Diseases |
Alias |
|
Homocystinuria-Megaloblastic Anemia, Cblg Complementation Type |
Methylcobalamin Deficiency, Cblg Type
|
HMAG
|
Methionine Synthase Deficiency
|
Methylcobalamin Deficiency Type Cblg
|
Homocystinuria-Megaloblastic Anemia Due To Defect In Cobalamin Metabolism, Cblg Complementation Type
|
Homocystinuria-Megaloblastic Anemia Cblg Type
|
Homocystinuria-Megaloblastic Anemia Due To Defect In Cobalamin Metabolism Cblg Complementation Type
|
Methylcobalamin Deficiency Cbl G Type
|
Homocystinuria Due To Defect In Methylation Cbl G
|
Cblg
|
Functional Methionine Synthase Deficiency Type Cblg
|
Methylcobalamin Deficiency Cblg Type
|
Arakawa Syndrome 2
|
|
|
Neural Tube Defects, Folate-Sensitive |
Neural Tube Defects, Folate-Sensitive, Susceptibility To
|
Neural Tube Defect, Folate-Sensitive
|
NTDFS
|
Ntd, Folate-Sensitive
|
Neural Tube Defects, Susceptibility To
|
Neural Tube Defects
|
|
|
Disorders Of Intracellular Cobalamin Metabolism |
|
|
Homocystinuria |
Cystathionine Beta Synthase Deficiency
|
Homocysteinemia
|
Cbs Deficiency
|
Cystathionine Synthase Deficiency
|
Cystathionine Beta-Synthase Deficiency Disease
|
|
|
Hyperhomocysteinemia |
|
|
Vitamin B12 Deficiency |
Cobalamin Deficiency
|
Hypocobalaminemia
|
Vitamin B 12 Deficiency
|
Cyanocobalamin Deficiency
|
Deficiency Of Vitamin B12
|
|
|
Neural Tube Defects |
Spina Bifida
|
Neural Tube Defect
|
NTD
|
Neural Tube Defects, Susceptibility To
|
Spinal Dysraphism
|
Spina Bifida, Susceptibility To
|
Rachischisis
|
Cleft Spine
|
Open Spine
|
Hydrocele Spinalis
|
Neural Tube Defect Nos
|
Sb - [Spina Bifida]
|
Spinal Hernia Nos
|
Spinal Fissure Nos
|
|
|
Megaloblastic Anemia |
Imerslund-Grasbeck Syndrome
|
Igs
|
Defect Of Enterocyte Intrinsic Factor Receptor
|
Enterocyte Cobalamin Malabsorption
|
Familial Megaloblastic Anemia
|
Megaloblastic Anemia 1
|
Selective Cobalamin Malabsorption With Proteinuria
|
Imerslund-Gräsbeck Syndrome
|
Anemia, Megaloblastic
|
Grasbeck-Imerslund Syndrome
|
Megaloblastic Anaemia
|
Mga1 Norwegian Type
|
Recessive Hereditary Megaloblastic Anaemia 1
|
Recessive Hereditary Megaloblastic Anemia 1
|
Rh-Mga1
|
Gräsbeck-Imerslund Disease
|
Pernicious Anemia, Juvenile, Due To Selective Intestinal Malabsorption Of Vitamin B12, With Proteinuria
|
Juvenile Pernicious Anemia With Proteinuria Due To Selective Intestinal Malabsorption Of Vitamin B12
|
Anemia Megaloblastic
|
Megaloblastic Anemia Due To Inborn Errors Of Metabolism
|
3-@Methylglutaconic Aciduria, Type I
|
|
|
Methylmalonic Acidemia |
Methylmalonic Aciduria
|
Mma
|
Acidemia, Methylmalonic
|
Isolated Methylmalonic Acidemia
|
|
|
Homocysteinemia |
|
|
Homocystinuria Due To Deficiency Of N -Methylenetetrahydrofolate Reductase Activity |
Homocystinuria Due To Mthfr Deficiency
|
Methylenetetrahydrofolate Reductase Deficiency
|
Mthfr Deficiency
|
Homocystinuria Due To Methylene Tetrahydrofolate Reductase Deficiency
