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CATERING Premium Comprehensive Test
※ Click on the disease name to see a detailed description of the genes and diseases involved.
Category
Disease
병명
Bones & Joints
Osteochondrodysplasia
골연골이형성증
Open
Bones & Joints
Frontonasal Dysplasia
전두비골 이형성증
Open
Bones & Joints
Vitamin D-deficiency rickets, type IB
비타민 D 결핍
Open
Bones & Joints
Osteochondromatosis
골연골종증
Open
Hearts
Hypertrophic Cardiomyopathy (Overall)
비대성 심근증(종합)
Open
Kidneys
Polycystic Kidney Disease
다낭성 신장 질환
Open
Kidneys
Cystinuria, type B
시스틴뇨증 B형
Open
Kidneys
Cystinuria, type I
시스틴뇨증 1형
Open
Kidneys
Primary Hyperoxaluria type II (Oxalosis II)
고수산뇨증 2형
Open
Blood
Pyruvate Kinase Deficiency of Erythrocyte
피루브산염 카이네이스 결핍증
Open
Blood
Factor XII Deficiency
제12응고인자 결핍증
Open
Blood
Factor XI Deficiency
제11응고인자 결핍증
Open
Blood
Haemophilia B
혈우병 B
Open
Eyes
Glaucoma 3, Primary Congenita
원발성 선천성 녹내장 3
Open
Eyes
Progressive Retinal Atrophy(PRA) KIF3B
진행성 망막위축증 KIF3B 연관
Open
Eyes
Rod-Cone Dysplasia(PRA Rdy)
진행성 망막위축증 Rdy
Open
Eyes
Retinal Degeneration II (PRA rdAc)
진행성 망막위축증 rdAc
Open
Skin
Congenital Erythropoietic Porphyria
선천성 적혈구조혈성 포르피린증
Open
Complex
Porphyria, Acute Intermittent
급성 간헐성 포르피린증
Open
Complex
Ehlers-Danlos Syndrome
엘러스-단로스 증후군
Open
Immune System
Autoimmune Lymphoproliferative Syndrome
자가면역 림프증식 증후군
Open
Muscles
Hypokalaemic Periodic Paralysis
저칼륨혈증 주기성 마비
Open
Muscles
Muscular Dystrophy-dystroglycanopathy, Limb-girdle
지대형 근이영양증
Open
Muscles
Myotonia
근긴장증
Open
Muscles
Muscular Dystrophy, Becker type
근이영양증 베커형
Open
Muscles
Muscular Dystrophy, Duchenne type
근이영양증 듀시엔형
Open
Metabolism
Mucolipidosis II
점액지질증 II형
Open
Metabolism
Niemann-Pick Disease, type C1
니만-픽 병 C1형
Open
Metabolism
Mucopolysaccharidosis I
점액다당류증 I형
Open
Metabolism
Mucopolysaccharidosis VI
점액다당류증 VI형
Open
Metabolism
Mucopolysaccharidosis VII
점액다당류증 VII형
Open
Metabolism
Gangliosidosis, GM1
GM1 강글리오시드증
Open
Metabolism
Gangliosidosis, GM2 type II
GM2 강글리오시드증 샌드호프병
Open
Metabolism
Gangliosidosis, GM2 type AB
GM2 강글리오시드증 AB변이형
Open
Metabolism
Alpha-mannosidosis
알파 만노사이드 축적증
Open
Metabolism
Dihydropyrimidinase Deficiency
디하이드로피리미디나제 결핍증
Open
Hormones
Congenital Hypothyroidism
선천성 갑상선 기능 저하증
Open
Hormones
Congenital Adrenal Hyperplasia
선천성 부신증식증
Open
Medication
Multidrug Sensitivity 1, ABCB1-related
다중 약물 내성
Open
COUNT
39