatosis Type 1
|
Von Recklinghausen Neuropathy
|
Nf1 - [Neurofibromatosis Type 1]
|
Recklinghausen Disease
|
|
|
Mitochondrial Myopathy |
Mitochondrial Myopathies
|
Mitochondrial Cytopathy
|
Myopathies In Mitochondrial Disorders
|
|
|
Mitochondrial Complex I Deficiency, Nuclear Type 1 |
Mitochondrial Complex I Deficiency
|
Nadh:Q(1) Oxidoreductase Deficiency
|
MC1DN1
|
Nadh-Coenzyme Q Reductase Deficiency
|
Isolated Mitochondrial Respiratory Chain Complex I Deficiency
|
Isolated Nadh-Coenzyme Q Reductase Deficiency
|
Isolated Nadh-Coq Reductase Deficiency
|
Isolated Nadh-Ubiquinone Reductase Deficiency
|
Mitochondrial Nadh Dehydrogenase Component Of Complex I, Deficiency Of
|
Nuclear Type Mitochondrial Complex I Deficiency 1
|
Isolated Complex I Deficiency
|
Complex 1 Mitochondrial Respiratory Chain Deficiency
|
Nadh Coenzyme Q Reductase Deficiency
|
Complex I Mitochondrial Respiratory Chain Deficiency
|
Deficiency Of Mitochondrial Nadh Dehydrogenase Component Of Complex I
|
Nadh:Ubiquinone Oxidoreductase Deficiency
|
Complex I, Mitochondrial Respiratory Chain, Deficiency Of
|
|
|
Cowden Syndrome |
Cowden Disease
|
Multiple Hamartoma Syndrome
|
Cowden'S Disease
|
Lhermitte-Duclos Disease
|
Cd
|
Cs
|
Mham
|
Dysplastic Gangliocytoma Of Cerebellum
|
Cowden'S Syndrome
|
Hamartoma Syndrome, Multiple
|
|
|
Leber Hereditary Optic Neuropathy, Modifier Of |
Leber Optic Atrophy
|
Leber Hereditary Optic Neuropathy
|
LHON
|
Leber'S Hereditary Optic Neuropathy
|
Leber Optic Atrophy, Susceptibility To
|
Leber'S Optic Atrophy
|
LOAM
|
Loas
|
Leber'S Disease
|
Leber'S Optic Neuropathy
|
Optic Atrophy, Hereditary, Leber
|
Lhon, Modifier Of
|
Optic Atrophy, Leber Type
|
Hereditary Optic Neuroretinopathy
|
Leber Hereditary Optic Atrophy
|
Loa
|
Optic Atrophy Leber Type
|
Leber Hereditary Optic Neuropathy, Modifier
|
Leber Hereditary Optic Neuropathy Susceptibility
|
Modifier Of Leber Hereditary Optic Neuropathy
|
Lebers Hereditary Optic Neuropathy
|
Leber Congenital Amaurosis
|
|
|