|
5,10 Alpha Methylenetetrahydro-Folate Reductase Deficiency
|
5,10-Alpha-Methylenetetrahydro-Folate Reductase Deficiency
|
Homocysteinemia Due To Methylenetetrahydro-Folate Reductase Deficiency
|
Homocysteinuria Due To Methylenetetrahydro-Folate Reductase Deficiency
|
Methylenetetrahydro-Folate Reductase Deficiency
|
Methylene Tetrahydrofolate Reductase Deficiency
|
MTHFRD
|
5,10-Methylenetetrahydrofolate Reductase Deficiency
|
|
|
Vitamin Metabolic Disorder |
|
|
Epilepsy |
Epilepsy Syndrome
|
Epileptic Syndrome
|
Epilepsies
|
Symptomatic Epilepsies
|
Post Traumatic Epilepsy
|
Traumatic Epilepsy
|
Traumatic Epileptic
|
Epilepsy Due To Hippocampal Sclerosis
|
Epilepsy With Ammon'S Horn Sclerosis
|
Epilepsy Due To Cortical Dysplasia
|
Epilepsy Due To Neuronal Migration Disorders
|
|
|
Methylmalonic Aciduria And Homocystinuria, Cblc Type |
MAHCC
|
Vitamin B12 Metabolic Defect With Combined Deficiency Of Methylmalonyl-Coa Mutase And Homocysteine:Methyltetrahydrofolate Methyltransferase
|
Methylmalonic Aciduria And Homocystinuria, Cblc Type, Digenic
|
Methylmalonic Aciduria And Homocystinuria Type Cblc
|
Cobalamin C Disease
|
Methylmalonic Acidemia With Homocystinuria Cblc
|
Methylmalonic Acidemia And Homocystinuria, Cblc Type
|
Methylmalonic Aciduria And Homocystinuria, Vitamin B12-Responsive
|
Cobalamin C Deficiency
|
Methylmalonic Acidemia With Homocystinuria, Type Cblc
|
Cblc Defect
|
Cobalamin C Defect
|
Combined Defect In Adenosylcobalamin And Methylcobalamin Synthesis, Type Cblc
|
Methylmalonic Aciduria With Homocystinuria, Type Cblc
|
Methylmalonic Acidemia And Homocystinuria Cblc Type
|
Methylmalonic Aciduria And Homocystinuria Vitamin B12-Responsive
|
Aciduria, Methylmalonic, And Homocystinuria, Cblc Type
|
Methylmalonic Acidemia With Homocystinuria
|
|
|
Cerebrovascular Disease |
Cerebrovascular Disorder
|
Cerebrovascular Accident
|
Cerebrovascular Disorders
|
Cva
|
Stroke
|
|
|
Adult Acute Lymphocytic Leukemia |
Adult Acute Lymphoid Leukemia
|
Adult All
|
|
|
Cleft Lip |
Cheiloschisis
|
Labium Leporinum
|
Cleft Lip, Unilateral, Complete
|
Complete Unilateral Cleft Lip
|
Hare Lip
|
Congenital Fissure Of Lip
|
Isolated Cleft Lip
|
Cleft Lip Without Cleft Palate
|
Cleft Lip Without Cleft Palate, Unilateral
|
Isolated Cleft Lip, Unilateral
|
Cleft Lip Without Cleft Palate, Bilateral
|
Isolated Cleft Lip, Bilateral
|
|
|
Vascular Disease |
Vascular Diseases
|
Aneurysm
|
Spinal Cord Ischemia
|
Vascular Anomaly
|
Spinal Cord Vascular Diseases
|
Vascular Tissue Disease
|
|
|
Myelomeningocele |
|
|
Anencephaly |
Aprosencephaly
|
Anencephalus
|
Congenital Absence Of Brain
|
Absence Of A Large Part Of The Brain And The Skull
|
Anencephalia
|
Anencephalic Monster
|
Brain Absence
|
Brain Agenesis
|
Brain Aplasia
|
Absent Brain
|
Anencephalic
|
Congenital Absence Of Cerebrum
|
Congenital Hemicrania
|
Incomplete Anencephaly
|
|
|
