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DOGMA Premium Comprehensive Test
※ Click on the disease name to see a detailed description of the genes and diseases involved.
Category
Disease
병명
Mouth
Familial Enamel Hypoplasia
법랑질 저형성
Open
Digestive System
Gallbladder Mucoceles
담낭 점액종
Open
Digestive System
Intestinal Cobalamin (vitamin B12) Malabsorption
장 코발라민 흡수장애
Open
Medication
Multidrug Sensitivity
다중 약물 내성
Open
Ear
Deafness
난청
Open
Liver
Glycogen Storage Disease Type Ia
글리코겐 저장병 1a형
Open
Liver
Glycogen Storage Disease Type IIIa
글리코겐 저장병 3a형
Open
Brain
Necrotizing Encephalopathy
괴사성 뇌병증
Open
Brain
Narcolepsy
기면증
Open
Brain
Leukodystrophy
백질이영양증
Open
Brain
Neonatal encephalopathy with seizures
신생아 뇌병증성 경련증
Open
Brain
Alexander Disease
알렉산더병
Open
Brain
Spinocerebellar Ataxia
척수소뇌성 운동실조증
Open
Brain
Spinocerebellar Ataxia with Myokymia and/or Seizures
근육경련을 동반한 척수소뇌성 운동실조증
Open
Brain
Krabbe Disease
크라베병
Open
Nervous System
Hereditary Sensory and Autonomic Neuropathy, HSAN
유전성 감각 및 자율 신경병증
Open
Nervous System
Leonberger Polyneuropathy
레온베르거 다발성 신경병증
Open
Nervous System
Polyneuropathy
말초신경병증
Open
Nervous System
Neuronal Ceroid Lipofuscinosis type I
신경 세로이드 리포푸신증 1형
Open
Nervous System
Neuronal Ceroid Lipofuscinosis type V
신경 세로이드 리포푸신증 5형
Open
Nervous System
Neuronal Ceroid Lipofuscinosis type VII
신경 세로이드 리포푸신증 7형
Open
Nervous System
Degenerative Myelopathy
퇴행성 골수염
Open
Nervous System
Sensory Ataxic Neuropathy
감각 운동실조 신경병증
Open
Nervous System
Paroxysmal Dyskinesia
발작성 운동이상증
Open
Nervous System
Epilepsy
뇌전증
Open
Lungs
Interstitial Lung Disease
간질성 폐질환
Open
Lungs
Primary Ciliary Dyskinesia
원발성 섬모 운동 이상증
Open
Lungs
Airway Distress Syndrome
기도 곤란 증후군
Open
Hormones
Congenital Hypothyroidism
선천성 갑상선 기능 저하증
Open
Hormones
Congenital Dyshormonogenic Hypothyroidism with Goiter
갑상선 종을 동반한 선천성 갑상선 기능 저하증
Open
Metabolism
Lysosomal Storage Disease
리소좀 축적 질환
Open
Metabolism
Mucopolysaccharidosis VII
점액다당류증 7형
Open
Metabolism
Fucosidosis
푸코사이드 축적증
Open
Metabolism
Gangliosidosis, GM1
GM1 강글리오시드증
Open
Metabolism
Gangliosidosis, GM2
GM2 강글리오시드증 2형
Open
Metabolism
Copper Toxicosis
구리 중독증
Open
Metabolism
Menkes Disease
멘케스병
Open
Muscles
Myotonia
근긴장증
Open
Muscles
X-Linked Myotubular Myopathy
X-염색체 연관 근세관성 근병증
Open
Muscles
Duchenne Muscular Dystrophy
근이영양증
Open
Muscles
Glycogen Storage Disease Type II
글리코겐 저장병 2형
Open
Muscles
Glycogen Storage Disease Type VII
글리코겐 저장병 7형
Open
Muscles
Inflammatory Myopathy
염증성 근육병증
Open
Muscles
Exercise-Induced Collapse
운동 유발성 허탈증
Open
Muscles
Limb Girdle Muscular Dystrophy
지대형 근위축증
Open
Muscles
Malignant Hyperthermia
악성 고열증
Open
Immune System