Cecal Benign Neoplasm |
Cecal Neoplasms
|
Cecum Neoplasm
|
Neoplasm Of Caecum
|
Cecal Neoplasm
|
Cecum Carcinoma
|
Malignant Neoplasm Of Cecum
|
|
|
Cecum Adenoma |
|
|
Amino Acid Metabolic Disorder |
Amino Acid Metabolism, Inborn Errors
|
Inborn Errors Of Amino Acid Metabolism
|
Disorder Of Amino Acid Metabolism
|
Amino Acid Metabolism Disorders
|
|
|
Down Syndrome |
Trisomy 21
|
Complete Trisomy 21 Syndrome
|
Down'S Syndrome
|
Trisomy 21 Syndrome
|
Down'S Syndrome - Trisomy 21
|
Downs Syndrome
|
G Trisomy
|
47,Xx,+21
|
47,Xy,+21
|
Trisomy G
|
Down Syndrome, Susceptibility To
|
Chromosome 21 Trisomy
|
Trisomy 21 Nos
|
Abnormal Autosomes 21
|
|
|
Migraine With Aura |
Classic Migraine
|
Migraine With Typical Aura
|
Migraine Accompagnée
|
Complicated Migraine
|
Classical Migraine
|
Acute Migraine With Aura
|
|
|
Non-Syndromic X-Linked Intellectual Disability 1 |
Mrx1
|
Mrx18
|
Mrx78
|
X-Linked Mental Retardation 1/78
|
X-Linked Mental Retardation 18
|
|
|
Glutamate Formiminotransferase Deficiency |
Formiminoglutamic Aciduria
|
Formiminotransferase Deficiency
|
FIGLU-URIA
|
Arakawa Syndrome 1
|
Formiminoglutamic Acidemia
|
Formiminotransferase Cyclodeaminase Deficiency
|
Formiminotransferase Deficiency Syndrome
|
Ftcd Deficiency
|
Formiminoglutamicaciduria
|
Figluria
|
|
|
Methylmalonic Aciduria And Homocystinuria, Cblx Type |
Mental Retardation, X-Linked 3
|
Methylmalonic Acidemia With Homocystinuria, Type Cblx
|
MAHCX
|
Intellectual Developmental Disorder, X-Linked 3
|
Xlid3
|
Mrx3
|
Methylmalonic Acidemia And Homocysteinemia Cblx Type
|
Combined Defect In Adenosylcobalamin And Methylcobalamin Synthesis, Type Cblx
|
Methylmalonic Aciduria With Homocystinuria, Type Cblx
|
Methylmalonic Acidemia And Homocysteinemia, Cblx Type
|
Methylmalonic Aciduria And Homocysteinemia, Cblx Type
|
Methylmalonic Aciduria And Homocysteinemia , Cblx Type
|
Mental Retardation, X-Linked, Type 3
|
|
|
Pernicious Anemia |
Anemia, Pernicious
|
Anemia Pernicious
|
Pernicious Anaemia
|
Addison'S Anaemia
|
Biermer'S Anaemia
|
Biermer'S Anemia
|
Acquired Pernicious Anemia
|
Addison-Biermer Anemia
|
Addisonian Anemia
|
Biermer Anemia
|
Biermer'S Disease
|
Juvenile Onset Pernicious Anemia
|
Biermer Disease
|
Biermer-Addison Disease
|
|
|
Marfan Syndrome |
MFS
|
Mfs1
|
Marfan'S Syndrome
|
Marfan Syndrome Type 1
|
Marfan Syndrome, Type I
|
Mass Phenotype
|
Contractural Arachnodactyly
|
Mass Syndrome
|
Octd
|
Overlap Connective Tissue Disease
|
Marfanoid Hypermobility Syndrome
|
Marfan Disease
|
|
|
Heart Disease |
Heart Failure
|
Congenital Heart Disease
|
Heart Diseases
|
Congenital Heart Defects
|
Congenital Heart Defect
|
Heart Malformation
|
Congenital Anomaly Of Heart
|
Heart Defect
|
Heart-Congenital Defect
|
Congenital Heart Disorder
|
Heart Defects Congenital
|
Heart Defects, Congenital
|
Heart Defects
|
Heart Disease, Congenital
|
Disease, Heart, Congenital
|