Severe Combined Immunodeficiency
중증 복합면역결핍증
Open
Complex
Anhidrotic Ectodermal Dysplasia
무한성 외배엽 이형성증
Open
Complex
Renal Cystadenocarcinoma and Nodular Dermatofibrosis
신장 낭샘암종과 결정상 피부섬유증
Open
Complex
Ehlers-Danlos syndrome
엘러스-단로스 증후군
Open
Complex
Pyruvate Dehydrogenase Deficiency
탈수소효소 피루브산염 결핍증
Open
Skin
Verrucous Keratinocytic Epidermal Nevus
사마귀모양 표피모반
Open
Skin
Ichthyosis
어린선
Open
Skin
Hereditary Footpad Hyperkeratosis
유전성 발바닥 과각질화
Open
Skin
Hereditary Nasal Parakeratosis
유전성 코 과각화증
Open
Skin
Dystrophic Epidermolysis Bullosa
이영양형 수포성 표피박리증
Open
Skin
Epidermolytic Hyperkeratosis
표피용해성 과각화증
Open
Eyes
Congenital Stationary Night Blindness
선천성 야맹증
Open
Eyes
Primary Open-Angle Glaucoma
원발성 개방각 녹내장
Open
Eyes
Primary Lens Luxation
원발성 수정체 탈구
Open
Eyes
Cone Degeneration
원추 변성
Open
Eyes
Hereditary Cataracts
유전성 백내장
Open
Eyes
Progressive Rod-cone Degeneration
진행성 망막 위축증 prcd 타입
Open
Eyes
Progressive Retinal Atrophy
진행성 망막 위축증
Open
Eyes
Cone-rod Dystrophy 2
콘-로드 이영양증 2형
Open
Eyes
Collie Eye Anomaly
콜리 안구 기형
Open
Eyes
Day Blindness
주간 시각 상실증
Open
Eyes
Primary Closed‐Angle Glaucoma
원발성 폐쇄각 녹내장
Open
Eyes
Congenital Eye Malformation
선천성 안구 기형
Open
Eyes
Achromatopsia
색맹
Open
Eyes
Macular Corneal Dystrophy
반점 각막 이상증
Open
Blood
Thrombocytopenia
혈소판 감소증
Open
Blood
Hereditary Elliptocytosis
유전성 타원형 적혈구증
Open
Blood
Methemoglobinemia
메트헤모글로빈혈증
Open
Blood
Trapped Neutrophil Syndrome
유전성 호중구 감소증
Open
Blood
Factor VII Deficiency (Hemophilia A)
제7인자 결핍증
Open
Blood
Factor VIII Deficiency (Hemophilia A)
제8인자 결핍증
Open
Blood
Factor IX Deficiency (Hemophilia B)
제9인자 결핍증
Open
Blood
Von Willebrand Disease Type I
폰 빌레브란트병 1형
Open
Blood
Von Willebrand Disease Type II
폰 빌레브란트병 2형
Open
Blood
Von Willebrand Disease Type III
폰 빌레브란트병 3형
Open
Blood
Prekallikrein Deficiency
프리칼리크레인 결핍증
Open
Blood
Pyruvate Kinase Deficiency
피루브산염 카이네이스 결핍증
Open
Blood
Thrombopathia
혈소판병증
Open
Kidneys
Hyperuricosuria
고요산뇨증
Open
Kidneys
Polycystic Kidney Disease
다낭포성 신장병
Open
Kidneys
Cystinuria Type I-A
시스틴뇨증 1A형
Open
Kidneys
Cystinuria Type II-A
시스틴뇨증 2A형
Open
Kidneys
Cystinuria Type II-B
시스틴뇨증 2B형
Open
Kidneys
Hereditary Nephropathy
유전성 신장병증
Open
Kidneys
X-Linked Hereditary Nephropathy
X-염색체 연관 선천성 신장병
Open
Kidneys
Urolithiasis
요석증
Open
Kidneys
Protein Losing Nephropathy
단백 소실성 신장병증
Open
Hearts
Dilated Cardiomyopathy
확장성 심근병증
Open
Bones & Joints
Skeletal Dysplasia 2
골이형성증 2형
Open
Bones & Joints
Osteogenesis Imperfecta
불완전 골형성증
Open
Bones & Joints
Hereditary Vitamin D-Resistant Rickets
비타민 D 결핍
Open
Bones & Joints
Achondroplasia and Intervertebral Disc Disease (IVDD)
연골 이형성증 및 추간판 질환
Open
Bones & Joints
Chondrodysplasia
연골이영양증
Open
COUNT
99