Congestive Heart Failure
|
|
|
Ophthalmia Neonatorum |
Gonococcal Conjunctivitis
|
Gonococcal Ophthalmia Neonatorum
|
Neonatal Conjunctivitis
|
|
|
Methylmalonic Aciduria, Cbla Type |
Methylmalonic Acidemia Cbla Type
|
Methylmalonic Aciduria Cbla Type
|
Methylmalonic Acidemia, Cbla Type
|
Methylmalonic Aciduria, Vitamin B12-Responsive, Due To Defect In Synthesis Of Adenosylcobalamin, Cbla Type
|
Methylmalonic Aciduria, Vitamin B12-Responsive, Cbla Type
|
Methylmalonic Aciduria, Vitamin B12-Responsive Due To A Defect In Synthesis Of Adenosylcobalamin Cb1a Type
|
Vitamin B12-Responsive Methylmalonic Acidemia Type Cbla
|
Vitamin B12-Responsive Methylmalonic Aciduria Type Cbla
|
Methylmalonic Aciduria Type Cbla
|
MMAA
|
Methylmalonic Aciduria Type A
|
Vitamin B12 Responsive Methylmalonic Acidemia Type Cbl A
|
Vitamin B12 Responsive Methylmalonic Aciduria Type Cbl A
|
Aciduria, Methylmalonic, Cbla Type
|
Methylmalonic Aciduria Cbla Type
|
|
|
Hypermethioninemia |
Hepatic Methionine Adenosyltransferase Deficiency
|
Deficiency Of Methionine Adenosyltransferase
|
Glycine N-Methyltransferase Deficiency
|
Met
|
S-Adenosylhomocysteine Hydrolase Deficiency
|
Gnmt Deficiency
|
Mat Deficiency
|
Methionine Adenosyltransferase Deficiency
|
Methioninemia
|
Deficiency Of Acetyl-Coa Acetyltransferase
|
|
|
Cleft Palate, Isolated |
Cleft Palate
|
Isolated Cleft Palate
|
CPI
|
Cp
|
Palatoschisis
|
Cleft Palate Isolated
|
Uranostaphyloschisis
|
Congenital Fissure Of Palate
|
Cleft Of Secondary Palate
|
|
|
Organic Acidemia |
Organic Aciduria
|
Disorder Of Organic Acid Metabolism
|
Organic Acid Metabolism Disorder
|
Organic Acidemias
|
Inherited Organic Acidemia
|
Organic Acidurias
|
Aciduria Organic
|
|
|
Macrocytic Anemia |
Anemia Macrocytic
|
Anemia, Macrocytic
|
Macrocytic Anaemia
|
|
|
Folate Malabsorption, Hereditary |
Hereditary Folate Malabsorption
|
Congenital Defect Of Folate Absorption
|
Congenital Folate Malabsorption
|
Folic Acid Transport Defect
|
HFM
|
|
|
Choline Deficiency Disease |
|
|
Cardiovascular System Disease |
Abnormality Of The Cardiovascular System
|
Cardiovascular Disease
|
Disease Of Subdivision Of Hemolymphoid System
|
Disorder Of Cardiovascular System
|
Cardiovascular Diseases
|
|
|
Deficiency Anemia |
Anemia
|
Deficiency Anemias
|
Anaemia
|
|
|
Urethritis |
Nonspecific Urethritis
|
Non-Gonococcal Urethritis
|
Nongonococcal Urethritis
|
|
|
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
|
|
|
Myocardial Infarction |
Heart Attack
|
Myocardial Infarction, Susceptibility To
|
Myocardial Infarction 1
|
Myocardial Infarction, Protection Against
|
Myocardial Infarction, Decreased Susceptibility To
|
Myocardial Infarction, Decreased
|
Myocardial Infarct
|
MCI1
|
Premature Myocardial Infarction
|
Myocardial Infarction, Susceptibility To, Type 1
|
|
|
Methylmalonic Aciduria And Homocystinuria, Cbld Type |
Homocystinuria, Cbld Type, Variant 1
|
Methylmalonic Aciduria And Homocystinuria Type Cbld
|
Vitamin B12-Responsive Methylmalonic Acidemia, Type Cbldv2
|
MAHCD
|
Methylmalonic Acidemia And Homocystinuria, Cbld Type
|
Methylmalonic Aciduria, Cblh Type, Formerly
|
Methylmalonic Acidemia, Cblh Type, Formerly
|
Methylmalonic Aciduria, Cbld Type, Variant 2
|
Cobalamin D Deficiency
|
Methylcobalamin Deficiency Type Cbldv1
|
Functional Methionine Synthase Deficiency Type Cbldv1
|
Vitamin B12-Responsive Methylmalonic Aciduria, Type Cbldv2
|
Methylmalonic Acidemia With Homocystinuria, Type Cbld
|
Cbld Defect
|
Cobalamin D Defect
|
Combined Defect In Adenosylcobalamin And Methylcobalamin Synthesis, Type Cbld
|
Methylmalonic Aciduria With Homocystinuria, Type Cbld
|
Homocystinuria Cbld Variant 1
|
Methylmalonic Acidemia And Homocystinuria Cbld Type
|
Methylmalonic Aciduria And Homocystinuria Cbld-Combined
|
Methylmalonic Aciduria And Homocystinuria Cbld Original
|
Methylmalonic Aciduria Cbld Variant 2
|
Aciduria, Methylmalonic, And Homocystinuria, Cbld Type
|
|
|
Lipoprotein Quantitative Trait Locus |
Coronary Artery Disease
|
Coronary Artery Anomaly
|
Coronary Artery Disease, Susceptibility To
|
Myocardial Ischemia
|
Congenital Anomaly Of Coronary Artery
|
Coronary Arteriosclerosis
|
Coronary Disease
|
Coronary Heart Disease
|
Coronary Artery Disorder
|
LPAQTL
|
Lpa Deficiency, Congenital
|
Coronary Artery Abnormality
|
Coronary Artery Anomaly, Congenital
|
Chd
|
Coronary Syndrome
|
Congenital Malformations Of Coronary Vessels
|
Malformation Of Coronary Vessels
|
Congenital Coronary Artery Anomaly
|
Congenital Coronary Artery Deformity
|
Congenital Coronary Artery Disorder
|
Abnormal Coronary Artery
|
Congenital Coronary Artery Malposition
|
Congenital Coronary Disease
|
Congenital Anomaly Of Coronary Arteries
|
|
|
Autism Spectrum Disorder |
Asd
|
Autism Spectrum Disorders
|
Autistic Continuum
|
Pervasive Developmental Disorder
|
Pervasive Development Disorder
|
Autistic Behavior
|
Autistic Disorder
|
Autistic
|
Autistic Disorder Of Childhood Onset
|
Infantile Autism
|
Childhood Autism
|
Kanner Syndrome
|
Pervasive Developmental Delay Nos
|
Pervasive Developmental Disorder, Not Otherwise Specified
|
|
|
Autism |
Autistic Disorder
|
Autism Susceptibility 1
|
Childhood Autism
|
Autistic Disorder Of Childhood Onset
|
Infantile Autism
|
Kanner'S Syndrome
|
Autistic
|
|
|
Breast Cancer |
Breast Carcinoma
|
Male Breast Cancer
|
Breast Cancer, Familial
|
Malignant Neoplasm Of Breast
|
Breast Cancer, Susceptibility To
|
Breast Cancer, Early-Onset
|
Malignant Tumor Of Breast
|
Carcinoma Of Male Breast
|
Breast Cancer, Invasive Ductal
|
Breast Cancer, Protection Against
|
Breast Cancer, Somatic
|
Breast Cancer, Male
|
Breast Cancer, Lobular, Somatic
|
Breast Tumor
|
Mammary Cancer
|
Mammary Tumor
|
Malignant Neoplasm Of Male Breast
|
Mammary Carcinoma
|
Male Breast Carcinoma
|
Familial Cancer Of Breast
|
Invasive Ductal Breast Carcinoma
|
Breast Cancer Susceptibility
|
Breast Cancer, Male, Susceptibility To
|
Breast Cancer, Early-Onset, Susceptibility To
|
Malignant Tumor Of The Breast
|
Mammary Neoplasm
|
Primary Breast Cancer
|
Neoplasm Of Male Breast
|
Carcinoma Of Breast
|
Breast Cancer In Men
|
Familial Breast Cancer
|
Cancer Of Breast
|
BC
|
Breast Cancer Familial
|
Breast Cancer Familial Male
|
Breast Cancer, Familial Male
|
Breast Male Carcinoma
|
Breast Neoplasms
|
Breast Neoplasms, Male
|
Mammary Tumors
|
Mammary Carcinomas
|
Cancer, Breast
|
Cancer, Breast, Susceptibility
|
Invasive Breast Ductal Carcinoma
|
Breast Neoplasm
|
Susceptibility To Breast Cancer
|
Mammary Neoplasms
|
Animal Mammary Neoplasms
|
Primary Malignant Neoplasm Of Breast
|
Infiltrating Ductal Carcinoma Of Breast
|
Infiltrating Duct Carcinoma Of Unspecified Site
|
Infiltrating Ductular Carcinoma Of Unspecified Site
|
Invasive Breast Carcinoma Of No Special Type
|
Microinvasive Carcinoma Of Breast
|
Carcinoma With Apocrine Differentiation
|
|
|
Orofacial Cleft |
|
|
Dyskeratosis Congenita |
Dyskeratosis Congenita Autosomal Dominant
|
Dc
|
Dkc
|
Zinsser-Engman-Cole Syndrome
|
Dyskeratosis Congenita, Autosomal Dominant
|
Autosomal Dominant Dyskeratosis Congenita
|
Dkca
|
Dyskeratosis Congenita Scoggins Type
|
Zinsser-Cole-Engman Syndrome
|
X-Linked Dyskeratosis Congenita
|
Hoyeraal-Hreidarsson Syndrome
|
|
|
Fanconi Anemia, Complementation Group A |
Fanconi Anemia
|
Fanconi Pancytopenia
|
Fanconi Anemia Complementation Group A
|
FANCA
|
Fa
|
Fanconi Panmyelopathy
|
Fanconi'S Anemia
|
Fanconi Anaemia
|
Fanconi'S Anaemia
|
Fanconi Hypoplastic Anemia
|
Estren-Dameshek Variant Of Fanconi Anemia
|
Estren-Dameshek Variant Of Fanconi Pancytopenia
|
Fanconi Anemia Estren-Dameshek Variant
|
Fanconis Anemia
|
|
|
Non-Syndromic X-Linked Intellectual Disability |
X-Linked Non-Syndromic Intellectual Disability
|
Non-Specific X-Linked Mental Retardation
|
X-Linked Non-Specific Intellectual Disability
|
|
|
Alzheimer Disease, Familial, 1 |
Alzheimer Disease
|
Alzheimer'S Disease
|
Presenile And Senile Dementia
|
AD1
|
Alzheimer Disease, Susceptibility To
|
Alzheimer Disease, Late-Onset, Susceptibility To
|
Alzheimer Disease 1, Familial
|
AD
|
Familial Alzheimer Disease
|
Alzheimer Disease, Late-Onset
|
Alzheimers Dementia
|
Alzheimer Dementia
|
Alzheimer Sclerosis
|
Alzheimer Syndrome
|
Alzheimer-Type Dementia
|
Dat
|
Primary Senile Degenerative Dementia
|
Sdat
|
Alzheimer Disease 1
|
Autosomal Dominant Alzheimer Disease
|
Early-Onset Alzheimer Disease With Cerebral Amyloid Angiopathy
|
Late Onset Alzheimer Disease
|
Alzheimers Disease
|
Alzheimer Disease, Early-Onset, With Cerebral Amyloid Angiopathy
|
Late-Onset Alzheimers Disease
|
Alzheimer'S Disease Pathway Kegg
|
Dementia Due To Alzheimer'S Disease
|
Alzheimer Disease Type 1
|
Alzheimers
|
|
|